Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44254578_44254585del | CA2697559955 | SLC4A1 | c.1972_1979del (p.Glu658HisfsTer?) c.874_881del (p.Glu292HisfsTer?) c.1777_1784del (p.Glu593HisfsTer?) c.1882_1889del (p.Glu628HisfsTer?) | ClinVar |
17 | g.44254576A>C | CA399782885 | SLC4A1 | c.1977T>G (p.Phe659Leu) c.879T>G (p.Phe293Leu) c.1782T>G (p.Phe594Leu) c.1887T>G (p.Phe629Leu) | |
17 | g.44254576A>G | CA500285564 | SLC4A1 | c.1977T>C (p.Phe659=) c.879T>C (p.Phe293=) c.1782T>C (p.Phe594=) c.1887T>C (p.Phe629=) | gnomAD v4 |
17 | g.44254576A>T | CA399782887 | SLC4A1 | c.1977T>A (p.Phe659Leu) c.879T>A (p.Phe293Leu) c.1782T>A (p.Phe594Leu) c.1887T>A (p.Phe629Leu) | |
17 | g.44254577A>C | CA399782891 | SLC4A1 | c.1976T>G (p.Phe659Cys) c.878T>G (p.Phe293Cys) c.1781T>G (p.Phe594Cys) c.1886T>G (p.Phe629Cys) | |
17 | g.44254577A>G | CA399782897 | SLC4A1 | c.1976T>C (p.Phe659Ser) c.878T>C (p.Phe293Ser) c.1781T>C (p.Phe594Ser) c.1886T>C (p.Phe629Ser) | |
17 | g.44254577A>T | CA399782894 | SLC4A1 | c.1976T>A (p.Phe659Tyr) c.878T>A (p.Phe293Tyr) c.1781T>A (p.Phe594Tyr) c.1886T>A (p.Phe629Tyr) | |
17 | g.44254580_44254586del | CA2739267570 | SLC4A1 | c.1970_1976del (p.Ser657PhefsTer5) c.872_878del (p.Ser291PhefsTer5) c.1775_1781del (p.Ser592PhefsTer5) c.1880_1886del (p.Ser627PhefsTer5) | ClinVar |
17 | g.44254578A>C | CA399782902 | SLC4A1 | c.1975T>G (p.Phe659Val) c.877T>G (p.Phe293Val) c.1780T>G (p.Phe594Val) c.1885T>G (p.Phe629Val) | |
17 | g.44254578A>G | CA399782907 | SLC4A1 | c.1975T>C (p.Phe659Leu) c.877T>C (p.Phe293Leu) c.1780T>C (p.Phe594Leu) c.1885T>C (p.Phe629Leu) | |
17 | g.44254578A>T | CA399782910 | SLC4A1 | c.1975T>A (p.Phe659Ile) c.877T>A (p.Phe293Ile) c.1780T>A (p.Phe594Ile) c.1885T>A (p.Phe629Ile) | |
17 | g.44254579C>A | CA399782914 | SLC4A1 | c.1974G>T (p.Glu658Asp) c.876G>T (p.Glu292Asp) c.1779G>T (p.Glu593Asp) c.1884G>T (p.Glu628Asp) | |
17 | g.44254579C= | CA2261308275 | SLC4A1 | c.1974G= (p.Glu658=) c.876G= (p.Glu292=) c.1779G= (p.Glu593=) c.1884G= (p.Glu628=) | |
17 | g.44254579C>G | CA399782916 | SLC4A1 | c.1974G>C (p.Glu658Asp) c.876G>C (p.Glu292Asp) c.1779G>C (p.Glu593Asp) c.1884G>C (p.Glu628Asp) | |
17 | g.44254579C>T | CA8600154 | SLC4A1 | c.1974G>A (p.Glu658=) c.876G>A (p.Glu292=) c.1779G>A (p.Glu593=) c.1884G>A (p.Glu628=) | dbSNP ExAC gnomAD v4 |
17 | g.44254580T>A | CA399782929 | SLC4A1 | c.1973A>T (p.Glu658Val) c.875A>T (p.Glu292Val) c.1778A>T (p.Glu593Val) c.1883A>T (p.Glu628Val) | |
17 | g.44254580T>C | CA399782933 | SLC4A1 | c.1973A>G (p.Glu658Gly) c.875A>G (p.Glu292Gly) c.1778A>G (p.Glu593Gly) c.1883A>G (p.Glu628Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254580T>G | CA399782935 | SLC4A1 | c.1973A>C (p.Glu658Ala) c.875A>C (p.Glu292Ala) c.1778A>C (p.Glu593Ala) c.1883A>C (p.Glu628Ala) | |
17 | g.44254580T= | CA2261308276 | SLC4A1 | c.1973A= (p.Glu658=) c.875A= (p.Glu292=) c.1778A= (p.Glu593=) c.1883A= (p.Glu628=) | |
17 | g.44254581C>A | CA399782942 | SLC4A1 | c.1972G>T (p.Glu658Ter) c.874G>T (p.Glu292Ter) c.1777G>T (p.Glu593Ter) c.1882G>T (p.Glu628Ter) | |
17 | g.44254581C= | CA2261308277 | SLC4A1 | c.1972G= (p.Glu658=) c.874G= (p.Glu292=) c.1777G= (p.Glu593=) c.1882G= (p.Glu628=) | |
17 | g.44254581C>G | CA8600155 | SLC4A1 | c.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 |
17 | g.44254581C>T | CA127380 | SLC4A1 | c.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 |
17 | g.44254582G>A | CA8600156 | SLC4A1 | c.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 |
17 | g.44254582G>C | CA500285582 | SLC4A1 | c.1971C>G (p.Ser657=) c.873C>G (p.Ser291=) c.1776C>G (p.Ser592=) c.1881C>G (p.Ser627=) | dbSNP gnomAD v2 |
17 | g.44254582G= | CA2261308278 | SLC4A1 | c.1971C= (p.Ser657=) c.873C= (p.Ser291=) c.1776C= (p.Ser592=) c.1881C= (p.Ser627=) | |
17 | g.44254582G>T | CA500285583 | SLC4A1 | c.1971C>A (p.Ser657=) c.873C>A (p.Ser291=) c.1776C>A (p.Ser592=) c.1881C>A (p.Ser627=) | |
17 | g.44254583G>A | CA399782964 | SLC4A1 | c.1970C>T (p.Ser657Phe) c.872C>T (p.Ser291Phe) c.1775C>T (p.Ser592Phe) c.1880C>T (p.Ser627Phe) | |
17 | g.44254583G>C | CA399782968 | SLC4A1 | c.1970C>G (p.Ser657Cys) c.872C>G (p.Ser291Cys) c.1775C>G (p.Ser592Cys) c.1880C>G (p.Ser627Cys) | |
17 | g.44254583G>T | CA399782972 | SLC4A1 | c.1970C>A (p.Ser657Tyr) c.872C>A (p.Ser291Tyr) c.1775C>A (p.Ser592Tyr) c.1880C>A (p.Ser627Tyr) | |
17 | g.44254584A= | CA2261308279 | SLC4A1 | c.1969T= (p.Ser657=) c.871T= (p.Ser291=) c.1774T= (p.Ser592=) c.1879T= (p.Ser627=) | |
17 | g.44254584A>C | CA399782973 | SLC4A1 | c.1969T>G (p.Ser657Ala) c.871T>G (p.Ser291Ala) c.1774T>G (p.Ser592Ala) c.1879T>G (p.Ser627Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254584A>G | CA399782974 | SLC4A1 | c.1969T>C (p.Ser657Pro) c.871T>C (p.Ser291Pro) c.1774T>C (p.Ser592Pro) c.1879T>C (p.Ser627Pro) | |
17 | g.44254584A>T | CA399782977 | SLC4A1 | c.1969T>A (p.Ser657Thr) c.871T>A (p.Ser291Thr) c.1774T>A (p.Ser592Thr) c.1879T>A (p.Ser627Thr) | ClinVar |
17 | g.44254585A>C | CA500285592 | SLC4A1 | c.1968T>G (p.Arg656=) c.870T>G (p.Arg290=) c.1773T>G (p.Arg591=) c.1878T>G (p.Arg626=) | |
17 | g.44254585A>G | CA500285596 | SLC4A1 | c.1968T>C (p.Arg656=) c.870T>C (p.Arg290=) c.1773T>C (p.Arg591=) c.1878T>C (p.Arg626=) | |
17 | g.44254585A>T | CA500285598 | SLC4A1 | c.1968T>A (p.Arg656=) c.870T>A (p.Arg290=) c.1773T>A (p.Arg591=) c.1878T>A (p.Arg626=) | |
17 | g.44254586C>A | CA399782980 | SLC4A1 | c.1967G>T (p.Arg656Leu) c.869G>T (p.Arg290Leu) c.1772G>T (p.Arg591Leu) c.1877G>T (p.Arg626Leu) | |
17 | g.44254586C= | CA2261308280 | SLC4A1 | c.1967G= (p.Arg656=) c.869G= (p.Arg290=) c.1772G= (p.Arg591=) c.1877G= (p.Arg626=) | |
17 | g.44254586C>G | CA399782983 | SLC4A1 | c.1967G>C (p.Arg656Pro) c.869G>C (p.Arg290Pro) c.1772G>C (p.Arg591Pro) c.1877G>C (p.Arg626Pro) | ClinVar |
17 | g.44254586C>T | CA8600157 | SLC4A1 | c.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 |
