Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107702006C>A | CA132687 | SLC26A4 | c.1983C>A (p.Asp661Glu) c.694C>A n.270C>A c.1905C>A (p.Asp635Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702006C= | CA1732759462 | SLC26A4 | c.1983C= (p.Asp661=) c.694C= n.270C= c.1905C= (p.Asp635=) | |
7 | g.107702006C>G | CA368843768 | SLC26A4 | c.1983C>G (p.Asp661Glu) c.694C>G n.270C>G c.1905C>G (p.Asp635Glu) | |
7 | g.107702006C>T | CA457103856 | SLC26A4 | c.1983C>T (p.Asp661=) c.694C>T n.270C>T c.1905C>T (p.Asp635=) | gnomAD v4 |
7 | g.107702008_107702021del | CA2580076173 | SLC26A4 | c.1985_1998del (p.Cys662PhefsTer21) c.696_709del n.272_285del c.1907_1920del (p.Cys636PhefsTer21) | ClinVar |
7 | g.107702007T>A | CA368843771 | SLC26A4 | c.1984T>A (p.Cys662Ser) c.695T>A n.271T>A c.1906T>A (p.Cys636Ser) | |
7 | g.107702007T>C | CA368843770 | SLC26A4 | c.1984T>C (p.Cys662Arg) c.695T>C n.271T>C c.1906T>C (p.Cys636Arg) | |
7 | g.107702007T>G | CA368843769 | SLC26A4 | c.1984T>G (p.Cys662Gly) c.695T>G n.271T>G c.1906T>G (p.Cys636Gly) | gnomAD v4 |
7 | g.107702007dup | CA831169597 | SLC26A4 | c.1984dup (p.Cys662LeufsTer26) c.695dup n.271dup c.1906dup (p.Cys636LeufsTer26) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107702008G>A | CA368843772 | SLC26A4 | c.1985G>A (p.Cys662Tyr) c.696G>A n.272G>A c.1907G>A (p.Cys636Tyr) | ClinVar dbSNP |
7 | g.107702008G>C | CA368843773 | SLC26A4 | c.1985G>C (p.Cys662Ser) c.696G>C n.272G>C c.1907G>C (p.Cys636Ser) | |
7 | g.107702008G>T | CA368843774 | SLC26A4 | c.1985G>T (p.Cys662Phe) c.696G>T n.272G>T c.1907G>T (p.Cys636Phe) | |
7 | g.107702009T>A | CA368843775 | SLC26A4 | c.1986T>A (p.Cys662Ter) c.697T>A n.273T>A c.1908T>A (p.Cys636Ter) | |
7 | g.107702009T>C | CA457103857 | SLC26A4 | c.1986T>C (p.Cys662=) c.697T>C n.273T>C c.1908T>C (p.Cys636=) | ClinVar |
7 | g.107702009T>G | CA368843776 | SLC26A4 | c.1986T>G (p.Cys662Trp) c.697T>G n.273T>G c.1908T>G (p.Cys636Trp) | gnomAD v4 |
7 | g.107702010G>A | CA368843777 | SLC26A4 | c.1987G>A (p.Gly663Arg) c.698G>A n.274G>A c.1909G>A (p.Gly637Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.107702010G>C | CA368843778 | SLC26A4 | c.1987G>C (p.Gly663Arg) c.698G>C n.274G>C c.1909G>C (p.Gly637Arg) | |
7 | g.107702010G= | CA1732759473 | SLC26A4 | c.1987G= (p.Gly663=) c.698G= n.274G= c.1909G= (p.Gly637=) | |
7 | g.107702010G>T | CA368843779 | SLC26A4 | c.1987G>T (p.Gly663Ter) c.698G>T n.274G>T c.1909G>T (p.Gly637Ter) | |
7 | g.107702011G>A | CA368843780 | SLC26A4 | c.1988G>A (p.Gly663Glu) c.699G>A n.275G>A c.1910G>A (p.Gly637Glu) | dbSNP gnomAD v4 |
7 | g.107702011G>C | CA368843781 | SLC26A4 | c.1988G>C (p.Gly663Ala) c.699G>C n.275G>C c.1910G>C (p.Gly637Ala) | |
7 | g.107702011G= | CA1732759476 | SLC26A4 | c.1988G= (p.Gly663=) c.699G= n.275G= c.1910G= (p.Gly637=) | |
7 | g.107702011G>T | CA368843782 | SLC26A4 | c.1988G>T (p.Gly663Val) c.699G>T n.275G>T c.1910G>T (p.Gly637Val) | |
7 | g.107702012A>C | CA457103860 | SLC26A4 | c.1989A>C (p.Gly663=) c.700A>C n.276A>C c.1911A>C (p.Gly637=) | |
7 | g.107702012A>G | CA457103859 | SLC26A4 | c.1989A>G (p.Gly663=) c.700A>G n.276A>G c.1911A>G (p.Gly637=) | |
7 | g.107702012A>T | CA457103858 | SLC26A4 | c.1989A>T (p.Gly663=) c.700A>T n.276A>T c.1911A>T (p.Gly637=) | |
7 | g.107702013G>A | CA368843785 | SLC26A4 | c.1990G>A (p.Ala664Thr) c.701G>A n.277G>A c.1912G>A (p.Ala638Thr) | dbSNP |
7 | g.107702013G>C | CA368843784 | SLC26A4 | c.1990G>C (p.Ala664Pro) c.701G>C n.277G>C c.1912G>C (p.Ala638Pro) | |
7 | g.107702013G= | CA1732759478 | SLC26A4 | c.1990G= (p.Ala664=) c.701G= n.277G= c.1912G= (p.Ala638=) | |
7 | g.107702013G>T | CA368843783 | SLC26A4 | c.1990G>T (p.Ala664Ser) c.701G>T n.277G>T c.1912G>T (p.Ala638Ser) | |
7 | g.107702014C>A | CA368843786 | SLC26A4 | c.1991C>A (p.Ala664Asp) c.702C>A n.278C>A c.1913C>A (p.Ala638Asp) | gnomAD v4 |
7 | g.107702014C>G | CA368843787 | SLC26A4 | c.1991C>G (p.Ala664Gly) c.702C>G n.278C>G c.1913C>G (p.Ala638Gly) | |
7 | g.107702014C>T | CA368843788 | SLC26A4 | c.1991C>T (p.Ala664Val) c.702C>T n.278C>T c.1913C>T (p.Ala638Val) | ClinVar dbSNP gnomAD v4 |
