Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.46411746G>ACA321998114PCNTn.18G>A
c.5706G>A (p.Leu1902=)
c.*4916G>A (n.*4916G>A)
c.5673G>A (p.Leu1891=)
n.5942G>A
c.5319G>A (p.Leu1773=)
c.5784G>A (p.Leu1928=)
c.5754G>A (p.Leu1918=)
c.5352G>A (p.Leu1784=)
c.4590G>A (p.Leu1530=)
c.3486G>A (p.Leu1162=)
 dbSNP
21g.46411746G>CCA513174322PCNTn.18G>C
c.5706G>C (p.Leu1902=)
c.*4916G>C (n.*4916G>C)
c.5673G>C (p.Leu1891=)
n.5942G>C
c.5319G>C (p.Leu1773=)
c.5784G>C (p.Leu1928=)
c.5754G>C (p.Leu1918=)
c.5352G>C (p.Leu1784=)
c.4590G>C (p.Leu1530=)
c.3486G>C (p.Leu1162=)
21g.46411746G=CA2392665034PCNTn.18G=
c.5706G= (p.Leu1902=)
c.*4916G= (n.*4916G=)
c.5673G= (p.Leu1891=)
n.5942G=
c.5319G= (p.Leu1773=)
c.5784G= (p.Leu1928=)
c.5754G= (p.Leu1918=)
c.5352G= (p.Leu1784=)
c.4590G= (p.Leu1530=)
c.3486G= (p.Leu1162=)
21g.46411746G>TCA513174323PCNTn.18G>T
c.5706G>T (p.Leu1902=)
c.*4916G>T (n.*4916G>T)
c.5673G>T (p.Leu1891=)
n.5942G>T
c.5319G>T (p.Leu1773=)
c.5784G>T (p.Leu1928=)
c.5754G>T (p.Leu1918=)
c.5352G>T (p.Leu1784=)
c.4590G>T (p.Leu1530=)
c.3486G>T (p.Leu1162=)
21g.46411747G>ACA410555886PCNTn.19G>A
c.5707G>A (p.Glu1903Lys)
c.*4917G>A (n.*4917G>A)
c.5674G>A (p.Glu1892Lys)
n.5943G>A
c.5320G>A (p.Glu1774Lys)
c.5785G>A (p.Glu1929Lys)
c.5755G>A (p.Glu1919Lys)
c.5353G>A (p.Glu1785Lys)
c.4591G>A (p.Glu1531Lys)
c.3487G>A (p.Glu1163Lys)
21g.46411747G>CCA410555887PCNTn.19G>C
c.5707G>C (p.Glu1903Gln)
c.*4917G>C (n.*4917G>C)
c.5674G>C (p.Glu1892Gln)
n.5943G>C
c.5320G>C (p.Glu1774Gln)
c.5785G>C (p.Glu1929Gln)
c.5755G>C (p.Glu1919Gln)
c.5353G>C (p.Glu1785Gln)
c.4591G>C (p.Glu1531Gln)
c.3487G>C (p.Glu1163Gln)
21g.46411747G>TCA410555896PCNTn.19G>T
c.5707G>T (p.Glu1903Ter)
c.*4917G>T (n.*4917G>T)
c.5674G>T (p.Glu1892Ter)
n.5943G>T
c.5320G>T (p.Glu1774Ter)
c.5785G>T (p.Glu1929Ter)
c.5755G>T (p.Glu1919Ter)
c.5353G>T (p.Glu1785Ter)
c.4591G>T (p.Glu1531Ter)
c.3487G>T (p.Glu1163Ter)
 gnomAD v4
21g.46411748A>CCA410555899PCNTn.20A>C
c.5708A>C (p.Glu1903Ala)
c.*4918A>C (n.*4918A>C)
c.5675A>C (p.Glu1892Ala)
n.5944A>C
c.5321A>C (p.Glu1774Ala)
c.5786A>C (p.Glu1929Ala)
c.5756A>C (p.Glu1919Ala)
c.5354A>C (p.Glu1785Ala)
c.4592A>C (p.Glu1531Ala)
c.3488A>C (p.Glu1163Ala)
21g.46411748A>GCA410555904PCNTn.20A>G
c.5708A>G (p.Glu1903Gly)
c.*4918A>G (n.*4918A>G)
c.5675A>G (p.Glu1892Gly)
n.5944A>G
c.5321A>G (p.Glu1774Gly)
c.5786A>G (p.Glu1929Gly)
c.5756A>G (p.Glu1919Gly)
c.5354A>G (p.Glu1785Gly)
c.4592A>G (p.Glu1531Gly)
c.3488A>G (p.Glu1163Gly)
21g.46411748A>TCA410555906PCNTn.20A>T
c.5708A>T (p.Glu1903Val)
c.*4918A>T (n.*4918A>T)
c.5675A>T (p.Glu1892Val)
n.5944A>T
c.5321A>T (p.Glu1774Val)
c.5786A>T (p.Glu1929Val)
c.5756A>T (p.Glu1919Val)
c.5354A>T (p.Glu1785Val)
c.4592A>T (p.Glu1531Val)
c.3488A>T (p.Glu1163Val)
21g.46411749G>ACA513174327PCNTn.21G>A
c.5709G>A (p.Glu1903=)
c.*4919G>A (n.*4919G>A)
c.5676G>A (p.Glu1892=)
n.5945G>A
c.5322G>A (p.Glu1774=)
c.5787G>A (p.Glu1929=)
c.5757G>A (p.Glu1919=)
c.5355G>A (p.Glu1785=)
c.4593G>A (p.Glu1531=)
c.3489G>A (p.Glu1163=)
21g.46411749G>CCA410555914PCNTn.21G>C
c.5709G>C (p.Glu1903Asp)
c.*4919G>C (n.*4919G>C)
c.5676G>C (p.Glu1892Asp)
n.5945G>C
c.5322G>C (p.Glu1774Asp)
c.5787G>C (p.Glu1929Asp)
c.5757G>C (p.Glu1919Asp)
c.5355G>C (p.Glu1785Asp)
c.4593G>C (p.Glu1531Asp)
c.3489G>C (p.Glu1163Asp)
21g.46411749G>TCA410555915PCNTn.21G>T
c.5709G>T (p.Glu1903Asp)
c.*4919G>T (n.*4919G>T)
c.5676G>T (p.Glu1892Asp)
n.5945G>T
c.5322G>T (p.Glu1774Asp)
c.5787G>T (p.Glu1929Asp)
c.5757G>T (p.Glu1919Asp)
c.5355G>T (p.Glu1785Asp)
c.4593G>T (p.Glu1531Asp)
c.3489G>T (p.Glu1163Asp)
21g.46411750G>ACA410555918PCNTn.22G>A
c.5710G>A (p.Ala1904Thr)
c.*4920G>A (n.*4920G>A)
c.5677G>A (p.Ala1893Thr)
n.5946G>A
c.5323G>A (p.Ala1775Thr)
c.5788G>A (p.Ala1930Thr)
c.5758G>A (p.Ala1920Thr)
c.5356G>A (p.Ala1786Thr)
c.4594G>A (p.Ala1532Thr)
c.3490G>A (p.Ala1164Thr)
21g.46411750G>CCA410555922PCNTn.22G>C
c.5710G>C (p.Ala1904Pro)
c.*4920G>C (n.*4920G>C)
c.5677G>C (p.Ala1893Pro)
n.5946G>C
c.5323G>C (p.Ala1775Pro)
c.5788G>C (p.Ala1930Pro)
c.5758G>C (p.Ala1920Pro)
c.5356G>C (p.Ala1786Pro)
c.4594G>C (p.Ala1532Pro)
c.3490G>C (p.Ala1164Pro)
 dbSNP
21g.46411750G=CA2392665035PCNTn.22G=
c.5710G= (p.Ala1904=)
c.*4920G= (n.*4920G=)
c.5677G= (p.Ala1893=)
n.5946G=
c.5323G= (p.Ala1775=)
c.5788G= (p.Ala1930=)
c.5758G= (p.Ala1920=)
c.5356G= (p.Ala1786=)
c.4594G= (p.Ala1532=)
c.3490G= (p.Ala1164=)
21g.46411750G>TCA251087PCNTn.22G>T
c.5710G>T (p.Ala1904Ser)
c.*4920G>T (n.*4920G>T)
c.5677G>T (p.Ala1893Ser)
n.5946G>T
c.5323G>T (p.Ala1775Ser)
c.5788G>T (p.Ala1930Ser)
c.5758G>T (p.Ala1920Ser)
c.5356G>T (p.Ala1786Ser)
c.4594G>T (p.Ala1532Ser)
c.3490G>T (p.Ala1164Ser)
 ClinVar dbSNP gnomAD v4
21g.46411751C>ACA410555928PCNTn.23C>A
c.5711C>A (p.Ala1904Asp)
c.*4921C>A (n.*4921C>A)
c.5678C>A (p.Ala1893Asp)
n.5947C>A
c.5324C>A (p.Ala1775Asp)
c.5789C>A (p.Ala1930Asp)
c.5759C>A (p.Ala1920Asp)
c.5357C>A (p.Ala1786Asp)
c.4595C>A (p.Ala1532Asp)
c.3491C>A (p.Ala1164Asp)
21g.46411751C=CA2392665036PCNTn.23C=
c.5711C= (p.Ala1904=)
c.*4921C= (n.*4921C=)
c.5678C= (p.Ala1893=)
n.5947C=
c.5324C= (p.Ala1775=)
c.5789C= (p.Ala1930=)
c.5759C= (p.Ala1920=)
c.5357C= (p.Ala1786=)
c.4595C= (p.Ala1532=)
c.3491C= (p.Ala1164=)
21g.46411751C>GCA410555924PCNTn.23C>G
c.5711C>G (p.Ala1904Gly)
c.*4921C>G (n.*4921C>G)
c.5678C>G (p.Ala1893Gly)
n.5947C>G
c.5324C>G (p.Ala1775Gly)
c.5789C>G (p.Ala1930Gly)
c.5759C>G (p.Ala1920Gly)
c.5357C>G (p.Ala1786Gly)
c.4595C>G (p.Ala1532Gly)
c.3491C>G (p.Ala1164Gly)
21g.46411751C>TCA410555923PCNTn.23C>T
c.5711C>T (p.Ala1904Val)
c.*4921C>T (n.*4921C>T)
c.5678C>T (p.Ala1893Val)
n.5947C>T
c.5324C>T (p.Ala1775Val)
c.5789C>T (p.Ala1930Val)
c.5759C>T (p.Ala1920Val)
c.5357C>T (p.Ala1786Val)
c.4595C>T (p.Ala1532Val)
c.3491C>T (p.Ala1164Val)
 dbSNP gnomAD v4
21g.46411752C>ACA10080057PCNTn.24C>A
c.5712C>A (p.Ala1904=)
c.*4922C>A (n.*4922C>A)
c.5679C>A (p.Ala1893=)
n.5948C>A
c.5325C>A (p.Ala1775=)
c.5790C>A (p.Ala1930=)
c.5760C>A (p.Ala1920=)
c.5358C>A (p.Ala1786=)
c.4596C>A (p.Ala1532=)
c.3492C>A (p.Ala1164=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411752C=CA2392665037PCNTn.24C=
c.5712C= (p.Ala1904=)
c.*4922C= (n.*4922C=)
c.5679C= (p.Ala1893=)
n.5948C=
c.5325C= (p.Ala1775=)
c.5790C= (p.Ala1930=)
c.5760C= (p.Ala1920=)
c.5358C= (p.Ala1786=)
c.4596C= (p.Ala1532=)
c.3492C= (p.Ala1164=)
21g.46411752C>GCA10080056PCNTn.24C>G
c.5712C>G (p.Ala1904=)
c.*4922C>G (n.*4922C>G)
c.5679C>G (p.Ala1893=)
n.5948C>G
c.5325C>G (p.Ala1775=)
c.5790C>G (p.Ala1930=)
c.5760C>G (p.Ala1920=)
c.5358C>G (p.Ala1786=)
c.4596C>G (p.Ala1532=)
c.3492C>G (p.Ala1164=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411752C>TCA10080058PCNTn.24C>T
c.5712C>T (p.Ala1904=)
c.*4922C>T (n.*4922C>T)
c.5679C>T (p.Ala1893=)
n.5948C>T
c.5325C>T (p.Ala1775=)
c.5790C>T (p.Ala1930=)
c.5760C>T (p.Ala1920=)
c.5358C>T (p.Ala1786=)
c.4596C>T (p.Ala1532=)
c.3492C>T (p.Ala1164=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411753G>ACA10080059PCNTn.25G>A
c.5713G>A (p.Val1905Ile)
c.*4923G>A (n.*4923G>A)
c.5680G>A (p.Val1894Ile)
n.5949G>A
c.5326G>A (p.Val1776Ile)
c.5791G>A (p.Val1931Ile)
c.5761G>A (p.Val1921Ile)
c.5359G>A (p.Val1787Ile)
c.4597G>A (p.Val1533Ile)
c.3493G>A (p.Val1165Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411753G>CCA410555945PCNTn.25G>C
c.5713G>C (p.Val1905Leu)
c.*4923G>C (n.*4923G>C)
c.5680G>C (p.Val1894Leu)
n.5949G>C
c.5326G>C (p.Val1776Leu)
c.5791G>C (p.Val1931Leu)
c.5761G>C (p.Val1921Leu)
c.5359G>C (p.Val1787Leu)
c.4597G>C (p.Val1533Leu)
c.3493G>C (p.Val1165Leu)
21g.46411753G=CA2392665038PCNTn.25G=
c.5713G= (p.Val1905=)
c.*4923G= (n.*4923G=)
c.5680G= (p.Val1894=)
n.5949G=
c.5326G= (p.Val1776=)
c.5791G= (p.Val1931=)
c.5761G= (p.Val1921=)
c.5359G= (p.Val1787=)
c.4597G= (p.Val1533=)
c.3493G= (p.Val1165=)
21g.46411753G>TCA410555951PCNTn.25G>T
c.5713G>T (p.Val1905Phe)
c.*4923G>T (n.*4923G>T)
c.5680G>T (p.Val1894Phe)
n.5949G>T
c.5326G>T (p.Val1776Phe)
c.5791G>T (p.Val1931Phe)
c.5761G>T (p.Val1921Phe)
c.5359G>T (p.Val1787Phe)
c.4597G>T (p.Val1533Phe)
c.3493G>T (p.Val1165Phe)
21g.46411754T>ACA410555953PCNTn.26T>A
c.5714T>A (p.Val1905Asp)
c.*4924T>A (n.*4924T>A)
c.5681T>A (p.Val1894Asp)
n.5950T>A
c.5327T>A (p.Val1776Asp)
c.5792T>A (p.Val1931Asp)
c.5762T>A (p.Val1921Asp)
c.5360T>A (p.Val1787Asp)
c.4598T>A (p.Val1533Asp)
c.3494T>A (p.Val1165Asp)
21g.46411754T>CCA410555958PCNTn.26T>C
c.5714T>C (p.Val1905Ala)
c.*4924T>C (n.*4924T>C)
c.5681T>C (p.Val1894Ala)
n.5950T>C
c.5327T>C (p.Val1776Ala)
c.5792T>C (p.Val1931Ala)
c.5762T>C (p.Val1921Ala)
c.5360T>C (p.Val1787Ala)
c.4598T>C (p.Val1533Ala)
c.3494T>C (p.Val1165Ala)
21g.46411754T>GCA410555961PCNTn.26T>G
c.5714T>G (p.Val1905Gly)
c.*4924T>G (n.*4924T>G)
c.5681T>G (p.Val1894Gly)
n.5950T>G
c.5327T>G (p.Val1776Gly)
c.5792T>G (p.Val1931Gly)
c.5762T>G (p.Val1921Gly)
c.5360T>G (p.Val1787Gly)
c.4598T>G (p.Val1533Gly)
c.3494T>G (p.Val1165Gly)
21g.46411755C>ACA513174340PCNTn.27C>A
c.5715C>A (p.Val1905=)
c.*4925C>A (n.*4925C>A)
c.5682C>A (p.Val1894=)
n.5951C>A
c.5328C>A (p.Val1776=)
c.5793C>A (p.Val1931=)
c.5763C>A (p.Val1921=)
c.5361C>A (p.Val1787=)
c.4599C>A (p.Val1533=)
c.3495C>A (p.Val1165=)
21g.46411755C=CA2392665039PCNTn.27C=
c.5715C= (p.Val1905=)
c.*4925C= (n.*4925C=)
c.5682C= (p.Val1894=)
n.5951C=
c.5328C= (p.Val1776=)
c.5793C= (p.Val1931=)
c.5763C= (p.Val1921=)
c.5361C= (p.Val1787=)
c.4599C= (p.Val1533=)
c.3495C= (p.Val1165=)
21g.46411755C>GCA513174342PCNTn.27C>G
c.5715C>G (p.Val1905=)
c.*4925C>G (n.*4925C>G)
c.5682C>G (p.Val1894=)
n.5951C>G
c.5328C>G (p.Val1776=)
c.5793C>G (p.Val1931=)
c.5763C>G (p.Val1921=)
c.5361C>G (p.Val1787=)
c.4599C>G (p.Val1533=)
c.3495C>G (p.Val1165=)
21g.46411755C>TCA321998124PCNTn.27C>T
c.5715C>T (p.Val1905=)
c.*4925C>T (n.*4925C>T)
c.5682C>T (p.Val1894=)
n.5951C>T
c.5328C>T (p.Val1776=)
c.5793C>T (p.Val1931=)
c.5763C>T (p.Val1921=)
c.5361C>T (p.Val1787=)
c.4599C>T (p.Val1533=)
c.3495C>T (p.Val1165=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.46411756C>ACA410555971PCNTn.28C>A
c.5716C>A (p.Leu1906Met)
c.*4926C>A (n.*4926C>A)
c.5683C>A (p.Leu1895Met)
n.5952C>A
c.5329C>A (p.Leu1777Met)
c.5794C>A (p.Leu1932Met)
c.5764C>A (p.Leu1922Met)
c.5362C>A (p.Leu1788Met)
c.4600C>A (p.Leu1534Met)
c.3496C>A (p.Leu1166Met)
21g.46411756C=CA2392665040PCNTn.28C=
c.5716C= (p.Leu1906=)
c.*4926C= (n.*4926C=)
c.5683C= (p.Leu1895=)
n.5952C=
c.5329C= (p.Leu1777=)
c.5794C= (p.Leu1932=)
c.5764C= (p.Leu1922=)
c.5362C= (p.Leu1788=)
c.4600C= (p.Leu1534=)
c.3496C= (p.Leu1166=)
21g.46411756C>GCA410555973PCNTn.28C>G
c.5716C>G (p.Leu1906Val)
c.*4926C>G (n.*4926C>G)
c.5683C>G (p.Leu1895Val)
n.5952C>G
c.5329C>G (p.Leu1777Val)
c.5794C>G (p.Leu1932Val)
c.5764C>G (p.Leu1922Val)
c.5362C>G (p.Leu1788Val)
c.4600C>G (p.Leu1534Val)
c.3496C>G (p.Leu1166Val)
21g.46411756C>TCA513174343PCNTn.28C>T
c.5716C>T (p.Leu1906=)
c.*4926C>T (n.*4926C>T)
c.5683C>T (p.Leu1895=)
n.5952C>T
c.5329C>T (p.Leu1777=)
c.5794C>T (p.Leu1932=)
c.5764C>T (p.Leu1922=)
c.5362C>T (p.Leu1788=)
c.4600C>T (p.Leu1534=)
c.3496C>T (p.Leu1166=)
 dbSNP gnomAD v2 gnomAD v4
21g.46411757T>ACA410555979PCNTn.29T>A
c.5717T>A (p.Leu1906Gln)
c.*4927T>A (n.*4927T>A)
c.5684T>A (p.Leu1895Gln)
n.5953T>A
c.5330T>A (p.Leu1777Gln)
c.5795T>A (p.Leu1932Gln)
c.5765T>A (p.Leu1922Gln)
c.5363T>A (p.Leu1788Gln)
c.4601T>A (p.Leu1534Gln)
c.3497T>A (p.Leu1166Gln)
21g.46411757T>CCA410555987PCNTn.29T>C
c.5717T>C (p.Leu1906Pro)
c.*4927T>C (n.*4927T>C)
c.5684T>C (p.Leu1895Pro)
n.5953T>C
c.5330T>C (p.Leu1777Pro)
c.5795T>C (p.Leu1932Pro)
c.5765T>C (p.Leu1922Pro)
c.5363T>C (p.Leu1788Pro)
c.4601T>C (p.Leu1534Pro)
c.3497T>C (p.Leu1166Pro)
21g.46411757T>GCA410555990PCNTn.29T>G
c.5717T>G (p.Leu1906Arg)
c.*4927T>G (n.*4927T>G)
c.5684T>G (p.Leu1895Arg)
n.5953T>G
c.5330T>G (p.Leu1777Arg)
c.5795T>G (p.Leu1932Arg)
c.5765T>G (p.Leu1922Arg)
c.5363T>G (p.Leu1788Arg)
c.4601T>G (p.Leu1534Arg)
c.3497T>G (p.Leu1166Arg)
21g.46411758G>ACA10080060PCNTn.30G>A
c.5718G>A (p.Leu1906=)
c.*4928G>A (n.*4928G>A)
c.5685G>A (p.Leu1895=)
n.5954G>A
c.5331G>A (p.Leu1777=)
c.5796G>A (p.Leu1932=)
c.5766G>A (p.Leu1922=)
c.5364G>A (p.Leu1788=)
c.4602G>A (p.Leu1534=)
c.3498G>A (p.Leu1166=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46411758G>CCA513174347PCNTn.30G>C
c.5718G>C (p.Leu1906=)
c.*4928G>C (n.*4928G>C)
c.5685G>C (p.Leu1895=)
n.5954G>C
c.5331G>C (p.Leu1777=)
c.5796G>C (p.Leu1932=)
c.5766G>C (p.Leu1922=)
c.5364G>C (p.Leu1788=)
c.4602G>C (p.Leu1534=)
c.3498G>C (p.Leu1166=)
21g.46411758G=CA2392665041PCNTn.30G=
c.5718G= (p.Leu1906=)
c.*4928G= (n.*4928G=)
c.5685G= (p.Leu1895=)
n.5954G=
c.5331G= (p.Leu1777=)
c.5796G= (p.Leu1932=)
c.5766G= (p.Leu1922=)
c.5364G= (p.Leu1788=)
c.4602G= (p.Leu1534=)
c.3498G= (p.Leu1166=)
21g.46411758G>TCA513174348PCNTn.30G>T
c.5718G>T (p.Leu1906=)
c.*4928G>T (n.*4928G>T)
c.5685G>T (p.Leu1895=)
n.5954G>T
c.5331G>T (p.Leu1777=)
c.5796G>T (p.Leu1932=)
c.5766G>T (p.Leu1922=)
c.5364G>T (p.Leu1788=)
c.4602G>T (p.Leu1534=)
c.3498G>T (p.Leu1166=)
 gnomAD v4
21g.46411759T>ACA410556000PCNTn.31T>A
c.5719T>A (p.Leu1907Met)
c.*4929T>A (n.*4929T>A)
c.5686T>A (p.Leu1896Met)
n.5955T>A
c.5332T>A (p.Leu1778Met)
c.5797T>A (p.Leu1933Met)
c.5767T>A (p.Leu1923Met)
c.5365T>A (p.Leu1789Met)
c.4603T>A (p.Leu1535Met)
c.3499T>A (p.Leu1167Met)
21g.46411759T>CCA513174349PCNTn.31T>C
c.5719T>C (p.Leu1907=)
c.*4929T>C (n.*4929T>C)
c.5686T>C (p.Leu1896=)
n.5955T>C
c.5332T>C (p.Leu1778=)
c.5797T>C (p.Leu1933=)
c.5767T>C (p.Leu1923=)
c.5365T>C (p.Leu1789=)
c.4603T>C (p.Leu1535=)
c.3499T>C (p.Leu1167=)
21g.46411759T>GCA410556002PCNTn.31T>G
c.5719T>G (p.Leu1907Val)
c.*4929T>G (n.*4929T>G)
c.5686T>G (p.Leu1896Val)
n.5955T>G
c.5332T>G (p.Leu1778Val)
c.5797T>G (p.Leu1933Val)
c.5767T>G (p.Leu1923Val)
c.5365T>G (p.Leu1789Val)
c.4603T>G (p.Leu1535Val)
c.3499T>G (p.Leu1167Val)
21g.46411760T>ACA410556003PCNTn.32T>A
c.5720T>A (p.Leu1907Ter)
c.*4930T>A (n.*4930T>A)
c.5687T>A (p.Leu1896Ter)
n.5956T>A
c.5333T>A (p.Leu1778Ter)
c.5798T>A (p.Leu1933Ter)
c.5768T>A (p.Leu1923Ter)