17 | g.44254587G>A | CA8600158 | SLC4A1 | c.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 |
17 | g.44254587G>C | CA399783010 | SLC4A1 | c.1966C>G (p.Arg656Gly) c.868C>G (p.Arg290Gly) c.1771C>G (p.Arg591Gly) c.1876C>G (p.Arg626Gly) | |
17 | g.44254587G= | CA2261308281 | SLC4A1 | c.1966C= (p.Arg656=) c.868C= (p.Arg290=) c.1771C= (p.Arg591=) c.1876C= (p.Arg626=) | |
17 | g.44254587G>T | CA399783020 | SLC4A1 | c.1966C>A (p.Arg656Ser) c.868C>A (p.Arg290Ser) c.1771C>A (p.Arg591Ser) c.1876C>A (p.Arg626Ser) | gnomAD v4 |
17 | g.44254588C>A | CA399783028 | SLC4A1 | c.1965G>T (p.Leu655Phe) c.867G>T (p.Leu289Phe) c.1770G>T (p.Leu590Phe) c.1875G>T (p.Leu625Phe) | |
17 | g.44254588C>G | CA399783026 | SLC4A1 | c.1965G>C (p.Leu655Phe) c.867G>C (p.Leu289Phe) c.1770G>C (p.Leu590Phe) c.1875G>C (p.Leu625Phe) | |
17 | g.44254588C>T | CA500285609 | SLC4A1 | c.1965G>A (p.Leu655=) c.867G>A (p.Leu289=) c.1770G>A (p.Leu590=) c.1875G>A (p.Leu625=) | |
17 | g.44254589A>C | CA399783032 | SLC4A1 | c.1964T>G (p.Leu655Trp) c.866T>G (p.Leu289Trp) c.1769T>G (p.Leu590Trp) c.1874T>G (p.Leu625Trp) | |
17 | g.44254589A>G | CA399783044 | SLC4A1 | c.1964T>C (p.Leu655Ser) c.866T>C (p.Leu289Ser) c.1769T>C (p.Leu590Ser) c.1874T>C (p.Leu625Ser) | |
17 | g.44254589A>T | CA399783048 | SLC4A1 | c.1964T>A (p.Leu655Ter) c.866T>A (p.Leu289Ter) c.1769T>A (p.Leu590Ter) c.1874T>A (p.Leu625Ter) | |
17 | g.44254590A>C | CA399783050 | SLC4A1 | c.1963T>G (p.Leu655Val) c.865T>G (p.Leu289Val) c.1768T>G (p.Leu590Val) c.1873T>G (p.Leu625Val) | |
17 | g.44254590A>G | CA500285617 | SLC4A1 | c.1963T>C (p.Leu655=) c.865T>C (p.Leu289=) c.1768T>C (p.Leu590=) c.1873T>C (p.Leu625=) | |
17 | g.44254590A>T | CA399783051 | SLC4A1 | c.1963T>A (p.Leu655Met) c.865T>A (p.Leu289Met) c.1768T>A (p.Leu590Met) c.1873T>A (p.Leu625Met) | |
17 | g.44254591G>A | CA500285619 | SLC4A1 | c.1962C>T (p.Gly654=) c.864C>T (p.Gly288=) c.1767C>T (p.Gly589=) c.1872C>T (p.Gly624=) | gnomAD v4 |
17 | g.44254591G>C | CA500285620 | SLC4A1 | c.1962C>G (p.Gly654=) c.864C>G (p.Gly288=) c.1767C>G (p.Gly589=) c.1872C>G (p.Gly624=) | |
17 | g.44254591G>T | CA500285622 | SLC4A1 | c.1962C>A (p.Gly654=) c.864C>A (p.Gly288=) c.1767C>A (p.Gly589=) c.1872C>A (p.Gly624=) | |
17 | g.44254592C>A | CA399783061 | SLC4A1 | c.1961G>T (p.Gly654Val) c.863G>T (p.Gly288Val) c.1766G>T (p.Gly589Val) c.1871G>T (p.Gly624Val) | |
17 | g.44254592C>G | CA399783064 | SLC4A1 | c.1961G>C (p.Gly654Ala) c.863G>C (p.Gly288Ala) c.1766G>C (p.Gly589Ala) c.1871G>C (p.Gly624Ala) | |
17 | g.44254592C>T | CA399783073 | SLC4A1 | c.1961G>A (p.Gly654Asp) c.863G>A (p.Gly288Asp) c.1766G>A (p.Gly589Asp) c.1871G>A (p.Gly624Asp) | gnomAD v4 |
17 | g.44254593C>A | CA399783076 | SLC4A1 | c.1960G>T (p.Gly654Cys) c.862G>T (p.Gly288Cys) c.1765G>T (p.Gly589Cys) c.1870G>T (p.Gly624Cys) | |
17 | g.44254593C>G | CA399783078 | SLC4A1 | c.1960G>C (p.Gly654Arg) c.862G>C (p.Gly288Arg) c.1765G>C (p.Gly589Arg) c.1870G>C (p.Gly624Arg) | |
17 | g.44254593C>T | CA399783082 | SLC4A1 | c.1960G>A (p.Gly654Ser) c.862G>A (p.Gly288Ser) c.1765G>A (p.Gly589Ser) c.1870G>A (p.Gly624Ser) | gnomAD v4 |
17 | g.44254594C>A | CA8600159 | SLC4A1 | c.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 |
17 | g.44254594C= | CA2261308282 | SLC4A1 | c.1959G= (p.Leu653=) c.861G= (p.Leu287=) c.1764G= (p.Leu588=) c.1869G= (p.Leu623=) | |
17 | g.44254594C>G | CA500285636 | SLC4A1 | c.1959G>C (p.Leu653=) c.861G>C (p.Leu287=) c.1764G>C (p.Leu588=) c.1869G>C (p.Leu623=) | |
17 | g.44254594C>T | CA500285633 | SLC4A1 | c.1959G>A (p.Leu653=) c.861G>A (p.Leu287=) c.1764G>A (p.Leu588=) c.1869G>A (p.Leu623=) | COSMIC |
17 | g.44254595A>C | CA399783088 | SLC4A1 | c.1958T>G (p.Leu653Arg) c.860T>G (p.Leu287Arg) c.1763T>G (p.Leu588Arg) c.1868T>G (p.Leu623Arg) | gnomAD v4 |
17 | g.44254595A>G | CA399783089 | SLC4A1 | c.1958T>C (p.Leu653Pro) c.860T>C (p.Leu287Pro) c.1763T>C (p.Leu588Pro) c.1868T>C (p.Leu623Pro) | |
17 | g.44254595A>T | CA399783086 | SLC4A1 | c.1958T>A (p.Leu653Gln) c.860T>A (p.Leu287Gln) c.1763T>A (p.Leu588Gln) c.1868T>A (p.Leu623Gln) | |
17 | g.44254596del | CA2580093861 | SLC4A1 | c.1957del (p.Leu653TrpfsTer11) c.859del (p.Leu287TrpfsTer11) c.1762del (p.Leu588TrpfsTer11) c.1867del (p.Leu623TrpfsTer11) | ClinVar |
17 | g.44254596G>A | CA500285642 | SLC4A1 | c.1957C>T (p.Leu653=) c.859C>T (p.Leu287=) c.1762C>T (p.Leu588=) c.1867C>T (p.Leu623=) | |
17 | g.44254596G>C | CA399783092 | SLC4A1 | c.1957C>G (p.Leu653Val) c.859C>G (p.Leu287Val) c.1762C>G (p.Leu588Val) c.1867C>G (p.Leu623Val) | |
17 | g.44254596G>T | CA399783095 | SLC4A1 | c.1957C>A (p.Leu653Met) c.859C>A (p.Leu287Met) c.1762C>A (p.Leu588Met) c.1867C>A (p.Leu623Met) | |
17 | g.44254597T>A | CA500285646 | SLC4A1 | c.1956A>T (p.Pro652=) c.858A>T (p.Pro286=) c.1761A>T (p.Pro587=) c.1866A>T (p.Pro622=) | |
17 | g.44254597T>C | CA500285648 | SLC4A1 | c.1956A>G (p.Pro652=) c.858A>G (p.Pro286=) c.1761A>G (p.Pro587=) c.1866A>G (p.Pro622=) | |
17 | g.44254597T>G | CA500285650 | SLC4A1 | c.1956A>C (p.Pro652=) c.858A>C (p.Pro286=) c.1761A>C (p.Pro587=) c.1866A>C (p.Pro622=) | gnomAD v4 |
17 | g.44254597_44254598delinsTG | CA2261308283 | SLC4A1 | c.1955_1956delinsCA (p.Pro652=) c.857_858delinsCA (p.Pro286=) c.1760_1761delinsCA (p.Pro587=) c.1865_1866delinsCA (p.Pro622=) | |
17 | g.44254598G>A | CA399783098 | SLC4A1 | c.1955C>T (p.Pro652Leu) c.857C>T (p.Pro286Leu) c.1760C>T (p.Pro587Leu) c.1865C>T (p.Pro622Leu) | |
17 | g.44254598G>C | CA399783102 | SLC4A1 | c.1955C>G (p.Pro652Arg) c.857C>G (p.Pro286Arg) c.1760C>G (p.Pro587Arg) c.1865C>G (p.Pro622Arg) | |
17 | g.44254598G>T | CA399783106 | SLC4A1 | c.1955C>A (p.Pro652Gln) c.857C>A (p.Pro286Gln) c.1760C>A (p.Pro587Gln) c.1865C>A (p.Pro622Gln) | |
