Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186288520G>ACA3164123F11,F11-AS1c.1784G>A (p.Trp595Ter)
c.384G>A
c.1622G>A (p.Trp541Ter)
n.303G>A
n.974C>T
c.1787G>A (p.Trp596Ter)
c.1691G>A (p.Trp564Ter)
c.1517G>A (p.Trp506Ter)
c.1739G>A (p.Trp580Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288520G>CCA358946088F11,F11-AS1c.1784G>C (p.Trp595Ser)
c.384G>C
c.1622G>C (p.Trp541Ser)
n.303G>C
n.974C>G
c.1787G>C (p.Trp596Ser)
c.1691G>C (p.Trp564Ser)
c.1517G>C (p.Trp506Ser)
c.1739G>C (p.Trp580Ser)
4g.186288520G=CA1519939832F11,F11-AS1c.1784G= (p.Trp595=)
c.384G=
c.1622G= (p.Trp541=)
n.303G=
n.974C=
c.1787G= (p.Trp596=)
c.1691G= (p.Trp564=)
c.1517G= (p.Trp506=)
c.1739G= (p.Trp580=)
4g.186288520G>TCA358946090F11,F11-AS1c.1784G>T (p.Trp595Leu)
c.384G>T
c.1622G>T (p.Trp541Leu)
n.303G>T
n.974C>A
c.1787G>T (p.Trp596Leu)
c.1691G>T (p.Trp564Leu)
c.1517G>T (p.Trp506Leu)
c.1739G>T (p.Trp580Leu)
 dbSNP gnomAD v2 gnomAD v4
4g.186288521G>ACA358946097F11,F11-AS1c.1785G>A (p.Trp595Ter)
c.385G>A
c.1623G>A (p.Trp541Ter)
n.304G>A
n.973C>T
c.1788G>A (p.Trp596Ter)
c.1692G>A (p.Trp564Ter)
c.1518G>A (p.Trp506Ter)
c.1740G>A (p.Trp580Ter)
4g.186288521G>CCA358946095F11,F11-AS1c.1785G>C (p.Trp595Cys)
c.385G>C
c.1623G>C (p.Trp541Cys)
n.304G>C
n.973C>G
c.1788G>C (p.Trp596Cys)
c.1692G>C (p.Trp564Cys)
c.1518G>C (p.Trp506Cys)
c.1740G>C (p.Trp580Cys)
4g.186288521G>TCA358946093F11,F11-AS1c.1785G>T (p.Trp595Cys)
c.385G>T
c.1623G>T (p.Trp541Cys)
n.304G>T
n.973C>A
c.1788G>T (p.Trp596Cys)
c.1692G>T (p.Trp564Cys)
c.1518G>T (p.Trp506Cys)
c.1740G>T (p.Trp580Cys)
4g.186288521_186288527delinsGGGCGAACA1519939833F11,F11-AS1c.1785_1791delinsGGGCGAA (p.Trp595=)
c.385_391delinsGGGCGAA
c.1623_1629delinsGGGCGAA (p.Trp541=)
n.304_310delinsGGGCGAA
n.967_973delinsTTCGCCC
c.1788_1794delinsGGGCGAA (p.Trp596=)
c.1692_1698delinsGGGCGAA (p.Trp564=)
c.1518_1524delinsGGGCGAA (p.Trp506=)
c.1740_1746delinsGGGCGAA (p.Trp580=)
4g.186288522G>ACA358946099F11,F11-AS1c.1786G>A (p.Gly596Ser)
c.386G>A
c.1624G>A (p.Gly542Ser)
n.305G>A
n.972C>T
c.1789G>A (p.Gly597Ser)
c.1693G>A (p.Gly565Ser)
c.1519G>A (p.Gly507Ser)
c.1741G>A (p.Gly581Ser)
4g.186288522G>CCA358946101F11,F11-AS1c.1786G>C (p.Gly596Arg)
c.386G>C
c.1624G>C (p.Gly542Arg)
n.305G>C
n.972C>G
c.1789G>C (p.Gly597Arg)
c.1693G>C (p.Gly565Arg)
c.1519G>C (p.Gly507Arg)
c.1741G>C (p.Gly581Arg)
4g.186288522G=CA1519939834F11,F11-AS1c.1786G= (p.Gly596=)
c.386G=
c.1624G= (p.Gly542=)
n.305G=
n.972C=
c.1789G= (p.Gly597=)
c.1693G= (p.Gly565=)
c.1519G= (p.Gly507=)
c.1741G= (p.Gly581=)
4g.186288522G>TCA358946102F11,F11-AS1c.1786G>T (p.Gly596Cys)
c.386G>T
c.1624G>T (p.Gly542Cys)
n.305G>T
n.972C>A
c.1789G>T (p.Gly597Cys)
c.1693G>T (p.Gly565Cys)
c.1519G>T (p.Gly507Cys)
c.1741G>T (p.Gly581Cys)
 dbSNP
4g.186288523_186288525dupCA2672904153F11,F11-AS1c.1787_1789dup (p.Gly596_Glu597insGly)
c.387_389dup
c.1625_1627dup (p.Gly542_Glu543insGly)
n.306_308dup
n.970_972dup
c.1790_1792dup (p.Gly597_Glu598insGly)
c.1694_1696dup (p.Gly565_Glu566insGly)
c.1520_1522dup (p.Gly507_Glu508insGly)
c.1742_1744dup (p.Gly581_Glu582insGly)
 gnomAD v4
4g.186288525_186288530delCA1071927986F11,F11-AS1c.1789_1794del (p.Glu597_Gly598del)
c.389_394del
c.1627_1632del (p.Glu543_Gly544del)
n.308_313del
n.967_972del
c.1792_1797del (p.Glu598_Gly599del)
c.1696_1701del (p.Glu566_Gly567del)
c.1522_1527del (p.Glu508_Gly509del)
c.1744_1749del (p.Glu582_Gly583del)
 dbSNP gnomAD v3 gnomAD v4
4g.186288523G>ACA3164124F11,F11-AS1c.1787G>A (p.Gly596Asp)
c.387G>A
c.1625G>A (p.Gly542Asp)
n.306G>A
n.971C>T
c.1790G>A (p.Gly597Asp)
c.1694G>A (p.Gly565Asp)
c.1520G>A (p.Gly507Asp)
c.1742G>A (p.Gly581Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288523G>CCA358946106F11,F11-AS1c.1787G>C (p.Gly596Ala)
c.387G>C
c.1625G>C (p.Gly542Ala)
n.306G>C
n.971C>G
c.1790G>C (p.Gly597Ala)
c.1694G>C (p.Gly565Ala)
c.1520G>C (p.Gly507Ala)
c.1742G>C (p.Gly581Ala)
4g.186288523G=CA1519939835F11,F11-AS1c.1787G= (p.Gly596=)
c.387G=
c.1625G= (p.Gly542=)
n.306G=
n.971C=
c.1790G= (p.Gly597=)
c.1694G= (p.Gly565=)
c.1520G= (p.Gly507=)
c.1742G= (p.Gly581=)
4g.186288523G>TCA358946107F11,F11-AS1c.1787G>T (p.Gly596Val)
c.387G>T
c.1625G>T (p.Gly542Val)
n.306G>T
n.971C>A
c.1790G>T (p.Gly597Val)
c.1694G>T (p.Gly565Val)
c.1520G>T (p.Gly507Val)
c.1742G>T (p.Gly581Val)
4g.186288524C>ACA442641378F11,F11-AS1c.1788C>A (p.Gly596=)
c.388C>A
c.1626C>A (p.Gly542=)
n.307C>A
n.970G>T
c.1791C>A (p.Gly597=)
c.1695C>A (p.Gly565=)
c.1521C>A (p.Gly507=)
c.1743C>A (p.Gly581=)
 ClinVar
4g.186288524C=CA1519939836F11,F11-AS1c.1788C= (p.Gly596=)
c.388C=
c.1626C= (p.Gly542=)
n.307C=
n.970G=
c.1791C= (p.Gly597=)
c.1695C= (p.Gly565=)
c.1521C= (p.Gly507=)
c.1743C= (p.Gly581=)
4g.186288524C>GCA442641379F11,F11-AS1c.1788C>G (p.Gly596=)
c.388C>G
c.1626C>G (p.Gly542=)
n.307C>G
n.970G>C
c.1791C>G (p.Gly597=)
c.1695C>G (p.Gly565=)
c.1521C>G (p.Gly507=)
c.1743C>G (p.Gly581=)
4g.186288524C>TCA442641380F11,F11-AS1c.1788C>T (p.Gly596=)
c.388C>T
c.1626C>T (p.Gly542=)
n.307C>T
n.970G>A
c.1791C>T (p.Gly597=)
c.1695C>T (p.Gly565=)
c.1521C>T (p.Gly507=)
c.1743C>T (p.Gly581=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.186288524dupCA2708194158F11,F11-AS1c.1788dup (p.Glu597ArgfsTer?)
c.388dup
c.1626dup (p.Glu543ArgfsTer?)
n.307dup
n.970dup
c.1791dup (p.Glu598ArgfsTer?)
c.1695dup (p.Glu566ArgfsTer?)
c.1521dup (p.Glu508ArgfsTer?)
c.1743dup (p.Glu582ArgfsTer?)
 dbSNP
4g.186288525G>ACA219130F11,F11-AS1c.1789G>A (p.Glu597Lys)
c.389G>A
c.1627G>A (p.Glu543Lys)
n.308G>A
n.969C>T
c.1792G>A (p.Glu598Lys)
c.1696G>A (p.Glu566Lys)
c.1522G>A (p.Glu508Lys)
c.1744G>A (p.Glu582Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288525G>CCA358946110F11,F11-AS1c.1789G>C (p.Glu597Gln)
c.389G>C
c.1627G>C (p.Glu543Gln)
n.308G>C
n.969C>G
c.1792G>C (p.Glu598Gln)
c.1696G>C (p.Glu566Gln)
c.1522G>C (p.Glu508Gln)
c.1744G>C (p.Glu582Gln)
4g.186288525G=CA1519939837F11,F11-AS1c.1789G= (p.Glu597=)
c.389G=
c.1627G= (p.Glu543=)
n.308G=
n.969C=
c.1792G= (p.Glu598=)
c.1696G= (p.Glu566=)
c.1522G= (p.Glu508=)
c.1744G= (p.Glu582=)
4g.186288525G>TCA16040952F11,F11-AS1c.1789G>T (p.Glu597Ter)
c.389G>T
c.1627G>T (p.Glu543Ter)
n.308G>T
n.969C>A
c.1792G>T (p.Glu598Ter)
c.1696G>T (p.Glu566Ter)
c.1522G>T (p.Glu508Ter)
c.1744G>T (p.Glu582Ter)
 ClinVar dbSNP gnomAD v4
4g.186288526A>CCA358946114F11,F11-AS1c.1790A>C (p.Glu597Ala)
c.390A>C
c.1628A>C (p.Glu543Ala)
n.309A>C
n.968T>G
c.1793A>C (p.Glu598Ala)
c.1697A>C (p.Glu566Ala)
c.1523A>C (p.Glu508Ala)
c.1745A>C (p.Glu582Ala)
4g.186288526A>GCA358946116F11,F11-AS1c.1790A>G (p.Glu597Gly)
c.390A>G
c.1628A>G (p.Glu543Gly)
n.309A>G
n.968T>C
c.1793A>G (p.Glu598Gly)
c.1697A>G (p.Glu566Gly)
c.1523A>G (p.Glu508Gly)
c.1745A>G (p.Glu582Gly)
4g.186288526A>TCA358946118F11,F11-AS1c.1790A>T (p.Glu597Val)
c.390A>T
c.1628A>T (p.Glu543Val)
n.309A>T
n.968T>A
c.1793A>T (p.Glu598Val)
c.1697A>T (p.Glu566Val)
c.1523A>T (p.Glu508Val)
c.1745A>T (p.Glu582Val)
4g.186288527A>CCA358946120F11,F11-AS1c.1791A>C (p.Glu597Asp)
c.391A>C
c.1629A>C (p.Glu543Asp)
n.310A>C
n.967T>G
c.1794A>C (p.Glu598Asp)
c.1698A>C (p.Glu566Asp)
c.1524A>C (p.Glu508Asp)
c.1746A>C (p.Glu582Asp)
4g.186288527A>GCA442641381F11,F11-AS1c.1791A>G (p.Glu597=)
c.391A>G
c.1629A>G (p.Glu543=)
n.310A>G
n.967T>C
c.1794A>G (p.Glu598=)
c.1698A>G (p.Glu566=)
c.1524A>G (p.Glu508=)
c.1746A>G (p.Glu582=)
 COSMIC COSMIC
4g.186288527A>TCA358946122F11,F11-AS1c.1791A>T (p.Glu597Asp)
c.391A>T
c.1629A>T (p.Glu543Asp)
n.310A>T
n.967T>A
c.1794A>T (p.Glu598Asp)
c.1698A>T (p.Glu566Asp)
c.1524A>T (p.Glu508Asp)
c.1746A>T (p.Glu582Asp)
4g.186288528G>ACA358946128F11,F11-AS1c.1792G>A (p.Gly598Ser)
c.392G>A
c.1630G>A (p.Gly544Ser)
n.311G>A
n.966C>T
c.1795G>A (p.Gly599Ser)
c.1699G>A (p.Gly567Ser)
c.1525G>A (p.Gly509Ser)
c.1747G>A (p.Gly583Ser)
4g.186288528G>CCA358946124F11,F11-AS1c.1792G>C (p.Gly598Arg)
c.392G>C
c.1630G>C (p.Gly544Arg)
n.311G>C
n.966C>G
c.1795G>C (p.Gly599Arg)
c.1699G>C (p.Gly567Arg)
c.1525G>C (p.Gly509Arg)
c.1747G>C (p.Gly583Arg)
4g.186288528G>TCA358946126F11,F11-AS1c.1792G>T (p.Gly598Cys)
c.392G>T
c.1630G>T (p.Gly544Cys)
n.311G>T
n.966C>A
c.1795G>T (p.Gly599Cys)
c.1699G>T (p.Gly567Cys)
c.1525G>T (p.Gly509Cys)
c.1747G>T (p.Gly583Cys)
4g.186288529G>ACA358946131F11,F11-AS1c.1793G>A (p.Gly598Asp)
c.393G>A
c.1631G>A (p.Gly544Asp)
n.312G>A
n.965C>T
c.1796G>A (p.Gly599Asp)
c.1700G>A (p.Gly567Asp)
c.1526G>A (p.Gly509Asp)
c.1748G>A (p.Gly583Asp)
4g.186288529G>CCA358946132F11,F11-AS1c.1793G>C (p.Gly598Ala)
c.393G>C
c.1631G>C (p.Gly544Ala)
n.312G>C
n.965C>G
c.1796G>C (p.Gly599Ala)
c.1700G>C (p.Gly567Ala)
c.1526G>C (p.Gly509Ala)
c.1748G>C (p.Gly583Ala)
4g.186288529G>TCA358946134F11,F11-AS1c.1793G>T (p.Gly598Val)
c.393G>T
c.1631G>T (p.Gly544Val)
n.312G>T
n.965C>A
c.1796G>T (p.Gly599Val)
c.1700G>T (p.Gly567Val)
c.1526G>T (p.Gly509Val)
c.1748G>T (p.Gly583Val)
4g.186288530C>ACA442641382F11,F11-AS1c.1794C>A (p.Gly598=)
c.394C>A
c.1632C>A (p.Gly544=)
n.313C>A
n.964G>T
c.1797C>A (p.Gly599=)
c.1701C>A (p.Gly567=)
c.1527C>A (p.Gly509=)
c.1749C>A (p.Gly583=)
4g.186288530C=CA1519939838F11,F11-AS1c.1794C= (p.Gly598=)
c.394C=
c.1632C= (p.Gly544=)
n.313C=
n.964G=
c.1797C= (p.Gly599=)