c.5366T>A (p.Leu1789Ter)
c.4604T>A (p.Leu1535Ter)
c.3500T>A (p.Leu1167Ter)
21g.46411760T>CCA410556004PCNTn.32T>C
c.5720T>C (p.Leu1907Ser)
c.*4930T>C (n.*4930T>C)
c.5687T>C (p.Leu1896Ser)
n.5956T>C
c.5333T>C (p.Leu1778Ser)
c.5798T>C (p.Leu1933Ser)
c.5768T>C (p.Leu1923Ser)
c.5366T>C (p.Leu1789Ser)
c.4604T>C (p.Leu1535Ser)
c.3500T>C (p.Leu1167Ser)
21g.46411760T>GCA410556008PCNTn.32T>G
c.5720T>G (p.Leu1907Trp)
c.*4930T>G (n.*4930T>G)
c.5687T>G (p.Leu1896Trp)
n.5956T>G
c.5333T>G (p.Leu1778Trp)
c.5798T>G (p.Leu1933Trp)
c.5768T>G (p.Leu1923Trp)
c.5366T>G (p.Leu1789Trp)
c.4604T>G (p.Leu1535Trp)
c.3500T>G (p.Leu1167Trp)
 gnomAD v4
21g.46411761G>ACA513174354PCNTn.33G>A
c.5721G>A (p.Leu1907=)
c.*4931G>A (n.*4931G>A)
c.5688G>A (p.Leu1896=)
n.5957G>A
c.5334G>A (p.Leu1778=)
c.5799G>A (p.Leu1933=)
c.5769G>A (p.Leu1923=)
c.5367G>A (p.Leu1789=)
c.4605G>A (p.Leu1535=)
c.3501G>A (p.Leu1167=)
21g.46411761G>CCA410556014PCNTn.33G>C
c.5721G>C (p.Leu1907Phe)
c.*4931G>C (n.*4931G>C)
c.5688G>C (p.Leu1896Phe)
n.5957G>C
c.5334G>C (p.Leu1778Phe)
c.5799G>C (p.Leu1933Phe)
c.5769G>C (p.Leu1923Phe)
c.5367G>C (p.Leu1789Phe)
c.4605G>C (p.Leu1535Phe)
c.3501G>C (p.Leu1167Phe)
21g.46411761G>TCA410556017PCNTn.33G>T
c.5721G>T (p.Leu1907Phe)
c.*4931G>T (n.*4931G>T)
c.5688G>T (p.Leu1896Phe)
n.5957G>T
c.5334G>T (p.Leu1778Phe)
c.5799G>T (p.Leu1933Phe)
c.5769G>T (p.Leu1923Phe)
c.5367G>T (p.Leu1789Phe)
c.4605G>T (p.Leu1535Phe)
c.3501G>T (p.Leu1167Phe)
21g.46411762G>ACA10080061PCNTn.34G>A
c.5722G>A (p.Ala1908Thr)
c.*4932G>A (n.*4932G>A)
c.5689G>A (p.Ala1897Thr)
n.5958G>A
c.5335G>A (p.Ala1779Thr)
c.5800G>A (p.Ala1934Thr)
c.5770G>A (p.Ala1924Thr)
c.5368G>A (p.Ala1790Thr)
c.4606G>A (p.Ala1536Thr)
c.3502G>A (p.Ala1168Thr)
 dbSNP ExAC gnomAD v2
21g.46411762G>CCA410556023PCNTn.34G>C
c.5722G>C (p.Ala1908Pro)
c.*4932G>C (n.*4932G>C)
c.5689G>C (p.Ala1897Pro)
n.5958G>C
c.5335G>C (p.Ala1779Pro)
c.5800G>C (p.Ala1934Pro)
c.5770G>C (p.Ala1924Pro)
c.5368G>C (p.Ala1790Pro)
c.4606G>C (p.Ala1536Pro)
c.3502G>C (p.Ala1168Pro)
21g.46411762G=CA2392665042PCNTn.34G=
c.5722G= (p.Ala1908=)
c.*4932G= (n.*4932G=)
c.5689G= (p.Ala1897=)
n.5958G=
c.5335G= (p.Ala1779=)
c.5800G= (p.Ala1934=)
c.5770G= (p.Ala1924=)
c.5368G= (p.Ala1790=)
c.4606G= (p.Ala1536=)
c.3502G= (p.Ala1168=)
21g.46411762G>TCA410556027PCNTn.34G>T
c.5722G>T (p.Ala1908Ser)
c.*4932G>T (n.*4932G>T)
c.5689G>T (p.Ala1897Ser)
n.5958G>T
c.5335G>T (p.Ala1779Ser)
c.5800G>T (p.Ala1934Ser)
c.5770G>T (p.Ala1924Ser)
c.5368G>T (p.Ala1790Ser)
c.4606G>T (p.Ala1536Ser)
c.3502G>T (p.Ala1168Ser)
 gnomAD v4
21g.46411763C>ACA410556028PCNTn.35C>A
c.5723C>A (p.Ala1908Asp)
c.*4933C>A (n.*4933C>A)
c.5690C>A (p.Ala1897Asp)
n.5959C>A
c.5336C>A (p.Ala1779Asp)
c.5801C>A (p.Ala1934Asp)
c.5771C>A (p.Ala1924Asp)
c.5369C>A (p.Ala1790Asp)
c.4607C>A (p.Ala1536Asp)
c.3503C>A (p.Ala1168Asp)
21g.46411763C=CA2392665043PCNTn.35C=
c.5723C= (p.Ala1908=)
c.*4933C= (n.*4933C=)
c.5690C= (p.Ala1897=)
n.5959C=
c.5336C= (p.Ala1779=)
c.5801C= (p.Ala1934=)
c.5771C= (p.Ala1924=)
c.5369C= (p.Ala1790=)
c.4607C= (p.Ala1536=)
c.3503C= (p.Ala1168=)
21g.46411763C>GCA410556029PCNTn.35C>G
c.5723C>G (p.Ala1908Gly)
c.*4933C>G (n.*4933C>G)
c.5690C>G (p.Ala1897Gly)
n.5959C>G
c.5336C>G (p.Ala1779Gly)
c.5801C>G (p.Ala1934Gly)
c.5771C>G (p.Ala1924Gly)
c.5369C>G (p.Ala1790Gly)
c.4607C>G (p.Ala1536Gly)
c.3503C>G (p.Ala1168Gly)
21g.46411763C>TCA410556030PCNTn.35C>T
c.5723C>T (p.Ala1908Val)
c.*4933C>T (n.*4933C>T)
c.5690C>T (p.Ala1897Val)
n.5959C>T
c.5336C>T (p.Ala1779Val)
c.5801C>T (p.Ala1934Val)
c.5771C>T (p.Ala1924Val)
c.5369C>T (p.Ala1790Val)
c.4607C>T (p.Ala1536Val)
c.3503C>T (p.Ala1168Val)
 dbSNP gnomAD v2 gnomAD v4
21g.46411764delCA2655023889PCNTn.36del
c.5724del (p.Leu1909TrpfsTer?)
c.*4934del (n.*4934del)
c.5691del (p.Leu1898TrpfsTer?)
n.5960del
c.5337del (p.Leu1780TrpfsTer?)
c.5802del (p.Leu1935TrpfsTer?)
c.5772del (p.Leu1925TrpfsTer?)
c.5370del (p.Leu1791TrpfsTer?)
c.4608del (p.Leu1537TrpfsTer?)
c.3504del (p.Leu1169TrpfsTer?)
 gnomAD v4
21g.46411764C>ACA513174364PCNTn.36C>A
c.5724C>A (p.Ala1908=)
c.*4934C>A (n.*4934C>A)
c.5691C>A (p.Ala1897=)
n.5960C>A
c.5337C>A (p.Ala1779=)
c.5802C>A (p.Ala1934=)
c.5772C>A (p.Ala1924=)
c.5370C>A (p.Ala1790=)
c.4608C>A (p.Ala1536=)
c.3504C>A (p.Ala1168=)
21g.46411764C>GCA513174363PCNTn.36C>G
c.5724C>G (p.Ala1908=)
c.*4934C>G (n.*4934C>G)
c.5691C>G (p.Ala1897=)
n.5960C>G
c.5337C>G (p.Ala1779=)
c.5802C>G (p.Ala1934=)
c.5772C>G (p.Ala1924=)
c.5370C>G (p.Ala1790=)
c.4608C>G (p.Ala1536=)
c.3504C>G (p.Ala1168=)
21g.46411764C>TCA513174361PCNTn.36C>T
c.5724C>T (p.Ala1908=)
c.*4934C>T (n.*4934C>T)
c.5691C>T (p.Ala1897=)
n.5960C>T
c.5337C>T (p.Ala1779=)
c.5802C>T (p.Ala1934=)
c.5772C>T (p.Ala1924=)
c.5370C>T (p.Ala1790=)
c.4608C>T (p.Ala1536=)
c.3504C>T (p.Ala1168=)
 dbSNP
21g.46411765T>ACA410556032PCNTn.37T>A
c.5725T>A (p.Leu1909Met)
c.*4935T>A (n.*4935T>A)
c.5692T>A (p.Leu1898Met)
n.5961T>A
c.5338T>A (p.Leu1780Met)
c.5803T>A (p.Leu1935Met)
c.5773T>A (p.Leu1925Met)
c.5371T>A (p.Leu1791Met)
c.4609T>A (p.Leu1537Met)
c.3505T>A (p.Leu1169Met)
21g.46411765T>CCA513174365PCNTn.37T>C
c.5725T>C (p.Leu1909=)
c.*4935T>C (n.*4935T>C)
c.5692T>C (p.Leu1898=)
n.5961T>C
c.5338T>C (p.Leu1780=)
c.5803T>C (p.Leu1935=)
c.5773T>C (p.Leu1925=)
c.5371T>C (p.Leu1791=)
c.4609T>C (p.Leu1537=)
c.3505T>C (p.Leu1169=)
21g.46411765T>GCA410556034PCNTn.37T>G
c.5725T>G (p.Leu1909Val)
c.*4935T>G (n.*4935T>G)
c.5692T>G (p.Leu1898Val)
n.5961T>G
c.5338T>G (p.Leu1780Val)
c.5803T>G (p.Leu1935Val)
c.5773T>G (p.Leu1925Val)
c.5371T>G (p.Leu1791Val)
c.4609T>G (p.Leu1537Val)
c.3505T>G (p.Leu1169Val)
21g.46411766T>ACA410556038PCNTn.38T>A
c.5726T>A (p.Leu1909Ter)
c.*4936T>A (n.*4936T>A)
c.5693T>A (p.Leu1898Ter)
n.5962T>A
c.5339T>A (p.Leu1780Ter)
c.5804T>A (p.Leu1935Ter)
c.5774T>A (p.Leu1925Ter)
c.5372T>A (p.Leu1791Ter)
c.4610T>A (p.Leu1537Ter)
c.3506T>A (p.Leu1169Ter)
21g.46411766T>CCA410556047PCNTn.38T>C
c.5726T>C (p.Leu1909Ser)
c.*4936T>C (n.*4936T>C)
c.5693T>C (p.Leu1898Ser)
n.5962T>C
c.5339T>C (p.Leu1780Ser)
c.5804T>C (p.Leu1935Ser)
c.5774T>C (p.Leu1925Ser)
c.5372T>C (p.Leu1791Ser)
c.4610T>C (p.Leu1537Ser)
c.3506T>C (p.Leu1169Ser)
21g.46411766T>GCA410556044PCNTn.38T>G
c.5726T>G (p.Leu1909Trp)
c.*4936T>G (n.*4936T>G)
c.5693T>G (p.Leu1898Trp)
n.5962T>G
c.5339T>G (p.Leu1780Trp)
c.5804T>G (p.Leu1935Trp)
c.5774T>G (p.Leu1925Trp)
c.5372T>G (p.Leu1791Trp)
c.4610T>G (p.Leu1537Trp)
c.3506T>G (p.Leu1169Trp)
21g.46411767G>ACA513174367PCNTn.39G>A
c.5727G>A (p.Leu1909=)
c.*4937G>A (n.*4937G>A)
c.5694G>A (p.Leu1898=)
n.5963G>A
c.5340G>A (p.Leu1780=)
c.5805G>A (p.Leu1935=)
c.5775G>A (p.Leu1925=)
c.5373G>A (p.Leu1791=)
c.4611G>A (p.Leu1537=)
c.3507G>A (p.Leu1169=)
 gnomAD v4
21g.46411767G>CCA410556049PCNTn.39G>C
c.5727G>C (p.Leu1909Phe)
c.*4937G>C (n.*4937G>C)
c.5694G>C (p.Leu1898Phe)
n.5963G>C
c.5340G>C (p.Leu1780Phe)
c.5805G>C (p.Leu1935Phe)
c.5775G>C (p.Leu1925Phe)
c.5373G>C (p.Leu1791Phe)
c.4611G>C (p.Leu1537Phe)
c.3507G>C (p.Leu1169Phe)
21g.46411767G=CA2392665044PCNTn.39G=
c.5727G= (p.Leu1909=)
c.*4937G= (n.*4937G=)
c.5694G= (p.Leu1898=)
n.5963G=
c.5340G= (p.Leu1780=)
c.5805G= (p.Leu1935=)
c.5775G= (p.Leu1925=)
c.5373G= (p.Leu1791=)
c.4611G= (p.Leu1537=)
c.3507G= (p.Leu1169=)
21g.46411767G>TCA10080062PCNTn.39G>T
c.5727G>T (p.Leu1909Phe)
c.*4937G>T (n.*4937G>T)
c.5694G>T (p.Leu1898Phe)
n.5963G>T
c.5340G>T (p.Leu1780Phe)
c.5805G>T (p.Leu1935Phe)
c.5775G>T (p.Leu1925Phe)
c.5373G>T (p.Leu1791Phe)
c.4611G>T (p.Leu1537Phe)
c.3507G>T (p.Leu1169Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411768G>ACA410556051PCNTn.40G>A
c.5728G>A (p.Ala1910Thr)
c.*4938G>A (n.*4938G>A)
c.5695G>A (p.Ala1899Thr)
n.5964G>A
c.5341G>A (p.Ala1781Thr)
c.5806G>A (p.Ala1936Thr)
c.5776G>A (p.Ala1926Thr)
c.5374G>A (p.Ala1792Thr)
c.4612G>A (p.Ala1538Thr)
c.3508G>A (p.Ala1170Thr)
21g.46411768G>CCA410556053PCNTn.40G>C
c.5728G>C (p.Ala1910Pro)
c.*4938G>C (n.*4938G>C)
c.5695G>C (p.Ala1899Pro)
n.5964G>C
c.5341G>C (p.Ala1781Pro)
c.5806G>C (p.Ala1936Pro)
c.5776G>C (p.Ala1926Pro)
c.5374G>C (p.Ala1792Pro)
c.4612G>C (p.Ala1538Pro)
c.3508G>C (p.Ala1170Pro)
21g.46411768G=CA2392665045PCNTn.40G=
c.5728G= (p.Ala1910=)
c.*4938G= (n.*4938G=)
c.5695G= (p.Ala1899=)
n.5964G=
c.5341G= (p.Ala1781=)
c.5806G= (p.Ala1936=)
c.5776G= (p.Ala1926=)
c.5374G= (p.Ala1792=)
c.4612G= (p.Ala1538=)
c.3508G= (p.Ala1170=)
21g.46411768G>TCA321998131PCNTn.40G>T
c.5728G>T (p.Ala1910Ser)
c.*4938G>T (n.*4938G>T)
c.5695G>T (p.Ala1899Ser)
n.5964G>T
c.5341G>T (p.Ala1781Ser)
c.5806G>T (p.Ala1936Ser)
c.5776G>T (p.Ala1926Ser)
c.5374G>T (p.Ala1792Ser)
c.4612G>T (p.Ala1538Ser)
c.3508G>T (p.Ala1170Ser)
 dbSNP gnomAD v3 gnomAD v4
21g.46411769C>ACA410556060PCNTn.41C>A
c.5729C>A (p.Ala1910Asp)
c.*4939C>A (n.*4939C>A)
c.5696C>A (p.Ala1899Asp)
n.5965C>A
c.5342C>A (p.Ala1781Asp)
c.5807C>A (p.Ala1936Asp)
c.5777C>A (p.Ala1926Asp)
c.5375C>A (p.Ala1792Asp)
c.4613C>A (p.Ala1538Asp)
c.3509C>A (p.Ala1170Asp)
21g.46411769C>GCA410556064PCNTn.41C>G
c.5729C>G (p.Ala1910Gly)
c.*4939C>G (n.*4939C>G)
c.5696C>G (p.Ala1899Gly)
n.5965C>G
c.5342C>G (p.Ala1781Gly)
c.5807C>G (p.Ala1936Gly)
c.5777C>G (p.Ala1926Gly)
c.5375C>G (p.Ala1792Gly)
c.4613C>G (p.Ala1538Gly)
c.3509C>G (p.Ala1170Gly)
21g.46411769C>TCA410556068PCNTn.41C>T
c.5729C>T (p.Ala1910Val)
c.*4939C>T (n.*4939C>T)
c.5696C>T (p.Ala1899Val)
n.5965C>T
c.5342C>T (p.Ala1781Val)
c.5807C>T (p.Ala1936Val)
c.5777C>T (p.Ala1926Val)
c.5375C>T (p.Ala1792Val)
c.4613C>T (p.Ala1538Val)
c.3509C>T (p.Ala1170Val)
21g.46411770C>ACA513174369PCNTn.42C>A
c.5730C>A (p.Ala1910=)
c.*4940C>A (n.*4940C>A)
c.5697C>A (p.Ala1899=)
n.5966C>A
c.5343C>A (p.Ala1781=)
c.5808C>A (p.Ala1936=)
c.5778C>A (p.Ala1926=)
c.5376C>A (p.Ala1792=)
c.4614C>A (p.Ala1538=)
c.3510C>A (p.Ala1170=)
21g.46411770C>GCA513174370PCNTn.42C>G
c.5730C>G (p.Ala1910=)
c.*4940C>G (n.*4940C>G)
c.5697C>G (p.Ala1899=)
n.5966C>G
c.5343C>G (p.Ala1781=)
c.5808C>G (p.Ala1936=)
c.5778C>G (p.Ala1926=)
c.5376C>G (p.Ala1792=)
c.4614C>G (p.Ala1538=)
c.3510C>G (p.Ala1170=)
21g.46411770C>TCA513174372PCNTn.42C>T
c.5730C>T (p.Ala1910=)
c.*4940C>T (n.*4940C>T)
c.5697C>T (p.Ala1899=)
n.5966C>T
c.5343C>T (p.Ala1781=)
c.5808C>T (p.Ala1936=)
c.5778C>T (p.Ala1926=)
c.5376C>T (p.Ala1792=)
c.4614C>T (p.Ala1538=)
c.3510C>T (p.Ala1170=)
21g.46411771C>ACA410556069PCNTn.43C>A
c.5731C>A (p.Arg1911Ser)
c.*4941C>A (n.*4941C>A)
c.5698C>A (p.Arg1900Ser)
n.5967C>A
c.5344C>A (p.Arg1782Ser)
c.5809C>A (p.Arg1937Ser)
c.5779C>A (p.Arg1927Ser)
c.5377C>A (p.Arg1793Ser)
c.4615C>A (p.Arg1539Ser)
c.3511C>A (p.Arg1171Ser)
21g.46411771C=CA2392665046PCNTn.43C=
c.5731C= (p.Arg1911=)
c.*4941C= (n.*4941C=)
c.5698C= (p.Arg1900=)
n.5967C=
c.5344C= (p.Arg1782=)
c.5809C= (p.Arg1937=)
c.5779C= (p.Arg1927=)
c.5377C= (p.Arg1793=)
c.4615C= (p.Arg1539=)
c.3511C= (p.Arg1171=)
21g.46411771C>GCA10080064PCNTn.43C>G
c.5731C>G (p.Arg1911Gly)
c.*4941C>G (n.*4941C>G)
c.5698C>G (p.Arg1900Gly)
n.5967C>G
c.5344C>G (p.Arg1782Gly)
c.5809C>G (p.Arg1937Gly)
c.5779C>G (p.Arg1927Gly)
c.5377C>G (p.Arg1793Gly)
c.4615C>G (p.Arg1539Gly)
c.3511C>G (p.Arg1171Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46411771C>TCA10080063PCNTn.43C>T
c.5731C>T (p.Arg1911Cys)
c.*4941C>T (n.*4941C>T)
c.5698C>T (p.Arg1900Cys)
n.5967C>T
c.5344C>T (p.Arg1782Cys)
c.5809C>T (p.Arg1937Cys)
c.5779C>T (p.Arg1927Cys)
c.5377C>T (p.Arg1793Cys)
c.4615C>T (p.Arg1539Cys)
c.3511C>T (p.Arg1171Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411772G>ACA10080065PCNTn.44G>A
c.5732G>A (p.Arg1911His)
c.*4942G>A (n.*4942G>A)
c.5699G>A (p.Arg1900His)
n.5968G>A
c.5345G>A (p.Arg1782His)
c.5810G>A (p.Arg1937His)
c.5780G>A (p.Arg1927His)
c.5378G>A (p.Arg1793His)
c.4616G>A (p.Arg1539His)
c.3512G>A (p.Arg1171His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411772G>CCA410556073PCNTn.44G>C
c.5732G>C (p.Arg1911Pro)
c.*4942G>C (n.*4942G>C)
c.5699G>C (p.Arg1900Pro)
n.5968G>C
c.5345G>C (p.Arg1782Pro)
c.5810G>C (p.Arg1937Pro)
c.5780G>C (p.Arg1927Pro)
c.5378G>C (p.Arg1793Pro)
c.4616G>C (p.Arg1539Pro)
c.3512G>C (p.Arg1171Pro)
 dbSNP gnomAD v3 gnomAD v4
21g.46411772G=CA2392665047PCNTn.44G=
c.5732G= (p.Arg1911=)
c.*4942G= (n.*4942G=)
c.5699G= (p.Arg1900=)
n.5968G=
c.5345G= (p.Arg1782=)
c.5810G= (p.Arg1937=)
c.5780G= (p.Arg1927=)
c.5378G= (p.Arg1793=)
c.4616G= (p.Arg1539=)
c.3512G= (p.Arg1171=)
21g.46411772G>TCA410556071PCNTn.44G>T
c.5732G>T (p.Arg1911Leu)
c.*4942G>T (n.*4942G>T)
c.5699G>T (p.Arg1900Leu)
n.5968G>T
c.5345G>T (p.Arg1782Leu)
c.5810G>T (p.Arg1937Leu)
c.5780G>T (p.Arg1927Leu)
c.5378G>T (p.Arg1793Leu)
c.4616G>T (p.Arg1539Leu)
c.3512G>T (p.Arg1171Leu)
 gnomAD v4
21g.46411773C>ACA513174378PCNTn.45C>A
c.5733C>A (p.Arg1911=)
c.*4943C>A (n.*4943C>A)
c.5700C>A (p.Arg1900=)
n.5969C>A
c.5346C>A (p.Arg1782=)
c.5811C>A (p.Arg1937=)
c.5781C>A (p.Arg1927=)
c.5379C>A (p.Arg1793=)
c.4617C>A (p.Arg1539=)
c.3513C>A (p.Arg1171=)
21g.46411773C>GCA513174377PCNTn.45C>G
c.5733C>G (p.Arg1911=)
c.*4943C>G (n.*4943C>G)
c.5700C>G (p.Arg1900=)
n.5969C>G
c.5346C>G (p.Arg1782=)
c.5811C>G (p.Arg1937=)
c.5781C>G (p.Arg1927=)
c.5379C>G (p.Arg1793=)
c.4617C>G (p.Arg1539=)
c.3513C>G (p.Arg1171=)
21g.46411773C>TCA513174376PCNTn.45C>T
c.5733C>T (p.Arg1911=)
c.*4943C>T (n.*4943C>T)
c.5700C>T (p.Arg1900=)
n.5969C>T
c.5346C>T (p.Arg1782=)
c.5811C>T (p.Arg1937=)
c.5781C>T (p.Arg1927=)
c.5379C>T (p.Arg1793=)
c.4617C>T (p.Arg1539=)
c.3513C>T (p.Arg1171=)
 gnomAD v4
21g.46411774A=CA2392665048PCNTn.46A=
c.5734A= (p.Ile1912=)
c.*4944A= (n.*4944A=)
c.5701A= (p.Ile1901=)
n.5970A=
c.5347A= (p.Ile1783=)
c.5812A= (p.Ile1938=)
c.5782A= (p.Ile1928=)
c.5380A= (p.Ile1794=)
c.4618A= (p.Ile1540=)
c.3514A= (p.Ile1172=)
21g.46411774A>CCA410556079PCNTn.46A>C
c.5734A>C (p.Ile1912Leu)
c.*4944A>C (n.*4944A>C)
c.5701A>C (p.Ile1901Leu)
n.5970A>C
c.5347A>C (p.Ile1783Leu)
c.5812A>C (p.Ile1938Leu)
c.5782A>C (p.Ile1928Leu)
c.5380A>C (p.Ile1794Leu)
c.4618A>C (p.Ile1540Leu)
c.3514A>C (p.Ile1172Leu)
21g.46411774A>GCA10080066PCNTn.46A>G
