Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44254499del | CA2638191306 | SLC4A1 | c.2055del (p.Thr686ArgfsTer2) c.957del (p.Thr320ArgfsTer2) c.1860del (p.Thr621ArgfsTer2) c.1965del (p.Thr656ArgfsTer2) c.2055del (p.Thr686LeufsTer?) | gnomAD v4 |
17 | g.44254499G>A | CA399782532 | SLC4A1 | c.2054C>T (p.Thr685Ile) c.956C>T (p.Thr319Ile) c.1859C>T (p.Thr620Ile) c.1964C>T (p.Thr655Ile) | |
17 | g.44254499G>C | CA399782533 | SLC4A1 | c.2054C>G (p.Thr685Ser) c.956C>G (p.Thr319Ser) c.1859C>G (p.Thr620Ser) c.1964C>G (p.Thr655Ser) | |
17 | g.44254499G>T | CA399782535 | SLC4A1 | c.2054C>A (p.Thr685Asn) c.956C>A (p.Thr319Asn) c.1859C>A (p.Thr620Asn) c.1964C>A (p.Thr655Asn) | |
17 | g.44254500T>A | CA399782540 | SLC4A1 | c.2053A>T (p.Thr685Ser) c.955A>T (p.Thr319Ser) c.1858A>T (p.Thr620Ser) c.1963A>T (p.Thr655Ser) | |
17 | g.44254500T>C | CA8600144 | SLC4A1 | c.2053A>G (p.Thr685Ala) c.955A>G (p.Thr319Ala) c.1858A>G (p.Thr620Ala) c.1963A>G (p.Thr655Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44254500T>G | CA399782537 | SLC4A1 | c.2053A>C (p.Thr685Pro) c.955A>C (p.Thr319Pro) c.1858A>C (p.Thr620Pro) c.1963A>C (p.Thr655Pro) | gnomAD v4 |
17 | g.44254500T= | CA2261308252 | SLC4A1 | c.2053A= (p.Thr685=) c.955A= (p.Thr319=) c.1858A= (p.Thr620=) c.1963A= (p.Thr655=) | |
17 | g.44254501G>A | CA500285291 | SLC4A1 | c.2052C>T (p.Ile684=) c.954C>T (p.Ile318=) c.1857C>T (p.Ile619=) c.1962C>T (p.Ile654=) | gnomAD v4 |
17 | g.44254501G>C | CA399782543 | SLC4A1 | c.2052C>G (p.Ile684Met) c.954C>G (p.Ile318Met) c.1857C>G (p.Ile619Met) c.1962C>G (p.Ile654Met) | |
17 | g.44254501G= | CA2261308253 | SLC4A1 | c.2052C= (p.Ile684=) c.954C= (p.Ile318=) c.1857C= (p.Ile619=) c.1962C= (p.Ile654=) | |
17 | g.44254501G>T | CA500285290 | SLC4A1 | c.2052C>A (p.Ile684=) c.954C>A (p.Ile318=) c.1857C>A (p.Ile619=) c.1962C>A (p.Ile654=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254502A>C | CA399782545 | SLC4A1 | c.2051T>G (p.Ile684Ser) c.953T>G (p.Ile318Ser) c.1856T>G (p.Ile619Ser) c.1961T>G (p.Ile654Ser) | |
17 | g.44254502A>G | CA399782547 | SLC4A1 | c.2051T>C (p.Ile684Thr) c.953T>C (p.Ile318Thr) c.1856T>C (p.Ile619Thr) c.1961T>C (p.Ile654Thr) | |
17 | g.44254502A>T | CA399782549 | SLC4A1 | c.2051T>A (p.Ile684Asn) c.953T>A (p.Ile318Asn) c.1856T>A (p.Ile619Asn) c.1961T>A (p.Ile654Asn) | gnomAD v4 |
17 | g.44254503T>A | CA399782551 | SLC4A1 | c.2050A>T (p.Ile684Phe) c.952A>T (p.Ile318Phe) c.1855A>T (p.Ile619Phe) c.1960A>T (p.Ile654Phe) | |
17 | g.44254503T>C | CA399782553 | SLC4A1 | c.2050A>G (p.Ile684Val) c.952A>G (p.Ile318Val) c.1855A>G (p.Ile619Val) c.1960A>G (p.Ile654Val) | |
17 | g.44254503T>G | CA399782555 | SLC4A1 | c.2050A>C (p.Ile684Leu) c.952A>C (p.Ile318Leu) c.1855A>C (p.Ile619Leu) c.1960A>C (p.Ile654Leu) | |
17 | g.44254504C>A | CA399782557 | SLC4A1 | c.2049G>T (p.Gln683His) c.951G>T (p.Gln317His) c.1854G>T (p.Gln618His) c.1959G>T (p.Gln653His) | gnomAD v4 |
17 | g.44254504C>G | CA399782559 | SLC4A1 | c.2049G>C (p.Gln683His) c.951G>C (p.Gln317His) c.1854G>C (p.Gln618His) c.1959G>C (p.Gln653His) | |
17 | g.44254504C>T | CA500285298 | SLC4A1 | c.2049G>A (p.Gln683=) c.951G>A (p.Gln317=) c.1854G>A (p.Gln618=) c.1959G>A (p.Gln653=) | |
17 | g.44254505T>A | CA399782561 | SLC4A1 | c.2048A>T (p.Gln683Leu) c.950A>T (p.Gln317Leu) c.1853A>T (p.Gln618Leu) c.1958A>T (p.Gln653Leu) | gnomAD v4 |
17 | g.44254505T>C | CA399782563 | SLC4A1 | c.2048A>G (p.Gln683Arg) c.950A>G (p.Gln317Arg) c.1853A>G (p.Gln618Arg) c.1958A>G (p.Gln653Arg) | |
17 | g.44254505T>G | CA399782565 | SLC4A1 | c.2048A>C (p.Gln683Pro) c.950A>C (p.Gln317Pro) c.1853A>C (p.Gln618Pro) c.1958A>C (p.Gln653Pro) | |
17 | g.44254506G>A | CA399782570 | SLC4A1 | c.2047C>T (p.Gln683Ter) c.949C>T (p.Gln317Ter) c.1852C>T (p.Gln618Ter) c.1957C>T (p.Gln653Ter) | |
17 | g.44254506G>C | CA399782571 | SLC4A1 | c.2047C>G (p.Gln683Glu) c.949C>G (p.Gln317Glu) c.1852C>G (p.Gln618Glu) c.1957C>G (p.Gln653Glu) | |
17 | g.44254506G>T | CA399782568 | SLC4A1 | c.2047C>A (p.Gln683Lys) c.949C>A (p.Gln317Lys) c.1852C>A (p.Gln618Lys) c.1957C>A (p.Gln653Lys) | gnomAD v4 |
17 | g.44254507A>C | CA500285305 | SLC4A1 | c.2046T>G (p.Ser682=) c.948T>G (p.Ser316=) c.1851T>G (p.Ser617=) c.1956T>G (p.Ser652=) | |
17 | g.44254507A>G | CA500285307 | SLC4A1 | c.2046T>C (p.Ser682=) c.948T>C (p.Ser316=) c.1851T>C (p.Ser617=) c.1956T>C (p.Ser652=) | |
17 | g.44254507A>T | CA500285304 | SLC4A1 | c.2046T>A (p.Ser682=) c.948T>A (p.Ser316=) c.1851T>A (p.Ser617=) c.1956T>A (p.Ser652=) | gnomAD v4 |
17 | g.44254508G>A | CA399782572 | SLC4A1 | c.2045C>T (p.Ser682Phe) c.947C>T (p.Ser316Phe) c.1850C>T (p.Ser617Phe) c.1955C>T (p.Ser652Phe) | dbSNP gnomAD v4 |
17 | g.44254508G>C | CA399782574 | SLC4A1 | c.2045C>G (p.Ser682Cys) c.947C>G (p.Ser316Cys) c.1850C>G (p.Ser617Cys) c.1955C>G (p.Ser652Cys) | |