c.1701C= (p.Gly567=)
c.1527C= (p.Gly509=)
c.1749C= (p.Gly583=)
4g.186288530C>GCA442641383F11,F11-AS1c.1794C>G (p.Gly598=)
c.394C>G
c.1632C>G (p.Gly544=)
n.313C>G
n.964G>C
c.1797C>G (p.Gly599=)
c.1701C>G (p.Gly567=)
c.1527C>G (p.Gly509=)
c.1749C>G (p.Gly583=)
4g.186288530C>TCA3164125F11,F11-AS1c.1794C>T (p.Gly598=)
c.394C>T
c.1632C>T (p.Gly544=)
n.313C>T
n.964G>A
c.1797C>T (p.Gly599=)
c.1701C>T (p.Gly567=)
c.1527C>T (p.Gly509=)
c.1749C>T (p.Gly583=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288531T>ACA358946138F11,F11-AS1c.1795T>A (p.Cys599Ser)
c.395T>A
c.1633T>A (p.Cys545Ser)
n.314T>A
n.963A>T
c.1798T>A (p.Cys600Ser)
c.1702T>A (p.Cys568Ser)
c.1528T>A (p.Cys510Ser)
c.1750T>A (p.Cys584Ser)
4g.186288531T>CCA358946141F11,F11-AS1c.1795T>C (p.Cys599Arg)
c.395T>C
c.1633T>C (p.Cys545Arg)
n.314T>C
n.963A>G
c.1798T>C (p.Cys600Arg)
c.1702T>C (p.Cys568Arg)
c.1528T>C (p.Cys510Arg)
c.1750T>C (p.Cys584Arg)
4g.186288531T>GCA358946142F11,F11-AS1c.1795T>G (p.Cys599Gly)
c.395T>G
c.1633T>G (p.Cys545Gly)
n.314T>G
n.963A>C
c.1798T>G (p.Cys600Gly)
c.1702T>G (p.Cys568Gly)
c.1528T>G (p.Cys510Gly)
c.1750T>G (p.Cys584Gly)
4g.186288532G>ACA358946145F11,F11-AS1c.1796G>A (p.Cys599Tyr)
c.396G>A
c.1634G>A (p.Cys545Tyr)
n.315G>A
n.962C>T
c.1799G>A (p.Cys600Tyr)
c.1703G>A (p.Cys568Tyr)
c.1529G>A (p.Cys510Tyr)
c.1751G>A (p.Cys584Tyr)
4g.186288532G>CCA358946147F11,F11-AS1c.1796G>C (p.Cys599Ser)
c.396G>C
c.1634G>C (p.Cys545Ser)
n.315G>C
n.962C>G
c.1799G>C (p.Cys600Ser)
c.1703G>C (p.Cys568Ser)
c.1529G>C (p.Cys510Ser)
c.1751G>C (p.Cys584Ser)
4g.186288532G=CA1519939839F11,F11-AS1c.1796G= (p.Cys599=)
c.396G=
c.1634G= (p.Cys545=)
n.315G=
n.962C=
c.1799G= (p.Cys600=)
c.1703G= (p.Cys568=)
c.1529G= (p.Cys510=)
c.1751G= (p.Cys584=)
4g.186288532G>TCA358946149F11,F11-AS1c.1796G>T (p.Cys599Phe)
c.396G>T
c.1634G>T (p.Cys545Phe)
n.315G>T
n.962C>A
c.1799G>T (p.Cys600Phe)
c.1703G>T (p.Cys568Phe)
c.1529G>T (p.Cys510Phe)
c.1751G>T (p.Cys584Phe)
 dbSNP
4g.186288533T>ACA358946152F11,F11-AS1c.1797T>A (p.Cys599Ter)
c.397T>A
c.1635T>A (p.Cys545Ter)
n.316T>A
n.961A>T
c.1800T>A (p.Cys600Ter)
c.1704T>A (p.Cys568Ter)
c.1530T>A (p.Cys510Ter)
c.1752T>A (p.Cys584Ter)
4g.186288533T>CCA442641384F11,F11-AS1c.1797T>C (p.Cys599=)
c.397T>C
c.1635T>C (p.Cys545=)
n.316T>C
n.961A>G
c.1800T>C (p.Cys600=)
c.1704T>C (p.Cys568=)
c.1530T>C (p.Cys510=)
c.1752T>C (p.Cys584=)
 dbSNP gnomAD v2 gnomAD v4
4g.186288533T>GCA358946153F11,F11-AS1c.1797T>G (p.Cys599Trp)
c.397T>G
c.1635T>G (p.Cys545Trp)
n.316T>G
n.961A>C
c.1800T>G (p.Cys600Trp)
c.1704T>G (p.Cys568Trp)
c.1530T>G (p.Cys510Trp)
c.1752T>G (p.Cys584Trp)
4g.186288533T=CA1519939840F11,F11-AS1c.1797T= (p.Cys599=)
c.397T=
c.1635T= (p.Cys545=)
n.316T=
n.961A=
c.1800T= (p.Cys600=)
c.1704T= (p.Cys568=)
c.1530T= (p.Cys510=)
c.1752T= (p.Cys584=)
4g.186288534G>ACA3164126F11,F11-AS1c.1798G>A (p.Ala600Thr)
c.398G>A
c.1636G>A (p.Ala546Thr)
n.317G>A
n.960C>T
c.1801G>A (p.Ala601Thr)
c.1705G>A (p.Ala569Thr)
c.1531G>A (p.Ala511Thr)
c.1753G>A (p.Ala585Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288534G>CCA358946158F11,F11-AS1c.1798G>C (p.Ala600Pro)
c.398G>C
c.1636G>C (p.Ala546Pro)
n.317G>C
n.960C>G
c.1801G>C (p.Ala601Pro)
c.1705G>C (p.Ala569Pro)
c.1531G>C (p.Ala511Pro)
c.1753G>C (p.Ala585Pro)
4g.186288534G=CA1519939841F11,F11-AS1c.1798G= (p.Ala600=)
c.398G=
c.1636G= (p.Ala546=)
n.317G=
n.960C=
c.1801G= (p.Ala601=)
c.1705G= (p.Ala569=)
c.1531G= (p.Ala511=)
c.1753G= (p.Ala585=)
4g.186288534G>TCA358946157F11,F11-AS1c.1798G>T (p.Ala600Ser)
c.398G>T
c.1636G>T (p.Ala546Ser)
n.317G>T
n.960C>A
c.1801G>T (p.Ala601Ser)
c.1705G>T (p.Ala569Ser)
c.1531G>T (p.Ala511Ser)
c.1753G>T (p.Ala585Ser)
4g.186288535C>ACA358946161F11,F11-AS1c.1799C>A (p.Ala600Asp)
c.399C>A
c.1637C>A (p.Ala546Asp)
n.318C>A
n.959G>T
c.1802C>A (p.Ala601Asp)
c.1706C>A (p.Ala569Asp)
c.1532C>A (p.Ala511Asp)
c.1754C>A (p.Ala585Asp)
4g.186288535C>GCA358946163F11,F11-AS1c.1799C>G (p.Ala600Gly)
c.399C>G
c.1637C>G (p.Ala546Gly)
n.318C>G
n.959G>C
c.1802C>G (p.Ala601Gly)
c.1706C>G (p.Ala569Gly)
c.1532C>G (p.Ala511Gly)
c.1754C>G (p.Ala585Gly)
4g.186288535C>TCA358946169F11,F11-AS1c.1799C>T (p.Ala600Val)
c.399C>T
c.1637C>T (p.Ala546Val)
n.318C>T
n.959G>A
c.1802C>T (p.Ala601Val)
c.1706C>T (p.Ala569Val)
c.1532C>T (p.Ala511Val)
c.1754C>T (p.Ala585Val)
4g.186288536T>ACA442641385F11,F11-AS1c.1800T>A (p.Ala600=)
c.400T>A
c.1638T>A (p.Ala546=)
n.319T>A
n.958A>T
c.1803T>A (p.Ala601=)
c.1707T>A (p.Ala569=)
c.1533T>A (p.Ala511=)
c.1755T>A (p.Ala585=)
4g.186288536T>CCA442641386F11,F11-AS1c.1800T>C (p.Ala600=)
c.400T>C
c.1638T>C (p.Ala546=)
n.319T>C
n.958A>G
c.1803T>C (p.Ala601=)
c.1707T>C (p.Ala569=)
c.1533T>C (p.Ala511=)
c.1755T>C (p.Ala585=)
4g.186288536T>GCA442641387F11,F11-AS1c.1800T>G (p.Ala600=)
c.400T>G
c.1638T>G (p.Ala546=)
n.319T>G
n.958A>C
c.1803T>G (p.Ala601=)
c.1707T>G (p.Ala569=)
c.1533T>G (p.Ala511=)
c.1755T>G (p.Ala585=)
4g.186288537C>ACA358946170F11,F11-AS1c.1801C>A (p.Gln601Lys)
c.401C>A
c.1639C>A (p.Gln547Lys)
n.320C>A
n.957G>T
c.1804C>A (p.Gln602Lys)
c.1708C>A (p.Gln570Lys)
c.1534C>A (p.Gln512Lys)
c.1756C>A (p.Gln586Lys)
4g.186288537C>GCA358946172F11,F11-AS1c.1801C>G (p.Gln601Glu)
c.401C>G
c.1639C>G (p.Gln547Glu)
n.320C>G
n.957G>C
c.1804C>G (p.Gln602Glu)
c.1708C>G (p.Gln570Glu)
c.1534C>G (p.Gln512Glu)
c.1756C>G (p.Gln586Glu)
4g.186288537C>TCA358946174F11,F11-AS1c.1801C>T (p.Gln601Ter)
c.401C>T
c.1639C>T (p.Gln547Ter)
n.320C>T
n.957G>A
c.1804C>T (p.Gln602Ter)
c.1708C>T (p.Gln570Ter)
c.1534C>T (p.Gln512Ter)
c.1756C>T (p.Gln586Ter)
4g.186288538A>CCA358946176F11,F11-AS1c.1802A>C (p.Gln601Pro)
c.402A>C
c.1640A>C (p.Gln547Pro)
n.321A>C
n.956T>G
c.1805A>C (p.Gln602Pro)
c.1709A>C (p.Gln570Pro)
c.1535A>C (p.Gln512Pro)
c.1757A>C (p.Gln586Pro)
4g.186288538A>GCA358946178F11,F11-AS1c.1802A>G (p.Gln601Arg)
c.402A>G
c.1640A>G (p.Gln547Arg)
n.321A>G
n.956T>C
c.1805A>G (p.Gln602Arg)
c.1709A>G (p.Gln570Arg)
c.1535A>G (p.Gln512Arg)
c.1757A>G (p.Gln586Arg)
4g.186288538A>TCA358946180F11,F11-AS1c.1802A>T (p.Gln601Leu)
c.402A>T
c.1640A>T (p.Gln547Leu)
n.321A>T
n.956T>A
c.1805A>T (p.Gln602Leu)
c.1709A>T (p.Gln570Leu)
c.1535A>T (p.Gln512Leu)
c.1757A>T (p.Gln586Leu)
4g.186288539A>CCA358946182F11,F11-AS1c.1803A>C (p.Gln601His)
c.403A>C
c.1641A>C (p.Gln547His)
n.322A>C
n.955T>G
c.1806A>C (p.Gln602His)
c.1710A>C (p.Gln570His)
c.1536A>C (p.Gln512His)
c.1758A>C (p.Gln586His)
4g.186288539A>GCA442641388F11,F11-AS1c.1803A>G (p.Gln601=)
c.403A>G
c.1641A>G (p.Gln547=)
n.322A>G
n.955T>C
c.1806A>G (p.Gln602=)
c.1710A>G (p.Gln570=)
c.1536A>G (p.Gln512=)
c.1758A>G (p.Gln586=)
4g.186288539A>TCA358946183F11,F11-AS1c.1803A>T (p.Gln601His)
c.403A>T
c.1641A>T (p.Gln547His)
n.322A>T
n.955T>A
c.1806A>T (p.Gln602His)
c.1710A>T (p.Gln570His)
c.1536A>T (p.Gln512His)
c.1758A>T (p.Gln586His)
4g.186288540A>CCA442641389F11,F11-AS1c.1804A>C (p.Arg602=)
c.404A>C
c.1642A>C (p.Arg548=)
n.323A>C
n.954T>G
c.1807A>C (p.Arg603=)
c.1711A>C (p.Arg571=)
c.1537A>C (p.Arg513=)
c.1759A>C (p.Arg587=)
4g.186288540A>GCA358946185F11,F11-AS1c.1804A>G (p.Arg602Gly)
c.404A>G
c.1642A>G (p.Arg548Gly)
n.323A>G
n.954T>C
c.1807A>G (p.Arg603Gly)
c.1711A>G (p.Arg571Gly)
c.1537A>G (p.Arg513Gly)
c.1759A>G (p.Arg587Gly)
4g.186288540A>TCA358946187F11,F11-AS1c.1804A>T (p.Arg602Trp)
c.404A>T
c.1642A>T (p.Arg548Trp)
n.323A>T
n.954T>A
c.1807A>T (p.Arg603Trp)
c.1711A>T (p.Arg571Trp)
c.1537A>T (p.Arg513Trp)
c.1759A>T (p.Arg587Trp)
4g.186288541G>ACA358946189F11,F11-AS1c.1805G>A (p.Arg602Lys)
c.405G>A
c.1643G>A (p.Arg548Lys)
n.324G>A
n.953C>T
c.1808G>A (p.Arg603Lys)
c.1712G>A (p.Arg571Lys)
c.1538G>A (p.Arg513Lys)
c.1760G>A (p.Arg587Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186288541G>CCA358946193F11,F11-AS1c.1805G>C (p.Arg602Thr)
c.405G>C
c.1643G>C (p.Arg548Thr)
n.324G>C
n.953C>G
c.1808G>C (p.Arg603Thr)
c.1712G>C (p.Arg571Thr)
c.1538G>C (p.Arg513Thr)
c.1760G>C (p.Arg587Thr)
 gnomAD v4
4g.186288541G=CA1519939842F11,F11-AS1c.1805G= (p.Arg602=)
c.405G=
c.1643G= (p.Arg548=)
n.324G=
n.953C=
c.1808G= (p.Arg603=)
c.1712G= (p.Arg571=)
c.1538G= (p.Arg513=)
c.1760G= (p.Arg587=)
4g.186288541G>TCA358946191F11,F11-AS1c.1805G>T (p.Arg602Met)
c.405G>T
c.1643G>T (p.Arg548Met)
n.324G>T
n.953C>A
c.1808G>T (p.Arg603Met)
c.1712G>T (p.Arg571Met)
c.1538G>T (p.Arg513Met)
c.1760G>T (p.Arg587Met)
4g.186288542G>ACA3164127F11,F11-AS1c.1806G>A (p.Arg602=)
c.406G>A
c.1644G>A (p.Arg548=)
n.325G>A
n.952C>T
c.1809G>A (p.Arg603=)
c.1713G>A (p.Arg571=)
c.1539G>A (p.Arg513=)
c.1761G>A (p.Arg587=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288542G>CCA358946196F11,F11-AS1c.1806G>C (p.Arg602Ser)
c.406G>C
c.1644G>C (p.Arg548Ser)
n.325G>C
n.952C>G
c.1809G>C (p.Arg603Ser)
c.1713G>C (p.Arg571Ser)
c.1539G>C (p.Arg513Ser)
c.1761G>C (p.Arg587Ser)
4g.186288542G=CA1519939843F11,F11-AS1c.1806G= (p.Arg602=)
c.406G=
c.1644G= (p.Arg548=)
n.325G=
n.952C=
c.1809G= (p.Arg603=)
c.1713G= (p.Arg571=)
c.1539G= (p.Arg513=)
c.1761G= (p.Arg587=)
4g.186288542G>TCA358946197F11,F11-AS1c.1806G>T (p.Arg602Ser)
c.406G>T
c.1644G>T (p.Arg548Ser)
n.325G>T
n.952C>A
c.1809G>T (p.Arg603Ser)
c.1713G>T (p.Arg571Ser)
c.1539G>T (p.Arg513Ser)
c.1761G>T (p.Arg587Ser)
