Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44254520A=CA2261308257SLC4A1c.2033T= (p.Ile678=)
c.935T= (p.Ile312=)
c.1838T= (p.Ile613=)
c.1943T= (p.Ile648=)
17g.44254520A>CCA399782629SLC4A1c.2033T>G (p.Ile678Arg)
c.935T>G (p.Ile312Arg)
c.1838T>G (p.Ile613Arg)
c.1943T>G (p.Ile648Arg)
17g.44254520A>GCA399782628SLC4A1c.2033T>C (p.Ile678Thr)
c.935T>C (p.Ile312Thr)
c.1838T>C (p.Ile613Thr)
c.1943T>C (p.Ile648Thr)
 dbSNP gnomAD v4
17g.44254520A>TCA399782627SLC4A1c.2033T>A (p.Ile678Lys)
c.935T>A (p.Ile312Lys)
c.1838T>A (p.Ile613Lys)
c.1943T>A (p.Ile648Lys)
17g.44254521T>ACA399782630SLC4A1c.2032A>T (p.Ile678Leu)
c.934A>T (p.Ile312Leu)
c.1837A>T (p.Ile613Leu)
c.1942A>T (p.Ile648Leu)
17g.44254521T>CCA399782631SLC4A1c.2032A>G (p.Ile678Val)
c.934A>G (p.Ile312Val)
c.1837A>G (p.Ile613Val)
c.1942A>G (p.Ile648Val)
 gnomAD v4
17g.44254521T>GCA399782633SLC4A1c.2032A>C (p.Ile678Leu)
c.934A>C (p.Ile312Leu)
c.1837A>C (p.Ile613Leu)
c.1942A>C (p.Ile648Leu)
 gnomAD v4
17g.44254522G>ACA500285338SLC4A1c.2031C>T (p.Leu677=)
c.933C>T (p.Leu311=)
c.1836C>T (p.Leu612=)
c.1941C>T (p.Leu647=)
 COSMIC
17g.44254522G>CCA500285339SLC4A1c.2031C>G (p.Leu677=)
c.933C>G (p.Leu311=)
c.1836C>G (p.Leu612=)
c.1941C>G (p.Leu647=)
17g.44254522G>TCA500285340SLC4A1c.2031C>A (p.Leu677=)
c.933C>A (p.Leu311=)
c.1836C>A (p.Leu612=)
c.1941C>A (p.Leu647=)
17g.44254523A>CCA399782634SLC4A1c.2030T>G (p.Leu677Arg)
c.932T>G (p.Leu311Arg)
c.1835T>G (p.Leu612Arg)
c.1940T>G (p.Leu647Arg)
17g.44254523A>GCA399782635SLC4A1c.2030T>C (p.Leu677Pro)
c.932T>C (p.Leu311Pro)
c.1835T>C (p.Leu612Pro)
c.1940T>C (p.Leu647Pro)
17g.44254523A>TCA399782636SLC4A1c.2030T>A (p.Leu677His)
c.932T>A (p.Leu311His)
c.1835T>A (p.Leu612His)
c.1940T>A (p.Leu647His)
17g.44254524G>ACA8600146SLC4A1c.2029C>T (p.Leu677Phe)
c.931C>T (p.Leu311Phe)
c.1834C>T (p.Leu612Phe)
c.1939C>T (p.Leu647Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254524G>CCA399782637SLC4A1c.2029C>G (p.Leu677Val)
c.931C>G (p.Leu311Val)
c.1834C>G (p.Leu612Val)
c.1939C>G (p.Leu647Val)
17g.44254524G=CA2261308258SLC4A1c.2029C= (p.Leu677=)
c.931C= (p.Leu311=)
c.1834C= (p.Leu612=)
c.1939C= (p.Leu647=)
17g.44254524G>TCA399782638SLC4A1c.2029C>A (p.Leu677Ile)
c.931C>A (p.Leu311Ile)
c.1834C>A (p.Leu612Ile)
c.1939C>A (p.Leu647Ile)
17g.44254525G>ACA500285343SLC4A1c.2028C>T (p.Ile676=)
c.930C>T (p.Ile310=)
c.1833C>T (p.Ile611=)
c.1938C>T (p.Ile646=)
17g.44254525G>CCA399782640SLC4A1c.2028C>G (p.Ile676Met)
c.930C>G (p.Ile310Met)
c.1833C>G (p.Ile611Met)
c.1938C>G (p.Ile646Met)
17g.44254525G>TCA500285348SLC4A1c.2028C>A (p.Ile676=)
c.930C>A (p.Ile310=)
c.1833C>A (p.Ile611=)
c.1938C>A (p.Ile646=)
17g.44254526A>CCA399782641SLC4A1c.2027T>G (p.Ile676Ser)
c.929T>G (p.Ile310Ser)
c.1832T>G (p.Ile611Ser)
c.1937T>G (p.Ile646Ser)
17g.44254526A>GCA399782642SLC4A1c.2027T>C (p.Ile676Thr)
c.929T>C (p.Ile310Thr)
c.1832T>C (p.Ile611Thr)
c.1937T>C (p.Ile646Thr)
17g.44254526A>TCA399782643SLC4A1c.2027T>A (p.Ile676Asn)
c.929T>A (p.Ile310Asn)
c.1832T>A (p.Ile611Asn)
c.1937T>A (p.Ile646Asn)
17g.44254527T>ACA399782646SLC4A1c.2026A>T (p.Ile676Phe)
c.928A>T (p.Ile310Phe)
c.1831A>T (p.Ile611Phe)
c.1936A>T (p.Ile646Phe)
17g.44254527T>CCA399782645SLC4A1c.2026A>G (p.Ile676Val)
c.928A>G (p.Ile310Val)
c.1831A>G (p.Ile611Val)
c.1936A>G (p.Ile646Val)
17g.44254527T>GCA399782644SLC4A1c.2026A>C (p.Ile676Leu)
c.928A>C (p.Ile310Leu)
c.1831A>C (p.Ile611Leu)
c.1936A>C (p.Ile646Leu)
17g.44254527dupCA2697559954SLC4A1c.2026dup (p.Ile676AsnfsTer18)
c.928dup (p.Ile310AsnfsTer18)
c.1831dup (p.Ile611AsnfsTer18)
c.1936dup (p.Ile646AsnfsTer18)
c.2026dup (p.Ile676AsnfsTer?)
 ClinVar
17g.44254528G>ACA500285355SLC4A1c.2025C>T (p.Phe675=)
c.927C>T (p.Phe309=)
c.1830C>T (p.Phe610=)
c.1935C>T (p.Phe645=)
17g.44254528G>CCA399782647SLC4A1c.2025C>G (p.Phe675Leu)
c.927C>G (p.Phe309Leu)
c.1830C>G (p.Phe610Leu)
c.1935C>G (p.Phe645Leu)
17g.44254528G>TCA399782648SLC4A1c.2025C>A (p.Phe675Leu)
c.927C>A (p.Phe309Leu)
c.1830C>A (p.Phe610Leu)
c.1935C>A (p.Phe645Leu)
17g.44254529A>CCA399782650SLC4A1c.2024T>G (p.Phe675Cys)
c.926T>G (p.Phe309Cys)
c.1829T>G (p.Phe610Cys)
c.1934T>G (p.Phe645Cys)
17g.44254529A>GCA399782652SLC4A1c.2024T>C (p.Phe675Ser)
c.926T>C (p.Phe309Ser)
c.1829T>C (p.Phe610Ser)
c.1934T>C (p.Phe645Ser)
17g.44254529A>TCA399782653SLC4A1c.2024T>A (p.Phe675Tyr)
c.926T>A (p.Phe309Tyr)
c.1829T>A (p.Phe610Tyr)
c.1934T>A (p.Phe645Tyr)
17g.44254530A>CCA399782654SLC4A1c.2023T>G (p.Phe675Val)
c.925T>G (p.Phe309Val)
c.1828T>G (p.Phe610Val)
c.1933T>G (p.Phe645Val)
17g.44254530A>GCA399782655SLC4A1c.2023T>C (p.Phe675Leu)
c.925T>C (p.Phe309Leu)
c.1828T>C (p.Phe610Leu)
c.1933T>C (p.Phe645Leu)
17g.44254530A>TCA399782656SLC4A1c.2023T>A (p.Phe675Ile)
c.925T>A (p.Phe309Ile)
c.1828T>A (p.Phe610Ile)
c.1933T>A (p.Phe645Ile)
17g.44254531G>ACA500285357SLC4A1c.2022C>T (p.Val674=)
c.924C>T (p.Val308=)
c.1827C>T (p.Val609=)
c.1932C>T (p.Val644=)
17g.44254531G>CCA500285359SLC4A1c.2022C>G (p.Val674=)
c.924C>G (p.Val308=)
c.1827C>G (p.Val609=)
c.1932C>G (p.Val644=)
17g.44254531G>TCA500285358SLC4A1c.2022C>A (p.Val674=)
c.924C>A (p.Val308=)
c.1827C>A (p.Val609=)
c.1932C>A (p.Val644=)
17g.44254532A>CCA399782657SLC4A1c.2021T>G (p.Val674Gly)
c.923T>G (p.Val308Gly)
c.1826T>G (p.Val609Gly)
c.1931T>G (p.Val644Gly)
17g.44254532A>GCA399782658SLC4A1c.2021T>C (p.Val674Ala)
c.923T>C (p.Val308Ala)
c.1826T>C (p.Val609Ala)
c.1931T>C (p.Val644Ala)
17g.44254532A>TCA399782659SLC4A1c.2021T>A (p.Val674Asp)
c.923T>A (p.Val308Asp)
c.1826T>A (p.Val609Asp)
c.1931T>A (p.Val644Asp)
17g.44254533C>ACA399782660SLC4A1c.2020G>T (p.Val674Phe)
c.922G>T (p.Val308Phe)
c.1825G>T (p.Val609Phe)
c.1930G>T (p.Val644Phe)
17g.44254533C=CA2261308259SLC4A1c.2020G= (p.Val674=)
c.922G= (p.Val308=)
c.1825G= (p.Val609=)
c.1930G= (p.Val644=)