17 | g.44254508G= | CA2261308254 | SLC4A1 | c.2045C= (p.Ser682=) c.947C= (p.Ser316=) c.1850C= (p.Ser617=) c.1955C= (p.Ser652=) | |
17 | g.44254508G>T | CA399782577 | SLC4A1 | c.2045C>A (p.Ser682Tyr) c.947C>A (p.Ser316Tyr) c.1850C>A (p.Ser617Tyr) c.1955C>A (p.Ser652Tyr) | gnomAD v4 |
17 | g.44254509A>C | CA399782581 | SLC4A1 | c.2044T>G (p.Ser682Ala) c.946T>G (p.Ser316Ala) c.1849T>G (p.Ser617Ala) c.1954T>G (p.Ser652Ala) | |
17 | g.44254509A>G | CA399782582 | SLC4A1 | c.2044T>C (p.Ser682Pro) c.946T>C (p.Ser316Pro) c.1849T>C (p.Ser617Pro) c.1954T>C (p.Ser652Pro) | gnomAD v4 |
17 | g.44254509A>T | CA399782584 | SLC4A1 | c.2044T>A (p.Ser682Thr) c.946T>A (p.Ser316Thr) c.1849T>A (p.Ser617Thr) c.1954T>A (p.Ser652Thr) | gnomAD v4 |
17 | g.44254510C>A | CA399782588 | SLC4A1 | c.2043G>T (p.Glu681Asp) c.945G>T (p.Glu315Asp) c.1848G>T (p.Glu616Asp) c.1953G>T (p.Glu651Asp) | gnomAD v4 |
17 | g.44254510C>G | CA399782587 | SLC4A1 | c.2043G>C (p.Glu681Asp) c.945G>C (p.Glu315Asp) c.1848G>C (p.Glu616Asp) c.1953G>C (p.Glu651Asp) | |
17 | g.44254510C>T | CA500285312 | SLC4A1 | c.2043G>A (p.Glu681=) c.945G>A (p.Glu315=) c.1848G>A (p.Glu616=) c.1953G>A (p.Glu651=) | gnomAD v4 |
17 | g.44254511T>A | CA399782589 | SLC4A1 | c.2042A>T (p.Glu681Val) c.944A>T (p.Glu315Val) c.1847A>T (p.Glu616Val) c.1952A>T (p.Glu651Val) | gnomAD v4 |
17 | g.44254511T>C | CA399782591 | SLC4A1 | c.2042A>G (p.Glu681Gly) c.944A>G (p.Glu315Gly) c.1847A>G (p.Glu616Gly) c.1952A>G (p.Glu651Gly) | |
17 | g.44254511T>G | CA399782593 | SLC4A1 | c.2042A>C (p.Glu681Ala) c.944A>C (p.Glu315Ala) c.1847A>C (p.Glu616Ala) c.1952A>C (p.Glu651Ala) | |
17 | g.44254512C>A | CA399782595 | SLC4A1 | c.2041G>T (p.Glu681Ter) c.943G>T (p.Glu315Ter) c.1846G>T (p.Glu616Ter) c.1951G>T (p.Glu651Ter) | gnomAD v4 |
17 | g.44254512C>G | CA399782597 | SLC4A1 | c.2041G>C (p.Glu681Gln) c.943G>C (p.Glu315Gln) c.1846G>C (p.Glu616Gln) c.1951G>C (p.Glu651Gln) | |
17 | g.44254512C>T | CA399782599 | SLC4A1 | c.2041G>A (p.Glu681Lys) c.943G>A (p.Glu315Lys) c.1846G>A (p.Glu616Lys) c.1951G>A (p.Glu651Lys) | gnomAD v4 |
17 | g.44254513C>A | CA500285319 | SLC4A1 | c.2040G>T (p.Leu680=) c.942G>T (p.Leu314=) c.1845G>T (p.Leu615=) c.1950G>T (p.Leu650=) | |
17 | g.44254513C>G | CA500285318 | SLC4A1 | c.2040G>C (p.Leu680=) c.942G>C (p.Leu314=) c.1845G>C (p.Leu615=) c.1950G>C (p.Leu650=) | |
17 | g.44254513C>T | CA500285317 | SLC4A1 | c.2040G>A (p.Leu680=) c.942G>A (p.Leu314=) c.1845G>A (p.Leu615=) c.1950G>A (p.Leu650=) | |
17 | g.44254514A>C | CA399782600 | SLC4A1 | c.2039T>G (p.Leu680Arg) c.941T>G (p.Leu314Arg) c.1844T>G (p.Leu615Arg) c.1949T>G (p.Leu650Arg) | |
17 | g.44254514A>G | CA399782603 | SLC4A1 | c.2039T>C (p.Leu680Pro) c.941T>C (p.Leu314Pro) c.1844T>C (p.Leu615Pro) c.1949T>C (p.Leu650Pro) | |
17 | g.44254514A>T | CA399782602 | SLC4A1 | c.2039T>A (p.Leu680Gln) c.941T>A (p.Leu314Gln) c.1844T>A (p.Leu615Gln) c.1949T>A (p.Leu650Gln) | |
17 | g.44254515G>A | CA500285324 | SLC4A1 | c.2038C>T (p.Leu680=) c.940C>T (p.Leu314=) c.1843C>T (p.Leu615=) c.1948C>T (p.Leu650=) | |
17 | g.44254515G>C | CA399782606 | SLC4A1 | c.2038C>G (p.Leu680Val) c.940C>G (p.Leu314Val) c.1843C>G (p.Leu615Val) c.1948C>G (p.Leu650Val) | |
17 | g.44254515G>T | CA399782607 | SLC4A1 | c.2038C>A (p.Leu680Met) c.940C>A (p.Leu314Met) c.1843C>A (p.Leu615Met) c.1948C>A (p.Leu650Met) | |
17 | g.44254516G>A | CA500285325 | SLC4A1 | c.2037C>T (p.Phe679=) c.939C>T (p.Phe313=) c.1842C>T (p.Phe614=) c.1947C>T (p.Phe649=) | |
17 | g.44254516G>C | CA399782609 | SLC4A1 | c.2037C>G (p.Phe679Leu) c.939C>G (p.Phe313Leu) c.1842C>G (p.Phe614Leu) c.1947C>G (p.Phe649Leu) | |
17 | g.44254516G>T | CA399782611 | SLC4A1 | c.2037C>A (p.Phe679Leu) c.939C>A (p.Phe313Leu) c.1842C>A (p.Phe614Leu) c.1947C>A (p.Phe649Leu) | |
17 | g.44254517A= | CA2261308255 | SLC4A1 | c.2036T= (p.Phe679=) c.938T= (p.Phe313=) c.1841T= (p.Phe614=) c.1946T= (p.Phe649=) | |
17 | g.44254517A>C | CA399782614 | SLC4A1 | c.2036T>G (p.Phe679Cys) c.938T>G (p.Phe313Cys) c.1841T>G (p.Phe614Cys) c.1946T>G (p.Phe649Cys) | dbSNP gnomAD v4 |
17 | g.44254517A>G | CA399782616 | SLC4A1 | c.2036T>C (p.Phe679Ser) c.938T>C (p.Phe313Ser) c.1841T>C (p.Phe614Ser) c.1946T>C (p.Phe649Ser) | |
17 | g.44254517A>T | CA399782618 | SLC4A1 | c.2036T>A (p.Phe679Tyr) c.938T>A (p.Phe313Tyr) c.1841T>A (p.Phe614Tyr) c.1946T>A (p.Phe649Tyr) | |
17 | g.44254518A= | CA2261308256 | SLC4A1 | c.2035T= (p.Phe679=) c.937T= (p.Phe313=) c.1840T= (p.Phe614=) c.1945T= (p.Phe649=) | |
17 | g.44254518A>C | CA399782620 | SLC4A1 | c.2035T>G (p.Phe679Val) c.937T>G (p.Phe313Val) c.1840T>G (p.Phe614Val) c.1945T>G (p.Phe649Val) | |