17 | g.44254600del | CA626124751 | SLC4A1 | c.1955del (p.Pro652HisfsTer12) c.857del (p.Pro286HisfsTer12) c.1760del (p.Pro587HisfsTer12) c.1865del (p.Pro622HisfsTer12) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254599G>A | CA399783118 | SLC4A1 | c.1954C>T (p.Pro652Ser) c.856C>T (p.Pro286Ser) c.1759C>T (p.Pro587Ser) c.1864C>T (p.Pro622Ser) | ClinVar |
17 | g.44254599G>C | CA399783114 | SLC4A1 | c.1954C>G (p.Pro652Ala) c.856C>G (p.Pro286Ala) c.1759C>G (p.Pro587Ala) c.1864C>G (p.Pro622Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254599G= | CA2261308284 | SLC4A1 | c.1954C= (p.Pro652=) c.856C= (p.Pro286=) c.1759C= (p.Pro587=) c.1864C= (p.Pro622=) | |
17 | g.44254599G>T | CA399783115 | SLC4A1 | c.1954C>A (p.Pro652Thr) c.856C>A (p.Pro286Thr) c.1759C>A (p.Pro587Thr) c.1864C>A (p.Pro622Thr) | |
17 | g.44254600G>A | CA8600160 | SLC4A1 | c.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 |
17 | g.44254600G>C | CA399783132 | SLC4A1 | c.1953C>G (p.His651Gln) c.855C>G (p.His285Gln) c.1758C>G (p.His586Gln) c.1863C>G (p.His621Gln) | |
17 | g.44254600G= | CA2261308285 | SLC4A1 | c.1953C= (p.His651=) c.855C= (p.His285=) c.1758C= (p.His586=) c.1863C= (p.His621=) | |
17 | g.44254600G>T | CA399783136 | SLC4A1 | c.1953C>A (p.His651Gln) c.855C>A (p.His285Gln) c.1758C>A (p.His586Gln) c.1863C>A (p.His621Gln) | |
17 | g.44254601T>A | CA399783141 | SLC4A1 | c.1952A>T (p.His651Leu) c.854A>T (p.His285Leu) c.1757A>T (p.His586Leu) c.1862A>T (p.His621Leu) | |
17 | g.44254601T>C | CA399783149 | SLC4A1 | c.1952A>G (p.His651Arg) c.854A>G (p.His285Arg) c.1757A>G (p.His586Arg) c.1862A>G (p.His621Arg) | gnomAD v4 |
17 | g.44254601T>G | CA399783152 | SLC4A1 | c.1952A>C (p.His651Pro) c.854A>C (p.His285Pro) c.1757A>C (p.His586Pro) c.1862A>C (p.His621Pro) | |
17 | g.44254602G>A | CA399783156 | SLC4A1 | c.1951C>T (p.His651Tyr) c.853C>T (p.His285Tyr) c.1756C>T (p.His586Tyr) c.1861C>T (p.His621Tyr) | gnomAD v4 |
17 | g.44254602G>C | CA399783157 | SLC4A1 | c.1951C>G (p.His651Asp) c.853C>G (p.His285Asp) c.1756C>G (p.His586Asp) c.1861C>G (p.His621Asp) | |
17 | g.44254602G>T | CA399783155 | SLC4A1 | c.1951C>A (p.His651Asn) c.853C>A (p.His285Asn) c.1756C>A (p.His586Asn) c.1861C>A (p.His621Asn) | |
17 | g.44254603G>A | CA500285669 | SLC4A1 | c.1950C>T (p.Ile650=) c.852C>T (p.Ile284=) c.1755C>T (p.Ile585=) c.1860C>T (p.Ile620=) | |
17 | g.44254603G>C | CA399783162 | SLC4A1 | c.1950C>G (p.Ile650Met) c.852C>G (p.Ile284Met) c.1755C>G (p.Ile585Met) c.1860C>G (p.Ile620Met) | |
17 | g.44254603G>T | CA500285670 | SLC4A1 | c.1950C>A (p.Ile650=) c.852C>A (p.Ile284=) c.1755C>A (p.Ile585=) c.1860C>A (p.Ile620=) | |
17 | g.44254604A>C | CA399783169 | SLC4A1 | c.1949T>G (p.Ile650Ser) c.851T>G (p.Ile284Ser) c.1754T>G (p.Ile585Ser) c.1859T>G (p.Ile620Ser) | |
17 | g.44254604A>G | CA399783172 | SLC4A1 | c.1949T>C (p.Ile650Thr) c.851T>C (p.Ile284Thr) c.1754T>C (p.Ile585Thr) c.1859T>C (p.Ile620Thr) | |
17 | g.44254604A>T | CA399783173 | SLC4A1 | c.1949T>A (p.Ile650Asn) c.851T>A (p.Ile284Asn) c.1754T>A (p.Ile585Asn) c.1859T>A (p.Ile620Asn) | |
17 | g.44254605T>A | CA399783178 | SLC4A1 | c.1948A>T (p.Ile650Phe) c.850A>T (p.Ile284Phe) c.1753A>T (p.Ile585Phe) c.1858A>T (p.Ile620Phe) | |
17 | g.44254605T>C | CA399783181 | SLC4A1 | c.1948A>G (p.Ile650Val) c.850A>G (p.Ile284Val) c.1753A>G (p.Ile585Val) c.1858A>G (p.Ile620Val) | gnomAD v4 |
17 | g.44254605T>G | CA399783183 | SLC4A1 | c.1948A>C (p.Ile650Leu) c.850A>C (p.Ile284Leu) c.1753A>C (p.Ile585Leu) c.1858A>C (p.Ile620Leu) | gnomAD v4 |
17 | g.44254606G>A | CA8600161 | SLC4A1 | c.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 |
17 | g.44254606G>C | CA500285680 | SLC4A1 | c.1947C>G (p.Val649=) c.849C>G (p.Val283=) c.1752C>G (p.Val584=) c.1857C>G (p.Val619=) | |
17 | g.44254606G= | CA2261308286 | SLC4A1 | c.1947C= (p.Val649=) c.849C= (p.Val283=) c.1752C= (p.Val584=) c.1857C= (p.Val619=) | |
17 | g.44254606G>T | CA500285682 | SLC4A1 | c.1947C>A (p.Val649=) c.849C>A (p.Val283=) c.1752C>A (p.Val584=) c.1857C>A (p.Val619=) | |
17 | g.44254607A>C | CA399783193 | SLC4A1 | c.1946T>G (p.Val649Gly) c.848T>G (p.Val283Gly) c.1751T>G (p.Val584Gly) c.1856T>G (p.Val619Gly) | |
17 | g.44254607A>G | CA399783200 | SLC4A1 | c.1946T>C (p.Val649Ala) c.848T>C (p.Val283Ala) c.1751T>C (p.Val584Ala) c.1856T>C (p.Val619Ala) | |
17 | g.44254607A>T | CA399783211 | SLC4A1 | c.1946T>A (p.Val649Asp) c.848T>A (p.Val283Asp) c.1751T>A (p.Val584Asp) c.1856T>A (p.Val619Asp) | |
17 | g.44254608C>A | CA399783214 | SLC4A1 | c.1945G>T (p.Val649Phe) c.847G>T (p.Val283Phe) c.1750G>T (p.Val584Phe) c.1855G>T (p.Val619Phe) | |
17 | g.44254608C>G | CA399783216 | SLC4A1 | c.1945G>C (p.Val649Leu) c.847G>C (p.Val283Leu) c.1750G>C (p.Val584Leu) c.1855G>C (p.Val619Leu) | |
17 | g.44254608C>T | CA399783221 | SLC4A1 | c.1945G>A (p.Val649Ile) c.847G>A (p.Val283Ile) c.1750G>A (p.Val584Ile) c.1855G>A (p.Val619Ile) | |
17 | g.44254609C>A | CA399783245 | SLC4A1 | c.1944G>T (p.Trp648Cys) c.846G>T (p.Trp282Cys) c.1749G>T (p.Trp583Cys) c.1854G>T (p.Trp618Cys) | |
17 | g.44254609C= | CA2261308287 | SLC4A1 | c.1944G= (p.Trp648=) c.846G= (p.Trp282=) c.1749G= (p.Trp583=) c.1854G= (p.Trp618=) | |
17 | g.44254609C>G | CA399783241 | SLC4A1 | c.1944G>C (p.Trp648Cys) c.846G>C (p.Trp282Cys) c.1749G>C (p.Trp583Cys) c.1854G>C (p.Trp618Cys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254609C>T | CA399783238 | SLC4A1 | c.1944G>A (p.Trp648Ter) c.846G>A (p.Trp282Ter) c.1749G>A (p.Trp583Ter) c.1854G>A (p.Trp618Ter) | |
17 | g.44254610C>A | CA399783249 | SLC4A1 | c.1943G>T (p.Trp648Leu) c.845G>T (p.Trp282Leu) c.1748G>T (p.Trp583Leu) c.1853G>T (p.Trp618Leu) | |
17 | g.44254610C>G | CA399783252 | SLC4A1 | c.1943G>C (p.Trp648Ser) c.845G>C (p.Trp282Ser) c.1748G>C (p.Trp583Ser) c.1853G>C (p.Trp618Ser) | gnomAD v4 |
17 | g.44254610C>T | CA399783255 | SLC4A1 | c.1943G>A (p.Trp648Ter) c.845G>A (p.Trp282Ter) c.1748G>A (p.Trp583Ter) c.1853G>A (p.Trp618Ter) | ClinVar |
