Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
17g.44254621T>ACA500285746SLC4A1c.1932A>T (p.Ser644=)
c.834A>T (p.Ser278=)
c.1737A>T (p.Ser579=)
c.1842A>T (p.Ser614=)
17g.44254621T>CCA500285749SLC4A1c.1932A>G (p.Ser644=)
c.834A>G (p.Ser278=)
c.1737A>G (p.Ser579=)
c.1842A>G (p.Ser614=)
17g.44254621T>GCA500285748SLC4A1c.1932A>C (p.Ser644=)
c.834A>C (p.Ser278=)
c.1737A>C (p.Ser579=)
c.1842A>C (p.Ser614=)
17g.44254622G>ACA399783356SLC4A1c.1931C>T (p.Ser644Leu)
c.833C>T (p.Ser278Leu)
c.1736C>T (p.Ser579Leu)
c.1841C>T (p.Ser614Leu)
17g.44254622G>CCA399783358SLC4A1c.1931C>G (p.Ser644Ter)
c.833C>G (p.Ser278Ter)
c.1736C>G (p.Ser579Ter)
c.1841C>G (p.Ser614Ter)
17g.44254622G>TCA399783361SLC4A1c.1931C>A (p.Ser644Ter)
c.833C>A (p.Ser278Ter)
c.1736C>A (p.Ser579Ter)
c.1841C>A (p.Ser614Ter)
17g.44254623A>CCA399783371SLC4A1c.1930T>G (p.Ser644Ala)
c.832T>G (p.Ser278Ala)
c.1735T>G (p.Ser579Ala)
c.1840T>G (p.Ser614Ala)
17g.44254623A>GCA399783366SLC4A1c.1930T>C (p.Ser644Pro)
c.832T>C (p.Ser278Pro)
c.1735T>C (p.Ser579Pro)
c.1840T>C (p.Ser614Pro)
17g.44254623A>TCA399783369SLC4A1c.1930T>A (p.Ser644Thr)
c.832T>A (p.Ser278Thr)
c.1735T>A (p.Ser579Thr)
c.1840T>A (p.Ser614Thr)
17g.44254624G>ACA500285760SLC4A1c.1929C>T (p.Ser643=)
c.831C>T (p.Ser277=)
c.1734C>T (p.Ser578=)
c.1839C>T (p.Ser613=)
17g.44254624G>CCA500285762SLC4A1c.1929C>G (p.Ser643=)
c.831C>G (p.Ser277=)
c.1734C>G (p.Ser578=)
c.1839C>G (p.Ser613=)
17g.44254624G>TCA500285764SLC4A1c.1929C>A (p.Ser643=)
c.831C>A (p.Ser277=)
c.1734C>A (p.Ser578=)
c.1839C>A (p.Ser613=)
17g.44254625G>ACA8600164SLC4A1c.1928C>T (p.Ser643Phe)
c.830C>T (p.Ser277Phe)
c.1733C>T (p.Ser578Phe)
c.1838C>T (p.Ser613Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254625G>CCA399783375SLC4A1c.1928C>G (p.Ser643Cys)
c.830C>G (p.Ser277Cys)
c.1733C>G (p.Ser578Cys)
c.1838C>G (p.Ser613Cys)
17g.44254625G=CA2261308293SLC4A1c.1928C= (p.Ser643=)
c.830C= (p.Ser277=)
c.1733C= (p.Ser578=)
c.1838C= (p.Ser613=)
17g.44254625G>TCA399783378SLC4A1c.1928C>A (p.Ser643Tyr)
c.830C>A (p.Ser277Tyr)
c.1733C>A (p.Ser578Tyr)
c.1838C>A (p.Ser613Tyr)
17g.44254626A=CA2261308294SLC4A1c.1927T= (p.Ser643=)
c.829T= (p.Ser277=)
c.1732T= (p.Ser578=)
c.1837T= (p.Ser613=)
17g.44254626A>CCA399783385SLC4A1c.1927T>G (p.Ser643Ala)
c.829T>G (p.Ser277Ala)
c.1732T>G (p.Ser578Ala)
c.1837T>G (p.Ser613Ala)
17g.44254626A>GCA399783387SLC4A1c.1927T>C (p.Ser643Pro)
c.829T>C (p.Ser277Pro)
c.1732T>C (p.Ser578Pro)
c.1837T>C (p.Ser613Pro)
17g.44254626A>TCA399783389SLC4A1c.1927T>A (p.Ser643Thr)
c.829T>A (p.Ser277Thr)
c.1732T>A (p.Ser578Thr)
c.1837T>A (p.Ser613Thr)
 dbSNP gnomAD v3 gnomAD v4
17g.44254627G>ACA8600165SLC4A1c.1926C>T (p.Asn642=)
c.828C>T (p.Asn276=)
c.1731C>T (p.Asn577=)
c.1836C>T (p.Asn612=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254627G>CCA399783392SLC4A1c.1926C>G (p.Asn642Lys)
c.828C>G (p.Asn276Lys)
c.1731C>G (p.Asn577Lys)
c.1836C>G (p.Asn612Lys)
17g.44254627G=CA2261308295SLC4A1c.1926C= (p.Asn642=)
c.828C= (p.Asn276=)
c.1731C= (p.Asn577=)
c.1836C= (p.Asn612=)
17g.44254627G>TCA399783394SLC4A1c.1926C>A (p.Asn642Lys)
c.828C>A (p.Asn276Lys)
c.1731C>A (p.Asn577Lys)
c.1836C>A (p.Asn612Lys)
17g.44254628T>ACA399783400SLC4A1c.1925A>T (p.Asn642Ile)
c.827A>T (p.Asn276Ile)
c.1730A>T (p.Asn577Ile)
c.1835A>T (p.Asn612Ile)
17g.44254628T>CCA399783401SLC4A1c.1925A>G (p.Asn642Ser)
c.827A>G (p.Asn276Ser)
c.1730A>G (p.Asn577Ser)
c.1835A>G (p.Asn612Ser)
 gnomAD v4
17g.44254628T>GCA399783404SLC4A1c.1925A>C (p.Asn642Thr)
c.827A>C (p.Asn276Thr)
c.1730A>C (p.Asn577Thr)
c.1835A>C (p.Asn612Thr)
17g.44254629T>ACA399783411SLC4A1c.1924A>T (p.Asn642Tyr)
c.826A>T (p.Asn276Tyr)
c.1729A>T (p.Asn577Tyr)
c.1834A>T (p.Asn612Tyr)
17g.44254629T>CCA399783413SLC4A1c.1924A>G (p.Asn642Asp)
c.826A>G (p.Asn276Asp)
c.1729A>G (p.Asn577Asp)
c.1834A>G (p.Asn612Asp)
17g.44254629T>GCA399783410SLC4A1c.1924A>C (p.Asn642His)
c.826A>C (p.Asn276His)
