Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.3228857_3228860delinsTCTCCA2346475208SLC4A11c.2170_2173delinsGAGA (p.Glu724=)
c.2101_2104delinsGAGA (p.Glu701=)
c.2041_2044delinsGAGA (p.Glu681=)
c.2056_2059delinsGAGA (p.Glu686=)
c.2218_2221delinsGAGA (p.Glu740=)
c.2299_2302delinsGAGA (p.Glu767=)
c.*318_*321delinsGAGA (n.*318_*321delinsGAGA)
c.2539_2542delinsGAGA (p.Glu847=)
c.2113_2116delinsGAGA (p.Glu705=)
c.2137_2140delinsGAGA (p.Glu713=)
n.2268_2271delinsGAGA
c.2533_2536delinsGAGA (p.Glu845=)
n.2713_2716delinsGAGA
n.2693_2696delinsGAGA
c.2185_2188delinsGAGA (p.Glu729=)
n.2678_2681delinsGAGA
20g.3228859_3228861delCA9741570SLC4A11c.2170_2172del (p.Glu724del)
c.2101_2103del (p.Glu701del)
c.2041_2043del (p.Glu681del)
c.2056_2058del (p.Glu686del)
c.2218_2220del (p.Glu740del)
c.2299_2301del (p.Glu767del)
c.*318_*320del (n.*318_*320del)
c.2539_2541del (p.Glu847del)
c.2113_2115del (p.Glu705del)
c.2137_2139del (p.Glu713del)
n.2268_2270del
c.2533_2535del (p.Glu845del)
n.2713_2715del
n.2693_2695del
c.2185_2187del (p.Glu729del)
n.2678_2680del
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228860C>ACA408086771SLC4A11c.2170G>T (p.Glu724Ter)
c.2101G>T (p.Glu701Ter)
c.2041G>T (p.Glu681Ter)
c.2056G>T (p.Glu686Ter)
c.2218G>T (p.Glu740Ter)
c.2299G>T (p.Glu767Ter)
c.*318G>T (n.*318G>T)
c.2539G>T (p.Glu847Ter)
c.2113G>T (p.Glu705Ter)
c.2137G>T (p.Glu713Ter)
n.2268G>T
c.2533G>T (p.Glu845Ter)
n.2713G>T
n.2693G>T
c.2185G>T (p.Glu729Ter)
n.2678G>T
20g.3228860C>GCA408086772SLC4A11c.2170G>C (p.Glu724Gln)
c.2101G>C (p.Glu701Gln)
c.2041G>C (p.Glu681Gln)
c.2056G>C (p.Glu686Gln)
c.2218G>C (p.Glu740Gln)
c.2299G>C (p.Glu767Gln)
c.*318G>C (n.*318G>C)
c.2539G>C (p.Glu847Gln)
c.2113G>C (p.Glu705Gln)
c.2137G>C (p.Glu713Gln)
n.2268G>C
c.2533G>C (p.Glu845Gln)
n.2713G>C
n.2693G>C
c.2185G>C (p.Glu729Gln)
n.2678G>C
20g.3228860C>TCA408086775SLC4A11c.2170G>A (p.Glu724Lys)
c.2101G>A (p.Glu701Lys)
c.2041G>A (p.Glu681Lys)
c.2056G>A (p.Glu686Lys)
c.2218G>A (p.Glu740Lys)
c.2299G>A (p.Glu767Lys)
c.*318G>A (n.*318G>A)
c.2539G>A (p.Glu847Lys)
c.2113G>A (p.Glu705Lys)
c.2137G>A (p.Glu713Lys)
n.2268G>A
c.2533G>A (p.Glu845Lys)
n.2713G>A
n.2693G>A
c.2185G>A (p.Glu729Lys)
n.2678G>A
20g.3228861C>ACA509558158SLC4A11c.2169G>T (p.Val723=)
c.2100G>T (p.Val700=)
c.2040G>T (p.Val680=)
c.2055G>T (p.Val685=)
c.2217G>T (p.Val739=)
c.2298G>T (p.Val766=)
c.*317G>T (n.*317G>T)
c.2538G>T (p.Val846=)
c.2112G>T (p.Val704=)
c.2136G>T (p.Val712=)
n.2267G>T
c.2532G>T (p.Val844=)
n.2712G>T
n.2692G>T
c.2184G>T (p.Val728=)
n.2677G>T
20g.3228861C>GCA509558160SLC4A11c.2169G>C (p.Val723=)
c.2100G>C (p.Val700=)
c.2040G>C (p.Val680=)
c.2055G>C (p.Val685=)
c.2217G>C (p.Val739=)
c.2298G>C (p.Val766=)
c.*317G>C (n.*317G>C)
c.2538G>C (p.Val846=)
c.2112G>C (p.Val704=)
c.2136G>C (p.Val712=)
n.2267G>C
c.2532G>C (p.Val844=)
n.2712G>C
n.2692G>C
c.2184G>C (p.Val728=)
n.2677G>C
20g.3228861C>TCA509558161SLC4A11c.2169G>A (p.Val723=)
c.2100G>A (p.Val700=)
c.2040G>A (p.Val680=)
c.2055G>A (p.Val685=)
c.2217G>A (p.Val739=)
c.2298G>A (p.Val766=)
c.*317G>A (n.*317G>A)
c.2538G>A (p.Val846=)
c.2112G>A (p.Val704=)
c.2136G>A (p.Val712=)
n.2267G>A
c.2532G>A (p.Val844=)
n.2712G>A
n.2692G>A
c.2184G>A (p.Val728=)
n.2677G>A
20g.3228862A>CCA408086777SLC4A11c.2168T>G (p.Val723Gly)
c.2099T>G (p.Val700Gly)
c.2039T>G (p.Val680Gly)
c.2054T>G (p.Val685Gly)
c.2216T>G (p.Val739Gly)
c.2297T>G (p.Val766Gly)
c.*316T>G (n.*316T>G)
c.2537T>G (p.Val846Gly)
c.2111T>G (p.Val704Gly)
c.2135T>G (p.Val712Gly)
n.2266T>G
c.2531T>G (p.Val844Gly)
n.2711T>G
n.2691T>G
c.2183T>G (p.Val728Gly)
n.2676T>G
20g.3228862A>GCA408086781SLC4A11c.2168T>C (p.Val723Ala)
c.2099T>C (p.Val700Ala)
c.2039T>C (p.Val680Ala)
c.2054T>C (p.Val685Ala)
c.2216T>C (p.Val739Ala)
c.2297T>C (p.Val766Ala)
c.*316T>C (n.*316T>C)
c.2537T>C (p.Val846Ala)
c.2111T>C (p.Val704Ala)
c.2135T>C (p.Val712Ala)
n.2266T>C
c.2531T>C (p.Val844Ala)
n.2711T>C
n.2691T>C
c.2183T>C (p.Val728Ala)
n.2676T>C
20g.3228862A>TCA408086780SLC4A11c.2168T>A (p.Val723Glu)
c.2099T>A (p.Val700Glu)
c.2039T>A (p.Val680Glu)
c.2054T>A (p.Val685Glu)
c.2216T>A (p.Val739Glu)
c.2297T>A (p.Val766Glu)
c.*316T>A (n.*316T>A)
c.2537T>A (p.Val846Glu)
c.2111T>A (p.Val704Glu)
c.2135T>A (p.Val712Glu)
n.2266T>A
c.2531T>A (p.Val844Glu)
n.2711T>A
n.2691T>A
c.2183T>A (p.Val728Glu)
n.2676T>A
 COSMIC
20g.3228863C>ACA408086783SLC4A11c.2167G>T (p.Val723Leu)
c.2098G>T (p.Val700Leu)
c.2038G>T (p.Val680Leu)
c.2053G>T (p.Val685Leu)
c.2215G>T (p.Val739Leu)
c.2296G>T (p.Val766Leu)
c.*315G>T (n.*315G>T)
c.2536G>T (p.Val846Leu)
c.2110G>T (p.Val704Leu)
c.2134G>T (p.Val712Leu)
n.2265G>T
c.2530G>T (p.Val844Leu)
n.2710G>T
n.2690G>T
c.2182G>T (p.Val728Leu)
n.2675G>T
20g.3228863C>GCA408086784SLC4A11c.2167G>C (p.Val723Leu)
c.2098G>C (p.Val700Leu)
c.2038G>C (p.Val680Leu)
c.2053G>C (p.Val685Leu)
c.2215G>C (p.Val739Leu)
c.2296G>C (p.Val766Leu)
c.*315G>C (n.*315G>C)
c.2536G>C (p.Val846Leu)
c.2110G>C (p.Val704Leu)
c.2134G>C (p.Val712Leu)
n.2265G>C
c.2530G>C (p.Val844Leu)
n.2710G>C
n.2690G>C
c.2182G>C (p.Val728Leu)
n.2675G>C
20g.3228863C>TCA408086786SLC4A11c.2167G>A (p.Val723Met)
c.2098G>A (p.Val700Met)
c.2038G>A (p.Val680Met)
c.2053G>A (p.Val685Met)
c.2215G>A (p.Val739Met)
c.2296G>A (p.Val766Met)
c.*315G>A (n.*315G>A)
c.2536G>A (p.Val846Met)
c.2110G>A (p.Val704Met)
c.2134G>A (p.Val712Met)
n.2265G>A
c.2530G>A (p.Val844Met)
n.2710G>A
n.2690G>A
c.2182G>A (p.Val728Met)
n.2675G>A
20g.3228864A>CCA509558162SLC4A11c.2166T>G (p.Arg722=)
c.2097T>G (p.Arg699=)
c.2037T>G (p.Arg679=)
c.2052T>G (p.Arg684=)
c.2214T>G (p.Arg738=)
c.2295T>G (p.Arg765=)
c.*314T>G (n.*314T>G)
c.2535T>G (p.Arg845=)
c.2109T>G (p.Arg703=)
c.2133T>G (p.Arg711=)
n.2264T>G
c.2529T>G (p.Arg843=)
n.2709T>G
n.2689T>G
c.2181T>G (p.Arg727=)
n.2674T>G
20g.3228864A>GCA509558163SLC4A11c.2166T>C (p.Arg722=)
c.2097T>C (p.Arg699=)
c.2037T>C (p.Arg679=)
c.2052T>C (p.Arg684=)
c.2214T>C (p.Arg738=)
c.2295T>C (p.Arg765=)
c.*314T>C (n.*314T>C)
c.2535T>C (p.Arg845=)
c.2109T>C (p.Arg703=)
c.2133T>C (p.Arg711=)
n.2264T>C
c.2529T>C (p.Arg843=)
n.2709T>C
n.2689T>C
c.2181T>C (p.Arg727=)
n.2674T>C
20g.3228864A>TCA509558164SLC4A11c.2166T>A (p.Arg722=)
c.2097T>A (p.Arg699=)
c.2037T>A (p.Arg679=)
c.2052T>A (p.Arg684=)
c.2214T>A (p.Arg738=)
c.2295T>A (p.Arg765=)
c.*314T>A (n.*314T>A)
c.2535T>A (p.Arg845=)
c.2109T>A (p.Arg703=)
c.2133T>A (p.Arg711=)
n.2264T>A
c.2529T>A (p.Arg843=)
n.2709T>A
n.2689T>A
c.2181T>A (p.Arg727=)
n.2674T>A
20g.3228865C>ACA9741572SLC4A11c.2165G>T (p.Arg722Leu)
c.2096G>T (p.Arg699Leu)
c.2036G>T (p.Arg679Leu)
c.2051G>T (p.Arg684Leu)
c.2213G>T (p.Arg738Leu)
c.2294G>T (p.Arg765Leu)
c.*313G>T (n.*313G>T)
c.2534G>T (p.Arg845Leu)
c.2108G>T (p.Arg703Leu)
c.2132G>T (p.Arg711Leu)
n.2263G>T
c.2528G>T (p.Arg843Leu)
n.2708G>T
n.2688G>T
c.2180G>T (p.Arg727Leu)
n.2673G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228865C=CA2346475209SLC4A11c.2165G= (p.Arg722=)
c.2096G= (p.Arg699=)
c.2036G= (p.Arg679=)
c.2051G= (p.Arg684=)
c.2213G= (p.Arg738=)
c.2294G= (p.Arg765=)
c.*313G= (n.*313G=)
c.2534G= (p.Arg845=)
c.2108G= (p.Arg703=)
c.2132G= (p.Arg711=)
n.2263G=
c.2528G= (p.Arg843=)
n.2708G=
n.2688G=
c.2180G= (p.Arg727=)
n.2673G=
20g.3228865C>GCA408086791SLC4A11c.2165G>C (p.Arg722Pro)