17 | g.44254518A>G | CA8600145 | SLC4A1 | c.2035T>C (p.Phe679Leu) c.937T>C (p.Phe313Leu) c.1840T>C (p.Phe614Leu) c.1945T>C (p.Phe649Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254518A>T | CA399782624 | SLC4A1 | c.2035T>A (p.Phe679Ile) c.937T>A (p.Phe313Ile) c.1840T>A (p.Phe614Ile) c.1945T>A (p.Phe649Ile) | |
17 | g.44254519T>A | CA500285330 | SLC4A1 | c.2034A>T (p.Ile678=) c.936A>T (p.Ile312=) c.1839A>T (p.Ile613=) c.1944A>T (p.Ile648=) | |
17 | g.44254519T>C | CA399782625 | SLC4A1 | c.2034A>G (p.Ile678Met) c.936A>G (p.Ile312Met) c.1839A>G (p.Ile613Met) c.1944A>G (p.Ile648Met) | |
17 | g.44254519T>G | CA500285333 | SLC4A1 | c.2034A>C (p.Ile678=) c.936A>C (p.Ile312=) c.1839A>C (p.Ile613=) c.1944A>C (p.Ile648=) | |
17 | g.44254520A= | CA2261308257 | SLC4A1 | c.2033T= (p.Ile678=) c.935T= (p.Ile312=) c.1838T= (p.Ile613=) c.1943T= (p.Ile648=) | |
17 | g.44254520A>C | CA399782629 | SLC4A1 | c.2033T>G (p.Ile678Arg) c.935T>G (p.Ile312Arg) c.1838T>G (p.Ile613Arg) c.1943T>G (p.Ile648Arg) | |
17 | g.44254520A>G | CA399782628 | SLC4A1 | c.2033T>C (p.Ile678Thr) c.935T>C (p.Ile312Thr) c.1838T>C (p.Ile613Thr) c.1943T>C (p.Ile648Thr) | dbSNP gnomAD v4 |
17 | g.44254520A>T | CA399782627 | SLC4A1 | c.2033T>A (p.Ile678Lys) c.935T>A (p.Ile312Lys) c.1838T>A (p.Ile613Lys) c.1943T>A (p.Ile648Lys) | |
17 | g.44254521T>A | CA399782630 | SLC4A1 | c.2032A>T (p.Ile678Leu) c.934A>T (p.Ile312Leu) c.1837A>T (p.Ile613Leu) c.1942A>T (p.Ile648Leu) | |
17 | g.44254521T>C | CA399782631 | SLC4A1 | c.2032A>G (p.Ile678Val) c.934A>G (p.Ile312Val) c.1837A>G (p.Ile613Val) c.1942A>G (p.Ile648Val) | gnomAD v4 |
17 | g.44254521T>G | CA399782633 | SLC4A1 | c.2032A>C (p.Ile678Leu) c.934A>C (p.Ile312Leu) c.1837A>C (p.Ile613Leu) c.1942A>C (p.Ile648Leu) | gnomAD v4 |
17 | g.44254522G>A | CA500285338 | SLC4A1 | c.2031C>T (p.Leu677=) c.933C>T (p.Leu311=) c.1836C>T (p.Leu612=) c.1941C>T (p.Leu647=) | COSMIC |
17 | g.44254522G>C | CA500285339 | SLC4A1 | c.2031C>G (p.Leu677=) c.933C>G (p.Leu311=) c.1836C>G (p.Leu612=) c.1941C>G (p.Leu647=) | |
17 | g.44254522G>T | CA500285340 | SLC4A1 | c.2031C>A (p.Leu677=) c.933C>A (p.Leu311=) c.1836C>A (p.Leu612=) c.1941C>A (p.Leu647=) | |
17 | g.44254523A>C | CA399782634 | SLC4A1 | c.2030T>G (p.Leu677Arg) c.932T>G (p.Leu311Arg) c.1835T>G (p.Leu612Arg) c.1940T>G (p.Leu647Arg) | |
17 | g.44254523A>G | CA399782635 | SLC4A1 | c.2030T>C (p.Leu677Pro) c.932T>C (p.Leu311Pro) c.1835T>C (p.Leu612Pro) c.1940T>C (p.Leu647Pro) | |
17 | g.44254523A>T | CA399782636 | SLC4A1 | c.2030T>A (p.Leu677His) c.932T>A (p.Leu311His) c.1835T>A (p.Leu612His) c.1940T>A (p.Leu647His) | |
17 | g.44254524G>A | CA8600146 | SLC4A1 | c.2029C>T (p.Leu677Phe) c.931C>T (p.Leu311Phe) c.1834C>T (p.Leu612Phe) c.1939C>T (p.Leu647Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44254524G>C | CA399782637 | SLC4A1 | c.2029C>G (p.Leu677Val) c.931C>G (p.Leu311Val) c.1834C>G (p.Leu612Val) c.1939C>G (p.Leu647Val) | |
17 | g.44254524G= | CA2261308258 | SLC4A1 | c.2029C= (p.Leu677=) c.931C= (p.Leu311=) c.1834C= (p.Leu612=) c.1939C= (p.Leu647=) | |
17 | g.44254524G>T | CA399782638 | SLC4A1 | c.2029C>A (p.Leu677Ile) c.931C>A (p.Leu311Ile) c.1834C>A (p.Leu612Ile) c.1939C>A (p.Leu647Ile) | |
17 | g.44254525G>A | CA500285343 | SLC4A1 | c.2028C>T (p.Ile676=) c.930C>T (p.Ile310=) c.1833C>T (p.Ile611=) c.1938C>T (p.Ile646=) | |
17 | g.44254525G>C | CA399782640 | SLC4A1 | c.2028C>G (p.Ile676Met) c.930C>G (p.Ile310Met) c.1833C>G (p.Ile611Met) c.1938C>G (p.Ile646Met) | |
17 | g.44254525G>T | CA500285348 | SLC4A1 | c.2028C>A (p.Ile676=) c.930C>A (p.Ile310=) c.1833C>A (p.Ile611=) c.1938C>A (p.Ile646=) | |
17 | g.44254526A>C | CA399782641 | SLC4A1 | c.2027T>G (p.Ile676Ser) c.929T>G (p.Ile310Ser) c.1832T>G (p.Ile611Ser) c.1937T>G (p.Ile646Ser) | |
17 | g.44254526A>G | CA399782642 | SLC4A1 | c.2027T>C (p.Ile676Thr) c.929T>C (p.Ile310Thr) c.1832T>C (p.Ile611Thr) c.1937T>C (p.Ile646Thr) | |
17 | g.44254526A>T | CA399782643 | SLC4A1 | c.2027T>A (p.Ile676Asn) c.929T>A (p.Ile310Asn) c.1832T>A (p.Ile611Asn) c.1937T>A (p.Ile646Asn) | |
17 | g.44254527T>A | CA399782646 | SLC4A1 | c.2026A>T (p.Ile676Phe) c.928A>T (p.Ile310Phe) c.1831A>T (p.Ile611Phe) c.1936A>T (p.Ile646Phe) | |
17 | g.44254527T>C | CA399782645 | SLC4A1 | c.2026A>G (p.Ile676Val) c.928A>G (p.Ile310Val) c.1831A>G (p.Ile611Val) c.1936A>G (p.Ile646Val) | |
17 | g.44254527T>G | CA399782644 | SLC4A1 | c.2026A>C (p.Ile676Leu) c.928A>C (p.Ile310Leu) c.1831A>C (p.Ile611Leu) c.1936A>C (p.Ile646Leu) | |
17 | g.44254527dup | CA2697559954 | SLC4A1 | c.2026dup (p.Ile676AsnfsTer18) c.928dup (p.Ile310AsnfsTer18) c.1831dup (p.Ile611AsnfsTer18) c.1936dup (p.Ile646AsnfsTer18) c.2026dup (p.Ile676AsnfsTer?) | ClinVar |
17 | g.44254528G>A | CA500285355 | SLC4A1 | c.2025C>T (p.Phe675=) c.927C>T (p.Phe309=) c.1830C>T (p.Phe610=) c.1935C>T (p.Phe645=) | |