7 | g.107702015T>A | CA457103861 | SLC26A4 | c.1992T>A (p.Ala664=) c.703T>A n.279T>A c.1914T>A (p.Ala638=) | |
7 | g.107702015T>C | CA457103862 | SLC26A4 | c.1992T>C (p.Ala664=) c.703T>C n.279T>C c.1914T>C (p.Ala638=) | |
7 | g.107702015T>G | CA457103863 | SLC26A4 | c.1992T>G (p.Ala664=) c.703T>G n.279T>G c.1914T>G (p.Ala638=) | |
7 | g.107702016A= | CA1732759482 | SLC26A4 | c.1993A= (p.Ile665=) c.704A= n.280A= c.1915A= (p.Ile639=) | |
7 | g.107702016A>C | CA368843789 | SLC26A4 | c.1993A>C (p.Ile665Leu) c.704A>C n.280A>C c.1915A>C (p.Ile639Leu) | |
7 | g.107702016A>G | CA4432992 | SLC26A4 | c.1993A>G (p.Ile665Val) c.704A>G n.280A>G c.1915A>G (p.Ile639Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702016A>T | CA368843790 | SLC26A4 | c.1993A>T (p.Ile665Leu) c.704A>T n.280A>T c.1915A>T (p.Ile639Leu) | |
7 | g.107702017T>A | CA368843793 | SLC26A4 | c.1994T>A (p.Ile665Lys) c.705T>A n.281T>A c.1916T>A (p.Ile639Lys) | |
7 | g.107702017T>C | CA368843791 | SLC26A4 | c.1994T>C (p.Ile665Thr) c.705T>C n.281T>C c.1916T>C (p.Ile639Thr) | dbSNP |
7 | g.107702017T>G | CA368843792 | SLC26A4 | c.1994T>G (p.Ile665Arg) c.705T>G n.281T>G c.1916T>G (p.Ile639Arg) | |
7 | g.107702017T= | CA1732759491 | SLC26A4 | c.1994T= (p.Ile665=) c.705T= n.281T= c.1916T= (p.Ile639=) | |
7 | g.107702018A= | CA1732759497 | SLC26A4 | c.1995A= (p.Ile665=) c.706A= n.282A= c.1917A= (p.Ile639=) | |
7 | g.107702018A>C | CA4432993 | SLC26A4 | c.1995A>C (p.Ile665=) c.706A>C n.282A>C c.1917A>C (p.Ile639=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702018A>G | CA368843794 | SLC26A4 | c.1995A>G (p.Ile665Met) c.706A>G n.282A>G c.1917A>G (p.Ile639Met) | dbSNP gnomAD v4 |
7 | g.107702018A>T | CA457103864 | SLC26A4 | c.1995A>T (p.Ile665=) c.706A>T n.282A>T c.1917A>T (p.Ile639=) | |
7 | g.107702019T>A | CA132689 | SLC26A4 | c.1996T>A (p.Ser666Thr) c.707T>A n.283T>A c.1918T>A (p.Ser640Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702019T>C | CA4432994 | SLC26A4 | c.1996T>C (p.Ser666Pro) c.707T>C n.283T>C c.1918T>C (p.Ser640Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107702019T>G | CA368843795 | SLC26A4 | c.1996T>G (p.Ser666Ala) c.707T>G n.283T>G c.1918T>G (p.Ser640Ala) | |
7 | g.107702019T= | CA1732759504 | SLC26A4 | c.1996T= (p.Ser666=) c.707T= n.283T= c.1918T= (p.Ser640=) | |
7 | g.107702020C>A | CA368843796 | SLC26A4 | c.1997C>A (p.Ser666Tyr) c.708C>A n.284C>A c.1919C>A (p.Ser640Tyr) | gnomAD v4 |
7 | g.107702020C= | CA1732759511 | SLC26A4 | c.1997C= (p.Ser666=) c.708C= n.284C= c.1919C= (p.Ser640=) | |
7 | g.107702020C>G | CA368843798 | SLC26A4 | c.1997C>G (p.Ser666Cys) c.708C>G n.284C>G c.1919C>G (p.Ser640Cys) | |
7 | g.107702020C>T | CA368843797 | SLC26A4 | c.1997C>T (p.Ser666Phe) c.708C>T n.284C>T c.1919C>T (p.Ser640Phe) | ClinVar dbSNP |
7 | g.107702021T>A | CA457103865 | SLC26A4 | c.1998T>A (p.Ser666=) c.709T>A n.285T>A c.1920T>A (p.Ser640=) | ClinVar |
7 | g.107702021T>C | CA4432995 | SLC26A4 | c.1998T>C (p.Ser666=) c.709T>C n.285T>C c.1920T>C (p.Ser640=) | dbSNP ExAC gnomAD v2 |
7 | g.107702021T>G | CA457103866 | SLC26A4 | c.1998T>G (p.Ser666=) c.709T>G n.285T>G c.1920T>G (p.Ser640=) | |
7 | g.107702021T= | CA1732759515 | SLC26A4 | c.1998T= (p.Ser666=) c.709T= n.285T= c.1920T= (p.Ser640=) | |
7 | g.107702022T>A | CA368843799 | SLC26A4 | c.1999T>A (p.Phe667Ile) c.710T>A n.286T>A c.1921T>A (p.Phe641Ile) | |
7 | g.107702022T>C | CA368843800 | SLC26A4 | c.1999T>C (p.Phe667Leu) c.710T>C n.286T>C c.1921T>C (p.Phe641Leu) | ClinVar |
7 | g.107702022T>G | CA368843801 | SLC26A4 | c.1999T>G (p.Phe667Val) c.710T>G n.286T>G c.1921T>G (p.Phe641Val) | |
7 | g.107702023T>A | CA368843802 | SLC26A4 | c.2000T>A (p.Phe667Tyr) c.711T>A n.287T>A c.1922T>A (p.Phe641Tyr) | |
7 | g.107702023T>C | CA368843803 | SLC26A4 | c.2000T>C (p.Phe667Ser) c.711T>C n.287T>C c.1922T>C (p.Phe641Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.107702023T>G | CA253303 | SLC26A4 | c.2000T>G (p.Phe667Cys) c.711T>G n.287T>G c.1922T>G (p.Phe641Cys) | ClinVar dbSNP |
7 | g.107702023T= | CA1732759521 | SLC26A4 | c.2000T= (p.Phe667=) c.711T= n.287T= c.1922T= (p.Phe641=) | |