c.5734A>G (p.Ile1912Val)
c.*4944A>G (n.*4944A>G)
c.5701A>G (p.Ile1901Val)
n.5970A>G
c.5347A>G (p.Ile1783Val)
c.5812A>G (p.Ile1938Val)
c.5782A>G (p.Ile1928Val)
c.5380A>G (p.Ile1794Val)
c.4618A>G (p.Ile1540Val)
c.3514A>G (p.Ile1172Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411774A>TCA410556091PCNTn.46A>T
c.5734A>T (p.Ile1912Phe)
c.*4944A>T (n.*4944A>T)
c.5701A>T (p.Ile1901Phe)
n.5970A>T
c.5347A>T (p.Ile1783Phe)
c.5812A>T (p.Ile1938Phe)
c.5782A>T (p.Ile1928Phe)
c.5380A>T (p.Ile1794Phe)
c.4618A>T (p.Ile1540Phe)
c.3514A>T (p.Ile1172Phe)
21g.46411775T>ACA410556093PCNTn.47T>A
c.5735T>A (p.Ile1912Asn)
c.*4945T>A (n.*4945T>A)
c.5702T>A (p.Ile1901Asn)
n.5971T>A
c.5348T>A (p.Ile1783Asn)
c.5813T>A (p.Ile1938Asn)
c.5783T>A (p.Ile1928Asn)
c.5381T>A (p.Ile1794Asn)
c.4619T>A (p.Ile1540Asn)
c.3515T>A (p.Ile1172Asn)
21g.46411775T>CCA410556096PCNTn.47T>C
c.5735T>C (p.Ile1912Thr)
c.*4945T>C (n.*4945T>C)
c.5702T>C (p.Ile1901Thr)
n.5971T>C
c.5348T>C (p.Ile1783Thr)
c.5813T>C (p.Ile1938Thr)
c.5783T>C (p.Ile1928Thr)
c.5381T>C (p.Ile1794Thr)
c.4619T>C (p.Ile1540Thr)
c.3515T>C (p.Ile1172Thr)
21g.46411775T>GCA410556099PCNTn.47T>G
c.5735T>G (p.Ile1912Ser)
c.*4945T>G (n.*4945T>G)
c.5702T>G (p.Ile1901Ser)
n.5971T>G
c.5348T>G (p.Ile1783Ser)
c.5813T>G (p.Ile1938Ser)
c.5783T>G (p.Ile1928Ser)
c.5381T>G (p.Ile1794Ser)
c.4619T>G (p.Ile1540Ser)
c.3515T>G (p.Ile1172Ser)
21g.46411776C>ACA513174383PCNTn.48C>A
c.5736C>A (p.Ile1912=)
c.*4946C>A (n.*4946C>A)
c.5703C>A (p.Ile1901=)
n.5972C>A
c.5349C>A (p.Ile1783=)
c.5814C>A (p.Ile1938=)
c.5784C>A (p.Ile1928=)
c.5382C>A (p.Ile1794=)
c.4620C>A (p.Ile1540=)
c.3516C>A (p.Ile1172=)
21g.46411776C=CA2392665049PCNTn.48C=
c.5736C= (p.Ile1912=)
c.*4946C= (n.*4946C=)
c.5703C= (p.Ile1901=)
n.5972C=
c.5349C= (p.Ile1783=)
c.5814C= (p.Ile1938=)
c.5784C= (p.Ile1928=)
c.5382C= (p.Ile1794=)
c.4620C= (p.Ile1540=)
c.3516C= (p.Ile1172=)
21g.46411776C>GCA10080067PCNTn.48C>G
c.5736C>G (p.Ile1912Met)
c.*4946C>G (n.*4946C>G)
c.5703C>G (p.Ile1901Met)
n.5972C>G
c.5349C>G (p.Ile1783Met)
c.5814C>G (p.Ile1938Met)
c.5784C>G (p.Ile1928Met)
c.5382C>G (p.Ile1794Met)
c.4620C>G (p.Ile1540Met)
c.3516C>G (p.Ile1172Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411776C>TCA513174385PCNTn.48C>T
c.5736C>T (p.Ile1912=)
c.*4946C>T (n.*4946C>T)
c.5703C>T (p.Ile1901=)
n.5972C>T
c.5349C>T (p.Ile1783=)
c.5814C>T (p.Ile1938=)
c.5784C>T (p.Ile1928=)
c.5382C>T (p.Ile1794=)
c.4620C>T (p.Ile1540=)
c.3516C>T (p.Ile1172=)
 gnomAD v4
21g.46411777C>ACA410556113PCNTn.49C>A
c.5737C>A (p.Arg1913Ser)
c.*4947C>A (n.*4947C>A)
c.5704C>A (p.Arg1902Ser)
n.5973C>A
c.5350C>A (p.Arg1784Ser)
c.5815C>A (p.Arg1939Ser)
c.5785C>A (p.Arg1929Ser)
c.5383C>A (p.Arg1795Ser)
c.4621C>A (p.Arg1541Ser)
c.3517C>A (p.Arg1173Ser)
21g.46411777C=CA2392665050PCNTn.49C=
c.5737C= (p.Arg1913=)
c.*4947C= (n.*4947C=)
c.5704C= (p.Arg1902=)
n.5973C=
c.5350C= (p.Arg1784=)
c.5815C= (p.Arg1939=)
c.5785C= (p.Arg1929=)
c.5383C= (p.Arg1795=)
c.4621C= (p.Arg1541=)
c.3517C= (p.Arg1173=)
21g.46411777C>GCA410556117PCNTn.49C>G
c.5737C>G (p.Arg1913Gly)
c.*4947C>G (n.*4947C>G)
c.5704C>G (p.Arg1902Gly)
n.5973C>G
c.5350C>G (p.Arg1784Gly)
c.5815C>G (p.Arg1939Gly)
c.5785C>G (p.Arg1929Gly)
c.5383C>G (p.Arg1795Gly)
c.4621C>G (p.Arg1541Gly)
c.3517C>G (p.Arg1173Gly)
21g.46411777C>TCA10080068PCNTn.49C>T
c.5737C>T (p.Arg1913Cys)
c.*4947C>T (n.*4947C>T)
c.5704C>T (p.Arg1902Cys)
n.5973C>T
c.5350C>T (p.Arg1784Cys)
c.5815C>T (p.Arg1939Cys)
c.5785C>T (p.Arg1929Cys)
c.5383C>T (p.Arg1795Cys)
c.4621C>T (p.Arg1541Cys)
c.3517C>T (p.Arg1173Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411778G>ACA206227PCNTn.50G>A
c.5738G>A (p.Arg1913His)
c.*4948G>A (n.*4948G>A)
c.5705G>A (p.Arg1902His)
n.5974G>A
c.5351G>A (p.Arg1784His)
c.5816G>A (p.Arg1939His)
c.5786G>A (p.Arg1929His)
c.5384G>A (p.Arg1795His)
c.4622G>A (p.Arg1541His)
c.3518G>A (p.Arg1173His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411778G>CCA410556127PCNTn.50G>C
c.5738G>C (p.Arg1913Pro)
c.*4948G>C (n.*4948G>C)
c.5705G>C (p.Arg1902Pro)
n.5974G>C
c.5351G>C (p.Arg1784Pro)
c.5816G>C (p.Arg1939Pro)
c.5786G>C (p.Arg1929Pro)
c.5384G>C (p.Arg1795Pro)
c.4622G>C (p.Arg1541Pro)
c.3518G>C (p.Arg1173Pro)
21g.46411778G=CA2392665051PCNTn.50G=
c.5738G= (p.Arg1913=)
c.*4948G= (n.*4948G=)
c.5705G= (p.Arg1902=)
n.5974G=
c.5351G= (p.Arg1784=)
c.5816G= (p.Arg1939=)
c.5786G= (p.Arg1929=)
c.5384G= (p.Arg1795=)
c.4622G= (p.Arg1541=)
c.3518G= (p.Arg1173=)
21g.46411778G>TCA410556132PCNTn.50G>T
c.5738G>T (p.Arg1913Leu)
c.*4948G>T (n.*4948G>T)
c.5705G>T (p.Arg1902Leu)
n.5974G>T
c.5351G>T (p.Arg1784Leu)
c.5816G>T (p.Arg1939Leu)
c.5786G>T (p.Arg1929Leu)
c.5384G>T (p.Arg1795Leu)
c.4622G>T (p.Arg1541Leu)
c.3518G>T (p.Arg1173Leu)
 dbSNP gnomAD v4
21g.46411779C>ACA513174389PCNTn.51C>A
c.5739C>A (p.Arg1913=)
c.*4949C>A (n.*4949C>A)
c.5706C>A (p.Arg1902=)
n.5975C>A
c.5352C>A (p.Arg1784=)
c.5817C>A (p.Arg1939=)
c.5787C>A (p.Arg1929=)
c.5385C>A (p.Arg1795=)
c.4623C>A (p.Arg1541=)
c.3519C>A (p.Arg1173=)
21g.46411779C>GCA513174391PCNTn.51C>G
c.5739C>G (p.Arg1913=)
c.*4949C>G (n.*4949C>G)
c.5706C>G (p.Arg1902=)
n.5975C>G
c.5352C>G (p.Arg1784=)
c.5817C>G (p.Arg1939=)
c.5787C>G (p.Arg1929=)
c.5385C>G (p.Arg1795=)
c.4623C>G (p.Arg1541=)
c.3519C>G (p.Arg1173=)
21g.46411779C>TCA513174392PCNTn.51C>T
c.5739C>T (p.Arg1913=)
c.*4949C>T (n.*4949C>T)
c.5706C>T (p.Arg1902=)
n.5975C>T
c.5352C>T (p.Arg1784=)
c.5817C>T (p.Arg1939=)
c.5787C>T (p.Arg1929=)
c.5385C>T (p.Arg1795=)
c.4623C>T (p.Arg1541=)
c.3519C>T (p.Arg1173=)
 gnomAD v4
21g.46411784_46411785insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGCCA2521015499PCNTn.56_57insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC
c.5744_5745insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1915_Leu1916insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla)
c.*4954_*4955insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (n.*4954_*4955insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC)
c.5711_5712insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1904_Leu1905insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla)
n.5980_5981insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC
c.5357_5358insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1786_Leu1787insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla)
c.5822_5823insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1941_Leu1942insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla)
c.5792_5793insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1931_Leu1932insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla)
c.5390_5391insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1797_Leu1798insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla)
c.4628_4629insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1543_Leu1544insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla)
c.3524_3525insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1175_Leu1176insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla)
21g.46411780C>ACA410556142PCNTn.52C>A
c.5740C>A (p.Arg1914Ser)
c.*4950C>A (n.*4950C>A)
c.5707C>A (p.Arg1903Ser)
n.5976C>A
c.5353C>A (p.Arg1785Ser)
c.5818C>A (p.Arg1940Ser)
c.5788C>A (p.Arg1930Ser)
c.5386C>A (p.Arg1796Ser)
c.4624C>A (p.Arg1542Ser)
c.3520C>A (p.Arg1174Ser)
 gnomAD v4
21g.46411780C=CA2392665052PCNTn.52C=
c.5740C= (p.Arg1914=)
c.*4950C= (n.*4950C=)
c.5707C= (p.Arg1903=)
n.5976C=
c.5353C= (p.Arg1785=)
c.5818C= (p.Arg1940=)
c.5788C= (p.Arg1930=)
c.5386C= (p.Arg1796=)
c.4624C= (p.Arg1542=)
c.3520C= (p.Arg1174=)
21g.46411780C>GCA410556145PCNTn.52C>G
c.5740C>G (p.Arg1914Gly)
c.*4950C>G (n.*4950C>G)
c.5707C>G (p.Arg1903Gly)
n.5976C>G
c.5353C>G (p.Arg1785Gly)
c.5818C>G (p.Arg1940Gly)
c.5788C>G (p.Arg1930Gly)
c.5386C>G (p.Arg1796Gly)
c.4624C>G (p.Arg1542Gly)
c.3520C>G (p.Arg1174Gly)
 dbSNP
21g.46411780C>TCA10080069PCNTn.52C>T
c.5740C>T (p.Arg1914Cys)
c.*4950C>T (n.*4950C>T)
c.5707C>T (p.Arg1903Cys)
n.5976C>T
c.5353C>T (p.Arg1785Cys)
c.5818C>T (p.Arg1940Cys)
c.5788C>T (p.Arg1930Cys)
c.5386C>T (p.Arg1796Cys)
c.4624C>T (p.Arg1542Cys)
c.3520C>T (p.Arg1174Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411780_46411781delinsTTCA2573054965PCNTn.52_53delinsTT
c.5740_5741delinsTT (p.Arg1914Phe)
c.*4950_*4951delinsTT (n.*4950_*4951delinsTT)
c.5707_5708delinsTT (p.Arg1903Phe)
n.5976_5977delinsTT
c.5353_5354delinsTT (p.Arg1785Phe)
c.5818_5819delinsTT (p.Arg1940Phe)
c.5788_5789delinsTT (p.Arg1930Phe)
c.5386_5387delinsTT (p.Arg1796Phe)
c.4624_4625delinsTT (p.Arg1542Phe)
c.3520_3521delinsTT (p.Arg1174Phe)
 ClinVar dbSNP
21g.46411781G>ACA410556149PCNTn.53G>A
c.5741G>A (p.Arg1914His)
c.*4951G>A (n.*4951G>A)
c.5708G>A (p.Arg1903His)
n.5977G>A
c.5354G>A (p.Arg1785His)
c.5819G>A (p.Arg1940His)
c.5789G>A (p.Arg1930His)
c.5387G>A (p.Arg1796His)
c.4625G>A (p.Arg1542His)
c.3521G>A (p.Arg1174His)
 ClinVar dbSNP gnomAD v4 COSMIC
21g.46411781G>CCA410556157PCNTn.53G>C
c.5741G>C (p.Arg1914Pro)
c.*4951G>C (n.*4951G>C)
c.5708G>C (p.Arg1903Pro)
n.5977G>C
c.5354G>C (p.Arg1785Pro)
c.5819G>C (p.Arg1940Pro)
c.5789G>C (p.Arg1930Pro)
c.5387G>C (p.Arg1796Pro)
c.4625G>C (p.Arg1542Pro)
c.3521G>C (p.Arg1174Pro)
21g.46411781G=CA2392665053PCNTn.53G=
c.5741G= (p.Arg1914=)
c.*4951G= (n.*4951G=)
c.5708G= (p.Arg1903=)
n.5977G=
c.5354G= (p.Arg1785=)
c.5819G= (p.Arg1940=)
c.5789G= (p.Arg1930=)
c.5387G= (p.Arg1796=)
c.4625G= (p.Arg1542=)
c.3521G= (p.Arg1174=)
21g.46411781G>TCA10080070PCNTn.53G>T
c.5741G>T (p.Arg1914Leu)
c.*4951G>T (n.*4951G>T)
c.5708G>T (p.Arg1903Leu)
n.5977G>T
c.5354G>T (p.Arg1785Leu)
c.5819G>T (p.Arg1940Leu)
c.5789G>T (p.Arg1930Leu)
c.5387G>T (p.Arg1796Leu)
c.4625G>T (p.Arg1542Leu)
c.3521G>T (p.Arg1174Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411782C>ACA513174401PCNTn.54C>A
c.5742C>A (p.Arg1914=)
c.*4952C>A (n.*4952C>A)
c.5709C>A (p.Arg1903=)
n.5978C>A
c.5355C>A (p.Arg1785=)
c.5820C>A (p.Arg1940=)
c.5790C>A (p.Arg1930=)
c.5388C>A (p.Arg1796=)
c.4626C>A (p.Arg1542=)
c.3522C>A (p.Arg1174=)
21g.46411782C=CA2392665054PCNTn.54C=
c.5742C= (p.Arg1914=)
c.*4952C= (n.*4952C=)
c.5709C= (p.Arg1903=)
n.5978C=
c.5355C= (p.Arg1785=)
c.5820C= (p.Arg1940=)
c.5790C= (p.Arg1930=)
c.5388C= (p.Arg1796=)
c.4626C= (p.Arg1542=)
c.3522C= (p.Arg1174=)
21g.46411782C>GCA513174399PCNTn.54C>G
c.5742C>G (p.Arg1914=)
c.*4952C>G (n.*4952C>G)
c.5709C>G (p.Arg1903=)
n.5978C>G
c.5355C>G (p.Arg1785=)
c.5820C>G (p.Arg1940=)
c.5790C>G (p.Arg1930=)
c.5388C>G (p.Arg1796=)
c.4626C>G (p.Arg1542=)
c.3522C>G (p.Arg1174=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46411782C>TCA10080071PCNTn.54C>T
c.5742C>T (p.Arg1914=)
c.*4952C>T (n.*4952C>T)
c.5709C>T (p.Arg1903=)
n.5978C>T
c.5355C>T (p.Arg1785=)
c.5820C>T (p.Arg1940=)
c.5790C>T (p.Arg1930=)
c.5388C>T (p.Arg1796=)
c.4626C>T (p.Arg1542=)
c.3522C>T (p.Arg1174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411783G>ACA10080072PCNTn.55G>A
c.5743G>A (p.Ala1915Thr)
c.*4953G>A (n.*4953G>A)
c.5710G>A (p.Ala1904Thr)
n.5979G>A
c.5356G>A (p.Ala1786Thr)
c.5821G>A (p.Ala1941Thr)
c.5791G>A (p.Ala1931Thr)
c.5389G>A (p.Ala1797Thr)
c.4627G>A (p.Ala1543Thr)
c.3523G>A (p.Ala1175Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.46411783G>CCA410556168PCNTn.55G>C
c.5743G>C (p.Ala1915Pro)
c.*4953G>C (n.*4953G>C)
c.5710G>C (p.Ala1904Pro)
n.5979G>C
c.5356G>C (p.Ala1786Pro)
c.5821G>C (p.Ala1941Pro)
c.5791G>C (p.Ala1931Pro)
c.5389G>C (p.Ala1797Pro)
c.4627G>C (p.Ala1543Pro)
c.3523G>C (p.Ala1175Pro)
 dbSNP
21g.46411783G=CA2392665055PCNTn.55G=
c.5743G= (p.Ala1915=)
c.*4953G= (n.*4953G=)
c.5710G= (p.Ala1904=)
n.5979G=
c.5356G= (p.Ala1786=)
c.5821G= (p.Ala1941=)
c.5791G= (p.Ala1931=)
c.5389G= (p.Ala1797=)
c.4627G= (p.Ala1543=)
c.3523G= (p.Ala1175=)
21g.46411783G>TCA410556174PCNTn.55G>T
c.5743G>T (p.Ala1915Ser)
c.*4953G>T (n.*4953G>T)
c.5710G>T (p.Ala1904Ser)
n.5979G>T
c.5356G>T (p.Ala1786Ser)
c.5821G>T (p.Ala1941Ser)
c.5791G>T (p.Ala1931Ser)
c.5389G>T (p.Ala1797Ser)
c.4627G>T (p.Ala1543Ser)
c.3523G>T (p.Ala1175Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46411784C>ACA410556178PCNTn.56C>A
c.5744C>A (p.Ala1915Asp)
c.*4954C>A (n.*4954C>A)
c.5711C>A (p.Ala1904Asp)
n.5980C>A
c.5357C>A (p.Ala1786Asp)
c.5822C>A (p.Ala1941Asp)
c.5792C>A (p.Ala1931Asp)
c.5390C>A (p.Ala1797Asp)
c.4628C>A (p.Ala1543Asp)
c.3524C>A (p.Ala1175Asp)
21g.46411784C>GCA410556181PCNTn.56C>G
c.5744C>G (p.Ala1915Gly)
c.*4954C>G (n.*4954C>G)
c.5711C>G (p.Ala1904Gly)
n.5980C>G
c.5357C>G (p.Ala1786Gly)
c.5822C>G (p.Ala1941Gly)
c.5792C>G (p.Ala1931Gly)
c.5390C>G (p.Ala1797Gly)
c.4628C>G (p.Ala1543Gly)
c.3524C>G (p.Ala1175Gly)
21g.46411784C>TCA410556187PCNTn.56C>T
c.5744C>T (p.Ala1915Val)
c.*4954C>T (n.*4954C>T)
c.5711C>T (p.Ala1904Val)
n.5980C>T
c.5357C>T (p.Ala1786Val)
c.5822C>T (p.Ala1941Val)
c.5792C>T (p.Ala1931Val)
c.5390C>T (p.Ala1797Val)
c.4628C>T (p.Ala1543Val)
c.3524C>T (p.Ala1175Val)
21g.46411785C>ACA513174404PCNTn.57C>A
c.5745C>A (p.Ala1915=)
c.*4955C>A (n.*4955C>A)
c.5712C>A (p.Ala1904=)
n.5981C>A
c.5358C>A (p.Ala1786=)
c.5823C>A (p.Ala1941=)
c.5793C>A (p.Ala1931=)
c.5391C>A (p.Ala1797=)
c.4629C>A (p.Ala1543=)
c.3525C>A (p.Ala1175=)
21g.46411785C=CA2392665056PCNTn.57C=
c.5745C= (p.Ala1915=)
c.*4955C= (n.*4955C=)
c.5712C= (p.Ala1904=)
n.5981C=
c.5358C= (p.Ala1786=)
c.5823C= (p.Ala1941=)
c.5793C= (p.Ala1931=)
c.5391C= (p.Ala1797=)
c.4629C= (p.Ala1543=)
c.3525C= (p.Ala1175=)
21g.46411785C>GCA513174405PCNTn.57C>G
c.5745C>G (p.Ala1915=)
c.*4955C>G (n.*4955C>G)
c.5712C>G (p.Ala1904=)
n.5981C>G
c.5358C>G (p.Ala1786=)
c.5823C>G (p.Ala1941=)
c.5793C>G (p.Ala1931=)
c.5391C>G (p.Ala1797=)
c.4629C>G (p.Ala1543=)
c.3525C>G (p.Ala1175=)
21g.46411785C>TCA10080073PCNTn.57C>T
c.5745C>T (p.Ala1915=)
c.*4955C>T (n.*4955C>T)
c.5712C>T (p.Ala1904=)
n.5981C>T
c.5358C>T (p.Ala1786=)
c.5823C>T (p.Ala1941=)
c.5793C>T (p.Ala1931=)
c.5391C>T (p.Ala1797=)
c.4629C>T (p.Ala1543=)
c.3525C>T (p.Ala1175=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411786C>ACA410556195PCNTn.58C>A