c.1729A>C (p.Asn577His)
c.1834A>C (p.Asn612His)
17g.44254630G>ACA500285786SLC4A1c.1923C>T (p.Ser641=)
c.825C>T (p.Ser275=)
c.1728C>T (p.Ser576=)
c.1833C>T (p.Ser611=)
17g.44254630G>CCA500285788SLC4A1c.1923C>G (p.Ser641=)
c.825C>G (p.Ser275=)
c.1728C>G (p.Ser576=)
c.1833C>G (p.Ser611=)
17g.44254630G>TCA500285789SLC4A1c.1923C>A (p.Ser641=)
c.825C>A (p.Ser275=)
c.1728C>A (p.Ser576=)
c.1833C>A (p.Ser611=)
17g.44254631G>ACA399783418SLC4A1c.1922C>T (p.Ser641Phe)
c.824C>T (p.Ser275Phe)
c.1727C>T (p.Ser576Phe)
c.1832C>T (p.Ser611Phe)
17g.44254631G>CCA399783422SLC4A1c.1922C>G (p.Ser641Cys)
c.824C>G (p.Ser275Cys)
c.1727C>G (p.Ser576Cys)
c.1832C>G (p.Ser611Cys)
17g.44254631G>TCA399783423SLC4A1c.1922C>A (p.Ser641Tyr)
c.824C>A (p.Ser275Tyr)
c.1727C>A (p.Ser576Tyr)
c.1832C>A (p.Ser611Tyr)
 gnomAD v4
17g.44254632A>CCA399783427SLC4A1c.1921T>G (p.Ser641Ala)
c.823T>G (p.Ser275Ala)
c.1726T>G (p.Ser576Ala)
c.1831T>G (p.Ser611Ala)
17g.44254632A>GCA399783429SLC4A1c.1921T>C (p.Ser641Pro)
c.823T>C (p.Ser275Pro)
c.1726T>C (p.Ser576Pro)
c.1831T>C (p.Ser611Pro)
17g.44254632A>TCA399783431SLC4A1c.1921T>A (p.Ser641Thr)
c.823T>A (p.Ser275Thr)
c.1726T>A (p.Ser576Thr)
c.1831T>A (p.Ser611Thr)
17g.44254633C>ACA500285800SLC4A1c.1920G>T (p.Val640=)
c.822G>T (p.Val274=)
c.1725G>T (p.Val575=)
c.1830G>T (p.Val610=)
17g.44254633C>GCA500285802SLC4A1c.1920G>C (p.Val640=)
c.822G>C (p.Val274=)
c.1725G>C (p.Val575=)
c.1830G>C (p.Val610=)
 COSMIC
17g.44254633C>TCA500285804SLC4A1c.1920G>A (p.Val640=)
c.822G>A (p.Val274=)
c.1725G>A (p.Val575=)
c.1830G>A (p.Val610=)
 dbSNP
17g.44254634A>CCA399783441SLC4A1c.1919T>G (p.Val640Gly)
c.821T>G (p.Val274Gly)
c.1724T>G (p.Val575Gly)
c.1829T>G (p.Val610Gly)
17g.44254634A>GCA399783436SLC4A1c.1919T>C (p.Val640Ala)
c.821T>C (p.Val274Ala)
c.1724T>C (p.Val575Ala)
c.1829T>C (p.Val610Ala)
 gnomAD v4
17g.44254634A>TCA399783438SLC4A1c.1919T>A (p.Val640Glu)
c.821T>A (p.Val274Glu)
c.1724T>A (p.Val575Glu)
c.1829T>A (p.Val610Glu)
 gnomAD v4
17g.44254635C>ACA399783447SLC4A1c.1918G>T (p.Val640Leu)
c.820G>T (p.Val274Leu)
c.1723G>T (p.Val575Leu)
c.1828G>T (p.Val610Leu)
17g.44254635C=CA2261308296SLC4A1c.1918G= (p.Val640=)
c.820G= (p.Val274=)
c.1723G= (p.Val575=)
c.1828G= (p.Val610=)
17g.44254635C>GCA399783449SLC4A1c.1918G>C (p.Val640Leu)
c.820G>C (p.Val274Leu)
c.1723G>C (p.Val575Leu)
c.1828G>C (p.Val610Leu)
 dbSNP
17g.44254635C>TCA8600166SLC4A1c.1918G>A (p.Val640Met)
c.820G>A (p.Val274Met)
c.1723G>A (p.Val575Met)
c.1828G>A (p.Val610Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254636C>ACA399783453SLC4A1c.1917G>T (p.Lys639Asn)
c.819G>T (p.Lys273Asn)
c.1722G>T (p.Lys574Asn)
c.1827G>T (p.Lys609Asn)
17g.44254636C>GCA399783454SLC4A1c.1917G>C (p.Lys639Asn)
c.819G>C (p.Lys273Asn)
c.1722G>C (p.Lys574Asn)
c.1827G>C (p.Lys609Asn)
17g.44254636C>TCA500285815SLC4A1c.1917G>A (p.Lys639=)
c.819G>A (p.Lys273=)
c.1722G>A (p.Lys574=)
c.1827G>A (p.Lys609=)
 gnomAD v4
17g.44254637T>ACA399783461SLC4A1c.1916A>T (p.Lys639Met)
c.818A>T (p.Lys273Met)
c.1721A>T (p.Lys574Met)
c.1826A>T (p.Lys609Met)
17g.44254637T>CCA399783456SLC4A1c.1916A>G (p.Lys639Arg)
c.818A>G (p.Lys273Arg)
c.1721A>G (p.Lys574Arg)
c.1826A>G (p.Lys609Arg)
17g.44254637T>GCA399783459SLC4A1c.1916A>C (p.Lys639Thr)
c.818A>C (p.Lys273Thr)
c.1721A>C (p.Lys574Thr)
c.1826A>C (p.Lys609Thr)
17g.44254638delCA2697559956SLC4A1c.1916del (p.Lys639ArgfsTer25)
c.818del (p.Lys273ArgfsTer25)
c.1721del (p.Lys574ArgfsTer25)
c.1826del (p.Lys609ArgfsTer25)
 ClinVar
17g.44254638T>ACA399783463SLC4A1c.1915A>T (p.Lys639Ter)
c.817A>T (p.Lys273Ter)
c.1720A>T (p.Lys574Ter)
c.1825A>T (p.Lys609Ter)
 ClinVar
17g.44254638T>CCA399783465SLC4A1c.1915A>G (p.Lys639Glu)
c.817A>G (p.Lys273Glu)
c.1720A>G (p.Lys574Glu)
c.1825A>G (p.Lys609Glu)
17g.44254638T>GCA399783467SLC4A1c.1915A>C (p.Lys639Gln)
c.817A>C (p.Lys273Gln)
c.1720A>C (p.Lys574Gln)
c.1825A>C (p.Lys609Gln)
17g.44254639G>ACA500285826SLC4A1c.1914C>T (p.Phe638=)