7 | g.107702024C>A | CA368843804 | SLC26A4 | c.2001C>A (p.Phe667Leu) c.712C>A n.288C>A c.1923C>A (p.Phe641Leu) | |
7 | g.107702024C>G | CA368843805 | SLC26A4 | c.2001C>G (p.Phe667Leu) c.712C>G n.288C>G c.1923C>G (p.Phe641Leu) | |
7 | g.107702024C>T | CA457103867 | SLC26A4 | c.2001C>T (p.Phe667=) c.712C>T n.288C>T c.1923C>T (p.Phe641=) | |
7 | g.107702025C>A | CA368843806 | SLC26A4 | c.2002C>A (p.Leu668Met) c.713C>A n.289C>A c.1924C>A (p.Leu642Met) | |
7 | g.107702025C>G | CA368843807 | SLC26A4 | c.2002C>G (p.Leu668Val) c.713C>G n.289C>G c.1924C>G (p.Leu642Val) | |
7 | g.107702025C>T | CA457103868 | SLC26A4 | c.2002C>T (p.Leu668=) c.713C>T n.289C>T c.1924C>T (p.Leu642=) | |
7 | g.107702026T>A | CA368843809 | SLC26A4 | c.2003T>A (p.Leu668Gln) c.714T>A n.290T>A c.1925T>A (p.Leu642Gln) | |
7 | g.107702026T>C | CA180675 | SLC26A4 | c.2003T>C (p.Leu668Pro) c.714T>C n.290T>C c.1925T>C (p.Leu642Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702026T>G | CA368843808 | SLC26A4 | c.2003T>G (p.Leu668Arg) c.714T>G n.290T>G c.1925T>G (p.Leu642Arg) | |
7 | g.107702026T= | CA1732759527 | SLC26A4 | c.2003T= (p.Leu668=) c.714T= n.290T= c.1925T= (p.Leu642=) | |
7 | g.107702027G>A | CA457103869 | SLC26A4 | c.2004G>A (p.Leu668=) c.715G>A n.291G>A c.1926G>A (p.Leu642=) | gnomAD v4 |
7 | g.107702027G>C | CA457103870 | SLC26A4 | c.2004G>C (p.Leu668=) c.715G>C n.291G>C c.1926G>C (p.Leu642=) | |
7 | g.107702027G= | CA1732759532 | SLC26A4 | c.2004G= (p.Leu668=) c.715G= n.291G= c.1926G= (p.Leu642=) | |
7 | g.107702027G>T | CA457103871 | SLC26A4 | c.2004G>T (p.Leu668=) c.715G>T n.291G>T c.1926G>T (p.Leu642=) | |
7 | g.107702028G>A | CA4432996 | SLC26A4 | c.2005G>A (p.Asp669Asn) c.716G>A n.292G>A c.1927G>A (p.Asp643Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702028G>C | CA368843810 | SLC26A4 | c.2005G>C (p.Asp669His) c.716G>C n.292G>C c.1927G>C (p.Asp643His) | dbSNP |
7 | g.107702028G= | CA1732759539 | SLC26A4 | c.2005G= (p.Asp669=) c.716G= n.292G= c.1927G= (p.Asp643=) | |
7 | g.107702028G>T | CA368843811 | SLC26A4 | c.2005G>T (p.Asp669Tyr) c.716G>T n.292G>T c.1927G>T (p.Asp643Tyr) | |
7 | g.107702028_107702029dup | CA831169634 | SLC26A4 | c.2005_2006dup (p.Asp669GlufsTer6) c.716_717dup n.292_293dup c.1927_1928dup (p.Asp643GlufsTer6) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107702029A>C | CA368843812 | SLC26A4 | c.2006A>C (p.Asp669Ala) c.717A>C n.293A>C c.1928A>C (p.Asp643Ala) | |
7 | g.107702029A>G | CA368843814 | SLC26A4 | c.2006A>G (p.Asp669Gly) c.717A>G n.293A>G c.1928A>G (p.Asp643Gly) | |
7 | g.107702029A>T | CA368843813 | SLC26A4 | c.2006A>T (p.Asp669Val) c.717A>T n.293A>T c.1928A>T (p.Asp643Val) | |
7 | g.107702030C>A | CA368843815 | SLC26A4 | c.2007C>A (p.Asp669Glu) c.718C>A n.294C>A c.1929C>A (p.Asp643Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107702030C= | CA1732759547 | SLC26A4 | c.2007C= (p.Asp669=) c.718C= n.294C= c.1929C= (p.Asp643=) | |
7 | g.107702030C>G | CA368843816 | SLC26A4 | c.2007C>G (p.Asp669Glu) c.718C>G n.294C>G c.1929C>G (p.Asp643Glu) | gnomAD v4 |
7 | g.107702030C>T | CA4432997 | SLC26A4 | c.2007C>T (p.Asp669=) c.718C>T n.294C>T c.1929C>T (p.Asp643=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.107702030_107702036delinsCGTTGTT | CA1732759555 | SLC26A4 | c.2007_2013delinsCGTTGTT (p.Asp669=) c.718_724delinsCGTTGTT n.294_300delinsCGTTGTT c.1929_1935delinsCGTTGTT (p.Asp643=) | |
7 | g.107702031G>A | CA4432998 | SLC26A4 | c.2008G>A (p.Val670Ile) c.719G>A n.295G>A c.1930G>A (p.Val644Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702031G>C | CA368843817 | SLC26A4 | c.2008G>C (p.Val670Leu) c.719G>C n.295G>C c.1930G>C (p.Val644Leu) | |
7 | g.107702031G= | CA1732759567 | SLC26A4 | c.2008G= (p.Val670=) c.719G= n.295G= c.1930G= (p.Val644=) | |
7 | g.107702031G>T | CA4432999 | SLC26A4 | c.2008G>T (p.Val670Phe) c.719G>T n.295G>T c.1930G>T (p.Val644Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107702032_107702037del | CA577030382 | SLC26A4 | c.2009_2014del (p.Val670_Val671del) c.720_725del n.296_301del c.1931_1936del (p.Val644_Val645del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107702032T>A | CA368843818 | SLC26A4 | c.2009T>A (p.Val670Asp) c.720T>A n.296T>A c.1931T>A (p.Val644Asp) | |