17g.44254533C>GCA399782661SLC4A1c.2020G>C (p.Val674Leu)
c.922G>C (p.Val308Leu)
c.1825G>C (p.Val609Leu)
c.1930G>C (p.Val644Leu)
17g.44254533C>TCA8600147SLC4A1c.2020G>A (p.Val674Ile)
c.922G>A (p.Val308Ile)
c.1825G>A (p.Val609Ile)
c.1930G>A (p.Val644Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254534C>ACA500285363SLC4A1c.2019G>T (p.Leu673=)
c.921G>T (p.Leu307=)
c.1824G>T (p.Leu608=)
c.1929G>T (p.Leu643=)
17g.44254534C=CA2261308260SLC4A1c.2019G= (p.Leu673=)
c.921G= (p.Leu307=)
c.1824G= (p.Leu608=)
c.1929G= (p.Leu643=)
17g.44254534C>GCA500285364SLC4A1c.2019G>C (p.Leu673=)
c.921G>C (p.Leu307=)
c.1824G>C (p.Leu608=)
c.1929G>C (p.Leu643=)
17g.44254534C>TCA500285365SLC4A1c.2019G>A (p.Leu673=)
c.921G>A (p.Leu307=)
c.1824G>A (p.Leu608=)
c.1929G>A (p.Leu643=)
 ClinVar dbSNP gnomAD v4
17g.44254535A>CCA399782664SLC4A1c.2018T>G (p.Leu673Arg)
c.920T>G (p.Leu307Arg)
c.1823T>G (p.Leu608Arg)
c.1928T>G (p.Leu643Arg)
17g.44254535A>GCA399782665SLC4A1c.2018T>C (p.Leu673Pro)
c.920T>C (p.Leu307Pro)
c.1823T>C (p.Leu608Pro)
c.1928T>C (p.Leu643Pro)
 ClinVar dbSNP
17g.44254535A>TCA399782662SLC4A1c.2018T>A (p.Leu673Gln)
c.920T>A (p.Leu307Gln)
c.1823T>A (p.Leu608Gln)
c.1928T>A (p.Leu643Gln)
17g.44254536G>ACA500285368SLC4A1c.2017C>T (p.Leu673=)
c.919C>T (p.Leu307=)
c.1822C>T (p.Leu608=)
c.1927C>T (p.Leu643=)
 gnomAD v4 COSMIC
17g.44254536G>CCA399782666SLC4A1c.2017C>G (p.Leu673Val)
c.919C>G (p.Leu307Val)
c.1822C>G (p.Leu608Val)
c.1927C>G (p.Leu643Val)
17g.44254536G>TCA399782667SLC4A1c.2017C>A (p.Leu673Met)
c.919C>A (p.Leu307Met)
c.1822C>A (p.Leu608Met)
c.1927C>A (p.Leu643Met)
17g.44254537C>ACA500285369SLC4A1c.2016G>T (p.Leu672=)
c.918G>T (p.Leu306=)
c.1821G>T (p.Leu607=)
c.1926G>T (p.Leu642=)
17g.44254537C>GCA500285372SLC4A1c.2016G>C (p.Leu672=)
c.918G>C (p.Leu306=)
c.1821G>C (p.Leu607=)
c.1926G>C (p.Leu642=)
17g.44254537C>TCA500285370SLC4A1c.2016G>A (p.Leu672=)
c.918G>A (p.Leu306=)
c.1821G>A (p.Leu607=)
c.1926G>A (p.Leu642=)
 gnomAD v4
17g.44254538A>CCA399782668SLC4A1c.2015T>G (p.Leu672Arg)
c.917T>G (p.Leu306Arg)
c.1820T>G (p.Leu607Arg)
c.1925T>G (p.Leu642Arg)
17g.44254538A>GCA399782669SLC4A1c.2015T>C (p.Leu672Pro)
c.917T>C (p.Leu306Pro)
c.1820T>C (p.Leu607Pro)
c.1925T>C (p.Leu642Pro)
17g.44254538A>TCA399782670SLC4A1c.2015T>A (p.Leu672Gln)
c.917T>A (p.Leu306Gln)
c.1820T>A (p.Leu607Gln)
c.1925T>A (p.Leu642Gln)
17g.44254539G>ACA500285375SLC4A1c.2014C>T (p.Leu672=)
c.916C>T (p.Leu306=)
c.1819C>T (p.Leu607=)
c.1924C>T (p.Leu642=)
 dbSNP gnomAD v3 gnomAD v4
17g.44254539G>CCA399782671SLC4A1c.2014C>G (p.Leu672Val)
c.916C>G (p.Leu306Val)
c.1819C>G (p.Leu607Val)
c.1924C>G (p.Leu642Val)
17g.44254539G=CA2261308261SLC4A1c.2014C= (p.Leu672=)
c.916C= (p.Leu306=)
c.1819C= (p.Leu607=)
c.1924C= (p.Leu642=)
17g.44254539G>TCA399782673SLC4A1c.2014C>A (p.Leu672Met)
c.916C>A (p.Leu306Met)
c.1819C>A (p.Leu607Met)
c.1924C>A (p.Leu642Met)
17g.44254540A>CCA500285376SLC4A1c.2013T>G (p.Ala671=)
c.915T>G (p.Ala305=)
c.1818T>G (p.Ala606=)
c.1923T>G (p.Ala641=)
17g.44254540A>GCA500285377SLC4A1c.2013T>C (p.Ala671=)
c.915T>C (p.Ala305=)
c.1818T>C (p.Ala606=)
c.1923T>C (p.Ala641=)
17g.44254540A>TCA500285378SLC4A1c.2013T>A (p.Ala671=)
c.915T>A (p.Ala305=)
c.1818T>A (p.Ala606=)
c.1923T>A (p.Ala641=)
 gnomAD v4
17g.44254541G>ACA399782675SLC4A1c.2012C>T (p.Ala671Val)
c.914C>T (p.Ala305Val)
c.1817C>T (p.Ala606Val)
c.1922C>T (p.Ala641Val)
 dbSNP gnomAD v2 gnomAD v4
17g.44254541G>CCA399782677SLC4A1c.2012C>G (p.Ala671Gly)
c.914C>G (p.Ala305Gly)
c.1817C>G (p.Ala606Gly)
c.1922C>G (p.Ala641Gly)
17g.44254541G=CA2261308262SLC4A1c.2012C= (p.Ala671=)
c.914C= (p.Ala305=)
c.1817C= (p.Ala606=)
c.1922C= (p.Ala641=)
17g.44254541G>TCA399782678SLC4A1c.2012C>A (p.Ala671Asp)
c.914C>A (p.Ala305Asp)
c.1817C>A (p.Ala606Asp)
c.1922C>A (p.Ala641Asp)
17g.44254542C>ACA399782681SLC4A1c.2011G>T (p.Ala671Ser)
c.913G>T (p.Ala305Ser)
c.1816G>T (p.Ala606Ser)
c.1921G>T (p.Ala641Ser)
17g.44254542C>GCA399782686SLC4A1c.2011G>C (p.Ala671Pro)
c.913G>C (p.Ala305Pro)
c.1816G>C (p.Ala606Pro)
c.1921G>C (p.Ala641Pro)
 ClinVar
17g.44254542C>TCA399782687SLC4A1c.2011G>A (p.Ala671Thr)
c.913G>A (p.Ala305Thr)
c.1816G>A (p.Ala606Thr)
c.1921G>A (p.Ala641Thr)
 gnomAD v4
17g.44254543A>CCA500285379SLC4A1c.2010T>G (p.Pro670=)
c.912T>G (p.Pro304=)
c.1815T>G (p.Pro605=)
c.1920T>G (p.Pro640=)
17g.44254543A>GCA500285380SLC4A1c.2010T>C (p.Pro670=)
c.912T>C (p.Pro304=)
c.1815T>C (p.Pro605=)
c.1920T>C (p.Pro640=)
17g.44254543A>TCA500285381SLC4A1c.2010T>A (p.Pro670=)
c.912T>A (p.Pro304=)
c.1815T>A (p.Pro605=)
c.1920T>A (p.Pro640=)
17g.44254544G>ACA399782690SLC4A1c.2009C>T (p.Pro670Leu)
c.911C>T (p.Pro304Leu)
c.1814C>T (p.Pro605Leu)
c.1919C>T (p.Pro640Leu)
 gnomAD v4
17g.44254544G>CCA399782688SLC4A1c.2009C>G (p.Pro670Arg)
c.911C>G (p.Pro304Arg)
c.1814C>G (p.Pro605Arg)
c.1919C>G (p.Pro640Arg)
 ClinVar
17g.44254544G>TCA399782689SLC4A1c.2009C>A (p.Pro670His)
c.911C>A (p.Pro304His)
c.1814C>A (p.Pro605His)
c.1919C>A (p.Pro640His)
17g.44254545G>ACA399782691SLC4A1c.2008C>T (p.Pro670Ser)
c.910C>T (p.Pro304Ser)
c.1813C>T (p.Pro605Ser)
c.1918C>T (p.Pro640Ser)
17g.44254545G>CCA290928466SLC4A1c.2008C>G (p.Pro670Ala)
c.910C>G (p.Pro304Ala)
c.1813C>G (p.Pro605Ala)
c.1918C>G (p.Pro640Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44254545G=CA2261308263SLC4A1c.2008C= (p.Pro670=)
c.910C= (p.Pro304=)
c.1813C= (p.Pro605=)
c.1918C= (p.Pro640=)
17g.44254545G>TCA399782692SLC4A1c.2008C>A (p.Pro670Thr)
c.910C>A (p.Pro304Thr)
c.1813C>A (p.Pro605Thr)
c.1918C>A (p.Pro640Thr)
17g.44254546C>ACA500285384SLC4A1c.2007G>T (p.Leu669=)
c.909G>T (p.Leu303=)
c.1812G>T (p.Leu604=)
c.1917G>T (p.Leu639=)
17g.44254546C>GCA500285382SLC4A1c.2007G>C (p.Leu669=)
c.909G>C (p.Leu303=)
c.1812G>C (p.Leu604=)
c.1917G>C (p.Leu639=)
17g.44254546C>TCA500285383SLC4A1c.2007G>A (p.Leu669=)