17 | g.44254528G>C | CA399782647 | SLC4A1 | c.2025C>G (p.Phe675Leu) c.927C>G (p.Phe309Leu) c.1830C>G (p.Phe610Leu) c.1935C>G (p.Phe645Leu) | |
17 | g.44254528G>T | CA399782648 | SLC4A1 | c.2025C>A (p.Phe675Leu) c.927C>A (p.Phe309Leu) c.1830C>A (p.Phe610Leu) c.1935C>A (p.Phe645Leu) | |
17 | g.44254529A>C | CA399782650 | SLC4A1 | c.2024T>G (p.Phe675Cys) c.926T>G (p.Phe309Cys) c.1829T>G (p.Phe610Cys) c.1934T>G (p.Phe645Cys) | |
17 | g.44254529A>G | CA399782652 | SLC4A1 | c.2024T>C (p.Phe675Ser) c.926T>C (p.Phe309Ser) c.1829T>C (p.Phe610Ser) c.1934T>C (p.Phe645Ser) | |
17 | g.44254529A>T | CA399782653 | SLC4A1 | c.2024T>A (p.Phe675Tyr) c.926T>A (p.Phe309Tyr) c.1829T>A (p.Phe610Tyr) c.1934T>A (p.Phe645Tyr) | |
17 | g.44254530A>C | CA399782654 | SLC4A1 | c.2023T>G (p.Phe675Val) c.925T>G (p.Phe309Val) c.1828T>G (p.Phe610Val) c.1933T>G (p.Phe645Val) | |
17 | g.44254530A>G | CA399782655 | SLC4A1 | c.2023T>C (p.Phe675Leu) c.925T>C (p.Phe309Leu) c.1828T>C (p.Phe610Leu) c.1933T>C (p.Phe645Leu) | |
17 | g.44254530A>T | CA399782656 | SLC4A1 | c.2023T>A (p.Phe675Ile) c.925T>A (p.Phe309Ile) c.1828T>A (p.Phe610Ile) c.1933T>A (p.Phe645Ile) | |
17 | g.44254531G>A | CA500285357 | SLC4A1 | c.2022C>T (p.Val674=) c.924C>T (p.Val308=) c.1827C>T (p.Val609=) c.1932C>T (p.Val644=) | |
17 | g.44254531G>C | CA500285359 | SLC4A1 | c.2022C>G (p.Val674=) c.924C>G (p.Val308=) c.1827C>G (p.Val609=) c.1932C>G (p.Val644=) | |
17 | g.44254531G>T | CA500285358 | SLC4A1 | c.2022C>A (p.Val674=) c.924C>A (p.Val308=) c.1827C>A (p.Val609=) c.1932C>A (p.Val644=) | |
17 | g.44254532A>C | CA399782657 | SLC4A1 | c.2021T>G (p.Val674Gly) c.923T>G (p.Val308Gly) c.1826T>G (p.Val609Gly) c.1931T>G (p.Val644Gly) | |
17 | g.44254532A>G | CA399782658 | SLC4A1 | c.2021T>C (p.Val674Ala) c.923T>C (p.Val308Ala) c.1826T>C (p.Val609Ala) c.1931T>C (p.Val644Ala) | |
17 | g.44254532A>T | CA399782659 | SLC4A1 | c.2021T>A (p.Val674Asp) c.923T>A (p.Val308Asp) c.1826T>A (p.Val609Asp) c.1931T>A (p.Val644Asp) | |
17 | g.44254533C>A | CA399782660 | SLC4A1 | c.2020G>T (p.Val674Phe) c.922G>T (p.Val308Phe) c.1825G>T (p.Val609Phe) c.1930G>T (p.Val644Phe) | |
17 | g.44254533C= | CA2261308259 | SLC4A1 | c.2020G= (p.Val674=) c.922G= (p.Val308=) c.1825G= (p.Val609=) c.1930G= (p.Val644=) | |
17 | g.44254533C>G | CA399782661 | SLC4A1 | c.2020G>C (p.Val674Leu) c.922G>C (p.Val308Leu) c.1825G>C (p.Val609Leu) c.1930G>C (p.Val644Leu) | |
17 | g.44254533C>T | CA8600147 | SLC4A1 | c.2020G>A (p.Val674Ile) c.922G>A (p.Val308Ile) c.1825G>A (p.Val609Ile) c.1930G>A (p.Val644Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254534C>A | CA500285363 | SLC4A1 | c.2019G>T (p.Leu673=) c.921G>T (p.Leu307=) c.1824G>T (p.Leu608=) c.1929G>T (p.Leu643=) | |
17 | g.44254534C= | CA2261308260 | SLC4A1 | c.2019G= (p.Leu673=) c.921G= (p.Leu307=) c.1824G= (p.Leu608=) c.1929G= (p.Leu643=) | |
17 | g.44254534C>G | CA500285364 | SLC4A1 | c.2019G>C (p.Leu673=) c.921G>C (p.Leu307=) c.1824G>C (p.Leu608=) c.1929G>C (p.Leu643=) | |
17 | g.44254534C>T | CA500285365 | SLC4A1 | c.2019G>A (p.Leu673=) c.921G>A (p.Leu307=) c.1824G>A (p.Leu608=) c.1929G>A (p.Leu643=) | ClinVar dbSNP gnomAD v4 |
17 | g.44254535A>C | CA399782664 | SLC4A1 | c.2018T>G (p.Leu673Arg) c.920T>G (p.Leu307Arg) c.1823T>G (p.Leu608Arg) c.1928T>G (p.Leu643Arg) | |
17 | g.44254535A>G | CA399782665 | SLC4A1 | c.2018T>C (p.Leu673Pro) c.920T>C (p.Leu307Pro) c.1823T>C (p.Leu608Pro) c.1928T>C (p.Leu643Pro) | ClinVar dbSNP |
17 | g.44254535A>T | CA399782662 | SLC4A1 | c.2018T>A (p.Leu673Gln) c.920T>A (p.Leu307Gln) c.1823T>A (p.Leu608Gln) c.1928T>A (p.Leu643Gln) | |
17 | g.44254536G>A | CA500285368 | SLC4A1 | c.2017C>T (p.Leu673=) c.919C>T (p.Leu307=) c.1822C>T (p.Leu608=) c.1927C>T (p.Leu643=) | gnomAD v4 COSMIC |
17 | g.44254536G>C | CA399782666 | SLC4A1 | c.2017C>G (p.Leu673Val) c.919C>G (p.Leu307Val) c.1822C>G (p.Leu608Val) c.1927C>G (p.Leu643Val) | |
17 | g.44254536G>T | CA399782667 | SLC4A1 | c.2017C>A (p.Leu673Met) c.919C>A (p.Leu307Met) c.1822C>A (p.Leu608Met) c.1927C>A (p.Leu643Met) | |
17 | g.44254537C>A | CA500285369 | SLC4A1 | c.2016G>T (p.Leu672=) c.918G>T (p.Leu306=) c.1821G>T (p.Leu607=) c.1926G>T (p.Leu642=) | |
17 | g.44254537C>G | CA500285372 | SLC4A1 | c.2016G>C (p.Leu672=) c.918G>C (p.Leu306=) c.1821G>C (p.Leu607=) c.1926G>C (p.Leu642=) | |
17 | g.44254537C>T | CA500285370 | SLC4A1 | c.2016G>A (p.Leu672=) c.918G>A (p.Leu306=) c.1821G>A (p.Leu607=) c.1926G>A (p.Leu642=) | gnomAD v4 |
17 | g.44254538A>C | CA399782668 | SLC4A1 | c.2015T>G (p.Leu672Arg) c.917T>G (p.Leu306Arg) c.1820T>G (p.Leu607Arg) c.1925T>G (p.Leu642Arg) | |
17 | g.44254538A>G | CA399782669 | SLC4A1 | c.2015T>C (p.Leu672Pro) c.917T>C (p.Leu306Pro) c.1820T>C (p.Leu607Pro) c.1925T>C (p.Leu642Pro) | |