7 | g.107702032T>C | CA4433000 | SLC26A4 | c.2009T>C (p.Val670Ala) c.720T>C n.296T>C c.1931T>C (p.Val644Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702032T>G | CA368843819 | SLC26A4 | c.2009T>G (p.Val670Gly) c.720T>G n.296T>G c.1931T>G (p.Val644Gly) | |
7 | g.107702032T= | CA1732759574 | SLC26A4 | c.2009T= (p.Val670=) c.720T= n.296T= c.1931T= (p.Val644=) | |
7 | g.107702033del | CA2739278919 | SLC26A4 | c.2010del (p.Val671LeufsTer3) c.721del n.297del c.1932del (p.Val645LeufsTer3) | ClinVar |
7 | g.107702033T>A | CA457103872 | SLC26A4 | c.2010T>A (p.Val670=) c.721T>A n.297T>A c.1932T>A (p.Val644=) | |
7 | g.107702033T>C | CA457103873 | SLC26A4 | c.2010T>C (p.Val670=) c.721T>C n.297T>C c.1932T>C (p.Val644=) | |
7 | g.107702033T>G | CA457103874 | SLC26A4 | c.2010T>G (p.Val670=) c.721T>G n.297T>G c.1932T>G (p.Val644=) | |
7 | g.107702034G>A | CA368843820 | SLC26A4 | c.2011G>A (p.Val671Ile) c.722G>A n.298G>A c.1933G>A (p.Val645Ile) | |
7 | g.107702034G>C | CA368843821 | SLC26A4 | c.2011G>C (p.Val671Leu) c.722G>C n.298G>C c.1933G>C (p.Val645Leu) | |
7 | g.107702034G>T | CA368843822 | SLC26A4 | c.2011G>T (p.Val671Phe) c.722G>T n.298G>T c.1933G>T (p.Val645Phe) | gnomAD v4 |
7 | g.107702035T>A | CA368843823 | SLC26A4 | c.2012T>A (p.Val671Asp) c.723T>A n.299T>A c.1934T>A (p.Val645Asp) | |
7 | g.107702035T>C | CA368843825 | SLC26A4 | c.2012T>C (p.Val671Ala) c.723T>C n.299T>C c.1934T>C (p.Val645Ala) | gnomAD v4 |
7 | g.107702035T>G | CA368843824 | SLC26A4 | c.2012T>G (p.Val671Gly) c.723T>G n.299T>G c.1934T>G (p.Val645Gly) | |
7 | g.107702036T>A | CA457103875 | SLC26A4 | c.2013T>A (p.Val671=) c.724T>A n.300T>A c.1935T>A (p.Val645=) | |
7 | g.107702036T>C | CA457103876 | SLC26A4 | c.2013T>C (p.Val671=) c.724T>C n.300T>C c.1935T>C (p.Val645=) | |
7 | g.107702036T>G | CA457103877 | SLC26A4 | c.2013T>G (p.Val671=) c.724T>G n.300T>G c.1935T>G (p.Val645=) | gnomAD v4 |
7 | g.107702037G>A | CA368843826 | SLC26A4 | c.2014G>A (p.Gly672Arg) c.725G>A n.301G>A c.1936G>A (p.Gly646Arg) | ClinVar |
7 | g.107702037G>C | CA368843827 | SLC26A4 | c.2014G>C (p.Gly672Arg) c.725G>C n.301G>C c.1936G>C (p.Gly646Arg) | |
7 | g.107702037G>T | CA368843828 | SLC26A4 | c.2014G>T (p.Gly672Ter) c.725G>T n.301G>T c.1936G>T (p.Gly646Ter) | |
7 | g.107702038G>A | CA261423 | SLC26A4 | c.2015G>A (p.Gly672Glu) c.726G>A n.302G>A c.1937G>A (p.Gly646Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702038G>C | CA368843829 | SLC26A4 | c.2015G>C (p.Gly672Ala) c.726G>C n.302G>C c.1937G>C (p.Gly646Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107702038G= | CA1732759582 | SLC26A4 | c.2015G= (p.Gly672=) c.726G= n.302G= c.1937G= (p.Gly646=) | |
7 | g.107702038G>T | CA368843830 | SLC26A4 | c.2015G>T (p.Gly672Val) c.726G>T n.302G>T c.1937G>T (p.Gly646Val) | |
7 | g.107702039A>C | CA457103878 | SLC26A4 | c.2016A>C (p.Gly672=) c.727A>C n.303A>C c.1938A>C (p.Gly646=) | |
7 | g.107702039A>G | CA457103879 | SLC26A4 | c.2016A>G (p.Gly672=) c.727A>G n.303A>G c.1938A>G (p.Gly646=) | |
7 | g.107702039A>T | CA457103880 | SLC26A4 | c.2016A>T (p.Gly672=) c.727A>T n.303A>T c.1938A>T (p.Gly646=) | |
7 | g.107702040G>A | CA4433001 | SLC26A4 | c.2017G>A (p.Val673Met) c.728G>A n.304G>A c.1939G>A (p.Val647Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702040G>C | CA368843831 | SLC26A4 | c.2017G>C (p.Val673Leu) c.728G>C n.304G>C c.1939G>C (p.Val647Leu) | |
7 | g.107702040G= | CA1732759589 | SLC26A4 | c.2017G= (p.Val673=) c.728G= n.304G= c.1939G= (p.Val647=) | |
7 | g.107702040G>T | CA368843832 | SLC26A4 | c.2017G>T (p.Val673Leu) c.728G>T n.304G>T c.1939G>T (p.Val647Leu) | |
7 | g.107702041T>A | CA368843833 | SLC26A4 | c.2018T>A (p.Val673Glu) c.729T>A n.305T>A c.1940T>A (p.Val647Glu) | |
7 | g.107702041T>C | CA368843834 | SLC26A4 | c.2018T>C (p.Val673Ala) c.729T>C n.305T>C c.1940T>C (p.Val647Ala) | |
7 | g.107702041T>G | CA10628013 | SLC26A4 | c.2018T>G (p.Val673Gly) c.729T>G n.305T>G c.1940T>G (p.Val647Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107702041T= | CA1732759596 | SLC26A4 | c.2018T= (p.Val673=) c.729T= n.305T= c.1940T= (p.Val647=) | |