c.816C>T (p.Phe272=)
c.1719C>T (p.Phe573=)
c.1824C>T (p.Phe608=)
17g.44254639G>CCA399783470SLC4A1c.1914C>G (p.Phe638Leu)
c.816C>G (p.Phe272Leu)
c.1719C>G (p.Phe573Leu)
c.1824C>G (p.Phe608Leu)
17g.44254639G>TCA399783472SLC4A1c.1914C>A (p.Phe638Leu)
c.816C>A (p.Phe272Leu)
c.1719C>A (p.Phe573Leu)
c.1824C>A (p.Phe608Leu)
17g.44254640A>CCA399783482SLC4A1c.1913T>G (p.Phe638Cys)
c.815T>G (p.Phe272Cys)
c.1718T>G (p.Phe573Cys)
c.1823T>G (p.Phe608Cys)
17g.44254640A>GCA399783479SLC4A1c.1913T>C (p.Phe638Ser)
c.815T>C (p.Phe272Ser)
c.1718T>C (p.Phe573Ser)
c.1823T>C (p.Phe608Ser)
17g.44254640A>TCA399783476SLC4A1c.1913T>A (p.Phe638Tyr)
c.815T>A (p.Phe272Tyr)
c.1718T>A (p.Phe573Tyr)
c.1823T>A (p.Phe608Tyr)
17g.44254641A>CCA399783484SLC4A1c.1912T>G (p.Phe638Val)
c.814T>G (p.Phe272Val)
c.1717T>G (p.Phe573Val)
c.1822T>G (p.Phe608Val)
17g.44254641A>GCA399783487SLC4A1c.1912T>C (p.Phe638Leu)
c.814T>C (p.Phe272Leu)
c.1717T>C (p.Phe573Leu)
c.1822T>C (p.Phe608Leu)
 gnomAD v4
17g.44254641A>TCA399783491SLC4A1c.1912T>A (p.Phe638Ile)
c.814T>A (p.Phe272Ile)
c.1717T>A (p.Phe573Ile)
c.1822T>A (p.Phe608Ile)
17g.44254642G>ACA500285838SLC4A1c.1911C>T (p.Gly637=)
c.813C>T (p.Gly271=)
c.1716C>T (p.Gly572=)
c.1821C>T (p.Gly607=)
17g.44254642G>CCA500285840SLC4A1c.1911C>G (p.Gly637=)
c.813C>G (p.Gly271=)
c.1716C>G (p.Gly572=)
c.1821C>G (p.Gly607=)
17g.44254642G>TCA500285842SLC4A1c.1911C>A (p.Gly637=)
c.813C>A (p.Gly271=)
c.1716C>A (p.Gly572=)
c.1821C>A (p.Gly607=)
17g.44254643C>ACA399783495SLC4A1c.1910G>T (p.Gly637Val)
c.812G>T (p.Gly271Val)
c.1715G>T (p.Gly572Val)
c.1820G>T (p.Gly607Val)
17g.44254643C=CA2261308297SLC4A1c.1910G= (p.Gly637=)
c.812G= (p.Gly271=)
c.1715G= (p.Gly572=)
c.1820G= (p.Gly607=)
17g.44254643C>GCA399783498SLC4A1c.1910G>C (p.Gly637Ala)
c.812G>C (p.Gly271Ala)
c.1715G>C (p.Gly572Ala)
c.1820G>C (p.Gly607Ala)
17g.44254643C>TCA290928598SLC4A1c.1910G>A (p.Gly637Asp)
c.812G>A (p.Gly271Asp)
c.1715G>A (p.Gly572Asp)
c.1820G>A (p.Gly607Asp)
 dbSNP
17g.44254644C>ACA399783504SLC4A1c.1909G>T (p.Gly637Cys)
c.811G>T (p.Gly271Cys)
c.1714G>T (p.Gly572Cys)
c.1819G>T (p.Gly607Cys)
17g.44254644C>GCA399783512SLC4A1c.1909G>C (p.Gly637Arg)
c.811G>C (p.Gly271Arg)
c.1714G>C (p.Gly572Arg)
c.1819G>C (p.Gly607Arg)
17g.44254644C>TCA399783510SLC4A1c.1909G>A (p.Gly637Ser)
c.811G>A (p.Gly271Ser)
c.1714G>A (p.Gly572Ser)
c.1819G>A (p.Gly607Ser)
17g.44254645A>CCA399783513SLC4A1c.1908T>G (p.Asp636Glu)
c.810T>G (p.Asp270Glu)
c.1713T>G (p.Asp571Glu)
c.1818T>G (p.Asp606Glu)
17g.44254645A>GCA500285851SLC4A1c.1908T>C (p.Asp636=)
c.810T>C (p.Asp270=)
c.1713T>C (p.Asp571=)
c.1818T>C (p.Asp606=)
 gnomAD v4
17g.44254645A>TCA399783516SLC4A1c.1908T>A (p.Asp636Glu)
c.810T>A (p.Asp270Glu)
c.1713T>A (p.Asp571Glu)
c.1818T>A (p.Asp606Glu)
17g.44254646T>ACA399783518SLC4A1c.1907A>T (p.Asp636Val)
c.809A>T (p.Asp270Val)
c.1712A>T (p.Asp571Val)
c.1817A>T (p.Asp606Val)
17g.44254646T>CCA399783520SLC4A1c.1907A>G (p.Asp636Gly)
c.809A>G (p.Asp270Gly)
c.1712A>G (p.Asp571Gly)
c.1817A>G (p.Asp606Gly)
17g.44254646T>GCA399783523SLC4A1c.1907A>C (p.Asp636Ala)
c.809A>C (p.Asp270Ala)
c.1712A>C (p.Asp571Ala)
c.1817A>C (p.Asp606Ala)
17g.44254647C>ACA399783532SLC4A1c.1906G>T (p.Asp636Tyr)
c.808G>T (p.Asp270Tyr)
c.1711G>T (p.Asp571Tyr)
c.1816G>T (p.Asp606Tyr)
17g.44254647C=CA2261308298SLC4A1c.1906G= (p.Asp636=)
c.808G= (p.Asp270=)
c.1711G= (p.Asp571=)
c.1816G= (p.Asp606=)
17g.44254647C>GCA399783529SLC4A1c.1906G>C (p.Asp636His)
c.808G>C (p.Asp270His)
c.1711G>C (p.Asp571His)
c.1816G>C (p.Asp606His)
17g.44254647C>TCA399783528SLC4A1c.1906G>A (p.Asp636Asn)
c.808G>A (p.Asp270Asn)
c.1711G>A (p.Asp571Asn)
c.1816G>A (p.Asp606Asn)
17g.44254647_44254648insCTCCTGCCCTTGGCATTCTTACCTGCTCA2261308300SLC4A1c.1905_1906insAGCAGGTAAGAATGCCAAGGGCAGGAG
c.807_808insAGCAGGTAAGAATGCCAAGGGCAGGAG
c.1710_1711insAGCAGGTAAGAATGCCAAGGGCAGGAG
c.1815_1816insAGCAGGTAAGAATGCCAAGGGCAGGAG
 dbSNP