c.5746C>A (p.Leu1916Met)
c.*4956C>A (n.*4956C>A)
c.5713C>A (p.Leu1905Met)
n.5982C>A
c.5359C>A (p.Leu1787Met)
c.5824C>A (p.Leu1942Met)
c.5794C>A (p.Leu1932Met)
c.5392C>A (p.Leu1798Met)
c.4630C>A (p.Leu1544Met)
c.3526C>A (p.Leu1176Met)
21g.46411786C>GCA410556198PCNTn.58C>G
c.5746C>G (p.Leu1916Val)
c.*4956C>G (n.*4956C>G)
c.5713C>G (p.Leu1905Val)
n.5982C>G
c.5359C>G (p.Leu1787Val)
c.5824C>G (p.Leu1942Val)
c.5794C>G (p.Leu1932Val)
c.5392C>G (p.Leu1798Val)
c.4630C>G (p.Leu1544Val)
c.3526C>G (p.Leu1176Val)
21g.46411786C>TCA513174406PCNTn.58C>T
c.5746C>T (p.Leu1916=)
c.*4956C>T (n.*4956C>T)
c.5713C>T (p.Leu1905=)
n.5982C>T
c.5359C>T (p.Leu1787=)
c.5824C>T (p.Leu1942=)
c.5794C>T (p.Leu1932=)
c.5392C>T (p.Leu1798=)
c.4630C>T (p.Leu1544=)
c.3526C>T (p.Leu1176=)
21g.46411787T>ACA410556202PCNTn.59T>A
c.5747T>A (p.Leu1916Gln)
c.*4957T>A (n.*4957T>A)
c.5714T>A (p.Leu1905Gln)
n.5983T>A
c.5360T>A (p.Leu1787Gln)
c.5825T>A (p.Leu1942Gln)
c.5795T>A (p.Leu1932Gln)
c.5393T>A (p.Leu1798Gln)
c.4631T>A (p.Leu1544Gln)
c.3527T>A (p.Leu1176Gln)
21g.46411787T>CCA410556217PCNTn.59T>C
c.5747T>C (p.Leu1916Pro)
c.*4957T>C (n.*4957T>C)
c.5714T>C (p.Leu1905Pro)
n.5983T>C
c.5360T>C (p.Leu1787Pro)
c.5825T>C (p.Leu1942Pro)
c.5795T>C (p.Leu1932Pro)
c.5393T>C (p.Leu1798Pro)
c.4631T>C (p.Leu1544Pro)
c.3527T>C (p.Leu1176Pro)
 gnomAD v4
21g.46411787T>GCA410556220PCNTn.59T>G
c.5747T>G (p.Leu1916Arg)
c.*4957T>G (n.*4957T>G)
c.5714T>G (p.Leu1905Arg)
n.5983T>G
c.5360T>G (p.Leu1787Arg)
c.5825T>G (p.Leu1942Arg)
c.5795T>G (p.Leu1932Arg)
c.5393T>G (p.Leu1798Arg)
c.4631T>G (p.Leu1544Arg)
c.3527T>G (p.Leu1176Arg)
21g.46411788G>ACA513174407PCNTn.60G>A
c.5748G>A (p.Leu1916=)
c.*4958G>A (n.*4958G>A)
c.5715G>A (p.Leu1905=)
n.5984G>A
c.5361G>A (p.Leu1787=)
c.5826G>A (p.Leu1942=)
c.5796G>A (p.Leu1932=)
c.5394G>A (p.Leu1798=)
c.4632G>A (p.Leu1544=)
c.3528G>A (p.Leu1176=)
21g.46411788G>CCA513174408PCNTn.60G>C
c.5748G>C (p.Leu1916=)
c.*4958G>C (n.*4958G>C)
c.5715G>C (p.Leu1905=)
n.5984G>C
c.5361G>C (p.Leu1787=)
c.5826G>C (p.Leu1942=)
c.5796G>C (p.Leu1932=)
c.5394G>C (p.Leu1798=)
c.4632G>C (p.Leu1544=)
c.3528G>C (p.Leu1176=)
21g.46411788G>TCA513174409PCNTn.60G>T
c.5748G>T (p.Leu1916=)
c.*4958G>T (n.*4958G>T)
c.5715G>T (p.Leu1905=)
n.5984G>T
c.5361G>T (p.Leu1787=)
c.5826G>T (p.Leu1942=)
c.5796G>T (p.Leu1932=)
c.5394G>T (p.Leu1798=)
c.4632G>T (p.Leu1544=)
c.3528G>T (p.Leu1176=)
21g.46411789G>ACA410556239PCNTn.61G>A
c.5749G>A (p.Glu1917Lys)
c.*4959G>A (n.*4959G>A)
c.5716G>A (p.Glu1906Lys)
n.5985G>A
c.5362G>A (p.Glu1788Lys)
c.5827G>A (p.Glu1943Lys)
c.5797G>A (p.Glu1933Lys)
c.5395G>A (p.Glu1799Lys)
c.4633G>A (p.Glu1545Lys)
c.3529G>A (p.Glu1177Lys)
21g.46411789G>CCA410556235PCNTn.61G>C
c.5749G>C (p.Glu1917Gln)
c.*4959G>C (n.*4959G>C)
c.5716G>C (p.Glu1906Gln)
n.5985G>C
c.5362G>C (p.Glu1788Gln)
c.5827G>C (p.Glu1943Gln)
c.5797G>C (p.Glu1933Gln)
c.5395G>C (p.Glu1799Gln)
c.4633G>C (p.Glu1545Gln)
c.3529G>C (p.Glu1177Gln)
21g.46411789G>TCA410556232PCNTn.61G>T
c.5749G>T (p.Glu1917Ter)
c.*4959G>T (n.*4959G>T)
c.5716G>T (p.Glu1906Ter)
n.5985G>T
c.5362G>T (p.Glu1788Ter)
c.5827G>T (p.Glu1943Ter)
c.5797G>T (p.Glu1933Ter)
c.5395G>T (p.Glu1799Ter)
c.4633G>T (p.Glu1545Ter)
c.3529G>T (p.Glu1177Ter)
21g.46411790A>CCA410556245PCNTn.62A>C
c.5750A>C (p.Glu1917Ala)
c.*4960A>C (n.*4960A>C)
c.5717A>C (p.Glu1906Ala)
n.5986A>C
c.5363A>C (p.Glu1788Ala)
c.5828A>C (p.Glu1943Ala)
c.5798A>C (p.Glu1933Ala)
c.5396A>C (p.Glu1799Ala)
c.4634A>C (p.Glu1545Ala)
c.3530A>C (p.Glu1177Ala)
21g.46411790A>GCA410556250PCNTn.62A>G
c.5750A>G (p.Glu1917Gly)
c.*4960A>G (n.*4960A>G)
c.5717A>G (p.Glu1906Gly)
n.5986A>G
c.5363A>G (p.Glu1788Gly)
c.5828A>G (p.Glu1943Gly)
c.5798A>G (p.Glu1933Gly)
c.5396A>G (p.Glu1799Gly)
c.4634A>G (p.Glu1545Gly)
c.3530A>G (p.Glu1177Gly)
 gnomAD v4
21g.46411790A>TCA410556252PCNTn.62A>T
c.5750A>T (p.Glu1917Val)
c.*4960A>T (n.*4960A>T)
c.5717A>T (p.Glu1906Val)
n.5986A>T
c.5363A>T (p.Glu1788Val)
c.5828A>T (p.Glu1943Val)
c.5798A>T (p.Glu1933Val)
c.5396A>T (p.Glu1799Val)
c.4634A>T (p.Glu1545Val)
c.3530A>T (p.Glu1177Val)
21g.46411791G>ACA513174414PCNTn.63G>A
c.5751G>A (p.Glu1917=)
c.*4961G>A (n.*4961G>A)
c.5718G>A (p.Glu1906=)
n.5987G>A
c.5364G>A (p.Glu1788=)
c.5829G>A (p.Glu1943=)
c.5799G>A (p.Glu1933=)
c.5397G>A (p.Glu1799=)
c.4635G>A (p.Glu1545=)
c.3531G>A (p.Glu1177=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46411791G>CCA410556256PCNTn.63G>C
c.5751G>C (p.Glu1917Asp)
c.*4961G>C (n.*4961G>C)
c.5718G>C (p.Glu1906Asp)
n.5987G>C
c.5364G>C (p.Glu1788Asp)
c.5829G>C (p.Glu1943Asp)
c.5799G>C (p.Glu1933Asp)
c.5397G>C (p.Glu1799Asp)
c.4635G>C (p.Glu1545Asp)
c.3531G>C (p.Glu1177Asp)
21g.46411791G=CA2392665057PCNTn.63G=
c.5751G= (p.Glu1917=)
c.*4961G= (n.*4961G=)
c.5718G= (p.Glu1906=)
n.5987G=
c.5364G= (p.Glu1788=)
c.5829G= (p.Glu1943=)
c.5799G= (p.Glu1933=)
c.5397G= (p.Glu1799=)
c.4635G= (p.Glu1545=)
c.3531G= (p.Glu1177=)
21g.46411791G>TCA410556260PCNTn.63G>T
c.5751G>T (p.Glu1917Asp)
c.*4961G>T (n.*4961G>T)
c.5718G>T (p.Glu1906Asp)
n.5987G>T
c.5364G>T (p.Glu1788Asp)
c.5829G>T (p.Glu1943Asp)
c.5799G>T (p.Glu1933Asp)
c.5397G>T (p.Glu1799Asp)
c.4635G>T (p.Glu1545Asp)
c.3531G>T (p.Glu1177Asp)
 gnomAD v4
21g.46411792C>ACA410556266PCNTn.64C>A
c.5752C>A (p.Gln1918Lys)
c.*4962C>A (n.*4962C>A)
c.5719C>A (p.Gln1907Lys)
n.5988C>A
c.5365C>A (p.Gln1789Lys)
c.5830C>A (p.Gln1944Lys)
c.5800C>A (p.Gln1934Lys)
c.5398C>A (p.Gln1800Lys)
c.4636C>A (p.Gln1546Lys)
c.3532C>A (p.Gln1178Lys)
21g.46411792C=CA2392665058PCNTn.64C=
c.5752C= (p.Gln1918=)
c.*4962C= (n.*4962C=)
c.5719C= (p.Gln1907=)
n.5988C=
c.5365C= (p.Gln1789=)
c.5830C= (p.Gln1944=)
c.5800C= (p.Gln1934=)
c.5398C= (p.Gln1800=)
c.4636C= (p.Gln1546=)
c.3532C= (p.Gln1178=)
21g.46411792C>GCA410556270PCNTn.64C>G
c.5752C>G (p.Gln1918Glu)
c.*4962C>G (n.*4962C>G)
c.5719C>G (p.Gln1907Glu)
n.5988C>G
c.5365C>G (p.Gln1789Glu)
c.5830C>G (p.Gln1944Glu)
c.5800C>G (p.Gln1934Glu)
c.5398C>G (p.Gln1800Glu)
c.4636C>G (p.Gln1546Glu)
c.3532C>G (p.Gln1178Glu)
21g.46411792C>TCA410556276PCNTn.64C>T
c.5752C>T (p.Gln1918Ter)
c.*4962C>T (n.*4962C>T)
c.5719C>T (p.Gln1907Ter)
n.5988C>T
c.5365C>T (p.Gln1789Ter)
c.5830C>T (p.Gln1944Ter)
c.5800C>T (p.Gln1934Ter)
c.5398C>T (p.Gln1800Ter)
c.4636C>T (p.Gln1546Ter)
c.3532C>T (p.Gln1178Ter)
 ClinVar dbSNP
21g.46411793A=CA2392665060PCNTn.65A=
c.5753A= (p.Gln1918=)
c.*4963A= (n.*4963A=)
c.5720A= (p.Gln1907=)
n.5989A=
c.5366A= (p.Gln1789=)
c.5831A= (p.Gln1944=)
c.5801A= (p.Gln1934=)
c.5399A= (p.Gln1800=)
c.4637A= (p.Gln1546=)
c.3533A= (p.Gln1178=)
21g.46411793A>CCA410556280PCNTn.65A>C
c.5753A>C (p.Gln1918Pro)
c.*4963A>C (n.*4963A>C)
c.5720A>C (p.Gln1907Pro)
n.5989A>C
c.5366A>C (p.Gln1789Pro)
c.5831A>C (p.Gln1944Pro)
c.5801A>C (p.Gln1934Pro)
c.5399A>C (p.Gln1800Pro)
c.4637A>C (p.Gln1546Pro)
c.3533A>C (p.Gln1178Pro)
21g.46411793A>GCA410556285PCNTn.65A>G
c.5753A>G (p.Gln1918Arg)
c.*4963A>G (n.*4963A>G)
c.5720A>G (p.Gln1907Arg)
n.5989A>G
c.5366A>G (p.Gln1789Arg)
c.5831A>G (p.Gln1944Arg)
c.5801A>G (p.Gln1934Arg)
c.5399A>G (p.Gln1800Arg)
c.4637A>G (p.Gln1546Arg)
c.3533A>G (p.Gln1178Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.46411793A>TCA410556290PCNTn.65A>T
c.5753A>T (p.Gln1918Leu)
c.*4963A>T (n.*4963A>T)
c.5720A>T (p.Gln1907Leu)
n.5989A>T
c.5366A>T (p.Gln1789Leu)
c.5831A>T (p.Gln1944Leu)
c.5801A>T (p.Gln1934Leu)
c.5399A>T (p.Gln1800Leu)
c.4637A>T (p.Gln1546Leu)
c.3533A>T (p.Gln1178Leu)
21g.46411793_46411803delinsAGCAGCCCCTGCA2392665059PCNTn.65_75delinsAGCAGCCCCTG
c.5753_5763delinsAGCAGCCCCTG (p.Gln1918=)
c.*4963_*4973delinsAGCAGCCCCTG (n.*4963_*4973delinsAGCAGCCCCTG)
c.5720_5730delinsAGCAGCCCCTG (p.Gln1907=)
n.5989_5999delinsAGCAGCCCCTG
c.5366_5376delinsAGCAGCCCCTG (p.Gln1789=)
c.5831_5841delinsAGCAGCCCCTG (p.Gln1944=)
c.5801_5811delinsAGCAGCCCCTG (p.Gln1934=)
c.5399_5409delinsAGCAGCCCCTG (p.Gln1800=)
c.4637_4647delinsAGCAGCCCCTG (p.Gln1546=)
c.3533_3543delinsAGCAGCCCCTG (p.Gln1178=)
21g.46411794G>ACA513174424PCNTn.66G>A
c.5754G>A (p.Gln1918=)
c.*4964G>A (n.*4964G>A)
c.5721G>A (p.Gln1907=)
n.5990G>A
c.5367G>A (p.Gln1789=)
c.5832G>A (p.Gln1944=)
c.5802G>A (p.Gln1934=)
c.5400G>A (p.Gln1800=)
c.4638G>A (p.Gln1546=)
c.3534G>A (p.Gln1178=)
 dbSNP gnomAD v2
21g.46411794G>CCA410556314PCNTn.66G>C
c.5754G>C (p.Gln1918His)
c.*4964G>C (n.*4964G>C)
c.5721G>C (p.Gln1907His)
n.5990G>C
c.5367G>C (p.Gln1789His)
c.5832G>C (p.Gln1944His)
c.5802G>C (p.Gln1934His)
c.5400G>C (p.Gln1800His)
c.4638G>C (p.Gln1546His)
c.3534G>C (p.Gln1178His)
21g.46411794G=CA2392665061PCNTn.66G=
c.5754G= (p.Gln1918=)
c.*4964G= (n.*4964G=)
c.5721G= (p.Gln1907=)
n.5990G=
c.5367G= (p.Gln1789=)
c.5832G= (p.Gln1944=)
c.5802G= (p.Gln1934=)
c.5400G= (p.Gln1800=)
c.4638G= (p.Gln1546=)
c.3534G= (p.Gln1178=)
21g.46411794G>TCA410556310PCNTn.66G>T
c.5754G>T (p.Gln1918His)
c.*4964G>T (n.*4964G>T)
c.5721G>T (p.Gln1907His)
n.5990G>T
c.5367G>T (p.Gln1789His)
c.5832G>T (p.Gln1944His)
c.5802G>T (p.Gln1934His)
c.5400G>T (p.Gln1800His)
c.4638G>T (p.Gln1546His)
c.3534G>T (p.Gln1178His)
21g.46411800_46411809delCA251089PCNTn.72_81del
c.5760_5769del (p.Leu1921GlyfsTer29)
c.*4970_*4979del (n.*4970_*4979del)
c.5727_5736del (p.Leu1910GlyfsTer29)
n.5996_6005del
c.5373_5382del (p.Leu1792GlyfsTer29)
c.5838_5847del (p.Leu1947GlyfsTer29)
c.5808_5817del (p.Leu1937GlyfsTer29)
c.5406_5415del (p.Leu1803GlyfsTer29)
c.4644_4653del (p.Leu1549GlyfsTer29)
c.3540_3549del (p.Leu1181GlyfsTer29)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46411795C>ACA410556318PCNTn.67C>A
c.5755C>A (p.Gln1919Lys)
c.*4965C>A (n.*4965C>A)
c.5722C>A (p.Gln1908Lys)
n.5991C>A
c.5368C>A (p.Gln1790Lys)
c.5833C>A (p.Gln1945Lys)
c.5803C>A (p.Gln1935Lys)
c.5401C>A (p.Gln1801Lys)
c.4639C>A (p.Gln1547Lys)
c.3535C>A (p.Gln1179Lys)
 dbSNP gnomAD v2 gnomAD v4
21g.46411795C=CA2392665062PCNTn.67C=
c.5755C= (p.Gln1919=)
c.*4965C= (n.*4965C=)
c.5722C= (p.Gln1908=)
n.5991C=
c.5368C= (p.Gln1790=)
c.5833C= (p.Gln1945=)
c.5803C= (p.Gln1935=)
c.5401C= (p.Gln1801=)
c.4639C= (p.Gln1547=)
c.3535C= (p.Gln1179=)
21g.46411795C>GCA410556324PCNTn.67C>G
c.5755C>G (p.Gln1919Glu)
c.*4965C>G (n.*4965C>G)
c.5722C>G (p.Gln1908Glu)
n.5991C>G
c.5368C>G (p.Gln1790Glu)
c.5833C>G (p.Gln1945Glu)
c.5803C>G (p.Gln1935Glu)
c.5401C>G (p.Gln1801Glu)
c.4639C>G (p.Gln1547Glu)
c.3535C>G (p.Gln1179Glu)
21g.46411795C>TCA410556327PCNTn.67C>T
c.5755C>T (p.Gln1919Ter)
c.*4965C>T (n.*4965C>T)
c.5722C>T (p.Gln1908Ter)
n.5991C>T
c.5368C>T (p.Gln1790Ter)
c.5833C>T (p.Gln1945Ter)
c.5803C>T (p.Gln1935Ter)
c.5401C>T (p.Gln1801Ter)
c.4639C>T (p.Gln1547Ter)
c.3535C>T (p.Gln1179Ter)
 gnomAD v4
21g.46411796A=CA2392665063PCNTn.68A=
c.5756A= (p.Gln1919=)
c.*4966A= (n.*4966A=)
c.5723A= (p.Gln1908=)
n.5992A=
c.5369A= (p.Gln1790=)
c.5834A= (p.Gln1945=)
c.5804A= (p.Gln1935=)
c.5402A= (p.Gln1801=)
c.4640A= (p.Gln1547=)
c.3536A= (p.Gln1179=)
21g.46411796A>CCA410556332PCNTn.68A>C
c.5756A>C (p.Gln1919Pro)
c.*4966A>C (n.*4966A>C)
c.5723A>C (p.Gln1908Pro)
n.5992A>C
c.5369A>C (p.Gln1790Pro)
c.5834A>C (p.Gln1945Pro)
c.5804A>C (p.Gln1935Pro)
c.5402A>C (p.Gln1801Pro)
c.4640A>C (p.Gln1547Pro)
c.3536A>C (p.Gln1179Pro)
21g.46411796A>GCA321998148PCNTn.68A>G
c.5756A>G (p.Gln1919Arg)
c.*4966A>G (n.*4966A>G)
c.5723A>G (p.Gln1908Arg)
n.5992A>G
c.5369A>G (p.Gln1790Arg)
c.5834A>G (p.Gln1945Arg)
c.5804A>G (p.Gln1935Arg)
c.5402A>G (p.Gln1801Arg)
c.4640A>G (p.Gln1547Arg)
c.3536A>G (p.Gln1179Arg)
 dbSNP gnomAD v4
21g.46411796A>TCA410556341PCNTn.68A>T
c.5756A>T (p.Gln1919Leu)
c.*4966A>T (n.*4966A>T)
c.5723A>T (p.Gln1908Leu)
n.5992A>T
c.5369A>T (p.Gln1790Leu)
c.5834A>T (p.Gln1945Leu)
c.5804A>T (p.Gln1935Leu)
c.5402A>T (p.Gln1801Leu)
c.4640A>T (p.Gln1547Leu)
c.3536A>T (p.Gln1179Leu)
21g.46411797G>ACA10080074PCNTn.69G>A
c.5757G>A (p.Gln1919=)
c.*4967G>A (n.*4967G>A)
c.5724G>A (p.Gln1908=)
n.5993G>A
c.5370G>A (p.Gln1790=)
c.5835G>A (p.Gln1945=)
c.5805G>A (p.Gln1935=)
c.5403G>A (p.Gln1801=)
c.4641G>A (p.Gln1547=)
c.3537G>A (p.Gln1179=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411797G>CCA410556350PCNTn.69G>C
c.5757G>C (p.Gln1919His)
c.*4967G>C (n.*4967G>C)
c.5724G>C (p.Gln1908His)
n.5993G>C
c.5370G>C (p.Gln1790His)
c.5835G>C (p.Gln1945His)
c.5805G>C (p.Gln1935His)
c.5403G>C (p.Gln1801His)
c.4641G>C (p.Gln1547His)
c.3537G>C (p.Gln1179His)
21g.46411797G=CA2392665064PCNTn.69G=
c.5757G= (p.Gln1919=)
c.*4967G= (n.*4967G=)
c.5724G= (p.Gln1908=)
n.5993G=
c.5370G= (p.Gln1790=)
c.5835G= (p.Gln1945=)
c.5805G= (p.Gln1935=)
c.5403G= (p.Gln1801=)
c.4641G= (p.Gln1547=)
c.3537G= (p.Gln1179=)
21g.46411797G>TCA410556354PCNTn.69G>T
c.5757G>T (p.Gln1919His)
c.*4967G>T (n.*4967G>T)
c.5724G>T (p.Gln1908His)
n.5993G>T
c.5370G>T (p.Gln1790His)
c.5835G>T (p.Gln1945His)
c.5805G>T (p.Gln1935His)
c.5403G>T (p.Gln1801His)
c.4641G>T (p.Gln1547His)
c.3537G>T (p.Gln1179His)
21g.46411798C>ACA410556361PCNTn.70C>A
c.5758C>A (p.Pro1920Thr)
c.*4968C>A (n.*4968C>A)
c.5725C>A (p.Pro1909Thr)
n.5994C>A
c.5371C>A (p.Pro1791Thr)
c.5836C>A (p.Pro1946Thr)
c.5806C>A (p.Pro1936Thr)
c.5404C>A (p.Pro1802Thr)
c.4642C>A (p.Pro1548Thr)
c.3538C>A (p.Pro1180Thr)
 gnomAD v4
21g.46411798C=CA2392665065PCNTn.70C=
c.5758C= (p.Pro1920=)
c.*4968C= (n.*4968C=)
c.5725C= (p.Pro1909=)
n.5994C=
c.5371C= (p.Pro1791=)
c.5836C= (p.Pro1946=)
c.5806C= (p.Pro1936=)
c.5404C= (p.Pro1802=)
c.4642C= (p.Pro1548=)
c.3538C= (p.Pro1180=)
21g.46411798C>GCA410556368PCNTn.70C>G
c.5758C>G (p.Pro1920Ala)
c.*4968C>G (n.*4968C>G)
c.5725C>G (p.Pro1909Ala)
n.5994C>G
c.5371C>G (p.Pro1791Ala)
c.5836C>G (p.Pro1946Ala)
c.5806C>G (p.Pro1936Ala)
c.5404C>G (p.Pro1802Ala)
c.4642C>G (p.Pro1548Ala)
c.3538C>G (p.Pro1180Ala)
21g.46411798C>TCA410556370PCNTn.70C>T
c.5758C>T (p.Pro1920Ser)
c.*4968C>T (n.*4968C>T)
c.5725C>T (p.Pro1909Ser)
n.5994C>T
c.5371C>T (p.Pro1791Ser)
c.5836C>T (p.Pro1946Ser)
c.5806C>T (p.Pro1936Ser)
c.5404C>T (p.Pro1802Ser)
c.4642C>T (p.Pro1548Ser)
c.3538C>T (p.Pro1180Ser)
 dbSNP gnomAD v3 gnomAD v4
21g.46411801delCA2655023957PCNTn.73del
c.5761del (p.Leu1921TrpfsTer?)