c.909G>A (p.Leu303=)
c.1812G>A (p.Leu604=)
c.1917G>A (p.Leu639=)
17g.44254547A>CCA399782693SLC4A1c.2006T>G (p.Leu669Arg)
c.908T>G (p.Leu303Arg)
c.1811T>G (p.Leu604Arg)
c.1916T>G (p.Leu639Arg)
17g.44254547A>GCA399782695SLC4A1c.2006T>C (p.Leu669Pro)
c.908T>C (p.Leu303Pro)
c.1811T>C (p.Leu604Pro)
c.1916T>C (p.Leu639Pro)
 gnomAD v4
17g.44254547A>TCA399782697SLC4A1c.2006T>A (p.Leu669Gln)
c.908T>A (p.Leu303Gln)
c.1811T>A (p.Leu604Gln)
c.1916T>A (p.Leu639Gln)
17g.44254548G>ACA500285385SLC4A1c.2005C>T (p.Leu669=)
c.907C>T (p.Leu303=)
c.1810C>T (p.Leu604=)
c.1915C>T (p.Leu639=)
17g.44254548G>CCA399782699SLC4A1c.2005C>G (p.Leu669Val)
c.907C>G (p.Leu303Val)
c.1810C>G (p.Leu604Val)
c.1915C>G (p.Leu639Val)
17g.44254548G>TCA399782701SLC4A1c.2005C>A (p.Leu669Met)
c.907C>A (p.Leu303Met)
c.1810C>A (p.Leu604Met)
c.1915C>A (p.Leu639Met)
17g.44254549G>ACA500285386SLC4A1c.2004C>T (p.Ala668=)
c.906C>T (p.Ala302=)
c.1809C>T (p.Ala603=)
c.1914C>T (p.Ala638=)
17g.44254549G>CCA500285387SLC4A1c.2004C>G (p.Ala668=)
c.906C>G (p.Ala302=)
c.1809C>G (p.Ala603=)
c.1914C>G (p.Ala638=)
17g.44254549G>TCA500285388SLC4A1c.2004C>A (p.Ala668=)
c.906C>A (p.Ala302=)
c.1809C>A (p.Ala603=)
c.1914C>A (p.Ala638=)
17g.44254550G>ACA399782702SLC4A1c.2003C>T (p.Ala668Val)
c.905C>T (p.Ala302Val)
c.1808C>T (p.Ala603Val)
c.1913C>T (p.Ala638Val)
 dbSNP gnomAD v4
17g.44254550G>CCA399782705SLC4A1c.2003C>G (p.Ala668Gly)
c.905C>G (p.Ala302Gly)
c.1808C>G (p.Ala603Gly)
c.1913C>G (p.Ala638Gly)
 gnomAD v4
17g.44254550G=CA2261308264SLC4A1c.2003C= (p.Ala668=)
c.905C= (p.Ala302=)
c.1808C= (p.Ala603=)
c.1913C= (p.Ala638=)
17g.44254550G>TCA399782708SLC4A1c.2003C>A (p.Ala668Asp)
c.905C>A (p.Ala302Asp)
c.1808C>A (p.Ala603Asp)
c.1913C>A (p.Ala638Asp)
17g.44254551C>ACA399782712SLC4A1c.2002G>T (p.Ala668Ser)
c.904G>T (p.Ala302Ser)
c.1807G>T (p.Ala603Ser)
c.1912G>T (p.Ala638Ser)
 ClinVar gnomAD v4
17g.44254551C=CA2261308265SLC4A1c.2002G= (p.Ala668=)
c.904G= (p.Ala302=)
c.1807G= (p.Ala603=)
c.1912G= (p.Ala638=)
17g.44254551C>GCA399782727SLC4A1c.2002G>C (p.Ala668Pro)
c.904G>C (p.Ala302Pro)
c.1807G>C (p.Ala603Pro)
c.1912G>C (p.Ala638Pro)
17g.44254551C>TCA8600148SLC4A1c.2002G>A (p.Ala668Thr)
c.904G>A (p.Ala302Thr)
c.1807G>A (p.Ala603Thr)
c.1912G>A (p.Ala638Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254552G>ACA8600149SLC4A1c.2001C>T (p.Ser667=)
c.903C>T (p.Ser301=)
c.1806C>T (p.Ser602=)
c.1911C>T (p.Ser637=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254552G>CCA500285389SLC4A1c.2001C>G (p.Ser667=)
c.903C>G (p.Ser301=)
c.1806C>G (p.Ser602=)
c.1911C>G (p.Ser637=)
17g.44254552G=CA2261308266SLC4A1c.2001C= (p.Ser667=)
c.903C= (p.Ser301=)
c.1806C= (p.Ser602=)
c.1911C= (p.Ser637=)
17g.44254552G>TCA500285390SLC4A1c.2001C>A (p.Ser667=)
c.903C>A (p.Ser301=)
c.1806C>A (p.Ser602=)
c.1911C>A (p.Ser637=)
 gnomAD v4
17g.44254553G>ACA399782731SLC4A1c.2000C>T (p.Ser667Phe)
c.902C>T (p.Ser301Phe)
c.1805C>T (p.Ser602Phe)
c.1910C>T (p.Ser637Phe)
 gnomAD v4
17g.44254553G>CCA399782730SLC4A1c.2000C>G (p.Ser667Cys)
c.902C>G (p.Ser301Cys)
c.1805C>G (p.Ser602Cys)
c.1910C>G (p.Ser637Cys)
17g.44254553G>TCA399782732SLC4A1c.2000C>A (p.Ser667Tyr)
c.902C>A (p.Ser301Tyr)
c.1805C>A (p.Ser602Tyr)
c.1910C>A (p.Ser637Tyr)
 ClinVar
17g.44254554A=CA2261308267SLC4A1c.1999T= (p.Ser667=)
c.901T= (p.Ser301=)
c.1804T= (p.Ser602=)
c.1909T= (p.Ser637=)
17g.44254554A>CCA399782733SLC4A1c.1999T>G (p.Ser667Ala)
c.901T>G (p.Ser301Ala)
c.1804T>G (p.Ser602Ala)
c.1909T>G (p.Ser637Ala)
17g.44254554A>GCA399782734SLC4A1c.1999T>C (p.Ser667Pro)
c.901T>C (p.Ser301Pro)
c.1804T>C (p.Ser602Pro)
c.1909T>C (p.Ser637Pro)
 gnomAD v4
17g.44254554A>TCA8600150SLC4A1c.1999T>A (p.Ser667Thr)
c.901T>A (p.Ser301Thr)
c.1804T>A (p.Ser602Thr)
c.1909T>A (p.Ser637Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254555G>ACA500285394SLC4A1c.1998C>T (p.Ala666=)
c.900C>T (p.Ala300=)
c.1803C>T (p.Ala601=)
c.1908C>T (p.Ala636=)
 dbSNP gnomAD v2 gnomAD v4
17g.44254555G>CCA500285395SLC4A1c.1998C>G (p.Ala666=)
c.900C>G (p.Ala300=)
c.1803C>G (p.Ala601=)
c.1908C>G (p.Ala636=)
17g.44254555G=CA2261308268SLC4A1c.1998C= (p.Ala666=)
c.900C= (p.Ala300=)
c.1803C= (p.Ala601=)
c.1908C= (p.Ala636=)
17g.44254555G>TCA500285397SLC4A1c.1998C>A (p.Ala666=)
c.900C>A (p.Ala300=)
c.1803C>A (p.Ala601=)
c.1908C>A (p.Ala636=)
 dbSNP gnomAD v3 gnomAD v4
17g.44254556G>ACA399782735SLC4A1c.1997C>T (p.Ala666Val)
c.899C>T (p.Ala300Val)
c.1802C>T (p.Ala601Val)
c.1907C>T (p.Ala636Val)
17g.44254556G>CCA399782736SLC4A1c.1997C>G (p.Ala666Gly)
c.899C>G (p.Ala300Gly)
c.1802C>G (p.Ala601Gly)
c.1907C>G (p.Ala636Gly)
17g.44254556G>TCA399782738SLC4A1c.1997C>A (p.Ala666Asp)
c.899C>A (p.Ala300Asp)
c.1802C>A (p.Ala601Asp)
c.1907C>A (p.Ala636Asp)
17g.44254557C>ACA399782743SLC4A1c.1996G>T (p.Ala666Ser)
c.898G>T (p.Ala300Ser)
c.1801G>T (p.Ala601Ser)
c.1906G>T (p.Ala636Ser)
17g.44254557C>GCA399782741SLC4A1c.1996G>C (p.Ala666Pro)
c.898G>C (p.Ala300Pro)
c.1801G>C (p.Ala601Pro)
c.1906G>C (p.Ala636Pro)
17g.44254557C>TCA399782742SLC4A1c.1996G>A (p.Ala666Thr)
c.898G>A (p.Ala300Thr)
c.1801G>A (p.Ala601Thr)
c.1906G>A (p.Ala636Thr)
17g.44254558A>CCA399782744SLC4A1c.1995T>G (p.Phe665Leu)
c.897T>G (p.Phe299Leu)
c.1800T>G (p.Phe600Leu)
c.1905T>G (p.Phe635Leu)
17g.44254558A>GCA500285500SLC4A1c.1995T>C (p.Phe665=)
c.897T>C (p.Phe299=)
c.1800T>C (p.Phe600=)
c.1905T>C (p.Phe635=)
17g.44254558A>TCA399782745SLC4A1c.1995T>A (p.Phe665Leu)
c.897T>A (p.Phe299Leu)
c.1800T>A (p.Phe600Leu)
c.1905T>A (p.Phe635Leu)
17g.44254558_44254561delinsAAACCA2261308269SLC4A1c.1992_1995delinsGTTT (p.Met664=)
c.894_897delinsGTTT (p.Met298=)
c.1797_1800delinsGTTT (p.Met599=)
c.1902_1905delinsGTTT (p.Met634=)
17g.44254559A>CCA399782746SLC4A1c.1994T>G (p.Phe665Cys)
c.896T>G (p.Phe299Cys)
c.1799T>G (p.Phe600Cys)