17g.44254648A=CA2261308299SLC4A1c.1905T= (p.Pro635=)
c.807T= (p.Pro269=)
c.1710T= (p.Pro570=)
c.1815T= (p.Pro605=)
17g.44254648A>CCA500285862SLC4A1c.1905T>G (p.Pro635=)
c.807T>G (p.Pro269=)
c.1710T>G (p.Pro570=)
c.1815T>G (p.Pro605=)
17g.44254648A>GCA500285863SLC4A1c.1905T>C (p.Pro635=)
c.807T>C (p.Pro269=)
c.1710T>C (p.Pro570=)
c.1815T>C (p.Pro605=)
 dbSNP gnomAD v2 gnomAD v4
17g.44254648A>TCA500285865SLC4A1c.1905T>A (p.Pro635=)
c.807T>A (p.Pro269=)
c.1710T>A (p.Pro570=)
c.1815T>A (p.Pro605=)
17g.44254649G>ACA399783538SLC4A1c.1904C>T (p.Pro635Leu)
c.806C>T (p.Pro269Leu)
c.1709C>T (p.Pro570Leu)
c.1814C>T (p.Pro605Leu)
17g.44254649G>CCA399783539SLC4A1c.1904C>G (p.Pro635Arg)
c.806C>G (p.Pro269Arg)
c.1709C>G (p.Pro570Arg)
c.1814C>G (p.Pro605Arg)
17g.44254649G>TCA399783543SLC4A1c.1904C>A (p.Pro635His)
c.806C>A (p.Pro269His)
c.1709C>A (p.Pro570His)
c.1814C>A (p.Pro605His)
17g.44254650G>ACA399783550SLC4A1c.1903C>T (p.Pro635Ser)
c.805C>T (p.Pro269Ser)
c.1708C>T (p.Pro570Ser)
c.1813C>T (p.Pro605Ser)
 COSMIC
17g.44254650G>CCA399783552SLC4A1c.1903C>G (p.Pro635Ala)
c.805C>G (p.Pro269Ala)
c.1708C>G (p.Pro570Ala)
c.1813C>G (p.Pro605Ala)
17g.44254650G>TCA399783554SLC4A1c.1903C>A (p.Pro635Thr)
c.805C>A (p.Pro269Thr)
c.1708C>A (p.Pro570Thr)
c.1813C>A (p.Pro605Thr)
17g.44254651C>ACA500285874SLC4A1c.1902G>T (p.Val634=)
c.804G>T (p.Val268=)
c.1707G>T (p.Val569=)
c.1812G>T (p.Val604=)
17g.44254651C>GCA500285876SLC4A1c.1902G>C (p.Val634=)
c.804G>C (p.Val268=)
c.1707G>C (p.Val569=)
c.1812G>C (p.Val604=)
17g.44254651C>TCA500285877SLC4A1c.1902G>A (p.Val634=)
c.804G>A (p.Val268=)
c.1707G>A (p.Val569=)
c.1812G>A (p.Val604=)
17g.44254652A=CA2261308301SLC4A1c.1901T= (p.Val634=)
c.803T= (p.Val268=)
c.1706T= (p.Val569=)
c.1811T= (p.Val604=)
17g.44254652A>CCA399783559SLC4A1c.1901T>G (p.Val634Gly)
c.803T>G (p.Val268Gly)
c.1706T>G (p.Val569Gly)
c.1811T>G (p.Val604Gly)
17g.44254652A>GCA399783565SLC4A1c.1901T>C (p.Val634Ala)
c.803T>C (p.Val268Ala)
c.1706T>C (p.Val569Ala)
c.1811T>C (p.Val604Ala)
 dbSNP gnomAD v4
17g.44254652A>TCA399783560SLC4A1c.1901T>A (p.Val634Glu)
c.803T>A (p.Val268Glu)
c.1706T>A (p.Val569Glu)
c.1811T>A (p.Val604Glu)
17g.44254652_44254653insTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCA2809585967SLC4A1c.1900_1901insATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTGGAGTCTCAGATCACCACGTGAGA (p.Val634AspfsTer56)
c.802_803insATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTGGAGTCTCAGATCACCACGTGAGA (p.Val268AspfsTer56)
c.1705_1706insATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTGGAGTCTCAGATCACCACGTGAGA (p.Val569AspfsTer56)
c.1810_1811insATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTGGAGTCTCAGATCACCACGTGAGA (p.Val604AspfsTer56)
17g.44254653C>ACA399783568SLC4A1c.1900G>T (p.Val634Leu)
c.802G>T (p.Val268Leu)
c.1705G>T (p.Val569Leu)
c.1810G>T (p.Val604Leu)
 dbSNP gnomAD v2
17g.44254653C=CA2261308302SLC4A1c.1900G= (p.Val634=)
c.802G= (p.Val268=)
c.1705G= (p.Val569=)
c.1810G= (p.Val604=)
17g.44254653C>GCA399783570SLC4A1c.1900G>C (p.Val634Leu)
c.802G>C (p.Val268Leu)
c.1705G>C (p.Val569Leu)
c.1810G>C (p.Val604Leu)
17g.44254653C>TCA399783573SLC4A1c.1900G>A (p.Val634Met)
c.802G>A (p.Val268Met)
c.1705G>A (p.Val569Met)
c.1810G>A (p.Val604Met)
17g.44254654C>ACA8600168SLC4A1c.1899G>T (p.Ser633=)
c.801G>T (p.Ser267=)
c.1704G>T (p.Ser568=)
c.1809G>T (p.Ser603=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254654C=CA2261308303SLC4A1c.1899G= (p.Ser633=)
c.801G= (p.Ser267=)
c.1704G= (p.Ser568=)
c.1809G= (p.Ser603=)
17g.44254654C>GCA500285879SLC4A1c.1899G>C (p.Ser633=)
c.801G>C (p.Ser267=)
c.1704G>C (p.Ser568=)
c.1809G>C (p.Ser603=)
 gnomAD v4
17g.44254654C>TCA8600167SLC4A1c.1899G>A (p.Ser633=)
c.801G>A (p.Ser267=)
c.1704G>A (p.Ser568=)
c.1809G>A (p.Ser603=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254655G>ACA8600169SLC4A1c.1898C>T (p.Ser633Leu)
c.800C>T (p.Ser267Leu)