c.*4971del (n.*4971del)
c.5728del (p.Leu1910TrpfsTer?)
n.5997del
c.5374del (p.Leu1792TrpfsTer?)
c.5839del (p.Leu1947TrpfsTer?)
c.5809del (p.Leu1937TrpfsTer?)
c.5407del (p.Leu1803TrpfsTer?)
c.4645del (p.Leu1549TrpfsTer?)
c.3541del (p.Leu1181TrpfsTer?)
 gnomAD v4
21g.46411799C>ACA410556372PCNTn.71C>A
c.5759C>A (p.Pro1920His)
c.*4969C>A (n.*4969C>A)
c.5726C>A (p.Pro1909His)
n.5995C>A
c.5372C>A (p.Pro1791His)
c.5837C>A (p.Pro1946His)
c.5807C>A (p.Pro1936His)
c.5405C>A (p.Pro1802His)
c.4643C>A (p.Pro1548His)
c.3539C>A (p.Pro1180His)
 gnomAD v4
21g.46411799C=CA2392665066PCNTn.71C=
c.5759C= (p.Pro1920=)
c.*4969C= (n.*4969C=)
c.5726C= (p.Pro1909=)
n.5995C=
c.5372C= (p.Pro1791=)
c.5837C= (p.Pro1946=)
c.5807C= (p.Pro1936=)
c.5405C= (p.Pro1802=)
c.4643C= (p.Pro1548=)
c.3539C= (p.Pro1180=)
21g.46411799C>GCA410556376PCNTn.71C>G
c.5759C>G (p.Pro1920Arg)
c.*4969C>G (n.*4969C>G)
c.5726C>G (p.Pro1909Arg)
n.5995C>G
c.5372C>G (p.Pro1791Arg)
c.5837C>G (p.Pro1946Arg)
c.5807C>G (p.Pro1936Arg)
c.5405C>G (p.Pro1802Arg)
c.4643C>G (p.Pro1548Arg)
c.3539C>G (p.Pro1180Arg)
21g.46411799C>TCA10080075PCNTn.71C>T
c.5759C>T (p.Pro1920Leu)
c.*4969C>T (n.*4969C>T)
c.5726C>T (p.Pro1909Leu)
n.5995C>T
c.5372C>T (p.Pro1791Leu)
c.5837C>T (p.Pro1946Leu)
c.5807C>T (p.Pro1936Leu)
c.5405C>T (p.Pro1802Leu)
c.4643C>T (p.Pro1548Leu)
c.3539C>T (p.Pro1180Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411800C>ACA513174430PCNTn.72C>A
c.5760C>A (p.Pro1920=)
c.*4970C>A (n.*4970C>A)
c.5727C>A (p.Pro1909=)
n.5996C>A
c.5373C>A (p.Pro1791=)
c.5838C>A (p.Pro1946=)
c.5808C>A (p.Pro1936=)
c.5406C>A (p.Pro1802=)
c.4644C>A (p.Pro1548=)
c.3540C>A (p.Pro1180=)
 gnomAD v4
21g.46411800C>GCA513174431PCNTn.72C>G
c.5760C>G (p.Pro1920=)
c.*4970C>G (n.*4970C>G)
c.5727C>G (p.Pro1909=)
n.5996C>G
c.5373C>G (p.Pro1791=)
c.5838C>G (p.Pro1946=)
c.5808C>G (p.Pro1936=)
c.5406C>G (p.Pro1802=)
c.4644C>G (p.Pro1548=)
c.3540C>G (p.Pro1180=)
21g.46411800C>TCA513174432PCNTn.72C>T
c.5760C>T (p.Pro1920=)
c.*4970C>T (n.*4970C>T)
c.5727C>T (p.Pro1909=)
n.5996C>T
c.5373C>T (p.Pro1791=)
c.5838C>T (p.Pro1946=)
c.5808C>T (p.Pro1936=)
c.5406C>T (p.Pro1802=)
c.4644C>T (p.Pro1548=)
c.3540C>T (p.Pro1180=)
 gnomAD v4
21g.46411801C>ACA410556383PCNTn.73C>A
c.5761C>A (p.Leu1921Met)
c.*4971C>A (n.*4971C>A)
c.5728C>A (p.Leu1910Met)
n.5997C>A
c.5374C>A (p.Leu1792Met)
c.5839C>A (p.Leu1947Met)
c.5809C>A (p.Leu1937Met)
c.5407C>A (p.Leu1803Met)
c.4645C>A (p.Leu1549Met)
c.3541C>A (p.Leu1181Met)
21g.46411801C>GCA410556382PCNTn.73C>G
c.5761C>G (p.Leu1921Val)
c.*4971C>G (n.*4971C>G)
c.5728C>G (p.Leu1910Val)
n.5997C>G
c.5374C>G (p.Leu1792Val)
c.5839C>G (p.Leu1947Val)
c.5809C>G (p.Leu1937Val)
c.5407C>G (p.Leu1803Val)
c.4645C>G (p.Leu1549Val)
c.3541C>G (p.Leu1181Val)
21g.46411801C>TCA513174433PCNTn.73C>T
c.5761C>T (p.Leu1921=)
c.*4971C>T (n.*4971C>T)
c.5728C>T (p.Leu1910=)
n.5997C>T
c.5374C>T (p.Leu1792=)
c.5839C>T (p.Leu1947=)
c.5809C>T (p.Leu1937=)
c.5407C>T (p.Leu1803=)
c.4645C>T (p.Leu1549=)
c.3541C>T (p.Leu1181=)
 gnomAD v4 COSMIC
21g.46411802T>ACA410556386PCNTn.74T>A
c.5762T>A (p.Leu1921Gln)
c.*4972T>A (n.*4972T>A)
c.5729T>A (p.Leu1910Gln)
n.5998T>A
c.5375T>A (p.Leu1792Gln)
c.5840T>A (p.Leu1947Gln)
c.5810T>A (p.Leu1937Gln)
c.5408T>A (p.Leu1803Gln)
c.4646T>A (p.Leu1549Gln)
c.3542T>A (p.Leu1181Gln)
21g.46411802T>CCA410556399PCNTn.74T>C
c.5762T>C (p.Leu1921Pro)
c.*4972T>C (n.*4972T>C)
c.5729T>C (p.Leu1910Pro)
n.5998T>C
c.5375T>C (p.Leu1792Pro)
c.5840T>C (p.Leu1947Pro)
c.5810T>C (p.Leu1937Pro)
c.5408T>C (p.Leu1803Pro)
c.4646T>C (p.Leu1549Pro)
c.3542T>C (p.Leu1181Pro)
 gnomAD v4
21g.46411802T>GCA410556405PCNTn.74T>G
c.5762T>G (p.Leu1921Arg)
c.*4972T>G (n.*4972T>G)
c.5729T>G (p.Leu1910Arg)
n.5998T>G
c.5375T>G (p.Leu1792Arg)
c.5840T>G (p.Leu1947Arg)
c.5810T>G (p.Leu1937Arg)
c.5408T>G (p.Leu1803Arg)
c.4646T>G (p.Leu1549Arg)
c.3542T>G (p.Leu1181Arg)
 gnomAD v4
21g.46411803G>ACA513173964PCNTn.75G>A
c.5763G>A (p.Leu1921=)
c.*4973G>A (n.*4973G>A)
c.5730G>A (p.Leu1910=)
n.5999G>A
c.5376G>A (p.Leu1792=)
c.5841G>A (p.Leu1947=)
c.5811G>A (p.Leu1937=)
c.5409G>A (p.Leu1803=)
c.4647G>A (p.Leu1549=)
c.3543G>A (p.Leu1181=)
21g.46411803G>CCA513173963PCNTn.75G>C
c.5763G>C (p.Leu1921=)
c.*4973G>C (n.*4973G>C)
c.5730G>C (p.Leu1910=)
n.5999G>C
c.5376G>C (p.Leu1792=)
c.5841G>C (p.Leu1947=)
c.5811G>C (p.Leu1937=)
c.5409G>C (p.Leu1803=)
c.4647G>C (p.Leu1549=)
c.3543G>C (p.Leu1181=)
21g.46411803G>TCA513173962PCNTn.75G>T
c.5763G>T (p.Leu1921=)
c.*4973G>T (n.*4973G>T)
c.5730G>T (p.Leu1910=)
n.5999G>T
c.5376G>T (p.Leu1792=)
c.5841G>T (p.Leu1947=)
c.5811G>T (p.Leu1937=)
c.5409G>T (p.Leu1803=)
c.4647G>T (p.Leu1549=)
c.3543G>T (p.Leu1181=)
 gnomAD v4
21g.46411804G>ACA410556409PCNTn.76G>A
c.5764G>A (p.Ala1922Thr)
c.*4974G>A (n.*4974G>A)
c.5731G>A (p.Ala1911Thr)
n.6000G>A
c.5377G>A (p.Ala1793Thr)
c.5842G>A (p.Ala1948Thr)
c.5812G>A (p.Ala1938Thr)
c.5410G>A (p.Ala1804Thr)
c.4648G>A (p.Ala1550Thr)
c.3544G>A (p.Ala1182Thr)
21g.46411804G>CCA410556414PCNTn.76G>C
c.5764G>C (p.Ala1922Pro)
c.*4974G>C (n.*4974G>C)
c.5731G>C (p.Ala1911Pro)
n.6000G>C
c.5377G>C (p.Ala1793Pro)
c.5842G>C (p.Ala1948Pro)
c.5812G>C (p.Ala1938Pro)
c.5410G>C (p.Ala1804Pro)
c.4648G>C (p.Ala1550Pro)
c.3544G>C (p.Ala1182Pro)
21g.46411804G=CA2392665067PCNTn.76G=
c.5764G= (p.Ala1922=)
c.*4974G= (n.*4974G=)
c.5731G= (p.Ala1911=)
n.6000G=
c.5377G= (p.Ala1793=)
c.5842G= (p.Ala1948=)
c.5812G= (p.Ala1938=)
c.5410G= (p.Ala1804=)
c.4648G= (p.Ala1550=)
c.3544G= (p.Ala1182=)
21g.46411804G>TCA410556416PCNTn.76G>T
c.5764G>T (p.Ala1922Ser)
c.*4974G>T (n.*4974G>T)
c.5731G>T (p.Ala1911Ser)
n.6000G>T
c.5377G>T (p.Ala1793Ser)
c.5842G>T (p.Ala1948Ser)
c.5812G>T (p.Ala1938Ser)
c.5410G>T (p.Ala1804Ser)
c.4648G>T (p.Ala1550Ser)
c.3544G>T (p.Ala1182Ser)
 dbSNP
21g.46411805C>ACA410556421PCNTn.77C>A
c.5765C>A (p.Ala1922Glu)
c.*4975C>A (n.*4975C>A)
c.5732C>A (p.Ala1911Glu)
n.6001C>A
c.5378C>A (p.Ala1793Glu)
c.5843C>A (p.Ala1948Glu)
c.5813C>A (p.Ala1938Glu)
c.5411C>A (p.Ala1804Glu)
c.4649C>A (p.Ala1550Glu)
c.3545C>A (p.Ala1182Glu)
 gnomAD v4
21g.46411805C=CA2392665068PCNTn.77C=
c.5765C= (p.Ala1922=)
c.*4975C= (n.*4975C=)
c.5732C= (p.Ala1911=)
n.6001C=
c.5378C= (p.Ala1793=)
c.5843C= (p.Ala1948=)
c.5813C= (p.Ala1938=)
c.5411C= (p.Ala1804=)
c.4649C= (p.Ala1550=)
c.3545C= (p.Ala1182=)
21g.46411805C>GCA410556424PCNTn.77C>G
c.5765C>G (p.Ala1922Gly)
c.*4975C>G (n.*4975C>G)
c.5732C>G (p.Ala1911Gly)
n.6001C>G
c.5378C>G (p.Ala1793Gly)
c.5843C>G (p.Ala1948Gly)
c.5813C>G (p.Ala1938Gly)
c.5411C>G (p.Ala1804Gly)
c.4649C>G (p.Ala1550Gly)
c.3545C>G (p.Ala1182Gly)
21g.46411805C>TCA410556428PCNTn.77C>T
c.5765C>T (p.Ala1922Val)
c.*4975C>T (n.*4975C>T)
c.5732C>T (p.Ala1911Val)
n.6001C>T
c.5378C>T (p.Ala1793Val)
c.5843C>T (p.Ala1948Val)
c.5813C>T (p.Ala1938Val)
c.5411C>T (p.Ala1804Val)
c.4649C>T (p.Ala1550Val)
c.3545C>T (p.Ala1182Val)
 dbSNP
21g.46411806A>CCA513173969PCNTn.78A>C
c.5766A>C (p.Ala1922=)
c.*4976A>C (n.*4976A>C)
c.5733A>C (p.Ala1911=)
n.6002A>C
c.5379A>C (p.Ala1793=)
c.5844A>C (p.Ala1948=)
c.5814A>C (p.Ala1938=)
c.5412A>C (p.Ala1804=)
c.4650A>C (p.Ala1550=)
c.3546A>C (p.Ala1182=)
21g.46411806A>GCA513173970PCNTn.78A>G
c.5766A>G (p.Ala1922=)
c.*4976A>G (n.*4976A>G)
c.5733A>G (p.Ala1911=)
n.6002A>G
c.5379A>G (p.Ala1793=)
c.5844A>G (p.Ala1948=)
c.5814A>G (p.Ala1938=)
c.5412A>G (p.Ala1804=)
c.4650A>G (p.Ala1550=)
c.3546A>G (p.Ala1182=)
21g.46411806A>TCA513173971PCNTn.78A>T
c.5766A>T (p.Ala1922=)
c.*4976A>T (n.*4976A>T)
c.5733A>T (p.Ala1911=)
n.6002A>T
c.5379A>T (p.Ala1793=)
c.5844A>T (p.Ala1948=)
c.5814A>T (p.Ala1938=)
c.5412A>T (p.Ala1804=)
c.4650A>T (p.Ala1550=)
c.3546A>T (p.Ala1182=)
21g.46411807G>ACA410556431PCNTn.79G>A
c.5767G>A (p.Ala1923Thr)
c.*4977G>A (n.*4977G>A)
c.5734G>A (p.Ala1912Thr)
n.6003G>A
c.5380G>A (p.Ala1794Thr)
c.5845G>A (p.Ala1949Thr)
c.5815G>A (p.Ala1939Thr)
c.5413G>A (p.Ala1805Thr)
c.4651G>A (p.Ala1551Thr)
c.3547G>A (p.Ala1183Thr)
21g.46411807G>CCA410556432PCNTn.79G>C
c.5767G>C (p.Ala1923Pro)
c.*4977G>C (n.*4977G>C)
c.5734G>C (p.Ala1912Pro)
n.6003G>C
c.5380G>C (p.Ala1794Pro)
c.5845G>C (p.Ala1949Pro)
c.5815G>C (p.Ala1939Pro)
c.5413G>C (p.Ala1805Pro)
c.4651G>C (p.Ala1551Pro)
c.3547G>C (p.Ala1183Pro)
21g.46411807G>TCA410556433PCNTn.79G>T
c.5767G>T (p.Ala1923Ser)
c.*4977G>T (n.*4977G>T)
c.5734G>T (p.Ala1912Ser)
n.6003G>T
c.5380G>T (p.Ala1794Ser)
c.5845G>T (p.Ala1949Ser)
c.5815G>T (p.Ala1939Ser)
c.5413G>T (p.Ala1805Ser)
c.4651G>T (p.Ala1551Ser)
c.3547G>T (p.Ala1183Ser)
 gnomAD v4
21g.46411808C>ACA410556437PCNTn.80C>A
c.5768C>A (p.Ala1923Asp)
c.*4978C>A (n.*4978C>A)
c.5735C>A (p.Ala1912Asp)
n.6004C>A
c.5381C>A (p.Ala1794Asp)
c.5846C>A (p.Ala1949Asp)
c.5816C>A (p.Ala1939Asp)
c.5414C>A (p.Ala1805Asp)
c.4652C>A (p.Ala1551Asp)
c.3548C>A (p.Ala1183Asp)
 gnomAD v4
21g.46411808C>GCA410556445PCNTn.80C>G
c.5768C>G (p.Ala1923Gly)
c.*4978C>G (n.*4978C>G)
c.5735C>G (p.Ala1912Gly)
n.6004C>G
c.5381C>G (p.Ala1794Gly)
c.5846C>G (p.Ala1949Gly)
c.5816C>G (p.Ala1939Gly)
c.5414C>G (p.Ala1805Gly)
c.4652C>G (p.Ala1551Gly)
c.3548C>G (p.Ala1183Gly)
21g.46411808C>TCA410556442PCNTn.80C>T
c.5768C>T (p.Ala1923Val)
c.*4978C>T (n.*4978C>T)
c.5735C>T (p.Ala1912Val)
n.6004C>T
c.5381C>T (p.Ala1794Val)
c.5846C>T (p.Ala1949Val)
c.5816C>T (p.Ala1939Val)
c.5414C>T (p.Ala1805Val)
c.4652C>T (p.Ala1551Val)
c.3548C>T (p.Ala1183Val)
 gnomAD v4
21g.46411809C>ACA513173975PCNTn.81C>A
c.5769C>A (p.Ala1923=)
c.*4979C>A (n.*4979C>A)
c.5736C>A (p.Ala1912=)
n.6005C>A
c.5382C>A (p.Ala1794=)
c.5847C>A (p.Ala1949=)
c.5817C>A (p.Ala1939=)
c.5415C>A (p.Ala1805=)
c.4653C>A (p.Ala1551=)
c.3549C>A (p.Ala1183=)
 gnomAD v4
21g.46411809C=CA2392665069PCNTn.81C=
c.5769C= (p.Ala1923=)
c.*4979C= (n.*4979C=)
c.5736C= (p.Ala1912=)
n.6005C=
c.5382C= (p.Ala1794=)
c.5847C= (p.Ala1949=)
c.5817C= (p.Ala1939=)
c.5415C= (p.Ala1805=)
c.4653C= (p.Ala1551=)
c.3549C= (p.Ala1183=)
21g.46411809C>GCA513173977PCNTn.81C>G
c.5769C>G (p.Ala1923=)
c.*4979C>G (n.*4979C>G)
c.5736C>G (p.Ala1912=)
n.6005C>G
c.5382C>G (p.Ala1794=)
c.5847C>G (p.Ala1949=)
c.5817C>G (p.Ala1939=)
c.5415C>G (p.Ala1805=)
c.4653C>G (p.Ala1551=)
c.3549C>G (p.Ala1183=)
21g.46411809C>TCA10080076PCNTn.81C>T
c.5769C>T (p.Ala1923=)
c.*4979C>T (n.*4979C>T)
c.5736C>T (p.Ala1912=)
n.6005C>T
c.5382C>T (p.Ala1794=)
c.5847C>T (p.Ala1949=)
c.5817C>T (p.Ala1939=)
c.5415C>T (p.Ala1805=)
c.4653C>T (p.Ala1551=)
c.3549C>T (p.Ala1183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.46411810G>ACA10080077PCNTn.82G>A
c.5770G>A (p.Gly1924Arg)
c.*4980G>A (n.*4980G>A)
c.5737G>A (p.Gly1913Arg)
n.6006G>A
c.5383G>A (p.Gly1795Arg)
c.5848G>A (p.Gly1950Arg)
c.5818G>A (p.Gly1940Arg)
c.5416G>A (p.Gly1806Arg)
c.4654G>A (p.Gly1552Arg)
c.3550G>A (p.Gly1184Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411810G>CCA410556453PCNTn.82G>C
c.5770G>C (p.Gly1924Arg)
c.*4980G>C (n.*4980G>C)
c.5737G>C (p.Gly1913Arg)
n.6006G>C
c.5383G>C (p.Gly1795Arg)
c.5848G>C (p.Gly1950Arg)
c.5818G>C (p.Gly1940Arg)
c.5416G>C (p.Gly1806Arg)
c.4654G>C (p.Gly1552Arg)
c.3550G>C (p.Gly1184Arg)
21g.46411810G=CA2392665070PCNTn.82G=
c.5770G= (p.Gly1924=)
c.*4980G= (n.*4980G=)
c.5737G= (p.Gly1913=)
n.6006G=
c.5383G= (p.Gly1795=)
c.5848G= (p.Gly1950=)
c.5818G= (p.Gly1940=)
c.5416G= (p.Gly1806=)
c.4654G= (p.Gly1552=)
c.3550G= (p.Gly1184=)
21g.46411810G>TCA410556456PCNTn.82G>T
c.5770G>T (p.Gly1924Trp)
c.*4980G>T (n.*4980G>T)
c.5737G>T (p.Gly1913Trp)
n.6006G>T
c.5383G>T (p.Gly1795Trp)
c.5848G>T (p.Gly1950Trp)
c.5818G>T (p.Gly1940Trp)
c.5416G>T (p.Gly1806Trp)
c.4654G>T (p.Gly1552Trp)
c.3550G>T (p.Gly1184Trp)
 gnomAD v4
21g.46411813delCA638499669PCNTn.85del
c.5773del (p.Ala1925ArgfsTer28)
c.*4983del (n.*4983del)
c.5740del (p.Ala1914ArgfsTer28)
n.6009del
c.5386del (p.Ala1796ArgfsTer28)
c.5851del (p.Ala1951ArgfsTer28)
c.5821del (p.Ala1941ArgfsTer28)
c.5419del (p.Ala1807ArgfsTer28)
c.4657del (p.Ala1553ArgfsTer28)
c.3553del (p.Ala1185ArgfsTer28)
 gnomAD v2 gnomAD v4
21g.46411811G>ACA410556462PCNTn.83G>A
c.5771G>A (p.Gly1924Glu)
c.*4981G>A (n.*4981G>A)
c.5738G>A (p.Gly1913Glu)
n.6007G>A
c.5384G>A (p.Gly1795Glu)
c.5849G>A (p.Gly1950Glu)
c.5819G>A (p.Gly1940Glu)