17 | g.44254611A>C | CA399783266 | SLC4A1 | c.1942T>G (p.Trp648Gly) c.844T>G (p.Trp282Gly) c.1747T>G (p.Trp583Gly) c.1852T>G (p.Trp618Gly) | |
17 | g.44254611A>G | CA399783269 | SLC4A1 | c.1942T>C (p.Trp648Arg) c.844T>C (p.Trp282Arg) c.1747T>C (p.Trp583Arg) c.1852T>C (p.Trp618Arg) | |
17 | g.44254611A>T | CA399783271 | SLC4A1 | c.1942T>A (p.Trp648Arg) c.844T>A (p.Trp282Arg) c.1747T>A (p.Trp583Arg) c.1852T>A (p.Trp618Arg) | |
17 | g.44254612G>A | CA500285702 | SLC4A1 | c.1941C>T (p.Gly647=) c.843C>T (p.Gly281=) c.1746C>T (p.Gly582=) c.1851C>T (p.Gly617=) | |
17 | g.44254612G>C | CA290928549 | SLC4A1 | c.1941C>G (p.Gly647=) c.843C>G (p.Gly281=) c.1746C>G (p.Gly582=) c.1851C>G (p.Gly617=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254612G= | CA2261308288 | SLC4A1 | c.1941C= (p.Gly647=) c.843C= (p.Gly281=) c.1746C= (p.Gly582=) c.1851C= (p.Gly617=) | |
17 | g.44254612G>T | CA500285706 | SLC4A1 | c.1941C>A (p.Gly647=) c.843C>A (p.Gly281=) c.1746C>A (p.Gly582=) c.1851C>A (p.Gly617=) | |
17 | g.44254613C>A | CA399783277 | SLC4A1 | c.1940G>T (p.Gly647Val) c.842G>T (p.Gly281Val) c.1745G>T (p.Gly582Val) c.1850G>T (p.Gly617Val) | COSMIC |
17 | g.44254613C= | CA2261308289 | SLC4A1 | c.1940G= (p.Gly647=) c.842G= (p.Gly281=) c.1745G= (p.Gly582=) c.1850G= (p.Gly617=) | |
17 | g.44254613C>G | CA399783280 | SLC4A1 | c.1940G>C (p.Gly647Ala) c.842G>C (p.Gly281Ala) c.1745G>C (p.Gly582Ala) c.1850G>C (p.Gly617Ala) | |
17 | g.44254613C>T | CA8600162 | SLC4A1 | c.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 |
17 | g.44254616del | CA2638191307 | SLC4A1 | c.1940del (p.Gly647AlafsTer17) c.842del (p.Gly281AlafsTer17) c.1745del (p.Gly582AlafsTer17) c.1850del (p.Gly617AlafsTer17) | gnomAD v4 |
17 | g.44254614C>A | CA399783292 | SLC4A1 | c.1939G>T (p.Gly647Cys) c.841G>T (p.Gly281Cys) c.1744G>T (p.Gly582Cys) c.1849G>T (p.Gly617Cys) | |
17 | g.44254614C>G | CA399783294 | SLC4A1 | c.1939G>C (p.Gly647Arg) c.841G>C (p.Gly281Arg) c.1744G>C (p.Gly582Arg) c.1849G>C (p.Gly617Arg) | |
17 | g.44254614C>T | CA399783298 | SLC4A1 | c.1939G>A (p.Gly647Ser) c.841G>A (p.Gly281Ser) c.1744G>A (p.Gly582Ser) c.1849G>A (p.Gly617Ser) | |
17 | g.44254615C>A | CA500285719 | SLC4A1 | c.1938G>T (p.Arg646=) c.840G>T (p.Arg280=) c.1743G>T (p.Arg581=) c.1848G>T (p.Arg616=) | |
17 | g.44254615C>G | CA500285721 | SLC4A1 | c.1938G>C (p.Arg646=) c.840G>C (p.Arg280=) c.1743G>C (p.Arg581=) c.1848G>C (p.Arg616=) | |
17 | g.44254615C>T | CA500285716 | SLC4A1 | c.1938G>A (p.Arg646=) c.840G>A (p.Arg280=) c.1743G>A (p.Arg581=) c.1848G>A (p.Arg616=) | gnomAD v4 |
17 | g.44254616C>A | CA399783302 | SLC4A1 | c.1937G>T (p.Arg646Leu) c.839G>T (p.Arg280Leu) c.1742G>T (p.Arg581Leu) c.1847G>T (p.Arg616Leu) | |
17 | g.44254616C= | CA2261308290 | SLC4A1 | c.1937G= (p.Arg646=) c.839G= (p.Arg280=) c.1742G= (p.Arg581=) c.1847G= (p.Arg616=) | |
17 | g.44254616C>G | CA399783305 | SLC4A1 | c.1937G>C (p.Arg646Pro) c.839G>C (p.Arg280Pro) c.1742G>C (p.Arg581Pro) c.1847G>C (p.Arg616Pro) | gnomAD v4 |
17 | g.44254616C>T | CA127408 | SLC4A1 | c.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 |
17 | g.44254617G>A | CA127400 | SLC4A1 | c.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 |
17 | g.44254617G>C | CA399783310 | SLC4A1 | c.1936C>G (p.Arg646Gly) c.838C>G (p.Arg280Gly) c.1741C>G (p.Arg581Gly) c.1846C>G (p.Arg616Gly) | gnomAD v3 gnomAD v4 |
17 | g.44254617G= | CA2261308291 | SLC4A1 | c.1936C= (p.Arg646=) c.838C= (p.Arg280=) c.1741C= (p.Arg581=) c.1846C= (p.Arg616=) | |
17 | g.44254617G>T | CA290928566 | SLC4A1 | c.1936C>A (p.Arg646=) c.838C>A (p.Arg280=) c.1741C>A (p.Arg581=) c.1846C>A (p.Arg616=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254618G>A | CA500285735 | SLC4A1 | c.1935C>T (p.Ala645=) c.837C>T (p.Ala279=) c.1740C>T (p.Ala580=) c.1845C>T (p.Ala615=) | |
17 | g.44254618G>C | CA8600163 | SLC4A1 | c.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 |
17 | g.44254618G= | CA2261308292 | SLC4A1 | c.1935C= (p.Ala645=) c.837C= (p.Ala279=) c.1740C= (p.Ala580=) c.1845C= (p.Ala615=) | |
17 | g.44254618G>T | CA500285732 | SLC4A1 | c.1935C>A (p.Ala645=) c.837C>A (p.Ala279=) c.1740C>A (p.Ala580=) c.1845C>A (p.Ala615=) | |
17 | g.44254619G>A | CA399783321 | SLC4A1 | c.1934C>T (p.Ala645Val) c.836C>T (p.Ala279Val) c.1739C>T (p.Ala580Val) c.1844C>T (p.Ala615Val) | |
17 | g.44254619G>C | CA399783324 | SLC4A1 | c.1934C>G (p.Ala645Gly) c.836C>G (p.Ala279Gly) c.1739C>G (p.Ala580Gly) c.1844C>G (p.Ala615Gly) | |
17 | g.44254619G>T | CA399783331 | SLC4A1 | c.1934C>A (p.Ala645Asp) c.836C>A (p.Ala279Asp) c.1739C>A (p.Ala580Asp) c.1844C>A (p.Ala615Asp) | |
17 | g.44254620C>A | CA399783334 | SLC4A1 | c.1933G>T (p.Ala645Ser) c.835G>T (p.Ala279Ser) c.1738G>T (p.Ala580Ser) c.1843G>T (p.Ala615Ser) | |
17 | g.44254620C>G | CA399783349 | SLC4A1 | c.1933G>C (p.Ala645Pro) c.835G>C (p.Ala279Pro) c.1738G>C (p.Ala580Pro) c.1843G>C (p.Ala615Pro) | |
17 | g.44254620C>T | CA399783352 | SLC4A1 | c.1933G>A (p.Ala645Thr) c.835G>A (p.Ala279Thr) c.1738G>A (p.Ala580Thr) c.1843G>A (p.Ala615Thr) | |
17 | g.44254621T>A | CA500285746 | SLC4A1 | c.1932A>T (p.Ser644=) c.834A>T (p.Ser278=) c.1737A>T (p.Ser579=) c.1842A>T (p.Ser614=) | |
17 | g.44254621T>C | CA500285749 | SLC4A1 | c.1932A>G (p.Ser644=) c.834A>G (p.Ser278=) c.1737A>G (p.Ser579=) c.1842A>G (p.Ser614=) | |
17 | g.44254621T>G | CA500285748 | SLC4A1 | c.1932A>C (p.Ser644=) c.834A>C (p.Ser278=) c.1737A>C (p.Ser579=) c.1842A>C (p.Ser614=) | |
17 | g.44254622G>A | CA399783356 | SLC4A1 | c.1931C>T (p.Ser644Leu) c.833C>T (p.Ser278Leu) c.1736C>T (p.Ser579Leu) c.1841C>T (p.Ser614Leu) | |
17 | g.44254622G>C | CA399783358 | SLC4A1 | c.1931C>G (p.Ser644Ter) c.833C>G (p.Ser278Ter) c.1736C>G (p.Ser579Ter) c.1841C>G (p.Ser614Ter) | |
17 | g.44254622G>T | CA399783361 | SLC4A1 | c.1931C>A (p.Ser644Ter) c.833C>A (p.Ser278Ter) c.1736C>A (p.Ser579Ter) c.1841C>A (p.Ser614Ter) | |