c.1703C>T (p.Ser568Leu)
c.1808C>T (p.Ser603Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254655G>CCA399783579SLC4A1c.1898C>G (p.Ser633Trp)
c.800C>G (p.Ser267Trp)
c.1703C>G (p.Ser568Trp)
c.1808C>G (p.Ser603Trp)
 dbSNP gnomAD v3 gnomAD v4
17g.44254655G=CA2261308304SLC4A1c.1898C= (p.Ser633=)
c.800C= (p.Ser267=)
c.1703C= (p.Ser568=)
c.1808C= (p.Ser603=)
17g.44254655G>TCA399783582SLC4A1c.1898C>A (p.Ser633Ter)
c.800C>A (p.Ser267Ter)
c.1703C>A (p.Ser568Ter)
c.1808C>A (p.Ser603Ter)
17g.44254656A=CA2261308305SLC4A1c.1897T= (p.Ser633=)
c.799T= (p.Ser267=)
c.1702T= (p.Ser568=)
c.1807T= (p.Ser603=)
17g.44254656A>CCA399783587SLC4A1c.1897T>G (p.Ser633Ala)
c.799T>G (p.Ser267Ala)
c.1702T>G (p.Ser568Ala)
c.1807T>G (p.Ser603Ala)
17g.44254656A>GCA290928632SLC4A1c.1897T>C (p.Ser633Pro)
c.799T>C (p.Ser267Pro)
c.1702T>C (p.Ser568Pro)
c.1807T>C (p.Ser603Pro)
 dbSNP gnomAD v2
17g.44254656A>TCA399783589SLC4A1c.1897T>A (p.Ser633Thr)
c.799T>A (p.Ser267Thr)
c.1702T>A (p.Ser568Thr)
c.1807T>A (p.Ser603Thr)
17g.44254657G>ACA500285882SLC4A1c.1896C>T (p.Leu632=)
c.798C>T (p.Leu266=)
c.1701C>T (p.Leu567=)
c.1806C>T (p.Leu602=)
17g.44254657G>CCA500285881SLC4A1c.1896C>G (p.Leu632=)
c.798C>G (p.Leu266=)
c.1701C>G (p.Leu567=)
c.1806C>G (p.Leu602=)
 dbSNP
17g.44254657G=CA2261308306SLC4A1c.1896C= (p.Leu632=)
c.798C= (p.Leu266=)
c.1701C= (p.Leu567=)
c.1806C= (p.Leu602=)
17g.44254657G>TCA500285880SLC4A1c.1896C>A (p.Leu632=)
c.798C>A (p.Leu266=)
c.1701C>A (p.Leu567=)
c.1806C>A (p.Leu602=)
17g.44254658A>CCA399783590SLC4A1c.1895T>G (p.Leu632Arg)
c.797T>G (p.Leu266Arg)
c.1700T>G (p.Leu567Arg)
c.1805T>G (p.Leu602Arg)
17g.44254658A>GCA399783594SLC4A1c.1895T>C (p.Leu632Pro)
c.797T>C (p.Leu266Pro)
c.1700T>C (p.Leu567Pro)
c.1805T>C (p.Leu602Pro)
17g.44254658A>TCA399783591SLC4A1c.1895T>A (p.Leu632His)
c.797T>A (p.Leu266His)
c.1700T>A (p.Leu567His)
c.1805T>A (p.Leu602His)
17g.44254659G>ACA399783598SLC4A1c.1894C>T (p.Leu632Phe)
c.796C>T (p.Leu266Phe)
c.1699C>T (p.Leu567Phe)
c.1804C>T (p.Leu602Phe)
17g.44254659G>CCA399783608SLC4A1c.1894C>G (p.Leu632Val)
c.796C>G (p.Leu266Val)
c.1699C>G (p.Leu567Val)
c.1804C>G (p.Leu602Val)
 gnomAD v4
17g.44254659G>TCA399783605SLC4A1c.1894C>A (p.Leu632Ile)
c.796C>A (p.Leu266Ile)
c.1699C>A (p.Leu567Ile)
c.1804C>A (p.Leu602Ile)
17g.44254660T>ACA399783612SLC4A1c.1893A>T (p.Lys631Asn)
c.795A>T (p.Lys265Asn)
c.1698A>T (p.Lys566Asn)
c.1803A>T (p.Lys601Asn)
17g.44254660T>CCA500285883SLC4A1c.1893A>G (p.Lys631=)
c.795A>G (p.Lys265=)
c.1698A>G (p.Lys566=)
c.1803A>G (p.Lys601=)
17g.44254660T>GCA399783614SLC4A1c.1893A>C (p.Lys631Asn)
c.795A>C (p.Lys265Asn)
c.1698A>C (p.Lys566Asn)
c.1803A>C (p.Lys601Asn)
17g.44254662dupCA2580093863SLC4A1c.1893dup (p.Leu632ThrfsTer5)
c.795dup (p.Leu266ThrfsTer5)
c.1698dup (p.Leu567ThrfsTer5)
c.1803dup (p.Leu602ThrfsTer5)
 ClinVar
17g.44254661T>ACA399783618SLC4A1c.1892A>T (p.Lys631Ile)
c.794A>T (p.Lys265Ile)
c.1697A>T (p.Lys566Ile)
c.1802A>T (p.Lys601Ile)
17g.44254661T>CCA399783621SLC4A1c.1892A>G (p.Lys631Arg)
c.794A>G (p.Lys265Arg)
c.1697A>G (p.Lys566Arg)
c.1802A>G (p.Lys601Arg)
17g.44254661T>GCA399783623SLC4A1c.1892A>C (p.Lys631Thr)
c.794A>C (p.Lys265Thr)
c.1697A>C (p.Lys566Thr)
c.1802A>C (p.Lys601Thr)
17g.44254662T>ACA399783626SLC4A1c.1891A>T (p.Lys631Ter)
c.793A>T (p.Lys265Ter)
c.1696A>T (p.Lys566Ter)
c.1801A>T (p.Lys601Ter)
17g.44254662T>CCA399783628SLC4A1c.1891A>G (p.Lys631Glu)
c.793A>G (p.Lys265Glu)
c.1696A>G (p.Lys566Glu)
c.1801A>G (p.Lys601Glu)
17g.44254662T>GCA399783631SLC4A1c.1891A>C (p.Lys631Gln)
c.793A>C (p.Lys265Gln)
c.1696A>C (p.Lys566Gln)
c.1801A>C (p.Lys601Gln)
17g.44254663C>ACA399783636SLC4A1c.1891-1G>T (n.1891-1G>T)
c.793-1G>T (n.793-1G>T)
c.1696-1G>T (n.1696-1G>T)
c.1801-1G>T (n.1801-1G>T)
17g.44254663C>GCA399783638SLC4A1c.1891-1G>C (n.1891-1G>C)
c.793-1G>C (n.793-1G>C)
c.1696-1G>C (n.1696-1G>C)
c.1801-1G>C (n.1801-1G>C)
17g.44254663C>TCA399783641SLC4A1c.1891-1G>A (n.1891-1G>A)