7 | g.107702042G>A | CA457103881 | SLC26A4 | c.2019G>A (p.Val673=) c.730G>A n.306G>A c.1941G>A (p.Val647=) | gnomAD v4 |
7 | g.107702042G>C | CA457103882 | SLC26A4 | c.2019G>C (p.Val673=) c.730G>C n.306G>C c.1941G>C (p.Val647=) | dbSNP |
7 | g.107702042G= | CA1732759602 | SLC26A4 | c.2019G= (p.Val673=) c.730G= n.306G= c.1941G= (p.Val647=) | |
7 | g.107702042G>T | CA457103884 | SLC26A4 | c.2019G>T (p.Val673=) c.730G>T n.306G>T c.1941G>T (p.Val647=) | |
7 | g.107702043A= | CA1732759605 | SLC26A4 | c.2020A= (p.Arg674=) c.731A= n.307A= c.1942A= (p.Arg648=) | |
7 | g.107702043A>C | CA457103886 | SLC26A4 | c.2020A>C (p.Arg674=) c.731A>C n.307A>C c.1942A>C (p.Arg648=) | |
7 | g.107702043A>G | CA4433002 | SLC26A4 | c.2020A>G (p.Arg674Gly) c.731A>G n.307A>G c.1942A>G (p.Arg648Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107702043A>T | CA368843835 | SLC26A4 | c.2020A>T (p.Arg674Ter) c.731A>T n.307A>T c.1942A>T (p.Arg648Ter) | |
7 | g.107702044G>A | CA368843836 | SLC26A4 | c.2021G>A (p.Arg674Lys) c.732G>A n.308G>A c.1943G>A (p.Arg648Lys) | gnomAD v4 |
7 | g.107702044G>C | CA368843837 | SLC26A4 | c.2021G>C (p.Arg674Thr) c.732G>C n.308G>C c.1943G>C (p.Arg648Thr) | |
7 | g.107702044G>T | CA368843838 | SLC26A4 | c.2021G>T (p.Arg674Ile) c.732G>T n.308G>T c.1943G>T (p.Arg648Ile) | gnomAD v4 |
7 | g.107702045A= | CA1732759609 | SLC26A4 | c.2022A= (p.Arg674=) c.733A= n.309A= c.1944A= (p.Arg648=) | |
7 | g.107702045A>C | CA368843839 | SLC26A4 | c.2022A>C (p.Arg674Ser) c.733A>C n.309A>C c.1944A>C (p.Arg648Ser) | gnomAD v4 |
7 | g.107702045A>G | CA4433003 | SLC26A4 | c.2022A>G (p.Arg674=) c.733A>G n.309A>G c.1944A>G (p.Arg648=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702045A>T | CA368843840 | SLC26A4 | c.2022A>T (p.Arg674Ser) c.733A>T n.309A>T c.1944A>T (p.Arg648Ser) | |
7 | g.107702046T>A | CA368843841 | SLC26A4 | c.2023T>A (p.Ser675Thr) c.734T>A n.310T>A c.1945T>A (p.Ser649Thr) | |
7 | g.107702046T>C | CA368843842 | SLC26A4 | c.2023T>C (p.Ser675Pro) c.734T>C n.310T>C c.1945T>C (p.Ser649Pro) | dbSNP |
7 | g.107702046T>G | CA368843843 | SLC26A4 | c.2023T>G (p.Ser675Ala) c.734T>G n.310T>G c.1945T>G (p.Ser649Ala) | |
7 | g.107702046T= | CA1732759615 | SLC26A4 | c.2023T= (p.Ser675=) c.734T= n.310T= c.1945T= (p.Ser649=) | |
7 | g.107702047C>A | CA368843845 | SLC26A4 | c.2024C>A (p.Ser675Ter) c.735C>A n.311C>A c.1946C>A (p.Ser649Ter) | |
7 | g.107702047C>G | CA368843846 | SLC26A4 | c.2024C>G (p.Ser675Ter) c.735C>G n.311C>G c.1946C>G (p.Ser649Ter) | |
7 | g.107702047C>T | CA368843844 | SLC26A4 | c.2024C>T (p.Ser675Leu) c.735C>T n.311C>T c.1946C>T (p.Ser649Leu) | |
7 | g.107702048A= | CA1732759618 | SLC26A4 | c.2025A= (p.Ser675=) c.736A= n.312A= c.1947A= (p.Ser649=) | |
7 | g.107702048A>C | CA457103893 | SLC26A4 | c.2025A>C (p.Ser675=) c.736A>C n.312A>C c.1947A>C (p.Ser649=) | ClinVar dbSNP |
7 | g.107702048A>G | CA457103894 | SLC26A4 | c.2025A>G (p.Ser675=) c.736A>G n.312A>G c.1947A>G (p.Ser649=) | |
7 | g.107702048A>T | CA457103895 | SLC26A4 | c.2025A>T (p.Ser675=) c.736A>T n.312A>T c.1947A>T (p.Ser649=) | |
7 | g.107702049del | CA2499218639 | SLC26A4 | c.2026del (p.Leu676CysfsTer3) c.737del n.313del c.1948del (p.Leu650CysfsTer3) | ClinVar dbSNP |
7 | g.107702049C>A | CA368843847 | SLC26A4 | c.2026C>A (p.Leu676Met) c.737C>A n.313C>A c.1948C>A (p.Leu650Met) | gnomAD v4 |
7 | g.107702049C>G | CA368843848 | SLC26A4 | c.2026C>G (p.Leu676Val) c.737C>G n.313C>G c.1948C>G (p.Leu650Val) | |
7 | g.107702049C>T | CA457103897 | SLC26A4 | c.2026C>T (p.Leu676=) c.737C>T n.313C>T c.1948C>T (p.Leu650=) | |
7 | g.107702050T>A | CA261424 | SLC26A4 | c.2027T>A (p.Leu676Gln) c.738T>A n.314T>A c.1949T>A (p.Leu650Gln) | ClinVar dbSNP gnomAD v4 |
7 | g.107702050T>C | CA368843849 | SLC26A4 | c.2027T>C (p.Leu676Pro) c.738T>C n.314T>C c.1949T>C (p.Leu650Pro) | ClinVar dbSNP |
7 | g.107702050T>G | CA368843850 | SLC26A4 | c.2027T>G (p.Leu676Arg) c.738T>G n.314T>G c.1949T>G (p.Leu650Arg) | |
7 | g.107702050T= | CA1732759621 | SLC26A4 | c.2027T= (p.Leu676=) c.738T= n.314T= c.1949T= (p.Leu650=) | |
7 | g.107702050dup | CA2695208267 | SLC26A4 | c.2027dup (p.Arg677AlafsTer11) c.738dup n.314dup c.1949dup (p.Arg651AlafsTer11) | |