17 | g.44254623A>C | CA399783371 | SLC4A1 | c.1930T>G (p.Ser644Ala) c.832T>G (p.Ser278Ala) c.1735T>G (p.Ser579Ala) c.1840T>G (p.Ser614Ala) | |
17 | g.44254623A>G | CA399783366 | SLC4A1 | c.1930T>C (p.Ser644Pro) c.832T>C (p.Ser278Pro) c.1735T>C (p.Ser579Pro) c.1840T>C (p.Ser614Pro) | |
17 | g.44254623A>T | CA399783369 | SLC4A1 | c.1930T>A (p.Ser644Thr) c.832T>A (p.Ser278Thr) c.1735T>A (p.Ser579Thr) c.1840T>A (p.Ser614Thr) | |
17 | g.44254624G>A | CA500285760 | SLC4A1 | c.1929C>T (p.Ser643=) c.831C>T (p.Ser277=) c.1734C>T (p.Ser578=) c.1839C>T (p.Ser613=) | |
17 | g.44254624G>C | CA500285762 | SLC4A1 | c.1929C>G (p.Ser643=) c.831C>G (p.Ser277=) c.1734C>G (p.Ser578=) c.1839C>G (p.Ser613=) | |
17 | g.44254624G>T | CA500285764 | SLC4A1 | c.1929C>A (p.Ser643=) c.831C>A (p.Ser277=) c.1734C>A (p.Ser578=) c.1839C>A (p.Ser613=) | |
17 | g.44254625G>A | CA8600164 | SLC4A1 | c.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 |
17 | g.44254625G>C | CA399783375 | SLC4A1 | c.1928C>G (p.Ser643Cys) c.830C>G (p.Ser277Cys) c.1733C>G (p.Ser578Cys) c.1838C>G (p.Ser613Cys) | |
17 | g.44254625G= | CA2261308293 | SLC4A1 | c.1928C= (p.Ser643=) c.830C= (p.Ser277=) c.1733C= (p.Ser578=) c.1838C= (p.Ser613=) | |
17 | g.44254625G>T | CA399783378 | SLC4A1 | c.1928C>A (p.Ser643Tyr) c.830C>A (p.Ser277Tyr) c.1733C>A (p.Ser578Tyr) c.1838C>A (p.Ser613Tyr) | |
17 | g.44254626A= | CA2261308294 | SLC4A1 | c.1927T= (p.Ser643=) c.829T= (p.Ser277=) c.1732T= (p.Ser578=) c.1837T= (p.Ser613=) | |
17 | g.44254626A>C | CA399783385 | SLC4A1 | c.1927T>G (p.Ser643Ala) c.829T>G (p.Ser277Ala) c.1732T>G (p.Ser578Ala) c.1837T>G (p.Ser613Ala) | |
17 | g.44254626A>G | CA399783387 | SLC4A1 | c.1927T>C (p.Ser643Pro) c.829T>C (p.Ser277Pro) c.1732T>C (p.Ser578Pro) c.1837T>C (p.Ser613Pro) | |
17 | g.44254626A>T | CA399783389 | SLC4A1 | c.1927T>A (p.Ser643Thr) c.829T>A (p.Ser277Thr) c.1732T>A (p.Ser578Thr) c.1837T>A (p.Ser613Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254627G>A | CA8600165 | SLC4A1 | c.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 |
17 | g.44254627G>C | CA399783392 | SLC4A1 | c.1926C>G (p.Asn642Lys) c.828C>G (p.Asn276Lys) c.1731C>G (p.Asn577Lys) c.1836C>G (p.Asn612Lys) | |
17 | g.44254627G= | CA2261308295 | SLC4A1 | c.1926C= (p.Asn642=) c.828C= (p.Asn276=) c.1731C= (p.Asn577=) c.1836C= (p.Asn612=) | |
17 | g.44254627G>T | CA399783394 | SLC4A1 | c.1926C>A (p.Asn642Lys) c.828C>A (p.Asn276Lys) c.1731C>A (p.Asn577Lys) c.1836C>A (p.Asn612Lys) | |
17 | g.44254628T>A | CA399783400 | SLC4A1 | c.1925A>T (p.Asn642Ile) c.827A>T (p.Asn276Ile) c.1730A>T (p.Asn577Ile) c.1835A>T (p.Asn612Ile) | |
17 | g.44254628T>C | CA399783401 | SLC4A1 | c.1925A>G (p.Asn642Ser) c.827A>G (p.Asn276Ser) c.1730A>G (p.Asn577Ser) c.1835A>G (p.Asn612Ser) | gnomAD v4 |
17 | g.44254628T>G | CA399783404 | SLC4A1 | c.1925A>C (p.Asn642Thr) c.827A>C (p.Asn276Thr) c.1730A>C (p.Asn577Thr) c.1835A>C (p.Asn612Thr) | |
17 | g.44254629T>A | CA399783411 | SLC4A1 | c.1924A>T (p.Asn642Tyr) c.826A>T (p.Asn276Tyr) c.1729A>T (p.Asn577Tyr) c.1834A>T (p.Asn612Tyr) | |
17 | g.44254629T>C | CA399783413 | SLC4A1 | c.1924A>G (p.Asn642Asp) c.826A>G (p.Asn276Asp) c.1729A>G (p.Asn577Asp) c.1834A>G (p.Asn612Asp) | |
17 | g.44254629T>G | CA399783410 | SLC4A1 | c.1924A>C (p.Asn642His) c.826A>C (p.Asn276His) c.1729A>C (p.Asn577His) c.1834A>C (p.Asn612His) | |
17 | g.44254630G>A | CA500285786 | SLC4A1 | c.1923C>T (p.Ser641=) c.825C>T (p.Ser275=) c.1728C>T (p.Ser576=) c.1833C>T (p.Ser611=) | |
17 | g.44254630G>C | CA500285788 | SLC4A1 | c.1923C>G (p.Ser641=) c.825C>G (p.Ser275=) c.1728C>G (p.Ser576=) c.1833C>G (p.Ser611=) | |
17 | g.44254630G>T | CA500285789 | SLC4A1 | c.1923C>A (p.Ser641=) c.825C>A (p.Ser275=) c.1728C>A (p.Ser576=) c.1833C>A (p.Ser611=) | |
17 | g.44254631G>A | CA399783418 | SLC4A1 | c.1922C>T (p.Ser641Phe) c.824C>T (p.Ser275Phe) c.1727C>T (p.Ser576Phe) c.1832C>T (p.Ser611Phe) | |
17 | g.44254631G>C | CA399783422 | SLC4A1 | c.1922C>G (p.Ser641Cys) c.824C>G (p.Ser275Cys) c.1727C>G (p.Ser576Cys) c.1832C>G (p.Ser611Cys) | |
17 | g.44254631G>T | CA399783423 | SLC4A1 | c.1922C>A (p.Ser641Tyr) c.824C>A (p.Ser275Tyr) c.1727C>A (p.Ser576Tyr) c.1832C>A (p.Ser611Tyr) | gnomAD v4 |
17 | g.44254632A>C | CA399783427 | SLC4A1 | c.1921T>G (p.Ser641Ala) c.823T>G (p.Ser275Ala) c.1726T>G (p.Ser576Ala) c.1831T>G (p.Ser611Ala) | |
17 | g.44254632A>G | CA399783429 | SLC4A1 | c.1921T>C (p.Ser641Pro) c.823T>C (p.Ser275Pro) c.1726T>C (p.Ser576Pro) c.1831T>C (p.Ser611Pro) | |
17 | g.44254632A>T | CA399783431 | SLC4A1 | c.1921T>A (p.Ser641Thr) c.823T>A (p.Ser275Thr) c.1726T>A (p.Ser576Thr) c.1831T>A (p.Ser611Thr) | |
17 | g.44254633C>A | CA500285800 | SLC4A1 | c.1920G>T (p.Val640=) c.822G>T (p.Val274=) c.1725G>T (p.Val575=) c.1830G>T (p.Val610=) | |
17 | g.44254633C>G | CA500285802 | SLC4A1 | c.1920G>C (p.Val640=) c.822G>C (p.Val274=) c.1725G>C (p.Val575=) c.1830G>C (p.Val610=) | COSMIC |
17 | g.44254633C>T | CA500285804 | SLC4A1 | c.1920G>A (p.Val640=) c.822G>A (p.Val274=) c.1725G>A (p.Val575=) c.1830G>A (p.Val610=) | dbSNP |
17 | g.44254634A>C | CA399783441 | SLC4A1 | c.1919T>G (p.Val640Gly) c.821T>G (p.Val274Gly) c.1724T>G (p.Val575Gly) c.1829T>G (p.Val610Gly) | |
17 | g.44254634A>G | CA399783436 | SLC4A1 | c.1919T>C (p.Val640Ala) c.821T>C (p.Val274Ala) c.1724T>C (p.Val575Ala) c.1829T>C (p.Val610Ala) | gnomAD v4 |
17 | g.44254634A>T | CA399783438 | SLC4A1 | c.1919T>A (p.Val640Glu) c.821T>A (p.Val274Glu) c.1724T>A (p.Val575Glu) c.1829T>A (p.Val610Glu) | gnomAD v4 |
17 | g.44254635C>A | CA399783447 | SLC4A1 | c.1918G>T (p.Val640Leu) c.820G>T (p.Val274Leu) c.1723G>T (p.Val575Leu) c.1828G>T (p.Val610Leu) | |
17 | g.44254635C= | CA2261308296 | SLC4A1 | c.1918G= (p.Val640=) c.820G= (p.Val274=) c.1723G= (p.Val575=) c.1828G= (p.Val610=) | |
17 | g.44254635C>G | CA399783449 | SLC4A1 | c.1918G>C (p.Val640Leu) c.820G>C (p.Val274Leu) c.1723G>C (p.Val575Leu) c.1828G>C (p.Val610Leu) | dbSNP |