c.793-1G>A (n.793-1G>A)
c.1696-1G>A (n.1696-1G>A)
c.1801-1G>A (n.1801-1G>A)
 gnomAD v4
17g.44254664T>ACA399783647SLC4A1c.1891-2A>T (n.1891-2A>T)
c.793-2A>T (n.793-2A>T)
c.1696-2A>T (n.1696-2A>T)
c.1801-2A>T (n.1801-2A>T)
17g.44254664T>CCA399783651SLC4A1c.1891-2A>G (n.1891-2A>G)
c.793-2A>G (n.793-2A>G)
c.1696-2A>G (n.1696-2A>G)
c.1801-2A>G (n.1801-2A>G)
 COSMIC
17g.44254664T>GCA399783654SLC4A1c.1891-2A>C (n.1891-2A>C)
c.793-2A>C (n.793-2A>C)
c.1696-2A>C (n.1696-2A>C)
c.1801-2A>C (n.1801-2A>C)
17g.44254667G>ACA2638191308SLC4A1c.1891-5C>T (n.1891-5C>T)
c.793-5C>T (n.793-5C>T)
c.1696-5C>T (n.1696-5C>T)
c.1801-5C>T (n.1801-5C>T)
 gnomAD v4
17g.44254668G>ACA645593068SLC4A1c.1891-6C>T (n.1891-6C>T)
c.793-6C>T (n.793-6C>T)
c.1696-6C>T (n.1696-6C>T)
c.1801-6C>T (n.1801-6C>T)
 COSMIC
17g.44254669G>ACA8600170SLC4A1c.1891-7C>T (n.1891-7C>T)
c.793-7C>T (n.793-7C>T)
c.1696-7C>T (n.1696-7C>T)
c.1801-7C>T (n.1801-7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254669G=CA2261308307SLC4A1c.1891-7C= (n.1891-7C=)
c.793-7C= (n.793-7C=)
c.1696-7C= (n.1696-7C=)
c.1801-7C= (n.1801-7C=)
17g.44254670A=CA2261308308SLC4A1c.1891-8T= (n.1891-8T=)
c.793-8T= (n.793-8T=)
c.1696-8T= (n.1696-8T=)
c.1801-8T= (n.1801-8T=)
17g.44254670A>CCA8600171SLC4A1c.1891-8T>G (n.1891-8T>G)
c.793-8T>G (n.793-8T>G)
c.1696-8T>G (n.1696-8T>G)
c.1801-8T>G (n.1801-8T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254671G>ACA8600172SLC4A1c.1891-9C>T (n.1891-9C>T)
c.793-9C>T (n.793-9C>T)
c.1696-9C>T (n.1696-9C>T)
c.1801-9C>T (n.1801-9C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254671G>CCA772279139SLC4A1c.1891-9C>G (n.1891-9C>G)
c.793-9C>G (n.793-9C>G)
c.1696-9C>G (n.1696-9C>G)
c.1801-9C>G (n.1801-9C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44254671G=CA2261308310SLC4A1c.1891-9C= (n.1891-9C=)
c.793-9C= (n.793-9C=)
c.1696-9C= (n.1696-9C=)
c.1801-9C= (n.1801-9C=)
17g.44254675dupCA2261308309SLC4A1c.1891-9dup (n.1891-9dup)
c.793-9dup (n.793-9dup)
c.1696-9dup (n.1696-9dup)
c.1801-9dup (n.1801-9dup)
 dbSNP
17g.44254672G>ACA8600174SLC4A1c.1891-10C>T (n.1891-10C>T)
c.793-10C>T (n.793-10C>T)
c.1696-10C>T (n.1696-10C>T)
c.1801-10C>T (n.1801-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254672G>CCA8600173SLC4A1c.1891-10C>G (n.1891-10C>G)
c.793-10C>G (n.793-10C>G)
c.1696-10C>G (n.1696-10C>G)
c.1801-10C>G (n.1801-10C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254672G=CA2261308311SLC4A1c.1891-10C= (n.1891-10C=)
c.793-10C= (n.793-10C=)
c.1696-10C= (n.1696-10C=)
c.1801-10C= (n.1801-10C=)
17g.44254672G>TCA2638191309SLC4A1c.1891-10C>A (n.1891-10C>A)
c.793-10C>A (n.793-10C>A)
c.1696-10C>A (n.1696-10C>A)
c.1801-10C>A (n.1801-10C>A)
 gnomAD v4
17g.44254674G>CCA2638191310SLC4A1c.1891-12C>G (n.1891-12C>G)
c.793-12C>G (n.793-12C>G)
c.1696-12C>G (n.1696-12C>G)
c.1801-12C>G (n.1801-12C>G)
 gnomAD v4
17g.44254674G>TCA2638191311SLC4A1c.1891-12C>A (n.1891-12C>A)
c.793-12C>A (n.793-12C>A)
c.1696-12C>A (n.1696-12C>A)
c.1801-12C>A (n.1801-12C>A)
 dbSNP gnomAD v4
17g.44254675G>ACA2638191312SLC4A1c.1891-13C>T (n.1891-13C>T)
c.793-13C>T (n.793-13C>T)
c.1696-13C>T (n.1696-13C>T)
c.1801-13C>T (n.1801-13C>T)
 gnomAD v4
17g.44254675G>CCA2638191313SLC4A1c.1891-13C>G (n.1891-13C>G)
c.793-13C>G (n.793-13C>G)
c.1696-13C>G (n.1696-13C>G)
c.1801-13C>G (n.1801-13C>G)
 gnomAD v4
17g.44254676T>CCA984004679SLC4A1c.1891-14A>G (n.1891-14A>G)
c.793-14A>G (n.793-14A>G)
c.1696-14A>G (n.1696-14A>G)
c.1801-14A>G (n.1801-14A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44254676T>GCA984004680SLC4A1c.1891-14A>C (n.1891-14A>C)
c.793-14A>C (n.793-14A>C)
c.1696-14A>C (n.1696-14A>C)
c.1801-14A>C (n.1801-14A>C)
 dbSNP gnomAD v3 gnomAD v4
17g.44254676T=CA2261308312SLC4A1c.1891-14A= (n.1891-14A=)
c.793-14A= (n.793-14A=)
c.1696-14A= (n.1696-14A=)
c.1801-14A= (n.1801-14A=)
17g.44254678G>ACA2638191314SLC4A1c.1891-16C>T (n.1891-16C>T)