7 | g.107702051del | CA2573052790 | SLC26A4 | c.2028del (p.Arg677GlyfsTer2) c.739del n.315del c.1950del (p.Arg651GlyfsTer2) | ClinVar dbSNP |
7 | g.107702051G>A | CA457103899 | SLC26A4 | c.2028G>A (p.Leu676=) c.739G>A n.315G>A c.1950G>A (p.Leu650=) | gnomAD v4 |
7 | g.107702051G>C | CA457103900 | SLC26A4 | c.2028G>C (p.Leu676=) c.739G>C n.315G>C c.1950G>C (p.Leu650=) | gnomAD v4 |
7 | g.107702051G>T | CA457103902 | SLC26A4 | c.2028G>T (p.Leu676=) c.739G>T n.315G>T c.1950G>T (p.Leu650=) | |
7 | g.107702052C>A | CA132693 | SLC26A4 | c.2029C>A (p.Arg677=) c.740C>A n.316C>A c.1951C>A (p.Arg651=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107702052C= | CA1732759643 | SLC26A4 | c.2029C= (p.Arg677=) c.740C= n.316C= c.1951C= (p.Arg651=) | |
7 | g.107702052C>G | CA368843851 | SLC26A4 | c.2029C>G (p.Arg677Gly) c.740C>G n.316C>G c.1951C>G (p.Arg651Gly) | |
7 | g.107702052C>T | CA184942 | SLC26A4 | c.2029C>T (p.Arg677Trp) c.740C>T n.316C>T c.1951C>T (p.Arg651Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.107702053G>A | CA4433004 | SLC26A4 | c.2030G>A (p.Arg677Gln) c.741G>A n.317G>A c.1952G>A (p.Arg651Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.107702053G>C | CA368843852 | SLC26A4 | c.2030G>C (p.Arg677Pro) c.741G>C n.317G>C c.1952G>C (p.Arg651Pro) | |
7 | g.107702053G= | CA1732759649 | SLC26A4 | c.2030G= (p.Arg677=) c.741G= n.317G= c.1952G= (p.Arg651=) | |
7 | g.107702053G>T | CA368843853 | SLC26A4 | c.2030G>T (p.Arg677Leu) c.741G>T n.317G>T c.1952G>T (p.Arg651Leu) | gnomAD v4 |
7 | g.107702053_107702059del | CA2684467906 | SLC26A4 | c.2030_2034+2del c.741_745+2del n.317_321+2del c.1952_1956+2del | gnomAD v4 |
7 | g.107702054G>A | CA457103906 | SLC26A4 | c.2031G>A (p.Arg677=) c.742G>A n.318G>A c.1953G>A (p.Arg651=) | ClinVar dbSNP |
7 | g.107702054G>C | CA457103907 | SLC26A4 | c.2031G>C (p.Arg677=) c.742G>C n.318G>C c.1953G>C (p.Arg651=) | gnomAD v4 |
7 | g.107702054G= | CA1732759653 | SLC26A4 | c.2031G= (p.Arg677=) c.742G= n.318G= c.1953G= (p.Arg651=) | |
7 | g.107702054G>T | CA457103909 | SLC26A4 | c.2031G>T (p.Arg677=) c.742G>T n.318G>T c.1953G>T (p.Arg651=) | dbSNP |
7 | g.107702055G>A | CA4433005 | SLC26A4 | c.2032G>A (p.Val678Met) c.743G>A n.319G>A c.1954G>A (p.Val652Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107702055G>C | CA368843854 | SLC26A4 | c.2032G>C (p.Val678Leu) c.743G>C n.319G>C c.1954G>C (p.Val652Leu) | |
7 | g.107702055G= | CA1732759656 | SLC26A4 | c.2032G= (p.Val678=) c.743G= n.319G= c.1954G= (p.Val652=) | |
7 | g.107702055G>T | CA368843855 | SLC26A4 | c.2032G>T (p.Val678Leu) c.743G>T n.319G>T c.1954G>T (p.Val652Leu) | |
7 | g.107702056T>A | CA368843857 | SLC26A4 | c.2033T>A (p.Val678Glu) c.744T>A n.320T>A c.1955T>A (p.Val652Glu) | |
7 | g.107702056T>C | CA368843858 | SLC26A4 | c.2033T>C (p.Val678Ala) c.744T>C n.320T>C c.1955T>C (p.Val652Ala) | |
7 | g.107702056T>G | CA368843856 | SLC26A4 | c.2033T>G (p.Val678Gly) c.744T>G n.320T>G c.1955T>G (p.Val652Gly) | |
7 | g.107702057G>A | CA164218697 | SLC26A4 | c.2034G>A (p.Val678=) c.745G>A n.321G>A c.1956G>A (p.Val652=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702057G>C | CA457103913 | SLC26A4 | c.2034G>C (p.Val678=) c.745G>C n.321G>C c.1956G>C (p.Val652=) | dbSNP |
7 | g.107702057G= | CA1732759666 | SLC26A4 | c.2034G= (p.Val678=) c.745G= n.321G= c.1956G= (p.Val652=) | |
7 | g.107702057G>T | CA457103914 | SLC26A4 | c.2034G>T (p.Val678=) c.745G>T n.321G>T c.1956G>T (p.Val652=) | |
7 | g.107702058G>A | CA4433006 | SLC26A4 | c.2034+1G>A (n.2034+1G>A) c.745+1G>A n.321+1G>A c.1956+1G>A (n.1956+1G>A) | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
7 | g.107702058G>C | CA368843859 | SLC26A4 | c.2034+1G>C (n.2034+1G>C) c.745+1G>C n.321+1G>C c.1956+1G>C (n.1956+1G>C) | |
7 | g.107702058G= | CA1732759675 | SLC26A4 | c.2034+1G= (n.2034+1G=) c.745+1G= n.321+1G= c.1956+1G= (n.1956+1G=) | |
7 | g.107702058G>T | CA368843860 | SLC26A4 | c.2034+1G>T (n.2034+1G>T) c.745+1G>T n.321+1G>T c.1956+1G>T (n.1956+1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702059T>A | CA368843861 | SLC26A4 | c.2034+2T>A (n.2034+2T>A) c.745+2T>A n.321+2T>A c.1956+2T>A (n.1956+2T>A) | gnomAD v4 |