c.2096G>C (p.Arg699Pro)
c.2036G>C (p.Arg679Pro)
c.2051G>C (p.Arg684Pro)
c.2213G>C (p.Arg738Pro)
c.2294G>C (p.Arg765Pro)
c.*313G>C (n.*313G>C)
c.2534G>C (p.Arg845Pro)
c.2108G>C (p.Arg703Pro)
c.2132G>C (p.Arg711Pro)
n.2263G>C
c.2528G>C (p.Arg843Pro)
n.2708G>C
n.2688G>C
c.2180G>C (p.Arg727Pro)
n.2673G>C
 gnomAD v4
20g.3228865C>TCA9741571SLC4A11c.2165G>A (p.Arg722His)
c.2096G>A (p.Arg699His)
c.2036G>A (p.Arg679His)
c.2051G>A (p.Arg684His)
c.2213G>A (p.Arg738His)
c.2294G>A (p.Arg765His)
c.*313G>A (n.*313G>A)
c.2534G>A (p.Arg845His)
c.2108G>A (p.Arg703His)
c.2132G>A (p.Arg711His)
n.2263G>A
c.2528G>A (p.Arg843His)
n.2708G>A
n.2688G>A
c.2180G>A (p.Arg727His)
n.2673G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228866G>ACA9741573SLC4A11c.2164C>T (p.Arg722Cys)
c.2095C>T (p.Arg699Cys)
c.2035C>T (p.Arg679Cys)
c.2050C>T (p.Arg684Cys)
c.2212C>T (p.Arg738Cys)
c.2293C>T (p.Arg765Cys)
c.*312C>T (n.*312C>T)
c.2533C>T (p.Arg845Cys)
c.2107C>T (p.Arg703Cys)
c.2131C>T (p.Arg711Cys)
n.2262C>T
c.2527C>T (p.Arg843Cys)
n.2707C>T
n.2687C>T
c.2179C>T (p.Arg727Cys)
n.2672C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228866G>CCA408086796SLC4A11c.2164C>G (p.Arg722Gly)
c.2095C>G (p.Arg699Gly)
c.2035C>G (p.Arg679Gly)
c.2050C>G (p.Arg684Gly)
c.2212C>G (p.Arg738Gly)
c.2293C>G (p.Arg765Gly)
c.*312C>G (n.*312C>G)
c.2533C>G (p.Arg845Gly)
c.2107C>G (p.Arg703Gly)
c.2131C>G (p.Arg711Gly)
n.2262C>G
c.2527C>G (p.Arg843Gly)
n.2707C>G
n.2687C>G
c.2179C>G (p.Arg727Gly)
n.2672C>G
20g.3228866G=CA2346475210SLC4A11c.2164C= (p.Arg722=)
c.2095C= (p.Arg699=)
c.2035C= (p.Arg679=)
c.2050C= (p.Arg684=)
c.2212C= (p.Arg738=)
c.2293C= (p.Arg765=)
c.*312C= (n.*312C=)
c.2533C= (p.Arg845=)
c.2107C= (p.Arg703=)
c.2131C= (p.Arg711=)
n.2262C=
c.2527C= (p.Arg843=)
n.2707C=
n.2687C=
c.2179C= (p.Arg727=)
n.2672C=
20g.3228866G>TCA408086799SLC4A11c.2164C>A (p.Arg722Ser)
c.2095C>A (p.Arg699Ser)
c.2035C>A (p.Arg679Ser)
c.2050C>A (p.Arg684Ser)
c.2212C>A (p.Arg738Ser)
c.2293C>A (p.Arg765Ser)
c.*312C>A (n.*312C>A)
c.2533C>A (p.Arg845Ser)
c.2107C>A (p.Arg703Ser)
c.2131C>A (p.Arg711Ser)
n.2262C>A
c.2527C>A (p.Arg843Ser)
n.2707C>A
n.2687C>A
c.2179C>A (p.Arg727Ser)
n.2672C>A
 dbSNP gnomAD v3 gnomAD v4
20g.3228867C>ACA408086802SLC4A11c.2163G>T (p.Glu721Asp)
c.2094G>T (p.Glu698Asp)
c.2034G>T (p.Glu678Asp)
c.2049G>T (p.Glu683Asp)
c.2211G>T (p.Glu737Asp)
c.2292G>T (p.Glu764Asp)
c.*311G>T (n.*311G>T)
c.2532G>T (p.Glu844Asp)
c.2106G>T (p.Glu702Asp)
c.2130G>T (p.Glu710Asp)
n.2261G>T
c.2526G>T (p.Glu842Asp)
n.2706G>T
n.2686G>T
c.2178G>T (p.Glu726Asp)
n.2671G>T
20g.3228867C=CA2346475211SLC4A11c.2163G= (p.Glu721=)
c.2094G= (p.Glu698=)
c.2034G= (p.Glu678=)
c.2049G= (p.Glu683=)
c.2211G= (p.Glu737=)
c.2292G= (p.Glu764=)
c.*311G= (n.*311G=)
c.2532G= (p.Glu844=)
c.2106G= (p.Glu702=)
c.2130G= (p.Glu710=)
n.2261G=
c.2526G= (p.Glu842=)
n.2706G=
n.2686G=
c.2178G= (p.Glu726=)
n.2671G=
20g.3228867C>GCA408086804SLC4A11c.2163G>C (p.Glu721Asp)
c.2094G>C (p.Glu698Asp)
c.2034G>C (p.Glu678Asp)
c.2049G>C (p.Glu683Asp)
c.2211G>C (p.Glu737Asp)
c.2292G>C (p.Glu764Asp)
c.*311G>C (n.*311G>C)
c.2532G>C (p.Glu844Asp)
c.2106G>C (p.Glu702Asp)
c.2130G>C (p.Glu710Asp)
n.2261G>C
c.2526G>C (p.Glu842Asp)
n.2706G>C
n.2686G>C
c.2178G>C (p.Glu726Asp)
n.2671G>C
20g.3228867C>TCA509558166SLC4A11c.2163G>A (p.Glu721=)
c.2094G>A (p.Glu698=)
c.2034G>A (p.Glu678=)
c.2049G>A (p.Glu683=)
c.2211G>A (p.Glu737=)
c.2292G>A (p.Glu764=)
c.*311G>A (n.*311G>A)
c.2532G>A (p.Glu844=)
c.2106G>A (p.Glu702=)
c.2130G>A (p.Glu710=)
n.2261G>A
c.2526G>A (p.Glu842=)
n.2706G>A
n.2686G>A
c.2178G>A (p.Glu726=)
n.2671G>A
 dbSNP gnomAD v2 gnomAD v4
20g.3228868T>ACA408086811SLC4A11c.2162A>T (p.Glu721Val)
c.2093A>T (p.Glu698Val)
c.2033A>T (p.Glu678Val)
c.2048A>T (p.Glu683Val)
c.2210A>T (p.Glu737Val)
c.2291A>T (p.Glu764Val)
c.*310A>T (n.*310A>T)
c.2531A>T (p.Glu844Val)
c.2105A>T (p.Glu702Val)
c.2129A>T (p.Glu710Val)
n.2260A>T
c.2525A>T (p.Glu842Val)
n.2705A>T
n.2685A>T
c.2177A>T (p.Glu726Val)
n.2670A>T
20g.3228868T>CCA408086810SLC4A11c.2162A>G (p.Glu721Gly)
c.2093A>G (p.Glu698Gly)
c.2033A>G (p.Glu678Gly)
c.2048A>G (p.Glu683Gly)
c.2210A>G (p.Glu737Gly)
c.2291A>G (p.Glu764Gly)
c.*310A>G (n.*310A>G)
c.2531A>G (p.Glu844Gly)
c.2105A>G (p.Glu702Gly)
c.2129A>G (p.Glu710Gly)
n.2260A>G
c.2525A>G (p.Glu842Gly)
n.2705A>G
n.2685A>G
c.2177A>G (p.Glu726Gly)
n.2670A>G
20g.3228868T>GCA408086808SLC4A11c.2162A>C (p.Glu721Ala)
c.2093A>C (p.Glu698Ala)
c.2033A>C (p.Glu678Ala)
c.2048A>C (p.Glu683Ala)
c.2210A>C (p.Glu737Ala)
c.2291A>C (p.Glu764Ala)
c.*310A>C (n.*310A>C)
c.2531A>C (p.Glu844Ala)
c.2105A>C (p.Glu702Ala)
c.2129A>C (p.Glu710Ala)
n.2260A>C
c.2525A>C (p.Glu842Ala)
n.2705A>C
n.2685A>C
c.2177A>C (p.Glu726Ala)
n.2670A>C
20g.3228869C>ACA408086814SLC4A11c.2161G>T (p.Glu721Ter)
c.2092G>T (p.Glu698Ter)
c.2032G>T (p.Glu678Ter)
c.2047G>T (p.Glu683Ter)
c.2209G>T (p.Glu737Ter)
c.2290G>T (p.Glu764Ter)
c.*309G>T (n.*309G>T)
c.2530G>T (p.Glu844Ter)
c.2104G>T (p.Glu702Ter)
c.2128G>T (p.Glu710Ter)
n.2259G>T
c.2524G>T (p.Glu842Ter)
n.2704G>T
n.2684G>T
c.2176G>T (p.Glu726Ter)
n.2669G>T
20g.3228869C=CA2346475212SLC4A11c.2161G= (p.Glu721=)
c.2092G= (p.Glu698=)
c.2032G= (p.Glu678=)
c.2047G= (p.Glu683=)
c.2209G= (p.Glu737=)
c.2290G= (p.Glu764=)
c.*309G= (n.*309G=)
c.2530G= (p.Glu844=)
c.2104G= (p.Glu702=)
c.2128G= (p.Glu710=)
n.2259G=
c.2524G= (p.Glu842=)
n.2704G=
n.2684G=
c.2176G= (p.Glu726=)
n.2669G=
20g.3228869C>GCA408086813SLC4A11c.2161G>C (p.Glu721Gln)
c.2092G>C (p.Glu698Gln)
c.2032G>C (p.Glu678Gln)
c.2047G>C (p.Glu683Gln)
c.2209G>C (p.Glu737Gln)
c.2290G>C (p.Glu764Gln)
c.*309G>C (n.*309G>C)
c.2530G>C (p.Glu844Gln)
c.2104G>C (p.Glu702Gln)
c.2128G>C (p.Glu710Gln)
n.2259G>C
c.2524G>C (p.Glu842Gln)
n.2704G>C
n.2684G>C
c.2176G>C (p.Glu726Gln)
n.2669G>C
20g.3228869C>TCA408086816SLC4A11c.2161G>A (p.Glu721Lys)
c.2092G>A (p.Glu698Lys)
c.2032G>A (p.Glu678Lys)
c.2047G>A (p.Glu683Lys)
c.2209G>A (p.Glu737Lys)
c.2290G>A (p.Glu764Lys)
c.*309G>A (n.*309G>A)
c.2530G>A (p.Glu844Lys)
c.2104G>A (p.Glu702Lys)
c.2128G>A (p.Glu710Lys)
n.2259G>A
c.2524G>A (p.Glu842Lys)
n.2704G>A
n.2684G>A
c.2176G>A (p.Glu726Lys)
n.2669G>A
 dbSNP gnomAD v2
20g.3228870C>ACA408086818SLC4A11c.2160G>T (p.Glu720Asp)
c.2091G>T (p.Glu697Asp)
c.2031G>T (p.Glu677Asp)
c.2046G>T (p.Glu682Asp)
c.2208G>T (p.Glu736Asp)
c.2289G>T (p.Glu763Asp)
c.*308G>T (n.*308G>T)
c.2529G>T (p.Glu843Asp)
c.2103G>T (p.Glu701Asp)
c.2127G>T (p.Glu709Asp)
n.2258G>T
c.2523G>T (p.Glu841Asp)
n.2703G>T
n.2683G>T
c.2175G>T (p.Glu725Asp)
n.2668G>T
20g.3228870C=CA2346475213SLC4A11c.2160G= (p.Glu720=)
c.2091G= (p.Glu697=)
c.2031G= (p.Glu677=)
c.2046G= (p.Glu682=)
c.2208G= (p.Glu736=)
c.2289G= (p.Glu763=)
c.*308G= (n.*308G=)
c.2529G= (p.Glu843=)
c.2103G= (p.Glu701=)
c.2127G= (p.Glu709=)
n.2258G=
c.2523G= (p.Glu841=)
n.2703G=
n.2683G=
c.2175G= (p.Glu725=)
n.2668G=
20g.3228870C>GCA408086819SLC4A11c.2160G>C (p.Glu720Asp)
c.2091G>C (p.Glu697Asp)
c.2031G>C (p.Glu677Asp)
c.2046G>C (p.Glu682Asp)
c.2208G>C (p.Glu736Asp)
c.2289G>C (p.Glu763Asp)
c.*308G>C (n.*308G>C)
c.2529G>C (p.Glu843Asp)
c.2103G>C (p.Glu701Asp)
c.2127G>C (p.Glu709Asp)
n.2258G>C
c.2523G>C (p.Glu841Asp)
n.2703G>C
n.2683G>C
c.2175G>C (p.Glu725Asp)
n.2668G>C
 gnomAD v4