c.793-16C>T (n.793-16C>T)
c.1696-16C>T (n.1696-16C>T)
c.1801-16C>T (n.1801-16C>T)
 gnomAD v4
17g.44254681G>ACA2638191315SLC4A1c.1891-19C>T (n.1891-19C>T)
c.793-19C>T (n.793-19C>T)
c.1696-19C>T (n.1696-19C>T)
c.1801-19C>T (n.1801-19C>T)
 gnomAD v4
17g.44254681G=CA2261308313SLC4A1c.1891-19C= (n.1891-19C=)
c.793-19C= (n.793-19C=)
c.1696-19C= (n.1696-19C=)
c.1801-19C= (n.1801-19C=)
17g.44254681G>TCA2261308314SLC4A1c.1891-19C>A (n.1891-19C>A)
c.793-19C>A (n.793-19C>A)
c.1696-19C>A (n.1696-19C>A)
c.1801-19C>A (n.1801-19C>A)
 dbSNP
17g.44254686G>ACA772279142SLC4A1c.1891-24C>T (n.1891-24C>T)
c.793-24C>T (n.793-24C>T)
c.1696-24C>T (n.1696-24C>T)
c.1801-24C>T (n.1801-24C>T)
 dbSNP gnomAD v4
17g.44254686G=CA2261308315SLC4A1c.1891-24C= (n.1891-24C=)
c.793-24C= (n.793-24C=)
c.1696-24C= (n.1696-24C=)
c.1801-24C= (n.1801-24C=)
17g.44254687A=CA2261308316SLC4A1c.1891-25T= (n.1891-25T=)
c.793-25T= (n.793-25T=)
c.1696-25T= (n.1696-25T=)
c.1801-25T= (n.1801-25T=)
17g.44254687A>GCA626124752SLC4A1c.1891-25T>C (n.1891-25T>C)
c.793-25T>C (n.793-25T>C)
c.1696-25T>C (n.1696-25T>C)
c.1801-25T>C (n.1801-25T>C)
 dbSNP gnomAD v2
17g.44254689T>CCA2638191316SLC4A1c.1891-27A>G (n.1891-27A>G)
c.793-27A>G (n.793-27A>G)
c.1696-27A>G (n.1696-27A>G)
c.1801-27A>G (n.1801-27A>G)
 gnomAD v4
17g.44254690G>ACA2638191317SLC4A1c.1891-28C>T (n.1891-28C>T)
c.793-28C>T (n.793-28C>T)
c.1696-28C>T (n.1696-28C>T)
c.1801-28C>T (n.1801-28C>T)
 gnomAD v4
17g.44254691C>TCA2638191318SLC4A1c.1891-29G>A (n.1891-29G>A)
c.793-29G>A (n.793-29G>A)
c.1696-29G>A (n.1696-29G>A)
c.1801-29G>A (n.1801-29G>A)
 gnomAD v4
17g.44254695G>ACA2261308318SLC4A1c.1891-33C>T (n.1891-33C>T)
c.793-33C>T (n.793-33C>T)
c.1696-33C>T (n.1696-33C>T)
c.1801-33C>T (n.1801-33C>T)
 dbSNP gnomAD v4
17g.44254695G=CA2261308317SLC4A1c.1891-33C= (n.1891-33C=)
c.793-33C= (n.793-33C=)
c.1696-33C= (n.1696-33C=)
c.1801-33C= (n.1801-33C=)
17g.44254697G>TCA2638191319SLC4A1c.1891-35C>A (n.1891-35C>A)
c.793-35C>A (n.793-35C>A)
c.1696-35C>A (n.1696-35C>A)
c.1801-35C>A (n.1801-35C>A)
 gnomAD v4
17g.44254698C>ACA2638191320SLC4A1c.1891-36G>T (n.1891-36G>T)
c.793-36G>T (n.793-36G>T)
c.1696-36G>T (n.1696-36G>T)
c.1801-36G>T (n.1801-36G>T)
 gnomAD v4
17g.44254699A=CA2261308319SLC4A1c.1891-37T= (n.1891-37T=)
c.793-37T= (n.793-37T=)
c.1696-37T= (n.1696-37T=)
c.1801-37T= (n.1801-37T=)
17g.44254699A>GCA2638191321SLC4A1c.1891-37T>C (n.1891-37T>C)
c.793-37T>C (n.793-37T>C)
c.1696-37T>C (n.1696-37T>C)
c.1801-37T>C (n.1801-37T>C)
 gnomAD v4
17g.44254699A>TCA290928672SLC4A1c.1891-37T>A (n.1891-37T>A)
c.793-37T>A (n.793-37T>A)
c.1696-37T>A (n.1696-37T>A)
c.1801-37T>A (n.1801-37T>A)
 dbSNP gnomAD v4
17g.44254700G>TCA2638191322SLC4A1c.1891-38C>A (n.1891-38C>A)
c.793-38C>A (n.793-38C>A)
c.1696-38C>A (n.1696-38C>A)
c.1801-38C>A (n.1801-38C>A)
 gnomAD v4
17g.44254701G>ACA984004682SLC4A1c.1891-39C>T (n.1891-39C>T)
c.793-39C>T (n.793-39C>T)
c.1696-39C>T (n.1696-39C>T)
c.1801-39C>T (n.1801-39C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.44254701G=CA2261308320SLC4A1c.1891-39C= (n.1891-39C=)
c.793-39C= (n.793-39C=)
c.1696-39C= (n.1696-39C=)
c.1801-39C= (n.1801-39C=)
17g.44254701G>TCA2638191323SLC4A1c.1891-39C>A (n.1891-39C>A)
c.793-39C>A (n.793-39C>A)
c.1696-39C>A (n.1696-39C>A)
c.1801-39C>A (n.1801-39C>A)
 gnomAD v4
17g.44254703G>ACA8600175SLC4A1c.1891-41C>T (n.1891-41C>T)
c.793-41C>T (n.793-41C>T)
c.1696-41C>T (n.1696-41C>T)
c.1801-41C>T (n.1801-41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254703G=CA2261308321SLC4A1c.1891-41C= (n.1891-41C=)
c.793-41C= (n.793-41C=)
c.1696-41C= (n.1696-41C=)
c.1801-41C= (n.1801-41C=)
17g.44254703G>TCA2638191324SLC4A1c.1891-41C>A (n.1891-41C>A)
c.793-41C>A (n.793-41C>A)
c.1696-41C>A (n.1696-41C>A)
c.1801-41C>A (n.1801-41C>A)
 gnomAD v4
17g.44254704G>TCA2638191325SLC4A1c.1891-42C>A (n.1891-42C>A)
c.793-42C>A (n.793-42C>A)
c.1696-42C>A (n.1696-42C>A)
c.1801-42C>A (n.1801-42C>A)