17 | g.44254635C>T | CA8600166 | SLC4A1 | c.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 |
17 | g.44254636C>A | CA399783453 | SLC4A1 | c.1917G>T (p.Lys639Asn) c.819G>T (p.Lys273Asn) c.1722G>T (p.Lys574Asn) c.1827G>T (p.Lys609Asn) | |
17 | g.44254636C>G | CA399783454 | SLC4A1 | c.1917G>C (p.Lys639Asn) c.819G>C (p.Lys273Asn) c.1722G>C (p.Lys574Asn) c.1827G>C (p.Lys609Asn) | |
17 | g.44254636C>T | CA500285815 | SLC4A1 | c.1917G>A (p.Lys639=) c.819G>A (p.Lys273=) c.1722G>A (p.Lys574=) c.1827G>A (p.Lys609=) | gnomAD v4 |
17 | g.44254637T>A | CA399783461 | SLC4A1 | c.1916A>T (p.Lys639Met) c.818A>T (p.Lys273Met) c.1721A>T (p.Lys574Met) c.1826A>T (p.Lys609Met) | |
17 | g.44254637T>C | CA399783456 | SLC4A1 | c.1916A>G (p.Lys639Arg) c.818A>G (p.Lys273Arg) c.1721A>G (p.Lys574Arg) c.1826A>G (p.Lys609Arg) | |
17 | g.44254637T>G | CA399783459 | SLC4A1 | c.1916A>C (p.Lys639Thr) c.818A>C (p.Lys273Thr) c.1721A>C (p.Lys574Thr) c.1826A>C (p.Lys609Thr) | |
17 | g.44254638del | CA2697559956 | SLC4A1 | c.1916del (p.Lys639ArgfsTer25) c.818del (p.Lys273ArgfsTer25) c.1721del (p.Lys574ArgfsTer25) c.1826del (p.Lys609ArgfsTer25) | ClinVar |
17 | g.44254638T>A | CA399783463 | SLC4A1 | c.1915A>T (p.Lys639Ter) c.817A>T (p.Lys273Ter) c.1720A>T (p.Lys574Ter) c.1825A>T (p.Lys609Ter) | ClinVar |
17 | g.44254638T>C | CA399783465 | SLC4A1 | c.1915A>G (p.Lys639Glu) c.817A>G (p.Lys273Glu) c.1720A>G (p.Lys574Glu) c.1825A>G (p.Lys609Glu) | |
17 | g.44254638T>G | CA399783467 | SLC4A1 | c.1915A>C (p.Lys639Gln) c.817A>C (p.Lys273Gln) c.1720A>C (p.Lys574Gln) c.1825A>C (p.Lys609Gln) | |
17 | g.44254639G>A | CA500285826 | SLC4A1 | c.1914C>T (p.Phe638=) c.816C>T (p.Phe272=) c.1719C>T (p.Phe573=) c.1824C>T (p.Phe608=) | |
17 | g.44254639G>C | CA399783470 | SLC4A1 | c.1914C>G (p.Phe638Leu) c.816C>G (p.Phe272Leu) c.1719C>G (p.Phe573Leu) c.1824C>G (p.Phe608Leu) | |
17 | g.44254639G>T | CA399783472 | SLC4A1 | c.1914C>A (p.Phe638Leu) c.816C>A (p.Phe272Leu) c.1719C>A (p.Phe573Leu) c.1824C>A (p.Phe608Leu) | |
17 | g.44254640A>C | CA399783482 | SLC4A1 | c.1913T>G (p.Phe638Cys) c.815T>G (p.Phe272Cys) c.1718T>G (p.Phe573Cys) c.1823T>G (p.Phe608Cys) | |
17 | g.44254640A>G | CA399783479 | SLC4A1 | c.1913T>C (p.Phe638Ser) c.815T>C (p.Phe272Ser) c.1718T>C (p.Phe573Ser) c.1823T>C (p.Phe608Ser) | |
17 | g.44254640A>T | CA399783476 | SLC4A1 | c.1913T>A (p.Phe638Tyr) c.815T>A (p.Phe272Tyr) c.1718T>A (p.Phe573Tyr) c.1823T>A (p.Phe608Tyr) | |
17 | g.44254641A>C | CA399783484 | SLC4A1 | c.1912T>G (p.Phe638Val) c.814T>G (p.Phe272Val) c.1717T>G (p.Phe573Val) c.1822T>G (p.Phe608Val) | |
17 | g.44254641A>G | CA399783487 | SLC4A1 | c.1912T>C (p.Phe638Leu) c.814T>C (p.Phe272Leu) c.1717T>C (p.Phe573Leu) c.1822T>C (p.Phe608Leu) | gnomAD v4 |
17 | g.44254641A>T | CA399783491 | SLC4A1 | c.1912T>A (p.Phe638Ile) c.814T>A (p.Phe272Ile) c.1717T>A (p.Phe573Ile) c.1822T>A (p.Phe608Ile) | |
17 | g.44254642G>A | CA500285838 | SLC4A1 | c.1911C>T (p.Gly637=) c.813C>T (p.Gly271=) c.1716C>T (p.Gly572=) c.1821C>T (p.Gly607=) | |
17 | g.44254642G>C | CA500285840 | SLC4A1 | c.1911C>G (p.Gly637=) c.813C>G (p.Gly271=) c.1716C>G (p.Gly572=) c.1821C>G (p.Gly607=) | |
17 | g.44254642G>T | CA500285842 | SLC4A1 | c.1911C>A (p.Gly637=) c.813C>A (p.Gly271=) c.1716C>A (p.Gly572=) c.1821C>A (p.Gly607=) | |
17 | g.44254643C>A | CA399783495 | SLC4A1 | c.1910G>T (p.Gly637Val) c.812G>T (p.Gly271Val) c.1715G>T (p.Gly572Val) c.1820G>T (p.Gly607Val) | |
17 | g.44254643C= | CA2261308297 | SLC4A1 | c.1910G= (p.Gly637=) c.812G= (p.Gly271=) c.1715G= (p.Gly572=) c.1820G= (p.Gly607=) | |
17 | g.44254643C>G | CA399783498 | SLC4A1 | c.1910G>C (p.Gly637Ala) c.812G>C (p.Gly271Ala) c.1715G>C (p.Gly572Ala) c.1820G>C (p.Gly607Ala) | |
17 | g.44254643C>T | CA290928598 | SLC4A1 | c.1910G>A (p.Gly637Asp) c.812G>A (p.Gly271Asp) c.1715G>A (p.Gly572Asp) c.1820G>A (p.Gly607Asp) | dbSNP |
17 | g.44254644del | CA2841627422 | SLC4A1 | c.1910del (p.Gly637AlafsTer27) c.812del (p.Gly271AlafsTer27) c.1715del (p.Gly572AlafsTer27) c.1820del (p.Gly607AlafsTer27) | |
17 | g.44254644C>A | CA399783504 | SLC4A1 | c.1909G>T (p.Gly637Cys) c.811G>T (p.Gly271Cys) c.1714G>T (p.Gly572Cys) c.1819G>T (p.Gly607Cys) | |
17 | g.44254644C>G | CA399783512 | SLC4A1 | c.1909G>C (p.Gly637Arg) c.811G>C (p.Gly271Arg) c.1714G>C (p.Gly572Arg) c.1819G>C (p.Gly607Arg) | |
17 | g.44254644C>T | CA399783510 | SLC4A1 | c.1909G>A (p.Gly637Ser) c.811G>A (p.Gly271Ser) c.1714G>A (p.Gly572Ser) c.1819G>A (p.Gly607Ser) | |
17 | g.44254645A>C | CA399783513 | SLC4A1 | c.1908T>G (p.Asp636Glu) c.810T>G (p.Asp270Glu) c.1713T>G (p.Asp571Glu) c.1818T>G (p.Asp606Glu) | |
17 | g.44254645A>G | CA500285851 | SLC4A1 | c.1908T>C (p.Asp636=) c.810T>C (p.Asp270=) c.1713T>C (p.Asp571=) c.1818T>C (p.Asp606=) | gnomAD v4 |
17 | g.44254645A>T | CA399783516 | SLC4A1 | c.1908T>A (p.Asp636Glu) c.810T>A (p.Asp270Glu) c.1713T>A (p.Asp571Glu) c.1818T>A (p.Asp606Glu) | |
17 | g.44254646T>A | CA399783518 | SLC4A1 | c.1907A>T (p.Asp636Val) c.809A>T (p.Asp270Val) c.1712A>T (p.Asp571Val) c.1817A>T (p.Asp606Val) | |
17 | g.44254646T>C | CA399783520 | SLC4A1 | c.1907A>G (p.Asp636Gly) c.809A>G (p.Asp270Gly) c.1712A>G (p.Asp571Gly) c.1817A>G (p.Asp606Gly) | |
17 | g.44254646T>G | CA399783523 | SLC4A1 | c.1907A>C (p.Asp636Ala) c.809A>C (p.Asp270Ala) c.1712A>C (p.Asp571Ala) c.1817A>C (p.Asp606Ala) | |
17 | g.44254647C>A | CA399783532 | SLC4A1 | c.1906G>T (p.Asp636Tyr) c.808G>T (p.Asp270Tyr) c.1711G>T (p.Asp571Tyr) c.1816G>T (p.Asp606Tyr) | |
17 | g.44254647C= | CA2261308298 | SLC4A1 | c.1906G= (p.Asp636=) c.808G= (p.Asp270=) c.1711G= (p.Asp571=) c.1816G= (p.Asp606=) | |
17 | g.44254647C>G | CA399783529 | SLC4A1 | c.1906G>C (p.Asp636His) c.808G>C (p.Asp270His) c.1711G>C (p.Asp571His) c.1816G>C (p.Asp606His) | |
17 | g.44254647C>T | CA399783528 | SLC4A1 | c.1906G>A (p.Asp636Asn) c.808G>A (p.Asp270Asn) c.1711G>A (p.Asp571Asn) c.1816G>A (p.Asp606Asn) | |