c.5417G>A (p.Gly1806Glu)
c.4655G>A (p.Gly1552Glu)
c.3551G>A (p.Gly1184Glu)
 dbSNP gnomAD v3 gnomAD v4
21g.46411811G>CCA410556465PCNTn.83G>C
c.5771G>C (p.Gly1924Ala)
c.*4981G>C (n.*4981G>C)
c.5738G>C (p.Gly1913Ala)
n.6007G>C
c.5384G>C (p.Gly1795Ala)
c.5849G>C (p.Gly1950Ala)
c.5819G>C (p.Gly1940Ala)
c.5417G>C (p.Gly1806Ala)
c.4655G>C (p.Gly1552Ala)
c.3551G>C (p.Gly1184Ala)
 gnomAD v4
21g.46411811G=CA2392665071PCNTn.83G=
c.5771G= (p.Gly1924=)
c.*4981G= (n.*4981G=)
c.5738G= (p.Gly1913=)
n.6007G=
c.5384G= (p.Gly1795=)
c.5849G= (p.Gly1950=)
c.5819G= (p.Gly1940=)
c.5417G= (p.Gly1806=)
c.4655G= (p.Gly1552=)
c.3551G= (p.Gly1184=)
21g.46411811G>TCA410556470PCNTn.83G>T
c.5771G>T (p.Gly1924Val)
c.*4981G>T (n.*4981G>T)
c.5738G>T (p.Gly1913Val)
n.6007G>T
c.5384G>T (p.Gly1795Val)
c.5849G>T (p.Gly1950Val)
c.5819G>T (p.Gly1940Val)
c.5417G>T (p.Gly1806Val)
c.4655G>T (p.Gly1552Val)
c.3551G>T (p.Gly1184Val)
 dbSNP gnomAD v2 gnomAD v4
21g.46411812G>ACA513173992PCNTn.84G>A
c.5772G>A (p.Gly1924=)
c.*4982G>A (n.*4982G>A)
c.5739G>A (p.Gly1913=)
n.6008G>A
c.5385G>A (p.Gly1795=)
c.5850G>A (p.Gly1950=)
c.5820G>A (p.Gly1940=)
c.5418G>A (p.Gly1806=)
c.4656G>A (p.Gly1552=)
c.3552G>A (p.Gly1184=)
 gnomAD v4
21g.46411812G>CCA513173985PCNTn.84G>C
c.5772G>C (p.Gly1924=)
c.*4982G>C (n.*4982G>C)
c.5739G>C (p.Gly1913=)
n.6008G>C
c.5385G>C (p.Gly1795=)
c.5850G>C (p.Gly1950=)
c.5820G>C (p.Gly1940=)
c.5418G>C (p.Gly1806=)
c.4656G>C (p.Gly1552=)
c.3552G>C (p.Gly1184=)
21g.46411812G>TCA513173987PCNTn.84G>T
c.5772G>T (p.Gly1924=)
c.*4982G>T (n.*4982G>T)
c.5739G>T (p.Gly1913=)
n.6008G>T
c.5385G>T (p.Gly1795=)
c.5850G>T (p.Gly1950=)
c.5820G>T (p.Gly1940=)
c.5418G>T (p.Gly1806=)
c.4656G>T (p.Gly1552=)
c.3552G>T (p.Gly1184=)
 gnomAD v4
21g.46411813G>ACA410556473PCNTn.85G>A
c.5773G>A (p.Ala1925Thr)
c.*4983G>A (n.*4983G>A)
c.5740G>A (p.Ala1914Thr)
n.6009G>A
c.5386G>A (p.Ala1796Thr)
c.5851G>A (p.Ala1951Thr)
c.5821G>A (p.Ala1941Thr)
c.5419G>A (p.Ala1807Thr)
c.4657G>A (p.Ala1553Thr)
c.3553G>A (p.Ala1185Thr)
 dbSNP gnomAD v4
21g.46411813G>CCA410556476PCNTn.85G>C
c.5773G>C (p.Ala1925Pro)
c.*4983G>C (n.*4983G>C)
c.5740G>C (p.Ala1914Pro)
n.6009G>C
c.5386G>C (p.Ala1796Pro)
c.5851G>C (p.Ala1951Pro)
c.5821G>C (p.Ala1941Pro)
c.5419G>C (p.Ala1807Pro)
c.4657G>C (p.Ala1553Pro)
c.3553G>C (p.Ala1185Pro)
21g.46411813G=CA2392665072PCNTn.85G=
c.5773G= (p.Ala1925=)
c.*4983G= (n.*4983G=)
c.5740G= (p.Ala1914=)
n.6009G=
c.5386G= (p.Ala1796=)
c.5851G= (p.Ala1951=)
c.5821G= (p.Ala1941=)
c.5419G= (p.Ala1807=)
c.4657G= (p.Ala1553=)
c.3553G= (p.Ala1185=)
21g.46411813G>TCA410556478PCNTn.85G>T
c.5773G>T (p.Ala1925Ser)
c.*4983G>T (n.*4983G>T)
c.5740G>T (p.Ala1914Ser)
n.6009G>T
c.5386G>T (p.Ala1796Ser)
c.5851G>T (p.Ala1951Ser)
c.5821G>T (p.Ala1941Ser)
c.5419G>T (p.Ala1807Ser)
c.4657G>T (p.Ala1553Ser)
c.3553G>T (p.Ala1185Ser)
21g.46411815_46411831delCA2655023981PCNTn.87_103del
c.5775_5791del (p.Ala1926ValfsTer?)
c.*4985_*5001del (n.*4985_*5001del)
c.5742_5758del (p.Ala1915ValfsTer?)
n.6011_6027del
c.5388_5404del (p.Ala1797ValfsTer?)
c.5853_5869del (p.Ala1952ValfsTer?)
c.5823_5839del (p.Ala1942ValfsTer?)
c.5421_5437del (p.Ala1808ValfsTer?)
c.4659_4675del (p.Ala1554ValfsTer?)
c.3555_3571del (p.Ala1186ValfsTer?)
 gnomAD v4
21g.46411814delCA2818112078PCNTn.86del
c.5774del (p.Ala1925GlyfsTer28)
c.*4984del (n.*4984del)
c.5741del (p.Ala1914GlyfsTer28)
n.6010del
c.5387del (p.Ala1796GlyfsTer28)
c.5852del (p.Ala1951GlyfsTer28)
c.5822del (p.Ala1941GlyfsTer28)
c.5420del (p.Ala1807GlyfsTer28)
c.4658del (p.Ala1553GlyfsTer28)
c.3554del (p.Ala1185GlyfsTer28)
21g.46411814C>ACA410556481PCNTn.86C>A
c.5774C>A (p.Ala1925Glu)
c.*4984C>A (n.*4984C>A)
c.5741C>A (p.Ala1914Glu)
n.6010C>A
c.5387C>A (p.Ala1796Glu)
c.5852C>A (p.Ala1951Glu)
c.5822C>A (p.Ala1941Glu)
c.5420C>A (p.Ala1807Glu)
c.4658C>A (p.Ala1553Glu)
c.3554C>A (p.Ala1185Glu)
 gnomAD v4
21g.46411814C=CA2392665073PCNTn.86C=
c.5774C= (p.Ala1925=)
c.*4984C= (n.*4984C=)
c.5741C= (p.Ala1914=)
n.6010C=
c.5387C= (p.Ala1796=)
c.5852C= (p.Ala1951=)
c.5822C= (p.Ala1941=)
c.5420C= (p.Ala1807=)
c.4658C= (p.Ala1553=)
c.3554C= (p.Ala1185=)
21g.46411814C>GCA410556484PCNTn.86C>G
c.5774C>G (p.Ala1925Gly)
c.*4984C>G (n.*4984C>G)
c.5741C>G (p.Ala1914Gly)
n.6010C>G
c.5387C>G (p.Ala1796Gly)
c.5852C>G (p.Ala1951Gly)
c.5822C>G (p.Ala1941Gly)
c.5420C>G (p.Ala1807Gly)
c.4658C>G (p.Ala1553Gly)
c.3554C>G (p.Ala1185Gly)
21g.46411814C>TCA10080078PCNTn.86C>T
c.5774C>T (p.Ala1925Val)
c.*4984C>T (n.*4984C>T)
c.5741C>T (p.Ala1914Val)
n.6010C>T
c.5387C>T (p.Ala1796Val)
c.5852C>T (p.Ala1951Val)
c.5822C>T (p.Ala1941Val)
c.5420C>T (p.Ala1807Val)
c.4658C>T (p.Ala1553Val)
c.3554C>T (p.Ala1185Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.46411815G>ACA173032PCNTn.87G>A
c.5775G>A (p.Ala1925=)
c.*4985G>A (n.*4985G>A)
c.5742G>A (p.Ala1914=)
n.6011G>A
c.5388G>A (p.Ala1796=)
c.5853G>A (p.Ala1951=)
c.5823G>A (p.Ala1941=)
c.5421G>A (p.Ala1807=)
c.4659G>A (p.Ala1553=)
c.3555G>A (p.Ala1185=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411815G>CCA513173995PCNTn.87G>C
c.5775G>C (p.Ala1925=)
c.*4985G>C (n.*4985G>C)
c.5742G>C (p.Ala1914=)
n.6011G>C
c.5388G>C (p.Ala1796=)
c.5853G>C (p.Ala1951=)
c.5823G>C (p.Ala1941=)
c.5421G>C (p.Ala1807=)
c.4659G>C (p.Ala1553=)
c.3555G>C (p.Ala1185=)
21g.46411815G=CA2392665074PCNTn.87G=
c.5775G= (p.Ala1925=)
c.*4985G= (n.*4985G=)
c.5742G= (p.Ala1914=)
n.6011G=
c.5388G= (p.Ala1796=)
c.5853G= (p.Ala1951=)
c.5823G= (p.Ala1941=)
c.5421G= (p.Ala1807=)
c.4659G= (p.Ala1553=)
c.3555G= (p.Ala1185=)
21g.46411815G>TCA513173996PCNTn.87G>T
c.5775G>T (p.Ala1925=)
c.*4985G>T (n.*4985G>T)
c.5742G>T (p.Ala1914=)
n.6011G>T
c.5388G>T (p.Ala1796=)
c.5853G>T (p.Ala1951=)
c.5823G>T (p.Ala1941=)
c.5421G>T (p.Ala1807=)
c.4659G>T (p.Ala1553=)
c.3555G>T (p.Ala1185=)
21g.46411816G>ACA10080079PCNTn.88G>A
c.5776G>A (p.Ala1926Thr)
c.*4986G>A (n.*4986G>A)
c.5743G>A (p.Ala1915Thr)
n.6012G>A
c.5389G>A (p.Ala1797Thr)
c.5854G>A (p.Ala1952Thr)
c.5824G>A (p.Ala1942Thr)
c.5422G>A (p.Ala1808Thr)
c.4660G>A (p.Ala1554Thr)
c.3556G>A (p.Ala1186Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411816G>CCA410556499PCNTn.88G>C
c.5776G>C (p.Ala1926Pro)
c.*4986G>C (n.*4986G>C)
c.5743G>C (p.Ala1915Pro)
n.6012G>C
c.5389G>C (p.Ala1797Pro)
c.5854G>C (p.Ala1952Pro)
c.5824G>C (p.Ala1942Pro)
c.5422G>C (p.Ala1808Pro)
c.4660G>C (p.Ala1554Pro)
c.3556G>C (p.Ala1186Pro)
21g.46411816G=CA2392665075PCNTn.88G=
c.5776G= (p.Ala1926=)
c.*4986G= (n.*4986G=)
c.5743G= (p.Ala1915=)
n.6012G=
c.5389G= (p.Ala1797=)
c.5854G= (p.Ala1952=)
c.5824G= (p.Ala1942=)
c.5422G= (p.Ala1808=)
c.4660G= (p.Ala1554=)
c.3556G= (p.Ala1186=)
21g.46411816G>TCA410556496PCNTn.88G>T
c.5776G>T (p.Ala1926Ser)
c.*4986G>T (n.*4986G>T)
c.5743G>T (p.Ala1915Ser)
n.6012G>T
c.5389G>T (p.Ala1797Ser)
c.5854G>T (p.Ala1952Ser)
c.5824G>T (p.Ala1942Ser)
c.5422G>T (p.Ala1808Ser)
c.4660G>T (p.Ala1554Ser)
c.3556G>T (p.Ala1186Ser)
 gnomAD v4
21g.46411817C>ACA410556503PCNTn.89C>A
c.5777C>A (p.Ala1926Glu)
c.*4987C>A (n.*4987C>A)
c.5744C>A (p.Ala1915Glu)
n.6013C>A
c.5390C>A (p.Ala1797Glu)
c.5855C>A (p.Ala1952Glu)
c.5825C>A (p.Ala1942Glu)
c.5423C>A (p.Ala1808Glu)
c.4661C>A (p.Ala1554Glu)
c.3557C>A (p.Ala1186Glu)
 dbSNP gnomAD v4
21g.46411817C=CA2392665076PCNTn.89C=
c.5777C= (p.Ala1926=)
c.*4987C= (n.*4987C=)
c.5744C= (p.Ala1915=)
n.6013C=
c.5390C= (p.Ala1797=)
c.5855C= (p.Ala1952=)
c.5825C= (p.Ala1942=)
c.5423C= (p.Ala1808=)
c.4661C= (p.Ala1554=)
c.3557C= (p.Ala1186=)
21g.46411817C>GCA410556504PCNTn.89C>G
c.5777C>G (p.Ala1926Gly)
c.*4987C>G (n.*4987C>G)
c.5744C>G (p.Ala1915Gly)
n.6013C>G
c.5390C>G (p.Ala1797Gly)
c.5855C>G (p.Ala1952Gly)
c.5825C>G (p.Ala1942Gly)
c.5423C>G (p.Ala1808Gly)
c.4661C>G (p.Ala1554Gly)
c.3557C>G (p.Ala1186Gly)
21g.46411817C>TCA410556507PCNTn.89C>T
c.5777C>T (p.Ala1926Val)
c.*4987C>T (n.*4987C>T)
c.5744C>T (p.Ala1915Val)
n.6013C>T
c.5390C>T (p.Ala1797Val)
c.5855C>T (p.Ala1952Val)
c.5825C>T (p.Ala1942Val)
c.5423C>T (p.Ala1808Val)
c.4661C>T (p.Ala1554Val)
c.3557C>T (p.Ala1186Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46411818G>ACA513173998PCNTn.90G>A
c.5778G>A (p.Ala1926=)
c.*4988G>A (n.*4988G>A)
c.5745G>A (p.Ala1915=)
n.6014G>A
c.5391G>A (p.Ala1797=)
c.5856G>A (p.Ala1952=)
c.5826G>A (p.Ala1942=)
c.5424G>A (p.Ala1808=)
c.4662G>A (p.Ala1554=)
c.3558G>A (p.Ala1186=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46411818G>CCA513173999PCNTn.90G>C
c.5778G>C (p.Ala1926=)
c.*4988G>C (n.*4988G>C)
c.5745G>C (p.Ala1915=)
n.6014G>C
c.5391G>C (p.Ala1797=)
c.5856G>C (p.Ala1952=)
c.5826G>C (p.Ala1942=)
c.5424G>C (p.Ala1808=)
c.4662G>C (p.Ala1554=)
c.3558G>C (p.Ala1186=)
 dbSNP
21g.46411818G=CA2392665077PCNTn.90G=
c.5778G= (p.Ala1926=)
c.*4988G= (n.*4988G=)
c.5745G= (p.Ala1915=)
n.6014G=
c.5391G= (p.Ala1797=)
c.5856G= (p.Ala1952=)
c.5826G= (p.Ala1942=)
c.5424G= (p.Ala1808=)
c.4662G= (p.Ala1554=)
c.3558G= (p.Ala1186=)
21g.46411818G>TCA513174000PCNTn.90G>T
c.5778G>T (p.Ala1926=)
c.*4988G>T (n.*4988G>T)
c.5745G>T (p.Ala1915=)
n.6014G>T
c.5391G>T (p.Ala1797=)
c.5856G>T (p.Ala1952=)
c.5826G>T (p.Ala1942=)
c.5424G>T (p.Ala1808=)
c.4662G>T (p.Ala1554=)
c.3558G>T (p.Ala1186=)
 gnomAD v4
21g.46411819C>ACA410556511PCNTn.91C>A
c.5779C>A (p.Pro1927Thr)
c.*4989C>A (n.*4989C>A)
c.5746C>A (p.Pro1916Thr)
n.6015C>A
c.5392C>A (p.Pro1798Thr)
c.5857C>A (p.Pro1953Thr)
c.5827C>A (p.Pro1943Thr)
c.5425C>A (p.Pro1809Thr)
c.4663C>A (p.Pro1555Thr)
c.3559C>A (p.Pro1187Thr)
 gnomAD v4
21g.46411819C>GCA410556513PCNTn.91C>G
c.5779C>G (p.Pro1927Ala)
c.*4989C>G (n.*4989C>G)
c.5746C>G (p.Pro1916Ala)
n.6015C>G
c.5392C>G (p.Pro1798Ala)
c.5857C>G (p.Pro1953Ala)
c.5827C>G (p.Pro1943Ala)
c.5425C>G (p.Pro1809Ala)
c.4663C>G (p.Pro1555Ala)
c.3559C>G (p.Pro1187Ala)
21g.46411819C>TCA410556515PCNTn.91C>T
c.5779C>T (p.Pro1927Ser)
c.*4989C>T (n.*4989C>T)
c.5746C>T (p.Pro1916Ser)
n.6015C>T
c.5392C>T (p.Pro1798Ser)
c.5857C>T (p.Pro1953Ser)
c.5827C>T (p.Pro1943Ser)
c.5425C>T (p.Pro1809Ser)
c.4663C>T (p.Pro1555Ser)
c.3559C>T (p.Pro1187Ser)
 gnomAD v4
21g.46411820C>ACA410556517PCNTn.92C>A
c.5780C>A (p.Pro1927His)
c.*4990C>A (n.*4990C>A)
c.5747C>A (p.Pro1916His)
n.6016C>A
c.5393C>A (p.Pro1798His)
c.5858C>A (p.Pro1953His)
c.5828C>A (p.Pro1943His)
c.5426C>A (p.Pro1809His)
c.4664C>A (p.Pro1555His)
c.3560C>A (p.Pro1187His)
21g.46411820C=CA2392665078PCNTn.92C=
c.5780C= (p.Pro1927=)
c.*4990C= (n.*4990C=)
c.5747C= (p.Pro1916=)
n.6016C=
c.5393C= (p.Pro1798=)
c.5858C= (p.Pro1953=)
c.5828C= (p.Pro1943=)
c.5426C= (p.Pro1809=)
c.4664C= (p.Pro1555=)
c.3560C= (p.Pro1187=)
21g.46411820C>GCA410556518PCNTn.92C>G
c.5780C>G (p.Pro1927Arg)
c.*4990C>G (n.*4990C>G)
c.5747C>G (p.Pro1916Arg)
n.6016C>G
c.5393C>G (p.Pro1798Arg)
c.5858C>G (p.Pro1953Arg)
c.5828C>G (p.Pro1943Arg)
c.5426C>G (p.Pro1809Arg)
c.4664C>G (p.Pro1555Arg)
c.3560C>G (p.Pro1187Arg)
 gnomAD v4
21g.46411820C>TCA10080080PCNTn.92C>T
c.5780C>T (p.Pro1927Leu)
c.*4990C>T (n.*4990C>T)
c.5747C>T (p.Pro1916Leu)
n.6016C>T
c.5393C>T (p.Pro1798Leu)
c.5858C>T (p.Pro1953Leu)
c.5828C>T (p.Pro1943Leu)
c.5426C>T (p.Pro1809Leu)
c.4664C>T (p.Pro1555Leu)
c.3560C>T (p.Pro1187Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46411821T>ACA513174006PCNTn.93T>A
c.5781T>A (p.Pro1927=)
c.*4991T>A (n.*4991T>A)
c.5748T>A (p.Pro1916=)
n.6017T>A
c.5394T>A (p.Pro1798=)
c.5859T>A (p.Pro1953=)
c.5829T>A (p.Pro1943=)
c.5427T>A (p.Pro1809=)
c.4665T>A (p.Pro1555=)
c.3561T>A (p.Pro1187=)
21g.46411821T>CCA513174008PCNTn.93T>C
c.5781T>C (p.Pro1927=)
c.*4991T>C (n.*4991T>C)
c.5748T>C (p.Pro1916=)
n.6017T>C
c.5394T>C (p.Pro1798=)
c.5859T>C (p.Pro1953=)
c.5829T>C (p.Pro1943=)
c.5427T>C (p.Pro1809=)
c.4665T>C (p.Pro1555=)
c.3561T>C (p.Pro1187=)
21g.46411821T>GCA513174007PCNTn.93T>G
c.5781T>G (p.Pro1927=)
c.*4991T>G (n.*4991T>G)
c.5748T>G (p.Pro1916=)
n.6017T>G
c.5394T>G (p.Pro1798=)
c.5859T>G (p.Pro1953=)
c.5829T>G (p.Pro1943=)
c.5427T>G (p.Pro1809=)
c.4665T>G (p.Pro1555=)
c.3561T>G (p.Pro1187=)
21g.46411822C>ACA410556527PCNTn.94C>A
c.5782C>A (p.Pro1928Thr)
c.*4992C>A (n.*4992C>A)
c.5749C>A (p.Pro1917Thr)
n.6018C>A
c.5395C>A (p.Pro1799Thr)
c.5860C>A (p.Pro1954Thr)