20g.3228870C>TCA509558168SLC4A11c.2160G>A (p.Glu720=)
c.2091G>A (p.Glu697=)
c.2031G>A (p.Glu677=)
c.2046G>A (p.Glu682=)
c.2208G>A (p.Glu736=)
c.2289G>A (p.Glu763=)
c.*308G>A (n.*308G>A)
c.2529G>A (p.Glu843=)
c.2103G>A (p.Glu701=)
c.2127G>A (p.Glu709=)
n.2258G>A
c.2523G>A (p.Glu841=)
n.2703G>A
n.2683G>A
c.2175G>A (p.Glu725=)
n.2668G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.3228871T>ACA408086821SLC4A11c.2159A>T (p.Glu720Val)
c.2090A>T (p.Glu697Val)
c.2030A>T (p.Glu677Val)
c.2045A>T (p.Glu682Val)
c.2207A>T (p.Glu736Val)
c.2288A>T (p.Glu763Val)
c.*307A>T (n.*307A>T)
c.2528A>T (p.Glu843Val)
c.2102A>T (p.Glu701Val)
c.2126A>T (p.Glu709Val)
n.2257A>T
c.2522A>T (p.Glu841Val)
n.2702A>T
n.2682A>T
c.2174A>T (p.Glu725Val)
n.2667A>T
20g.3228871T>CCA310985850SLC4A11c.2159A>G (p.Glu720Gly)
c.2090A>G (p.Glu697Gly)
c.2030A>G (p.Glu677Gly)
c.2045A>G (p.Glu682Gly)
c.2207A>G (p.Glu736Gly)
c.2288A>G (p.Glu763Gly)
c.*307A>G (n.*307A>G)
c.2528A>G (p.Glu843Gly)
c.2102A>G (p.Glu701Gly)
c.2126A>G (p.Glu709Gly)
n.2257A>G
c.2522A>G (p.Glu841Gly)
n.2702A>G
n.2682A>G
c.2174A>G (p.Glu725Gly)
n.2667A>G
 dbSNP gnomAD v2 gnomAD v4
20g.3228871T>GCA408086824SLC4A11c.2159A>C (p.Glu720Ala)
c.2090A>C (p.Glu697Ala)
c.2030A>C (p.Glu677Ala)
c.2045A>C (p.Glu682Ala)
c.2207A>C (p.Glu736Ala)
c.2288A>C (p.Glu763Ala)
c.*307A>C (n.*307A>C)
c.2528A>C (p.Glu843Ala)
c.2102A>C (p.Glu701Ala)
c.2126A>C (p.Glu709Ala)
n.2257A>C
c.2522A>C (p.Glu841Ala)
n.2702A>C
n.2682A>C
c.2174A>C (p.Glu725Ala)
n.2667A>C
20g.3228871T=CA2346475214SLC4A11c.2159A= (p.Glu720=)
c.2090A= (p.Glu697=)
c.2030A= (p.Glu677=)
c.2045A= (p.Glu682=)
c.2207A= (p.Glu736=)
c.2288A= (p.Glu763=)
c.*307A= (n.*307A=)
c.2528A= (p.Glu843=)
c.2102A= (p.Glu701=)
c.2126A= (p.Glu709=)
n.2257A=
c.2522A= (p.Glu841=)
n.2702A=
n.2682A=
c.2174A= (p.Glu725=)
n.2667A=
20g.3228872C>ACA408086827SLC4A11c.2158G>T (p.Glu720Ter)
c.2089G>T (p.Glu697Ter)
c.2029G>T (p.Glu677Ter)
c.2044G>T (p.Glu682Ter)
c.2206G>T (p.Glu736Ter)
c.2287G>T (p.Glu763Ter)
c.*306G>T (n.*306G>T)
c.2527G>T (p.Glu843Ter)
c.2101G>T (p.Glu701Ter)
c.2125G>T (p.Glu709Ter)
n.2256G>T
c.2521G>T (p.Glu841Ter)
n.2701G>T
n.2681G>T
c.2173G>T (p.Glu725Ter)
n.2666G>T
 ClinVar dbSNP
20g.3228872C=CA2346475215SLC4A11c.2158G= (p.Glu720=)
c.2089G= (p.Glu697=)
c.2029G= (p.Glu677=)
c.2044G= (p.Glu682=)
c.2206G= (p.Glu736=)
c.2287G= (p.Glu763=)
c.*306G= (n.*306G=)
c.2527G= (p.Glu843=)
c.2101G= (p.Glu701=)
c.2125G= (p.Glu709=)
n.2256G=
c.2521G= (p.Glu841=)
n.2701G=
n.2681G=
c.2173G= (p.Glu725=)
n.2666G=
20g.3228872C>GCA408086829SLC4A11c.2158G>C (p.Glu720Gln)
c.2089G>C (p.Glu697Gln)
c.2029G>C (p.Glu677Gln)
c.2044G>C (p.Glu682Gln)
c.2206G>C (p.Glu736Gln)
c.2287G>C (p.Glu763Gln)
c.*306G>C (n.*306G>C)
c.2527G>C (p.Glu843Gln)
c.2101G>C (p.Glu701Gln)
c.2125G>C (p.Glu709Gln)
n.2256G>C
c.2521G>C (p.Glu841Gln)
n.2701G>C
n.2681G>C
c.2173G>C (p.Glu725Gln)
n.2666G>C
 gnomAD v4
20g.3228872C>TCA408086832SLC4A11c.2158G>A (p.Glu720Lys)
c.2089G>A (p.Glu697Lys)
c.2029G>A (p.Glu677Lys)
c.2044G>A (p.Glu682Lys)
c.2206G>A (p.Glu736Lys)
c.2287G>A (p.Glu763Lys)
c.*306G>A (n.*306G>A)
c.2527G>A (p.Glu843Lys)
c.2101G>A (p.Glu701Lys)
c.2125G>A (p.Glu709Lys)
n.2256G>A
c.2521G>A (p.Glu841Lys)
n.2701G>A
n.2681G>A
c.2173G>A (p.Glu725Lys)
n.2666G>A
 gnomAD v4
20g.3228873C>ACA509558171SLC4A11c.2157G>T (p.Val719=)
c.2088G>T (p.Val696=)
c.2028G>T (p.Val676=)
c.2043G>T (p.Val681=)
c.2205G>T (p.Val735=)
c.2286G>T (p.Val762=)
c.*305G>T (n.*305G>T)
c.2526G>T (p.Val842=)
c.2100G>T (p.Val700=)
c.2124G>T (p.Val708=)
n.2255G>T
c.2520G>T (p.Val840=)
n.2700G>T
n.2680G>T
c.2172G>T (p.Val724=)
n.2665G>T
20g.3228873C=CA2346475216SLC4A11c.2157G= (p.Val719=)
c.2088G= (p.Val696=)
c.2028G= (p.Val676=)
c.2043G= (p.Val681=)
c.2205G= (p.Val735=)
c.2286G= (p.Val762=)
c.*305G= (n.*305G=)
c.2526G= (p.Val842=)
c.2100G= (p.Val700=)
c.2124G= (p.Val708=)
n.2255G=
c.2520G= (p.Val840=)
n.2700G=
n.2680G=
c.2172G= (p.Val724=)
n.2665G=
20g.3228873C>GCA509558173SLC4A11c.2157G>C (p.Val719=)
c.2088G>C (p.Val696=)
c.2028G>C (p.Val676=)
c.2043G>C (p.Val681=)
c.2205G>C (p.Val735=)
c.2286G>C (p.Val762=)
c.*305G>C (n.*305G>C)
c.2526G>C (p.Val842=)
c.2100G>C (p.Val700=)
c.2124G>C (p.Val708=)
n.2255G>C
c.2520G>C (p.Val840=)
n.2700G>C
n.2680G>C
c.2172G>C (p.Val724=)
n.2665G>C
20g.3228873C>TCA509558172SLC4A11c.2157G>A (p.Val719=)
c.2088G>A (p.Val696=)
c.2028G>A (p.Val676=)
c.2043G>A (p.Val681=)
c.2205G>A (p.Val735=)
c.2286G>A (p.Val762=)
c.*305G>A (n.*305G>A)
c.2526G>A (p.Val842=)
c.2100G>A (p.Val700=)
c.2124G>A (p.Val708=)
n.2255G>A
c.2520G>A (p.Val840=)
n.2700G>A
n.2680G>A
c.2172G>A (p.Val724=)
n.2665G>A
 dbSNP gnomAD v3 gnomAD v4
20g.3228874A>CCA408086834SLC4A11c.2156T>G (p.Val719Gly)
c.2087T>G (p.Val696Gly)
c.2027T>G (p.Val676Gly)
c.2042T>G (p.Val681Gly)
c.2204T>G (p.Val735Gly)
c.2285T>G (p.Val762Gly)
c.*304T>G (n.*304T>G)
c.2525T>G (p.Val842Gly)
c.2099T>G (p.Val700Gly)
c.2123T>G (p.Val708Gly)
n.2254T>G
c.2519T>G (p.Val840Gly)
n.2699T>G
n.2679T>G
c.2171T>G (p.Val724Gly)
n.2664T>G
20g.3228874A>GCA408086837SLC4A11c.2156T>C (p.Val719Ala)
c.2087T>C (p.Val696Ala)
c.2027T>C (p.Val676Ala)
c.2042T>C (p.Val681Ala)
c.2204T>C (p.Val735Ala)
c.2285T>C (p.Val762Ala)
c.*304T>C (n.*304T>C)
c.2525T>C (p.Val842Ala)
c.2099T>C (p.Val700Ala)
c.2123T>C (p.Val708Ala)
n.2254T>C
c.2519T>C (p.Val840Ala)
n.2699T>C
n.2679T>C
c.2171T>C (p.Val724Ala)
n.2664T>C
20g.3228874A>TCA408086839SLC4A11c.2156T>A (p.Val719Glu)
c.2087T>A (p.Val696Glu)
c.2027T>A (p.Val676Glu)
c.2042T>A (p.Val681Glu)
c.2204T>A (p.Val735Glu)
c.2285T>A (p.Val762Glu)
c.*304T>A (n.*304T>A)
c.2525T>A (p.Val842Glu)
c.2099T>A (p.Val700Glu)
c.2123T>A (p.Val708Glu)
n.2254T>A
c.2519T>A (p.Val840Glu)
n.2699T>A
n.2679T>A
c.2171T>A (p.Val724Glu)
n.2664T>A
20g.3228875C>ACA408086846SLC4A11c.2155G>T (p.Val719Leu)
c.2086G>T (p.Val696Leu)
c.2026G>T (p.Val676Leu)
c.2041G>T (p.Val681Leu)
c.2203G>T (p.Val735Leu)
c.2284G>T (p.Val762Leu)
c.*303G>T (n.*303G>T)
c.2524G>T (p.Val842Leu)
c.2098G>T (p.Val700Leu)
c.2122G>T (p.Val708Leu)
n.2253G>T
c.2518G>T (p.Val840Leu)
n.2698G>T
n.2678G>T
c.2170G>T (p.Val724Leu)
n.2663G>T
20g.3228875C>GCA408086844SLC4A11c.2155G>C (p.Val719Leu)
c.2086G>C (p.Val696Leu)
c.2026G>C (p.Val676Leu)
c.2041G>C (p.Val681Leu)
c.2203G>C (p.Val735Leu)
c.2284G>C (p.Val762Leu)
c.*303G>C (n.*303G>C)
c.2524G>C (p.Val842Leu)
c.2098G>C (p.Val700Leu)
c.2122G>C (p.Val708Leu)
n.2253G>C
c.2518G>C (p.Val840Leu)
n.2698G>C
n.2678G>C
c.2170G>C (p.Val724Leu)
n.2663G>C
20g.3228875C>TCA408086842SLC4A11c.2155G>A (p.Val719Met)
c.2086G>A (p.Val696Met)
c.2026G>A (p.Val676Met)
c.2041G>A (p.Val681Met)
c.2203G>A (p.Val735Met)
c.2284G>A (p.Val762Met)
c.*303G>A (n.*303G>A)
c.2524G>A (p.Val842Met)
c.2098G>A (p.Val700Met)
c.2122G>A (p.Val708Met)
n.2253G>A
c.2518G>A (p.Val840Met)
n.2698G>A
n.2678G>A
c.2170G>A (p.Val724Met)
n.2663G>A
20g.3228876T>ACA408086847SLC4A11c.2154A>T (p.Leu718Phe)
c.2085A>T (p.Leu695Phe)
c.2025A>T (p.Leu675Phe)
c.2040A>T (p.Leu680Phe)
c.2202A>T (p.Leu734Phe)
c.2283A>T (p.Leu761Phe)
c.*302A>T (n.*302A>T)
c.2523A>T (p.Leu841Phe)
c.2097A>T (p.Leu699Phe)
c.2121A>T (p.Leu707Phe)
n.2252A>T
c.2517A>T (p.Leu839Phe)
n.2697A>T
n.2677A>T
c.2169A>T (p.Leu723Phe)
n.2662A>T
20g.3228876T>CCA509558176SLC4A11c.2154A>G (p.Leu718=)