17 | g.44254647_44254648insCTCCTGCCCTTGGCATTCTTACCTGCT | CA2261308300 | SLC4A1 | c.1905_1906insAGCAGGTAAGAATGCCAAGGGCAGGAG c.807_808insAGCAGGTAAGAATGCCAAGGGCAGGAG c.1710_1711insAGCAGGTAAGAATGCCAAGGGCAGGAG c.1815_1816insAGCAGGTAAGAATGCCAAGGGCAGGAG | dbSNP |
17 | g.44254648A= | CA2261308299 | SLC4A1 | c.1905T= (p.Pro635=) c.807T= (p.Pro269=) c.1710T= (p.Pro570=) c.1815T= (p.Pro605=) | |
17 | g.44254648A>C | CA500285862 | SLC4A1 | c.1905T>G (p.Pro635=) c.807T>G (p.Pro269=) c.1710T>G (p.Pro570=) c.1815T>G (p.Pro605=) | |
17 | g.44254648A>G | CA500285863 | SLC4A1 | c.1905T>C (p.Pro635=) c.807T>C (p.Pro269=) c.1710T>C (p.Pro570=) c.1815T>C (p.Pro605=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254648A>T | CA500285865 | SLC4A1 | c.1905T>A (p.Pro635=) c.807T>A (p.Pro269=) c.1710T>A (p.Pro570=) c.1815T>A (p.Pro605=) | |
17 | g.44254649G>A | CA399783538 | SLC4A1 | c.1904C>T (p.Pro635Leu) c.806C>T (p.Pro269Leu) c.1709C>T (p.Pro570Leu) c.1814C>T (p.Pro605Leu) | |
17 | g.44254649G>C | CA399783539 | SLC4A1 | c.1904C>G (p.Pro635Arg) c.806C>G (p.Pro269Arg) c.1709C>G (p.Pro570Arg) c.1814C>G (p.Pro605Arg) | |
17 | g.44254649G>T | CA399783543 | SLC4A1 | c.1904C>A (p.Pro635His) c.806C>A (p.Pro269His) c.1709C>A (p.Pro570His) c.1814C>A (p.Pro605His) | |
17 | g.44254650G>A | CA399783550 | SLC4A1 | c.1903C>T (p.Pro635Ser) c.805C>T (p.Pro269Ser) c.1708C>T (p.Pro570Ser) c.1813C>T (p.Pro605Ser) | COSMIC |
17 | g.44254650G>C | CA399783552 | SLC4A1 | c.1903C>G (p.Pro635Ala) c.805C>G (p.Pro269Ala) c.1708C>G (p.Pro570Ala) c.1813C>G (p.Pro605Ala) | |
17 | g.44254650G>T | CA399783554 | SLC4A1 | c.1903C>A (p.Pro635Thr) c.805C>A (p.Pro269Thr) c.1708C>A (p.Pro570Thr) c.1813C>A (p.Pro605Thr) | |
17 | g.44254651C>A | CA500285874 | SLC4A1 | c.1902G>T (p.Val634=) c.804G>T (p.Val268=) c.1707G>T (p.Val569=) c.1812G>T (p.Val604=) | |
17 | g.44254651C>G | CA500285876 | SLC4A1 | c.1902G>C (p.Val634=) c.804G>C (p.Val268=) c.1707G>C (p.Val569=) c.1812G>C (p.Val604=) | |
17 | g.44254651C>T | CA500285877 | SLC4A1 | c.1902G>A (p.Val634=) c.804G>A (p.Val268=) c.1707G>A (p.Val569=) c.1812G>A (p.Val604=) | |
17 | g.44254652A= | CA2261308301 | SLC4A1 | c.1901T= (p.Val634=) c.803T= (p.Val268=) c.1706T= (p.Val569=) c.1811T= (p.Val604=) | |
17 | g.44254652A>C | CA399783559 | SLC4A1 | c.1901T>G (p.Val634Gly) c.803T>G (p.Val268Gly) c.1706T>G (p.Val569Gly) c.1811T>G (p.Val604Gly) | |
17 | g.44254652A>G | CA399783565 | SLC4A1 | c.1901T>C (p.Val634Ala) c.803T>C (p.Val268Ala) c.1706T>C (p.Val569Ala) c.1811T>C (p.Val604Ala) | dbSNP gnomAD v4 |
17 | g.44254652A>T | CA399783560 | SLC4A1 | c.1901T>A (p.Val634Glu) c.803T>A (p.Val268Glu) c.1706T>A (p.Val569Glu) c.1811T>A (p.Val604Glu) | |
17 | g.44254652_44254653insTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCAT | CA2809585967 | SLC4A1 | c.1900_1901insATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTGGAGTCTCAGATCACCACGTGAGA (p.Val634AspfsTer56) c.802_803insATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTGGAGTCTCAGATCACCACGTGAGA (p.Val268AspfsTer56) c.1705_1706insATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTGGAGTCTCAGATCACCACGTGAGA (p.Val569AspfsTer56) c.1810_1811insATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTGGAGTCTCAGATCACCACGTGAGA (p.Val604AspfsTer56) | |
17 | g.44254653C>A | CA399783568 | SLC4A1 | c.1900G>T (p.Val634Leu) c.802G>T (p.Val268Leu) c.1705G>T (p.Val569Leu) c.1810G>T (p.Val604Leu) | dbSNP gnomAD v2 |
17 | g.44254653C= | CA2261308302 | SLC4A1 | c.1900G= (p.Val634=) c.802G= (p.Val268=) c.1705G= (p.Val569=) c.1810G= (p.Val604=) | |
17 | g.44254653C>G | CA399783570 | SLC4A1 | c.1900G>C (p.Val634Leu) c.802G>C (p.Val268Leu) c.1705G>C (p.Val569Leu) c.1810G>C (p.Val604Leu) | |
17 | g.44254653C>T | CA399783573 | SLC4A1 | c.1900G>A (p.Val634Met) c.802G>A (p.Val268Met) c.1705G>A (p.Val569Met) c.1810G>A (p.Val604Met) | |
17 | g.44254654C>A | CA8600168 | SLC4A1 | c.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 |
17 | g.44254654C= | CA2261308303 | SLC4A1 | c.1899G= (p.Ser633=) c.801G= (p.Ser267=) c.1704G= (p.Ser568=) c.1809G= (p.Ser603=) | |
17 | g.44254654C>G | CA500285879 | SLC4A1 | c.1899G>C (p.Ser633=) c.801G>C (p.Ser267=) c.1704G>C (p.Ser568=) c.1809G>C (p.Ser603=) | gnomAD v4 |
17 | g.44254654C>T | CA8600167 | SLC4A1 | c.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 |
17 | g.44254655G>A | CA8600169 | SLC4A1 | c.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 |
17 | g.44254655G>C | CA399783579 | SLC4A1 | c.1898C>G (p.Ser633Trp) c.800C>G (p.Ser267Trp) c.1703C>G (p.Ser568Trp) c.1808C>G (p.Ser603Trp) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254655G= | CA2261308304 | SLC4A1 | c.1898C= (p.Ser633=) c.800C= (p.Ser267=) c.1703C= (p.Ser568=) c.1808C= (p.Ser603=) | |
17 | g.44254655G>T | CA399783582 | SLC4A1 | c.1898C>A (p.Ser633Ter) c.800C>A (p.Ser267Ter) c.1703C>A (p.Ser568Ter) c.1808C>A (p.Ser603Ter) | |
17 | g.44254656A= | CA2261308305 | SLC4A1 | c.1897T= (p.Ser633=) c.799T= (p.Ser267=) c.1702T= (p.Ser568=) c.1807T= (p.Ser603=) | |
17 | g.44254656A>C | CA399783587 | SLC4A1 | c.1897T>G (p.Ser633Ala) c.799T>G (p.Ser267Ala) c.1702T>G (p.Ser568Ala) c.1807T>G (p.Ser603Ala) | |
17 | g.44254656A>G | CA290928632 | SLC4A1 | c.1897T>C (p.Ser633Pro) c.799T>C (p.Ser267Pro) c.1702T>C (p.Ser568Pro) c.1807T>C (p.Ser603Pro) | dbSNP gnomAD v2 |
17 | g.44254656A>T | CA399783589 | SLC4A1 | c.1897T>A (p.Ser633Thr) c.799T>A (p.Ser267Thr) c.1702T>A (p.Ser568Thr) c.1807T>A (p.Ser603Thr) | |
17 | g.44254657G>A | CA500285882 | SLC4A1 | c.1896C>T (p.Leu632=) c.798C>T (p.Leu266=) c.1701C>T (p.Leu567=) c.1806C>T (p.Leu602=) | |
17 | g.44254657G>C | CA500285881 | SLC4A1 | c.1896C>G (p.Leu632=) c.798C>G (p.Leu266=) c.1701C>G (p.Leu567=) c.1806C>G (p.Leu602=) | dbSNP |
17 | g.44254657G= | CA2261308306 | SLC4A1 | c.1896C= (p.Leu632=) c.798C= (p.Leu266=) c.1701C= (p.Leu567=) c.1806C= (p.Leu602=) | |