c.5830C>A (p.Pro1944Thr)
c.5428C>A (p.Pro1810Thr)
c.4666C>A (p.Pro1556Thr)
c.3562C>A (p.Pro1188Thr)
21g.46411822C>GCA410556530PCNTn.94C>G
c.5782C>G (p.Pro1928Ala)
c.*4992C>G (n.*4992C>G)
c.5749C>G (p.Pro1917Ala)
n.6018C>G
c.5395C>G (p.Pro1799Ala)
c.5860C>G (p.Pro1954Ala)
c.5830C>G (p.Pro1944Ala)
c.5428C>G (p.Pro1810Ala)
c.4666C>G (p.Pro1556Ala)
c.3562C>G (p.Pro1188Ala)
21g.46411822C>TCA410556519PCNTn.94C>T
c.5782C>T (p.Pro1928Ser)
c.*4992C>T (n.*4992C>T)
c.5749C>T (p.Pro1917Ser)
n.6018C>T
c.5395C>T (p.Pro1799Ser)
c.5860C>T (p.Pro1954Ser)
c.5830C>T (p.Pro1944Ser)
c.5428C>T (p.Pro1810Ser)
c.4666C>T (p.Pro1556Ser)
c.3562C>T (p.Pro1188Ser)
 gnomAD v4
21g.46411823C>ACA410556533PCNTn.95C>A
c.5783C>A (p.Pro1928His)
c.*4993C>A (n.*4993C>A)
c.5750C>A (p.Pro1917His)
n.6019C>A
c.5396C>A (p.Pro1799His)
c.5861C>A (p.Pro1954His)
c.5831C>A (p.Pro1944His)
c.5429C>A (p.Pro1810His)
c.4667C>A (p.Pro1556His)
c.3563C>A (p.Pro1188His)
21g.46411823C>GCA410556536PCNTn.95C>G
c.5783C>G (p.Pro1928Arg)
c.*4993C>G (n.*4993C>G)
c.5750C>G (p.Pro1917Arg)
n.6019C>G
c.5396C>G (p.Pro1799Arg)
c.5861C>G (p.Pro1954Arg)
c.5831C>G (p.Pro1944Arg)
c.5429C>G (p.Pro1810Arg)
c.4667C>G (p.Pro1556Arg)
c.3563C>G (p.Pro1188Arg)
21g.46411823C>TCA410556541PCNTn.95C>T
c.5783C>T (p.Pro1928Leu)
c.*4993C>T (n.*4993C>T)
c.5750C>T (p.Pro1917Leu)
n.6019C>T
c.5396C>T (p.Pro1799Leu)
c.5861C>T (p.Pro1954Leu)
c.5831C>T (p.Pro1944Leu)
c.5429C>T (p.Pro1810Leu)
c.4667C>T (p.Pro1556Leu)
c.3563C>T (p.Pro1188Leu)
21g.46411824C>ACA513174011PCNTn.96C>A
c.5784C>A (p.Pro1928=)
c.*4994C>A (n.*4994C>A)
c.5751C>A (p.Pro1917=)
n.6020C>A
c.5397C>A (p.Pro1799=)
c.5862C>A (p.Pro1954=)
c.5832C>A (p.Pro1944=)
c.5430C>A (p.Pro1810=)
c.4668C>A (p.Pro1556=)
c.3564C>A (p.Pro1188=)
 dbSNP gnomAD v2 gnomAD v4
21g.46411824C=CA2392665079PCNTn.96C=
c.5784C= (p.Pro1928=)
c.*4994C= (n.*4994C=)
c.5751C= (p.Pro1917=)
n.6020C=
c.5397C= (p.Pro1799=)
c.5862C= (p.Pro1954=)
c.5832C= (p.Pro1944=)
c.5430C= (p.Pro1810=)
c.4668C= (p.Pro1556=)
c.3564C= (p.Pro1188=)
21g.46411824C>GCA513174012PCNTn.96C>G
c.5784C>G (p.Pro1928=)
c.*4994C>G (n.*4994C>G)
c.5751C>G (p.Pro1917=)
n.6020C>G
c.5397C>G (p.Pro1799=)
c.5862C>G (p.Pro1954=)
c.5832C>G (p.Pro1944=)
c.5430C>G (p.Pro1810=)
c.4668C>G (p.Pro1556=)
c.3564C>G (p.Pro1188=)
 dbSNP gnomAD v2 gnomAD v4
21g.46411824C>TCA10080081PCNTn.96C>T
c.5784C>T (p.Pro1928=)
c.*4994C>T (n.*4994C>T)
c.5751C>T (p.Pro1917=)
n.6020C>T
c.5397C>T (p.Pro1799=)
c.5862C>T (p.Pro1954=)
c.5832C>T (p.Pro1944=)
c.5430C>T (p.Pro1810=)
c.4668C>T (p.Pro1556=)
c.3564C>T (p.Pro1188=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411825G>ACA10080082PCNTn.97G>A
c.5785G>A (p.Glu1929Lys)
c.*4995G>A (n.*4995G>A)
c.5752G>A (p.Glu1918Lys)
n.6021G>A
c.5398G>A (p.Glu1800Lys)
c.5863G>A (p.Glu1955Lys)
c.5833G>A (p.Glu1945Lys)
c.5431G>A (p.Glu1811Lys)
c.4669G>A (p.Glu1557Lys)
c.3565G>A (p.Glu1189Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46411825G>CCA410556551PCNTn.97G>C
c.5785G>C (p.Glu1929Gln)
c.*4995G>C (n.*4995G>C)
c.5752G>C (p.Glu1918Gln)
n.6021G>C
c.5398G>C (p.Glu1800Gln)
c.5863G>C (p.Glu1955Gln)
c.5833G>C (p.Glu1945Gln)
c.5431G>C (p.Glu1811Gln)
c.4669G>C (p.Glu1557Gln)
c.3565G>C (p.Glu1189Gln)
 dbSNP gnomAD v4
21g.46411825G=CA2392665080PCNTn.97G=
c.5785G= (p.Glu1929=)
c.*4995G= (n.*4995G=)
c.5752G= (p.Glu1918=)
n.6021G=
c.5398G= (p.Glu1800=)
c.5863G= (p.Glu1955=)
c.5833G= (p.Glu1945=)
c.5431G= (p.Glu1811=)
c.4669G= (p.Glu1557=)
c.3565G= (p.Glu1189=)
21g.46411825G>TCA410556554PCNTn.97G>T
c.5785G>T (p.Glu1929Ter)
c.*4995G>T (n.*4995G>T)
c.5752G>T (p.Glu1918Ter)
n.6021G>T
c.5398G>T (p.Glu1800Ter)
c.5863G>T (p.Glu1955Ter)
c.5833G>T (p.Glu1945Ter)
c.5431G>T (p.Glu1811Ter)
c.4669G>T (p.Glu1557Ter)
c.3565G>T (p.Glu1189Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.46411826A=CA2392665081PCNTn.98A=
c.5786A= (p.Glu1929=)
c.*4996A= (n.*4996A=)
c.5753A= (p.Glu1918=)
n.6022A=
c.5399A= (p.Glu1800=)
c.5864A= (p.Glu1955=)
c.5834A= (p.Glu1945=)
c.5432A= (p.Glu1811=)
c.4670A= (p.Glu1557=)
c.3566A= (p.Glu1189=)
21g.46411826A>CCA410556559PCNTn.98A>C
c.5786A>C (p.Glu1929Ala)
c.*4996A>C (n.*4996A>C)
c.5753A>C (p.Glu1918Ala)
n.6022A>C
c.5399A>C (p.Glu1800Ala)
c.5864A>C (p.Glu1955Ala)
c.5834A>C (p.Glu1945Ala)
c.5432A>C (p.Glu1811Ala)
c.4670A>C (p.Glu1557Ala)
c.3566A>C (p.Glu1189Ala)
21g.46411826A>GCA410556560PCNTn.98A>G
c.5786A>G (p.Glu1929Gly)
c.*4996A>G (n.*4996A>G)
c.5753A>G (p.Glu1918Gly)
n.6022A>G
c.5399A>G (p.Glu1800Gly)
c.5864A>G (p.Glu1955Gly)
c.5834A>G (p.Glu1945Gly)
c.5432A>G (p.Glu1811Gly)
c.4670A>G (p.Glu1557Gly)
c.3566A>G (p.Glu1189Gly)
21g.46411826A>TCA410556562PCNTn.98A>T
c.5786A>T (p.Glu1929Val)
c.*4996A>T (n.*4996A>T)
c.5753A>T (p.Glu1918Val)
n.6022A>T
c.5399A>T (p.Glu1800Val)
c.5864A>T (p.Glu1955Val)
c.5834A>T (p.Glu1945Val)
c.5432A>T (p.Glu1811Val)
c.4670A>T (p.Glu1557Val)
c.3566A>T (p.Glu1189Val)
 dbSNP
21g.46411827G>ACA513174020PCNTn.99G>A
c.5787G>A (p.Glu1929=)
c.*4997G>A (n.*4997G>A)
c.5754G>A (p.Glu1918=)
n.6023G>A
c.5400G>A (p.Glu1800=)
c.5865G>A (p.Glu1955=)
c.5835G>A (p.Glu1945=)
c.5433G>A (p.Glu1811=)
c.4671G>A (p.Glu1557=)
c.3567G>A (p.Glu1189=)
 gnomAD v4
21g.46411827G>CCA410556565PCNTn.99G>C
c.5787G>C (p.Glu1929Asp)
c.*4997G>C (n.*4997G>C)
c.5754G>C (p.Glu1918Asp)
n.6023G>C
c.5400G>C (p.Glu1800Asp)
c.5865G>C (p.Glu1955Asp)
c.5835G>C (p.Glu1945Asp)
c.5433G>C (p.Glu1811Asp)
c.4671G>C (p.Glu1557Asp)
c.3567G>C (p.Glu1189Asp)
21g.46411827G>TCA410556566PCNTn.99G>T
c.5787G>T (p.Glu1929Asp)
c.*4997G>T (n.*4997G>T)
c.5754G>T (p.Glu1918Asp)
n.6023G>T
c.5400G>T (p.Glu1800Asp)
c.5865G>T (p.Glu1955Asp)
c.5835G>T (p.Glu1945Asp)
c.5433G>T (p.Glu1811Asp)
c.4671G>T (p.Glu1557Asp)
c.3567G>T (p.Glu1189Asp)
 gnomAD v4
21g.46411828C>ACA410556570PCNTn.100C>A
c.5788C>A (p.Leu1930Met)
c.*4998C>A (n.*4998C>A)
c.5755C>A (p.Leu1919Met)
n.6024C>A
c.5401C>A (p.Leu1801Met)
c.5866C>A (p.Leu1956Met)
c.5836C>A (p.Leu1946Met)
c.5434C>A (p.Leu1812Met)
c.4672C>A (p.Leu1558Met)
c.3568C>A (p.Leu1190Met)
 gnomAD v4
21g.46411828C>GCA410556567PCNTn.100C>G
c.5788C>G (p.Leu1930Val)
c.*4998C>G (n.*4998C>G)
c.5755C>G (p.Leu1919Val)
n.6024C>G
c.5401C>G (p.Leu1801Val)
c.5866C>G (p.Leu1956Val)
c.5836C>G (p.Leu1946Val)
c.5434C>G (p.Leu1812Val)
c.4672C>G (p.Leu1558Val)
c.3568C>G (p.Leu1190Val)
21g.46411828C>TCA513174021PCNTn.100C>T
c.5788C>T (p.Leu1930=)
c.*4998C>T (n.*4998C>T)
c.5755C>T (p.Leu1919=)
n.6024C>T
c.5401C>T (p.Leu1801=)
c.5866C>T (p.Leu1956=)
c.5836C>T (p.Leu1946=)
c.5434C>T (p.Leu1812=)
c.4672C>T (p.Leu1558=)
c.3568C>T (p.Leu1190=)
21g.46411829T>ACA410556573PCNTn.101T>A
c.5789T>A (p.Leu1930Gln)
c.*4999T>A (n.*4999T>A)
c.5756T>A (p.Leu1919Gln)
n.6025T>A
c.5402T>A (p.Leu1801Gln)
c.5867T>A (p.Leu1956Gln)
c.5837T>A (p.Leu1946Gln)
c.5435T>A (p.Leu1812Gln)
c.4673T>A (p.Leu1558Gln)
c.3569T>A (p.Leu1190Gln)
21g.46411829T>CCA10080083PCNTn.101T>C
c.5789T>C (p.Leu1930Pro)
c.*4999T>C (n.*4999T>C)
c.5756T>C (p.Leu1919Pro)
n.6025T>C
c.5402T>C (p.Leu1801Pro)
c.5867T>C (p.Leu1956Pro)
c.5837T>C (p.Leu1946Pro)
c.5435T>C (p.Leu1812Pro)
c.4673T>C (p.Leu1558Pro)
c.3569T>C (p.Leu1190Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.46411829T>GCA410556581PCNTn.101T>G
c.5789T>G (p.Leu1930Arg)
c.*4999T>G (n.*4999T>G)
c.5756T>G (p.Leu1919Arg)
n.6025T>G
c.5402T>G (p.Leu1801Arg)
c.5867T>G (p.Leu1956Arg)
c.5837T>G (p.Leu1946Arg)
c.5435T>G (p.Leu1812Arg)
c.4673T>G (p.Leu1558Arg)
c.3569T>G (p.Leu1190Arg)
21g.46411829T=CA2392665082PCNTn.101T=
c.5789T= (p.Leu1930=)
c.*4999T= (n.*4999T=)
c.5756T= (p.Leu1919=)
n.6025T=
c.5402T= (p.Leu1801=)
c.5867T= (p.Leu1956=)
c.5837T= (p.Leu1946=)
c.5435T= (p.Leu1812=)
c.4673T= (p.Leu1558=)
c.3569T= (p.Leu1190=)
21g.46411830G>ACA513174029PCNTn.102G>A
c.5790G>A (p.Leu1930=)
c.*5000G>A (n.*5000G>A)
c.5757G>A (p.Leu1919=)
n.6026G>A
c.5403G>A (p.Leu1801=)
c.5868G>A (p.Leu1956=)
c.5838G>A (p.Leu1946=)
c.5436G>A (p.Leu1812=)
c.4674G>A (p.Leu1558=)
c.3570G>A (p.Leu1190=)
21g.46411830G>CCA513174027PCNTn.102G>C
c.5790G>C (p.Leu1930=)
c.*5000G>C (n.*5000G>C)
c.5757G>C (p.Leu1919=)
n.6026G>C
c.5403G>C (p.Leu1801=)
c.5868G>C (p.Leu1956=)
c.5838G>C (p.Leu1946=)
c.5436G>C (p.Leu1812=)
c.4674G>C (p.Leu1558=)
c.3570G>C (p.Leu1190=)
21g.46411830G>TCA513174028PCNTn.102G>T
c.5790G>T (p.Leu1930=)
c.*5000G>T (n.*5000G>T)
c.5757G>T (p.Leu1919=)
n.6026G>T
c.5403G>T (p.Leu1801=)
c.5868G>T (p.Leu1956=)
c.5838G>T (p.Leu1946=)
c.5436G>T (p.Leu1812=)
c.4674G>T (p.Leu1558=)
c.3570G>T (p.Leu1190=)
 ClinVar dbSNP gnomAD v4
21g.46411831C>ACA410556584PCNTn.103C>A
c.5791C>A (p.Gln1931Lys)
c.*5001C>A (n.*5001C>A)
c.5758C>A (p.Gln1920Lys)
n.6027C>A
c.5404C>A (p.Gln1802Lys)
c.5869C>A (p.Gln1957Lys)
c.5839C>A (p.Gln1947Lys)
c.5437C>A (p.Gln1813Lys)
c.4675C>A (p.Gln1559Lys)
c.3571C>A (p.Gln1191Lys)
21g.46411831C>GCA410556587PCNTn.103C>G
c.5791C>G (p.Gln1931Glu)
c.*5001C>G (n.*5001C>G)
c.5758C>G (p.Gln1920Glu)
n.6027C>G
c.5404C>G (p.Gln1802Glu)
c.5869C>G (p.Gln1957Glu)
c.5839C>G (p.Gln1947Glu)
c.5437C>G (p.Gln1813Glu)
c.4675C>G (p.Gln1559Glu)
c.3571C>G (p.Gln1191Glu)
21g.46411831C>TCA410556594PCNTn.103C>T
c.5791C>T (p.Gln1931Ter)
c.*5001C>T (n.*5001C>T)
c.5758C>T (p.Gln1920Ter)
n.6027C>T
c.5404C>T (p.Gln1802Ter)
c.5869C>T (p.Gln1957Ter)
c.5839C>T (p.Gln1947Ter)
c.5437C>T (p.Gln1813Ter)
c.4675C>T (p.Gln1559Ter)
c.3571C>T (p.Gln1191Ter)
21g.46411832A>CCA410556598PCNTn.104A>C
c.5792A>C (p.Gln1931Pro)
c.*5002A>C (n.*5002A>C)
c.5759A>C (p.Gln1920Pro)
n.6028A>C
c.5405A>C (p.Gln1802Pro)
c.5870A>C (p.Gln1957Pro)
c.5840A>C (p.Gln1947Pro)
c.5438A>C (p.Gln1813Pro)
c.4676A>C (p.Gln1559Pro)
c.3572A>C (p.Gln1191Pro)
21g.46411832A>GCA410556601PCNTn.104A>G
c.5792A>G (p.Gln1931Arg)
c.*5002A>G (n.*5002A>G)
c.5759A>G (p.Gln1920Arg)
n.6028A>G
c.5405A>G (p.Gln1802Arg)
c.5870A>G (p.Gln1957Arg)
c.5840A>G (p.Gln1947Arg)
c.5438A>G (p.Gln1813Arg)
c.4676A>G (p.Gln1559Arg)
c.3572A>G (p.Gln1191Arg)
21g.46411832A>TCA410556603PCNTn.104A>T
c.5792A>T (p.Gln1931Leu)
c.*5002A>T (n.*5002A>T)
c.5759A>T (p.Gln1920Leu)
n.6028A>T
c.5405A>T (p.Gln1802Leu)
c.5870A>T (p.Gln1957Leu)
c.5840A>T (p.Gln1947Leu)
c.5438A>T (p.Gln1813Leu)
c.4676A>T (p.Gln1559Leu)
c.3572A>T (p.Gln1191Leu)
21g.46411833G>ACA513174031PCNTn.105G>A
c.5793G>A (p.Gln1931=)
c.*5003G>A (n.*5003G>A)
c.5760G>A (p.Gln1920=)
n.6029G>A
c.5406G>A (p.Gln1802=)
c.5871G>A (p.Gln1957=)
c.5841G>A (p.Gln1947=)
c.5439G>A (p.Gln1813=)
c.4677G>A (p.Gln1559=)
c.3573G>A (p.Gln1191=)
21g.46411833G>CCA410556606PCNTn.105G>C
c.5793G>C (p.Gln1931His)
c.*5003G>C (n.*5003G>C)
c.5760G>C (p.Gln1920His)
n.6029G>C
c.5406G>C (p.Gln1802His)
c.5871G>C (p.Gln1957His)
c.5841G>C (p.Gln1947His)
c.5439G>C (p.Gln1813His)
c.4677G>C (p.Gln1559His)
c.3573G>C (p.Gln1191His)
 gnomAD v4
21g.46411833G>TCA410556610PCNTn.105G>T
c.5793G>T (p.Gln1931His)
c.*5003G>T (n.*5003G>T)
c.5760G>T (p.Gln1920His)
n.6029G>T
c.5406G>T (p.Gln1802His)
c.5871G>T (p.Gln1957His)
c.5841G>T (p.Gln1947His)
c.5439G>T (p.Gln1813His)
c.4677G>T (p.Gln1559His)
c.3573G>T (p.Gln1191His)
 gnomAD v4
21g.46411834T>ACA410556615PCNTn.106T>A
c.5794T>A (p.Trp1932Arg)
c.*5004T>A (n.*5004T>A)
c.5761T>A (p.Trp1921Arg)
n.6030T>A
c.5407T>A (p.Trp1803Arg)
c.5872T>A (p.Trp1958Arg)
c.5842T>A (p.Trp1948Arg)
c.5440T>A (p.Trp1814Arg)
c.4678T>A (p.Trp1560Arg)
c.3574T>A (p.Trp1192Arg)
21g.46411834T>CCA10080084PCNTn.106T>C
c.5794T>C (p.Trp1932Arg)
c.*5004T>C (n.*5004T>C)
c.5761T>C (p.Trp1921Arg)
n.6030T>C
c.5407T>C (p.Trp1803Arg)
c.5872T>C (p.Trp1958Arg)
c.5842T>C (p.Trp1948Arg)
c.5440T>C (p.Trp1814Arg)
c.4678T>C (p.Trp1560Arg)
c.3574T>C (p.Trp1192Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46411834T>GCA410556620PCNTn.106T>G
c.5794T>G (p.Trp1932Gly)
c.*5004T>G (n.*5004T>G)
c.5761T>G (p.Trp1921Gly)
n.6030T>G
c.5407T>G (p.Trp1803Gly)
c.5872T>G (p.Trp1958Gly)
c.5842T>G (p.Trp1948Gly)
c.5440T>G (p.Trp1814Gly)
c.4678T>G (p.Trp1560Gly)
c.3574T>G (p.Trp1192Gly)
 dbSNP
21g.46411834T=CA2392665083PCNTn.106T=
c.5794T= (p.Trp1932=)
c.*5004T= (n.*5004T=)
c.5761T= (p.Trp1921=)
n.6030T=
c.5407T= (p.Trp1803=)
c.5872T= (p.Trp1958=)
c.5842T= (p.Trp1948=)
c.5440T= (p.Trp1814=)