4g.186288543G>ACA112106270F11,F11-AS1c.1807G>A (p.Glu603Lys)
c.407G>A
c.1645G>A (p.Glu549Lys)
n.326G>A
n.951C>T
c.1810G>A (p.Glu604Lys)
c.1714G>A (p.Glu572Lys)
c.1540G>A (p.Glu514Lys)
c.1762G>A (p.Glu588Lys)
 dbSNP
4g.186288543G>CCA358946200F11,F11-AS1c.1807G>C (p.Glu603Gln)
c.407G>C
c.1645G>C (p.Glu549Gln)
n.326G>C
n.951C>G
c.1810G>C (p.Glu604Gln)
c.1714G>C (p.Glu572Gln)
c.1540G>C (p.Glu514Gln)
c.1762G>C (p.Glu588Gln)
4g.186288543G=CA1519939844F11,F11-AS1c.1807G= (p.Glu603=)
c.407G=
c.1645G= (p.Glu549=)
n.326G=
n.951C=
c.1810G= (p.Glu604=)
c.1714G= (p.Glu572=)
c.1540G= (p.Glu514=)
c.1762G= (p.Glu588=)
4g.186288543G>TCA358946201F11,F11-AS1c.1807G>T (p.Glu603Ter)
c.407G>T
c.1645G>T (p.Glu549Ter)
n.326G>T
n.951C>A
c.1810G>T (p.Glu604Ter)
c.1714G>T (p.Glu572Ter)
c.1540G>T (p.Glu514Ter)
c.1762G>T (p.Glu588Ter)
4g.186288544A>CCA358946202F11,F11-AS1c.1808A>C (p.Glu603Ala)
c.408A>C
c.1646A>C (p.Glu549Ala)
n.327A>C
n.950T>G
c.1811A>C (p.Glu604Ala)
c.1715A>C (p.Glu572Ala)
c.1541A>C (p.Glu514Ala)
c.1763A>C (p.Glu588Ala)
4g.186288544A>GCA358946203F11,F11-AS1c.1808A>G (p.Glu603Gly)
c.408A>G
c.1646A>G (p.Glu549Gly)
n.327A>G
n.950T>C
c.1811A>G (p.Glu604Gly)
c.1715A>G (p.Glu572Gly)
c.1541A>G (p.Glu514Gly)
c.1763A>G (p.Glu588Gly)
4g.186288544A>TCA358946204F11,F11-AS1c.1808A>T (p.Glu603Val)
c.408A>T
c.1646A>T (p.Glu549Val)
n.327A>T
n.950T>A
c.1811A>T (p.Glu604Val)
c.1715A>T (p.Glu572Val)
c.1541A>T (p.Glu514Val)
c.1763A>T (p.Glu588Val)
4g.186288545G>ACA442641390F11,F11-AS1c.1809G>A (p.Glu603=)
c.409G>A
c.1647G>A (p.Glu549=)
n.328G>A
n.949C>T
c.1812G>A (p.Glu604=)
c.1716G>A (p.Glu572=)
c.1542G>A (p.Glu514=)
c.1764G>A (p.Glu588=)
4g.186288545G>CCA358946205F11,F11-AS1c.1809G>C (p.Glu603Asp)
c.409G>C
c.1647G>C (p.Glu549Asp)
n.328G>C
n.949C>G
c.1812G>C (p.Glu604Asp)
c.1716G>C (p.Glu572Asp)
c.1542G>C (p.Glu514Asp)
c.1764G>C (p.Glu588Asp)
4g.186288545G>TCA358946206F11,F11-AS1c.1809G>T (p.Glu603Asp)
c.409G>T
c.1647G>T (p.Glu549Asp)
n.328G>T
n.949C>A
c.1812G>T (p.Glu604Asp)
c.1716G>T (p.Glu572Asp)
c.1542G>T (p.Glu514Asp)
c.1764G>T (p.Glu588Asp)
4g.186288546C>ACA3164128F11,F11-AS1c.1810C>A (p.Arg604=)
c.410C>A
c.1648C>A (p.Arg550=)
n.329C>A
n.948G>T
c.1813C>A (p.Arg605=)
c.1717C>A (p.Arg573=)
c.1543C>A (p.Arg515=)
c.1765C>A (p.Arg589=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288546C=CA1519939845F11,F11-AS1c.1810C= (p.Arg604=)
c.410C=
c.1648C= (p.Arg550=)
n.329C=
n.948G=
c.1813C= (p.Arg605=)
c.1717C= (p.Arg573=)
c.1543C= (p.Arg515=)
c.1765C= (p.Arg589=)
4g.186288546C>GCA358946207F11,F11-AS1c.1810C>G (p.Arg604Gly)
c.410C>G
c.1648C>G (p.Arg550Gly)
n.329C>G
n.948G>C
c.1813C>G (p.Arg605Gly)
c.1717C>G (p.Arg573Gly)
c.1543C>G (p.Arg515Gly)
c.1765C>G (p.Arg589Gly)
4g.186288546C>TCA3164129F11,F11-AS1c.1810C>T (p.Arg604Trp)
c.410C>T
c.1648C>T (p.Arg550Trp)
n.329C>T
n.948G>A
c.1813C>T (p.Arg605Trp)
c.1717C>T (p.Arg573Trp)
c.1543C>T (p.Arg515Trp)
c.1765C>T (p.Arg589Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.186288547G>ACA358946209F11,F11-AS1c.1811G>A (p.Arg604Gln)
c.411G>A
c.1649G>A (p.Arg550Gln)
n.330G>A
n.947C>T
c.1814G>A (p.Arg605Gln)
c.1718G>A (p.Arg573Gln)
c.1544G>A (p.Arg515Gln)
c.1766G>A (p.Arg589Gln)
 dbSNP gnomAD v2 gnomAD v4
4g.186288547G>CCA358946208F11,F11-AS1c.1811G>C (p.Arg604Pro)
c.411G>C
c.1649G>C (p.Arg550Pro)
n.330G>C
n.947C>G
c.1814G>C (p.Arg605Pro)
c.1718G>C (p.Arg573Pro)
c.1544G>C (p.Arg515Pro)
c.1766G>C (p.Arg589Pro)
 dbSNP gnomAD v2 gnomAD v4
4g.186288547G=CA1519939846F11,F11-AS1c.1811G= (p.Arg604=)
c.411G=
c.1649G= (p.Arg550=)
n.330G=
n.947C=
c.1814G= (p.Arg605=)
c.1718G= (p.Arg573=)
c.1544G= (p.Arg515=)
c.1766G= (p.Arg589=)
4g.186288547G>TCA358946210F11,F11-AS1c.1811G>T (p.Arg604Leu)
c.411G>T
c.1649G>T (p.Arg550Leu)
n.330G>T
n.947C>A
c.1814G>T (p.Arg605Leu)
c.1718G>T (p.Arg573Leu)
c.1544G>T (p.Arg515Leu)
c.1766G>T (p.Arg589Leu)
4g.186288547_186288548insTCA3164130F11,F11-AS1c.1811_1812insT (p.Pro605AlafsTer?)
c.411_412insT
c.1649_1650insT (p.Pro551AlafsTer?)
n.330_331insT
n.946_947insA
c.1814_1815insT (p.Pro606AlafsTer?)
c.1718_1719insT (p.Pro574AlafsTer?)
c.1544_1545insT (p.Pro516AlafsTer?)
c.1766_1767insT (p.Pro590AlafsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288548G>ACA442641391F11,F11-AS1c.1812G>A (p.Arg604=)
c.412G>A
c.1650G>A (p.Arg550=)
n.331G>A
n.946C>T
c.1815G>A (p.Arg605=)
c.1719G>A (p.Arg573=)
c.1545G>A (p.Arg515=)
c.1767G>A (p.Arg589=)
4g.186288548G>CCA442641392F11,F11-AS1c.1812G>C (p.Arg604=)
c.412G>C
c.1650G>C (p.Arg550=)
n.331G>C
n.946C>G
c.1815G>C (p.Arg605=)
c.1719G>C (p.Arg573=)
c.1545G>C (p.Arg515=)
c.1767G>C (p.Arg589=)
 ClinVar dbSNP
4g.186288548G=CA1519939847F11,F11-AS1c.1812G= (p.Arg604=)
c.412G=
c.1650G= (p.Arg550=)
n.331G=
n.946C=
c.1815G= (p.Arg605=)
c.1719G= (p.Arg573=)
c.1545G= (p.Arg515=)
c.1767G= (p.Arg589=)
4g.186288548G>TCA3164131F11,F11-AS1c.1812G>T (p.Arg604=)
c.412G>T
c.1650G>T (p.Arg550=)
n.331G>T
n.946C>A
c.1815G>T (p.Arg605=)
c.1719G>T (p.Arg573=)
c.1545G>T (p.Arg515=)
c.1767G>T (p.Arg589=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288549C>ACA358946211F11,F11-AS1c.1813C>A (p.Pro605Thr)
c.413C>A
c.1651C>A (p.Pro551Thr)
n.332C>A
n.945G>T
c.1816C>A (p.Pro606Thr)
c.1720C>A (p.Pro574Thr)
c.1546C>A (p.Pro516Thr)
c.1768C>A (p.Pro590Thr)
4g.186288549C=CA1519939848F11,F11-AS1c.1813C= (p.Pro605=)
c.413C=
c.1651C= (p.Pro551=)
n.332C=
n.945G=
c.1816C= (p.Pro606=)
c.1720C= (p.Pro574=)
c.1546C= (p.Pro516=)
c.1768C= (p.Pro590=)
4g.186288549C>GCA358946212F11,F11-AS1c.1813C>G (p.Pro605Ala)
c.413C>G
c.1651C>G (p.Pro551Ala)
n.332C>G
n.945G>C
c.1816C>G (p.Pro606Ala)
c.1720C>G (p.Pro574Ala)
c.1546C>G (p.Pro516Ala)
c.1768C>G (p.Pro590Ala)
4g.186288549C>TCA3164132F11,F11-AS1c.1813C>T (p.Pro605Ser)
c.413C>T
c.1651C>T (p.Pro551Ser)
n.332C>T
n.945G>A
c.1816C>T (p.Pro606Ser)
c.1720C>T (p.Pro574Ser)
c.1546C>T (p.Pro516Ser)
c.1768C>T (p.Pro590Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288550C>ACA358946213F11,F11-AS1c.1814C>A (p.Pro605Gln)
c.414C>A
c.1652C>A (p.Pro551Gln)
n.333C>A
n.944G>T
c.1817C>A (p.Pro606Gln)
c.1721C>A (p.Pro574Gln)
c.1547C>A (p.Pro516Gln)
c.1769C>A (p.Pro590Gln)
 gnomAD v4
4g.186288550C>GCA358946214F11,F11-AS1c.1814C>G (p.Pro605Arg)
c.414C>G
c.1652C>G (p.Pro551Arg)
n.333C>G
n.944G>C
c.1817C>G (p.Pro606Arg)
c.1721C>G (p.Pro574Arg)
c.1547C>G (p.Pro516Arg)
c.1769C>G (p.Pro590Arg)
4g.186288550C>TCA358946215F11,F11-AS1c.1814C>T (p.Pro605Leu)
c.414C>T
c.1652C>T (p.Pro551Leu)
n.333C>T
n.944G>A
c.1817C>T (p.Pro606Leu)
c.1721C>T (p.Pro574Leu)
c.1547C>T (p.Pro516Leu)
c.1769C>T (p.Pro590Leu)
4g.186288551A=CA1519939849F11,F11-AS1c.1815A= (p.Pro605=)
c.415A=
c.1653A= (p.Pro551=)
n.334A=
n.943T=
c.1818A= (p.Pro606=)
c.1722A= (p.Pro574=)
c.1548A= (p.Pro516=)
c.1770A= (p.Pro590=)
4g.186288551A>CCA3164133F11,F11-AS1c.1815A>C (p.Pro605=)
c.415A>C
c.1653A>C (p.Pro551=)
n.334A>C
n.943T>G
c.1818A>C (p.Pro606=)
c.1722A>C (p.Pro574=)
c.1548A>C (p.Pro516=)
c.1770A>C (p.Pro590=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288551A>GCA3164134F11,F11-AS1c.1815A>G (p.Pro605=)
c.415A>G
c.1653A>G (p.Pro551=)
n.334A>G
n.943T>C
c.1818A>G (p.Pro606=)
c.1722A>G (p.Pro574=)
c.1548A>G (p.Pro516=)
c.1770A>G (p.Pro590=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288551A>TCA442641393F11,F11-AS1c.1815A>T (p.Pro605=)
c.415A>T
c.1653A>T (p.Pro551=)
n.334A>T
n.943T>A
c.1818A>T (p.Pro606=)
c.1722A>T (p.Pro574=)
c.1548A>T (p.Pro516=)
c.1770A>T (p.Pro590=)
4g.186288552G>ACA358946216F11,F11-AS1c.1816G>A (p.Gly606Ser)
c.416G>A
c.1654G>A (p.Gly552Ser)
n.335G>A
n.942C>T
c.1819G>A (p.Gly607Ser)
c.1723G>A (p.Gly575Ser)
c.1549G>A (p.Gly517Ser)
c.1771G>A (p.Gly591Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.186288552G>CCA358946217F11,F11-AS1c.1816G>C (p.Gly606Arg)
c.416G>C
c.1654G>C (p.Gly552Arg)
n.335G>C
n.942C>G
c.1819G>C (p.Gly607Arg)
c.1723G>C (p.Gly575Arg)
c.1549G>C (p.Gly517Arg)
c.1771G>C (p.Gly591Arg)
4g.186288552G=CA1519939850F11,F11-AS1c.1816G= (p.Gly606=)
c.416G=
c.1654G= (p.Gly552=)
n.335G=
n.942C=
c.1819G= (p.Gly607=)
c.1723G= (p.Gly575=)
c.1549G= (p.Gly517=)
c.1771G= (p.Gly591=)
4g.186288552G>TCA358946218F11,F11-AS1c.1816G>T (p.Gly606Cys)
c.416G>T
c.1654G>T (p.Gly552Cys)
n.335G>T
n.942C>A
c.1819G>T (p.Gly607Cys)
c.1723G>T (p.Gly575Cys)
c.1549G>T (p.Gly517Cys)
c.1771G>T (p.Gly591Cys)
4g.186288553G>ACA358946220F11,F11-AS1c.1817G>A (p.Gly606Asp)
c.417G>A
c.1655G>A (p.Gly552Asp)
n.336G>A
n.941C>T
c.1820G>A (p.Gly607Asp)
c.1724G>A (p.Gly575Asp)
c.1550G>A (p.Gly517Asp)
c.1772G>A (p.Gly591Asp)
4g.186288553G>CCA3164135F11,F11-AS1c.1817G>C (p.Gly606Ala)
c.417G>C
c.1655G>C (p.Gly552Ala)
n.336G>C
n.941C>G
c.1820G>C (p.Gly607Ala)
c.1724G>C (p.Gly575Ala)
c.1550G>C (p.Gly517Ala)
c.1772G>C (p.Gly591Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288553G=CA1519939851F11,F11-AS1c.1817G= (p.Gly606=)
c.417G=
c.1655G= (p.Gly552=)
n.336G=
n.941C=
c.1820G= (p.Gly607=)
c.1724G= (p.Gly575=)
c.1550G= (p.Gly517=)
c.1772G= (p.Gly591=)
4g.186288553G>TCA358946219F11,F11-AS1c.1817G>T (p.Gly606Val)
c.417G>T
c.1655G>T (p.Gly552Val)
n.336G>T
n.941C>A
c.1820G>T (p.Gly607Val)
c.1724G>T (p.Gly575Val)