7 | g.107702059T>C | CA368843862 | SLC26A4 | c.2034+2T>C (n.2034+2T>C) c.745+2T>C n.321+2T>C c.1956+2T>C (n.1956+2T>C) | |
7 | g.107702059T>G | CA368843863 | SLC26A4 | c.2034+2T>G (n.2034+2T>G) c.745+2T>G n.321+2T>G c.1956+2T>G (n.1956+2T>G) | |
7 | g.107702059_107702060delinsTA | CA1732759681 | SLC26A4 | c.2034+2_2034+3delinsTA (n.2034+2_2034+3delinsTA) c.745+2_745+3delinsTA n.321+2_321+3delinsTA c.1956+2_1956+3delinsTA (n.1956+2_1956+3delinsTA) | |
7 | g.107702061del | CA577030383 | SLC26A4 | c.2034+4del (n.2034+4del) c.745+4del n.321+4del c.1956+4del (n.1956+4del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702061A= | CA1732759684 | SLC26A4 | c.2034+4A= (n.2034+4A=) c.745+4A= n.321+4A= c.1956+4A= (n.1956+4A=) | |
7 | g.107702061A>G | CA4433007 | SLC26A4 | c.2034+4A>G (n.2034+4A>G) c.745+4A>G n.321+4A>G c.1956+4A>G (n.1956+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107702063G>A | CA2684467921 | SLC26A4 | c.2034+6G>A (n.2034+6G>A) c.745+6G>A n.321+6G>A c.1956+6G>A (n.1956+6G>A) | gnomAD v4 |
7 | g.107702063G= | CA1732759687 | SLC26A4 | c.2034+6G= (n.2034+6G=) c.745+6G= n.321+6G= c.1956+6G= (n.1956+6G=) | |
7 | g.107702063G>T | CA1732759688 | SLC26A4 | c.2034+6G>T (n.2034+6G>T) c.745+6G>T n.321+6G>T c.1956+6G>T (n.1956+6G>T) | dbSNP gnomAD v4 |
7 | g.107702066C>A | CA2684467923 | SLC26A4 | c.2034+9C>A (n.2034+9C>A) c.745+9C>A n.321+9C>A c.1956+9C>A (n.1956+9C>A) | gnomAD v4 |
7 | g.107702067T>A | CA2684467924 | SLC26A4 | c.2034+10T>A (n.2034+10T>A) c.745+10T>A n.321+10T>A c.1956+10T>A (n.1956+10T>A) | gnomAD v4 |
7 | g.107702067T>C | CA2573141454 | SLC26A4 | c.2034+10T>C (n.2034+10T>C) c.745+10T>C n.321+10T>C c.1956+10T>C (n.1956+10T>C) | ClinVar dbSNP |
7 | g.107702068G>A | CA577030384 | SLC26A4 | c.2034+11G>A (n.2034+11G>A) c.745+11G>A n.321+11G>A c.1956+11G>A (n.1956+11G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107702068G= | CA1732759690 | SLC26A4 | c.2034+11G= (n.2034+11G=) c.745+11G= n.321+11G= c.1956+11G= (n.1956+11G=) | |
7 | g.107702068G>T | CA1732759692 | SLC26A4 | c.2034+11G>T (n.2034+11G>T) c.745+11G>T n.321+11G>T c.1956+11G>T (n.1956+11G>T) | ClinVar dbSNP gnomAD v4 |
7 | g.107702069G>A | CA2684467927 | SLC26A4 | c.2034+12G>A (n.2034+12G>A) c.745+12G>A n.321+12G>A c.1956+12G>A (n.1956+12G>A) | gnomAD v4 |
7 | g.107702070T>C | CA2684467928 | SLC26A4 | c.2034+13T>C (n.2034+13T>C) c.745+13T>C n.321+13T>C c.1956+13T>C (n.1956+13T>C) | gnomAD v4 |
7 | g.107702071T>A | CA2684467931 | SLC26A4 | c.2034+14T>A (n.2034+14T>A) c.745+14T>A n.321+14T>A c.1956+14T>A (n.1956+14T>A) | gnomAD v4 |
7 | g.107702071T>C | CA2739278920 | SLC26A4 | c.2034+14T>C (n.2034+14T>C) c.745+14T>C n.321+14T>C c.1956+14T>C (n.1956+14T>C) | ClinVar |
7 | g.107702073T>C | CA1105621107 | SLC26A4 | c.2034+16T>C (n.2034+16T>C) c.745+16T>C n.321+16T>C c.1956+16T>C (n.1956+16T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107702073T= | CA1732759694 | SLC26A4 | c.2034+16T= (n.2034+16T=) c.745+16T= n.321+16T= c.1956+16T= (n.1956+16T=) | |
7 | g.107702074C>A | CA2684467932 | SLC26A4 | c.2034+17C>A (n.2034+17C>A) c.745+17C>A n.321+17C>A c.1956+17C>A (n.1956+17C>A) | gnomAD v4 |
7 | g.107702075T>A | CA1732759696 | SLC26A4 | c.2034+18T>A (n.2034+18T>A) c.745+18T>A n.321+18T>A c.1956+18T>A (n.1956+18T>A) | dbSNP |
7 | g.107702075T>C | CA2684467934 | SLC26A4 | c.2034+18T>C (n.2034+18T>C) c.745+18T>C n.321+18T>C c.1956+18T>C (n.1956+18T>C) | ClinVar gnomAD v4 |
7 | g.107702075T= | CA1732759695 | SLC26A4 | c.2034+18T= (n.2034+18T=) c.745+18T= n.321+18T= c.1956+18T= (n.1956+18T=) | |
7 | g.107702076G>A | CA2777355859 | SLC26A4 | c.2034+19G>A (n.2034+19G>A) c.745+19G>A n.321+19G>A c.1956+19G>A (n.1956+19G>A) | |
7 | g.107702078A= | CA1732759698 | SLC26A4 | c.2034+21A= (n.2034+21A=) c.745+21A= n.321+21A= c.1956+21A= (n.1956+21A=) | |
7 | g.107702078A>G | CA4433008 | SLC26A4 | c.2034+21A>G (n.2034+21A>G) c.745+21A>G n.321+21A>G c.1956+21A>G (n.1956+21A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107702080T>A | CA2684467938 | SLC26A4 | c.2034+23T>A (n.2034+23T>A) c.745+23T>A n.321+23T>A c.1956+23T>A (n.1956+23T>A) | gnomAD v4 |