c.1904T>G (p.Phe635Cys)
17g.44254559A>GCA399782747SLC4A1c.1994T>C (p.Phe665Ser)
c.896T>C (p.Phe299Ser)
c.1799T>C (p.Phe600Ser)
c.1904T>C (p.Phe635Ser)
17g.44254559A>TCA399782748SLC4A1c.1994T>A (p.Phe665Tyr)
c.896T>A (p.Phe299Tyr)
c.1799T>A (p.Phe600Tyr)
c.1904T>A (p.Phe635Tyr)
17g.44254560_44254562delCA2261308270SLC4A1c.1992_1994del (p.Met664_Phe665delinsIle)
c.894_896del (p.Met298_Phe299delinsIle)
c.1797_1799del (p.Met599_Phe600delinsIle)
c.1902_1904del (p.Met634_Phe635delinsIle)
 dbSNP
17g.44254560A=CA2261308271SLC4A1c.1993T= (p.Phe665=)
c.895T= (p.Phe299=)
c.1798T= (p.Phe600=)
c.1903T= (p.Phe635=)
17g.44254560A>CCA399782752SLC4A1c.1993T>G (p.Phe665Val)
c.895T>G (p.Phe299Val)
c.1798T>G (p.Phe600Val)
c.1903T>G (p.Phe635Val)
17g.44254560A>GCA399782749SLC4A1c.1993T>C (p.Phe665Leu)
c.895T>C (p.Phe299Leu)
c.1798T>C (p.Phe600Leu)
c.1903T>C (p.Phe635Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.44254560A>TCA399782751SLC4A1c.1993T>A (p.Phe665Ile)
c.895T>A (p.Phe299Ile)
c.1798T>A (p.Phe600Ile)
c.1903T>A (p.Phe635Ile)
17g.44254561C>ACA399782755SLC4A1c.1992G>T (p.Met664Ile)
c.894G>T (p.Met298Ile)
c.1797G>T (p.Met599Ile)
c.1902G>T (p.Met634Ile)
17g.44254561C>GCA399782759SLC4A1c.1992G>C (p.Met664Ile)
c.894G>C (p.Met298Ile)
c.1797G>C (p.Met599Ile)
c.1902G>C (p.Met634Ile)
17g.44254561C>TCA399782761SLC4A1c.1992G>A (p.Met664Ile)
c.894G>A (p.Met298Ile)
c.1797G>A (p.Met599Ile)
c.1902G>A (p.Met634Ile)
17g.44254565_44254567delCA2580613150SLC4A1c.1990_1992del (p.Met664del)
c.892_894del (p.Met298del)
c.1795_1797del (p.Met599del)
c.1900_1902del (p.Met634del)
 ClinVar gnomAD v4
17g.44254562A>CCA399782764SLC4A1c.1991T>G (p.Met664Arg)
c.893T>G (p.Met298Arg)
c.1796T>G (p.Met599Arg)
c.1901T>G (p.Met634Arg)
17g.44254562A>GCA399782765SLC4A1c.1991T>C (p.Met664Thr)
c.893T>C (p.Met298Thr)
c.1796T>C (p.Met599Thr)
c.1901T>C (p.Met634Thr)
17g.44254562A>TCA399782766SLC4A1c.1991T>A (p.Met664Lys)
c.893T>A (p.Met298Lys)
c.1796T>A (p.Met599Lys)
c.1901T>A (p.Met634Lys)
17g.44254563T>ACA399782767SLC4A1c.1990A>T (p.Met664Leu)
c.892A>T (p.Met298Leu)
c.1795A>T (p.Met599Leu)
c.1900A>T (p.Met634Leu)
17g.44254563T>CCA399782771SLC4A1c.1990A>G (p.Met664Val)
c.892A>G (p.Met298Val)
c.1795A>G (p.Met599Val)
c.1900A>G (p.Met634Val)
17g.44254563T>GCA399782773SLC4A1c.1990A>C (p.Met664Leu)
c.892A>C (p.Met298Leu)
c.1795A>C (p.Met599Leu)
c.1900A>C (p.Met634Leu)
17g.44254564delCA2695226322SLC4A1c.1989del (p.Met663IlefsTer25)
c.891del (p.Met297IlefsTer25)
c.1794del (p.Met598IlefsTer25)
c.1899del (p.Met633IlefsTer25)
c.1989del (p.Met663IlefsTer?)
17g.44254564C>ACA399782782SLC4A1c.1989G>T (p.Met663Ile)
c.891G>T (p.Met297Ile)
c.1794G>T (p.Met598Ile)
c.1899G>T (p.Met633Ile)
17g.44254564C>GCA399782783SLC4A1c.1989G>C (p.Met663Ile)
c.891G>C (p.Met297Ile)
c.1794G>C (p.Met598Ile)
c.1899G>C (p.Met633Ile)
17g.44254564C>TCA399782784SLC4A1c.1989G>A (p.Met663Ile)
c.891G>A (p.Met297Ile)
c.1794G>A (p.Met598Ile)
c.1899G>A (p.Met633Ile)
17g.44254565A>CCA399782785SLC4A1c.1988T>G (p.Met663Arg)
c.890T>G (p.Met297Arg)
c.1793T>G (p.Met598Arg)
c.1898T>G (p.Met633Arg)
17g.44254565A>GCA399782787SLC4A1c.1988T>C (p.Met663Thr)
c.890T>C (p.Met297Thr)
c.1793T>C (p.Met598Thr)
c.1898T>C (p.Met633Thr)
17g.44254565A>TCA399782786SLC4A1c.1988T>A (p.Met663Lys)
c.890T>A (p.Met297Lys)
c.1793T>A (p.Met598Lys)
c.1898T>A (p.Met633Lys)
17g.44254566T>ACA399782790SLC4A1c.1987A>T (p.Met663Leu)
c.889A>T (p.Met297Leu)
c.1792A>T (p.Met598Leu)
c.1897A>T (p.Met633Leu)
17g.44254566T>CCA399782792SLC4A1c.1987A>G (p.Met663Val)
c.889A>G (p.Met297Val)
c.1792A>G (p.Met598Val)
c.1897A>G (p.Met633Val)
17g.44254566T>GCA399782795SLC4A1c.1987A>C (p.Met663Leu)
c.889A>C (p.Met297Leu)
c.1792A>C (p.Met598Leu)
c.1897A>C (p.Met633Leu)
17g.44254567C>ACA399782796SLC4A1c.1986G>T (p.Trp662Cys)
c.888G>T (p.Trp296Cys)
c.1791G>T (p.Trp597Cys)
c.1896G>T (p.Trp632Cys)
 ClinVar
17g.44254567C>GCA399782797SLC4A1c.1986G>C (p.Trp662Cys)
c.888G>C (p.Trp296Cys)
c.1791G>C (p.Trp597Cys)
c.1896G>C (p.Trp632Cys)
17g.44254567C>TCA399782798SLC4A1c.1986G>A (p.Trp662Ter)
c.888G>A (p.Trp296Ter)
c.1791G>A (p.Trp597Ter)
c.1896G>A (p.Trp632Ter)
 COSMIC
17g.44254568C>ACA399782800SLC4A1c.1985G>T (p.Trp662Leu)
c.887G>T (p.Trp296Leu)
c.1790G>T (p.Trp597Leu)
c.1895G>T (p.Trp632Leu)
17g.44254568C>GCA399782803SLC4A1c.1985G>C (p.Trp662Ser)
c.887G>C (p.Trp296Ser)
c.1790G>C (p.Trp597Ser)
c.1895G>C (p.Trp632Ser)
17g.44254568C>TCA399782807SLC4A1c.1985G>A (p.Trp662Ter)
c.887G>A (p.Trp296Ter)
c.1790G>A (p.Trp597Ter)
c.1895G>A (p.Trp632Ter)
17g.44254569A>CCA399782811SLC4A1c.1984T>G (p.Trp662Gly)
c.886T>G (p.Trp296Gly)
c.1789T>G (p.Trp597Gly)
c.1894T>G (p.Trp632Gly)
17g.44254569A>GCA399782816SLC4A1c.1984T>C (p.Trp662Arg)
c.886T>C (p.Trp296Arg)
c.1789T>C (p.Trp597Arg)
c.1894T>C (p.Trp632Arg)
17g.44254569A>TCA399782818SLC4A1c.1984T>A (p.Trp662Arg)
c.886T>A (p.Trp296Arg)
c.1789T>A (p.Trp597Arg)
c.1894T>A (p.Trp632Arg)
17g.44254570G>ACA500285541SLC4A1c.1983C>T (p.Ile661=)
c.885C>T (p.Ile295=)
c.1788C>T (p.Ile596=)
c.1893C>T (p.Ile631=)
17g.44254570G>CCA399782828SLC4A1c.1983C>G (p.Ile661Met)
c.885C>G (p.Ile295Met)
c.1788C>G (p.Ile596Met)
c.1893C>G (p.Ile631Met)
17g.44254570G=CA2261308272SLC4A1c.1983C= (p.Ile661=)
c.885C= (p.Ile295=)
c.1788C= (p.Ile596=)
c.1893C= (p.Ile631=)
17g.44254570G>TCA8600151SLC4A1c.1983C>A (p.Ile661=)
c.885C>A (p.Ile295=)
c.1788C>A (p.Ile596=)
c.1893C>A (p.Ile631=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254571A=CA2261308273SLC4A1c.1982T= (p.Ile661=)
c.884T= (p.Ile295=)
c.1787T= (p.Ile596=)
c.1892T= (p.Ile631=)
17g.44254571A>CCA399782831SLC4A1c.1982T>G (p.Ile661Ser)
c.884T>G (p.Ile295Ser)
c.1787T>G (p.Ile596Ser)
c.1892T>G (p.Ile631Ser)
17g.44254571A>GCA8600152SLC4A1c.1982T>C (p.Ile661Thr)
c.884T>C (p.Ile295Thr)
c.1787T>C (p.Ile596Thr)