c.1550G>T (p.Gly517Val)
c.1772G>T (p.Gly591Val)
 COSMIC
4g.186288554T>ACA442641394F11,F11-AS1c.1818T>A (p.Gly606=)
c.418T>A
c.1656T>A (p.Gly552=)
n.337T>A
n.940A>T
c.1821T>A (p.Gly607=)
c.1725T>A (p.Gly575=)
c.1551T>A (p.Gly517=)
c.1773T>A (p.Gly591=)
4g.186288554T>CCA442641395F11,F11-AS1c.1818T>C (p.Gly606=)
c.418T>C
c.1656T>C (p.Gly552=)
n.337T>C
n.940A>G
c.1821T>C (p.Gly607=)
c.1725T>C (p.Gly575=)
c.1551T>C (p.Gly517=)
c.1773T>C (p.Gly591=)
4g.186288554T>GCA442641396F11,F11-AS1c.1818T>G (p.Gly606=)
c.418T>G
c.1656T>G (p.Gly552=)
n.337T>G
n.940A>C
c.1821T>G (p.Gly607=)
c.1725T>G (p.Gly575=)
c.1551T>G (p.Gly517=)
c.1773T>G (p.Gly591=)
4g.186288555G>ACA358946221F11,F11-AS1c.1819G>A (p.Val607Ile)
c.419G>A
c.1657G>A (p.Val553Ile)
n.338G>A
n.939C>T
c.1822G>A (p.Val608Ile)
c.1726G>A (p.Val576Ile)
c.1552G>A (p.Val518Ile)
c.1774G>A (p.Val592Ile)
4g.186288555G>CCA358946222F11,F11-AS1c.1819G>C (p.Val607Leu)
c.419G>C
c.1657G>C (p.Val553Leu)
n.338G>C
n.939C>G
c.1822G>C (p.Val608Leu)
c.1726G>C (p.Val576Leu)
c.1552G>C (p.Val518Leu)
c.1774G>C (p.Val592Leu)
4g.186288555G=CA1519939852F11,F11-AS1c.1819G= (p.Val607=)
c.419G=
c.1657G= (p.Val553=)
n.338G=
n.939C=
c.1822G= (p.Val608=)
c.1726G= (p.Val576=)
c.1552G= (p.Val518=)
c.1774G= (p.Val592=)
4g.186288555G>TCA358946223F11,F11-AS1c.1819G>T (p.Val607Phe)
c.419G>T
c.1657G>T (p.Val553Phe)
n.338G>T
n.939C>A
c.1822G>T (p.Val608Phe)
c.1726G>T (p.Val576Phe)
c.1552G>T (p.Val518Phe)
c.1774G>T (p.Val592Phe)
4g.186288556T>ACA358946224F11,F11-AS1c.1820T>A (p.Val607Asp)
c.420T>A
c.1658T>A (p.Val553Asp)
n.339T>A
n.938A>T
c.1823T>A (p.Val608Asp)
c.1727T>A (p.Val576Asp)
c.1553T>A (p.Val518Asp)
c.1775T>A (p.Val592Asp)
4g.186288556T>CCA358946225F11,F11-AS1c.1820T>C (p.Val607Ala)
c.420T>C
c.1658T>C (p.Val553Ala)
n.339T>C
n.938A>G
c.1823T>C (p.Val608Ala)
c.1727T>C (p.Val576Ala)
c.1553T>C (p.Val518Ala)
c.1775T>C (p.Val592Ala)
 gnomAD v4
4g.186288556T>GCA358946226F11,F11-AS1c.1820T>G (p.Val607Gly)
c.420T>G
c.1658T>G (p.Val553Gly)
n.339T>G
n.938A>C
c.1823T>G (p.Val608Gly)
c.1727T>G (p.Val576Gly)
c.1553T>G (p.Val518Gly)
c.1775T>G (p.Val592Gly)
4g.186288559_186288560insATTTACA1519939853F11,F11-AS1c.1823_1824insATTTA (p.Tyr608Ter)
c.423_424insATTTA
c.1661_1662insATTTA (p.Tyr554Ter)
n.342_343insATTTA
n.938_939insTTAAA
c.1826_1827insATTTA (p.Tyr609Ter)
c.1730_1731insATTTA (p.Tyr577Ter)
c.1556_1557insATTTA (p.Tyr519Ter)
c.1778_1779insATTTA (p.Tyr593Ter)
 dbSNP
4g.186288557T>ACA442641397F11,F11-AS1c.1821T>A (p.Val607=)
c.421T>A
c.1659T>A (p.Val553=)
n.340T>A
n.937A>T
c.1824T>A (p.Val608=)
c.1728T>A (p.Val576=)
c.1554T>A (p.Val518=)
c.1776T>A (p.Val592=)
4g.186288557T>CCA442641398F11,F11-AS1c.1821T>C (p.Val607=)
c.421T>C
c.1659T>C (p.Val553=)
n.340T>C
n.937A>G
c.1824T>C (p.Val608=)
c.1728T>C (p.Val576=)
c.1554T>C (p.Val518=)
c.1776T>C (p.Val592=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186288557T>GCA442641399F11,F11-AS1c.1821T>G (p.Val607=)
c.421T>G
c.1659T>G (p.Val553=)
n.340T>G
n.937A>C
c.1824T>G (p.Val608=)
c.1728T>G (p.Val576=)
c.1554T>G (p.Val518=)
c.1776T>G (p.Val592=)
4g.186288557T=CA1519939854F11,F11-AS1c.1821T= (p.Val607=)
c.421T=
c.1659T= (p.Val553=)
n.340T=
n.937A=
c.1824T= (p.Val608=)
c.1728T= (p.Val576=)
c.1554T= (p.Val518=)
c.1776T= (p.Val592=)
4g.186288558T>ACA358946227F11,F11-AS1c.1822T>A (p.Tyr608Asn)
c.422T>A
c.1660T>A (p.Tyr554Asn)
n.341T>A
n.936A>T
c.1825T>A (p.Tyr609Asn)
c.1729T>A (p.Tyr577Asn)
c.1555T>A (p.Tyr519Asn)
c.1777T>A (p.Tyr593Asn)
4g.186288558T>CCA219132F11,F11-AS1c.1822T>C (p.Tyr608His)
c.422T>C
c.1660T>C (p.Tyr554His)
n.341T>C
n.936A>G
c.1825T>C (p.Tyr609His)
c.1729T>C (p.Tyr577His)
c.1555T>C (p.Tyr519His)
c.1777T>C (p.Tyr593His)
 ClinVar dbSNP COSMIC
4g.186288558T>GCA358946228F11,F11-AS1c.1822T>G (p.Tyr608Asp)
c.422T>G
c.1660T>G (p.Tyr554Asp)
n.341T>G
n.936A>C
c.1825T>G (p.Tyr609Asp)
c.1729T>G (p.Tyr577Asp)
c.1555T>G (p.Tyr519Asp)
c.1777T>G (p.Tyr593Asp)
4g.186288558T=CA1519939855F11,F11-AS1c.1822T= (p.Tyr608=)
c.422T=
c.1660T= (p.Tyr554=)
n.341T=
n.936A=
c.1825T= (p.Tyr609=)
c.1729T= (p.Tyr577=)
c.1555T= (p.Tyr519=)
c.1777T= (p.Tyr593=)
4g.186288559A>CCA358946229F11,F11-AS1c.1823A>C (p.Tyr608Ser)
c.423A>C
c.1661A>C (p.Tyr554Ser)
n.342A>C
n.935T>G
c.1826A>C (p.Tyr609Ser)
c.1730A>C (p.Tyr577Ser)
c.1556A>C (p.Tyr519Ser)
c.1778A>C (p.Tyr593Ser)
4g.186288559A>GCA358946230F11,F11-AS1c.1823A>G (p.Tyr608Cys)
c.423A>G
c.1661A>G (p.Tyr554Cys)
n.342A>G
n.935T>C
c.1826A>G (p.Tyr609Cys)
c.1730A>G (p.Tyr577Cys)
c.1556A>G (p.Tyr519Cys)
c.1778A>G (p.Tyr593Cys)
4g.186288559A>TCA358946231F11,F11-AS1c.1823A>T (p.Tyr608Phe)
c.423A>T
c.1661A>T (p.Tyr554Phe)
n.342A>T
n.935T>A
c.1826A>T (p.Tyr609Phe)
c.1730A>T (p.Tyr577Phe)
c.1556A>T (p.Tyr519Phe)
c.1778A>T (p.Tyr593Phe)
4g.186288560C>ACA358946232F11,F11-AS1c.1824C>A (p.Tyr608Ter)
c.424C>A
c.1662C>A (p.Tyr554Ter)
n.343C>A
n.934G>T
c.1827C>A (p.Tyr609Ter)
c.1731C>A (p.Tyr577Ter)
c.1557C>A (p.Tyr519Ter)
c.1779C>A (p.Tyr593Ter)
 dbSNP gnomAD v4
4g.186288560C=CA1519939856F11,F11-AS1c.1824C= (p.Tyr608=)
c.424C=
c.1662C= (p.Tyr554=)
n.343C=
n.934G=
c.1827C= (p.Tyr609=)
c.1731C= (p.Tyr577=)
c.1557C= (p.Tyr519=)
c.1779C= (p.Tyr593=)
4g.186288560C>GCA3164136F11,F11-AS1c.1824C>G (p.Tyr608Ter)
c.424C>G
c.1662C>G (p.Tyr554Ter)
n.343C>G
n.934G>C
c.1827C>G (p.Tyr609Ter)
c.1731C>G (p.Tyr577Ter)
c.1557C>G (p.Tyr519Ter)
c.1779C>G (p.Tyr593Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288560C>TCA442641400F11,F11-AS1c.1824C>T (p.Tyr608=)
c.424C>T
c.1662C>T (p.Tyr554=)
n.343C>T
n.934G>A
c.1827C>T (p.Tyr609=)
c.1731C>T (p.Tyr577=)
c.1557C>T (p.Tyr519=)
c.1779C>T (p.Tyr593=)
4g.186288561A>CCA358946233F11,F11-AS1c.1825A>C (p.Thr609Pro)
c.425A>C
c.1663A>C (p.Thr555Pro)
n.344A>C
n.933T>G
c.1828A>C (p.Thr610Pro)
c.1732A>C (p.Thr578Pro)
c.1558A>C (p.Thr520Pro)
c.1780A>C (p.Thr594Pro)
4g.186288561A>GCA358946234F11,F11-AS1c.1825A>G (p.Thr609Ala)
c.425A>G
c.1663A>G (p.Thr555Ala)
n.344A>G
n.933T>C
c.1828A>G (p.Thr610Ala)
c.1732A>G (p.Thr578Ala)
c.1558A>G (p.Thr520Ala)
c.1780A>G (p.Thr594Ala)
 gnomAD v4
4g.186288561A>TCA358946235F11,F11-AS1c.1825A>T (p.Thr609Ser)
c.425A>T
c.1663A>T (p.Thr555Ser)
n.344A>T
n.933T>A
c.1828A>T (p.Thr610Ser)
c.1732A>T (p.Thr578Ser)
c.1558A>T (p.Thr520Ser)
c.1780A>T (p.Thr594Ser)
4g.186288562C>ACA358946236F11,F11-AS1c.1826C>A (p.Thr609Asn)
c.426C>A
c.1664C>A (p.Thr555Asn)
n.345C>A
n.932G>T
c.1829C>A (p.Thr610Asn)
c.1733C>A (p.Thr578Asn)
c.1559C>A (p.Thr520Asn)
c.1781C>A (p.Thr594Asn)
4g.186288562C=CA1519939857F11,F11-AS1c.1826C= (p.Thr609=)
c.426C=
c.1664C= (p.Thr555=)
n.345C=
n.932G=
c.1829C= (p.Thr610=)
c.1733C= (p.Thr578=)
c.1559C= (p.Thr520=)
c.1781C= (p.Thr594=)
4g.186288562C>GCA358946237F11,F11-AS1c.1826C>G (p.Thr609Ser)
c.426C>G
c.1664C>G (p.Thr555Ser)
n.345C>G
n.932G>C
c.1829C>G (p.Thr610Ser)
c.1733C>G (p.Thr578Ser)
c.1559C>G (p.Thr520Ser)
c.1781C>G (p.Thr594Ser)
4g.186288562C>TCA358946238F11,F11-AS1c.1826C>T (p.Thr609Ile)
c.426C>T
c.1664C>T (p.Thr555Ile)
n.345C>T
n.932G>A
c.1829C>T (p.Thr610Ile)
c.1733C>T (p.Thr578Ile)
c.1559C>T (p.Thr520Ile)
c.1781C>T (p.Thr594Ile)
 dbSNP gnomAD v4 COSMIC COSMIC
4g.186288563C>ACA442641402F11,F11-AS1c.1827C>A (p.Thr609=)
c.427C>A
c.1665C>A (p.Thr555=)
n.346C>A
n.931G>T
c.1830C>A (p.Thr610=)
c.1734C>A (p.Thr578=)
c.1560C>A (p.Thr520=)
c.1782C>A (p.Thr594=)
4g.186288563C>GCA442641403F11,F11-AS1c.1827C>G (p.Thr609=)
c.427C>G
c.1665C>G (p.Thr555=)
n.346C>G
n.931G>C
c.1830C>G (p.Thr610=)
c.1734C>G (p.Thr578=)
c.1560C>G (p.Thr520=)
c.1782C>G (p.Thr594=)
4g.186288563C>TCA442641404F11,F11-AS1c.1827C>T (p.Thr609=)
c.427C>T
c.1665C>T (p.Thr555=)
n.346C>T
n.931G>A
c.1830C>T (p.Thr610=)
c.1734C>T (p.Thr578=)
c.1560C>T (p.Thr520=)
c.1782C>T (p.Thr594=)
4g.186288564A>CCA358946239F11,F11-AS1c.1828A>C (p.Asn610His)
c.428A>C
c.1666A>C (p.Asn556His)
n.347A>C
n.930T>G
c.1831A>C (p.Asn611His)
c.1735A>C (p.Asn579His)
c.1561A>C (p.Asn521His)
c.1783A>C (p.Asn595His)
4g.186288564A>GCA358946240F11,F11-AS1c.1828A>G (p.Asn610Asp)
c.428A>G
c.1666A>G (p.Asn556Asp)
n.347A>G
n.930T>C
c.1831A>G (p.Asn611Asp)
c.1735A>G (p.Asn579Asp)
c.1561A>G (p.Asn521Asp)
c.1783A>G (p.Asn595Asp)
4g.186288564A>TCA358946241F11,F11-AS1c.1828A>T (p.Asn610Tyr)
c.428A>T
c.1666A>T (p.Asn556Tyr)
n.347A>T
n.930T>A
c.1831A>T (p.Asn611Tyr)
c.1735A>T (p.Asn579Tyr)
c.1561A>T (p.Asn521Tyr)
c.1783A>T (p.Asn595Tyr)
4g.186288565A>CCA358946242F11,F11-AS1c.1829A>C (p.Asn610Thr)
c.429A>C
c.1667A>C (p.Asn556Thr)
n.348A>C
n.929T>G
c.1832A>C (p.Asn611Thr)
c.1736A>C (p.Asn579Thr)
c.1562A>C (p.Asn521Thr)
c.1784A>C (p.Asn595Thr)
4g.186288565A>GCA358946243F11,F11-AS1c.1829A>G (p.Asn610Ser)
c.429A>G
c.1667A>G (p.Asn556Ser)
n.348A>G
n.929T>C
c.1832A>G (p.Asn611Ser)
c.1736A>G (p.Asn579Ser)
c.1562A>G (p.Asn521Ser)
c.1784A>G (p.Asn595Ser)
4g.186288565A>TCA358946244F11,F11-AS1c.1829A>T (p.Asn610Ile)
c.429A>T
c.1667A>T (p.Asn556Ile)
n.348A>T
n.929T>A
c.1832A>T (p.Asn611Ile)
c.1736A>T (p.Asn579Ile)
c.1562A>T (p.Asn521Ile)
c.1784A>T (p.Asn595Ile)
4g.186288566C>ACA358946245F11,F11-AS1c.1830C>A (p.Asn610Lys)
c.430C>A
c.1668C>A (p.Asn556Lys)
n.349C>A
n.928G>T
c.1833C>A (p.Asn611Lys)
c.1737C>A (p.Asn579Lys)