c.2085A>G (p.Leu695=)
c.2025A>G (p.Leu675=)
c.2040A>G (p.Leu680=)
c.2202A>G (p.Leu734=)
c.2283A>G (p.Leu761=)
c.*302A>G (n.*302A>G)
c.2523A>G (p.Leu841=)
c.2097A>G (p.Leu699=)
c.2121A>G (p.Leu707=)
n.2252A>G
c.2517A>G (p.Leu839=)
n.2697A>G
n.2677A>G
c.2169A>G (p.Leu723=)
n.2662A>G
 ClinVar
20g.3228876T>GCA408086849SLC4A11c.2154A>C (p.Leu718Phe)
c.2085A>C (p.Leu695Phe)
c.2025A>C (p.Leu675Phe)
c.2040A>C (p.Leu680Phe)
c.2202A>C (p.Leu734Phe)
c.2283A>C (p.Leu761Phe)
c.*302A>C (n.*302A>C)
c.2523A>C (p.Leu841Phe)
c.2097A>C (p.Leu699Phe)
c.2121A>C (p.Leu707Phe)
n.2252A>C
c.2517A>C (p.Leu839Phe)
n.2697A>C
n.2677A>C
c.2169A>C (p.Leu723Phe)
n.2662A>C
20g.3228877A>CCA408086851SLC4A11c.2153T>G (p.Leu718Ter)
c.2084T>G (p.Leu695Ter)
c.2024T>G (p.Leu675Ter)
c.2039T>G (p.Leu680Ter)
c.2201T>G (p.Leu734Ter)
c.2282T>G (p.Leu761Ter)
c.*301T>G (n.*301T>G)
c.2522T>G (p.Leu841Ter)
c.2096T>G (p.Leu699Ter)
c.2120T>G (p.Leu707Ter)
n.2251T>G
c.2516T>G (p.Leu839Ter)
n.2696T>G
n.2676T>G
c.2168T>G (p.Leu723Ter)
n.2661T>G
20g.3228877A>GCA408086852SLC4A11c.2153T>C (p.Leu718Ser)
c.2084T>C (p.Leu695Ser)
c.2024T>C (p.Leu675Ser)
c.2039T>C (p.Leu680Ser)
c.2201T>C (p.Leu734Ser)
c.2282T>C (p.Leu761Ser)
c.*301T>C (n.*301T>C)
c.2522T>C (p.Leu841Ser)
c.2096T>C (p.Leu699Ser)
c.2120T>C (p.Leu707Ser)
n.2251T>C
c.2516T>C (p.Leu839Ser)
n.2696T>C
n.2676T>C
c.2168T>C (p.Leu723Ser)
n.2661T>C
20g.3228877A>TCA408086855SLC4A11c.2153T>A (p.Leu718Ter)
c.2084T>A (p.Leu695Ter)
c.2024T>A (p.Leu675Ter)
c.2039T>A (p.Leu680Ter)
c.2201T>A (p.Leu734Ter)
c.2282T>A (p.Leu761Ter)
c.*301T>A (n.*301T>A)
c.2522T>A (p.Leu841Ter)
c.2096T>A (p.Leu699Ter)
c.2120T>A (p.Leu707Ter)
n.2251T>A
c.2516T>A (p.Leu839Ter)
n.2696T>A
n.2676T>A
c.2168T>A (p.Leu723Ter)
n.2661T>A
20g.3228878A>CCA408086858SLC4A11c.2152T>G (p.Leu718Val)
c.2083T>G (p.Leu695Val)
c.2023T>G (p.Leu675Val)
c.2038T>G (p.Leu680Val)
c.2200T>G (p.Leu734Val)
c.2281T>G (p.Leu761Val)
c.*300T>G (n.*300T>G)
c.2521T>G (p.Leu841Val)
c.2095T>G (p.Leu699Val)
c.2119T>G (p.Leu707Val)
n.2250T>G
c.2515T>G (p.Leu839Val)
n.2695T>G
n.2675T>G
c.2167T>G (p.Leu723Val)
n.2660T>G
20g.3228878A>GCA509558177SLC4A11c.2152T>C (p.Leu718=)
c.2083T>C (p.Leu695=)
c.2023T>C (p.Leu675=)
c.2038T>C (p.Leu680=)
c.2200T>C (p.Leu734=)
c.2281T>C (p.Leu761=)
c.*300T>C (n.*300T>C)
c.2521T>C (p.Leu841=)
c.2095T>C (p.Leu699=)
c.2119T>C (p.Leu707=)
n.2250T>C
c.2515T>C (p.Leu839=)
n.2695T>C
n.2675T>C
c.2167T>C (p.Leu723=)
n.2660T>C
20g.3228878A>TCA408086860SLC4A11c.2152T>A (p.Leu718Ile)
c.2083T>A (p.Leu695Ile)
c.2023T>A (p.Leu675Ile)
c.2038T>A (p.Leu680Ile)
c.2200T>A (p.Leu734Ile)
c.2281T>A (p.Leu761Ile)
c.*300T>A (n.*300T>A)
c.2521T>A (p.Leu841Ile)
c.2095T>A (p.Leu699Ile)
c.2119T>A (p.Leu707Ile)
n.2250T>A
c.2515T>A (p.Leu839Ile)
n.2695T>A
n.2675T>A
c.2167T>A (p.Leu723Ile)
n.2660T>A
20g.3228879G>ACA509558178SLC4A11c.2151C>T (p.Ala717=)
c.2082C>T (p.Ala694=)
c.2022C>T (p.Ala674=)
c.2037C>T (p.Ala679=)
c.2199C>T (p.Ala733=)
c.2280C>T (p.Ala760=)
c.*299C>T (n.*299C>T)
c.2520C>T (p.Ala840=)
c.2094C>T (p.Ala698=)
c.2118C>T (p.Ala706=)
n.2249C>T
c.2514C>T (p.Ala838=)
n.2694C>T
n.2674C>T
c.2166C>T (p.Ala722=)
n.2659C>T
 gnomAD v4
20g.3228879G>CCA9741574SLC4A11c.2151C>G (p.Ala717=)
c.2082C>G (p.Ala694=)
c.2022C>G (p.Ala674=)
c.2037C>G (p.Ala679=)
c.2199C>G (p.Ala733=)
c.2280C>G (p.Ala760=)
c.*299C>G (n.*299C>G)
c.2520C>G (p.Ala840=)
c.2094C>G (p.Ala698=)
c.2118C>G (p.Ala706=)
n.2249C>G
c.2514C>G (p.Ala838=)
n.2694C>G
n.2674C>G
c.2166C>G (p.Ala722=)
n.2659C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228879G=CA2346475217SLC4A11c.2151C= (p.Ala717=)
c.2082C= (p.Ala694=)
c.2022C= (p.Ala674=)
c.2037C= (p.Ala679=)
c.2199C= (p.Ala733=)
c.2280C= (p.Ala760=)
c.*299C= (n.*299C=)
c.2520C= (p.Ala840=)
c.2094C= (p.Ala698=)
c.2118C= (p.Ala706=)
n.2249C=
c.2514C= (p.Ala838=)
n.2694C=
n.2674C=
c.2166C= (p.Ala722=)
n.2659C=
20g.3228879G>TCA9741575SLC4A11c.2151C>A (p.Ala717=)
c.2082C>A (p.Ala694=)
c.2022C>A (p.Ala674=)
c.2037C>A (p.Ala679=)
c.2199C>A (p.Ala733=)
c.2280C>A (p.Ala760=)
c.*299C>A (n.*299C>A)
c.2520C>A (p.Ala840=)
c.2094C>A (p.Ala698=)
c.2118C>A (p.Ala706=)
n.2249C>A
c.2514C>A (p.Ala838=)
n.2694C>A
n.2674C>A
c.2166C>A (p.Ala722=)
n.2659C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228880G>ACA408086866SLC4A11c.2150C>T (p.Ala717Val)
c.2081C>T (p.Ala694Val)
c.2021C>T (p.Ala674Val)
c.2036C>T (p.Ala679Val)
c.2198C>T (p.Ala733Val)
c.2279C>T (p.Ala760Val)
c.*298C>T (n.*298C>T)
c.2519C>T (p.Ala840Val)
c.2093C>T (p.Ala698Val)
c.2117C>T (p.Ala706Val)
n.2248C>T
c.2513C>T (p.Ala838Val)
n.2693C>T
n.2673C>T
c.2165C>T (p.Ala722Val)
n.2658C>T
20g.3228880G>CCA408086868SLC4A11c.2150C>G (p.Ala717Gly)
c.2081C>G (p.Ala694Gly)
c.2021C>G (p.Ala674Gly)
c.2036C>G (p.Ala679Gly)
c.2198C>G (p.Ala733Gly)
c.2279C>G (p.Ala760Gly)
c.*298C>G (n.*298C>G)
c.2519C>G (p.Ala840Gly)
c.2093C>G (p.Ala698Gly)
c.2117C>G (p.Ala706Gly)
n.2248C>G
c.2513C>G (p.Ala838Gly)
n.2693C>G
n.2673C>G
c.2165C>G (p.Ala722Gly)
n.2658C>G
20g.3228880G>TCA408086870SLC4A11c.2150C>A (p.Ala717Asp)
c.2081C>A (p.Ala694Asp)
c.2021C>A (p.Ala674Asp)
c.2036C>A (p.Ala679Asp)
c.2198C>A (p.Ala733Asp)
c.2279C>A (p.Ala760Asp)
c.*298C>A (n.*298C>A)
c.2519C>A (p.Ala840Asp)
c.2093C>A (p.Ala698Asp)
c.2117C>A (p.Ala706Asp)
n.2248C>A
c.2513C>A (p.Ala838Asp)
n.2693C>A
n.2673C>A
c.2165C>A (p.Ala722Asp)
n.2658C>A
20g.3228881C>ACA408086876SLC4A11c.2149G>T (p.Ala717Ser)
c.2080G>T (p.Ala694Ser)
c.2020G>T (p.Ala674Ser)
c.2035G>T (p.Ala679Ser)
c.2197G>T (p.Ala733Ser)
c.2278G>T (p.Ala760Ser)
c.*297G>T (n.*297G>T)
c.2518G>T (p.Ala840Ser)
c.2092G>T (p.Ala698Ser)
c.2116G>T (p.Ala706Ser)
n.2247G>T
c.2512G>T (p.Ala838Ser)
n.2692G>T
n.2672G>T
c.2164G>T (p.Ala722Ser)
n.2657G>T
20g.3228881C>GCA408086878SLC4A11c.2149G>C (p.Ala717Pro)
c.2080G>C (p.Ala694Pro)
c.2020G>C (p.Ala674Pro)
c.2035G>C (p.Ala679Pro)
c.2197G>C (p.Ala733Pro)
c.2278G>C (p.Ala760Pro)
c.*297G>C (n.*297G>C)
c.2518G>C (p.Ala840Pro)
c.2092G>C (p.Ala698Pro)
c.2116G>C (p.Ala706Pro)
n.2247G>C
c.2512G>C (p.Ala838Pro)
n.2692G>C
n.2672G>C
c.2164G>C (p.Ala722Pro)
n.2657G>C
20g.3228881C>TCA408086873SLC4A11c.2149G>A (p.Ala717Thr)
c.2080G>A (p.Ala694Thr)
c.2020G>A (p.Ala674Thr)
c.2035G>A (p.Ala679Thr)
c.2197G>A (p.Ala733Thr)
c.2278G>A (p.Ala760Thr)
c.*297G>A (n.*297G>A)
c.2518G>A (p.Ala840Thr)
c.2092G>A (p.Ala698Thr)
c.2116G>A (p.Ala706Thr)
n.2247G>A
c.2512G>A (p.Ala838Thr)
n.2692G>A
n.2672G>A
c.2164G>A (p.Ala722Thr)
n.2657G>A
20g.3228882C>ACA9741576SLC4A11c.2148G>T (p.Leu716=)
c.2079G>T (p.Leu693=)
c.2019G>T (p.Leu673=)
c.2034G>T (p.Leu678=)
c.2196G>T (p.Leu732=)
c.2277G>T (p.Leu759=)
c.*296G>T (n.*296G>T)
c.2517G>T (p.Leu839=)
c.2091G>T (p.Leu697=)
c.2115G>T (p.Leu705=)
n.2246G>T
c.2511G>T (p.Leu837=)
n.2691G>T
n.2671G>T
c.2163G>T (p.Leu721=)
n.2656G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228882C=CA2346475218SLC4A11c.2148G= (p.Leu716=)
c.2079G= (p.Leu693=)
c.2019G= (p.Leu673=)
c.2034G= (p.Leu678=)
c.2196G= (p.Leu732=)
c.2277G= (p.Leu759=)
c.*296G= (n.*296G=)
c.2517G= (p.Leu839=)
c.2091G= (p.Leu697=)
c.2115G= (p.Leu705=)
n.2246G=
c.2511G= (p.Leu837=)
n.2691G=
n.2671G=
c.2163G= (p.Leu721=)
n.2656G=
20g.3228882C>GCA509558180SLC4A11c.2148G>C (p.Leu716=)
c.2079G>C (p.Leu693=)