17 | g.44254538A>T | CA399782670 | SLC4A1 | c.2015T>A (p.Leu672Gln) c.917T>A (p.Leu306Gln) c.1820T>A (p.Leu607Gln) c.1925T>A (p.Leu642Gln) | |
17 | g.44254539G>A | CA500285375 | SLC4A1 | c.2014C>T (p.Leu672=) c.916C>T (p.Leu306=) c.1819C>T (p.Leu607=) c.1924C>T (p.Leu642=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254539G>C | CA399782671 | SLC4A1 | c.2014C>G (p.Leu672Val) c.916C>G (p.Leu306Val) c.1819C>G (p.Leu607Val) c.1924C>G (p.Leu642Val) | |
17 | g.44254539G= | CA2261308261 | SLC4A1 | c.2014C= (p.Leu672=) c.916C= (p.Leu306=) c.1819C= (p.Leu607=) c.1924C= (p.Leu642=) | |
17 | g.44254539G>T | CA399782673 | SLC4A1 | c.2014C>A (p.Leu672Met) c.916C>A (p.Leu306Met) c.1819C>A (p.Leu607Met) c.1924C>A (p.Leu642Met) | |
17 | g.44254540A>C | CA500285376 | SLC4A1 | c.2013T>G (p.Ala671=) c.915T>G (p.Ala305=) c.1818T>G (p.Ala606=) c.1923T>G (p.Ala641=) | |
17 | g.44254540A>G | CA500285377 | SLC4A1 | c.2013T>C (p.Ala671=) c.915T>C (p.Ala305=) c.1818T>C (p.Ala606=) c.1923T>C (p.Ala641=) | |
17 | g.44254540A>T | CA500285378 | SLC4A1 | c.2013T>A (p.Ala671=) c.915T>A (p.Ala305=) c.1818T>A (p.Ala606=) c.1923T>A (p.Ala641=) | gnomAD v4 |
17 | g.44254541G>A | CA399782675 | SLC4A1 | c.2012C>T (p.Ala671Val) c.914C>T (p.Ala305Val) c.1817C>T (p.Ala606Val) c.1922C>T (p.Ala641Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254541G>C | CA399782677 | SLC4A1 | c.2012C>G (p.Ala671Gly) c.914C>G (p.Ala305Gly) c.1817C>G (p.Ala606Gly) c.1922C>G (p.Ala641Gly) | |
17 | g.44254541G= | CA2261308262 | SLC4A1 | c.2012C= (p.Ala671=) c.914C= (p.Ala305=) c.1817C= (p.Ala606=) c.1922C= (p.Ala641=) | |
17 | g.44254541G>T | CA399782678 | SLC4A1 | c.2012C>A (p.Ala671Asp) c.914C>A (p.Ala305Asp) c.1817C>A (p.Ala606Asp) c.1922C>A (p.Ala641Asp) | |
17 | g.44254542C>A | CA399782681 | SLC4A1 | c.2011G>T (p.Ala671Ser) c.913G>T (p.Ala305Ser) c.1816G>T (p.Ala606Ser) c.1921G>T (p.Ala641Ser) | |
17 | g.44254542C>G | CA399782686 | SLC4A1 | c.2011G>C (p.Ala671Pro) c.913G>C (p.Ala305Pro) c.1816G>C (p.Ala606Pro) c.1921G>C (p.Ala641Pro) | ClinVar |
17 | g.44254542C>T | CA399782687 | SLC4A1 | c.2011G>A (p.Ala671Thr) c.913G>A (p.Ala305Thr) c.1816G>A (p.Ala606Thr) c.1921G>A (p.Ala641Thr) | gnomAD v4 |
17 | g.44254543A>C | CA500285379 | SLC4A1 | c.2010T>G (p.Pro670=) c.912T>G (p.Pro304=) c.1815T>G (p.Pro605=) c.1920T>G (p.Pro640=) | |
17 | g.44254543A>G | CA500285380 | SLC4A1 | c.2010T>C (p.Pro670=) c.912T>C (p.Pro304=) c.1815T>C (p.Pro605=) c.1920T>C (p.Pro640=) | |
17 | g.44254543A>T | CA500285381 | SLC4A1 | c.2010T>A (p.Pro670=) c.912T>A (p.Pro304=) c.1815T>A (p.Pro605=) c.1920T>A (p.Pro640=) | |
17 | g.44254544G>A | CA399782690 | SLC4A1 | c.2009C>T (p.Pro670Leu) c.911C>T (p.Pro304Leu) c.1814C>T (p.Pro605Leu) c.1919C>T (p.Pro640Leu) | gnomAD v4 |
17 | g.44254544G>C | CA399782688 | SLC4A1 | c.2009C>G (p.Pro670Arg) c.911C>G (p.Pro304Arg) c.1814C>G (p.Pro605Arg) c.1919C>G (p.Pro640Arg) | ClinVar |
17 | g.44254544G>T | CA399782689 | SLC4A1 | c.2009C>A (p.Pro670His) c.911C>A (p.Pro304His) c.1814C>A (p.Pro605His) c.1919C>A (p.Pro640His) | |
17 | g.44254545G>A | CA399782691 | SLC4A1 | c.2008C>T (p.Pro670Ser) c.910C>T (p.Pro304Ser) c.1813C>T (p.Pro605Ser) c.1918C>T (p.Pro640Ser) | |
17 | g.44254545G>C | CA290928466 | SLC4A1 | c.2008C>G (p.Pro670Ala) c.910C>G (p.Pro304Ala) c.1813C>G (p.Pro605Ala) c.1918C>G (p.Pro640Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254545G= | CA2261308263 | SLC4A1 | c.2008C= (p.Pro670=) c.910C= (p.Pro304=) c.1813C= (p.Pro605=) c.1918C= (p.Pro640=) | |
17 | g.44254545G>T | CA399782692 | SLC4A1 | c.2008C>A (p.Pro670Thr) c.910C>A (p.Pro304Thr) c.1813C>A (p.Pro605Thr) c.1918C>A (p.Pro640Thr) | |
17 | g.44254546C>A | CA500285384 | SLC4A1 | c.2007G>T (p.Leu669=) c.909G>T (p.Leu303=) c.1812G>T (p.Leu604=) c.1917G>T (p.Leu639=) | |
17 | g.44254546C>G | CA500285382 | SLC4A1 | c.2007G>C (p.Leu669=) c.909G>C (p.Leu303=) c.1812G>C (p.Leu604=) c.1917G>C (p.Leu639=) | |
17 | g.44254546C>T | CA500285383 | SLC4A1 | c.2007G>A (p.Leu669=) c.909G>A (p.Leu303=) c.1812G>A (p.Leu604=) c.1917G>A (p.Leu639=) | |
17 | g.44254547A>C | CA399782693 | SLC4A1 | c.2006T>G (p.Leu669Arg) c.908T>G (p.Leu303Arg) c.1811T>G (p.Leu604Arg) c.1916T>G (p.Leu639Arg) | |
17 | g.44254547A>G | CA399782695 | SLC4A1 | c.2006T>C (p.Leu669Pro) c.908T>C (p.Leu303Pro) c.1811T>C (p.Leu604Pro) c.1916T>C (p.Leu639Pro) | gnomAD v4 |
17 | g.44254547A>T | CA399782697 | SLC4A1 | c.2006T>A (p.Leu669Gln) c.908T>A (p.Leu303Gln) c.1811T>A (p.Leu604Gln) c.1916T>A (p.Leu639Gln) | |
17 | g.44254548G>A | CA500285385 | SLC4A1 | c.2005C>T (p.Leu669=) c.907C>T (p.Leu303=) c.1810C>T (p.Leu604=) c.1915C>T (p.Leu639=) | |
17 | g.44254548G>C | CA399782699 | SLC4A1 | c.2005C>G (p.Leu669Val) c.907C>G (p.Leu303Val) c.1810C>G (p.Leu604Val) c.1915C>G (p.Leu639Val) | |