c.1563C>A (p.Asn521Lys)
c.1785C>A (p.Asn595Lys)
 gnomAD v4
4g.186288566C=CA1519939858F11,F11-AS1c.1830C= (p.Asn610=)
c.430C=
c.1668C= (p.Asn556=)
n.349C=
n.928G=
c.1833C= (p.Asn611=)
c.1737C= (p.Asn579=)
c.1563C= (p.Asn521=)
c.1785C= (p.Asn595=)
4g.186288566C>GCA358946246F11,F11-AS1c.1830C>G (p.Asn610Lys)
c.430C>G
c.1668C>G (p.Asn556Lys)
n.349C>G
n.928G>C
c.1833C>G (p.Asn611Lys)
c.1737C>G (p.Asn579Lys)
c.1563C>G (p.Asn521Lys)
c.1785C>G (p.Asn595Lys)
4g.186288566C>TCA3164137F11,F11-AS1c.1830C>T (p.Asn610=)
c.430C>T
c.1668C>T (p.Asn556=)
n.349C>T
n.928G>A
c.1833C>T (p.Asn611=)
c.1737C>T (p.Asn579=)
c.1563C>T (p.Asn521=)
c.1785C>T (p.Asn595=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288567G>ACA358946247F11,F11-AS1c.1831G>A (p.Val611Met)
c.431G>A
c.1669G>A (p.Val557Met)
n.350G>A
n.927C>T
c.1834G>A (p.Val612Met)
c.1738G>A (p.Val580Met)
c.1564G>A (p.Val522Met)
c.1786G>A (p.Val596Met)
 ClinVar dbSNP gnomAD v4
4g.186288567G>CCA358946248F11,F11-AS1c.1831G>C (p.Val611Leu)
c.431G>C
c.1669G>C (p.Val557Leu)
n.350G>C
n.927C>G
c.1834G>C (p.Val612Leu)
c.1738G>C (p.Val580Leu)
c.1564G>C (p.Val522Leu)
c.1786G>C (p.Val596Leu)
4g.186288567G=CA1519939859F11,F11-AS1c.1831G= (p.Val611=)
c.431G=
c.1669G= (p.Val557=)
n.350G=
n.927C=
c.1834G= (p.Val612=)
c.1738G= (p.Val580=)
c.1564G= (p.Val522=)
c.1786G= (p.Val596=)
4g.186288567G>TCA358946249F11,F11-AS1c.1831G>T (p.Val611Leu)
c.431G>T
c.1669G>T (p.Val557Leu)
n.350G>T
n.927C>A
c.1834G>T (p.Val612Leu)
c.1738G>T (p.Val580Leu)
c.1564G>T (p.Val522Leu)
c.1786G>T (p.Val596Leu)
4g.186288568T>ACA112106340F11,F11-AS1c.1832T>A (p.Val611Glu)
c.432T>A
c.1670T>A (p.Val557Glu)
n.351T>A
n.926A>T
c.1835T>A (p.Val612Glu)
c.1739T>A (p.Val580Glu)
c.1565T>A (p.Val522Glu)
c.1787T>A (p.Val596Glu)
 dbSNP
4g.186288568T>CCA358946250F11,F11-AS1c.1832T>C (p.Val611Ala)
c.432T>C
c.1670T>C (p.Val557Ala)
n.351T>C
n.926A>G
c.1835T>C (p.Val612Ala)
c.1739T>C (p.Val580Ala)
c.1565T>C (p.Val522Ala)
c.1787T>C (p.Val596Ala)
4g.186288568T>GCA358946251F11,F11-AS1c.1832T>G (p.Val611Gly)
c.432T>G
c.1670T>G (p.Val557Gly)
n.351T>G
n.926A>C
c.1835T>G (p.Val612Gly)
c.1739T>G (p.Val580Gly)
c.1565T>G (p.Val522Gly)
c.1787T>G (p.Val596Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.186288568T=CA1519939860F11,F11-AS1c.1832T= (p.Val611=)
c.432T=
c.1670T= (p.Val557=)
n.351T=
n.926A=
c.1835T= (p.Val612=)
c.1739T= (p.Val580=)
c.1565T= (p.Val522=)
c.1787T= (p.Val596=)
4g.186288569G>ACA442641405F11,F11-AS1c.1833G>A (p.Val611=)
c.433G>A
c.1671G>A (p.Val557=)
n.352G>A
n.925C>T
c.1836G>A (p.Val612=)
c.1740G>A (p.Val580=)
c.1566G>A (p.Val522=)
c.1788G>A (p.Val596=)
4g.186288569G>CCA442641407F11,F11-AS1c.1833G>C (p.Val611=)
c.433G>C
c.1671G>C (p.Val557=)
n.352G>C
n.925C>G
c.1836G>C (p.Val612=)
c.1740G>C (p.Val580=)
c.1566G>C (p.Val522=)
c.1788G>C (p.Val596=)
4g.186288569G>TCA442641406F11,F11-AS1c.1833G>T (p.Val611=)
c.433G>T
c.1671G>T (p.Val557=)
n.352G>T
n.925C>A
c.1836G>T (p.Val612=)
c.1740G>T (p.Val580=)
c.1566G>T (p.Val522=)
c.1788G>T (p.Val596=)
4g.186288570G>ACA358946252F11,F11-AS1c.1834G>A (p.Val612Ile)
c.434G>A
c.1672G>A (p.Val558Ile)
n.353G>A
n.924C>T
c.1837G>A (p.Val613Ile)
c.1741G>A (p.Val581Ile)
c.1567G>A (p.Val523Ile)
c.1789G>A (p.Val597Ile)
4g.186288570G>CCA358946254F11,F11-AS1c.1834G>C (p.Val612Leu)
c.434G>C
c.1672G>C (p.Val558Leu)
n.353G>C
n.924C>G
c.1837G>C (p.Val613Leu)
c.1741G>C (p.Val581Leu)
c.1567G>C (p.Val523Leu)
c.1789G>C (p.Val597Leu)
4g.186288570G>TCA358946253F11,F11-AS1c.1834G>T (p.Val612Phe)
c.434G>T
c.1672G>T (p.Val558Phe)
n.353G>T
n.924C>A
c.1837G>T (p.Val613Phe)
c.1741G>T (p.Val581Phe)
c.1567G>T (p.Val523Phe)
c.1789G>T (p.Val597Phe)
4g.186288571T>ACA358946255F11,F11-AS1c.1835T>A (p.Val612Asp)
c.435T>A
c.1673T>A (p.Val558Asp)
n.354T>A
n.923A>T
c.1838T>A (p.Val613Asp)
c.1742T>A (p.Val581Asp)
c.1568T>A (p.Val523Asp)
c.1790T>A (p.Val597Asp)
4g.186288571T>CCA358946256F11,F11-AS1c.1835T>C (p.Val612Ala)
c.435T>C
c.1673T>C (p.Val558Ala)
n.354T>C
n.923A>G
c.1838T>C (p.Val613Ala)
c.1742T>C (p.Val581Ala)
c.1568T>C (p.Val523Ala)
c.1790T>C (p.Val597Ala)
4g.186288571T>GCA358946257F11,F11-AS1c.1835T>G (p.Val612Gly)
c.435T>G
c.1673T>G (p.Val558Gly)
n.354T>G
n.923A>C
c.1838T>G (p.Val613Gly)
c.1742T>G (p.Val581Gly)
c.1568T>G (p.Val523Gly)
c.1790T>G (p.Val597Gly)
4g.186288572C>ACA442641408F11,F11-AS1c.1836C>A (p.Val612=)
c.436C>A
c.1674C>A (p.Val558=)
n.355C>A
n.922G>T
c.1839C>A (p.Val613=)
c.1743C>A (p.Val581=)
c.1569C>A (p.Val523=)
c.1791C>A (p.Val597=)
 gnomAD v4
4g.186288572C=CA1519939861F11,F11-AS1c.1836C= (p.Val612=)
c.436C=
c.1674C= (p.Val558=)
n.355C=
n.922G=
c.1839C= (p.Val613=)
c.1743C= (p.Val581=)
c.1569C= (p.Val523=)
c.1791C= (p.Val597=)
4g.186288572C>GCA442641409F11,F11-AS1c.1836C>G (p.Val612=)
c.436C>G
c.1674C>G (p.Val558=)
n.355C>G
n.922G>C
c.1839C>G (p.Val613=)
c.1743C>G (p.Val581=)
c.1569C>G (p.Val523=)
c.1791C>G (p.Val597=)
4g.186288572C>TCA3164138F11,F11-AS1c.1836C>T (p.Val612=)
c.436C>T
c.1674C>T (p.Val558=)
n.355C>T
n.922G>A
c.1839C>T (p.Val613=)
c.1743C>T (p.Val581=)
c.1569C>T (p.Val523=)
c.1791C>T (p.Val597=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288573G>ACA3164139F11,F11-AS1c.1837G>A (p.Glu613Lys)
c.437G>A
c.1675G>A (p.Glu559Lys)
n.356G>A
n.921C>T
c.1840G>A (p.Glu614Lys)
c.1744G>A (p.Glu582Lys)
c.1570G>A (p.Glu524Lys)
c.1792G>A (p.Glu598Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288573G>CCA358946259F11,F11-AS1c.1837G>C (p.Glu613Gln)
c.437G>C
c.1675G>C (p.Glu559Gln)
n.356G>C
n.921C>G
c.1840G>C (p.Glu614Gln)
c.1744G>C (p.Glu582Gln)
c.1570G>C (p.Glu524Gln)
c.1792G>C (p.Glu598Gln)
4g.186288573G=CA1519939862F11,F11-AS1c.1837G= (p.Glu613=)
c.437G=
c.1675G= (p.Glu559=)
n.356G=
n.921C=
c.1840G= (p.Glu614=)
c.1744G= (p.Glu582=)
c.1570G= (p.Glu524=)
c.1792G= (p.Glu598=)
4g.186288573G>TCA358946258F11,F11-AS1c.1837G>T (p.Glu613Ter)
c.437G>T
c.1675G>T (p.Glu559Ter)
n.356G>T
n.921C>A
c.1840G>T (p.Glu614Ter)
c.1744G>T (p.Glu582Ter)
c.1570G>T (p.Glu524Ter)
c.1792G>T (p.Glu598Ter)
4g.186288574A>CCA358946260F11,F11-AS1c.1838A>C (p.Glu613Ala)
c.438A>C
c.1676A>C (p.Glu559Ala)
n.357A>C
n.920T>G
c.1841A>C (p.Glu614Ala)
c.1745A>C (p.Glu582Ala)
c.1571A>C (p.Glu524Ala)
c.1793A>C (p.Glu598Ala)
4g.186288574A>GCA358946262F11,F11-AS1c.1838A>G (p.Glu613Gly)
c.438A>G
c.1676A>G (p.Glu559Gly)
n.357A>G
n.920T>C
c.1841A>G (p.Glu614Gly)
c.1745A>G (p.Glu582Gly)
c.1571A>G (p.Glu524Gly)
c.1793A>G (p.Glu598Gly)
4g.186288574A>TCA358946261F11,F11-AS1c.1838A>T (p.Glu613Val)
c.438A>T
c.1676A>T (p.Glu559Val)
n.357A>T
n.920T>A
c.1841A>T (p.Glu614Val)
c.1745A>T (p.Glu582Val)
c.1571A>T (p.Glu524Val)
c.1793A>T (p.Glu598Val)
4g.186288575G>ACA3164140F11,F11-AS1c.1839G>A (p.Glu613=)
c.439G>A
c.1677G>A (p.Glu559=)
n.358G>A
n.919C>T
c.1842G>A (p.Glu614=)
c.1746G>A (p.Glu582=)
c.1572G>A (p.Glu524=)
c.1794G>A (p.Glu598=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288575G>CCA358946263F11,F11-AS1c.1839G>C (p.Glu613Asp)
c.439G>C
c.1677G>C (p.Glu559Asp)
n.358G>C
n.919C>G
c.1842G>C (p.Glu614Asp)
c.1746G>C (p.Glu582Asp)
c.1572G>C (p.Glu524Asp)
c.1794G>C (p.Glu598Asp)
4g.186288575G=CA1519939863F11,F11-AS1c.1839G= (p.Glu613=)
c.439G=
c.1677G= (p.Glu559=)
n.358G=
n.919C=
c.1842G= (p.Glu614=)
c.1746G= (p.Glu582=)
c.1572G= (p.Glu524=)
c.1794G= (p.Glu598=)
4g.186288575G>TCA358946264F11,F11-AS1c.1839G>T (p.Glu613Asp)
c.439G>T
c.1677G>T (p.Glu559Asp)
n.358G>T
n.919C>A
c.1842G>T (p.Glu614Asp)
c.1746G>T (p.Glu582Asp)
c.1572G>T (p.Glu524Asp)
c.1794G>T (p.Glu598Asp)
4g.186288576T>ACA358946265F11,F11-AS1c.1840T>A (p.Tyr614Asn)
c.440T>A
c.1678T>A (p.Tyr560Asn)
n.359T>A
n.918A>T
c.1843T>A (p.Tyr615Asn)
c.1747T>A (p.Tyr583Asn)
c.1573T>A (p.Tyr525Asn)
c.1795T>A (p.Tyr599Asn)
4g.186288576T>CCA358946266F11,F11-AS1c.1840T>C (p.Tyr614His)
c.440T>C
c.1678T>C (p.Tyr560His)
n.359T>C
n.918A>G
c.1843T>C (p.Tyr615His)
c.1747T>C (p.Tyr583His)
c.1573T>C (p.Tyr525His)
c.1795T>C (p.Tyr599His)
4g.186288576T>GCA358946267F11,F11-AS1c.1840T>G (p.Tyr614Asp)
c.440T>G
c.1678T>G (p.Tyr560Asp)
n.359T>G
n.918A>C
c.1843T>G (p.Tyr615Asp)
c.1747T>G (p.Tyr583Asp)
c.1573T>G (p.Tyr525Asp)
c.1795T>G (p.Tyr599Asp)
 dbSNP gnomAD v3 gnomAD v4
4g.186288576T=CA1519939864F11,F11-AS1c.1840T= (p.Tyr614=)
c.440T=
c.1678T= (p.Tyr560=)
n.359T=
n.918A=
c.1843T= (p.Tyr615=)
c.1747T= (p.Tyr583=)
c.1573T= (p.Tyr525=)
c.1795T= (p.Tyr599=)
4g.186288577A>CCA358946268F11,F11-AS1c.1841A>C (p.Tyr614Ser)
c.441A>C
c.1679A>C (p.Tyr560Ser)
n.360A>C
n.917T>G
c.1844A>C (p.Tyr615Ser)
c.1748A>C (p.Tyr583Ser)
c.1574A>C (p.Tyr525Ser)
c.1796A>C (p.Tyr599Ser)
4g.186288577A>GCA358946269F11,F11-AS1c.1841A>G (p.Tyr614Cys)
c.441A>G
c.1679A>G (p.Tyr560Cys)
n.360A>G
n.917T>C
c.1844A>G (p.Tyr615Cys)
c.1748A>G (p.Tyr583Cys)
c.1574A>G (p.Tyr525Cys)
c.1796A>G (p.Tyr599Cys)
4g.186288577A>TCA358946270F11,F11-AS1c.1841A>T (p.Tyr614Phe)
c.441A>T
c.1679A>T (p.Tyr560Phe)
n.360A>T
n.917T>A
c.1844A>T (p.Tyr615Phe)
c.1748A>T (p.Tyr583Phe)
c.1574A>T (p.Tyr525Phe)
c.1796A>T (p.Tyr599Phe)
4g.186288578C>ACA358946271F11,F11-AS1c.1842C>A (p.Tyr614Ter)
c.442C>A
c.1680C>A (p.Tyr560Ter)
n.361C>A
n.916G>T
c.1845C>A (p.Tyr615Ter)
c.1749C>A (p.Tyr583Ter)
c.1575C>A (p.Tyr525Ter)
c.1797C>A (p.Tyr599Ter)
4g.186288578C=CA1519939865F11,F11-AS1c.1842C= (p.Tyr614=)
c.442C=
c.1680C= (p.Tyr560=)
n.361C=
n.916G=
c.1845C= (p.Tyr615=)
c.1749C= (p.Tyr583=)
c.1575C= (p.Tyr525=)
c.1797C= (p.Tyr599=)
4g.186288578C>GCA358946272F11,F11-AS1c.1842C>G (p.Tyr614Ter)
c.442C>G
c.1680C>G (p.Tyr560Ter)
n.361C>G
n.916G>C
c.1845C>G (p.Tyr615Ter)
c.1749C>G (p.Tyr583Ter)
c.1575C>G (p.Tyr525Ter)
c.1797C>G (p.Tyr599Ter)
4g.186288578C>TCA3164141F11,F11-AS1c.1842C>T (p.Tyr614=)
c.442C>T
c.1680C>T (p.Tyr560=)
n.361C>T
n.916G>A
c.1845C>T (p.Tyr615=)
c.1749C>T (p.Tyr583=)
c.1575C>T (p.Tyr525=)
c.1797C>T (p.Tyr599=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288579G>ACA3164142F11,F11-AS1c.1843G>A (p.Val615Met)
c.443G>A
c.1681G>A (p.Val561Met)
n.362G>A
n.915C>T
c.1846G>A (p.Val616Met)
c.1750G>A (p.Val584Met)
c.1576G>A (p.Val526Met)
c.1798G>A (p.Val600Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288579G>CCA358946273F11,F11-AS1c.1843G>C (p.Val615Leu)
c.443G>C
c.1681G>C (p.Val561Leu)
n.362G>C
n.915C>G
c.1846G>C (p.Val616Leu)
c.1750G>C (p.Val584Leu)
c.1576G>C (p.Val526Leu)
c.1798G>C (p.Val600Leu)
4g.186288579G=CA1519939866F11,F11-AS1c.1843G= (p.Val615=)
c.443G=
c.1681G= (p.Val561=)
n.362G=
n.915C=
c.1846G= (p.Val616=)
c.1750G= (p.Val584=)
c.1576G= (p.Val526=)
c.1798G= (p.Val600=)
4g.186288579G>TCA358946274F11,F11-AS1c.1843G>T (p.Val615Leu)
c.443G>T
c.1681G>T (p.Val561Leu)
n.362G>T
n.915C>A
c.1846G>T (p.Val616Leu)
c.1750G>T (p.Val584Leu)
c.1576G>T (p.Val526Leu)
c.1798G>T (p.Val600Leu)
4g.186288580T>ACA358946275F11,F11-AS1c.1844T>A (p.Val615Glu)
c.444T>A
c.1682T>A (p.Val561Glu)
n.363T>A
n.914A>T
c.1847T>A (p.Val616Glu)
c.1751T>A (p.Val584Glu)
c.1577T>A (p.Val526Glu)
c.1799T>A (p.Val600Glu)
4g.186288580T>CCA358946276F11,F11-AS1c.1844T>C (p.Val615Ala)
c.444T>C
c.1682T>C (p.Val561Ala)
n.363T>C
n.914A>G
c.1847T>C (p.Val616Ala)
c.1751T>C (p.Val584Ala)
c.1577T>C (p.Val526Ala)
c.1799T>C (p.Val600Ala)
4g.186288580T>GCA3164143F11,F11-AS1c.1844T>G (p.Val615Gly)
c.444T>G
c.1682T>G (p.Val561Gly)
n.363T>G
n.914A>C
c.1847T>G (p.Val616Gly)
c.1751T>G (p.Val584Gly)
c.1577T>G (p.Val526Gly)
c.1799T>G (p.Val600Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288580T=CA1519939867F11,F11-AS1c.1844T= (p.Val615=)
c.444T=
c.1682T= (p.Val561=)
n.363T=
n.914A=
c.1847T= (p.Val616=)
c.1751T= (p.Val584=)
c.1577T= (p.Val526=)
c.1799T= (p.Val600=)
4g.186288581G>ACA442641413F11,F11-AS1c.1845G>A (p.Val615=)
c.445G>A
c.1683G>A (p.Val561=)
n.364G>A
n.913C>T
c.1848G>A (p.Val616=)
c.1752G>A (p.Val584=)
c.1578G>A (p.Val526=)
c.1800G>A (p.Val600=)
 dbSNP COSMIC COSMIC
4g.186288581G>CCA442641415F11,F11-AS1c.1845G>C (p.Val615=)
c.445G>C
c.1683G>C (p.Val561=)
n.364G>C
n.913C>G
c.1848G>C (p.Val616=)
c.1752G>C (p.Val584=)
c.1578G>C (p.Val526=)
c.1800G>C (p.Val600=)
4g.186288581G=CA1519939868F11,F11-AS1c.1845G= (p.Val615=)
c.445G=
c.1683G= (p.Val561=)
n.364G=
n.913C=
c.1848G= (p.Val616=)
c.1752G= (p.Val584=)
c.1578G= (p.Val526=)
c.1800G= (p.Val600=)
4g.186288581G>TCA442641414F11,F11-AS1c.1845G>T (p.Val615=)
c.445G>T
c.1683G>T (p.Val561=)
n.364G>T
n.913C>A
c.1848G>T (p.Val616=)
c.1752G>T (p.Val584=)
c.1578G>T (p.Val526=)
c.1800G>T (p.Val600=)
 gnomAD v4
4g.186288582G>ACA3164144F11,F11-AS1c.1846G>A (p.Asp616Asn)
c.446G>A
c.1684G>A (p.Asp562Asn)
n.365G>A
n.912C>T
c.1849G>A (p.Asp617Asn)
c.1753G>A (p.Asp585Asn)
c.1579G>A (p.Asp527Asn)
c.1801G>A (p.Asp601Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288582G>CCA358946277F11,F11-AS1c.1846G>C (p.Asp616His)
c.446G>C
c.1684G>C (p.Asp562His)
n.365G>C
n.912C>G
c.1849G>C (p.Asp617His)
c.1753G>C (p.Asp585His)
c.1579G>C (p.Asp527His)
c.1801G>C (p.Asp601His)
 dbSNP gnomAD v3 gnomAD v4
4g.186288582G=CA1519939869F11,F11-AS1c.1846G= (p.Asp616=)
c.446G=
c.1684G= (p.Asp562=)
n.365G=
n.912C=
c.1849G= (p.Asp617=)
c.1753G= (p.Asp585=)
c.1579G= (p.Asp527=)
c.1801G= (p.Asp601=)
4g.186288582G>TCA358946278F11,F11-AS1c.1846G>T (p.Asp616Tyr)
c.446G>T
c.1684G>T (p.Asp562Tyr)
n.365G>T
n.912C>A
c.1849G>T (p.Asp617Tyr)
c.1753G>T (p.Asp585Tyr)
c.1579G>T (p.Asp527Tyr)
c.1801G>T (p.Asp601Tyr)
4g.186288583A>CCA358946279F11,F11-AS1c.1847A>C (p.Asp616Ala)
c.447A>C
c.1685A>C (p.Asp562Ala)
n.366A>C
n.911T>G
c.1850A>C (p.Asp617Ala)
c.1754A>C (p.Asp585Ala)
c.1580A>C (p.Asp527Ala)
c.1802A>C (p.Asp601Ala)
4g.186288583A>GCA358946280F11,F11-AS1c.1847A>G (p.Asp616Gly)
c.447A>G
c.1685A>G (p.Asp562Gly)
n.366A>G
n.911T>C
c.1850A>G (p.Asp617Gly)
c.1754A>G (p.Asp585Gly)
c.1580A>G (p.Asp527Gly)
c.1802A>G (p.Asp601Gly)
 gnomAD v4
4g.186288583A>TCA358946281F11,F11-AS1c.1847A>T (p.Asp616Val)
c.447A>T
c.1685A>T (p.Asp562Val)
n.366A>T
n.911T>A
c.1850A>T (p.Asp617Val)
c.1754A>T (p.Asp585Val)
c.1580A>T (p.Asp527Val)
c.1802A>T (p.Asp601Val)
4g.186288584C>ACA358946282F11,F11-AS1c.1848C>A (p.Asp616Glu)
c.448C>A
c.1686C>A (p.Asp562Glu)
n.367C>A
n.910G>T
c.1851C>A (p.Asp617Glu)
c.1755C>A (p.Asp585Glu)
c.1581C>A (p.Asp527Glu)
c.1803C>A (p.Asp601Glu)
4g.186288584C>GCA358946283F11,F11-AS1c.1848C>G (p.Asp616Glu)
c.448C>G
c.1686C>G (p.Asp562Glu)
n.367C>G
n.910G>C
c.1851C>G (p.Asp617Glu)
c.1755C>G (p.Asp585Glu)
c.1581C>G (p.Asp527Glu)
c.1803C>G (p.Asp601Glu)
4g.186288584C>TCA442641417F11,F11-AS1c.1848C>T (p.Asp616=)
c.448C>T
c.1686C>T (p.Asp562=)
n.367C>T
n.910G>A
c.1851C>T (p.Asp617=)
c.1755C>T (p.Asp585=)
c.1581C>T (p.Asp527=)
c.1803C>T (p.Asp601=)
 gnomAD v4
4g.186288585T>ACA358946285F11,F11-AS1c.1849T>A (p.Trp617Arg)
c.449T>A
c.1687T>A (p.Trp563Arg)
n.368T>A
n.909A>T
c.1852T>A (p.Trp618Arg)
c.1756T>A (p.Trp586Arg)
c.1582T>A (p.Trp528Arg)
c.1804T>A (p.Trp602Arg)
4g.186288585T>CCA358946286F11,F11-AS1c.1849T>C (p.Trp617Arg)
c.449T>C
c.1687T>C (p.Trp563Arg)
n.368T>C
n.909A>G
c.1852T>C (p.Trp618Arg)
c.1756T>C (p.Trp586Arg)
c.1582T>C (p.Trp528Arg)
c.1804T>C (p.Trp602Arg)
4g.186288585T>GCA358946284F11,F11-AS1c.1849T>G (p.Trp617Gly)
c.449T>G
c.1687T>G (p.Trp563Gly)
n.368T>G
n.909A>C
c.1852T>G (p.Trp618Gly)
c.1756T>G (p.Trp586Gly)
c.1582T>G (p.Trp528Gly)
c.1804T>G (p.Trp602Gly)
 gnomAD v4
4g.186288586G>ACA358946287F11,F11-AS1c.1850G>A (p.Trp617Ter)
c.450G>A
c.1688G>A (p.Trp563Ter)
n.369G>A
n.908C>T
c.1853G>A (p.Trp618Ter)
c.1757G>A (p.Trp586Ter)
c.1583G>A (p.Trp528Ter)
c.1805G>A (p.Trp602Ter)
 gnomAD v4
4g.186288586G>CCA358946288F11,F11-AS1c.1850G>C (p.Trp617Ser)
c.450G>C
c.1688G>C (p.Trp563Ser)
n.369G>C
n.908C>G
c.1853G>C (p.Trp618Ser)
c.1757G>C (p.Trp586Ser)
c.1583G>C (p.Trp528Ser)
c.1805G>C (p.Trp602Ser)
4g.186288586G>TCA358946289F11,F11-AS1c.1850G>T (p.Trp617Leu)
c.450G>T
c.1688G>T (p.Trp563Leu)
n.369G>T
n.908C>A
c.1853G>T (p.Trp618Leu)
c.1757G>T (p.Trp586Leu)
c.1583G>T (p.Trp528Leu)
c.1805G>T (p.Trp602Leu)
4g.186288587G>ACA358946290F11,F11-AS1c.1851G>A (p.Trp617Ter)
c.451G>A
c.1689G>A (p.Trp563Ter)
n.370G>A
n.907C>T
c.1854G>A (p.Trp618Ter)
c.1758G>A (p.Trp586Ter)
c.1584G>A (p.Trp528Ter)
c.1806G>A (p.Trp602Ter)
 gnomAD v4
4g.186288587G>CCA358946291F11,F11-AS1c.1851G>C (p.Trp617Cys)
c.451G>C
c.1689G>C (p.Trp563Cys)
n.370G>C
n.907C>G
c.1854G>C (p.Trp618Cys)
c.1758G>C (p.Trp586Cys)
c.1584G>C (p.Trp528Cys)
c.1806G>C (p.Trp602Cys)
 gnomAD v4
4g.186288587G>TCA358946292F11,F11-AS1c.1851G>T (p.Trp617Cys)
c.451G>T
c.1689G>T (p.Trp563Cys)
n.370G>T
n.907C>A
c.1854G>T (p.Trp618Cys)
c.1758G>T (p.Trp586Cys)
c.1584G>T (p.Trp528Cys)
c.1806G>T (p.Trp602Cys)
4g.186288588A>CCA358946293F11,F11-AS1c.1852A>C (p.Ile618Leu)
c.452A>C
c.1690A>C (p.Ile564Leu)
n.371A>C
n.906T>G
c.1855A>C (p.Ile619Leu)
c.1759A>C (p.Ile587Leu)
c.1585A>C (p.Ile529Leu)
c.1807A>C (p.Ile603Leu)
4g.186288588A>GCA358946294F11,F11-AS1c.1852A>G (p.Ile618Val)
c.452A>G
c.1690A>G (p.Ile564Val)
n.371A>G
n.906T>C
c.1855A>G (p.Ile619Val)
c.1759A>G (p.Ile587Val)
c.1585A>G (p.Ile529Val)
c.1807A>G (p.Ile603Val)
 ClinVar dbSNP gnomAD v4
4g.186288588A>TCA358946295F11,F11-AS1c.1852A>T (p.Ile618Phe)
c.452A>T
c.1690A>T (p.Ile564Phe)
n.371A>T
n.906T>A
c.1855A>T (p.Ile619Phe)
c.1759A>T (p.Ile587Phe)
c.1585A>T (p.Ile529Phe)
c.1807A>T (p.Ile603Phe)
4g.186288589T>ACA358946296F11,F11-AS1c.1853T>A (p.Ile618Asn)
c.453T>A
c.1691T>A (p.Ile564Asn)
n.372T>A
n.905A>T
c.1856T>A (p.Ile619Asn)
c.1760T>A (p.Ile587Asn)
c.1586T>A (p.Ile529Asn)
c.1808T>A (p.Ile603Asn)
4g.186288589T>CCA358946297F11,F11-AS1c.1853T>C (p.Ile618Thr)
c.453T>C
c.1691T>C (p.Ile564Thr)
n.372T>C
n.905A>G
c.1856T>C (p.Ile619Thr)
c.1760T>C (p.Ile587Thr)
c.1586T>C (p.Ile529Thr)
c.1808T>C (p.Ile603Thr)
4g.186288589T>GCA219134F11,F11-AS1c.1853T>G (p.Ile618Ser)
c.453T>G
c.1691T>G (p.Ile564Ser)
n.372T>G
n.905A>C
c.1856T>G (p.Ile619Ser)
c.1760T>G (p.Ile587Ser)
c.1586T>G (p.Ile529Ser)
c.1808T>G (p.Ile603Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186288589T=CA1519939870F11,F11-AS1c.1853T= (p.Ile618=)
c.453T=
c.1691T= (p.Ile564=)
n.372T=
n.905A=
c.1856T= (p.Ile619=)
c.1760T= (p.Ile587=)
c.1586T= (p.Ile529=)
c.1808T= (p.Ile603=)
4g.186288590T>ACA442641421F11,F11-AS1c.1854T>A (p.Ile618=)
c.454T>A
c.1692T>A (p.Ile564=)
n.373T>A
n.904A>T
c.1857T>A (p.Ile619=)
c.1761T>A (p.Ile587=)
c.1587T>A (p.Ile529=)
c.1809T>A (p.Ile603=)
4g.186288590T>CCA442641420F11,F11-AS1c.1854T>C (p.Ile618=)
c.454T>C
c.1692T>C (p.Ile564=)
n.373T>C
n.904A>G
c.1857T>C (p.Ile619=)
c.1761T>C (p.Ile587=)
c.1587T>C (p.Ile529=)
c.1809T>C (p.Ile603=)
4g.186288590T>GCA358946298F11,F11-AS1c.1854T>G (p.Ile618Met)
c.454T>G
c.1692T>G (p.Ile564Met)
n.373T>G
n.904A>C
c.1857T>G (p.Ile619Met)
c.1761T>G (p.Ile587Met)
c.1587T>G (p.Ile529Met)
c.1809T>G (p.Ile603Met)
4g.186288591C>ACA358946300F11,F11-AS1c.1855C>A (p.Leu619Met)
c.455C>A
c.1693C>A (p.Leu565Met)
n.374C>A
n.903G>T
c.1858C>A (p.Leu620Met)
c.1762C>A (p.Leu588Met)
c.1588C>A (p.Leu530Met)
c.1810C>A (p.Leu604Met)
4g.186288591C>GCA358946299F11,F11-AS1c.1855C>G (p.Leu619Val)
c.455C>G
c.1693C>G (p.Leu565Val)
n.374C>G
n.903G>C
c.1858C>G (p.Leu620Val)
c.1762C>G (p.Leu588Val)
c.1588C>G (p.Leu530Val)
c.1810C>G (p.Leu604Val)
4g.186288591C>TCA442641423F11,F11-AS1c.1855C>T (p.Leu619=)
c.455C>T
c.1693C>T (p.Leu565=)
n.374C>T
n.903G>A
c.1858C>T (p.Leu620=)
c.1762C>T (p.Leu588=)
c.1588C>T (p.Leu530=)
c.1810C>T (p.Leu604=)
4g.186288592T>ACA358946301F11,F11-AS1c.1856T>A (p.Leu619Gln)
c.456T>A
c.1694T>A (p.Leu565Gln)
n.375T>A
n.902A>T
c.1859T>A (p.Leu620Gln)
c.1763T>A (p.Leu588Gln)
c.1589T>A (p.Leu530Gln)
c.1811T>A (p.Leu604Gln)
 gnomAD v4
4g.186288592T>CCA3164145F11,F11-AS1c.1856T>C (p.Leu619Pro)
c.456T>C
c.1694T>C (p.Leu565Pro)
n.375T>C
n.902A>G
c.1859T>C (p.Leu620Pro)
c.1763T>C (p.Leu588Pro)
c.1589T>C (p.Leu530Pro)
c.1811T>C (p.Leu604Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288592T>GCA358946302F11,F11-AS1c.1856T>G (p.Leu619Arg)
c.456T>G
c.1694T>G (p.Leu565Arg)
n.375T>G
n.902A>C
c.1859T>G (p.Leu620Arg)
c.1763T>G (p.Leu588Arg)
c.1589T>G (p.Leu530Arg)
c.1811T>G (p.Leu604Arg)
4g.186288592T=CA1519939871F11,F11-AS1c.1856T= (p.Leu619=)
c.456T=
c.1694T= (p.Leu565=)
n.375T=
n.902A=
c.1859T= (p.Leu620=)
c.1763T= (p.Leu588=)
c.1589T= (p.Leu530=)
c.1811T= (p.Leu604=)
4g.186288593G>ACA442641424F11,F11-AS1c.1857G>A (p.Leu619=)
c.457G>A
c.1695G>A (p.Leu565=)
n.376G>A
n.901C>T
c.1860G>A (p.Leu620=)
c.1764G>A (p.Leu588=)
c.1590G>A (p.Leu530=)
c.1812G>A (p.Leu604=)
 gnomAD v4
4g.186288593G>CCA442641425F11,F11-AS1c.1857G>C (p.Leu619=)
c.457G>C
c.1695G>C (p.Leu565=)
n.376G>C
n.901C>G
c.1860G>C (p.Leu620=)
c.1764G>C (p.Leu588=)
c.1590G>C (p.Leu530=)
c.1812G>C (p.Leu604=)
4g.186288593G>TCA442641426F11,F11-AS1c.1857G>T (p.Leu619=)
c.457G>T
c.1695G>T (p.Leu565=)
n.376G>T
n.901C>A
c.1860G>T (p.Leu620=)
c.1764G>T (p.Leu588=)
c.1590G>T (p.Leu530=)
c.1812G>T (p.Leu604=)
 gnomAD v4
4g.186288594G>ACA358946303F11,F11-AS1c.1858G>A (p.Glu620Lys)
c.458G>A
c.1696G>A (p.Glu566Lys)
n.377G>A
n.900C>T
c.1861G>A (p.Glu621Lys)
c.1765G>A (p.Glu589Lys)
c.1591G>A (p.Glu531Lys)
c.1813G>A (p.Glu605Lys)
 dbSNP gnomAD v3 gnomAD v4
4g.186288594G>CCA3164146F11,F11-AS1c.1858G>C (p.Glu620Gln)
c.458G>C
c.1696G>C (p.Glu566Gln)
n.377G>C
n.900C>G
c.1861G>C (p.Glu621Gln)
c.1765G>C (p.Glu589Gln)
c.1591G>C (p.Glu531Gln)
c.1813G>C (p.Glu605Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288594G=CA1519939872F11,F11-AS1c.1858G= (p.Glu620=)
c.458G=
c.1696G= (p.Glu566=)
n.377G=
n.900C=
c.1861G= (p.Glu621=)
c.1765G= (p.Glu589=)
c.1591G= (p.Glu531=)
c.1813G= (p.Glu605=)
4g.186288594G>TCA358946307F11,F11-AS1c.1858G>T (p.Glu620Ter)
c.458G>T
c.1696G>T (p.Glu566Ter)
n.377G>T
n.900C>A
c.1861G>T (p.Glu621Ter)
c.1765G>T (p.Glu589Ter)
c.1591G>T (p.Glu531Ter)
c.1813G>T (p.Glu605Ter)
4g.186288594_186288595delinsAGCA2695204113F11,F11-AS1c.1858_1859delinsAG (p.Glu620Arg)
c.458_459delinsAG
c.1696_1697delinsAG (p.Glu566Arg)
n.377_378delinsAG
n.899_900delinsCT
c.1861_1862delinsAG (p.Glu621Arg)
c.1765_1766delinsAG (p.Glu589Arg)
c.1591_1592delinsAG (p.Glu531Arg)
c.1813_1814delinsAG (p.Glu605Arg)
4g.186288595A=CA1519939873F11,F11-AS1c.1859A= (p.Glu620=)
c.459A=
c.1697A= (p.Glu566=)
n.378A=
n.899T=
c.1862A= (p.Glu621=)
c.1766A= (p.Glu589=)
c.1592A= (p.Glu531=)
c.1814A= (p.Glu605=)
4g.186288595A>CCA358946316F11,F11-AS1c.1859A>C (p.Glu620Ala)
c.459A>C
c.1697A>C (p.Glu566Ala)
n.378A>C
n.899T>G
c.1862A>C (p.Glu621Ala)
c.1766A>C (p.Glu589Ala)
c.1592A>C (p.Glu531Ala)
c.1814A>C (p.Glu605Ala)
4g.186288595A>GCA358946311F11,F11-AS1c.1859A>G (p.Glu620Gly)
c.459A>G
c.1697A>G (p.Glu566Gly)
n.378A>G
n.899T>C
c.1862A>G (p.Glu621Gly)
c.1766A>G (p.Glu589Gly)
c.1592A>G (p.Glu531Gly)
c.1814A>G (p.Glu605Gly)
 dbSNP gnomAD v3 gnomAD v4
4g.186288595A>TCA358946314F11,F11-AS1c.1859A>T (p.Glu620Val)
c.459A>T
c.1697A>T (p.Glu566Val)
n.378A>T
n.899T>A
c.1862A>T (p.Glu621Val)
c.1766A>T (p.Glu589Val)
c.1592A>T (p.Glu531Val)
c.1814A>T (p.Glu605Val)
4g.186288596G>ACA442641427F11,F11-AS1c.1860G>A (p.Glu620=)
c.460G>A
c.1698G>A (p.Glu566=)
n.379G>A
n.898C>T
c.1863G>A (p.Glu621=)
c.1767G>A (p.Glu589=)
c.1593G>A (p.Glu531=)
c.1815G>A (p.Glu605=)
4g.186288596G>CCA358946320F11,F11-AS1c.1860G>C (p.Glu620Asp)
c.460G>C
c.1698G>C (p.Glu566Asp)
n.379G>C
n.898C>G
c.1863G>C (p.Glu621Asp)
c.1767G>C (p.Glu589Asp)
c.1593G>C (p.Glu531Asp)
c.1815G>C (p.Glu605Asp)
4g.186288596G>TCA358946322F11,F11-AS1c.1860G>T (p.Glu620Asp)
c.460G>T
c.1698G>T (p.Glu566Asp)
n.379G>T
n.898C>A
c.1863G>T (p.Glu621Asp)
c.1767G>T (p.Glu589Asp)
c.1593G>T (p.Glu531Asp)
c.1815G>T (p.Glu605Asp)
4g.186288597A>CCA358946326F11,F11-AS1c.1861A>C (p.Lys621Gln)
c.461A>C
c.1699A>C (p.Lys567Gln)
n.380A>C
n.897T>G
c.1864A>C (p.Lys622Gln)
c.1768A>C (p.Lys590Gln)
c.1594A>C (p.Lys532Gln)
c.1816A>C (p.Lys606Gln)
4g.186288597A>GCA358946328F11,F11-AS1c.1861A>G (p.Lys621Glu)
c.461A>G
c.1699A>G (p.Lys567Glu)
n.380A>G
n.897T>C
c.1864A>G (p.Lys622Glu)
c.1768A>G (p.Lys590Glu)
c.1594A>G (p.Lys532Glu)
c.1816A>G (p.Lys606Glu)
4g.186288597A>TCA358946331F11,F11-AS1c.1861A>T (p.Lys621Ter)
c.461A>T
c.1699A>T (p.Lys567Ter)
n.380A>T
n.897T>A
c.1864A>T (p.Lys622Ter)
c.1768A>T (p.Lys590Ter)
c.1594A>T (p.Lys532Ter)
c.1816A>T (p.Lys606Ter)
4g.186288598A>CCA358946341F11,F11-AS1c.1862A>C (p.Lys621Thr)
c.462A>C
c.1700A>C (p.Lys567Thr)
n.381A>C
n.896T>G
c.1865A>C (p.Lys622Thr)
c.1769A>C (p.Lys590Thr)
c.1595A>C (p.Lys532Thr)
c.1817A>C (p.Lys606Thr)
4g.186288598A>GCA358946338F11,F11-AS1c.1862A>G (p.Lys621Arg)
c.462A>G
c.1700A>G (p.Lys567Arg)
n.381A>G
n.896T>C
c.1865A>G (p.Lys622Arg)
c.1769A>G (p.Lys590Arg)
c.1595A>G (p.Lys532Arg)
c.1817A>G (p.Lys606Arg)
4g.186288598A>TCA358946334F11,F11-AS1c.1862A>T (p.Lys621Ile)
c.462A>T
c.1700A>T (p.Lys567Ile)
n.381A>T
n.896T>A
c.1865A>T (p.Lys622Ile)
c.1769A>T (p.Lys590Ile)
c.1595A>T (p.Lys532Ile)
c.1817A>T (p.Lys606Ile)
4g.186288599A>CCA358946345F11,F11-AS1c.1863A>C (p.Lys621Asn)
c.463A>C
c.1701A>C (p.Lys567Asn)
n.382A>C
n.895T>G
c.1866A>C (p.Lys622Asn)
c.1770A>C (p.Lys590Asn)
c.1596A>C (p.Lys532Asn)
c.1818A>C (p.Lys606Asn)
4g.186288599A>GCA442641429F11,F11-AS1c.1863A>G (p.Lys621=)
c.463A>G
c.1701A>G (p.Lys567=)
n.382A>G
n.895T>C
c.1866A>G (p.Lys622=)
c.1770A>G (p.Lys590=)
c.1596A>G (p.Lys532=)
c.1818A>G (p.Lys606=)
 gnomAD v4
4g.186288599A>TCA358946347F11,F11-AS1c.1863A>T (p.Lys621Asn)
c.463A>T
c.1701A>T (p.Lys567Asn)
n.382A>T
n.895T>A
c.1866A>T (p.Lys622Asn)
c.1770A>T (p.Lys590Asn)
c.1596A>T (p.Lys532Asn)
c.1818A>T (p.Lys606Asn)
4g.186288600A>CCA358946350F11,F11-AS1c.1864A>C (p.Thr622Pro)
c.464A>C
c.1702A>C (p.Thr568Pro)
n.383A>C
n.894T>G
c.1867A>C (p.Thr623Pro)
c.1771A>C (p.Thr591Pro)
c.1597A>C (p.Thr533Pro)
c.1819A>C (p.Thr607Pro)
4g.186288600A>GCA358946355F11,F11-AS1c.1864A>G (p.Thr622Ala)
c.464A>G
c.1702A>G (p.Thr568Ala)
n.383A>G
n.894T>C
c.1867A>G (p.Thr623Ala)
c.1771A>G (p.Thr591Ala)
c.1597A>G (p.Thr533Ala)
c.1819A>G (p.Thr607Ala)
4g.186288600A>TCA358946352F11,F11-AS1c.1864A>T (p.Thr622Ser)
c.464A>T
c.1702A>T (p.Thr568Ser)
n.383A>T
n.894T>A
c.1867A>T (p.Thr623Ser)
c.1771A>T (p.Thr591Ser)
c.1597A>T (p.Thr533Ser)
c.1819A>T (p.Thr607Ser)
4g.186288600_186288602delinsACTCA1519939874F11,F11-AS1c.1864_1866delinsACT (p.Thr622=)
c.464_466delinsACT
c.1702_1704delinsACT (p.Thr568=)
n.383_385delinsACT
n.892_894delinsAGT
c.1867_1869delinsACT (p.Thr623=)
c.1771_1773delinsACT (p.Thr591=)
c.1597_1599delinsACT (p.Thr533=)
c.1819_1821delinsACT (p.Thr607=)
4g.186288601C>ACA358946357F11,F11-AS1c.1865C>A (p.Thr622Asn)
c.465C>A
c.1703C>A (p.Thr568Asn)
n.384C>A
n.893G>T
c.1868C>A (p.Thr623Asn)
c.1772C>A (p.Thr591Asn)
c.1598C>A (p.Thr533Asn)
c.1820C>A (p.Thr607Asn)
4g.186288601C=CA1519939876F11,F11-AS1c.1865C= (p.Thr622=)
c.465C=
c.1703C= (p.Thr568=)
n.384C=
n.893G=
c.1868C= (p.Thr623=)
c.1772C= (p.Thr591=)
c.1598C= (p.Thr533=)
c.1820C= (p.Thr607=)
4g.186288601C>GCA358946362F11,F11-AS1c.1865C>G (p.Thr622Ser)
c.465C>G
c.1703C>G (p.Thr568Ser)
n.384C>G
n.893G>C
c.1868C>G (p.Thr623Ser)
c.1772C>G (p.Thr591Ser)
c.1598C>G (p.Thr533Ser)
c.1820C>G (p.Thr607Ser)
4g.186288601C>TCA358946360F11,F11-AS1c.1865C>T (p.Thr622Ile)
c.465C>T
c.1703C>T (p.Thr568Ile)
n.384C>T
n.893G>A
c.1868C>T (p.Thr623Ile)
c.1772C>T (p.Thr591Ile)
c.1598C>T (p.Thr533Ile)
c.1820C>T (p.Thr607Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.186288602_186288603delCA1519939875F11,F11-AS1c.1866_1867del (p.Gln623SerfsTer?)
c.466_467del
c.1704_1705del (p.Gln569SerfsTer?)
n.385_386del
n.892_893del
c.1869_1870del (p.Gln624SerfsTer?)
c.1773_1774del (p.Gln592SerfsTer?)
c.1599_1600del (p.Gln534SerfsTer?)
c.1821_1822del (p.Gln608SerfsTer?)