c.2019G>C (p.Leu673=)
c.2034G>C (p.Leu678=)
c.2196G>C (p.Leu732=)
c.2277G>C (p.Leu759=)
c.*296G>C (n.*296G>C)
c.2517G>C (p.Leu839=)
c.2091G>C (p.Leu697=)
c.2115G>C (p.Leu705=)
n.2246G>C
c.2511G>C (p.Leu837=)
n.2691G>C
n.2671G>C
c.2163G>C (p.Leu721=)
n.2656G>C
20g.3228882C>TCA509558179SLC4A11c.2148G>A (p.Leu716=)
c.2079G>A (p.Leu693=)
c.2019G>A (p.Leu673=)
c.2034G>A (p.Leu678=)
c.2196G>A (p.Leu732=)
c.2277G>A (p.Leu759=)
c.*296G>A (n.*296G>A)
c.2517G>A (p.Leu839=)
c.2091G>A (p.Leu697=)
c.2115G>A (p.Leu705=)
n.2246G>A
c.2511G>A (p.Leu837=)
n.2691G>A
n.2671G>A
c.2163G>A (p.Leu721=)
n.2656G>A
20g.3228883A>CCA408086883SLC4A11c.2147T>G (p.Leu716Arg)
c.2078T>G (p.Leu693Arg)
c.2018T>G (p.Leu673Arg)
c.2033T>G (p.Leu678Arg)
c.2195T>G (p.Leu732Arg)
c.2276T>G (p.Leu759Arg)
c.*295T>G (n.*295T>G)
c.2516T>G (p.Leu839Arg)
c.2090T>G (p.Leu697Arg)
c.2114T>G (p.Leu705Arg)
n.2245T>G
c.2510T>G (p.Leu837Arg)
n.2690T>G
n.2670T>G
c.2162T>G (p.Leu721Arg)
n.2655T>G
20g.3228883A>GCA408086885SLC4A11c.2147T>C (p.Leu716Pro)
c.2078T>C (p.Leu693Pro)
c.2018T>C (p.Leu673Pro)
c.2033T>C (p.Leu678Pro)
c.2195T>C (p.Leu732Pro)
c.2276T>C (p.Leu759Pro)
c.*295T>C (n.*295T>C)
c.2516T>C (p.Leu839Pro)
c.2090T>C (p.Leu697Pro)
c.2114T>C (p.Leu705Pro)
n.2245T>C
c.2510T>C (p.Leu837Pro)
n.2690T>C
n.2670T>C
c.2162T>C (p.Leu721Pro)
n.2655T>C
20g.3228883A>TCA408086887SLC4A11c.2147T>A (p.Leu716Gln)
c.2078T>A (p.Leu693Gln)
c.2018T>A (p.Leu673Gln)
c.2033T>A (p.Leu678Gln)
c.2195T>A (p.Leu732Gln)
c.2276T>A (p.Leu759Gln)
c.*295T>A (n.*295T>A)
c.2516T>A (p.Leu839Gln)
c.2090T>A (p.Leu697Gln)
c.2114T>A (p.Leu705Gln)
n.2245T>A
c.2510T>A (p.Leu837Gln)
n.2690T>A
n.2670T>A
c.2162T>A (p.Leu721Gln)
n.2655T>A
20g.3228883dupCA2695229231SLC4A11c.2147dup (p.Ala717GlyfsTer14)
c.2078dup (p.Ala694GlyfsTer14)
c.2018dup (p.Ala674GlyfsTer14)
c.2033dup (p.Ala679GlyfsTer14)
c.2195dup (p.Ala733GlyfsTer14)
c.2276dup (p.Ala760GlyfsTer14)
c.*295dup (n.*295dup)
c.2516dup (p.Ala840GlyfsTer14)
c.2090dup (p.Ala698GlyfsTer14)
c.2114dup (p.Ala706GlyfsTer14)
n.2245dup
c.2510dup (p.Ala838GlyfsTer14)
n.2690dup
n.2670dup
c.2162dup (p.Ala722GlyfsTer14)
n.2655dup
20g.3228884G>ACA509558181SLC4A11c.2146C>T (p.Leu716=)
c.2077C>T (p.Leu693=)
c.2017C>T (p.Leu673=)
c.2032C>T (p.Leu678=)
c.2194C>T (p.Leu732=)
c.2275C>T (p.Leu759=)
c.*294C>T (n.*294C>T)
c.2515C>T (p.Leu839=)
c.2089C>T (p.Leu697=)
c.2113C>T (p.Leu705=)
n.2244C>T
c.2509C>T (p.Leu837=)
n.2689C>T
n.2669C>T
c.2161C>T (p.Leu721=)
n.2654C>T
 ClinVar
20g.3228884G>CCA408086889SLC4A11c.2146C>G (p.Leu716Val)
c.2077C>G (p.Leu693Val)
c.2017C>G (p.Leu673Val)
c.2032C>G (p.Leu678Val)
c.2194C>G (p.Leu732Val)
c.2275C>G (p.Leu759Val)
c.*294C>G (n.*294C>G)
c.2515C>G (p.Leu839Val)
c.2089C>G (p.Leu697Val)
c.2113C>G (p.Leu705Val)
n.2244C>G
c.2509C>G (p.Leu837Val)
n.2689C>G
n.2669C>G
c.2161C>G (p.Leu721Val)
n.2654C>G
20g.3228884G>TCA408086891SLC4A11c.2146C>A (p.Leu716Met)
c.2077C>A (p.Leu693Met)
c.2017C>A (p.Leu673Met)
c.2032C>A (p.Leu678Met)
c.2194C>A (p.Leu732Met)
c.2275C>A (p.Leu759Met)
c.*294C>A (n.*294C>A)
c.2515C>A (p.Leu839Met)
c.2089C>A (p.Leu697Met)
c.2113C>A (p.Leu705Met)
n.2244C>A
c.2509C>A (p.Leu837Met)
n.2689C>A
n.2669C>A
c.2161C>A (p.Leu721Met)
n.2654C>A
20g.3228885G>ACA9741577SLC4A11c.2145C>T (p.Ala715=)
c.2076C>T (p.Ala692=)
c.2016C>T (p.Ala672=)
c.2031C>T (p.Ala677=)
c.2193C>T (p.Ala731=)
c.2274C>T (p.Ala758=)
c.*293C>T (n.*293C>T)
c.2514C>T (p.Ala838=)
c.2088C>T (p.Ala696=)
c.2112C>T (p.Ala704=)
n.2243C>T
c.2508C>T (p.Ala836=)
n.2688C>T
n.2668C>T
c.2160C>T (p.Ala720=)
n.2653C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228885G>CCA509558183SLC4A11c.2145C>G (p.Ala715=)
c.2076C>G (p.Ala692=)
c.2016C>G (p.Ala672=)
c.2031C>G (p.Ala677=)
c.2193C>G (p.Ala731=)
c.2274C>G (p.Ala758=)
c.*293C>G (n.*293C>G)
c.2514C>G (p.Ala838=)
c.2088C>G (p.Ala696=)
c.2112C>G (p.Ala704=)
n.2243C>G
c.2508C>G (p.Ala836=)
n.2688C>G
n.2668C>G
c.2160C>G (p.Ala720=)
n.2653C>G
20g.3228885G=CA2346475219SLC4A11c.2145C= (p.Ala715=)
c.2076C= (p.Ala692=)
c.2016C= (p.Ala672=)
c.2031C= (p.Ala677=)
c.2193C= (p.Ala731=)
c.2274C= (p.Ala758=)
c.*293C= (n.*293C=)
c.2514C= (p.Ala838=)
c.2088C= (p.Ala696=)
c.2112C= (p.Ala704=)
n.2243C=
c.2508C= (p.Ala836=)
n.2688C=
n.2668C=
c.2160C= (p.Ala720=)
n.2653C=
20g.3228885G>TCA509558184SLC4A11c.2145C>A (p.Ala715=)
c.2076C>A (p.Ala692=)
c.2016C>A (p.Ala672=)
c.2031C>A (p.Ala677=)
c.2193C>A (p.Ala731=)
c.2274C>A (p.Ala758=)
c.*293C>A (n.*293C>A)
c.2514C>A (p.Ala838=)
c.2088C>A (p.Ala696=)
c.2112C>A (p.Ala704=)
n.2243C>A
c.2508C>A (p.Ala836=)
n.2688C>A
n.2668C>A
c.2160C>A (p.Ala720=)
n.2653C>A
20g.3228886G>ACA408086897SLC4A11c.2144C>T (p.Ala715Val)
c.2075C>T (p.Ala692Val)
c.2015C>T (p.Ala672Val)
c.2030C>T (p.Ala677Val)
c.2192C>T (p.Ala731Val)
c.2273C>T (p.Ala758Val)
c.*292C>T (n.*292C>T)
c.2513C>T (p.Ala838Val)
c.2087C>T (p.Ala696Val)
c.2111C>T (p.Ala704Val)
n.2242C>T
c.2507C>T (p.Ala836Val)
n.2687C>T
n.2667C>T
c.2159C>T (p.Ala720Val)
n.2652C>T
 dbSNP
20g.3228886G>CCA408086899SLC4A11c.2144C>G (p.Ala715Gly)
c.2075C>G (p.Ala692Gly)
c.2015C>G (p.Ala672Gly)
c.2030C>G (p.Ala677Gly)
c.2192C>G (p.Ala731Gly)
c.2273C>G (p.Ala758Gly)
c.*292C>G (n.*292C>G)
c.2513C>G (p.Ala838Gly)
c.2087C>G (p.Ala696Gly)
c.2111C>G (p.Ala704Gly)
n.2242C>G
c.2507C>G (p.Ala836Gly)
n.2687C>G
n.2667C>G
c.2159C>G (p.Ala720Gly)
n.2652C>G
20g.3228886G=CA2346475220SLC4A11c.2144C= (p.Ala715=)
c.2075C= (p.Ala692=)
c.2015C= (p.Ala672=)
c.2030C= (p.Ala677=)
c.2192C= (p.Ala731=)
c.2273C= (p.Ala758=)
c.*292C= (n.*292C=)
c.2513C= (p.Ala838=)
c.2087C= (p.Ala696=)
c.2111C= (p.Ala704=)
n.2242C=
c.2507C= (p.Ala836=)
n.2687C=
n.2667C=
c.2159C= (p.Ala720=)
n.2652C=
20g.3228886G>TCA408086901SLC4A11c.2144C>A (p.Ala715Asp)
c.2075C>A (p.Ala692Asp)
c.2015C>A (p.Ala672Asp)
c.2030C>A (p.Ala677Asp)
c.2192C>A (p.Ala731Asp)
c.2273C>A (p.Ala758Asp)
c.*292C>A (n.*292C>A)
c.2513C>A (p.Ala838Asp)
c.2087C>A (p.Ala696Asp)
c.2111C>A (p.Ala704Asp)
n.2242C>A
c.2507C>A (p.Ala836Asp)
n.2687C>A
n.2667C>A
c.2159C>A (p.Ala720Asp)
n.2652C>A
20g.3228887C>ACA408086904SLC4A11c.2143G>T (p.Ala715Ser)
c.2074G>T (p.Ala692Ser)
c.2014G>T (p.Ala672Ser)
c.2029G>T (p.Ala677Ser)
c.2191G>T (p.Ala731Ser)
c.2272G>T (p.Ala758Ser)
c.*291G>T (n.*291G>T)
c.2512G>T (p.Ala838Ser)
c.2086G>T (p.Ala696Ser)
c.2110G>T (p.Ala704Ser)
n.2241G>T
c.2506G>T (p.Ala836Ser)
n.2686G>T
n.2666G>T
c.2158G>T (p.Ala720Ser)
n.2651G>T
20g.3228887C>GCA408086906SLC4A11c.2143G>C (p.Ala715Pro)
c.2074G>C (p.Ala692Pro)
c.2014G>C (p.Ala672Pro)
c.2029G>C (p.Ala677Pro)
c.2191G>C (p.Ala731Pro)
c.2272G>C (p.Ala758Pro)
c.*291G>C (n.*291G>C)
c.2512G>C (p.Ala838Pro)
c.2086G>C (p.Ala696Pro)
c.2110G>C (p.Ala704Pro)
n.2241G>C
c.2506G>C (p.Ala836Pro)
n.2686G>C
n.2666G>C
c.2158G>C (p.Ala720Pro)
n.2651G>C
20g.3228887C>TCA408086909SLC4A11c.2143G>A (p.Ala715Thr)
c.2074G>A (p.Ala692Thr)
c.2014G>A (p.Ala672Thr)
c.2029G>A (p.Ala677Thr)
c.2191G>A (p.Ala731Thr)
c.2272G>A (p.Ala758Thr)
c.*291G>A (n.*291G>A)
c.2512G>A (p.Ala838Thr)
c.2086G>A (p.Ala696Thr)
c.2110G>A (p.Ala704Thr)
n.2241G>A
c.2506G>A (p.Ala836Thr)
n.2686G>A
n.2666G>A
c.2158G>A (p.Ala720Thr)
n.2651G>A
 gnomAD v4
20g.3228888T>ACA509558185SLC4A11c.2142A>T (p.Arg714=)
c.2073A>T (p.Arg691=)
c.2013A>T (p.Arg671=)
c.2028A>T (p.Arg676=)
c.2190A>T (p.Arg730=)
c.2271A>T (p.Arg757=)
c.*290A>T (n.*290A>T)
c.2511A>T (p.Arg837=)
c.2085A>T (p.Arg695=)
c.2109A>T (p.Arg703=)
n.2240A>T
c.2505A>T (p.Arg835=)
n.2685A>T
n.2665A>T
c.2157A>T (p.Arg719=)
n.2650A>T
20g.3228888T>CCA509558186SLC4A11c.2142A>G (p.Arg714=)
c.2073A>G (p.Arg691=)
c.2013A>G (p.Arg671=)
c.2028A>G (p.Arg676=)
c.2190A>G (p.Arg730=)
c.2271A>G (p.Arg757=)
c.*290A>G (n.*290A>G)
c.2511A>G (p.Arg837=)
c.2085A>G (p.Arg695=)
c.2109A>G (p.Arg703=)
n.2240A>G
c.2505A>G (p.Arg835=)
n.2685A>G
n.2665A>G
c.2157A>G (p.Arg719=)
n.2650A>G
20g.3228888T>GCA509558187SLC4A11c.2142A>C (p.Arg714=)
c.2073A>C (p.Arg691=)
c.2013A>C (p.Arg671=)
c.2028A>C (p.Arg676=)
c.2190A>C (p.Arg730=)
c.2271A>C (p.Arg757=)
c.*290A>C (n.*290A>C)
c.2511A>C (p.Arg837=)
c.2085A>C (p.Arg695=)
c.2109A>C (p.Arg703=)
n.2240A>C
c.2505A>C (p.Arg835=)
n.2685A>C
n.2665A>C
c.2157A>C (p.Arg719=)
n.2650A>C
20g.3228889C>ACA408086915SLC4A11c.2141G>T (p.Arg714Leu)
c.2072G>T (p.Arg691Leu)
c.2012G>T (p.Arg671Leu)
c.2027G>T (p.Arg676Leu)
c.2189G>T (p.Arg730Leu)
c.2270G>T (p.Arg757Leu)
c.*289G>T (n.*289G>T)
c.2510G>T (p.Arg837Leu)
c.2084G>T (p.Arg695Leu)
c.2108G>T (p.Arg703Leu)
n.2239G>T
c.2504G>T (p.Arg835Leu)
n.2684G>T
n.2664G>T
c.2156G>T (p.Arg719Leu)
n.2649G>T
20g.3228889C=CA2346475221SLC4A11c.2141G= (p.Arg714=)
c.2072G= (p.Arg691=)
c.2012G= (p.Arg671=)
c.2027G= (p.Arg676=)
c.2189G= (p.Arg730=)
c.2270G= (p.Arg757=)
c.*289G= (n.*289G=)
c.2510G= (p.Arg837=)
c.2084G= (p.Arg695=)
c.2108G= (p.Arg703=)
n.2239G=
c.2504G= (p.Arg835=)
n.2684G=
n.2664G=
c.2156G= (p.Arg719=)
n.2649G=
20g.3228889C>GCA408086913SLC4A11c.2141G>C (p.Arg714Pro)
c.2072G>C (p.Arg691Pro)
c.2012G>C (p.Arg671Pro)
c.2027G>C (p.Arg676Pro)
c.2189G>C (p.Arg730Pro)
c.2270G>C (p.Arg757Pro)
c.*289G>C (n.*289G>C)
c.2510G>C (p.Arg837Pro)
c.2084G>C (p.Arg695Pro)
c.2108G>C (p.Arg703Pro)
n.2239G>C
c.2504G>C (p.Arg835Pro)
n.2684G>C
n.2664G>C
c.2156G>C (p.Arg719Pro)
n.2649G>C
20g.3228889C>TCA9741578SLC4A11c.2141G>A (p.Arg714Gln)
c.2072G>A (p.Arg691Gln)
c.2012G>A (p.Arg671Gln)
c.2027G>A (p.Arg676Gln)
c.2189G>A (p.Arg730Gln)
c.2270G>A (p.Arg757Gln)
c.*289G>A (n.*289G>A)
c.2510G>A (p.Arg837Gln)
c.2084G>A (p.Arg695Gln)
c.2108G>A (p.Arg703Gln)
n.2239G>A
c.2504G>A (p.Arg835Gln)
n.2684G>A
n.2664G>A
c.2156G>A (p.Arg719Gln)
n.2649G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228889_3228898delinsCGCACGTGCACA2346475222SLC4A11c.2132_2141delinsTGCACGTGCG (p.Leu711=)
c.2063_2072delinsTGCACGTGCG (p.Leu688=)
c.2003_2012delinsTGCACGTGCG (p.Leu668=)
c.2018_2027delinsTGCACGTGCG (p.Leu673=)
c.2180_2189delinsTGCACGTGCG (p.Leu727=)
c.2261_2270delinsTGCACGTGCG (p.Leu754=)
c.*280_*289delinsTGCACGTGCG (n.*280_*289delinsTGCACGTGCG)
c.2501_2510delinsTGCACGTGCG (p.Leu834=)
c.2075_2084delinsTGCACGTGCG (p.Leu692=)
c.2099_2108delinsTGCACGTGCG (p.Leu700=)
n.2230_2239delinsTGCACGTGCG
c.2495_2504delinsTGCACGTGCG (p.Leu832=)
n.2675_2684delinsTGCACGTGCG
n.2655_2664delinsTGCACGTGCG
c.2147_2156delinsTGCACGTGCG (p.Leu716=)
n.2640_2649delinsTGCACGTGCG
20g.3228890delCA2739277020SLC4A11c.2140del (p.Arg714GlufsTer5)
c.2071del (p.Arg691GlufsTer5)
c.2011del (p.Arg671GlufsTer5)
c.2026del (p.Arg676GlufsTer5)
c.2188del (p.Arg730GlufsTer5)
c.2269del (p.Arg757GlufsTer5)
c.*288del (n.*288del)
c.2509del (p.Arg837GlufsTer5)
c.2083del (p.Arg695GlufsTer5)
c.2107del (p.Arg703GlufsTer5)
n.2238del
c.2503del (p.Arg835GlufsTer5)
n.2683del
n.2663del
c.2155del (p.Arg719GlufsTer5)
n.2648del
 ClinVar
20g.3228890G>ACA9741579SLC4A11c.2140C>T (p.Arg714Ter)
c.2071C>T (p.Arg691Ter)
c.2011C>T (p.Arg671Ter)
c.2026C>T (p.Arg676Ter)
c.2188C>T (p.Arg730Ter)
c.2269C>T (p.Arg757Ter)
c.*288C>T (n.*288C>T)
c.2509C>T (p.Arg837Ter)
c.2083C>T (p.Arg695Ter)
c.2107C>T (p.Arg703Ter)
n.2238C>T
c.2503C>T (p.Arg835Ter)
n.2683C>T
n.2663C>T
c.2155C>T (p.Arg719Ter)
n.2648C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.3228890G>CCA408086920SLC4A11c.2140C>G (p.Arg714Gly)
c.2071C>G (p.Arg691Gly)
c.2011C>G (p.Arg671Gly)
c.2026C>G (p.Arg676Gly)
c.2188C>G (p.Arg730Gly)
c.2269C>G (p.Arg757Gly)
c.*288C>G (n.*288C>G)
c.2509C>G (p.Arg837Gly)
c.2083C>G (p.Arg695Gly)
c.2107C>G (p.Arg703Gly)
n.2238C>G
c.2503C>G (p.Arg835Gly)
n.2683C>G
n.2663C>G
c.2155C>G (p.Arg719Gly)
n.2648C>G
 gnomAD v4
20g.3228890G=CA2346475224SLC4A11c.2140C= (p.Arg714=)
c.2071C= (p.Arg691=)
c.2011C= (p.Arg671=)
c.2026C= (p.Arg676=)
c.2188C= (p.Arg730=)
c.2269C= (p.Arg757=)
c.*288C= (n.*288C=)
c.2509C= (p.Arg837=)
c.2083C= (p.Arg695=)
c.2107C= (p.Arg703=)
n.2238C=
c.2503C= (p.Arg835=)
n.2683C=
n.2663C=
c.2155C= (p.Arg719=)
n.2648C=
20g.3228890G>TCA509558190SLC4A11c.2140C>A (p.Arg714=)
c.2071C>A (p.Arg691=)
c.2011C>A (p.Arg671=)
c.2026C>A (p.Arg676=)
c.2188C>A (p.Arg730=)
c.2269C>A (p.Arg757=)
c.*288C>A (n.*288C>A)
c.2509C>A (p.Arg837=)
c.2083C>A (p.Arg695=)
c.2107C>A (p.Arg703=)
n.2238C>A
c.2503C>A (p.Arg835=)
n.2683C>A
n.2663C>A
c.2155C>A (p.Arg719=)
n.2648C>A
20g.3228892_3228900delCA2346475223SLC4A11c.2132_2140del (p.Leu711_Val713del)
c.2063_2071del (p.Leu688_Val690del)
c.2003_2011del (p.Leu668_Val670del)
c.2018_2026del (p.Leu673_Val675del)
c.2180_2188del (p.Leu727_Val729del)
c.2261_2269del (p.Leu754_Val756del)
c.*280_*288del (n.*280_*288del)
c.2501_2509del (p.Leu834_Val836del)
c.2075_2083del (p.Leu692_Val694del)
c.2099_2107del (p.Leu700_Val702del)
n.2230_2238del
c.2495_2503del (p.Leu832_Val834del)
n.2675_2683del
n.2655_2663del
c.2147_2155del (p.Leu716_Val718del)
n.2640_2648del
 dbSNP
20g.3228891C>ACA509558192SLC4A11c.2139G>T (p.Val713=)
c.2070G>T (p.Val690=)
c.2010G>T (p.Val670=)
c.2025G>T (p.Val675=)
c.2187G>T (p.Val729=)
c.2268G>T (p.Val756=)
c.*287G>T (n.*287G>T)
c.2508G>T (p.Val836=)
c.2082G>T (p.Val694=)
c.2106G>T (p.Val702=)
n.2237G>T
c.2502G>T (p.Val834=)
n.2682G>T
n.2662G>T
c.2154G>T (p.Val718=)
n.2647G>T
20g.3228891C>GCA509558193SLC4A11c.2139G>C (p.Val713=)
c.2070G>C (p.Val690=)
c.2010G>C (p.Val670=)
c.2025G>C (p.Val675=)
c.2187G>C (p.Val729=)
c.2268G>C (p.Val756=)
c.*287G>C (n.*287G>C)
c.2508G>C (p.Val836=)
c.2082G>C (p.Val694=)
c.2106G>C (p.Val702=)
n.2237G>C
c.2502G>C (p.Val834=)
n.2682G>C
n.2662G>C
c.2154G>C (p.Val718=)
n.2647G>C
20g.3228891C>TCA509558194SLC4A11c.2139G>A (p.Val713=)
c.2070G>A (p.Val690=)
c.2010G>A (p.Val670=)
c.2025G>A (p.Val675=)
c.2187G>A (p.Val729=)
c.2268G>A (p.Val756=)
c.*287G>A (n.*287G>A)
c.2508G>A (p.Val836=)
c.2082G>A (p.Val694=)
c.2106G>A (p.Val702=)
n.2237G>A
c.2502G>A (p.Val834=)
n.2682G>A
n.2662G>A
c.2154G>A (p.Val718=)
n.2647G>A
20g.3228892A>CCA408086923SLC4A11c.2138T>G (p.Val713Gly)
c.2069T>G (p.Val690Gly)
c.2009T>G (p.Val670Gly)
c.2024T>G (p.Val675Gly)
c.2186T>G (p.Val729Gly)
c.2267T>G (p.Val756Gly)
c.*286T>G (n.*286T>G)
c.2507T>G (p.Val836Gly)
c.2081T>G (p.Val694Gly)
c.2105T>G (p.Val702Gly)
n.2236T>G
c.2501T>G (p.Val834Gly)
n.2681T>G
n.2661T>G
c.2153T>G (p.Val718Gly)
n.2646T>G
20g.3228892A>GCA408086925SLC4A11c.2138T>C (p.Val713Ala)
c.2069T>C (p.Val690Ala)
c.2009T>C (p.Val670Ala)
c.2024T>C (p.Val675Ala)
c.2186T>C (p.Val729Ala)
c.2267T>C (p.Val756Ala)
c.*286T>C (n.*286T>C)
c.2507T>C (p.Val836Ala)
c.2081T>C (p.Val694Ala)
c.2105T>C (p.Val702Ala)
n.2236T>C
c.2501T>C (p.Val834Ala)
n.2681T>C
n.2661T>C
c.2153T>C (p.Val718Ala)