c.1892T>C (p.Ile631Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254571A>TCA399782837SLC4A1c.1982T>A (p.Ile661Asn)
c.884T>A (p.Ile295Asn)
c.1787T>A (p.Ile596Asn)
c.1892T>A (p.Ile631Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.44254572T>ACA399782838SLC4A1c.1981A>T (p.Ile661Phe)
c.883A>T (p.Ile295Phe)
c.1786A>T (p.Ile596Phe)
c.1891A>T (p.Ile631Phe)
17g.44254572T>CCA399782840SLC4A1c.1981A>G (p.Ile661Val)
c.883A>G (p.Ile295Val)
c.1786A>G (p.Ile596Val)
c.1891A>G (p.Ile631Val)
17g.44254572T>GCA399782843SLC4A1c.1981A>C (p.Ile661Leu)
c.883A>C (p.Ile295Leu)
c.1786A>C (p.Ile596Leu)
c.1891A>C (p.Ile631Leu)
17g.44254573G>ACA8600153SLC4A1c.1980C>T (p.Pro660=)
c.882C>T (p.Pro294=)
c.1785C>T (p.Pro595=)
c.1890C>T (p.Pro630=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254573G>CCA500285553SLC4A1c.1980C>G (p.Pro660=)
c.882C>G (p.Pro294=)
c.1785C>G (p.Pro595=)
c.1890C>G (p.Pro630=)
17g.44254573G=CA2261308274SLC4A1c.1980C= (p.Pro660=)
c.882C= (p.Pro294=)
c.1785C= (p.Pro595=)
c.1890C= (p.Pro630=)
17g.44254573G>TCA500285559SLC4A1c.1980C>A (p.Pro660=)
c.882C>A (p.Pro294=)
c.1785C>A (p.Pro595=)
c.1890C>A (p.Pro630=)
17g.44254574G>ACA399782852SLC4A1c.1979C>T (p.Pro660Leu)
c.881C>T (p.Pro294Leu)
c.1784C>T (p.Pro595Leu)
c.1889C>T (p.Pro630Leu)
17g.44254574G>CCA399782857SLC4A1c.1979C>G (p.Pro660Arg)
c.881C>G (p.Pro294Arg)
c.1784C>G (p.Pro595Arg)
c.1889C>G (p.Pro630Arg)
17g.44254574G>TCA399782872SLC4A1c.1979C>A (p.Pro660His)
c.881C>A (p.Pro294His)
c.1784C>A (p.Pro595His)
c.1889C>A (p.Pro630His)
17g.44254578_44254585delCA2697559955SLC4A1c.1972_1979del (p.Glu658HisfsTer?)
c.874_881del (p.Glu292HisfsTer?)
c.1777_1784del (p.Glu593HisfsTer?)
c.1882_1889del (p.Glu628HisfsTer?)
 ClinVar
17g.44254575G>ACA399782880SLC4A1c.1978C>T (p.Pro660Ser)
c.880C>T (p.Pro294Ser)
c.1783C>T (p.Pro595Ser)
c.1888C>T (p.Pro630Ser)
17g.44254575G>CCA399782881SLC4A1c.1978C>G (p.Pro660Ala)
c.880C>G (p.Pro294Ala)
c.1783C>G (p.Pro595Ala)
c.1888C>G (p.Pro630Ala)
17g.44254575G>TCA399782883SLC4A1c.1978C>A (p.Pro660Thr)
c.880C>A (p.Pro294Thr)
c.1783C>A (p.Pro595Thr)
c.1888C>A (p.Pro630Thr)
17g.44254576A>CCA399782885SLC4A1c.1977T>G (p.Phe659Leu)
c.879T>G (p.Phe293Leu)
c.1782T>G (p.Phe594Leu)
c.1887T>G (p.Phe629Leu)
17g.44254576A>GCA500285564SLC4A1c.1977T>C (p.Phe659=)
c.879T>C (p.Phe293=)
c.1782T>C (p.Phe594=)
c.1887T>C (p.Phe629=)
 gnomAD v4
17g.44254576A>TCA399782887SLC4A1c.1977T>A (p.Phe659Leu)
c.879T>A (p.Phe293Leu)
c.1782T>A (p.Phe594Leu)
c.1887T>A (p.Phe629Leu)
17g.44254577A>CCA399782891SLC4A1c.1976T>G (p.Phe659Cys)
c.878T>G (p.Phe293Cys)
c.1781T>G (p.Phe594Cys)
c.1886T>G (p.Phe629Cys)
17g.44254577A>GCA399782897SLC4A1c.1976T>C (p.Phe659Ser)
c.878T>C (p.Phe293Ser)
c.1781T>C (p.Phe594Ser)
c.1886T>C (p.Phe629Ser)
17g.44254577A>TCA399782894SLC4A1c.1976T>A (p.Phe659Tyr)
c.878T>A (p.Phe293Tyr)
c.1781T>A (p.Phe594Tyr)
c.1886T>A (p.Phe629Tyr)
17g.44254580_44254586delCA2739267570SLC4A1c.1970_1976del (p.Ser657PhefsTer5)
c.872_878del (p.Ser291PhefsTer5)
c.1775_1781del (p.Ser592PhefsTer5)
c.1880_1886del (p.Ser627PhefsTer5)
 ClinVar
17g.44254578A>CCA399782902SLC4A1c.1975T>G (p.Phe659Val)
c.877T>G (p.Phe293Val)
c.1780T>G (p.Phe594Val)
c.1885T>G (p.Phe629Val)
17g.44254578A>GCA399782907SLC4A1c.1975T>C (p.Phe659Leu)
c.877T>C (p.Phe293Leu)
c.1780T>C (p.Phe594Leu)
c.1885T>C (p.Phe629Leu)
17g.44254578A>TCA399782910SLC4A1c.1975T>A (p.Phe659Ile)
c.877T>A (p.Phe293Ile)
c.1780T>A (p.Phe594Ile)
c.1885T>A (p.Phe629Ile)
17g.44254579C>ACA399782914SLC4A1c.1974G>T (p.Glu658Asp)
c.876G>T (p.Glu292Asp)
c.1779G>T (p.Glu593Asp)
c.1884G>T (p.Glu628Asp)
17g.44254579C=CA2261308275SLC4A1c.1974G= (p.Glu658=)
c.876G= (p.Glu292=)
c.1779G= (p.Glu593=)
c.1884G= (p.Glu628=)
17g.44254579C>GCA399782916SLC4A1c.1974G>C (p.Glu658Asp)
c.876G>C (p.Glu292Asp)
c.1779G>C (p.Glu593Asp)
c.1884G>C (p.Glu628Asp)
17g.44254579C>TCA8600154SLC4A1c.1974G>A (p.Glu658=)
c.876G>A (p.Glu292=)
c.1779G>A (p.Glu593=)
c.1884G>A (p.Glu628=)
 dbSNP ExAC gnomAD v4
17g.44254580T>ACA399782929SLC4A1c.1973A>T (p.Glu658Val)
c.875A>T (p.Glu292Val)
c.1778A>T (p.Glu593Val)
c.1883A>T (p.Glu628Val)
17g.44254580T>CCA399782933SLC4A1c.1973A>G (p.Glu658Gly)
c.875A>G (p.Glu292Gly)
c.1778A>G (p.Glu593Gly)
c.1883A>G (p.Glu628Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.44254580T>GCA399782935SLC4A1c.1973A>C (p.Glu658Ala)
c.875A>C (p.Glu292Ala)
c.1778A>C (p.Glu593Ala)
c.1883A>C (p.Glu628Ala)
17g.44254580T=CA2261308276SLC4A1c.1973A= (p.Glu658=)
c.875A= (p.Glu292=)
c.1778A= (p.Glu593=)
c.1883A= (p.Glu628=)
17g.44254581C>ACA399782942SLC4A1c.1972G>T (p.Glu658Ter)
c.874G>T (p.Glu292Ter)
c.1777G>T (p.Glu593Ter)
c.1882G>T (p.Glu628Ter)
17g.44254581C=CA2261308277SLC4A1c.1972G= (p.Glu658=)
c.874G= (p.Glu292=)
c.1777G= (p.Glu593=)
c.1882G= (p.Glu628=)
17g.44254581C>GCA8600155SLC4A1c.1972G>C (p.Glu658Gln)
c.874G>C (p.Glu292Gln)
c.1777G>C (p.Glu593Gln)
c.1882G>C (p.Glu628Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254581C>TCA127380SLC4A1c.1972G>A (p.Glu658Lys)
c.874G>A (p.Glu292Lys)
c.1777G>A (p.Glu593Lys)
c.1882G>A (p.Glu628Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.44254582G>ACA8600156SLC4A1c.1971C>T (p.Ser657=)
c.873C>T (p.Ser291=)
c.1776C>T (p.Ser592=)
c.1881C>T (p.Ser627=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254582G>CCA500285582SLC4A1c.1971C>G (p.Ser657=)
c.873C>G (p.Ser291=)
c.1776C>G (p.Ser592=)
c.1881C>G (p.Ser627=)
 dbSNP gnomAD v2
17g.44254582G=CA2261308278SLC4A1c.1971C= (p.Ser657=)
c.873C= (p.Ser291=)
c.1776C= (p.Ser592=)
c.1881C= (p.Ser627=)
17g.44254582G>TCA500285583SLC4A1c.1971C>A (p.Ser657=)
c.873C>A (p.Ser291=)
c.1776C>A (p.Ser592=)
c.1881C>A (p.Ser627=)
17g.44254583G>ACA399782964SLC4A1c.1970C>T (p.Ser657Phe)
c.872C>T (p.Ser291Phe)
c.1775C>T (p.Ser592Phe)
c.1880C>T (p.Ser627Phe)