17 | g.44254548G>T | CA399782701 | SLC4A1 | c.2005C>A (p.Leu669Met) c.907C>A (p.Leu303Met) c.1810C>A (p.Leu604Met) c.1915C>A (p.Leu639Met) | |
17 | g.44254549G>A | CA500285386 | SLC4A1 | c.2004C>T (p.Ala668=) c.906C>T (p.Ala302=) c.1809C>T (p.Ala603=) c.1914C>T (p.Ala638=) | |
17 | g.44254549G>C | CA500285387 | SLC4A1 | c.2004C>G (p.Ala668=) c.906C>G (p.Ala302=) c.1809C>G (p.Ala603=) c.1914C>G (p.Ala638=) | |
17 | g.44254549G>T | CA500285388 | SLC4A1 | c.2004C>A (p.Ala668=) c.906C>A (p.Ala302=) c.1809C>A (p.Ala603=) c.1914C>A (p.Ala638=) | |
17 | g.44254550G>A | CA399782702 | SLC4A1 | c.2003C>T (p.Ala668Val) c.905C>T (p.Ala302Val) c.1808C>T (p.Ala603Val) c.1913C>T (p.Ala638Val) | dbSNP gnomAD v4 |
17 | g.44254550G>C | CA399782705 | SLC4A1 | c.2003C>G (p.Ala668Gly) c.905C>G (p.Ala302Gly) c.1808C>G (p.Ala603Gly) c.1913C>G (p.Ala638Gly) | gnomAD v4 |
17 | g.44254550G= | CA2261308264 | SLC4A1 | c.2003C= (p.Ala668=) c.905C= (p.Ala302=) c.1808C= (p.Ala603=) c.1913C= (p.Ala638=) | |
17 | g.44254550G>T | CA399782708 | SLC4A1 | c.2003C>A (p.Ala668Asp) c.905C>A (p.Ala302Asp) c.1808C>A (p.Ala603Asp) c.1913C>A (p.Ala638Asp) | |
17 | g.44254551C>A | CA399782712 | SLC4A1 | c.2002G>T (p.Ala668Ser) c.904G>T (p.Ala302Ser) c.1807G>T (p.Ala603Ser) c.1912G>T (p.Ala638Ser) | ClinVar gnomAD v4 |
17 | g.44254551C= | CA2261308265 | SLC4A1 | c.2002G= (p.Ala668=) c.904G= (p.Ala302=) c.1807G= (p.Ala603=) c.1912G= (p.Ala638=) | |
17 | g.44254551C>G | CA399782727 | SLC4A1 | c.2002G>C (p.Ala668Pro) c.904G>C (p.Ala302Pro) c.1807G>C (p.Ala603Pro) c.1912G>C (p.Ala638Pro) | |
17 | g.44254551C>T | CA8600148 | SLC4A1 | c.2002G>A (p.Ala668Thr) c.904G>A (p.Ala302Thr) c.1807G>A (p.Ala603Thr) c.1912G>A (p.Ala638Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254552G>A | CA8600149 | SLC4A1 | c.2001C>T (p.Ser667=) c.903C>T (p.Ser301=) c.1806C>T (p.Ser602=) c.1911C>T (p.Ser637=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254552G>C | CA500285389 | SLC4A1 | c.2001C>G (p.Ser667=) c.903C>G (p.Ser301=) c.1806C>G (p.Ser602=) c.1911C>G (p.Ser637=) | |
17 | g.44254552G= | CA2261308266 | SLC4A1 | c.2001C= (p.Ser667=) c.903C= (p.Ser301=) c.1806C= (p.Ser602=) c.1911C= (p.Ser637=) | |
17 | g.44254552G>T | CA500285390 | SLC4A1 | c.2001C>A (p.Ser667=) c.903C>A (p.Ser301=) c.1806C>A (p.Ser602=) c.1911C>A (p.Ser637=) | gnomAD v4 |
17 | g.44254553G>A | CA399782731 | SLC4A1 | c.2000C>T (p.Ser667Phe) c.902C>T (p.Ser301Phe) c.1805C>T (p.Ser602Phe) c.1910C>T (p.Ser637Phe) | gnomAD v4 |
17 | g.44254553G>C | CA399782730 | SLC4A1 | c.2000C>G (p.Ser667Cys) c.902C>G (p.Ser301Cys) c.1805C>G (p.Ser602Cys) c.1910C>G (p.Ser637Cys) | |
17 | g.44254553G>T | CA399782732 | SLC4A1 | c.2000C>A (p.Ser667Tyr) c.902C>A (p.Ser301Tyr) c.1805C>A (p.Ser602Tyr) c.1910C>A (p.Ser637Tyr) | ClinVar |
17 | g.44254554A= | CA2261308267 | SLC4A1 | c.1999T= (p.Ser667=) c.901T= (p.Ser301=) c.1804T= (p.Ser602=) c.1909T= (p.Ser637=) | |
17 | g.44254554A>C | CA399782733 | SLC4A1 | c.1999T>G (p.Ser667Ala) c.901T>G (p.Ser301Ala) c.1804T>G (p.Ser602Ala) c.1909T>G (p.Ser637Ala) | |
17 | g.44254554A>G | CA399782734 | SLC4A1 | c.1999T>C (p.Ser667Pro) c.901T>C (p.Ser301Pro) c.1804T>C (p.Ser602Pro) c.1909T>C (p.Ser637Pro) | gnomAD v4 |
17 | g.44254554A>T | CA8600150 | SLC4A1 | c.1999T>A (p.Ser667Thr) c.901T>A (p.Ser301Thr) c.1804T>A (p.Ser602Thr) c.1909T>A (p.Ser637Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254555G>A | CA500285394 | SLC4A1 | c.1998C>T (p.Ala666=) c.900C>T (p.Ala300=) c.1803C>T (p.Ala601=) c.1908C>T (p.Ala636=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254555G>C | CA500285395 | SLC4A1 | c.1998C>G (p.Ala666=) c.900C>G (p.Ala300=) c.1803C>G (p.Ala601=) c.1908C>G (p.Ala636=) | |
17 | g.44254555G= | CA2261308268 | SLC4A1 | c.1998C= (p.Ala666=) c.900C= (p.Ala300=) c.1803C= (p.Ala601=) c.1908C= (p.Ala636=) | |
17 | g.44254555G>T | CA500285397 | SLC4A1 | c.1998C>A (p.Ala666=) c.900C>A (p.Ala300=) c.1803C>A (p.Ala601=) c.1908C>A (p.Ala636=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254556G>A | CA399782735 | SLC4A1 | c.1997C>T (p.Ala666Val) c.899C>T (p.Ala300Val) c.1802C>T (p.Ala601Val) c.1907C>T (p.Ala636Val) | |
17 | g.44254556G>C | CA399782736 | SLC4A1 | c.1997C>G (p.Ala666Gly) c.899C>G (p.Ala300Gly) c.1802C>G (p.Ala601Gly) c.1907C>G (p.Ala636Gly) | |
17 | g.44254556G>T | CA399782738 | SLC4A1 | c.1997C>A (p.Ala666Asp) c.899C>A (p.Ala300Asp) c.1802C>A (p.Ala601Asp) c.1907C>A (p.Ala636Asp) | |
17 | g.44254557C>A | CA399782743 | SLC4A1 | c.1996G>T (p.Ala666Ser) c.898G>T (p.Ala300Ser) c.1801G>T (p.Ala601Ser) c.1906G>T (p.Ala636Ser) | |
17 | g.44254557C>G | CA399782741 | SLC4A1 | c.1996G>C (p.Ala666Pro) c.898G>C (p.Ala300Pro) c.1801G>C (p.Ala601Pro) c.1906G>C (p.Ala636Pro) | |
17 | g.44254557C>T | CA399782742 | SLC4A1 | c.1996G>A (p.Ala666Thr) c.898G>A (p.Ala300Thr) c.1801G>A (p.Ala601Thr) c.1906G>A (p.Ala636Thr) | |
17 | g.44254558A>C | CA399782744 | SLC4A1 | c.1995T>G (p.Phe665Leu) c.897T>G (p.Phe299Leu) c.1800T>G (p.Phe600Leu) c.1905T>G (p.Phe635Leu) | |
17 | g.44254558A>G | CA500285500 | SLC4A1 | c.1995T>C (p.Phe665=) c.897T>C (p.Phe299=) c.1800T>C (p.Phe600=) c.1905T>C (p.Phe635=) | |
17 | g.44254558A>T | CA399782745 | SLC4A1 | c.1995T>A (p.Phe665Leu) c.897T>A (p.Phe299Leu) c.1800T>A (p.Phe600Leu) c.1905T>A (p.Phe635Leu) | |
17 | g.44254558_44254561delinsAAAC | CA2261308269 | SLC4A1 | c.1992_1995delinsGTTT (p.Met664=) c.894_897delinsGTTT (p.Met298=) c.1797_1800delinsGTTT (p.Met599=) c.1902_1905delinsGTTT (p.Met634=) | |
17 | g.44254559A>C | CA399782746 | SLC4A1 | c.1994T>G (p.Phe665Cys) c.896T>G (p.Phe299Cys) c.1799T>G (p.Phe600Cys) c.1904T>G (p.Phe635Cys) | |
17 | g.44254559A>G | CA399782747 | SLC4A1 | c.1994T>C (p.Phe665Ser) c.896T>C (p.Phe299Ser) c.1799T>C (p.Phe600Ser) c.1904T>C (p.Phe635Ser) | |
17 | g.44254559A>T | CA399782748 | SLC4A1 | c.1994T>A (p.Phe665Tyr) c.896T>A (p.Phe299Tyr) c.1799T>A (p.Phe600Tyr) c.1904T>A (p.Phe635Tyr) | |
17 | g.44254560_44254562del | CA2261308270 | SLC4A1 | c.1992_1994del (p.Met664_Phe665delinsIle) c.894_896del (p.Met298_Phe299delinsIle) c.1797_1799del (p.Met599_Phe600delinsIle) c.1902_1904del (p.Met634_Phe635delinsIle) | dbSNP |
17 | g.44254560A= | CA2261308271 | SLC4A1 | c.1993T= (p.Phe665=) c.895T= (p.Phe299=) c.1798T= (p.Phe600=) c.1903T= (p.Phe635=) | |
17 | g.44254560A>C | CA399782752 | SLC4A1 | c.1993T>G (p.Phe665Val) c.895T>G (p.Phe299Val) c.1798T>G (p.Phe600Val) c.1903T>G (p.Phe635Val) | |
17 | g.44254560A>G | CA399782749 | SLC4A1 | c.1993T>C (p.Phe665Leu) c.895T>C (p.Phe299Leu) c.1798T>C (p.Phe600Leu) c.1903T>C (p.Phe635Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254560A>T | CA399782751 | SLC4A1 | c.1993T>A (p.Phe665Ile) c.895T>A (p.Phe299Ile) c.1798T>A (p.Phe600Ile) c.1903T>A (p.Phe635Ile) | |
17 | g.44254561C>A | CA399782755 | SLC4A1 | c.1992G>T (p.Met664Ile) c.894G>T (p.Met298Ile) c.1797G>T (p.Met599Ile) c.1902G>T (p.Met634Ile) | |
17 | g.44254561C>G | CA399782759 | SLC4A1 | c.1992G>C (p.Met664Ile) c.894G>C (p.Met298Ile) c.1797G>C (p.Met599Ile) c.1902G>C (p.Met634Ile) | |
17 | g.44254561C>T | CA399782761 | SLC4A1 | c.1992G>A (p.Met664Ile) c.894G>A (p.Met298Ile) c.1797G>A (p.Met599Ile) c.1902G>A (p.Met634Ile) | |
17 | g.44254565_44254567del | CA2580613150 | SLC4A1 | c.1990_1992del (p.Met664del) c.892_894del (p.Met298del) c.1795_1797del (p.Met599del) c.1900_1902del (p.Met634del) | ClinVar gnomAD v4 |
17 | g.44254562A>C | CA399782764 | SLC4A1 | c.1991T>G (p.Met664Arg) c.893T>G (p.Met298Arg) c.1796T>G (p.Met599Arg) c.1901T>G (p.Met634Arg) | |
17 | g.44254562A>G | CA399782765 | SLC4A1 | c.1991T>C (p.Met664Thr) c.893T>C (p.Met298Thr) c.1796T>C (p.Met599Thr) c.1901T>C (p.Met634Thr) | |
17 | g.44254562A>T | CA399782766 | SLC4A1 | c.1991T>A (p.Met664Lys) c.893T>A (p.Met298Lys) c.1796T>A (p.Met599Lys) c.1901T>A (p.Met634Lys) | |
17 | g.44254563T>A | CA399782767 | SLC4A1 | c.1990A>T (p.Met664Leu) c.892A>T (p.Met298Leu) c.1795A>T (p.Met599Leu) c.1900A>T (p.Met634Leu) | |
17 | g.44254563T>C | CA399782771 | SLC4A1 | c.1990A>G (p.Met664Val) c.892A>G (p.Met298Val) c.1795A>G (p.Met599Val) c.1900A>G (p.Met634Val) | |
17 | g.44254563T>G | CA399782773 | SLC4A1 | c.1990A>C (p.Met664Leu) c.892A>C (p.Met298Leu) c.1795A>C (p.Met599Leu) c.1900A>C (p.Met634Leu) | |
17 | g.44254564del | CA2695226322 | SLC4A1 | c.1989del (p.Met663IlefsTer25) c.891del (p.Met297IlefsTer25) c.1794del (p.Met598IlefsTer25) c.1899del (p.Met633IlefsTer25) c.1989del (p.Met663IlefsTer?) | |
17 | g.44254564C>A | CA399782782 | SLC4A1 | c.1989G>T (p.Met663Ile) c.891G>T (p.Met297Ile) c.1794G>T (p.Met598Ile) c.1899G>T (p.Met633Ile) | |
17 | g.44254564C>G | CA399782783 | SLC4A1 | c.1989G>C (p.Met663Ile) c.891G>C (p.Met297Ile) c.1794G>C (p.Met598Ile) c.1899G>C (p.Met633Ile) | |
17 | g.44254564C>T | CA399782784 | SLC4A1 | c.1989G>A (p.Met663Ile) c.891G>A (p.Met297Ile) c.1794G>A (p.Met598Ile) c.1899G>A (p.Met633Ile) | |
17 | g.44254565A>C | CA399782785 | SLC4A1 | c.1988T>G (p.Met663Arg) c.890T>G (p.Met297Arg) c.1793T>G (p.Met598Arg) c.1898T>G (p.Met633Arg) | |
17 | g.44254565A>G | CA399782787 | SLC4A1 | c.1988T>C (p.Met663Thr) c.890T>C (p.Met297Thr) c.1793T>C (p.Met598Thr) c.1898T>C (p.Met633Thr) | |
17 | g.44254565A>T | CA399782786 | SLC4A1 | c.1988T>A (p.Met663Lys) c.890T>A (p.Met297Lys) c.1793T>A (p.Met598Lys) c.1898T>A (p.Met633Lys) | |
17 | g.44254566T>A | CA399782790 | SLC4A1 | c.1987A>T (p.Met663Leu) c.889A>T (p.Met297Leu) c.1792A>T (p.Met598Leu) c.1897A>T (p.Met633Leu) | |