n.2646T>C
20g.3228892A>TCA408086926SLC4A11c.2138T>A (p.Val713Glu)
c.2069T>A (p.Val690Glu)
c.2009T>A (p.Val670Glu)
c.2024T>A (p.Val675Glu)
c.2186T>A (p.Val729Glu)
c.2267T>A (p.Val756Glu)
c.*286T>A (n.*286T>A)
c.2507T>A (p.Val836Glu)
c.2081T>A (p.Val694Glu)
c.2105T>A (p.Val702Glu)
n.2236T>A
c.2501T>A (p.Val834Glu)
n.2681T>A
n.2661T>A
c.2153T>A (p.Val718Glu)
n.2646T>A
 gnomAD v4
20g.3228893C>ACA408086929SLC4A11c.2137G>T (p.Val713Leu)
c.2068G>T (p.Val690Leu)
c.2008G>T (p.Val670Leu)
c.2023G>T (p.Val675Leu)
c.2185G>T (p.Val729Leu)
c.2266G>T (p.Val756Leu)
c.*285G>T (n.*285G>T)
c.2506G>T (p.Val836Leu)
c.2080G>T (p.Val694Leu)
c.2104G>T (p.Val702Leu)
n.2235G>T
c.2500G>T (p.Val834Leu)
n.2680G>T
n.2660G>T
c.2152G>T (p.Val718Leu)
n.2645G>T
20g.3228893C=CA2346475225SLC4A11c.2137G= (p.Val713=)
c.2068G= (p.Val690=)
c.2008G= (p.Val670=)
c.2023G= (p.Val675=)
c.2185G= (p.Val729=)
c.2266G= (p.Val756=)
c.*285G= (n.*285G=)
c.2506G= (p.Val836=)
c.2080G= (p.Val694=)
c.2104G= (p.Val702=)
n.2235G=
c.2500G= (p.Val834=)
n.2680G=
n.2660G=
c.2152G= (p.Val718=)
n.2645G=
20g.3228893C>GCA408086931SLC4A11c.2137G>C (p.Val713Leu)
c.2068G>C (p.Val690Leu)
c.2008G>C (p.Val670Leu)
c.2023G>C (p.Val675Leu)
c.2185G>C (p.Val729Leu)
c.2266G>C (p.Val756Leu)
c.*285G>C (n.*285G>C)
c.2506G>C (p.Val836Leu)
c.2080G>C (p.Val694Leu)
c.2104G>C (p.Val702Leu)
n.2235G>C
c.2500G>C (p.Val834Leu)
n.2680G>C
n.2660G>C
c.2152G>C (p.Val718Leu)
n.2645G>C
 gnomAD v4
20g.3228893C>TCA9741580SLC4A11c.2137G>A (p.Val713Met)
c.2068G>A (p.Val690Met)
c.2008G>A (p.Val670Met)
c.2023G>A (p.Val675Met)
c.2185G>A (p.Val729Met)
c.2266G>A (p.Val756Met)
c.*285G>A (n.*285G>A)
c.2506G>A (p.Val836Met)
c.2080G>A (p.Val694Met)
c.2104G>A (p.Val702Met)
n.2235G>A
c.2500G>A (p.Val834Met)
n.2680G>A
n.2660G>A
c.2152G>A (p.Val718Met)
n.2645G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228894G>ACA9741581SLC4A11c.2136C>T (p.His712=)
c.2067C>T (p.His689=)
c.2007C>T (p.His669=)
c.2022C>T (p.His674=)
c.2184C>T (p.His728=)
c.2265C>T (p.His755=)
c.*284C>T (n.*284C>T)
c.2505C>T (p.His835=)
c.2079C>T (p.His693=)
c.2103C>T (p.His701=)
n.2234C>T
c.2499C>T (p.His833=)
n.2679C>T
n.2659C>T
c.2151C>T (p.His717=)
n.2644C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228894G>CCA408086937SLC4A11c.2136C>G (p.His712Gln)
c.2067C>G (p.His689Gln)
c.2007C>G (p.His669Gln)
c.2022C>G (p.His674Gln)
c.2184C>G (p.His728Gln)
c.2265C>G (p.His755Gln)
c.*284C>G (n.*284C>G)
c.2505C>G (p.His835Gln)
c.2079C>G (p.His693Gln)
c.2103C>G (p.His701Gln)
n.2234C>G
c.2499C>G (p.His833Gln)
n.2679C>G
n.2659C>G
c.2151C>G (p.His717Gln)
n.2644C>G
 gnomAD v4
20g.3228894G=CA2346475226SLC4A11c.2136C= (p.His712=)
c.2067C= (p.His689=)
c.2007C= (p.His669=)
c.2022C= (p.His674=)
c.2184C= (p.His728=)
c.2265C= (p.His755=)
c.*284C= (n.*284C=)
c.2505C= (p.His835=)
c.2079C= (p.His693=)
c.2103C= (p.His701=)
n.2234C=
c.2499C= (p.His833=)
n.2679C=
n.2659C=
c.2151C= (p.His717=)
n.2644C=
20g.3228894G>TCA408086939SLC4A11c.2136C>A (p.His712Gln)
c.2067C>A (p.His689Gln)
c.2007C>A (p.His669Gln)
c.2022C>A (p.His674Gln)
c.2184C>A (p.His728Gln)
c.2265C>A (p.His755Gln)
c.*284C>A (n.*284C>A)
c.2505C>A (p.His835Gln)
c.2079C>A (p.His693Gln)
c.2103C>A (p.His701Gln)
n.2234C>A
c.2499C>A (p.His833Gln)
n.2679C>A
n.2659C>A
c.2151C>A (p.His717Gln)
n.2644C>A
 gnomAD v4
20g.3228895T>ACA408086941SLC4A11c.2135A>T (p.His712Leu)
c.2066A>T (p.His689Leu)
c.2006A>T (p.His669Leu)
c.2021A>T (p.His674Leu)
c.2183A>T (p.His728Leu)
c.2264A>T (p.His755Leu)
c.*283A>T (n.*283A>T)
c.2504A>T (p.His835Leu)
c.2078A>T (p.His693Leu)
c.2102A>T (p.His701Leu)
n.2233A>T
c.2498A>T (p.His833Leu)
n.2678A>T
n.2658A>T
c.2150A>T (p.His717Leu)
n.2643A>T
20g.3228895T>CCA408086943SLC4A11c.2135A>G (p.His712Arg)
c.2066A>G (p.His689Arg)
c.2006A>G (p.His669Arg)
c.2021A>G (p.His674Arg)
c.2183A>G (p.His728Arg)
c.2264A>G (p.His755Arg)
c.*283A>G (n.*283A>G)
c.2504A>G (p.His835Arg)
c.2078A>G (p.His693Arg)
c.2102A>G (p.His701Arg)
n.2233A>G
c.2498A>G (p.His833Arg)
n.2678A>G
n.2658A>G
c.2150A>G (p.His717Arg)
n.2643A>G
20g.3228895T>GCA408086946SLC4A11c.2135A>C (p.His712Pro)
c.2066A>C (p.His689Pro)
c.2006A>C (p.His669Pro)
c.2021A>C (p.His674Pro)
c.2183A>C (p.His728Pro)
c.2264A>C (p.His755Pro)
c.*283A>C (n.*283A>C)
c.2504A>C (p.His835Pro)
c.2078A>C (p.His693Pro)
c.2102A>C (p.His701Pro)
n.2233A>C
c.2498A>C (p.His833Pro)
n.2678A>C
n.2658A>C
c.2150A>C (p.His717Pro)
n.2643A>C
20g.3228896G>ACA408086951SLC4A11c.2134C>T (p.His712Tyr)
c.2065C>T (p.His689Tyr)
c.2005C>T (p.His669Tyr)
c.2020C>T (p.His674Tyr)
c.2182C>T (p.His728Tyr)
c.2263C>T (p.His755Tyr)
c.*282C>T (n.*282C>T)
c.2503C>T (p.His835Tyr)
c.2077C>T (p.His693Tyr)
c.2101C>T (p.His701Tyr)
n.2232C>T
c.2497C>T (p.His833Tyr)
n.2677C>T
n.2657C>T
c.2149C>T (p.His717Tyr)
n.2642C>T
 gnomAD v4
20g.3228896G>CCA408086953SLC4A11c.2134C>G (p.His712Asp)
c.2065C>G (p.His689Asp)
c.2005C>G (p.His669Asp)
c.2020C>G (p.His674Asp)
c.2182C>G (p.His728Asp)
c.2263C>G (p.His755Asp)
c.*282C>G (n.*282C>G)
c.2503C>G (p.His835Asp)
c.2077C>G (p.His693Asp)
c.2101C>G (p.His701Asp)
n.2232C>G
c.2497C>G (p.His833Asp)
n.2677C>G
n.2657C>G
c.2149C>G (p.His717Asp)
n.2642C>G
20g.3228896G>TCA408086949SLC4A11c.2134C>A (p.His712Asn)
c.2065C>A (p.His689Asn)
c.2005C>A (p.His669Asn)
c.2020C>A (p.His674Asn)
c.2182C>A (p.His728Asn)
c.2263C>A (p.His755Asn)
c.*282C>A (n.*282C>A)
c.2503C>A (p.His835Asn)
c.2077C>A (p.His693Asn)
c.2101C>A (p.His701Asn)
n.2232C>A
c.2497C>A (p.His833Asn)
n.2677C>A
n.2657C>A
c.2149C>A (p.His717Asn)
n.2642C>A
 gnomAD v4
20g.3228897C>ACA509558197SLC4A11c.2133G>T (p.Leu711=)
c.2064G>T (p.Leu688=)
c.2004G>T (p.Leu668=)
c.2019G>T (p.Leu673=)
c.2181G>T (p.Leu727=)
c.2262G>T (p.Leu754=)
c.*281G>T (n.*281G>T)
c.2502G>T (p.Leu834=)
c.2076G>T (p.Leu692=)
c.2100G>T (p.Leu700=)
n.2231G>T
c.2496G>T (p.Leu832=)
n.2676G>T
n.2656G>T
c.2148G>T (p.Leu716=)
n.2641G>T
20g.3228897C>GCA509558198SLC4A11c.2133G>C (p.Leu711=)
c.2064G>C (p.Leu688=)
c.2004G>C (p.Leu668=)
c.2019G>C (p.Leu673=)
c.2181G>C (p.Leu727=)
c.2262G>C (p.Leu754=)
c.*281G>C (n.*281G>C)
c.2502G>C (p.Leu834=)
c.2076G>C (p.Leu692=)
c.2100G>C (p.Leu700=)
n.2231G>C
c.2496G>C (p.Leu832=)
n.2676G>C
n.2656G>C
c.2148G>C (p.Leu716=)
n.2641G>C
20g.3228897C>TCA509558200SLC4A11c.2133G>A (p.Leu711=)
c.2064G>A (p.Leu688=)
c.2004G>A (p.Leu668=)
c.2019G>A (p.Leu673=)
c.2181G>A (p.Leu727=)
c.2262G>A (p.Leu754=)
c.*281G>A (n.*281G>A)
c.2502G>A (p.Leu834=)
c.2076G>A (p.Leu692=)
c.2100G>A (p.Leu700=)
n.2231G>A
c.2496G>A (p.Leu832=)
n.2676G>A
n.2656G>A
c.2148G>A (p.Leu716=)
n.2641G>A
20g.3228898A=CA2346475227SLC4A11c.2132T= (p.Leu711=)
c.2063T= (p.Leu688=)
c.2003T= (p.Leu668=)
c.2018T= (p.Leu673=)
c.2180T= (p.Leu727=)
c.2261T= (p.Leu754=)
c.*280T= (n.*280T=)
c.2501T= (p.Leu834=)
c.2075T= (p.Leu692=)
c.2099T= (p.Leu700=)
n.2230T=
c.2495T= (p.Leu832=)
n.2675T=
n.2655T=
c.2147T= (p.Leu716=)
n.2640T=
20g.3228898A>CCA408086955SLC4A11c.2132T>G (p.Leu711Arg)
c.2063T>G (p.Leu688Arg)
c.2003T>G (p.Leu668Arg)
c.2018T>G (p.Leu673Arg)
c.2180T>G (p.Leu727Arg)
c.2261T>G (p.Leu754Arg)
c.*280T>G (n.*280T>G)
c.2501T>G (p.Leu834Arg)
c.2075T>G (p.Leu692Arg)
c.2099T>G (p.Leu700Arg)
n.2230T>G
c.2495T>G (p.Leu832Arg)
n.2675T>G
n.2655T>G
c.2147T>G (p.Leu716Arg)
n.2640T>G