17g.44254583G>CCA399782968SLC4A1c.1970C>G (p.Ser657Cys)
c.872C>G (p.Ser291Cys)
c.1775C>G (p.Ser592Cys)
c.1880C>G (p.Ser627Cys)
17g.44254583G>TCA399782972SLC4A1c.1970C>A (p.Ser657Tyr)
c.872C>A (p.Ser291Tyr)
c.1775C>A (p.Ser592Tyr)
c.1880C>A (p.Ser627Tyr)
17g.44254584A=CA2261308279SLC4A1c.1969T= (p.Ser657=)
c.871T= (p.Ser291=)
c.1774T= (p.Ser592=)
c.1879T= (p.Ser627=)
17g.44254584A>CCA399782973SLC4A1c.1969T>G (p.Ser657Ala)
c.871T>G (p.Ser291Ala)
c.1774T>G (p.Ser592Ala)
c.1879T>G (p.Ser627Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.44254584A>GCA399782974SLC4A1c.1969T>C (p.Ser657Pro)
c.871T>C (p.Ser291Pro)
c.1774T>C (p.Ser592Pro)
c.1879T>C (p.Ser627Pro)
17g.44254584A>TCA399782977SLC4A1c.1969T>A (p.Ser657Thr)
c.871T>A (p.Ser291Thr)
c.1774T>A (p.Ser592Thr)
c.1879T>A (p.Ser627Thr)
 ClinVar
17g.44254585A>CCA500285592SLC4A1c.1968T>G (p.Arg656=)
c.870T>G (p.Arg290=)
c.1773T>G (p.Arg591=)
c.1878T>G (p.Arg626=)
17g.44254585A>GCA500285596SLC4A1c.1968T>C (p.Arg656=)
c.870T>C (p.Arg290=)
c.1773T>C (p.Arg591=)
c.1878T>C (p.Arg626=)
17g.44254585A>TCA500285598SLC4A1c.1968T>A (p.Arg656=)
c.870T>A (p.Arg290=)
c.1773T>A (p.Arg591=)
c.1878T>A (p.Arg626=)
17g.44254586C>ACA399782980SLC4A1c.1967G>T (p.Arg656Leu)
c.869G>T (p.Arg290Leu)
c.1772G>T (p.Arg591Leu)
c.1877G>T (p.Arg626Leu)
17g.44254586C=CA2261308280SLC4A1c.1967G= (p.Arg656=)
c.869G= (p.Arg290=)
c.1772G= (p.Arg591=)
c.1877G= (p.Arg626=)
17g.44254586C>GCA399782983SLC4A1c.1967G>C (p.Arg656Pro)
c.869G>C (p.Arg290Pro)
c.1772G>C (p.Arg591Pro)
c.1877G>C (p.Arg626Pro)
 ClinVar
17g.44254586C>TCA8600157SLC4A1c.1967G>A (p.Arg656His)
c.869G>A (p.Arg290His)
c.1772G>A (p.Arg591His)
c.1877G>A (p.Arg626His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254587G>ACA8600158SLC4A1c.1966C>T (p.Arg656Cys)
c.868C>T (p.Arg290Cys)
c.1771C>T (p.Arg591Cys)
c.1876C>T (p.Arg626Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254587G>CCA399783010SLC4A1c.1966C>G (p.Arg656Gly)
c.868C>G (p.Arg290Gly)
c.1771C>G (p.Arg591Gly)
c.1876C>G (p.Arg626Gly)
17g.44254587G=CA2261308281SLC4A1c.1966C= (p.Arg656=)
c.868C= (p.Arg290=)
c.1771C= (p.Arg591=)
c.1876C= (p.Arg626=)
17g.44254587G>TCA399783020SLC4A1c.1966C>A (p.Arg656Ser)
c.868C>A (p.Arg290Ser)
c.1771C>A (p.Arg591Ser)
c.1876C>A (p.Arg626Ser)
 gnomAD v4
17g.44254588C>ACA399783028SLC4A1c.1965G>T (p.Leu655Phe)
c.867G>T (p.Leu289Phe)
c.1770G>T (p.Leu590Phe)
c.1875G>T (p.Leu625Phe)
17g.44254588C>GCA399783026SLC4A1c.1965G>C (p.Leu655Phe)
c.867G>C (p.Leu289Phe)
c.1770G>C (p.Leu590Phe)
c.1875G>C (p.Leu625Phe)
17g.44254588C>TCA500285609SLC4A1c.1965G>A (p.Leu655=)
c.867G>A (p.Leu289=)
c.1770G>A (p.Leu590=)
c.1875G>A (p.Leu625=)
17g.44254589A>CCA399783032SLC4A1c.1964T>G (p.Leu655Trp)
c.866T>G (p.Leu289Trp)
c.1769T>G (p.Leu590Trp)
c.1874T>G (p.Leu625Trp)
17g.44254589A>GCA399783044SLC4A1c.1964T>C (p.Leu655Ser)
c.866T>C (p.Leu289Ser)
c.1769T>C (p.Leu590Ser)
c.1874T>C (p.Leu625Ser)
17g.44254589A>TCA399783048SLC4A1c.1964T>A (p.Leu655Ter)
c.866T>A (p.Leu289Ter)
c.1769T>A (p.Leu590Ter)
c.1874T>A (p.Leu625Ter)
17g.44254590A>CCA399783050SLC4A1c.1963T>G (p.Leu655Val)
c.865T>G (p.Leu289Val)
c.1768T>G (p.Leu590Val)
c.1873T>G (p.Leu625Val)
17g.44254590A>GCA500285617SLC4A1c.1963T>C (p.Leu655=)
c.865T>C (p.Leu289=)
c.1768T>C (p.Leu590=)
c.1873T>C (p.Leu625=)
17g.44254590A>TCA399783051SLC4A1c.1963T>A (p.Leu655Met)
c.865T>A (p.Leu289Met)
c.1768T>A (p.Leu590Met)
c.1873T>A (p.Leu625Met)
17g.44254591G>ACA500285619SLC4A1c.1962C>T (p.Gly654=)
c.864C>T (p.Gly288=)
c.1767C>T (p.Gly589=)
c.1872C>T (p.Gly624=)
 gnomAD v4
17g.44254591G>CCA500285620SLC4A1c.1962C>G (p.Gly654=)
c.864C>G (p.Gly288=)
c.1767C>G (p.Gly589=)
c.1872C>G (p.Gly624=)
17g.44254591G>TCA500285622SLC4A1c.1962C>A (p.Gly654=)
c.864C>A (p.Gly288=)
c.1767C>A (p.Gly589=)
c.1872C>A (p.Gly624=)
17g.44254592C>ACA399783061SLC4A1c.1961G>T (p.Gly654Val)
c.863G>T (p.Gly288Val)
c.1766G>T (p.Gly589Val)
c.1871G>T (p.Gly624Val)
17g.44254592C>GCA399783064SLC4A1c.1961G>C (p.Gly654Ala)
c.863G>C (p.Gly288Ala)
c.1766G>C (p.Gly589Ala)
c.1871G>C (p.Gly624Ala)
17g.44254592C>TCA399783073SLC4A1c.1961G>A (p.Gly654Asp)
c.863G>A (p.Gly288Asp)
c.1766G>A (p.Gly589Asp)
c.1871G>A (p.Gly624Asp)
 gnomAD v4
17g.44254593C>ACA399783076SLC4A1c.1960G>T (p.Gly654Cys)
c.862G>T (p.Gly288Cys)
c.1765G>T (p.Gly589Cys)
c.1870G>T (p.Gly624Cys)
17g.44254593C>GCA399783078SLC4A1c.1960G>C (p.Gly654Arg)
c.862G>C (p.Gly288Arg)
c.1765G>C (p.Gly589Arg)
c.1870G>C (p.Gly624Arg)
17g.44254593C>TCA399783082SLC4A1c.1960G>A (p.Gly654Ser)
c.862G>A (p.Gly288Ser)
c.1765G>A (p.Gly589Ser)
c.1870G>A (p.Gly624Ser)
 gnomAD v4
17g.44254594C>ACA8600159SLC4A1c.1959G>T (p.Leu653=)
c.861G>T (p.Leu287=)
c.1764G>T (p.Leu588=)
c.1869G>T (p.Leu623=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254594C=CA2261308282SLC4A1c.1959G= (p.Leu653=)
c.861G= (p.Leu287=)
c.1764G= (p.Leu588=)
c.1869G= (p.Leu623=)
17g.44254594C>GCA500285636SLC4A1c.1959G>C (p.Leu653=)
c.861G>C (p.Leu287=)
c.1764G>C (p.Leu588=)
c.1869G>C (p.Leu623=)
17g.44254594C>TCA500285633SLC4A1c.1959G>A (p.Leu653=)
c.861G>A (p.Leu287=)
c.1764G>A (p.Leu588=)
c.1869G>A (p.Leu623=)
 COSMIC
17g.44254595A>CCA399783088SLC4A1c.1958T>G (p.Leu653Arg)
c.860T>G (p.Leu287Arg)
c.1763T>G (p.Leu588Arg)
c.1868T>G (p.Leu623Arg)
 gnomAD v4
17g.44254595A>GCA399783089SLC4A1c.1958T>C (p.Leu653Pro)
c.860T>C (p.Leu287Pro)
c.1763T>C (p.Leu588Pro)
c.1868T>C (p.Leu623Pro)
17g.44254595A>TCA399783086SLC4A1c.1958T>A (p.Leu653Gln)
c.860T>A (p.Leu287Gln)
c.1763T>A (p.Leu588Gln)
c.1868T>A (p.Leu623Gln)
17g.44254596delCA2580093861SLC4A1c.1957del (p.Leu653TrpfsTer11)
c.859del (p.Leu287TrpfsTer11)
c.1762del (p.Leu588TrpfsTer11)
c.1867del (p.Leu623TrpfsTer11)
 ClinVar
17g.44254596G>ACA500285642SLC4A1c.1957C>T (p.Leu653=)
c.859C>T (p.Leu287=)