17 | g.44254566T>C | CA399782792 | SLC4A1 | c.1987A>G (p.Met663Val) c.889A>G (p.Met297Val) c.1792A>G (p.Met598Val) c.1897A>G (p.Met633Val) | |
17 | g.44254566T>G | CA399782795 | SLC4A1 | c.1987A>C (p.Met663Leu) c.889A>C (p.Met297Leu) c.1792A>C (p.Met598Leu) c.1897A>C (p.Met633Leu) | |
17 | g.44254567C>A | CA399782796 | SLC4A1 | c.1986G>T (p.Trp662Cys) c.888G>T (p.Trp296Cys) c.1791G>T (p.Trp597Cys) c.1896G>T (p.Trp632Cys) | ClinVar |
17 | g.44254567C>G | CA399782797 | SLC4A1 | c.1986G>C (p.Trp662Cys) c.888G>C (p.Trp296Cys) c.1791G>C (p.Trp597Cys) c.1896G>C (p.Trp632Cys) | |
17 | g.44254567C>T | CA399782798 | SLC4A1 | c.1986G>A (p.Trp662Ter) c.888G>A (p.Trp296Ter) c.1791G>A (p.Trp597Ter) c.1896G>A (p.Trp632Ter) | COSMIC |
17 | g.44254568C>A | CA399782800 | SLC4A1 | c.1985G>T (p.Trp662Leu) c.887G>T (p.Trp296Leu) c.1790G>T (p.Trp597Leu) c.1895G>T (p.Trp632Leu) | |
17 | g.44254568C>G | CA399782803 | SLC4A1 | c.1985G>C (p.Trp662Ser) c.887G>C (p.Trp296Ser) c.1790G>C (p.Trp597Ser) c.1895G>C (p.Trp632Ser) | |
17 | g.44254568C>T | CA399782807 | SLC4A1 | c.1985G>A (p.Trp662Ter) c.887G>A (p.Trp296Ter) c.1790G>A (p.Trp597Ter) c.1895G>A (p.Trp632Ter) | |
17 | g.44254569A>C | CA399782811 | SLC4A1 | c.1984T>G (p.Trp662Gly) c.886T>G (p.Trp296Gly) c.1789T>G (p.Trp597Gly) c.1894T>G (p.Trp632Gly) | |
17 | g.44254569A>G | CA399782816 | SLC4A1 | c.1984T>C (p.Trp662Arg) c.886T>C (p.Trp296Arg) c.1789T>C (p.Trp597Arg) c.1894T>C (p.Trp632Arg) | |
17 | g.44254569A>T | CA399782818 | SLC4A1 | c.1984T>A (p.Trp662Arg) c.886T>A (p.Trp296Arg) c.1789T>A (p.Trp597Arg) c.1894T>A (p.Trp632Arg) | |
17 | g.44254570G>A | CA500285541 | SLC4A1 | c.1983C>T (p.Ile661=) c.885C>T (p.Ile295=) c.1788C>T (p.Ile596=) c.1893C>T (p.Ile631=) | |
17 | g.44254570G>C | CA399782828 | SLC4A1 | c.1983C>G (p.Ile661Met) c.885C>G (p.Ile295Met) c.1788C>G (p.Ile596Met) c.1893C>G (p.Ile631Met) | |
17 | g.44254570G= | CA2261308272 | SLC4A1 | c.1983C= (p.Ile661=) c.885C= (p.Ile295=) c.1788C= (p.Ile596=) c.1893C= (p.Ile631=) | |
17 | g.44254570G>T | CA8600151 | SLC4A1 | c.1983C>A (p.Ile661=) c.885C>A (p.Ile295=) c.1788C>A (p.Ile596=) c.1893C>A (p.Ile631=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254571A= | CA2261308273 | SLC4A1 | c.1982T= (p.Ile661=) c.884T= (p.Ile295=) c.1787T= (p.Ile596=) c.1892T= (p.Ile631=) | |
17 | g.44254571A>C | CA399782831 | SLC4A1 | c.1982T>G (p.Ile661Ser) c.884T>G (p.Ile295Ser) c.1787T>G (p.Ile596Ser) c.1892T>G (p.Ile631Ser) | |
17 | g.44254571A>G | CA8600152 | SLC4A1 | c.1982T>C (p.Ile661Thr) c.884T>C (p.Ile295Thr) c.1787T>C (p.Ile596Thr) c.1892T>C (p.Ile631Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44254571A>T | CA399782837 | SLC4A1 | c.1982T>A (p.Ile661Asn) c.884T>A (p.Ile295Asn) c.1787T>A (p.Ile596Asn) c.1892T>A (p.Ile631Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254572T>A | CA399782838 | SLC4A1 | c.1981A>T (p.Ile661Phe) c.883A>T (p.Ile295Phe) c.1786A>T (p.Ile596Phe) c.1891A>T (p.Ile631Phe) | |
17 | g.44254572T>C | CA399782840 | SLC4A1 | c.1981A>G (p.Ile661Val) c.883A>G (p.Ile295Val) c.1786A>G (p.Ile596Val) c.1891A>G (p.Ile631Val) | |
17 | g.44254572T>G | CA399782843 | SLC4A1 | c.1981A>C (p.Ile661Leu) c.883A>C (p.Ile295Leu) c.1786A>C (p.Ile596Leu) c.1891A>C (p.Ile631Leu) | |
17 | g.44254573G>A | CA8600153 | SLC4A1 | c.1980C>T (p.Pro660=) c.882C>T (p.Pro294=) c.1785C>T (p.Pro595=) c.1890C>T (p.Pro630=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254573G>C | CA500285553 | SLC4A1 | c.1980C>G (p.Pro660=) c.882C>G (p.Pro294=) c.1785C>G (p.Pro595=) c.1890C>G (p.Pro630=) | |
17 | g.44254573G= | CA2261308274 | SLC4A1 | c.1980C= (p.Pro660=) c.882C= (p.Pro294=) c.1785C= (p.Pro595=) c.1890C= (p.Pro630=) | |
17 | g.44254573G>T | CA500285559 | SLC4A1 | c.1980C>A (p.Pro660=) c.882C>A (p.Pro294=) c.1785C>A (p.Pro595=) c.1890C>A (p.Pro630=) | |
17 | g.44254574G>A | CA399782852 | SLC4A1 | c.1979C>T (p.Pro660Leu) c.881C>T (p.Pro294Leu) c.1784C>T (p.Pro595Leu) c.1889C>T (p.Pro630Leu) | |
17 | g.44254574G>C | CA399782857 | SLC4A1 | c.1979C>G (p.Pro660Arg) c.881C>G (p.Pro294Arg) c.1784C>G (p.Pro595Arg) c.1889C>G (p.Pro630Arg) | |
17 | g.44254574G>T | CA399782872 | SLC4A1 | c.1979C>A (p.Pro660His) c.881C>A (p.Pro294His) c.1784C>A (p.Pro595His) c.1889C>A (p.Pro630His) | |
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.44254575G>A | CA399782880 | SLC4A1 | c.1978C>T (p.Pro660Ser) c.880C>T (p.Pro294Ser) c.1783C>T (p.Pro595Ser) c.1888C>T (p.Pro630Ser) | |
17 | g.44254575G>C | CA399782881 | SLC4A1 | c.1978C>G (p.Pro660Ala) c.880C>G (p.Pro294Ala) c.1783C>G (p.Pro595Ala) c.1888C>G (p.Pro630Ala) | |
17 | g.44254575G>T | CA399782883 | SLC4A1 | c.1978C>A (p.Pro660Thr) c.880C>A (p.Pro294Thr) c.1783C>A (p.Pro595Thr) c.1888C>A (p.Pro630Thr) | |
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) |