Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107701994_107702000delinsCCTTGTG | CA1732759430 | SLC26A4 | c.1971_1977delinsCCTTGTG (p.Ser657=) c.682_688delinsCCTTGTG n.258_264delinsCCTTGTG c.1893_1899delinsCCTTGTG (p.Ser631=) | |
7 | g.107701999_107702004del | CA1105621052 | SLC26A4 | c.1976_1981del (p.Val659_Leu660del) c.687_692del n.263_268del c.1898_1903del (p.Val633_Leu634del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107701998G>A | CA368843750 | SLC26A4 | c.1975G>A (p.Val659Met) c.686G>A n.262G>A c.1897G>A (p.Val633Met) | |
7 | g.107701998G>C | CA274086 | SLC26A4 | c.1975G>C (p.Val659Leu) c.686G>C n.262G>C c.1897G>C (p.Val633Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107701998G= | CA1732759446 | SLC26A4 | c.1975G= (p.Val659=) c.686G= n.262G= c.1897G= (p.Val633=) | |
7 | g.107701998G>T | CA368843751 | SLC26A4 | c.1975G>T (p.Val659Leu) c.686G>T n.262G>T c.1897G>T (p.Val633Leu) | |
7 | g.107701999T>A | CA368843755 | SLC26A4 | c.1976T>A (p.Val659Glu) c.687T>A n.263T>A c.1898T>A (p.Val633Glu) | |
7 | g.107701999T>C | CA368843754 | SLC26A4 | c.1976T>C (p.Val659Ala) c.687T>C n.263T>C c.1898T>C (p.Val633Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107701999T>G | CA368843753 | SLC26A4 | c.1976T>G (p.Val659Gly) c.687T>G n.263T>G c.1898T>G (p.Val633Gly) | |
7 | g.107701999T= | CA1732759452 | SLC26A4 | c.1976T= (p.Val659=) c.687T= n.263T= c.1898T= (p.Val633=) | |
7 | g.107702000G>A | CA457103516 | SLC26A4 | c.1977G>A (p.Val659=) c.688G>A n.264G>A c.1899G>A (p.Val633=) | |
7 | g.107702000G>C | CA457103518 | SLC26A4 | c.1977G>C (p.Val659=) c.688G>C n.264G>C c.1899G>C (p.Val633=) | |
7 | g.107702000G>T | CA457103520 | SLC26A4 | c.1977G>T (p.Val659=) c.688G>T n.264G>T c.1899G>T (p.Val633=) | gnomAD v4 |
7 | g.107702001C>A | CA368843756 | SLC26A4 | c.1978C>A (p.Leu660Ile) c.689C>A n.265C>A c.1900C>A (p.Leu634Ile) | |
7 | g.107702001C>G | CA368843758 | SLC26A4 | c.1978C>G (p.Leu660Val) c.689C>G n.265C>G c.1900C>G (p.Leu634Val) | |
7 | g.107702001C>T | CA368843757 | SLC26A4 | c.1978C>T (p.Leu660Phe) c.689C>T n.265C>T c.1900C>T (p.Leu634Phe) | gnomAD v4 |
7 | g.107702002T>A | CA368843759 | SLC26A4 | c.1979T>A (p.Leu660His) c.690T>A n.266T>A c.1901T>A (p.Leu634His) | |
7 | g.107702002T>C | CA368843760 | SLC26A4 | c.1979T>C (p.Leu660Pro) c.690T>C n.266T>C c.1901T>C (p.Leu634Pro) | ClinVar dbSNP |
7 | g.107702002T>G | CA368843761 | SLC26A4 | c.1979T>G (p.Leu660Arg) c.690T>G n.266T>G c.1901T>G (p.Leu634Arg) | |
7 | g.107702003T>A | CA457103853 | SLC26A4 | c.1980T>A (p.Leu660=) c.691T>A n.267T>A c.1902T>A (p.Leu634=) | |
7 | g.107702003T>C | CA457103854 | SLC26A4 | c.1980T>C (p.Leu660=) c.691T>C n.267T>C c.1902T>C (p.Leu634=) | ClinVar dbSNP gnomAD v4 |
7 | g.107702003T>G | CA457103855 | SLC26A4 | c.1980T>G (p.Leu660=) c.691T>G n.267T>G c.1902T>G (p.Leu634=) | |
7 | g.107702004G>A | CA368843762 | SLC26A4 | c.1981G>A (p.Asp661Asn) c.692G>A n.268G>A c.1903G>A (p.Asp635Asn) | |
7 | g.107702004G>C | CA368843763 | SLC26A4 | c.1981G>C (p.Asp661His) c.692G>C n.268G>C c.1903G>C (p.Asp635His) | |
7 | g.107702004G>T | CA368843764 | SLC26A4 | c.1981G>T (p.Asp661Tyr) c.692G>T n.268G>T c.1903G>T (p.Asp635Tyr) | |
7 | g.107702005A= | CA1732759456 | SLC26A4 | c.1982A= (p.Asp661=) c.693A= n.269A= c.1904A= (p.Asp635=) | |
7 | g.107702005A>C | CA368843765 | SLC26A4 | c.1982A>C (p.Asp661Ala) c.693A>C n.269A>C c.1904A>C (p.Asp635Ala) | |
7 | g.107702005A>G | CA368843766 | SLC26A4 | c.1982A>G (p.Asp661Gly) c.693A>G n.269A>G c.1904A>G (p.Asp635Gly) | |
7 | g.107702005A>T | CA368843767 | SLC26A4 | c.1982A>T (p.Asp661Val) c.693A>T n.269A>T c.1904A>T (p.Asp635Val) | dbSNP |
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) |