c.1762C>T (p.Leu588=)
c.1867C>T (p.Leu623=)
17g.44254596G>CCA399783092SLC4A1c.1957C>G (p.Leu653Val)
c.859C>G (p.Leu287Val)
c.1762C>G (p.Leu588Val)
c.1867C>G (p.Leu623Val)
17g.44254596G>TCA399783095SLC4A1c.1957C>A (p.Leu653Met)
c.859C>A (p.Leu287Met)
c.1762C>A (p.Leu588Met)
c.1867C>A (p.Leu623Met)
17g.44254597T>ACA500285646SLC4A1c.1956A>T (p.Pro652=)
c.858A>T (p.Pro286=)
c.1761A>T (p.Pro587=)
c.1866A>T (p.Pro622=)
17g.44254597T>CCA500285648SLC4A1c.1956A>G (p.Pro652=)
c.858A>G (p.Pro286=)
c.1761A>G (p.Pro587=)
c.1866A>G (p.Pro622=)
17g.44254597T>GCA500285650SLC4A1c.1956A>C (p.Pro652=)
c.858A>C (p.Pro286=)
c.1761A>C (p.Pro587=)
c.1866A>C (p.Pro622=)
 gnomAD v4
17g.44254597_44254598delinsTGCA2261308283SLC4A1c.1955_1956delinsCA (p.Pro652=)
c.857_858delinsCA (p.Pro286=)
c.1760_1761delinsCA (p.Pro587=)
c.1865_1866delinsCA (p.Pro622=)
17g.44254598G>ACA399783098SLC4A1c.1955C>T (p.Pro652Leu)
c.857C>T (p.Pro286Leu)
c.1760C>T (p.Pro587Leu)
c.1865C>T (p.Pro622Leu)
17g.44254598G>CCA399783102SLC4A1c.1955C>G (p.Pro652Arg)
c.857C>G (p.Pro286Arg)
c.1760C>G (p.Pro587Arg)
c.1865C>G (p.Pro622Arg)
17g.44254598G>TCA399783106SLC4A1c.1955C>A (p.Pro652Gln)
c.857C>A (p.Pro286Gln)
c.1760C>A (p.Pro587Gln)
c.1865C>A (p.Pro622Gln)
17g.44254600delCA626124751SLC4A1c.1955del (p.Pro652HisfsTer12)
c.857del (p.Pro286HisfsTer12)
c.1760del (p.Pro587HisfsTer12)
c.1865del (p.Pro622HisfsTer12)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.44254599G>ACA399783118SLC4A1c.1954C>T (p.Pro652Ser)
c.856C>T (p.Pro286Ser)
c.1759C>T (p.Pro587Ser)
c.1864C>T (p.Pro622Ser)
 ClinVar
17g.44254599G>CCA399783114SLC4A1c.1954C>G (p.Pro652Ala)
c.856C>G (p.Pro286Ala)
c.1759C>G (p.Pro587Ala)
c.1864C>G (p.Pro622Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.44254599G=CA2261308284SLC4A1c.1954C= (p.Pro652=)
c.856C= (p.Pro286=)
c.1759C= (p.Pro587=)
c.1864C= (p.Pro622=)
17g.44254599G>TCA399783115SLC4A1c.1954C>A (p.Pro652Thr)
c.856C>A (p.Pro286Thr)
c.1759C>A (p.Pro587Thr)
c.1864C>A (p.Pro622Thr)
17g.44254600G>ACA8600160SLC4A1c.1953C>T (p.His651=)
c.855C>T (p.His285=)
c.1758C>T (p.His586=)
c.1863C>T (p.His621=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254600G>CCA399783132SLC4A1c.1953C>G (p.His651Gln)
c.855C>G (p.His285Gln)
c.1758C>G (p.His586Gln)
c.1863C>G (p.His621Gln)
17g.44254600G=CA2261308285SLC4A1c.1953C= (p.His651=)
c.855C= (p.His285=)
c.1758C= (p.His586=)
c.1863C= (p.His621=)
17g.44254600G>TCA399783136SLC4A1c.1953C>A (p.His651Gln)
c.855C>A (p.His285Gln)
c.1758C>A (p.His586Gln)
c.1863C>A (p.His621Gln)
17g.44254601T>ACA399783141SLC4A1c.1952A>T (p.His651Leu)
c.854A>T (p.His285Leu)
c.1757A>T (p.His586Leu)
c.1862A>T (p.His621Leu)
17g.44254601T>CCA399783149SLC4A1c.1952A>G (p.His651Arg)
c.854A>G (p.His285Arg)
c.1757A>G (p.His586Arg)
c.1862A>G (p.His621Arg)
 gnomAD v4
17g.44254601T>GCA399783152SLC4A1c.1952A>C (p.His651Pro)
c.854A>C (p.His285Pro)
c.1757A>C (p.His586Pro)
c.1862A>C (p.His621Pro)
17g.44254602G>ACA399783156SLC4A1c.1951C>T (p.His651Tyr)
c.853C>T (p.His285Tyr)
c.1756C>T (p.His586Tyr)
c.1861C>T (p.His621Tyr)
 gnomAD v4
17g.44254602G>CCA399783157SLC4A1c.1951C>G (p.His651Asp)
c.853C>G (p.His285Asp)
c.1756C>G (p.His586Asp)
c.1861C>G (p.His621Asp)
17g.44254602G>TCA399783155SLC4A1c.1951C>A (p.His651Asn)
c.853C>A (p.His285Asn)
c.1756C>A (p.His586Asn)
c.1861C>A (p.His621Asn)
17g.44254603G>ACA500285669SLC4A1c.1950C>T (p.Ile650=)
c.852C>T (p.Ile284=)
c.1755C>T (p.Ile585=)
c.1860C>T (p.Ile620=)
17g.44254603G>CCA399783162SLC4A1c.1950C>G (p.Ile650Met)
c.852C>G (p.Ile284Met)
c.1755C>G (p.Ile585Met)
c.1860C>G (p.Ile620Met)
17g.44254603G>TCA500285670SLC4A1c.1950C>A (p.Ile650=)
c.852C>A (p.Ile284=)
c.1755C>A (p.Ile585=)
c.1860C>A (p.Ile620=)
17g.44254604A>CCA399783169SLC4A1c.1949T>G (p.Ile650Ser)
c.851T>G (p.Ile284Ser)
c.1754T>G (p.Ile585Ser)
c.1859T>G (p.Ile620Ser)
17g.44254604A>GCA399783172SLC4A1c.1949T>C (p.Ile650Thr)
c.851T>C (p.Ile284Thr)
c.1754T>C (p.Ile585Thr)
c.1859T>C (p.Ile620Thr)
17g.44254604A>TCA399783173SLC4A1c.1949T>A (p.Ile650Asn)
c.851T>A (p.Ile284Asn)
c.1754T>A (p.Ile585Asn)
c.1859T>A (p.Ile620Asn)
17g.44254605T>ACA399783178SLC4A1c.1948A>T (p.Ile650Phe)
c.850A>T (p.Ile284Phe)
c.1753A>T (p.Ile585Phe)
c.1858A>T (p.Ile620Phe)
17g.44254605T>CCA399783181SLC4A1c.1948A>G (p.Ile650Val)
c.850A>G (p.Ile284Val)
c.1753A>G (p.Ile585Val)
c.1858A>G (p.Ile620Val)
 gnomAD v4
17g.44254605T>GCA399783183SLC4A1c.1948A>C (p.Ile650Leu)
c.850A>C (p.Ile284Leu)
c.1753A>C (p.Ile585Leu)
c.1858A>C (p.Ile620Leu)
 gnomAD v4
17g.44254606G>ACA8600161SLC4A1c.1947C>T (p.Val649=)
c.849C>T (p.Val283=)
c.1752C>T (p.Val584=)
c.1857C>T (p.Val619=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254606G>CCA500285680SLC4A1c.1947C>G (p.Val649=)
c.849C>G (p.Val283=)
c.1752C>G (p.Val584=)
c.1857C>G (p.Val619=)
17g.44254606G=CA2261308286SLC4A1c.1947C= (p.Val649=)
c.849C= (p.Val283=)
c.1752C= (p.Val584=)
c.1857C= (p.Val619=)
17g.44254606G>TCA500285682SLC4A1c.1947C>A (p.Val649=)
c.849C>A (p.Val283=)
c.1752C>A (p.Val584=)
c.1857C>A (p.Val619=)
17g.44254607A>CCA399783193SLC4A1c.1946T>G (p.Val649Gly)
c.848T>G (p.Val283Gly)
c.1751T>G (p.Val584Gly)
c.1856T>G (p.Val619Gly)
17g.44254607A>GCA399783200SLC4A1c.1946T>C (p.Val649Ala)
c.848T>C (p.Val283Ala)
c.1751T>C (p.Val584Ala)
c.1856T>C (p.Val619Ala)
17g.44254607A>TCA399783211SLC4A1c.1946T>A (p.Val649Asp)
c.848T>A (p.Val283Asp)
c.1751T>A (p.Val584Asp)
c.1856T>A (p.Val619Asp)
17g.44254608C>ACA399783214SLC4A1c.1945G>T (p.Val649Phe)
c.847G>T (p.Val283Phe)
c.1750G>T (p.Val584Phe)
c.1855G>T (p.Val619Phe)
17g.44254608C>GCA399783216SLC4A1c.1945G>C (p.Val649Leu)
c.847G>C (p.Val283Leu)
c.1750G>C (p.Val584Leu)
c.1855G>C (p.Val619Leu)
17g.44254608C>TCA399783221SLC4A1c.1945G>A (p.Val649Ile)
c.847G>A (p.Val283Ile)
c.1750G>A (p.Val584Ile)