c.4678T= (p.Trp1560=)
c.3574T= (p.Trp1192=)
21g.46411835G>ACA410556628PCNTn.107G>A
c.5795G>A (p.Trp1932Ter)
c.*5005G>A (n.*5005G>A)
c.5762G>A (p.Trp1921Ter)
n.6031G>A
c.5408G>A (p.Trp1803Ter)
c.5873G>A (p.Trp1958Ter)
c.5843G>A (p.Trp1948Ter)
c.5441G>A (p.Trp1814Ter)
c.4679G>A (p.Trp1560Ter)
c.3575G>A (p.Trp1192Ter)
 gnomAD v4
21g.46411835G>CCA410556631PCNTn.107G>C
c.5795G>C (p.Trp1932Ser)
c.*5005G>C (n.*5005G>C)
c.5762G>C (p.Trp1921Ser)
n.6031G>C
c.5408G>C (p.Trp1803Ser)
c.5873G>C (p.Trp1958Ser)
c.5843G>C (p.Trp1948Ser)
c.5441G>C (p.Trp1814Ser)
c.4679G>C (p.Trp1560Ser)
c.3575G>C (p.Trp1192Ser)
21g.46411835G>TCA410556625PCNTn.107G>T
c.5795G>T (p.Trp1932Leu)
c.*5005G>T (n.*5005G>T)
c.5762G>T (p.Trp1921Leu)
n.6031G>T
c.5408G>T (p.Trp1803Leu)
c.5873G>T (p.Trp1958Leu)
c.5843G>T (p.Trp1948Leu)
c.5441G>T (p.Trp1814Leu)
c.4679G>T (p.Trp1560Leu)
c.3575G>T (p.Trp1192Leu)
21g.46411836G>ACA410556638PCNTn.108G>A
c.5796G>A (p.Trp1932Ter)
c.*5006G>A (n.*5006G>A)
c.5763G>A (p.Trp1921Ter)
n.6032G>A
c.5409G>A (p.Trp1803Ter)
c.5874G>A (p.Trp1958Ter)
c.5844G>A (p.Trp1948Ter)
c.5442G>A (p.Trp1814Ter)
c.4680G>A (p.Trp1560Ter)
c.3576G>A (p.Trp1192Ter)
 gnomAD v4
21g.46411836G>CCA410556635PCNTn.108G>C
c.5796G>C (p.Trp1932Cys)
c.*5006G>C (n.*5006G>C)
c.5763G>C (p.Trp1921Cys)
n.6032G>C
c.5409G>C (p.Trp1803Cys)
c.5874G>C (p.Trp1958Cys)
c.5844G>C (p.Trp1948Cys)
c.5442G>C (p.Trp1814Cys)
c.4680G>C (p.Trp1560Cys)
c.3576G>C (p.Trp1192Cys)
21g.46411836G>TCA410556639PCNTn.108G>T
c.5796G>T (p.Trp1932Cys)
c.*5006G>T (n.*5006G>T)
c.5763G>T (p.Trp1921Cys)
n.6032G>T
c.5409G>T (p.Trp1803Cys)
c.5874G>T (p.Trp1958Cys)
c.5844G>T (p.Trp1948Cys)
c.5442G>T (p.Trp1814Cys)
c.4680G>T (p.Trp1560Cys)
c.3576G>T (p.Trp1192Cys)
 gnomAD v4
21g.46411837C>ACA410556640PCNTn.109C>A
c.5797C>A (p.Leu1933Ile)
c.*5007C>A (n.*5007C>A)
c.5764C>A (p.Leu1922Ile)
n.6033C>A
c.5410C>A (p.Leu1804Ile)
c.5875C>A (p.Leu1959Ile)
c.5845C>A (p.Leu1949Ile)
c.5443C>A (p.Leu1815Ile)
c.4681C>A (p.Leu1561Ile)
c.3577C>A (p.Leu1193Ile)
21g.46411837C=CA2392665084PCNTn.109C=
c.5797C= (p.Leu1933=)
c.*5007C= (n.*5007C=)
c.5764C= (p.Leu1922=)
n.6033C=
c.5410C= (p.Leu1804=)
c.5875C= (p.Leu1959=)
c.5845C= (p.Leu1949=)
c.5443C= (p.Leu1815=)
c.4681C= (p.Leu1561=)
c.3577C= (p.Leu1193=)
21g.46411837C>GCA10080085PCNTn.109C>G
c.5797C>G (p.Leu1933Val)
c.*5007C>G (n.*5007C>G)
c.5764C>G (p.Leu1922Val)
n.6033C>G
c.5410C>G (p.Leu1804Val)
c.5875C>G (p.Leu1959Val)
c.5845C>G (p.Leu1949Val)
c.5443C>G (p.Leu1815Val)
c.4681C>G (p.Leu1561Val)
c.3577C>G (p.Leu1193Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46411837C>TCA410556642PCNTn.109C>T
c.5797C>T (p.Leu1933Phe)
c.*5007C>T (n.*5007C>T)
c.5764C>T (p.Leu1922Phe)
n.6033C>T
c.5410C>T (p.Leu1804Phe)
c.5875C>T (p.Leu1959Phe)
c.5845C>T (p.Leu1949Phe)
c.5443C>T (p.Leu1815Phe)
c.4681C>T (p.Leu1561Phe)
c.3577C>T (p.Leu1193Phe)
 gnomAD v4
21g.46411838T>ACA410556647PCNTn.110T>A
c.5798T>A (p.Leu1933His)
c.*5008T>A (n.*5008T>A)
c.5765T>A (p.Leu1922His)
n.6034T>A
c.5411T>A (p.Leu1804His)
c.5876T>A (p.Leu1959His)
c.5846T>A (p.Leu1949His)
c.5444T>A (p.Leu1815His)
c.4682T>A (p.Leu1561His)
c.3578T>A (p.Leu1193His)
21g.46411838T>CCA410556650PCNTn.110T>C
c.5798T>C (p.Leu1933Pro)
c.*5008T>C (n.*5008T>C)
c.5765T>C (p.Leu1922Pro)
n.6034T>C
c.5411T>C (p.Leu1804Pro)
c.5876T>C (p.Leu1959Pro)
c.5846T>C (p.Leu1949Pro)
c.5444T>C (p.Leu1815Pro)
c.4682T>C (p.Leu1561Pro)
c.3578T>C (p.Leu1193Pro)
21g.46411838T>GCA410556656PCNTn.110T>G
c.5798T>G (p.Leu1933Arg)
c.*5008T>G (n.*5008T>G)
c.5765T>G (p.Leu1922Arg)
n.6034T>G
c.5411T>G (p.Leu1804Arg)
c.5876T>G (p.Leu1959Arg)
c.5846T>G (p.Leu1949Arg)
c.5444T>G (p.Leu1815Arg)
c.4682T>G (p.Leu1561Arg)
c.3578T>G (p.Leu1193Arg)
21g.46411839C>ACA513174035PCNTn.111C>A
c.5799C>A (p.Leu1933=)
c.*5009C>A (n.*5009C>A)
c.5766C>A (p.Leu1922=)
n.6035C>A
c.5412C>A (p.Leu1804=)
c.5877C>A (p.Leu1959=)
c.5847C>A (p.Leu1949=)
c.5445C>A (p.Leu1815=)
c.4683C>A (p.Leu1561=)
c.3579C>A (p.Leu1193=)
21g.46411839C>GCA513174036PCNTn.111C>G
c.5799C>G (p.Leu1933=)
c.*5009C>G (n.*5009C>G)
c.5766C>G (p.Leu1922=)
n.6035C>G
c.5412C>G (p.Leu1804=)
c.5877C>G (p.Leu1959=)
c.5847C>G (p.Leu1949=)
c.5445C>G (p.Leu1815=)
c.4683C>G (p.Leu1561=)
c.3579C>G (p.Leu1193=)
21g.46411839C>TCA513174038PCNTn.111C>T
c.5799C>T (p.Leu1933=)
c.*5009C>T (n.*5009C>T)
c.5766C>T (p.Leu1922=)
n.6035C>T
c.5412C>T (p.Leu1804=)
c.5877C>T (p.Leu1959=)
c.5847C>T (p.Leu1949=)
c.5445C>T (p.Leu1815=)
c.4683C>T (p.Leu1561=)
c.3579C>T (p.Leu1193=)
 gnomAD v4
21g.46411840C>ACA513174040PCNTn.112C>A
c.5800C>A (p.Arg1934=)
c.*5010C>A (n.*5010C>A)
c.5767C>A (p.Arg1923=)
n.6036C>A
c.5413C>A (p.Arg1805=)
c.5878C>A (p.Arg1960=)
c.5848C>A (p.Arg1950=)
c.5446C>A (p.Arg1816=)
c.4684C>A (p.Arg1562=)
c.3580C>A (p.Arg1194=)
 gnomAD v4
21g.46411840C=CA2392665085PCNTn.112C=
c.5800C= (p.Arg1934=)
c.*5010C= (n.*5010C=)
c.5767C= (p.Arg1923=)
n.6036C=
c.5413C= (p.Arg1805=)
c.5878C= (p.Arg1960=)
c.5848C= (p.Arg1950=)
c.5446C= (p.Arg1816=)
c.4684C= (p.Arg1562=)
c.3580C= (p.Arg1194=)
21g.46411840C>GCA410556670PCNTn.112C>G
c.5800C>G (p.Arg1934Gly)
c.*5010C>G (n.*5010C>G)
c.5767C>G (p.Arg1923Gly)
n.6036C>G
c.5413C>G (p.Arg1805Gly)
c.5878C>G (p.Arg1960Gly)
c.5848C>G (p.Arg1950Gly)
c.5446C>G (p.Arg1816Gly)
c.4684C>G (p.Arg1562Gly)
c.3580C>G (p.Arg1194Gly)
21g.46411840C>TCA250510PCNTn.112C>T
c.5800C>T (p.Arg1934Ter)
c.*5010C>T (n.*5010C>T)
c.5767C>T (p.Arg1923Ter)
n.6036C>T
c.5413C>T (p.Arg1805Ter)
c.5878C>T (p.Arg1960Ter)
c.5848C>T (p.Arg1950Ter)
c.5446C>T (p.Arg1816Ter)
c.4684C>T (p.Arg1562Ter)
c.3580C>T (p.Arg1194Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.46411841G>ACA10080086PCNTn.113G>A
c.5801G>A (p.Arg1934Gln)
c.*5011G>A (n.*5011G>A)
c.5768G>A (p.Arg1923Gln)
n.6037G>A
c.5414G>A (p.Arg1805Gln)
c.5879G>A (p.Arg1960Gln)
c.5849G>A (p.Arg1950Gln)
c.5447G>A (p.Arg1816Gln)
c.4685G>A (p.Arg1562Gln)
c.3581G>A (p.Arg1194Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411841G>CCA410556676PCNTn.113G>C
c.5801G>C (p.Arg1934Pro)
c.*5011G>C (n.*5011G>C)
c.5768G>C (p.Arg1923Pro)
n.6037G>C
c.5414G>C (p.Arg1805Pro)
c.5879G>C (p.Arg1960Pro)
c.5849G>C (p.Arg1950Pro)
c.5447G>C (p.Arg1816Pro)
c.4685G>C (p.Arg1562Pro)
c.3581G>C (p.Arg1194Pro)
21g.46411841G=CA2392665086PCNTn.113G=
c.5801G= (p.Arg1934=)
c.*5011G= (n.*5011G=)
c.5768G= (p.Arg1923=)
n.6037G=
c.5414G= (p.Arg1805=)
c.5879G= (p.Arg1960=)
c.5849G= (p.Arg1950=)
c.5447G= (p.Arg1816=)
c.4685G= (p.Arg1562=)
c.3581G= (p.Arg1194=)
21g.46411841G>TCA321998169PCNTn.113G>T
c.5801G>T (p.Arg1934Leu)
c.*5011G>T (n.*5011G>T)
c.5768G>T (p.Arg1923Leu)
n.6037G>T
c.5414G>T (p.Arg1805Leu)
c.5879G>T (p.Arg1960Leu)
c.5849G>T (p.Arg1950Leu)
c.5447G>T (p.Arg1816Leu)
c.4685G>T (p.Arg1562Leu)
c.3581G>T (p.Arg1194Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46411842A>CCA513174041PCNTn.114A>C
c.5802A>C (p.Arg1934=)
c.*5012A>C (n.*5012A>C)
c.5769A>C (p.Arg1923=)
n.6038A>C
c.5415A>C (p.Arg1805=)
c.5880A>C (p.Arg1960=)
c.5850A>C (p.Arg1950=)
c.5448A>C (p.Arg1816=)
c.4686A>C (p.Arg1562=)
c.3582A>C (p.Arg1194=)
21g.46411842A>GCA513174042PCNTn.114A>G
c.5802A>G (p.Arg1934=)
c.*5012A>G (n.*5012A>G)
c.5769A>G (p.Arg1923=)
n.6038A>G
c.5415A>G (p.Arg1805=)
c.5880A>G (p.Arg1960=)
c.5850A>G (p.Arg1950=)
c.5448A>G (p.Arg1816=)
c.4686A>G (p.Arg1562=)
c.3582A>G (p.Arg1194=)
21g.46411842A>TCA513174044PCNTn.114A>T
c.5802A>T (p.Arg1934=)
c.*5012A>T (n.*5012A>T)
c.5769A>T (p.Arg1923=)
n.6038A>T
c.5415A>T (p.Arg1805=)
c.5880A>T (p.Arg1960=)
c.5850A>T (p.Arg1950=)
c.5448A>T (p.Arg1816=)
c.4686A>T (p.Arg1562=)
c.3582A>T (p.Arg1194=)
21g.46411843G>ACA410556683PCNTn.115G>A
c.5803G>A (p.Ala1935Thr)
c.*5013G>A (n.*5013G>A)
c.5770G>A (p.Ala1924Thr)
n.6039G>A
c.5416G>A (p.Ala1806Thr)
c.5881G>A (p.Ala1961Thr)
c.5851G>A (p.Ala1951Thr)
c.5449G>A (p.Ala1817Thr)
c.4687G>A (p.Ala1563Thr)
c.3583G>A (p.Ala1195Thr)
 dbSNP gnomAD v3 gnomAD v4
21g.46411843G>CCA410556687PCNTn.115G>C
c.5803G>C (p.Ala1935Pro)
c.*5013G>C (n.*5013G>C)
c.5770G>C (p.Ala1924Pro)
n.6039G>C
c.5416G>C (p.Ala1806Pro)
c.5881G>C (p.Ala1961Pro)
c.5851G>C (p.Ala1951Pro)
c.5449G>C (p.Ala1817Pro)
c.4687G>C (p.Ala1563Pro)
c.3583G>C (p.Ala1195Pro)
21g.46411843G=CA2392665087PCNTn.115G=
c.5803G= (p.Ala1935=)
c.*5013G= (n.*5013G=)
c.5770G= (p.Ala1924=)
n.6039G=
c.5416G= (p.Ala1806=)
c.5881G= (p.Ala1961=)
c.5851G= (p.Ala1951=)
c.5449G= (p.Ala1817=)
c.4687G= (p.Ala1563=)
c.3583G= (p.Ala1195=)
21g.46411843G>TCA410556698PCNTn.115G>T
c.5803G>T (p.Ala1935Ser)
c.*5013G>T (n.*5013G>T)
c.5770G>T (p.Ala1924Ser)
n.6039G>T
c.5416G>T (p.Ala1806Ser)
c.5881G>T (p.Ala1961Ser)
c.5851G>T (p.Ala1951Ser)
c.5449G>T (p.Ala1817Ser)
c.4687G>T (p.Ala1563Ser)
c.3583G>T (p.Ala1195Ser)
21g.46411844C>ACA410556710PCNTn.116C>A
c.5804C>A (p.Ala1935Glu)
c.*5014C>A (n.*5014C>A)
c.5771C>A (p.Ala1924Glu)
n.6040C>A
c.5417C>A (p.Ala1806Glu)
c.5882C>A (p.Ala1961Glu)
c.5852C>A (p.Ala1951Glu)
c.5450C>A (p.Ala1817Glu)
c.4688C>A (p.Ala1563Glu)
c.3584C>A (p.Ala1195Glu)
 gnomAD v4
21g.46411844C=CA2392665088PCNTn.116C=
c.5804C= (p.Ala1935=)
c.*5014C= (n.*5014C=)
c.5771C= (p.Ala1924=)
n.6040C=
c.5417C= (p.Ala1806=)
c.5882C= (p.Ala1961=)
c.5852C= (p.Ala1951=)
c.5450C= (p.Ala1817=)
c.4688C= (p.Ala1563=)
c.3584C= (p.Ala1195=)
21g.46411844C>GCA410556712PCNTn.116C>G
c.5804C>G (p.Ala1935Gly)
c.*5014C>G (n.*5014C>G)
c.5771C>G (p.Ala1924Gly)
n.6040C>G
c.5417C>G (p.Ala1806Gly)
c.5882C>G (p.Ala1961Gly)
c.5852C>G (p.Ala1951Gly)
c.5450C>G (p.Ala1817Gly)
c.4688C>G (p.Ala1563Gly)
c.3584C>G (p.Ala1195Gly)
 gnomAD v4
21g.46411844C>TCA148447PCNTn.116C>T
c.5804C>T (p.Ala1935Val)
c.*5014C>T (n.*5014C>T)
c.5771C>T (p.Ala1924Val)
n.6040C>T
c.5417C>T (p.Ala1806Val)
c.5882C>T (p.Ala1961Val)
c.5852C>T (p.Ala1951Val)
c.5450C>T (p.Ala1817Val)
c.4688C>T (p.Ala1563Val)
c.3584C>T (p.Ala1195Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411845G>ACA10080087PCNTn.117G>A
c.5805G>A (p.Ala1935=)
c.*5015G>A (n.*5015G>A)
c.5772G>A (p.Ala1924=)
n.6041G>A
c.5418G>A (p.Ala1806=)
c.5883G>A (p.Ala1961=)
c.5853G>A (p.Ala1951=)
c.5451G>A (p.Ala1817=)
c.4689G>A (p.Ala1563=)
c.3585G>A (p.Ala1195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46411845G>CCA513174047PCNTn.117G>C
c.5805G>C (p.Ala1935=)
c.*5015G>C (n.*5015G>C)
c.5772G>C (p.Ala1924=)
n.6041G>C
c.5418G>C (p.Ala1806=)
c.5883G>C (p.Ala1961=)
c.5853G>C (p.Ala1951=)
c.5451G>C (p.Ala1817=)
c.4689G>C (p.Ala1563=)
c.3585G>C (p.Ala1195=)
21g.46411845G=CA2392665089PCNTn.117G=
c.5805G= (p.Ala1935=)
c.*5015G= (n.*5015G=)
c.5772G= (p.Ala1924=)
n.6041G=
c.5418G= (p.Ala1806=)
c.5883G= (p.Ala1961=)
c.5853G= (p.Ala1951=)
c.5451G= (p.Ala1817=)
c.4689G= (p.Ala1563=)
c.3585G= (p.Ala1195=)
21g.46411845G>TCA513174048PCNTn.117G>T
c.5805G>T (p.Ala1935=)
c.*5015G>T (n.*5015G>T)
c.5772G>T (p.Ala1924=)
n.6041G>T
c.5418G>T (p.Ala1806=)
c.5883G>T (p.Ala1961=)
c.5853G>T (p.Ala1951=)
c.5451G>T (p.Ala1817=)
c.4689G>T (p.Ala1563=)
c.3585G>T (p.Ala1195=)
 ClinVar gnomAD v4
21g.46411846C>ACA410556717PCNTn.118C>A
c.5806C>A (p.Gln1936Lys)
c.*5016C>A (n.*5016C>A)
c.5773C>A (p.Gln1925Lys)
n.6042C>A
c.5419C>A (p.Gln1807Lys)
c.5884C>A (p.Gln1962Lys)
c.5854C>A (p.Gln1952Lys)
c.5452C>A (p.Gln1818Lys)
c.4690C>A (p.Gln1564Lys)
c.3586C>A (p.Gln1196Lys)
 gnomAD v4
21g.46411846C=CA2392665090PCNTn.118C=
c.5806C= (p.Gln1936=)
c.*5016C= (n.*5016C=)
c.5773C= (p.Gln1925=)
n.6042C=
c.5419C= (p.Gln1807=)
c.5884C= (p.Gln1962=)
c.5854C= (p.Gln1952=)
c.5452C= (p.Gln1818=)
c.4690C= (p.Gln1564=)
c.3586C= (p.Gln1196=)
21g.46411846C>GCA410556720PCNTn.118C>G
c.5806C>G (p.Gln1936Glu)
c.*5016C>G (n.*5016C>G)
c.5773C>G (p.Gln1925Glu)
n.6042C>G
c.5419C>G (p.Gln1807Glu)
c.5884C>G (p.Gln1962Glu)
c.5854C>G (p.Gln1952Glu)
c.5452C>G (p.Gln1818Glu)
c.4690C>G (p.Gln1564Glu)
c.3586C>G (p.Gln1196Glu)
 dbSNP gnomAD v2 gnomAD v4
21g.46411846C>TCA410556727PCNTn.118C>T
c.5806C>T (p.Gln1936Ter)
c.*5016C>T (n.*5016C>T)
c.5773C>T (p.Gln1925Ter)
n.6042C>T
c.5419C>T (p.Gln1807Ter)
c.5884C>T (p.Gln1962Ter)
c.5854C>T (p.Gln1952Ter)
c.5452C>T (p.Gln1818Ter)
c.4690C>T (p.Gln1564Ter)
c.3586C>T (p.Gln1196Ter)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched