Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44254466_44254486delCA2638191147SLC4A1c.2057+18_2057+38del (n.2057+18_2057+38del)
c.959+18_959+38del (n.959+18_959+38del)
c.1862+18_1862+38del (n.1862+18_1862+38del)
c.1967+18_1967+38del (n.1967+18_1967+38del)
 gnomAD v4
17g.44254480_44254485delCA2638191276SLC4A1c.2057+14_2057+19del (n.2057+14_2057+19del)
c.959+14_959+19del (n.959+14_959+19del)
c.1862+14_1862+19del (n.1862+14_1862+19del)
c.1967+14_1967+19del (n.1967+14_1967+19del)
 gnomAD v4
17g.44254483_44254486delCA2638191288SLC4A1c.2057+10_2057+13del (n.2057+10_2057+13del)
c.959+10_959+13del (n.959+10_959+13del)
c.1862+10_1862+13del (n.1862+10_1862+13del)
c.1967+10_1967+13del (n.1967+10_1967+13del)
 gnomAD v4
17g.44254484C>ACA2638191289SLC4A1c.2057+12G>T (n.2057+12G>T)
c.959+12G>T (n.959+12G>T)
c.1862+12G>T (n.1862+12G>T)
c.1967+12G>T (n.1967+12G>T)
 gnomAD v4
17g.44254485C>ACA2512303226SLC4A1c.2057+11G>T (n.2057+11G>T)
c.959+11G>T (n.959+11G>T)
c.1862+11G>T (n.1862+11G>T)
c.1967+11G>T (n.1967+11G>T)
 gnomAD v4
17g.44254485C>TCA2638191290SLC4A1c.2057+11G>A (n.2057+11G>A)
c.959+11G>A (n.959+11G>A)
c.1862+11G>A (n.1862+11G>A)
c.1967+11G>A (n.1967+11G>A)
 gnomAD v4
17g.44254485_44254486delinsCTCA2261308245SLC4A1c.2057+10_2057+11delinsAG (n.2057+10_2057+11delinsAG)
c.959+10_959+11delinsAG (n.959+10_959+11delinsAG)
c.1862+10_1862+11delinsAG (n.1862+10_1862+11delinsAG)
c.1967+10_1967+11delinsAG (n.1967+10_1967+11delinsAG)
17g.44254485_44254486insCAGCA2638191291SLC4A1c.2057+10_2057+11insCTG (n.2057+10_2057+11insCTG)
c.959+10_959+11insCTG (n.959+10_959+11insCTG)
c.1862+10_1862+11insCTG (n.1862+10_1862+11insCTG)
c.1967+10_1967+11insCTG (n.1967+10_1967+11insCTG)
 gnomAD v4
17g.44254485_44254486insCCAGCA2638191293SLC4A1c.2057+10_2057+11insCTGG (n.2057+10_2057+11insCTGG)
c.959+10_959+11insCTGG (n.959+10_959+11insCTGG)
c.1862+10_1862+11insCTGG (n.1862+10_1862+11insCTGG)
c.1967+10_1967+11insCTGG (n.1967+10_1967+11insCTGG)
 gnomAD v4
17g.44254486delCA626124719SLC4A1c.2057+10del (n.2057+10del)
c.959+10del (n.959+10del)
c.1862+10del (n.1862+10del)
c.1967+10del (n.1967+10del)
 dbSNP gnomAD v2 gnomAD v4
17g.44254486T>ACA984004628SLC4A1c.2057+10A>T (n.2057+10A>T)
c.959+10A>T (n.959+10A>T)
c.1862+10A>T (n.1862+10A>T)
c.1967+10A>T (n.1967+10A>T)
 dbSNP gnomAD v3 gnomAD v4
17g.44254486T>CCA626124720SLC4A1c.2057+10A>G (n.2057+10A>G)
c.959+10A>G (n.959+10A>G)
c.1862+10A>G (n.1862+10A>G)
c.1967+10A>G (n.1967+10A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.44254486T>GCA2638191292SLC4A1c.2057+10A>C (n.2057+10A>C)
c.959+10A>C (n.959+10A>C)
c.1862+10A>C (n.1862+10A>C)
c.1967+10A>C (n.1967+10A>C)
 gnomAD v4
17g.44254486T=CA2261308246SLC4A1c.2057+10A= (n.2057+10A=)
c.959+10A= (n.959+10A=)
c.1862+10A= (n.1862+10A=)
c.1967+10A= (n.1967+10A=)
17g.44254487G>ACA8600140SLC4A1c.2057+9C>T (n.2057+9C>T)
c.959+9C>T (n.959+9C>T)
c.1862+9C>T (n.1862+9C>T)
c.1967+9C>T (n.1967+9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254487G>CCA2638191295SLC4A1c.2057+9C>G (n.2057+9C>G)
c.959+9C>G (n.959+9C>G)
c.1862+9C>G (n.1862+9C>G)
c.1967+9C>G (n.1967+9C>G)
 gnomAD v4
17g.44254487G=CA2261308247SLC4A1c.2057+9C= (n.2057+9C=)
c.959+9C= (n.959+9C=)
c.1862+9C= (n.1862+9C=)
c.1967+9C= (n.1967+9C=)
17g.44254487G>TCA2638191294SLC4A1c.2057+9C>A (n.2057+9C>A)
c.959+9C>A (n.959+9C>A)
c.1862+9C>A (n.1862+9C>A)
c.1967+9C>A (n.1967+9C>A)
 gnomAD v4
17g.44254487_44254489delinsGTCCA2261308248SLC4A1c.2057+7_2057+9delinsGAC (n.2057+7_2057+9delinsGAC)
c.959+7_959+9delinsGAC (n.959+7_959+9delinsGAC)
c.1862+7_1862+9delinsGAC (n.1862+7_1862+9delinsGAC)
c.1967+7_1967+9delinsGAC (n.1967+7_1967+9delinsGAC)
17g.44254488T>CCA2638191297SLC4A1c.2057+8A>G (n.2057+8A>G)
c.959+8A>G (n.959+8A>G)
c.1862+8A>G (n.1862+8A>G)
c.1967+8A>G (n.1967+8A>G)
 gnomAD v4
17g.44254488T>GCA2638191296SLC4A1c.2057+8A>C (n.2057+8A>C)
c.959+8A>C (n.959+8A>C)
c.1862+8A>C (n.1862+8A>C)
c.1967+8A>C (n.1967+8A>C)
 gnomAD v4
17g.44254492_44254493delCA626124721SLC4A1c.2057+7_2057+8del (n.2057+7_2057+8del)
c.959+7_959+8del (n.959+7_959+8del)
c.1862+7_1862+8del (n.1862+7_1862+8del)
c.1967+7_1967+8del (n.1967+7_1967+8del)
 dbSNP gnomAD v2 gnomAD v4
17g.44254489C>ACA2638191298SLC4A1c.2057+7G>T (n.2057+7G>T)
c.959+7G>T (n.959+7G>T)
c.1862+7G>T (n.1862+7G>T)
c.1967+7G>T (n.1967+7G>T)
 gnomAD v4
17g.44254489C>GCA2576289183SLC4A1c.2057+7G>C (n.2057+7G>C)
c.959+7G>C (n.959+7G>C)
c.1862+7G>C (n.1862+7G>C)
c.1967+7G>C (n.1967+7G>C)
 gnomAD v4
17g.44254490delCA2809585936SLC4A1c.2057+6del (n.2057+6del)
c.959+6del (n.959+6del)
c.1862+6del (n.1862+6del)
c.1967+6del (n.1967+6del)
17g.44254490T>ACA2638191299SLC4A1c.2057+6A>T (n.2057+6A>T)
c.959+6A>T (n.959+6A>T)
c.1862+6A>T (n.1862+6A>T)
c.1967+6A>T (n.1967+6A>T)
 gnomAD v4
17g.44254490T>CCA2638191300SLC4A1c.2057+6A>G (n.2057+6A>G)
c.959+6A>G (n.959+6A>G)
c.1862+6A>G (n.1862+6A>G)
c.1967+6A>G (n.1967+6A>G)
 gnomAD v4
17g.44254490T>GCA2638191301SLC4A1c.2057+6A>C (n.2057+6A>C)
c.959+6A>C (n.959+6A>C)
c.1862+6A>C (n.1862+6A>C)
c.1967+6A>C (n.1967+6A>C)
 gnomAD v4
17g.44254491C>ACA2638191302SLC4A1c.2057+5G>T (n.2057+5G>T)
c.959+5G>T (n.959+5G>T)
c.1862+5G>T (n.1862+5G>T)
c.1967+5G>T (n.1967+5G>T)
 gnomAD v4
17g.44254491_44254495delinsTTCATCA2695226321SLC4A1c.2057+1_2057+5delinsATGAA (n.2057+1_2057+5delinsATGAA)
c.959+1_959+5delinsATGAA (n.959+1_959+5delinsATGAA)
c.1862+1_1862+5delinsATGAA (n.1862+1_1862+5delinsATGAA)
c.1967+1_1967+5delinsATGAA (n.1967+1_1967+5delinsATGAA)
17g.44254492T>ACA2638191303SLC4A1c.2057+4A>T (n.2057+4A>T)
c.959+4A>T (n.959+4A>T)
c.1862+4A>T (n.1862+4A>T)
c.1967+4A>T (n.1967+4A>T)
 gnomAD v4
17g.44254492T>CCA2638191304SLC4A1c.2057+4A>G (n.2057+4A>G)
c.959+4A>G (n.959+4A>G)
c.1862+4A>G (n.1862+4A>G)
c.1967+4A>G (n.1967+4A>G)
 gnomAD v4
17g.44254493C>ACA2638191305SLC4A1c.2057+3G>T (n.2057+3G>T)
c.959+3G>T (n.959+3G>T)
c.1862+3G>T (n.1862+3G>T)
c.1967+3G>T (n.1967+3G>T)
 gnomAD v4
17g.44254493C>TCA2809585937SLC4A1c.2057+3G>A (n.2057+3G>A)
c.959+3G>A (n.959+3G>A)
c.1862+3G>A (n.1862+3G>A)
c.1967+3G>A (n.1967+3G>A)
17g.44254494A>CCA399782507SLC4A1c.2057+2T>G (n.2057+2T>G)
c.959+2T>G (n.959+2T>G)
c.1862+2T>G (n.1862+2T>G)
c.1967+2T>G (n.1967+2T>G)
 gnomAD v4
17g.44254494A>GCA399782512SLC4A1c.2057+2T>C (n.2057+2T>C)
c.959+2T>C (n.959+2T>C)
c.1862+2T>C (n.1862+2T>C)
c.1967+2T>C (n.1967+2T>C)
17g.44254494A>TCA399782509SLC4A1c.2057+2T>A (n.2057+2T>A)
c.959+2T>A (n.959+2T>A)
c.1862+2T>A (n.1862+2T>A)
c.1967+2T>A (n.1967+2T>A)
17g.44254495C>ACA399782514SLC4A1c.2057+1G>T (n.2057+1G>T)
c.959+1G>T (n.959+1G>T)
c.1862+1G>T (n.1862+1G>T)
c.1967+1G>T (n.1967+1G>T)
 gnomAD v4
17g.44254495C=CA2261308249SLC4A1c.2057+1G= (n.2057+1G=)
c.959+1G= (n.959+1G=)
c.1862+1G= (n.1862+1G=)
c.1967+1G= (n.1967+1G=)
17g.44254495C>GCA399782517SLC4A1c.2057+1G>C (n.2057+1G>C)
c.959+1G>C (n.959+1G>C)
c.1862+1G>C (n.1862+1G>C)
c.1967+1G>C (n.1967+1G>C)
 ClinVar dbSNP
17g.44254495C>TCA399782515SLC4A1c.2057+1G>A (n.2057+1G>A)
c.959+1G>A (n.959+1G>A)
c.1862+1G>A (n.1862+1G>A)
c.1967+1G>A (n.1967+1G>A)
 ClinVar dbSNP gnomAD v4
17g.44254496G>ACA8600141SLC4A1c.2057C>T (p.Thr686Met)
c.959C>T (p.Thr320Met)
c.1862C>T (p.Thr621Met)
c.1967C>T (p.Thr656Met)
c.2057C>T (p.Thr686Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254496G>CCA399782520SLC4A1c.2057C>G (p.Thr686Arg)
c.959C>G (p.Thr320Arg)
c.1862C>G (p.Thr621Arg)
c.1967C>G (p.Thr656Arg)
c.2057C>G (p.Thr686Ser)
 gnomAD v3 gnomAD v4
17g.44254496G=CA2261308250SLC4A1c.2057C= (p.Thr686=)
c.959C= (p.Thr320=)
c.1862C= (p.Thr621=)
c.1967C= (p.Thr656=)
17g.44254496G>TCA8600142SLC4A1c.2057C>A (p.Thr686Lys)
c.959C>A (p.Thr320Lys)
c.1862C>A (p.Thr621Lys)
c.1967C>A (p.Thr656Lys)
c.2057C>A (p.Thr686Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44254497T>ACA399782524SLC4A1c.2056A>T (p.Thr686Ser)
c.958A>T (p.Thr320Ser)
c.1861A>T (p.Thr621Ser)
c.1966A>T (p.Thr656Ser)
17g.44254497T>CCA399782526SLC4A1c.2056A>G (p.Thr686Ala)
c.958A>G (p.Thr320Ala)
c.1861A>G (p.Thr621Ala)
c.1966A>G (p.Thr656Ala)
17g.44254497T>GCA399782529SLC4A1c.2056A>C (p.Thr686Pro)
c.958A>C (p.Thr320Pro)
c.1861A>C (p.Thr621Pro)
c.1966A>C (p.Thr656Pro)
17g.44254498G>ACA8600143SLC4A1c.2055C>T (p.Thr685=)
c.957C>T (p.Thr319=)
c.1860C>T (p.Thr620=)
c.1965C>T (p.Thr655=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44254498G>CCA500285284SLC4A1c.2055C>G (p.Thr685=)
c.957C>G (p.Thr319=)
c.1860C>G (p.Thr620=)
c.1965C>G (p.Thr655=)
17g.44254498G=CA2261308251SLC4A1c.2055C= (p.Thr685=)
c.957C= (p.Thr319=)
c.1860C= (p.Thr620=)
c.1965C= (p.Thr655=)
17g.44254498G>TCA500285286SLC4A1c.2055C>A (p.Thr685=)
c.957C>A (p.Thr319=)
c.1860C>A (p.Thr620=)
c.1965C>A (p.Thr655=)
 gnomAD v4
17g.44254499delCA2638191306SLC4A1c.2055del (p.Thr686ArgfsTer2)
c.957del (p.Thr320ArgfsTer2)
c.1860del (p.Thr621ArgfsTer2)
c.1965del (p.Thr656ArgfsTer2)
c.2055del (p.Thr686LeufsTer?)
 gnomAD v4
17g.44254499G>ACA399782532SLC4A1c.2054C>T (p.Thr685Ile)
c.956C>T (p.Thr319Ile)
c.1859C>T (p.Thr620Ile)
c.1964C>T (p.Thr655Ile)
17g.44254499G>CCA399782533SLC4A1c.2054C>G (p.Thr685Ser)
c.956C>G (p.Thr319Ser)
c.1859C>G (p.Thr620Ser)
c.1964C>G (p.Thr655Ser)
17g.44254499G>TCA399782535SLC4A1c.2054C>A (p.Thr685Asn)
c.956C>A (p.Thr319Asn)
c.1859C>A (p.Thr620Asn)
c.1964C>A (p.Thr655Asn)
17g.44254500T>ACA399782540SLC4A1c.2053A>T (p.Thr685Ser)
c.955A>T (p.Thr319Ser)
c.1858A>T (p.Thr620Ser)
c.1963A>T (p.Thr655Ser)
17g.44254500T>CCA8600144SLC4A1c.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
17g.44254500T>GCA399782537SLC4A1c.2053A>C (p.Thr685Pro)
c.955A>C (p.Thr319Pro)
c.1858A>C (p.Thr620Pro)
c.1963A>C (p.Thr655Pro)
 gnomAD v4
17g.44254500T=CA2261308252SLC4A1c.2053A= (p.Thr685=)
c.955A= (p.Thr319=)
c.1858A= (p.Thr620=)
c.1963A= (p.Thr655=)
17g.44254501G>ACA500285291SLC4A1c.2052C>T (p.Ile684=)
c.954C>T (p.Ile318=)
c.1857C>T (p.Ile619=)
c.1962C>T (p.Ile654=)
 gnomAD v4
17g.44254501G>CCA399782543SLC4A1c.2052C>G (p.Ile684Met)
c.954C>G (p.Ile318Met)
c.1857C>G (p.Ile619Met)
c.1962C>G (p.Ile654Met)
17g.44254501G=CA2261308253SLC4A1c.2052C= (p.Ile684=)
c.954C= (p.Ile318=)
c.1857C= (p.Ile619=)
c.1962C= (p.Ile654=)
17g.44254501G>TCA500285290SLC4A1c.2052C>A (p.Ile684=)
c.954C>A (p.Ile318=)
c.1857C>A (p.Ile619=)
c.1962C>A (p.Ile654=)
 dbSNP gnomAD v3 gnomAD v4
17g.44254502A>CCA399782545SLC4A1c.2051T>G (p.Ile684Ser)
c.953T>G (p.Ile318Ser)
c.1856T>G (p.Ile619Ser)
c.1961T>G (p.Ile654Ser)
17g.44254502A>GCA399782547SLC4A1c.2051T>C (p.Ile684Thr)
c.953T>C (p.Ile318Thr)
c.1856T>C (p.Ile619Thr)
c.1961T>C (p.Ile654Thr)
17g.44254502A>TCA399782549SLC4A1c.2051T>A (p.Ile684Asn)
c.953T>A (p.Ile318Asn)
c.1856T>A (p.Ile619Asn)
c.1961T>A (p.Ile654Asn)
 gnomAD v4
17g.44254503T>ACA399782551SLC4A1c.2050A>T (p.Ile684Phe)
c.952A>T (p.Ile318Phe)
c.1855A>T (p.Ile619Phe)
c.1960A>T (p.Ile654Phe)
17g.44254503T>CCA399782553SLC4A1c.2050A>G (p.Ile684Val)
c.952A>G (p.Ile318Val)
c.1855A>G (p.Ile619Val)
c.1960A>G (p.Ile654Val)
17g.44254503T>GCA399782555SLC4A1c.2050A>C (p.Ile684Leu)
c.952A>C (p.Ile318Leu)
c.1855A>C (p.Ile619Leu)
c.1960A>C (p.Ile654Leu)
17g.44254504C>ACA399782557SLC4A1c.2049G>T (p.Gln683His)
c.951G>T (p.Gln317His)
c.1854G>T (p.Gln618His)
c.1959G>T (p.Gln653His)
 gnomAD v4
17g.44254504C>GCA399782559SLC4A1c.2049G>C (p.Gln683His)
c.951G>C (p.Gln317His)
c.1854G>C (p.Gln618His)
c.1959G>C (p.Gln653His)
17g.44254504C>TCA500285298SLC4A1c.2049G>A (p.Gln683=)
c.951G>A (p.Gln317=)
c.1854G>A (p.Gln618=)
c.1959G>A (p.Gln653=)
17g.44254505T>ACA399782561SLC4A1c.2048A>T (p.Gln683Leu)
c.950A>T (p.Gln317Leu)
c.1853A>T (p.Gln618Leu)
c.1958A>T (p.Gln653Leu)
 gnomAD v4
17g.44254505T>CCA399782563SLC4A1c.2048A>G (p.Gln683Arg)
c.950A>G (p.Gln317Arg)
c.1853A>G (p.Gln618Arg)
c.1958A>G (p.Gln653Arg)
17g.44254505T>GCA399782565SLC4A1c.2048A>C (p.Gln683Pro)
c.950A>C (p.Gln317Pro)
c.1853A>C (p.Gln618Pro)
c.1958A>C (p.Gln653Pro)
17g.44254506G>ACA399782570SLC4A1c.2047C>T (p.Gln683Ter)
c.949C>T (p.Gln317Ter)
c.1852C>T (p.Gln618Ter)
c.1957C>T (p.Gln653Ter)
17g.44254506G>CCA399782571SLC4A1c.2047C>G (p.Gln683Glu)
c.949C>G (p.Gln317Glu)
c.1852C>G (p.Gln618Glu)
c.1957C>G (p.Gln653Glu)
17g.44254506G>TCA399782568SLC4A1c.2047C>A (p.Gln683Lys)
c.949C>A (p.Gln317Lys)
c.1852C>A (p.Gln618Lys)
c.1957C>A (p.Gln653Lys)
 gnomAD v4
17g.44254507A>CCA500285305SLC4A1c.2046T>G (p.Ser682=)
c.948T>G (p.Ser316=)
c.1851T>G (p.Ser617=)
c.1956T>G (p.Ser652=)
17g.44254507A>GCA500285307SLC4A1c.2046T>C (p.Ser682=)
c.948T>C (p.Ser316=)
c.1851T>C (p.Ser617=)
c.1956T>C (p.Ser652=)
17g.44254507A>TCA500285304SLC4A1c.2046T>A (p.Ser682=)
c.948T>A (p.Ser316=)
c.1851T>A (p.Ser617=)
c.1956T>A (p.Ser652=)
 gnomAD v4
17g.44254508G>ACA399782572SLC4A1c.2045C>T (p.Ser682Phe)
c.947C>T (p.Ser316Phe)
c.1850C>T (p.Ser617Phe)
c.1955C>T (p.Ser652Phe)
 dbSNP gnomAD v4
17g.44254508G>CCA399782574SLC4A1c.2045C>G (p.Ser682Cys)
c.947C>G (p.Ser316Cys)
c.1850C>G (p.Ser617Cys)
c.1955C>G (p.Ser652Cys)
17g.44254508G=CA2261308254SLC4A1c.2045C= (p.Ser682=)
c.947C= (p.Ser316=)
c.1850C= (p.Ser617=)
c.1955C= (p.Ser652=)
17g.44254508G>TCA399782577SLC4A1c.2045C>A (p.Ser682Tyr)
c.947C>A (p.Ser316Tyr)
c.1850C>A (p.Ser617Tyr)
c.1955C>A (p.Ser652Tyr)
 gnomAD v4
17g.44254509A>CCA399782581SLC4A1c.2044T>G (p.Ser682Ala)
c.946T>G (p.Ser316Ala)
c.1849T>G (p.Ser617Ala)
c.1954T>G (p.Ser652Ala)
17g.44254509A>GCA399782582SLC4A1c.2044T>C (p.Ser682Pro)
c.946T>C (p.Ser316Pro)
c.1849T>C (p.Ser617Pro)
c.1954T>C (p.Ser652Pro)
 gnomAD v4
17g.44254509A>TCA399782584SLC4A1c.2044T>A (p.Ser682Thr)
c.946T>A (p.Ser316Thr)
c.1849T>A (p.Ser617Thr)
c.1954T>A (p.Ser652Thr)
 gnomAD v4
17g.44254510C>ACA399782588SLC4A1c.2043G>T (p.Glu681Asp)
c.945G>T (p.Glu315Asp)
c.1848G>T (p.Glu616Asp)
c.1953G>T (p.Glu651Asp)
 gnomAD v4
17g.44254510C>GCA399782587SLC4A1c.2043G>C (p.Glu681Asp)
c.945G>C (p.Glu315Asp)
c.1848G>C (p.Glu616Asp)
c.1953G>C (p.Glu651Asp)
17g.44254510C>TCA500285312SLC4A1c.2043G>A (p.Glu681=)
c.945G>A (p.Glu315=)
c.1848G>A (p.Glu616=)
c.1953G>A (p.Glu651=)
 gnomAD v4
17g.44254511T>ACA399782589SLC4A1c.2042A>T (p.Glu681Val)
c.944A>T (p.Glu315Val)
c.1847A>T (p.Glu616Val)
c.1952A>T (p.Glu651Val)
 gnomAD v4
17g.44254511T>CCA399782591SLC4A1c.2042A>G (p.Glu681Gly)
c.944A>G (p.Glu315Gly)
c.1847A>G (p.Glu616Gly)
c.1952A>G (p.Glu651Gly)
17g.44254511T>GCA399782593SLC4A1c.2042A>C (p.Glu681Ala)
c.944A>C (p.Glu315Ala)
c.1847A>C (p.Glu616Ala)
c.1952A>C (p.Glu651Ala)
17g.44254512C>ACA399782595SLC4A1c.2041G>T (p.Glu681Ter)
c.943G>T (p.Glu315Ter)
c.1846G>T (p.Glu616Ter)
c.1951G>T (p.Glu651Ter)
 gnomAD v4
17g.44254512C>GCA399782597SLC4A1c.2041G>C (p.Glu681Gln)
c.943G>C (p.Glu315Gln)
c.1846G>C (p.Glu616Gln)
c.1951G>C (p.Glu651Gln)
17g.44254512C>TCA399782599SLC4A1c.2041G>A (p.Glu681Lys)
c.943G>A (p.Glu315Lys)
c.1846G>A (p.Glu616Lys)
c.1951G>A (p.Glu651Lys)
 gnomAD v4
17g.44254513C>ACA500285319SLC4A1c.2040G>T (p.Leu680=)
c.942G>T (p.Leu314=)
c.1845G>T (p.Leu615=)
c.1950G>T (p.Leu650=)
17g.44254513C>GCA500285318SLC4A1c.2040G>C (p.Leu680=)
c.942G>C (p.Leu314=)
c.1845G>C (p.Leu615=)
c.1950G>C (p.Leu650=)
17g.44254513C>TCA500285317SLC4A1c.2040G>A (p.Leu680=)
c.942G>A (p.Leu314=)
c.1845G>A (p.Leu615=)
c.1950G>A (p.Leu650=)
17g.44254514A>CCA399782600SLC4A1c.2039T>G (p.Leu680Arg)
c.941T>G (p.Leu314Arg)
c.1844T>G (p.Leu615Arg)
c.1949T>G (p.Leu650Arg)
17g.44254514A>GCA399782603SLC4A1c.2039T>C (p.Leu680Pro)
c.941T>C (p.Leu314Pro)
c.1844T>C (p.Leu615Pro)
c.1949T>C (p.Leu650Pro)
17g.44254514A>TCA399782602SLC4A1c.2039T>A (p.Leu680Gln)
c.941T>A (p.Leu314Gln)
c.1844T>A (p.Leu615Gln)
c.1949T>A (p.Leu650Gln)
17g.44254515G>ACA500285324SLC4A1c.2038C>T (p.Leu680=)
c.940C>T (p.Leu314=)
c.1843C>T (p.Leu615=)
c.1948C>T (p.Leu650=)
17g.44254515G>CCA399782606SLC4A1c.2038C>G (p.Leu680Val)
c.940C>G (p.Leu314Val)
c.1843C>G (p.Leu615Val)
c.1948C>G (p.Leu650Val)
17g.44254515G>TCA399782607SLC4A1c.2038C>A (p.Leu680Met)
c.940C>A (p.Leu314Met)
c.1843C>A (p.Leu615Met)
c.1948C>A (p.Leu650Met)
17g.44254516G>ACA500285325SLC4A1c.2037C>T (p.Phe679=)
c.939C>T (p.Phe313=)
c.1842C>T (p.Phe614=)
c.1947C>T (p.Phe649=)
17g.44254516G>CCA399782609SLC4A1c.2037C>G (p.Phe679Leu)
c.939C>G (p.Phe313Leu)
c.1842C>G (p.Phe614Leu)
c.1947C>G (p.Phe649Leu)
17g.44254516G>TCA399782611SLC4A1c.2037C>A (p.Phe679Leu)
c.939C>A (p.Phe313Leu)
c.1842C>A (p.Phe614Leu)
c.1947C>A (p.Phe649Leu)
17g.44254517A=CA2261308255SLC4A1c.2036T= (p.Phe679=)
c.938T= (p.Phe313=)
c.1841T= (p.Phe614=)
c.1946T= (p.Phe649=)
17g.44254517A>CCA399782614SLC4A1c.2036T>G (p.Phe679Cys)
c.938T>G (p.Phe313Cys)
c.1841T>G (p.Phe614Cys)
c.1946T>G (p.Phe649Cys)
 dbSNP gnomAD v4
17g.44254517A>GCA399782616SLC4A1c.2036T>C (p.Phe679Ser)
c.938T>C (p.Phe313Ser)
c.1841T>C (p.Phe614Ser)
c.1946T>C (p.Phe649Ser)
17g.44254517A>TCA399782618SLC4A1c.2036T>A (p.Phe679Tyr)
c.938T>A (p.Phe313Tyr)
c.1841T>A (p.Phe614Tyr)
c.1946T>A (p.Phe649Tyr)
17g.44254518A=CA2261308256SLC4A1c.2035T= (p.Phe679=)
c.937T= (p.Phe313=)
c.1840T= (p.Phe614=)
c.1945T= (p.Phe649=)
17g.44254518A>CCA399782620SLC4A1c.2035T>G (p.Phe679Val)
c.937T>G (p.Phe313Val)
c.1840T>G (p.Phe614Val)
c.1945T>G (p.Phe649Val)
17g.44254518A>GCA8600145SLC4A1c.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
17g.44254518A>TCA399782624SLC4A1c.2035T>A (p.Phe679Ile)
c.937T>A (p.Phe313Ile)
c.1840T>A (p.Phe614Ile)
c.1945T>A (p.Phe649Ile)
17g.44254519T>ACA500285330SLC4A1c.2034A>T (p.Ile678=)
c.936A>T (p.Ile312=)
c.1839A>T (p.Ile613=)
c.1944A>T (p.Ile648=)
17g.44254519T>CCA399782625SLC4A1c.2034A>G (p.Ile678Met)
c.936A>G (p.Ile312Met)
c.1839A>G (p.Ile613Met)
c.1944A>G (p.Ile648Met)
17g.44254519T>GCA500285333SLC4A1c.2034A>C (p.Ile678=)
c.936A>C (p.Ile312=)
c.1839A>C (p.Ile613=)
c.1944A>C (p.Ile648=)
17g.44254520A=CA2261308257SLC4A1c.2033T= (p.Ile678=)
c.935T= (p.Ile312=)
c.1838T= (p.Ile613=)
c.1943T= (p.Ile648=)
17g.44254520A>CCA399782629SLC4A1c.2033T>G (p.Ile678Arg)
c.935T>G (p.Ile312Arg)
c.1838T>G (p.Ile613Arg)
c.1943T>G (p.Ile648Arg)
17g.44254520A>GCA399782628SLC4A1c.2033T>C (p.Ile678Thr)
c.935T>C (p.Ile312Thr)
c.1838T>C (p.Ile613Thr)
c.1943T>C (p.Ile648Thr)
 dbSNP gnomAD v4
17g.44254520A>TCA399782627SLC4A1c.2033T>A (p.Ile678Lys)
c.935T>A (p.Ile312Lys)
c.1838T>A (p.Ile613Lys)
c.1943T>A (p.Ile648Lys)
17g.44254521T>ACA399782630SLC4A1c.2032A>T (p.Ile678Leu)
c.934A>T (p.Ile312Leu)
c.1837A>T (p.Ile613Leu)
c.1942A>T (p.Ile648Leu)
17g.44254521T>CCA399782631SLC4A1c.2032A>G (p.Ile678Val)
c.934A>G (p.Ile312Val)
c.1837A>G (p.Ile613Val)
c.1942A>G (p.Ile648Val)
 gnomAD v4
17g.44254521T>GCA399782633SLC4A1c.2032A>C (p.Ile678Leu)
c.934A>C (p.Ile312Leu)
c.1837A>C (p.Ile613Leu)
c.1942A>C (p.Ile648Leu)
 gnomAD v4
17g.44254522G>ACA500285338SLC4A1c.2031C>T (p.Leu677=)
c.933C>T (p.Leu311=)
c.1836C>T (p.Leu612=)
c.1941C>T (p.Leu647=)
 COSMIC
17g.44254522G>CCA500285339SLC4A1c.2031C>G (p.Leu677=)
c.933C>G (p.Leu311=)
c.1836C>G (p.Leu612=)
c.1941C>G (p.Leu647=)
17g.44254522G>TCA500285340SLC4A1c.2031C>A (p.Leu677=)
c.933C>A (p.Leu311=)
c.1836C>A (p.Leu612=)
c.1941C>A (p.Leu647=)
17g.44254523A>CCA399782634SLC4A1c.2030T>G (p.Leu677Arg)
c.932T>G (p.Leu311Arg)
c.1835T>G (p.Leu612Arg)
c.1940T>G (p.Leu647Arg)
17g.44254523A>GCA399782635SLC4A1c.2030T>C (p.Leu677Pro)
c.932T>C (p.Leu311Pro)
c.1835T>C (p.Leu612Pro)
c.1940T>C (p.Leu647Pro)
17g.44254523A>TCA399782636SLC4A1c.2030T>A (p.Leu677His)
c.932T>A (p.Leu311His)
c.1835T>A (p.Leu612His)
c.1940T>A (p.Leu647His)
17g.44254524G>ACA8600146SLC4A1c.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
17g.44254524G>CCA399782637SLC4A1c.2029C>G (p.Leu677Val)
c.931C>G (p.Leu311Val)
c.1834C>G (p.Leu612Val)
c.1939C>G (p.Leu647Val)
17g.44254524G=CA2261308258SLC4A1c.2029C= (p.Leu677=)
c.931C= (p.Leu311=)
c.1834C= (p.Leu612=)
c.1939C= (p.Leu647=)
17g.44254524G>TCA399782638SLC4A1c.2029C>A (p.Leu677Ile)
c.931C>A (p.Leu311Ile)
c.1834C>A (p.Leu612Ile)
c.1939C>A (p.Leu647Ile)
17g.44254525G>ACA500285343SLC4A1c.2028C>T (p.Ile676=)
c.930C>T (p.Ile310=)
c.1833C>T (p.Ile611=)
c.1938C>T (p.Ile646=)
17g.44254525G>CCA399782640SLC4A1c.2028C>G (p.Ile676Met)
c.930C>G (p.Ile310Met)
c.1833C>G (p.Ile611Met)
c.1938C>G (p.Ile646Met)
17g.44254525G>TCA500285348SLC4A1c.2028C>A (p.Ile676=)
c.930C>A (p.Ile310=)
c.1833C>A (p.Ile611=)
c.1938C>A (p.Ile646=)
17g.44254526A>CCA399782641SLC4A1c.2027T>G (p.Ile676Ser)
c.929T>G (p.Ile310Ser)
c.1832T>G (p.Ile611Ser)
c.1937T>G (p.Ile646Ser)
17g.44254526A>GCA399782642SLC4A1c.2027T>C (p.Ile676Thr)
c.929T>C (p.Ile310Thr)
c.1832T>C (p.Ile611Thr)
c.1937T>C (p.Ile646Thr)
17g.44254526A>TCA399782643SLC4A1c.2027T>A (p.Ile676Asn)
c.929T>A (p.Ile310Asn)
c.1832T>A (p.Ile611Asn)
c.1937T>A (p.Ile646Asn)
17g.44254527T>ACA399782646SLC4A1c.2026A>T (p.Ile676Phe)
c.928A>T (p.Ile310Phe)
c.1831A>T (p.Ile611Phe)
c.1936A>T (p.Ile646Phe)
17g.44254527T>CCA399782645SLC4A1c.2026A>G (p.Ile676Val)
c.928A>G (p.Ile310Val)
c.1831A>G (p.Ile611Val)
c.1936A>G (p.Ile646Val)
17g.44254527T>GCA399782644SLC4A1c.2026A>C (p.Ile676Leu)
c.928A>C (p.Ile310Leu)
c.1831A>C (p.Ile611Leu)
c.1936A>C (p.Ile646Leu)
17g.44254527dupCA2697559954SLC4A1c.2026dup (p.Ile676AsnfsTer18)
c.928dup (p.Ile310AsnfsTer18)
c.1831dup (p.Ile611AsnfsTer18)
c.1936dup (p.Ile646AsnfsTer18)
c.2026dup (p.Ile676AsnfsTer?)
 ClinVar
17g.44254528G>ACA500285355SLC4A1c.2025C>T (p.Phe675=)
c.927C>T (p.Phe309=)
c.1830C>T (p.Phe610=)
c.1935C>T (p.Phe645=)
17g.44254528G>CCA399782647SLC4A1c.2025C>G (p.Phe675Leu)
c.927C>G (p.Phe309Leu)
c.1830C>G (p.Phe610Leu)
c.1935C>G (p.Phe645Leu)
17g.44254528G>TCA399782648SLC4A1c.2025C>A (p.Phe675Leu)
c.927C>A (p.Phe309Leu)
c.1830C>A (p.Phe610Leu)
c.1935C>A (p.Phe645Leu)
17g.44254529A>CCA399782650SLC4A1c.2024T>G (p.Phe675Cys)
c.926T>G (p.Phe309Cys)
c.1829T>G (p.Phe610Cys)
c.1934T>G (p.Phe645Cys)
17g.44254529A>GCA399782652SLC4A1c.2024T>C (p.Phe675Ser)
c.926T>C (p.Phe309Ser)
c.1829T>C (p.Phe610Ser)
c.1934T>C (p.Phe645Ser)
17g.44254529A>TCA399782653SLC4A1c.2024T>A (p.Phe675Tyr)
c.926T>A (p.Phe309Tyr)
c.1829T>A (p.Phe610Tyr)
c.1934T>A (p.Phe645Tyr)
17g.44254530A>CCA399782654SLC4A1c.2023T>G (p.Phe675Val)
c.925T>G (p.Phe309Val)
c.1828T>G (p.Phe610Val)
c.1933T>G (p.Phe645Val)
17g.44254530A>GCA399782655SLC4A1c.2023T>C (p.Phe675Leu)
c.925T>C (p.Phe309Leu)
c.1828T>C (p.Phe610Leu)
c.1933T>C (p.Phe645Leu)
17g.44254530A>TCA399782656SLC4A1c.2023T>A (p.Phe675Ile)
c.925T>A (p.Phe309Ile)
c.1828T>A (p.Phe610Ile)
c.1933T>A (p.Phe645Ile)
17g.44254531G>ACA500285357SLC4A1c.2022C>T (p.Val674=)
c.924C>T (p.Val308=)
c.1827C>T (p.Val609=)
c.1932C>T (p.Val644=)
17g.44254531G>CCA500285359SLC4A1c.2022C>G (p.Val674=)
c.924C>G (p.Val308=)
c.1827C>G (p.Val609=)
c.1932C>G (p.Val644=)
17g.44254531G>TCA500285358SLC4A1c.2022C>A (p.Val674=)
c.924C>A (p.Val308=)
c.1827C>A (p.Val609=)
c.1932C>A (p.Val644=)
17g.44254532A>CCA399782657SLC4A1c.2021T>G (p.Val674Gly)
c.923T>G (p.Val308Gly)
c.1826T>G (p.Val609Gly)
c.1931T>G (p.Val644Gly)
17g.44254532A>GCA399782658SLC4A1c.2021T>C (p.Val674Ala)
c.923T>C (p.Val308Ala)
c.1826T>C (p.Val609Ala)
c.1931T>C (p.Val644Ala)
17g.44254532A>TCA399782659SLC4A1c.2021T>A (p.Val674Asp)
c.923T>A (p.Val308Asp)
c.1826T>A (p.Val609Asp)
c.1931T>A (p.Val644Asp)
17g.44254533C>ACA399782660SLC4A1c.2020G>T (p.Val674Phe)
c.922G>T (p.Val308Phe)
c.1825G>T (p.Val609Phe)
c.1930G>T (p.Val644Phe)
17g.44254533C=CA2261308259SLC4A1c.2020G= (p.Val674=)
c.922G= (p.Val308=)
c.1825G= (p.Val609=)
c.1930G= (p.Val644=)
17g.44254533C>GCA399782661SLC4A1c.2020G>C (p.Val674Leu)
c.922G>C (p.Val308Leu)
c.1825G>C (p.Val609Leu)
c.1930G>C (p.Val644Leu)
17g.44254533C>TCA8600147SLC4A1c.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
17g.44254534C>ACA500285363SLC4A1c.2019G>T (p.Leu673=)
c.921G>T (p.Leu307=)
c.1824G>T (p.Leu608=)
c.1929G>T (p.Leu643=)
17g.44254534C=CA2261308260SLC4A1c.2019G= (p.Leu673=)
c.921G= (p.Leu307=)
c.1824G= (p.Leu608=)
c.1929G= (p.Leu643=)
17g.44254534C>GCA500285364SLC4A1c.2019G>C (p.Leu673=)
c.921G>C (p.Leu307=)
c.1824G>C (p.Leu608=)
c.1929G>C (p.Leu643=)
17g.44254534C>TCA500285365SLC4A1c.2019G>A (p.Leu673=)
c.921G>A (p.Leu307=)
c.1824G>A (p.Leu608=)
c.1929G>A (p.Leu643=)
 ClinVar dbSNP gnomAD v4
17g.44254535A>CCA399782664SLC4A1c.2018T>G (p.Leu673Arg)
c.920T>G (p.Leu307Arg)
c.1823T>G (p.Leu608Arg)
c.1928T>G (p.Leu643Arg)
17g.44254535A>GCA399782665SLC4A1c.2018T>C (p.Leu673Pro)
c.920T>C (p.Leu307Pro)
c.1823T>C (p.Leu608Pro)
c.1928T>C (p.Leu643Pro)
 ClinVar dbSNP
17g.44254535A>TCA399782662SLC4A1c.2018T>A (p.Leu673Gln)
c.920T>A (p.Leu307Gln)
c.1823T>A (p.Leu608Gln)
c.1928T>A (p.Leu643Gln)
17g.44254536G>ACA500285368SLC4A1c.2017C>T (p.Leu673=)
c.919C>T (p.Leu307=)
c.1822C>T (p.Leu608=)
c.1927C>T (p.Leu643=)
 gnomAD v4 COSMIC
17g.44254536G>CCA399782666SLC4A1c.2017C>G (p.Leu673Val)
c.919C>G (p.Leu307Val)
c.1822C>G (p.Leu608Val)
c.1927C>G (p.Leu643Val)
17g.44254536G>TCA399782667SLC4A1c.2017C>A (p.Leu673Met)
c.919C>A (p.Leu307Met)
c.1822C>A (p.Leu608Met)
c.1927C>A (p.Leu643Met)
17g.44254537C>ACA500285369SLC4A1c.2016G>T (p.Leu672=)
c.918G>T (p.Leu306=)
c.1821G>T (p.Leu607=)
c.1926G>T (p.Leu642=)
17g.44254537C>GCA500285372SLC4A1c.2016G>C (p.Leu672=)
c.918G>C (p.Leu306=)
c.1821G>C (p.Leu607=)
c.1926G>C (p.Leu642=)
17g.44254537C>TCA500285370SLC4A1c.2016G>A (p.Leu672=)
c.918G>A (p.Leu306=)
c.1821G>A (p.Leu607=)
c.1926G>A (p.Leu642=)
 gnomAD v4
17g.44254538A>CCA399782668SLC4A1c.2015T>G (p.Leu672Arg)
c.917T>G (p.Leu306Arg)
c.1820T>G (p.Leu607Arg)
c.1925T>G (p.Leu642Arg)
17g.44254538A>GCA399782669SLC4A1c.2015T>C (p.Leu672Pro)
c.917T>C (p.Leu306Pro)
c.1820T>C (p.Leu607Pro)
c.1925T>C (p.Leu642Pro)
17g.44254538A>TCA399782670SLC4A1c.2015T>A (p.Leu672Gln)
c.917T>A (p.Leu306Gln)
c.1820T>A (p.Leu607Gln)
c.1925T>A (p.Leu642Gln)
17g.44254539G>ACA500285375SLC4A1c.2014C>T (p.Leu672=)
c.916C>T (p.Leu306=)
c.1819C>T (p.Leu607=)
c.1924C>T (p.Leu642=)
 dbSNP gnomAD v3 gnomAD v4
17g.44254539G>CCA399782671SLC4A1c.2014C>G (p.Leu672Val)
c.916C>G (p.Leu306Val)
c.1819C>G (p.Leu607Val)
c.1924C>G (p.Leu642Val)
17g.44254539G=CA2261308261SLC4A1c.2014C= (p.Leu672=)
c.916C= (p.Leu306=)
c.1819C= (p.Leu607=)
c.1924C= (p.Leu642=)
17g.44254539G>TCA399782673SLC4A1c.2014C>A (p.Leu672Met)
c.916C>A (p.Leu306Met)
c.1819C>A (p.Leu607Met)
c.1924C>A (p.Leu642Met)
17g.44254540A>CCA500285376SLC4A1c.2013T>G (p.Ala671=)
c.915T>G (p.Ala305=)
c.1818T>G (p.Ala606=)
c.1923T>G (p.Ala641=)
17g.44254540A>GCA500285377SLC4A1c.2013T>C (p.Ala671=)
c.915T>C (p.Ala305=)
c.1818T>C (p.Ala606=)
c.1923T>C (p.Ala641=)
17g.44254540A>TCA500285378SLC4A1c.2013T>A (p.Ala671=)
c.915T>A (p.Ala305=)
c.1818T>A (p.Ala606=)
c.1923T>A (p.Ala641=)
 gnomAD v4
17g.44254541G>ACA399782675SLC4A1c.2012C>T (p.Ala671Val)
c.914C>T (p.Ala305Val)
c.1817C>T (p.Ala606Val)
c.1922C>T (p.Ala641Val)
 dbSNP gnomAD v2 gnomAD v4
17g.44254541G>CCA399782677SLC4A1c.2012C>G (p.Ala671Gly)
c.914C>G (p.Ala305Gly)
c.1817C>G (p.Ala606Gly)
c.1922C>G (p.Ala641Gly)
17g.44254541G=CA2261308262SLC4A1c.2012C= (p.Ala671=)
c.914C= (p.Ala305=)
c.1817C= (p.Ala606=)
c.1922C= (p.Ala641=)
17g.44254541G>TCA399782678SLC4A1c.2012C>A (p.Ala671Asp)
c.914C>A (p.Ala305Asp)
c.1817C>A (p.Ala606Asp)
c.1922C>A (p.Ala641Asp)
17g.44254542C>ACA399782681SLC4A1c.2011G>T (p.Ala671Ser)
c.913G>T (p.Ala305Ser)
c.1816G>T (p.Ala606Ser)
c.1921G>T (p.Ala641Ser)
17g.44254542C>GCA399782686SLC4A1c.2011G>C (p.Ala671Pro)
c.913G>C (p.Ala305Pro)
c.1816G>C (p.Ala606Pro)
c.1921G>C (p.Ala641Pro)
 ClinVar
17g.44254542C>TCA399782687SLC4A1c.2011G>A (p.Ala671Thr)
c.913G>A (p.Ala305Thr)
c.1816G>A (p.Ala606Thr)
c.1921G>A (p.Ala641Thr)
 gnomAD v4
17g.44254543A>CCA500285379SLC4A1c.2010T>G (p.Pro670=)
c.912T>G (p.Pro304=)
c.1815T>G (p.Pro605=)
c.1920T>G (p.Pro640=)
17g.44254543A>GCA500285380SLC4A1c.2010T>C (p.Pro670=)
c.912T>C (p.Pro304=)
c.1815T>C (p.Pro605=)
c.1920T>C (p.Pro640=)
17g.44254543A>TCA500285381SLC4A1c.2010T>A (p.Pro670=)
c.912T>A (p.Pro304=)
c.1815T>A (p.Pro605=)
c.1920T>A (p.Pro640=)
17g.44254544G>ACA399782690SLC4A1c.2009C>T (p.Pro670Leu)
c.911C>T (p.Pro304Leu)
c.1814C>T (p.Pro605Leu)
c.1919C>T (p.Pro640Leu)
 gnomAD v4
17g.44254544G>CCA399782688SLC4A1c.2009C>G (p.Pro670Arg)
c.911C>G (p.Pro304Arg)
c.1814C>G (p.Pro605Arg)
c.1919C>G (p.Pro640Arg)
 ClinVar
17g.44254544G>TCA399782689SLC4A1c.2009C>A (p.Pro670His)
c.911C>A (p.Pro304His)
c.1814C>A (p.Pro605His)
c.1919C>A (p.Pro640His)
17g.44254545G>ACA399782691SLC4A1c.2008C>T (p.Pro670Ser)
c.910C>T (p.Pro304Ser)
c.1813C>T (p.Pro605Ser)
c.1918C>T (p.Pro640Ser)
17g.44254545G>CCA290928466SLC4A1c.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
17g.44254545G=CA2261308263SLC4A1c.2008C= (p.Pro670=)
c.910C= (p.Pro304=)
c.1813C= (p.Pro605=)
c.1918C= (p.Pro640=)
17g.44254545G>TCA399782692SLC4A1c.2008C>A (p.Pro670Thr)
c.910C>A (p.Pro304Thr)
c.1813C>A (p.Pro605Thr)
c.1918C>A (p.Pro640Thr)
17g.44254546C>ACA500285384SLC4A1c.2007G>T (p.Leu669=)
c.909G>T (p.Leu303=)
c.1812G>T (p.Leu604=)
c.1917G>T (p.Leu639=)
17g.44254546C>GCA500285382SLC4A1c.2007G>C (p.Leu669=)
c.909G>C (p.Leu303=)
c.1812G>C (p.Leu604=)
c.1917G>C (p.Leu639=)
17g.44254546C>TCA500285383SLC4A1c.2007G>A (p.Leu669=)
c.909G>A (p.Leu303=)
c.1812G>A (p.Leu604=)
c.1917G>A (p.Leu639=)
17g.44254547A>CCA399782693SLC4A1c.2006T>G (p.Leu669Arg)
c.908T>G (p.Leu303Arg)
c.1811T>G (p.Leu604Arg)
c.1916T>G (p.Leu639Arg)
17g.44254547A>GCA399782695SLC4A1c.2006T>C (p.Leu669Pro)
c.908T>C (p.Leu303Pro)
c.1811T>C (p.Leu604Pro)
c.1916T>C (p.Leu639Pro)
 gnomAD v4
17g.44254547A>TCA399782697SLC4A1c.2006T>A (p.Leu669Gln)
c.908T>A (p.Leu303Gln)
c.1811T>A (p.Leu604Gln)
c.1916T>A (p.Leu639Gln)
17g.44254548G>ACA500285385SLC4A1c.2005C>T (p.Leu669=)
c.907C>T (p.Leu303=)
c.1810C>T (p.Leu604=)
c.1915C>T (p.Leu639=)
17g.44254548G>CCA399782699SLC4A1c.2005C>G (p.Leu669Val)
c.907C>G (p.Leu303Val)
c.1810C>G (p.Leu604Val)
c.1915C>G (p.Leu639Val)
17g.44254548G>TCA399782701SLC4A1c.2005C>A (p.Leu669Met)
c.907C>A (p.Leu303Met)
c.1810C>A (p.Leu604Met)
c.1915C>A (p.Leu639Met)
17g.44254549G>ACA500285386SLC4A1c.2004C>T (p.Ala668=)
c.906C>T (p.Ala302=)
c.1809C>T (p.Ala603=)
c.1914C>T (p.Ala638=)
17g.44254549G>CCA500285387SLC4A1c.2004C>G (p.Ala668=)
c.906C>G (p.Ala302=)
c.1809C>G (p.Ala603=)
c.1914C>G (p.Ala638=)
17g.44254549G>TCA500285388SLC4A1c.2004C>A (p.Ala668=)
c.906C>A (p.Ala302=)
c.1809C>A (p.Ala603=)
c.1914C>A (p.Ala638=)
17g.44254550G>ACA399782702SLC4A1c.2003C>T (p.Ala668Val)
c.905C>T (p.Ala302Val)
c.1808C>T (p.Ala603Val)
c.1913C>T (p.Ala638Val)
 dbSNP gnomAD v4
17g.44254550G>CCA399782705SLC4A1c.2003C>G (p.Ala668Gly)
c.905C>G (p.Ala302Gly)
c.1808C>G (p.Ala603Gly)
c.1913C>G (p.Ala638Gly)
 gnomAD v4
17g.44254550G=CA2261308264SLC4A1c.2003C= (p.Ala668=)
c.905C= (p.Ala302=)
c.1808C= (p.Ala603=)
c.1913C= (p.Ala638=)
17g.44254550G>TCA399782708SLC4A1c.2003C>A (p.Ala668Asp)
c.905C>A (p.Ala302Asp)
c.1808C>A (p.Ala603Asp)
c.1913C>A (p.Ala638Asp)
17g.44254551C>ACA399782712SLC4A1c.2002G>T (p.Ala668Ser)
c.904G>T (p.Ala302Ser)
c.1807G>T (p.Ala603Ser)
c.1912G>T (p.Ala638Ser)
 ClinVar gnomAD v4
17g.44254551C=CA2261308265SLC4A1c.2002G= (p.Ala668=)
c.904G= (p.Ala302=)
c.1807G= (p.Ala603=)
c.1912G= (p.Ala638=)
17g.44254551C>GCA399782727SLC4A1c.2002G>C (p.Ala668Pro)
c.904G>C (p.Ala302Pro)
c.1807G>C (p.Ala603Pro)
c.1912G>C (p.Ala638Pro)
17g.44254551C>TCA8600148SLC4A1c.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
17g.44254552G>ACA8600149SLC4A1c.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
17g.44254552G>CCA500285389SLC4A1c.2001C>G (p.Ser667=)
c.903C>G (p.Ser301=)
c.1806C>G (p.Ser602=)
c.1911C>G (p.Ser637=)
17g.44254552G=CA2261308266SLC4A1c.2001C= (p.Ser667=)
c.903C= (p.Ser301=)
c.1806C= (p.Ser602=)
c.1911C= (p.Ser637=)
17g.44254552G>TCA500285390SLC4A1c.2001C>A (p.Ser667=)
c.903C>A (p.Ser301=)
c.1806C>A (p.Ser602=)
c.1911C>A (p.Ser637=)
 gnomAD v4
17g.44254553G>ACA399782731SLC4A1c.2000C>T (p.Ser667Phe)
c.902C>T (p.Ser301Phe)
c.1805C>T (p.Ser602Phe)
c.1910C>T (p.Ser637Phe)
 gnomAD v4
17g.44254553G>CCA399782730SLC4A1c.2000C>G (p.Ser667Cys)
c.902C>G (p.Ser301Cys)
c.1805C>G (p.Ser602Cys)
c.1910C>G (p.Ser637Cys)
17g.44254553G>TCA399782732SLC4A1c.2000C>A (p.Ser667Tyr)
c.902C>A (p.Ser301Tyr)
c.1805C>A (p.Ser602Tyr)
c.1910C>A (p.Ser637Tyr)
 ClinVar
17g.44254554A=CA2261308267SLC4A1c.1999T= (p.Ser667=)
c.901T= (p.Ser301=)
c.1804T= (p.Ser602=)
c.1909T= (p.Ser637=)
17g.44254554A>CCA399782733SLC4A1c.1999T>G (p.Ser667Ala)
c.901T>G (p.Ser301Ala)
c.1804T>G (p.Ser602Ala)
c.1909T>G (p.Ser637Ala)
17g.44254554A>GCA399782734SLC4A1c.1999T>C (p.Ser667Pro)
c.901T>C (p.Ser301Pro)
c.1804T>C (p.Ser602Pro)
c.1909T>C (p.Ser637Pro)
 gnomAD v4
17g.44254554A>TCA8600150SLC4A1c.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
17g.44254555G>ACA500285394SLC4A1c.1998C>T (p.Ala666=)
c.900C>T (p.Ala300=)
c.1803C>T (p.Ala601=)
c.1908C>T (p.Ala636=)
 dbSNP gnomAD v2 gnomAD v4
17g.44254555G>CCA500285395SLC4A1c.1998C>G (p.Ala666=)
c.900C>G (p.Ala300=)
c.1803C>G (p.Ala601=)
c.1908C>G (p.Ala636=)
17g.44254555G=CA2261308268SLC4A1c.1998C= (p.Ala666=)
c.900C= (p.Ala300=)
c.1803C= (p.Ala601=)
c.1908C= (p.Ala636=)
17g.44254555G>TCA500285397SLC4A1c.1998C>A (p.Ala666=)
c.900C>A (p.Ala300=)
c.1803C>A (p.Ala601=)
c.1908C>A (p.Ala636=)
 dbSNP gnomAD v3 gnomAD v4
17g.44254556G>ACA399782735SLC4A1c.1997C>T (p.Ala666Val)
c.899C>T (p.Ala300Val)
c.1802C>T (p.Ala601Val)
c.1907C>T (p.Ala636Val)
17g.44254556G>CCA399782736SLC4A1c.1997C>G (p.Ala666Gly)
c.899C>G (p.Ala300Gly)
c.1802C>G (p.Ala601Gly)
c.1907C>G (p.Ala636Gly)
17g.44254556G>TCA399782738SLC4A1c.1997C>A (p.Ala666Asp)
c.899C>A (p.Ala300Asp)
c.1802C>A (p.Ala601Asp)
c.1907C>A (p.Ala636Asp)
17g.44254557C>ACA399782743SLC4A1c.1996G>T (p.Ala666Ser)
c.898G>T (p.Ala300Ser)
c.1801G>T (p.Ala601Ser)
c.1906G>T (p.Ala636Ser)
17g.44254557C>GCA399782741SLC4A1c.1996G>C (p.Ala666Pro)
c.898G>C (p.Ala300Pro)
c.1801G>C (p.Ala601Pro)
c.1906G>C (p.Ala636Pro)
17g.44254557C>TCA399782742SLC4A1c.1996G>A (p.Ala666Thr)
c.898G>A (p.Ala300Thr)
c.1801G>A (p.Ala601Thr)
c.1906G>A (p.Ala636Thr)
17g.44254558A>CCA399782744SLC4A1c.1995T>G (p.Phe665Leu)
c.897T>G (p.Phe299Leu)
c.1800T>G (p.Phe600Leu)
c.1905T>G (p.Phe635Leu)
17g.44254558A>GCA500285500SLC4A1c.1995T>C (p.Phe665=)
c.897T>C (p.Phe299=)
c.1800T>C (p.Phe600=)
c.1905T>C (p.Phe635=)
17g.44254558A>TCA399782745SLC4A1c.1995T>A (p.Phe665Leu)
c.897T>A (p.Phe299Leu)
c.1800T>A (p.Phe600Leu)
c.1905T>A (p.Phe635Leu)
17g.44254558_44254561delinsAAACCA2261308269SLC4A1c.1992_1995delinsGTTT (p.Met664=)
c.894_897delinsGTTT (p.Met298=)
c.1797_1800delinsGTTT (p.Met599=)
c.1902_1905delinsGTTT (p.Met634=)
17g.44254559A>CCA399782746SLC4A1c.1994T>G (p.Phe665Cys)
c.896T>G (p.Phe299Cys)
c.1799T>G (p.Phe600Cys)
c.1904T>G (p.Phe635Cys)
17g.44254559A>GCA399782747SLC4A1c.1994T>C (p.Phe665Ser)
c.896T>C (p.Phe299Ser)
c.1799T>C (p.Phe600Ser)
c.1904T>C (p.Phe635Ser)
17g.44254559A>TCA399782748SLC4A1c.1994T>A (p.Phe665Tyr)
c.896T>A (p.Phe299Tyr)
c.1799T>A (p.Phe600Tyr)
c.1904T>A (p.Phe635Tyr)
17g.44254560_44254562delCA2261308270SLC4A1c.1992_1994del (p.Met664_Phe665delinsIle)
c.894_896del (p.Met298_Phe299delinsIle)
c.1797_1799del (p.Met599_Phe600delinsIle)
c.1902_1904del (p.Met634_Phe635delinsIle)
 dbSNP
17g.44254560A=CA2261308271SLC4A1c.1993T= (p.Phe665=)
c.895T= (p.Phe299=)
c.1798T= (p.Phe600=)
c.1903T= (p.Phe635=)
17g.44254560A>CCA399782752SLC4A1c.1993T>G (p.Phe665Val)
c.895T>G (p.Phe299Val)
c.1798T>G (p.Phe600Val)
c.1903T>G (p.Phe635Val)
17g.44254560A>GCA399782749SLC4A1c.1993T>C (p.Phe665Leu)
c.895T>C (p.Phe299Leu)
c.1798T>C (p.Phe600Leu)
c.1903T>C (p.Phe635Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.44254560A>TCA399782751SLC4A1c.1993T>A (p.Phe665Ile)
c.895T>A (p.Phe299Ile)
c.1798T>A (p.Phe600Ile)
c.1903T>A (p.Phe635Ile)
17g.44254561C>ACA399782755SLC4A1c.1992G>T (p.Met664Ile)
c.894G>T (p.Met298Ile)
c.1797G>T (p.Met599Ile)
c.1902G>T (p.Met634Ile)
17g.44254561C>GCA399782759SLC4A1c.1992G>C (p.Met664Ile)
c.894G>C (p.Met298Ile)
c.1797G>C (p.Met599Ile)
c.1902G>C (p.Met634Ile)
17g.44254561C>TCA399782761SLC4A1c.1992G>A (p.Met664Ile)
c.894G>A (p.Met298Ile)
c.1797G>A (p.Met599Ile)
c.1902G>A (p.Met634Ile)
17g.44254565_44254567delCA2580613150SLC4A1c.1990_1992del (p.Met664del)
c.892_894del (p.Met298del)
c.1795_1797del (p.Met599del)
c.1900_1902del (p.Met634del)
 ClinVar gnomAD v4
17g.44254562A>CCA399782764SLC4A1c.1991T>G (p.Met664Arg)
c.893T>G (p.Met298Arg)
c.1796T>G (p.Met599Arg)
c.1901T>G (p.Met634Arg)
17g.44254562A>GCA399782765SLC4A1c.1991T>C (p.Met664Thr)
c.893T>C (p.Met298Thr)
c.1796T>C (p.Met599Thr)
c.1901T>C (p.Met634Thr)
17g.44254562A>TCA399782766SLC4A1c.1991T>A (p.Met664Lys)
c.893T>A (p.Met298Lys)
c.1796T>A (p.Met599Lys)
c.1901T>A (p.Met634Lys)
17g.44254563T>ACA399782767SLC4A1c.1990A>T (p.Met664Leu)
c.892A>T (p.Met298Leu)
c.1795A>T (p.Met599Leu)
c.1900A>T (p.Met634Leu)
17g.44254563T>CCA399782771SLC4A1c.1990A>G (p.Met664Val)
c.892A>G (p.Met298Val)
c.1795A>G (p.Met599Val)
c.1900A>G (p.Met634Val)
17g.44254563T>GCA399782773SLC4A1c.1990A>C (p.Met664Leu)
c.892A>C (p.Met298Leu)
c.1795A>C (p.Met599Leu)
c.1900A>C (p.Met634Leu)
17g.44254564delCA2695226322SLC4A1c.1989del (p.Met663IlefsTer25)
c.891del (p.Met297IlefsTer25)
c.1794del (p.Met598IlefsTer25)
c.1899del (p.Met633IlefsTer25)
c.1989del (p.Met663IlefsTer?)
17g.44254564C>ACA399782782SLC4A1c.1989G>T (p.Met663Ile)
c.891G>T (p.Met297Ile)
c.1794G>T (p.Met598Ile)
c.1899G>T (p.Met633Ile)
17g.44254564C>GCA399782783SLC4A1c.1989G>C (p.Met663Ile)
c.891G>C (p.Met297Ile)
c.1794G>C (p.Met598Ile)
c.1899G>C (p.Met633Ile)
17g.44254564C>TCA399782784SLC4A1c.1989G>A (p.Met663Ile)
c.891G>A (p.Met297Ile)
c.1794G>A (p.Met598Ile)
c.1899G>A (p.Met633Ile)
17g.44254565A>CCA399782785SLC4A1c.1988T>G (p.Met663Arg)
c.890T>G (p.Met297Arg)
c.1793T>G (p.Met598Arg)
c.1898T>G (p.Met633Arg)
17g.44254565A>GCA399782787SLC4A1c.1988T>C (p.Met663Thr)
c.890T>C (p.Met297Thr)
c.1793T>C (p.Met598Thr)
c.1898T>C (p.Met633Thr)
17g.44254565A>TCA399782786SLC4A1c.1988T>A (p.Met663Lys)
c.890T>A (p.Met297Lys)
c.1793T>A (p.Met598Lys)
c.1898T>A (p.Met633Lys)
17g.44254566T>ACA399782790SLC4A1c.1987A>T (p.Met663Leu)
c.889A>T (p.Met297Leu)
c.1792A>T (p.Met598Leu)
c.1897A>T (p.Met633Leu)
17g.44254566T>CCA399782792SLC4A1c.1987A>G (p.Met663Val)
c.889A>G (p.Met297Val)
c.1792A>G (p.Met598Val)
c.1897A>G (p.Met633Val)
17g.44254566T>GCA399782795SLC4A1c.1987A>C (p.Met663Leu)
c.889A>C (p.Met297Leu)
c.1792A>C (p.Met598Leu)
c.1897A>C (p.Met633Leu)
17g.44254567C>ACA399782796SLC4A1c.1986G>T (p.Trp662Cys)
c.888G>T (p.Trp296Cys)
c.1791G>T (p.Trp597Cys)
c.1896G>T (p.Trp632Cys)
 ClinVar
17g.44254567C>GCA399782797SLC4A1c.1986G>C (p.Trp662Cys)
c.888G>C (p.Trp296Cys)
c.1791G>C (p.Trp597Cys)
c.1896G>C (p.Trp632Cys)
17g.44254567C>TCA399782798SLC4A1c.1986G>A (p.Trp662Ter)
c.888G>A (p.Trp296Ter)
c.1791G>A (p.Trp597Ter)
c.1896G>A (p.Trp632Ter)
 COSMIC
17g.44254568C>ACA399782800SLC4A1c.1985G>T (p.Trp662Leu)
c.887G>T (p.Trp296Leu)
c.1790G>T (p.Trp597Leu)
c.1895G>T (p.Trp632Leu)
17g.44254568C>GCA399782803SLC4A1c.1985G>C (p.Trp662Ser)
c.887G>C (p.Trp296Ser)
c.1790G>C (p.Trp597Ser)
c.1895G>C (p.Trp632Ser)
17g.44254568C>TCA399782807SLC4A1c.1985G>A (p.Trp662Ter)
c.887G>A (p.Trp296Ter)
c.1790G>A (p.Trp597Ter)
c.1895G>A (p.Trp632Ter)
17g.44254569A>CCA399782811SLC4A1c.1984T>G (p.Trp662Gly)
c.886T>G (p.Trp296Gly)
c.1789T>G (p.Trp597Gly)
c.1894T>G (p.Trp632Gly)
17g.44254569A>GCA399782816SLC4A1c.1984T>C (p.Trp662Arg)
c.886T>C (p.Trp296Arg)
c.1789T>C (p.Trp597Arg)
c.1894T>C (p.Trp632Arg)
17g.44254569A>TCA399782818SLC4A1c.1984T>A (p.Trp662Arg)
c.886T>A (p.Trp296Arg)
c.1789T>A (p.Trp597Arg)
c.1894T>A (p.Trp632Arg)
17g.44254570G>ACA500285541SLC4A1c.1983C>T (p.Ile661=)
c.885C>T (p.Ile295=)
c.1788C>T (p.Ile596=)
c.1893C>T (p.Ile631=)
17g.44254570G>CCA399782828SLC4A1c.1983C>G (p.Ile661Met)
c.885C>G (p.Ile295Met)
c.1788C>G (p.Ile596Met)
c.1893C>G (p.Ile631Met)
17g.44254570G=CA2261308272SLC4A1c.1983C= (p.Ile661=)
c.885C= (p.Ile295=)
c.1788C= (p.Ile596=)
c.1893C= (p.Ile631=)
17g.44254570G>TCA8600151SLC4A1c.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
17g.44254571A=CA2261308273SLC4A1c.1982T= (p.Ile661=)
c.884T= (p.Ile295=)
c.1787T= (p.Ile596=)
c.1892T= (p.Ile631=)
17g.44254571A>CCA399782831SLC4A1c.1982T>G (p.Ile661Ser)
c.884T>G (p.Ile295Ser)
c.1787T>G (p.Ile596Ser)
c.1892T>G (p.Ile631Ser)
17g.44254571A>GCA8600152SLC4A1c.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
17g.44254571A>TCA399782837SLC4A1c.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
17g.44254572T>ACA399782838SLC4A1c.1981A>T (p.Ile661Phe)
c.883A>T (p.Ile295Phe)
c.1786A>T (p.Ile596Phe)
c.1891A>T (p.Ile631Phe)
17g.44254572T>CCA399782840SLC4A1c.1981A>G (p.Ile661Val)
c.883A>G (p.Ile295Val)
c.1786A>G (p.Ile596Val)
c.1891A>G (p.Ile631Val)
17g.44254572T>GCA399782843SLC4A1c.1981A>C (p.Ile661Leu)
c.883A>C (p.Ile295Leu)
c.1786A>C (p.Ile596Leu)
c.1891A>C (p.Ile631Leu)
17g.44254573G>ACA8600153SLC4A1c.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
17g.44254573G>CCA500285553SLC4A1c.1980C>G (p.Pro660=)
c.882C>G (p.Pro294=)
c.1785C>G (p.Pro595=)
c.1890C>G (p.Pro630=)
17g.44254573G=CA2261308274SLC4A1c.1980C= (p.Pro660=)
c.882C= (p.Pro294=)
c.1785C= (p.Pro595=)
c.1890C= (p.Pro630=)
17g.44254573G>TCA500285559SLC4A1c.1980C>A (p.Pro660=)
c.882C>A (p.Pro294=)
c.1785C>A (p.Pro595=)
c.1890C>A (p.Pro630=)
17g.44254574G>ACA399782852SLC4A1c.1979C>T (p.Pro660Leu)
c.881C>T (p.Pro294Leu)
c.1784C>T (p.Pro595Leu)
c.1889C>T (p.Pro630Leu)
17g.44254574G>CCA399782857SLC4A1c.1979C>G (p.Pro660Arg)
c.881C>G (p.Pro294Arg)
c.1784C>G (p.Pro595Arg)
c.1889C>G (p.Pro630Arg)
17g.44254574G>TCA399782872SLC4A1c.1979C>A (p.Pro660His)
c.881C>A (p.Pro294His)
c.1784C>A (p.Pro595His)
c.1889C>A (p.Pro630His)
17g.44254578_44254585delCA2697559955SLC4A1c.1972_1979del (p.Glu658HisfsTer?)
c.874_881del (p.Glu292HisfsTer?)
c.1777_1784del (p.Glu593HisfsTer?)
c.1882_1889del (p.Glu628HisfsTer?)
 ClinVar
17g.44254575G>ACA399782880SLC4A1c.1978C>T (p.Pro660Ser)
c.880C>T (p.Pro294Ser)
c.1783C>T (p.Pro595Ser)
c.1888C>T (p.Pro630Ser)
17g.44254575G>CCA399782881SLC4A1c.1978C>G (p.Pro660Ala)
c.880C>G (p.Pro294Ala)
c.1783C>G (p.Pro595Ala)
c.1888C>G (p.Pro630Ala)
17g.44254575G>TCA399782883SLC4A1c.1978C>A (p.Pro660Thr)
c.880C>A (p.Pro294Thr)
c.1783C>A (p.Pro595Thr)
c.1888C>A (p.Pro630Thr)
17g.44254576A>CCA399782885SLC4A1c.1977T>G (p.Phe659Leu)
c.879T>G (p.Phe293Leu)
c.1782T>G (p.Phe594Leu)
c.1887T>G (p.Phe629Leu)
17g.44254576A>GCA500285564SLC4A1c.1977T>C (p.Phe659=)
c.879T>C (p.Phe293=)
c.1782T>C (p.Phe594=)
c.1887T>C (p.Phe629=)
 gnomAD v4
17g.44254576A>TCA399782887SLC4A1c.1977T>A (p.Phe659Leu)
c.879T>A (p.Phe293Leu)
c.1782T>A (p.Phe594Leu)
c.1887T>A (p.Phe629Leu)
17g.44254577A>CCA399782891SLC4A1c.1976T>G (p.Phe659Cys)
c.878T>G (p.Phe293Cys)
c.1781T>G (p.Phe594Cys)
c.1886T>G (p.Phe629Cys)
17g.44254577A>GCA399782897SLC4A1c.1976T>C (p.Phe659Ser)
c.878T>C (p.Phe293Ser)
c.1781T>C (p.Phe594Ser)
c.1886T>C (p.Phe629Ser)
17g.44254577A>TCA399782894SLC4A1c.1976T>A (p.Phe659Tyr)
c.878T>A (p.Phe293Tyr)
c.1781T>A (p.Phe594Tyr)
c.1886T>A (p.Phe629Tyr)
17g.44254580_44254586delCA2739267570SLC4A1c.1970_1976del (p.Ser657PhefsTer5)
c.872_878del (p.Ser291PhefsTer5)
c.1775_1781del (p.Ser592PhefsTer5)
c.1880_1886del (p.Ser627PhefsTer5)
 ClinVar
17g.44254578A>CCA399782902SLC4A1c.1975T>G (p.Phe659Val)
c.877T>G (p.Phe293Val)
c.1780T>G (p.Phe594Val)
c.1885T>G (p.Phe629Val)
17g.44254578A>GCA399782907SLC4A1c.1975T>C (p.Phe659Leu)
c.877T>C (p.Phe293Leu)
c.1780T>C (p.Phe594Leu)
c.1885T>C (p.Phe629Leu)
17g.44254578A>TCA399782910SLC4A1c.1975T>A (p.Phe659Ile)
c.877T>A (p.Phe293Ile)
c.1780T>A (p.Phe594Ile)
c.1885T>A (p.Phe629Ile)
17g.44254579C>ACA399782914SLC4A1c.1974G>T (p.Glu658Asp)
c.876G>T (p.Glu292Asp)
c.1779G>T (p.Glu593Asp)
c.1884G>T (p.Glu628Asp)
17g.44254579C=CA2261308275SLC4A1c.1974G= (p.Glu658=)
c.876G= (p.Glu292=)
c.1779G= (p.Glu593=)
c.1884G= (p.Glu628=)
17g.44254579C>GCA399782916SLC4A1c.1974G>C (p.Glu658Asp)
c.876G>C (p.Glu292Asp)
c.1779G>C (p.Glu593Asp)
c.1884G>C (p.Glu628Asp)
17g.44254579C>TCA8600154SLC4A1c.1974G>A (p.Glu658=)
c.876G>A (p.Glu292=)
c.1779G>A (p.Glu593=)
c.1884G>A (p.Glu628=)
 dbSNP ExAC gnomAD v4
17g.44254580T>ACA399782929SLC4A1c.1973A>T (p.Glu658Val)
c.875A>T (p.Glu292Val)
c.1778A>T (p.Glu593Val)
c.1883A>T (p.Glu628Val)
17g.44254580T>CCA399782933SLC4A1c.1973A>G (p.Glu658Gly)
c.875A>G (p.Glu292Gly)
c.1778A>G (p.Glu593Gly)
c.1883A>G (p.Glu628Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.44254580T>GCA399782935SLC4A1c.1973A>C (p.Glu658Ala)
c.875A>C (p.Glu292Ala)
c.1778A>C (p.Glu593Ala)
c.1883A>C (p.Glu628Ala)
17g.44254580T=CA2261308276SLC4A1c.1973A= (p.Glu658=)
c.875A= (p.Glu292=)
c.1778A= (p.Glu593=)
c.1883A= (p.Glu628=)
17g.44254581C>ACA399782942SLC4A1c.1972G>T (p.Glu658Ter)
c.874G>T (p.Glu292Ter)
c.1777G>T (p.Glu593Ter)
c.1882G>T (p.Glu628Ter)
17g.44254581C=CA2261308277SLC4A1c.1972G= (p.Glu658=)
c.874G= (p.Glu292=)
c.1777G= (p.Glu593=)
c.1882G= (p.Glu628=)
17g.44254581C>GCA8600155SLC4A1c.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
17g.44254581C>TCA127380SLC4A1c.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
17g.44254582G>ACA8600156SLC4A1c.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
17g.44254582G>CCA500285582SLC4A1c.1971C>G (p.Ser657=)
c.873C>G (p.Ser291=)
c.1776C>G (p.Ser592=)
c.1881C>G (p.Ser627=)
 dbSNP gnomAD v2
17g.44254582G=CA2261308278SLC4A1c.1971C= (p.Ser657=)
c.873C= (p.Ser291=)
c.1776C= (p.Ser592=)
c.1881C= (p.Ser627=)
17g.44254582G>TCA500285583SLC4A1c.1971C>A (p.Ser657=)
c.873C>A (p.Ser291=)
c.1776C>A (p.Ser592=)
c.1881C>A (p.Ser627=)
17g.44254583G>ACA399782964SLC4A1c.1970C>T (p.Ser657Phe)
c.872C>T (p.Ser291Phe)
c.1775C>T (p.Ser592Phe)
c.1880C>T (p.Ser627Phe)
17g.44254583G>CCA399782968SLC4A1c.1970C>G (p.Ser657Cys)
c.872C>G (p.Ser291Cys)
c.1775C>G (p.Ser592Cys)
c.1880C>G (p.Ser627Cys)
17g.44254583G>TCA399782972SLC4A1c.1970C>A (p.Ser657Tyr)
c.872C>A (p.Ser291Tyr)
c.1775C>A (p.Ser592Tyr)
c.1880C>A (p.Ser627Tyr)
17g.44254584A=CA2261308279SLC4A1c.1969T= (p.Ser657=)
c.871T= (p.Ser291=)
c.1774T= (p.Ser592=)
c.1879T= (p.Ser627=)
17g.44254584A>CCA399782973SLC4A1c.1969T>G (p.Ser657Ala)
c.871T>G (p.Ser291Ala)
c.1774T>G (p.Ser592Ala)
c.1879T>G (p.Ser627Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.44254584A>GCA399782974SLC4A1c.1969T>C (p.Ser657Pro)
c.871T>C (p.Ser291Pro)
c.1774T>C (p.Ser592Pro)
c.1879T>C (p.Ser627Pro)
17g.44254584A>TCA399782977SLC4A1c.1969T>A (p.Ser657Thr)
c.871T>A (p.Ser291Thr)
c.1774T>A (p.Ser592Thr)
c.1879T>A (p.Ser627Thr)
 ClinVar

Number of alleles fetched