7 | g.107702082T>C | CA577030385 | SLC26A4 | c.2034+25T>C (n.2034+25T>C) c.745+25T>C n.321+25T>C c.1956+25T>C (n.1956+25T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107702082T>G | CA2684467940 | SLC26A4 | c.2034+25T>G (n.2034+25T>G) c.745+25T>G n.321+25T>G c.1956+25T>G (n.1956+25T>G) | gnomAD v4 |
7 | g.107702082T= | CA1732759700 | SLC26A4 | c.2034+25T= (n.2034+25T=) c.745+25T= n.321+25T= c.1956+25T= (n.1956+25T=) | |
7 | g.107702083A= | CA1732759704 | SLC26A4 | c.2034+26A= (n.2034+26A=) c.745+26A= n.321+26A= c.1956+26A= (n.1956+26A=) | |
7 | g.107702083A>G | CA4433009 | SLC26A4 | c.2034+26A>G (n.2034+26A>G) c.745+26A>G n.321+26A>G c.1956+26A>G (n.1956+26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702084C>A | CA2578988978 | SLC26A4 | c.2034+27C>A (n.2034+27C>A) c.745+27C>A n.321+27C>A c.1956+27C>A (n.1956+27C>A) | gnomAD v4 |
7 | g.107702085A= | CA1732759707 | SLC26A4 | c.2034+28A= (n.2034+28A=) c.745+28A= n.321+28A= c.1956+28A= (n.1956+28A=) | |
7 | g.107702085A>C | CA577030386 | SLC26A4 | c.2034+28A>C (n.2034+28A>C) c.745+28A>C n.321+28A>C c.1956+28A>C (n.1956+28A>C) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.107702087T>C | CA2684467946 | SLC26A4 | c.2034+30T>C (n.2034+30T>C) c.745+30T>C n.321+30T>C c.1956+30T>C (n.1956+30T>C) | gnomAD v4 |
7 | g.107702090G>A | CA1732759711 | SLC26A4 | c.2034+33G>A (n.2034+33G>A) c.745+33G>A n.321+33G>A c.1956+33G>A (n.1956+33G>A) | dbSNP |
7 | g.107702090G>C | CA1732759710 | SLC26A4 | c.2034+33G>C (n.2034+33G>C) c.745+33G>C n.321+33G>C c.1956+33G>C (n.1956+33G>C) | dbSNP |
7 | g.107702090G= | CA1732759709 | SLC26A4 | c.2034+33G= (n.2034+33G=) c.745+33G= n.321+33G= c.1956+33G= (n.1956+33G=) | |
7 | g.107702091A>G | CA2684467947 | SLC26A4 | c.2034+34A>G (n.2034+34A>G) c.745+34A>G n.321+34A>G c.1956+34A>G (n.1956+34A>G) | gnomAD v4 |
7 | g.107702093C>A | CA2578988979 | SLC26A4 | c.2034+36C>A (n.2034+36C>A) c.745+36C>A n.321+36C>A c.1956+36C>A (n.1956+36C>A) | gnomAD v4 |
7 | g.107702095T>C | CA577030387 | SLC26A4 | c.2034+38T>C (n.2034+38T>C) c.745+38T>C n.321+38T>C c.1956+38T>C (n.1956+38T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107702095T>G | CA2684467951 | SLC26A4 | c.2034+38T>G (n.2034+38T>G) c.745+38T>G n.321+38T>G c.1956+38T>G (n.1956+38T>G) | gnomAD v4 |
7 | g.107702095T= | CA1732759712 | SLC26A4 | c.2034+38T= (n.2034+38T=) c.745+38T= n.321+38T= c.1956+38T= (n.1956+38T=) | |
7 | g.107702097G>A | CA2715575573 | SLC26A4 | c.2034+40G>A (n.2034+40G>A) c.745+40G>A n.321+40G>A c.1956+40G>A (n.1956+40G>A) | dbSNP |
7 | g.107702098G>A | CA2578988980 | SLC26A4 | c.2034+41G>A (n.2034+41G>A) c.745+41G>A n.321+41G>A c.1956+41G>A (n.1956+41G>A) | |
7 | g.107702098_107702099insGAACGTT | CA2512345739 | SLC26A4 | c.2034+41_2034+42insGAACGTT (n.2034+41_2034+42insGAACGTT) c.745+41_745+42insGAACGTT n.321+41_321+42insGAACGTT c.1956+41_1956+42insGAACGTT (n.1956+41_1956+42insGAACGTT) | |
7 | g.107702099C>A | CA1105621114 | SLC26A4 | c.2034+42C>A (n.2034+42C>A) c.745+42C>A n.321+42C>A c.1956+42C>A (n.1956+42C>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107702099C= | CA1732759714 | SLC26A4 | c.2034+42C= (n.2034+42C=) c.745+42C= n.321+42C= c.1956+42C= (n.1956+42C=) | |
7 | g.107702099C>T | CA2684467955 | SLC26A4 | c.2034+42C>T (n.2034+42C>T) c.745+42C>T n.321+42C>T c.1956+42C>T (n.1956+42C>T) | gnomAD v4 |
7 | g.107702100A>G | CA2684467961 | SLC26A4 | c.2034+43A>G (n.2034+43A>G) c.745+43A>G n.321+43A>G c.1956+43A>G (n.1956+43A>G) | gnomAD v4 |
7 | g.107702105T>A | CA2578988981 | SLC26A4 | c.2034+48T>A (n.2034+48T>A) c.745+48T>A n.321+48T>A c.1956+48T>A (n.1956+48T>A) | gnomAD v4 |
7 | g.107702105T>C | CA2684467964 | SLC26A4 | c.2034+48T>C (n.2034+48T>C) c.745+48T>C n.321+48T>C c.1956+48T>C (n.1956+48T>C) | gnomAD v4 |
7 | g.107702106A= | CA1732759717 | SLC26A4 | c.2034+49A= (n.2034+49A=) c.745+49A= n.321+49A= c.1956+49A= (n.1956+49A=) | |
7 | g.107702106A>T | CA1105621116 | SLC26A4 | c.2034+49A>T (n.2034+49A>T) c.745+49A>T n.321+49A>T c.1956+49A>T (n.1956+49A>T) | dbSNP gnomAD v3 gnomAD v4 |