 ClinVar dbSNP
4g.186288602T>ACA442641432F11,F11-AS1c.1866T>A (p.Thr622=)
c.466T>A
c.1704T>A (p.Thr568=)
n.385T>A
n.892A>T
c.1869T>A (p.Thr623=)
c.1773T>A (p.Thr591=)
c.1599T>A (p.Thr533=)
c.1821T>A (p.Thr607=)
4g.186288602T>CCA442641434F11,F11-AS1c.1866T>C (p.Thr622=)
c.466T>C
c.1704T>C (p.Thr568=)
n.385T>C
n.892A>G
c.1869T>C (p.Thr623=)
c.1773T>C (p.Thr591=)
c.1599T>C (p.Thr533=)
c.1821T>C (p.Thr607=)
4g.186288602T>GCA442641435F11,F11-AS1c.1866T>G (p.Thr622=)
c.466T>G
c.1704T>G (p.Thr568=)
n.385T>G
n.892A>C
c.1869T>G (p.Thr623=)
c.1773T>G (p.Thr591=)
c.1599T>G (p.Thr533=)
c.1821T>G (p.Thr607=)
4g.186288603C>ACA358946367F11,F11-AS1c.1867C>A (p.Gln623Lys)
c.467C>A
c.1705C>A (p.Gln569Lys)
n.386C>A
n.891G>T
c.1870C>A (p.Gln624Lys)
c.1774C>A (p.Gln592Lys)
c.1600C>A (p.Gln534Lys)
c.1822C>A (p.Gln608Lys)
4g.186288603C>GCA358946369F11,F11-AS1c.1867C>G (p.Gln623Glu)
c.467C>G
c.1705C>G (p.Gln569Glu)
n.386C>G
n.891G>C
c.1870C>G (p.Gln624Glu)
c.1774C>G (p.Gln592Glu)
c.1600C>G (p.Gln534Glu)
c.1822C>G (p.Gln608Glu)
 gnomAD v4
4g.186288603C>TCA358946371F11,F11-AS1c.1867C>T (p.Gln623Ter)
c.467C>T
c.1705C>T (p.Gln569Ter)
n.386C>T
n.891G>A
c.1870C>T (p.Gln624Ter)
c.1774C>T (p.Gln592Ter)
c.1600C>T (p.Gln534Ter)
c.1822C>T (p.Gln608Ter)
4g.186288604A>CCA358946375F11,F11-AS1c.1868A>C (p.Gln623Pro)
c.468A>C
c.1706A>C (p.Gln569Pro)
n.387A>C
n.890T>G
c.1871A>C (p.Gln624Pro)
c.1775A>C (p.Gln592Pro)
c.1601A>C (p.Gln534Pro)
c.1823A>C (p.Gln608Pro)
 gnomAD v4
4g.186288604A>GCA358946376F11,F11-AS1c.1868A>G (p.Gln623Arg)
c.468A>G
c.1706A>G (p.Gln569Arg)
n.387A>G
n.890T>C
c.1871A>G (p.Gln624Arg)
c.1775A>G (p.Gln592Arg)
c.1601A>G (p.Gln534Arg)
c.1823A>G (p.Gln608Arg)
4g.186288604A>TCA358946379F11,F11-AS1c.1868A>T (p.Gln623Leu)
c.468A>T
c.1706A>T (p.Gln569Leu)
n.387A>T
n.890T>A
c.1871A>T (p.Gln624Leu)
c.1775A>T (p.Gln592Leu)
c.1601A>T (p.Gln534Leu)
c.1823A>T (p.Gln608Leu)
4g.186288605A>CCA358946381F11,F11-AS1c.1869A>C (p.Gln623His)
c.469A>C
c.1707A>C (p.Gln569His)
n.388A>C
n.889T>G
c.1872A>C (p.Gln624His)
c.1776A>C (p.Gln592His)
c.1602A>C (p.Gln534His)
c.1824A>C (p.Gln608His)
4g.186288605A>GCA442641438F11,F11-AS1c.1869A>G (p.Gln623=)
c.469A>G
c.1707A>G (p.Gln569=)
n.388A>G
n.889T>C
c.1872A>G (p.Gln624=)
c.1776A>G (p.Gln592=)
c.1602A>G (p.Gln534=)
c.1824A>G (p.Gln608=)
4g.186288605A>TCA358946383F11,F11-AS1c.1869A>T (p.Gln623His)
c.469A>T
c.1707A>T (p.Gln569His)
n.388A>T
n.889T>A
c.1872A>T (p.Gln624His)
c.1776A>T (p.Gln592His)
c.1602A>T (p.Gln534His)
c.1824A>T (p.Gln608His)
4g.186288606G>ACA358946387F11,F11-AS1c.1870G>A (p.Ala624Thr)
c.470G>A
c.1708G>A (p.Ala570Thr)
n.389G>A
n.888C>T
c.1873G>A (p.Ala625Thr)
c.1777G>A (p.Ala593Thr)
c.1603G>A (p.Ala535Thr)
c.1825G>A (p.Ala609Thr)
4g.186288606G>CCA358946390F11,F11-AS1c.1870G>C (p.Ala624Pro)
c.470G>C
c.1708G>C (p.Ala570Pro)
n.389G>C
n.888C>G
c.1873G>C (p.Ala625Pro)
c.1777G>C (p.Ala593Pro)
c.1603G>C (p.Ala535Pro)
c.1825G>C (p.Ala609Pro)
4g.186288606G>TCA358946391F11,F11-AS1c.1870G>T (p.Ala624Ser)
c.470G>T
c.1708G>T (p.Ala570Ser)
n.389G>T
n.888C>A
c.1873G>T (p.Ala625Ser)
c.1777G>T (p.Ala593Ser)
c.1603G>T (p.Ala535Ser)
c.1825G>T (p.Ala609Ser)
 gnomAD v4
4g.186288607C>ACA358946400F11,F11-AS1c.1871C>A (p.Ala624Glu)
c.471C>A
c.1709C>A (p.Ala570Glu)
n.390C>A
n.887G>T
c.1874C>A (p.Ala625Glu)
c.1778C>A (p.Ala593Glu)
c.1604C>A (p.Ala535Glu)
c.1826C>A (p.Ala609Glu)
4g.186288607C=CA1519939877F11,F11-AS1c.1871C= (p.Ala624=)
c.471C=
c.1709C= (p.Ala570=)
n.390C=
n.887G=
c.1874C= (p.Ala625=)
c.1778C= (p.Ala593=)
c.1604C= (p.Ala535=)
c.1826C= (p.Ala609=)
4g.186288607C>GCA358946397F11,F11-AS1c.1871C>G (p.Ala624Gly)
c.471C>G
c.1709C>G (p.Ala570Gly)
n.390C>G
n.887G>C
c.1874C>G (p.Ala625Gly)
c.1778C>G (p.Ala593Gly)
c.1604C>G (p.Ala535Gly)
c.1826C>G (p.Ala609Gly)
4g.186288607C>TCA358946395F11,F11-AS1c.1871C>T (p.Ala624Val)
c.471C>T
c.1709C>T (p.Ala570Val)
n.390C>T
n.887G>A
c.1874C>T (p.Ala625Val)
c.1778C>T (p.Ala593Val)
c.1604C>T (p.Ala535Val)
c.1826C>T (p.Ala609Val)
 dbSNP gnomAD v2 gnomAD v4
4g.186288608A>CCA442641440F11,F11-AS1c.1872A>C (p.Ala624=)
c.472A>C
c.1710A>C (p.Ala570=)
n.391A>C
n.886T>G
c.1875A>C (p.Ala625=)
c.1779A>C (p.Ala593=)
c.1605A>C (p.Ala535=)
c.1827A>C (p.Ala609=)
4g.186288608A>GCA442641441F11,F11-AS1c.1872A>G (p.Ala624=)
c.472A>G
c.1710A>G (p.Ala570=)
n.391A>G
n.886T>C
c.1875A>G (p.Ala625=)
c.1779A>G (p.Ala593=)
c.1605A>G (p.Ala535=)
c.1827A>G (p.Ala609=)
 gnomAD v4
4g.186288608A>TCA442641442F11,F11-AS1c.1872A>T (p.Ala624=)
c.472A>T
c.1710A>T (p.Ala570=)
n.391A>T
n.886T>A
c.1875A>T (p.Ala625=)
c.1779A>T (p.Ala593=)
c.1605A>T (p.Ala535=)
c.1827A>T (p.Ala609=)
4g.186288609G>ACA358946404F11,F11-AS1c.1873G>A (p.Val625Met)
c.473G>A
c.1711G>A (p.Val571Met)
n.392G>A
n.885C>T
c.1876G>A (p.Val626Met)
c.1780G>A (p.Val594Met)
c.1606G>A (p.Val536Met)
c.1828G>A (p.Val610Met)
4g.186288609G>CCA358946406F11,F11-AS1c.1873G>C (p.Val625Leu)
c.473G>C
c.1711G>C (p.Val571Leu)
n.392G>C
n.885C>G
c.1876G>C (p.Val626Leu)
c.1780G>C (p.Val594Leu)
c.1606G>C (p.Val536Leu)
c.1828G>C (p.Val610Leu)
 gnomAD v4
4g.186288609G>TCA358946408F11,F11-AS1c.1873G>T (p.Val625Leu)
c.473G>T
c.1711G>T (p.Val571Leu)
n.392G>T
n.885C>A
c.1876G>T (p.Val626Leu)
c.1780G>T (p.Val594Leu)
c.1606G>T (p.Val536Leu)
c.1828G>T (p.Val610Leu)
 COSMIC COSMIC
4g.186288610_186288613delCA2672904186F11,F11-AS1c.1874_1877del (p.Val625GlufsTer11)
c.474_477del
c.1712_1715del (p.Val571GlufsTer11)
n.393_396del
n.882_885del
c.1877_1880del (p.Val626GlufsTer11)
c.1781_1784del (p.Val594GlufsTer11)
c.1607_1610del (p.Val536GlufsTer11)
c.1829_1832del (p.Val610GlufsTer11)
 gnomAD v4
4g.186288610T>ACA358946412F11,F11-AS1c.1874T>A (p.Val625Glu)
c.474T>A
c.1712T>A (p.Val571Glu)
n.393T>A
n.884A>T
c.1877T>A (p.Val626Glu)
c.1781T>A (p.Val594Glu)
c.1607T>A (p.Val536Glu)
c.1829T>A (p.Val610Glu)
4g.186288610T>CCA358946414F11,F11-AS1c.1874T>C (p.Val625Ala)
c.474T>C
c.1712T>C (p.Val571Ala)
n.393T>C
n.884A>G
c.1877T>C (p.Val626Ala)
c.1781T>C (p.Val594Ala)
c.1607T>C (p.Val536Ala)
c.1829T>C (p.Val610Ala)
4g.186288610T>GCA358946417F11,F11-AS1c.1874T>G (p.Val625Gly)
c.474T>G
c.1712T>G (p.Val571Gly)
n.393T>G
n.884A>C
c.1877T>G (p.Val626Gly)
c.1781T>G (p.Val594Gly)
c.1607T>G (p.Val536Gly)
c.1829T>G (p.Val610Gly)
4g.186288611G>ACA442641445F11,F11-AS1c.1875G>A (p.Val625=)
c.475G>A
c.1713G>A (p.Val571=)
n.394G>A
n.883C>T
c.1878G>A (p.Val626=)
c.1782G>A (p.Val594=)
c.1608G>A (p.Val536=)
c.1830G>A (p.Val610=)
 dbSNP
4g.186288611G>CCA442641448F11,F11-AS1c.1875G>C (p.Val625=)
c.475G>C
c.1713G>C (p.Val571=)
n.394G>C
n.883C>G
c.1878G>C (p.Val626=)
c.1782G>C (p.Val594=)
c.1608G>C (p.Val536=)
c.1830G>C (p.Val610=)
4g.186288611G=CA1519939878F11,F11-AS1c.1875G= (p.Val625=)
c.475G=
c.1713G= (p.Val571=)
n.394G=
n.883C=
c.1878G= (p.Val626=)
c.1782G= (p.Val594=)
c.1608G= (p.Val536=)
c.1830G= (p.Val610=)
4g.186288611G>TCA442641447F11,F11-AS1c.1875G>T (p.Val625=)
c.475G>T
c.1713G>T (p.Val571=)
n.394G>T
n.883C>A
c.1878G>T (p.Val626=)
c.1782G>T (p.Val594=)
c.1608G>T (p.Val536=)
c.1830G>T (p.Val610=)
4g.186288612T>ACA358946420F11,F11-AS1c.1876T>A (p.Ter626Arg)
c.476T>A
c.1714T>A (p.Ter572Arg)
n.395T>A
n.882A>T
c.1879T>A (p.Ter627Arg)
c.1783T>A (p.Ter595Arg)
c.1609T>A (p.Ter537Arg)
c.1831T>A (p.Ter611Arg)
4g.186288612T>CCA358946422F11,F11-AS1c.1876T>C (p.Ter626Arg)
c.476T>C
c.1714T>C (p.Ter572Arg)
n.395T>C
n.882A>G
c.1879T>C (p.Ter627Arg)
c.1783T>C (p.Ter595Arg)
c.1609T>C (p.Ter537Arg)
c.1831T>C (p.Ter611Arg)
 dbSNP
4g.186288612T>GCA358946425F11,F11-AS1c.1876T>G (p.Ter626Gly)
c.476T>G
c.1714T>G (p.Ter572Gly)
n.395T>G
n.882A>C
c.1879T>G (p.Ter627Gly)
c.1783T>G (p.Ter595Gly)
c.1609T>G (p.Ter537Gly)
c.1831T>G (p.Ter611Gly)
4g.186288612T=CA1519939879F11,F11-AS1c.1876T= (p.Ter626=)
c.476T=
c.1714T= (p.Ter572=)
n.395T=
n.882A=
c.1879T= (p.Ter627=)
c.1783T= (p.Ter595=)
c.1609T= (p.Ter537=)
c.1831T= (p.Ter611=)
4g.186288613G>ACA442641449F11,F11-AS1c.1877G>A (p.Ter626=)
c.477G>A
c.1715G>A (p.Ter572=)
n.396G>A
n.881C>T
c.1880G>A (p.Ter627=)
c.1784G>A (p.Ter595=)
c.1610G>A (p.Ter537=)
c.1832G>A (p.Ter611=)
 gnomAD v4
4g.186288613G>CCA358946429F11,F11-AS1c.1877G>C (p.Ter626Ser)
c.477G>C
c.1715G>C (p.Ter572Ser)
n.396G>C
n.881C>G
c.1880G>C (p.Ter627Ser)
c.1784G>C (p.Ter595Ser)
c.1610G>C (p.Ter537Ser)
c.1832G>C (p.Ter611Ser)
4g.186288613G>TCA358946431F11,F11-AS1c.1877G>T (p.Ter626Leu)
c.477G>T
c.1715G>T (p.Ter572Leu)
n.396G>T
n.881C>A
c.1880G>T (p.Ter627Leu)
c.1784G>T (p.Ter595Leu)
c.1610G>T (p.Ter537Leu)
c.1832G>T (p.Ter611Leu)
4g.186288614A>CCA358946438F11,F11-AS1c.1878A>C (p.Ter626Cys)
c.478A>C
c.1716A>C (p.Ter572Cys)
n.397A>C
n.880T>G
c.1881A>C (p.Ter627Cys)
c.1785A>C (p.Ter595Cys)
c.1611A>C (p.Ter537Cys)
c.1833A>C (p.Ter611Cys)
4g.186288614A>GCA358946435F11,F11-AS1c.1878A>G (p.Ter626Trp)
c.478A>G
c.1716A>G (p.Ter572Trp)
n.397A>G
n.880T>C
c.1881A>G (p.Ter627Trp)
c.1785A>G (p.Ter595Trp)
c.1611A>G (p.Ter537Trp)
c.1833A>G (p.Ter611Trp)
4g.186288614A>TCA358946433F11,F11-AS1c.1878A>T (p.Ter626Cys)
c.478A>T
c.1716A>T (p.Ter572Cys)
n.397A>T
n.880T>A
c.1881A>T (p.Ter627Cys)
c.1785A>T (p.Ter595Cys)
c.1611A>T (p.Ter537Cys)
c.1833A>T (p.Ter611Cys)
4g.186288615delCA2573138195F11,F11-AS1c.*1del (n.*1del)
c.479del
n.398del
n.880del
 ClinVar dbSNP
4g.186288615A=CA1519939880F11,F11-AS1c.*1A= (n.*1A=)
c.479A=
n.398A=
n.879T=
4g.186288615A>CCA3164148F11,F11-AS1c.*1A>C (n.*1A>C)
c.479A>C
n.398A>C
n.879T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186288615A>GCA3164147F11,F11-AS1c.*1A>G (n.*1A>G)
c.479A>G
n.398A>G
n.879T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186288615A>TCA442641450F11,F11-AS1c.*1A>T (n.*1A>T)
c.479A>T
n.398A>T
n.879T>A
4g.186288615_186288618delCA2672904187F11,F11-AS1c.*1_*4del (n.*1_*4del)
c.479_482del
n.398_401del
n.876_879del
 gnomAD v4
4g.186288616T>ACA442641453F11,F11-AS1c.*2T>A (n.*2T>A)
c.480T>A
n.399T>A
n.878A>T
 gnomAD v4
4g.186288616T>CCA442641451F11,F11-AS1c.*2T>C (n.*2T>C)
c.480T>C
n.399T>C
n.878A>G
 dbSNP gnomAD v2 gnomAD v4
4g.186288616T>GCA442641452F11,F11-AS1c.*2T>G (n.*2T>G)
c.480T>G
n.399T>G
n.878A>C
4g.186288616T=CA1519939881F11,F11-AS1c.*2T= (n.*2T=)
c.480T=
n.399T=
n.878A=
4g.186288617G>ACA442641454F11,F11-AS1c.*3G>A (n.*3G>A)
c.481G>A
n.400G>A
n.877C>T
4g.186288617G>CCA442641456F11,F11-AS1c.*3G>C (n.*3G>C)
c.481G>C
n.400G>C
n.877C>G
4g.186288617G>TCA442641458F11,F11-AS1c.*3G>T (n.*3G>T)
c.481G>T
n.400G>T
n.877C>A
4g.186288618G>ACA442641459F11,F11-AS1c.*4G>A (n.*4G>A)
c.482G>A
n.401G>A
n.876C>T
4g.186288618G>CCA442641460F11,F11-AS1c.*4G>C (n.*4G>C)
c.482G>C
n.401G>C
n.876C>G
4g.186288618G=CA1519939882F11,F11-AS1c.*4G= (n.*4G=)
c.482G=
n.401G=
n.876C=
4g.186288618G>TCA112106377F11,F11-AS1c.*4G>T (n.*4G>T)
c.482G>T
n.401G>T
n.876C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186288619G>ACA442641462F11,F11-AS1c.*5G>A (n.*5G>A)
c.483G>A
n.402G>A
n.875C>T
4g.186288619G>CCA442641463F11,F11-AS1c.*5G>C (n.*5G>C)
c.483G>C
n.402G>C
n.875C>G
4g.186288619G>TCA442641464F11,F11-AS1c.*5G>T (n.*5G>T)
c.483G>T
n.402G>T
n.875C>A
4g.186288620T>ACA442641465F11,F11-AS1c.*6T>A (n.*6T>A)
c.484T>A
n.403T>A
n.874A>T
4g.186288620T>CCA442641466F11,F11-AS1c.*6T>C (n.*6T>C)
c.484T>C
n.403T>C
n.874A>G
4g.186288620T>GCA442641468F11,F11-AS1c.*6T>G (n.*6T>G)
c.484T>G
n.403T>G
n.874A>C

Number of alleles fetched