c.1855G>A (p.Val619Ile)
17g.44254609C>ACA399783245SLC4A1c.1944G>T (p.Trp648Cys)
c.846G>T (p.Trp282Cys)
c.1749G>T (p.Trp583Cys)
c.1854G>T (p.Trp618Cys)
17g.44254609C=CA2261308287SLC4A1c.1944G= (p.Trp648=)
c.846G= (p.Trp282=)
c.1749G= (p.Trp583=)
c.1854G= (p.Trp618=)
17g.44254609C>GCA399783241SLC4A1c.1944G>C (p.Trp648Cys)
c.846G>C (p.Trp282Cys)
c.1749G>C (p.Trp583Cys)
c.1854G>C (p.Trp618Cys)
 dbSNP gnomAD v2 gnomAD v4
17g.44254609C>TCA399783238SLC4A1c.1944G>A (p.Trp648Ter)
c.846G>A (p.Trp282Ter)
c.1749G>A (p.Trp583Ter)
c.1854G>A (p.Trp618Ter)
17g.44254610C>ACA399783249SLC4A1c.1943G>T (p.Trp648Leu)
c.845G>T (p.Trp282Leu)
c.1748G>T (p.Trp583Leu)
c.1853G>T (p.Trp618Leu)
17g.44254610C>GCA399783252SLC4A1c.1943G>C (p.Trp648Ser)
c.845G>C (p.Trp282Ser)
c.1748G>C (p.Trp583Ser)
c.1853G>C (p.Trp618Ser)
 gnomAD v4
17g.44254610C>TCA399783255SLC4A1c.1943G>A (p.Trp648Ter)
c.845G>A (p.Trp282Ter)
c.1748G>A (p.Trp583Ter)
c.1853G>A (p.Trp618Ter)
 ClinVar
17g.44254611A>CCA399783266SLC4A1c.1942T>G (p.Trp648Gly)
c.844T>G (p.Trp282Gly)
c.1747T>G (p.Trp583Gly)
c.1852T>G (p.Trp618Gly)
17g.44254611A>GCA399783269SLC4A1c.1942T>C (p.Trp648Arg)
c.844T>C (p.Trp282Arg)
c.1747T>C (p.Trp583Arg)
c.1852T>C (p.Trp618Arg)
17g.44254611A>TCA399783271SLC4A1c.1942T>A (p.Trp648Arg)
c.844T>A (p.Trp282Arg)
c.1747T>A (p.Trp583Arg)
c.1852T>A (p.Trp618Arg)
17g.44254612G>ACA500285702SLC4A1c.1941C>T (p.Gly647=)
c.843C>T (p.Gly281=)
c.1746C>T (p.Gly582=)
c.1851C>T (p.Gly617=)
17g.44254612G>CCA290928549SLC4A1c.1941C>G (p.Gly647=)
c.843C>G (p.Gly281=)
c.1746C>G (p.Gly582=)
c.1851C>G (p.Gly617=)
 dbSNP gnomAD v2 gnomAD v4
17g.44254612G=CA2261308288SLC4A1c.1941C= (p.Gly647=)
c.843C= (p.Gly281=)
c.1746C= (p.Gly582=)
c.1851C= (p.Gly617=)
17g.44254612G>TCA500285706SLC4A1c.1941C>A (p.Gly647=)
c.843C>A (p.Gly281=)
c.1746C>A (p.Gly582=)
c.1851C>A (p.Gly617=)
17g.44254613C>ACA399783277SLC4A1c.1940G>T (p.Gly647Val)
c.842G>T (p.Gly281Val)
c.1745G>T (p.Gly582Val)
c.1850G>T (p.Gly617Val)
 COSMIC
17g.44254613C=CA2261308289SLC4A1c.1940G= (p.Gly647=)
c.842G= (p.Gly281=)
c.1745G= (p.Gly582=)
c.1850G= (p.Gly617=)
17g.44254613C>GCA399783280SLC4A1c.1940G>C (p.Gly647Ala)
c.842G>C (p.Gly281Ala)
c.1745G>C (p.Gly582Ala)
c.1850G>C (p.Gly617Ala)
17g.44254613C>TCA8600162SLC4A1c.1940G>A (p.Gly647Asp)
c.842G>A (p.Gly281Asp)
c.1745G>A (p.Gly582Asp)
c.1850G>A (p.Gly617Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254616delCA2638191307SLC4A1c.1940del (p.Gly647AlafsTer17)
c.842del (p.Gly281AlafsTer17)
c.1745del (p.Gly582AlafsTer17)
c.1850del (p.Gly617AlafsTer17)
 gnomAD v4
17g.44254614C>ACA399783292SLC4A1c.1939G>T (p.Gly647Cys)
c.841G>T (p.Gly281Cys)
c.1744G>T (p.Gly582Cys)
c.1849G>T (p.Gly617Cys)
17g.44254614C>GCA399783294SLC4A1c.1939G>C (p.Gly647Arg)
c.841G>C (p.Gly281Arg)
c.1744G>C (p.Gly582Arg)
c.1849G>C (p.Gly617Arg)
17g.44254614C>TCA399783298SLC4A1c.1939G>A (p.Gly647Ser)
c.841G>A (p.Gly281Ser)
c.1744G>A (p.Gly582Ser)
c.1849G>A (p.Gly617Ser)
17g.44254615C>ACA500285719SLC4A1c.1938G>T (p.Arg646=)
c.840G>T (p.Arg280=)
c.1743G>T (p.Arg581=)
c.1848G>T (p.Arg616=)
17g.44254615C>GCA500285721SLC4A1c.1938G>C (p.Arg646=)
c.840G>C (p.Arg280=)
c.1743G>C (p.Arg581=)
c.1848G>C (p.Arg616=)
17g.44254615C>TCA500285716SLC4A1c.1938G>A (p.Arg646=)
c.840G>A (p.Arg280=)
c.1743G>A (p.Arg581=)
c.1848G>A (p.Arg616=)
 gnomAD v4
17g.44254616C>ACA399783302SLC4A1c.1937G>T (p.Arg646Leu)
c.839G>T (p.Arg280Leu)
c.1742G>T (p.Arg581Leu)
c.1847G>T (p.Arg616Leu)
17g.44254616C=CA2261308290SLC4A1c.1937G= (p.Arg646=)
c.839G= (p.Arg280=)
c.1742G= (p.Arg581=)
c.1847G= (p.Arg616=)
17g.44254616C>GCA399783305SLC4A1c.1937G>C (p.Arg646Pro)
c.839G>C (p.Arg280Pro)
c.1742G>C (p.Arg581Pro)
c.1847G>C (p.Arg616Pro)
 gnomAD v4
17g.44254616C>TCA127408SLC4A1c.1937G>A (p.Arg646Gln)
c.839G>A (p.Arg280Gln)
c.1742G>A (p.Arg581Gln)
c.1847G>A (p.Arg616Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254617G>ACA127400SLC4A1c.1936C>T (p.Arg646Trp)
c.838C>T (p.Arg280Trp)
c.1741C>T (p.Arg581Trp)
c.1846C>T (p.Arg616Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254617G>CCA399783310SLC4A1c.1936C>G (p.Arg646Gly)
c.838C>G (p.Arg280Gly)
c.1741C>G (p.Arg581Gly)
c.1846C>G (p.Arg616Gly)
 gnomAD v3 gnomAD v4
17g.44254617G=CA2261308291SLC4A1c.1936C= (p.Arg646=)
c.838C= (p.Arg280=)
c.1741C= (p.Arg581=)
c.1846C= (p.Arg616=)
17g.44254617G>TCA290928566SLC4A1c.1936C>A (p.Arg646=)
c.838C>A (p.Arg280=)
c.1741C>A (p.Arg581=)
c.1846C>A (p.Arg616=)
 dbSNP gnomAD v3 gnomAD v4
17g.44254618G>ACA500285735SLC4A1c.1935C>T (p.Ala645=)
c.837C>T (p.Ala279=)
c.1740C>T (p.Ala580=)
c.1845C>T (p.Ala615=)
17g.44254618G>CCA8600163SLC4A1c.1935C>G (p.Ala645=)
c.837C>G (p.Ala279=)
c.1740C>G (p.Ala580=)
c.1845C>G (p.Ala615=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254618G=CA2261308292SLC4A1c.1935C= (p.Ala645=)
c.837C= (p.Ala279=)
c.1740C= (p.Ala580=)
c.1845C= (p.Ala615=)
17g.44254618G>TCA500285732SLC4A1c.1935C>A (p.Ala645=)
c.837C>A (p.Ala279=)
c.1740C>A (p.Ala580=)
c.1845C>A (p.Ala615=)
17g.44254619G>ACA399783321SLC4A1c.1934C>T (p.Ala645Val)
c.836C>T (p.Ala279Val)
c.1739C>T (p.Ala580Val)
c.1844C>T (p.Ala615Val)
17g.44254619G>CCA399783324SLC4A1c.1934C>G (p.Ala645Gly)
c.836C>G (p.Ala279Gly)
c.1739C>G (p.Ala580Gly)
c.1844C>G (p.Ala615Gly)
17g.44254619G>TCA399783331SLC4A1c.1934C>A (p.Ala645Asp)
c.836C>A (p.Ala279Asp)
c.1739C>A (p.Ala580Asp)
c.1844C>A (p.Ala615Asp)
17g.44254620C>ACA399783334SLC4A1c.1933G>T (p.Ala645Ser)
c.835G>T (p.Ala279Ser)
c.1738G>T (p.Ala580Ser)
c.1843G>T (p.Ala615Ser)
17g.44254620C>GCA399783349SLC4A1c.1933G>C (p.Ala645Pro)
c.835G>C (p.Ala279Pro)
c.1738G>C (p.Ala580Pro)
c.1843G>C (p.Ala615Pro)
17g.44254620C>TCA399783352SLC4A1c.1933G>A (p.Ala645Thr)
c.835G>A (p.Ala279Thr)
c.1738G>A (p.Ala580Thr)
c.1843G>A (p.Ala615Thr)

Number of alleles fetched