 gnomAD v4
17g.44254705A>GCA2576289184SLC4A1c.1891-43T>C (n.1891-43T>C)
c.793-43T>C (n.793-43T>C)
c.1696-43T>C (n.1696-43T>C)
c.1801-43T>C (n.1801-43T>C)
 gnomAD v4
17g.44254707G>ACA2638191326SLC4A1c.1891-45C>T (n.1891-45C>T)
c.793-45C>T (n.793-45C>T)
c.1696-45C>T (n.1696-45C>T)
c.1801-45C>T (n.1801-45C>T)
 gnomAD v4
17g.44254707G>TCA2638191327SLC4A1c.1891-45C>A (n.1891-45C>A)
c.793-45C>A (n.793-45C>A)
c.1696-45C>A (n.1696-45C>A)
c.1801-45C>A (n.1801-45C>A)
 gnomAD v4
17g.44254708G>ACA8600176SLC4A1c.1891-46C>T (n.1891-46C>T)
c.793-46C>T (n.793-46C>T)
c.1696-46C>T (n.1696-46C>T)
c.1801-46C>T (n.1801-46C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254708G=CA2261308322SLC4A1c.1891-46C= (n.1891-46C=)
c.793-46C= (n.793-46C=)
c.1696-46C= (n.1696-46C=)
c.1801-46C= (n.1801-46C=)
17g.44254708G>TCA2638191328SLC4A1c.1891-46C>A (n.1891-46C>A)
c.793-46C>A (n.793-46C>A)
c.1696-46C>A (n.1696-46C>A)
c.1801-46C>A (n.1801-46C>A)
 gnomAD v4
17g.44254709G>TCA2638191329SLC4A1c.1891-47C>A (n.1891-47C>A)
c.793-47C>A (n.793-47C>A)
c.1696-47C>A (n.1696-47C>A)
c.1801-47C>A (n.1801-47C>A)
 gnomAD v4
17g.44254710G>TCA2638191330SLC4A1c.1891-48C>A (n.1891-48C>A)
c.793-48C>A (n.793-48C>A)
c.1696-48C>A (n.1696-48C>A)
c.1801-48C>A (n.1801-48C>A)
 gnomAD v4
17g.44254712A>GCA2638191331SLC4A1c.1891-50T>C (n.1891-50T>C)
c.793-50T>C (n.793-50T>C)
c.1696-50T>C (n.1696-50T>C)
c.1801-50T>C (n.1801-50T>C)
 gnomAD v4
17g.44254713G>ACA2638191332SLC4A1c.1891-51C>T (n.1891-51C>T)
c.793-51C>T (n.793-51C>T)
c.1696-51C>T (n.1696-51C>T)
c.1801-51C>T (n.1801-51C>T)
 gnomAD v4
17g.44254713G>TCA2638191333SLC4A1c.1891-51C>A (n.1891-51C>A)
c.793-51C>A (n.793-51C>A)
c.1696-51C>A (n.1696-51C>A)
c.1801-51C>A (n.1801-51C>A)
 gnomAD v4
17g.44254714G>ACA2638191334SLC4A1c.1891-52C>T (n.1891-52C>T)
c.793-52C>T (n.793-52C>T)
c.1696-52C>T (n.1696-52C>T)
c.1801-52C>T (n.1801-52C>T)
 gnomAD v4
17g.44254714G>TCA2576289185SLC4A1c.1891-52C>A (n.1891-52C>A)
c.793-52C>A (n.793-52C>A)
c.1696-52C>A (n.1696-52C>A)
c.1801-52C>A (n.1801-52C>A)
 gnomAD v4
17g.44254715G>ACA290928694SLC4A1c.1891-53C>T (n.1891-53C>T)
c.793-53C>T (n.793-53C>T)
c.1696-53C>T (n.1696-53C>T)
c.1801-53C>T (n.1801-53C>T)
 dbSNP gnomAD v4
17g.44254715G=CA2261308323SLC4A1c.1891-53C= (n.1891-53C=)
c.793-53C= (n.793-53C=)
c.1696-53C= (n.1696-53C=)
c.1801-53C= (n.1801-53C=)
17g.44254715G>TCA2638191335SLC4A1c.1891-53C>A (n.1891-53C>A)
c.793-53C>A (n.793-53C>A)
c.1696-53C>A (n.1696-53C>A)
c.1801-53C>A (n.1801-53C>A)
 gnomAD v4
17g.44254716T>GCA2261308325SLC4A1c.1891-54A>C (n.1891-54A>C)
c.793-54A>C (n.793-54A>C)
c.1696-54A>C (n.1696-54A>C)
c.1801-54A>C (n.1801-54A>C)
 dbSNP
17g.44254716T=CA2261308324SLC4A1c.1891-54A= (n.1891-54A=)
c.793-54A= (n.793-54A=)
c.1696-54A= (n.1696-54A=)
c.1801-54A= (n.1801-54A=)
17g.44254717G>ACA2576289186SLC4A1c.1891-55C>T (n.1891-55C>T)
c.793-55C>T (n.793-55C>T)
c.1696-55C>T (n.1696-55C>T)
c.1801-55C>T (n.1801-55C>T)
 gnomAD v4
17g.44254717G>TCA2638191336SLC4A1c.1891-55C>A (n.1891-55C>A)
c.793-55C>A (n.793-55C>A)
c.1696-55C>A (n.1696-55C>A)
c.1801-55C>A (n.1801-55C>A)
 gnomAD v4
17g.44254718G>ACA290928703SLC4A1c.1891-56C>T (n.1891-56C>T)
c.793-56C>T (n.793-56C>T)
c.1696-56C>T (n.1696-56C>T)
c.1801-56C>T (n.1801-56C>T)
 dbSNP gnomAD v4
17g.44254718G=CA2261308326SLC4A1c.1891-56C= (n.1891-56C=)
c.793-56C= (n.793-56C=)
c.1696-56C= (n.1696-56C=)
c.1801-56C= (n.1801-56C=)
17g.44254719G>ACA2576289187SLC4A1c.1891-57C>T (n.1891-57C>T)
c.793-57C>T (n.793-57C>T)
c.1696-57C>T (n.1696-57C>T)
c.1801-57C>T (n.1801-57C>T)
 gnomAD v4
17g.44254719G>TCA2638191337SLC4A1c.1891-57C>A (n.1891-57C>A)
c.793-57C>A (n.793-57C>A)
c.1696-57C>A (n.1696-57C>A)
c.1801-57C>A (n.1801-57C>A)
 gnomAD v4
17g.44254720A>GCA2638191338SLC4A1c.1891-58T>C (n.1891-58T>C)
c.793-58T>C (n.793-58T>C)
c.1696-58T>C (n.1696-58T>C)
c.1801-58T>C (n.1801-58T>C)
 gnomAD v4

Number of alleles fetched