17 | g.44254657G>T | CA500285880 | SLC4A1 | c.1896C>A (p.Leu632=) c.798C>A (p.Leu266=) c.1701C>A (p.Leu567=) c.1806C>A (p.Leu602=) | |
17 | g.44254658A>C | CA399783590 | SLC4A1 | c.1895T>G (p.Leu632Arg) c.797T>G (p.Leu266Arg) c.1700T>G (p.Leu567Arg) c.1805T>G (p.Leu602Arg) | |
17 | g.44254658A>G | CA399783594 | SLC4A1 | c.1895T>C (p.Leu632Pro) c.797T>C (p.Leu266Pro) c.1700T>C (p.Leu567Pro) c.1805T>C (p.Leu602Pro) | |
17 | g.44254658A>T | CA399783591 | SLC4A1 | c.1895T>A (p.Leu632His) c.797T>A (p.Leu266His) c.1700T>A (p.Leu567His) c.1805T>A (p.Leu602His) | |
17 | g.44254659G>A | CA399783598 | SLC4A1 | c.1894C>T (p.Leu632Phe) c.796C>T (p.Leu266Phe) c.1699C>T (p.Leu567Phe) c.1804C>T (p.Leu602Phe) | |
17 | g.44254659G>C | CA399783608 | SLC4A1 | c.1894C>G (p.Leu632Val) c.796C>G (p.Leu266Val) c.1699C>G (p.Leu567Val) c.1804C>G (p.Leu602Val) | gnomAD v4 |
17 | g.44254659G>T | CA399783605 | SLC4A1 | c.1894C>A (p.Leu632Ile) c.796C>A (p.Leu266Ile) c.1699C>A (p.Leu567Ile) c.1804C>A (p.Leu602Ile) | |
17 | g.44254660T>A | CA399783612 | SLC4A1 | c.1893A>T (p.Lys631Asn) c.795A>T (p.Lys265Asn) c.1698A>T (p.Lys566Asn) c.1803A>T (p.Lys601Asn) | |
17 | g.44254660T>C | CA500285883 | SLC4A1 | c.1893A>G (p.Lys631=) c.795A>G (p.Lys265=) c.1698A>G (p.Lys566=) c.1803A>G (p.Lys601=) | |
17 | g.44254660T>G | CA399783614 | SLC4A1 | c.1893A>C (p.Lys631Asn) c.795A>C (p.Lys265Asn) c.1698A>C (p.Lys566Asn) c.1803A>C (p.Lys601Asn) | |
17 | g.44254662dup | CA2580093863 | SLC4A1 | c.1893dup (p.Leu632ThrfsTer5) c.795dup (p.Leu266ThrfsTer5) c.1698dup (p.Leu567ThrfsTer5) c.1803dup (p.Leu602ThrfsTer5) | ClinVar |
17 | g.44254661T>A | CA399783618 | SLC4A1 | c.1892A>T (p.Lys631Ile) c.794A>T (p.Lys265Ile) c.1697A>T (p.Lys566Ile) c.1802A>T (p.Lys601Ile) | |
17 | g.44254661T>C | CA399783621 | SLC4A1 | c.1892A>G (p.Lys631Arg) c.794A>G (p.Lys265Arg) c.1697A>G (p.Lys566Arg) c.1802A>G (p.Lys601Arg) | |
17 | g.44254661T>G | CA399783623 | SLC4A1 | c.1892A>C (p.Lys631Thr) c.794A>C (p.Lys265Thr) c.1697A>C (p.Lys566Thr) c.1802A>C (p.Lys601Thr) | |
17 | g.44254662T>A | CA399783626 | SLC4A1 | c.1891A>T (p.Lys631Ter) c.793A>T (p.Lys265Ter) c.1696A>T (p.Lys566Ter) c.1801A>T (p.Lys601Ter) | |
17 | g.44254662T>C | CA399783628 | SLC4A1 | c.1891A>G (p.Lys631Glu) c.793A>G (p.Lys265Glu) c.1696A>G (p.Lys566Glu) c.1801A>G (p.Lys601Glu) | |
17 | g.44254662T>G | CA399783631 | SLC4A1 | c.1891A>C (p.Lys631Gln) c.793A>C (p.Lys265Gln) c.1696A>C (p.Lys566Gln) c.1801A>C (p.Lys601Gln) | |
17 | g.44254663C>A | CA399783636 | SLC4A1 | c.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) | |
17 | g.44254663C>G | CA399783638 | SLC4A1 | c.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) | |
17 | g.44254663C>T | CA399783641 | SLC4A1 | c.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 |
17 | g.44254664T>A | CA399783647 | SLC4A1 | c.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) | |
17 | g.44254664T>C | CA399783651 | SLC4A1 | c.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 |
17 | g.44254664T>G | CA399783654 | SLC4A1 | c.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) | |
17 | g.44254667G>A | CA2638191308 | SLC4A1 | c.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 |
17 | g.44254667G>T | CA2839328525 | SLC4A1 | c.1891-5C>A (n.1891-5C>A) c.793-5C>A (n.793-5C>A) c.1696-5C>A (n.1696-5C>A) c.1801-5C>A (n.1801-5C>A) | |
17 | g.44254668G>A | CA645593068 | SLC4A1 | c.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 |
17 | g.44254669G>A | CA8600170 | SLC4A1 | c.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 |
17 | g.44254669G= | CA2261308307 | SLC4A1 | c.1891-7C= (n.1891-7C=) c.793-7C= (n.793-7C=) c.1696-7C= (n.1696-7C=) c.1801-7C= (n.1801-7C=) | |
17 | g.44254670A= | CA2261308308 | SLC4A1 | c.1891-8T= (n.1891-8T=) c.793-8T= (n.793-8T=) c.1696-8T= (n.1696-8T=) c.1801-8T= (n.1801-8T=) | |
17 | g.44254670A>C | CA8600171 | SLC4A1 | c.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 |
17 | g.44254671G>A | CA8600172 | SLC4A1 | c.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 |
17 | g.44254671G>C | CA772279139 | SLC4A1 | c.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 |
17 | g.44254671G= | CA2261308310 | SLC4A1 | c.1891-9C= (n.1891-9C=) c.793-9C= (n.793-9C=) c.1696-9C= (n.1696-9C=) c.1801-9C= (n.1801-9C=) | |
17 | g.44254671G>T | CA2841627423 | SLC4A1 | c.1891-9C>A (n.1891-9C>A) c.793-9C>A (n.793-9C>A) c.1696-9C>A (n.1696-9C>A) c.1801-9C>A (n.1801-9C>A) | |
17 | g.44254675dup | CA2261308309 | SLC4A1 | c.1891-9dup (n.1891-9dup) c.793-9dup (n.793-9dup) c.1696-9dup (n.1696-9dup) c.1801-9dup (n.1801-9dup) | dbSNP |
17 | g.44254672G>A | CA8600174 | SLC4A1 | c.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 |
17 | g.44254672G>C | CA8600173 | SLC4A1 | c.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 |
17 | g.44254672G= | CA2261308311 | SLC4A1 | c.1891-10C= (n.1891-10C=) c.793-10C= (n.793-10C=) c.1696-10C= (n.1696-10C=) c.1801-10C= (n.1801-10C=) | |
17 | g.44254672G>T | CA2638191309 | SLC4A1 | c.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 |
17 | g.44254674G>C | CA2638191310 | SLC4A1 | c.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 |
17 | g.44254674G>T | CA2638191311 | SLC4A1 | c.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 |
17 | g.44254675G>A | CA2638191312 | SLC4A1 | c.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 |
17 | g.44254675G>C | CA2638191313 | SLC4A1 | c.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 |
17 | g.44254676T>C | CA984004679 | SLC4A1 | c.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 |
17 | g.44254676T>G | CA984004680 | SLC4A1 | c.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 |
17 | g.44254676T= | CA2261308312 | SLC4A1 | c.1891-14A= (n.1891-14A=) c.793-14A= (n.793-14A=) c.1696-14A= (n.1696-14A=) c.1801-14A= (n.1801-14A=) |