20g.3228898A>GCA9741582SLC4A11c.2132T>C (p.Leu711Pro)
c.2063T>C (p.Leu688Pro)
c.2003T>C (p.Leu668Pro)
c.2018T>C (p.Leu673Pro)
c.2180T>C (p.Leu727Pro)
c.2261T>C (p.Leu754Pro)
c.*280T>C (n.*280T>C)
c.2501T>C (p.Leu834Pro)
c.2075T>C (p.Leu692Pro)
c.2099T>C (p.Leu700Pro)
n.2230T>C
c.2495T>C (p.Leu832Pro)
n.2675T>C
n.2655T>C
c.2147T>C (p.Leu716Pro)
n.2640T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228898A>TCA408086957SLC4A11c.2132T>A (p.Leu711Gln)
c.2063T>A (p.Leu688Gln)
c.2003T>A (p.Leu668Gln)
c.2018T>A (p.Leu673Gln)
c.2180T>A (p.Leu727Gln)
c.2261T>A (p.Leu754Gln)
c.*280T>A (n.*280T>A)
c.2501T>A (p.Leu834Gln)
c.2075T>A (p.Leu692Gln)
c.2099T>A (p.Leu700Gln)
n.2230T>A
c.2495T>A (p.Leu832Gln)
n.2675T>A
n.2655T>A
c.2147T>A (p.Leu716Gln)
n.2640T>A
20g.3228899G>ACA509558202SLC4A11c.2131C>T (p.Leu711=)
c.2062C>T (p.Leu688=)
c.2002C>T (p.Leu668=)
c.2017C>T (p.Leu673=)
c.2179C>T (p.Leu727=)
c.2260C>T (p.Leu754=)
c.*279C>T (n.*279C>T)
c.2500C>T (p.Leu834=)
c.2074C>T (p.Leu692=)
c.2098C>T (p.Leu700=)
n.2229C>T
c.2494C>T (p.Leu832=)
n.2674C>T
n.2654C>T
c.2146C>T (p.Leu716=)
n.2639C>T
20g.3228899G>CCA408086958SLC4A11c.2131C>G (p.Leu711Val)
c.2062C>G (p.Leu688Val)
c.2002C>G (p.Leu668Val)
c.2017C>G (p.Leu673Val)
c.2179C>G (p.Leu727Val)
c.2260C>G (p.Leu754Val)
c.*279C>G (n.*279C>G)
c.2500C>G (p.Leu834Val)
c.2074C>G (p.Leu692Val)
c.2098C>G (p.Leu700Val)
n.2229C>G
c.2494C>G (p.Leu832Val)
n.2674C>G
n.2654C>G
c.2146C>G (p.Leu716Val)
n.2639C>G
20g.3228899G>TCA408086959SLC4A11c.2131C>A (p.Leu711Met)
c.2062C>A (p.Leu688Met)
c.2002C>A (p.Leu668Met)
c.2017C>A (p.Leu673Met)
c.2179C>A (p.Leu727Met)
c.2260C>A (p.Leu754Met)
c.*279C>A (n.*279C>A)
c.2500C>A (p.Leu834Met)
c.2074C>A (p.Leu692Met)
c.2098C>A (p.Leu700Met)
n.2229C>A
c.2494C>A (p.Leu832Met)
n.2674C>A
n.2654C>A
c.2146C>A (p.Leu716Met)
n.2639C>A
20g.3228900C>ACA509558206SLC4A11c.2130G>T (p.Pro710=)
c.2061G>T (p.Pro687=)
c.2001G>T (p.Pro667=)
c.2016G>T (p.Pro672=)
c.2178G>T (p.Pro726=)
c.2259G>T (p.Pro753=)
c.*278G>T (n.*278G>T)
c.2499G>T (p.Pro833=)
c.2073G>T (p.Pro691=)
c.2097G>T (p.Pro699=)
n.2228G>T
c.2493G>T (p.Pro831=)
n.2673G>T
n.2653G>T
c.2145G>T (p.Pro715=)
n.2638G>T
20g.3228900C=CA2346475228SLC4A11c.2130G= (p.Pro710=)
c.2061G= (p.Pro687=)
c.2001G= (p.Pro667=)
c.2016G= (p.Pro672=)
c.2178G= (p.Pro726=)
c.2259G= (p.Pro753=)
c.*278G= (n.*278G=)
c.2499G= (p.Pro833=)
c.2073G= (p.Pro691=)
c.2097G= (p.Pro699=)
n.2228G=
c.2493G= (p.Pro831=)
n.2673G=
n.2653G=
c.2145G= (p.Pro715=)
n.2638G=
20g.3228900C>GCA509558207SLC4A11c.2130G>C (p.Pro710=)
c.2061G>C (p.Pro687=)
c.2001G>C (p.Pro667=)
c.2016G>C (p.Pro672=)
c.2178G>C (p.Pro726=)
c.2259G>C (p.Pro753=)
c.*278G>C (n.*278G>C)
c.2499G>C (p.Pro833=)
c.2073G>C (p.Pro691=)
c.2097G>C (p.Pro699=)
n.2228G>C
c.2493G>C (p.Pro831=)
n.2673G>C
n.2653G>C
c.2145G>C (p.Pro715=)
n.2638G>C
20g.3228900C>TCA9741583SLC4A11c.2130G>A (p.Pro710=)
c.2061G>A (p.Pro687=)
c.2001G>A (p.Pro667=)
c.2016G>A (p.Pro672=)
c.2178G>A (p.Pro726=)
c.2259G>A (p.Pro753=)
c.*278G>A (n.*278G>A)
c.2499G>A (p.Pro833=)
c.2073G>A (p.Pro691=)
c.2097G>A (p.Pro699=)
n.2228G>A
c.2493G>A (p.Pro831=)
n.2673G>A
n.2653G>A
c.2145G>A (p.Pro715=)
n.2638G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228901G>ACA9741584SLC4A11c.2129C>T (p.Pro710Leu)
c.2060C>T (p.Pro687Leu)
c.2000C>T (p.Pro667Leu)
c.2015C>T (p.Pro672Leu)
c.2177C>T (p.Pro726Leu)
c.2258C>T (p.Pro753Leu)
c.*277C>T (n.*277C>T)
c.2498C>T (p.Pro833Leu)
c.2072C>T (p.Pro691Leu)
c.2096C>T (p.Pro699Leu)
n.2227C>T
c.2492C>T (p.Pro831Leu)
n.2672C>T
n.2652C>T
c.2144C>T (p.Pro715Leu)
n.2637C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228901G>CCA408086960SLC4A11c.2129C>G (p.Pro710Arg)
c.2060C>G (p.Pro687Arg)
c.2000C>G (p.Pro667Arg)
c.2015C>G (p.Pro672Arg)
c.2177C>G (p.Pro726Arg)
c.2258C>G (p.Pro753Arg)
c.*277C>G (n.*277C>G)
c.2498C>G (p.Pro833Arg)
c.2072C>G (p.Pro691Arg)
c.2096C>G (p.Pro699Arg)
n.2227C>G
c.2492C>G (p.Pro831Arg)
n.2672C>G
n.2652C>G
c.2144C>G (p.Pro715Arg)
n.2637C>G
20g.3228901G=CA2346475229SLC4A11c.2129C= (p.Pro710=)
c.2060C= (p.Pro687=)
c.2000C= (p.Pro667=)
c.2015C= (p.Pro672=)
c.2177C= (p.Pro726=)
c.2258C= (p.Pro753=)
c.*277C= (n.*277C=)
c.2498C= (p.Pro833=)
c.2072C= (p.Pro691=)
c.2096C= (p.Pro699=)
n.2227C=
c.2492C= (p.Pro831=)
n.2672C=
n.2652C=
c.2144C= (p.Pro715=)
n.2637C=
20g.3228901G>TCA408086961SLC4A11c.2129C>A (p.Pro710Gln)
c.2060C>A (p.Pro687Gln)
c.2000C>A (p.Pro667Gln)
c.2015C>A (p.Pro672Gln)
c.2177C>A (p.Pro726Gln)
c.2258C>A (p.Pro753Gln)
c.*277C>A (n.*277C>A)
c.2498C>A (p.Pro833Gln)
c.2072C>A (p.Pro691Gln)
c.2096C>A (p.Pro699Gln)
n.2227C>A
c.2492C>A (p.Pro831Gln)
n.2672C>A
n.2652C>A
c.2144C>A (p.Pro715Gln)
n.2637C>A
20g.3228902G>ACA9741585SLC4A11c.2128C>T (p.Pro710Ser)
c.2059C>T (p.Pro687Ser)
c.1999C>T (p.Pro667Ser)
c.2014C>T (p.Pro672Ser)
c.2176C>T (p.Pro726Ser)
c.2257C>T (p.Pro753Ser)
c.*276C>T (n.*276C>T)
c.2497C>T (p.Pro833Ser)
c.2071C>T (p.Pro691Ser)
c.2095C>T (p.Pro699Ser)
n.2226C>T
c.2491C>T (p.Pro831Ser)
n.2671C>T
n.2651C>T
c.2143C>T (p.Pro715Ser)
n.2636C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228902G>CCA408086962SLC4A11c.2128C>G (p.Pro710Ala)
c.2059C>G (p.Pro687Ala)
c.1999C>G (p.Pro667Ala)
c.2014C>G (p.Pro672Ala)
c.2176C>G (p.Pro726Ala)
c.2257C>G (p.Pro753Ala)
c.*276C>G (n.*276C>G)
c.2497C>G (p.Pro833Ala)
c.2071C>G (p.Pro691Ala)
c.2095C>G (p.Pro699Ala)
n.2226C>G
c.2491C>G (p.Pro831Ala)
n.2671C>G
n.2651C>G
c.2143C>G (p.Pro715Ala)
n.2636C>G
20g.3228902G=CA2346475230SLC4A11c.2128C= (p.Pro710=)
c.2059C= (p.Pro687=)
c.1999C= (p.Pro667=)
c.2014C= (p.Pro672=)
c.2176C= (p.Pro726=)
c.2257C= (p.Pro753=)
c.*276C= (n.*276C=)
c.2497C= (p.Pro833=)
c.2071C= (p.Pro691=)
c.2095C= (p.Pro699=)
n.2226C=
c.2491C= (p.Pro831=)
n.2671C=
n.2651C=
c.2143C= (p.Pro715=)
n.2636C=
20g.3228902G>TCA408086963SLC4A11c.2128C>A (p.Pro710Thr)
c.2059C>A (p.Pro687Thr)
c.1999C>A (p.Pro667Thr)
c.2014C>A (p.Pro672Thr)
c.2176C>A (p.Pro726Thr)
c.2257C>A (p.Pro753Thr)
c.*276C>A (n.*276C>A)
c.2497C>A (p.Pro833Thr)
c.2071C>A (p.Pro691Thr)
c.2095C>A (p.Pro699Thr)
n.2226C>A
c.2491C>A (p.Pro831Thr)
n.2671C>A
n.2651C>A
c.2143C>A (p.Pro715Thr)
n.2636C>A
 dbSNP gnomAD v3 gnomAD v4
20g.3228903G>ACA509558214SLC4A11c.2127C>T (p.Ser709=)
c.2058C>T (p.Ser686=)
c.1998C>T (p.Ser666=)
c.2013C>T (p.Ser671=)
c.2175C>T (p.Ser725=)
c.2256C>T (p.Ser752=)
c.*275C>T (n.*275C>T)
c.2496C>T (p.Ser832=)
c.2070C>T (p.Ser690=)
c.2094C>T (p.Ser698=)
n.2225C>T
c.2490C>T (p.Ser830=)
n.2670C>T
n.2650C>T
c.2142C>T (p.Ser714=)
n.2635C>T
 dbSNP
20g.3228903G>CCA509558212SLC4A11c.2127C>G (p.Ser709=)
c.2058C>G (p.Ser686=)
c.1998C>G (p.Ser666=)
c.2013C>G (p.Ser671=)
c.2175C>G (p.Ser725=)
c.2256C>G (p.Ser752=)
c.*275C>G (n.*275C>G)
c.2496C>G (p.Ser832=)
c.2070C>G (p.Ser690=)
c.2094C>G (p.Ser698=)
n.2225C>G
c.2490C>G (p.Ser830=)
n.2670C>G
n.2650C>G
c.2142C>G (p.Ser714=)
n.2635C>G
20g.3228903G=CA2346475231SLC4A11c.2127C= (p.Ser709=)
c.2058C= (p.Ser686=)
c.1998C= (p.Ser666=)
c.2013C= (p.Ser671=)
c.2175C= (p.Ser725=)
c.2256C= (p.Ser752=)
c.*275C= (n.*275C=)
c.2496C= (p.Ser832=)
c.2070C= (p.Ser690=)
c.2094C= (p.Ser698=)
n.2225C=
c.2490C= (p.Ser830=)
n.2670C=
n.2650C=
c.2142C= (p.Ser714=)
n.2635C=
20g.3228903G>TCA509558211SLC4A11c.2127C>A (p.Ser709=)
c.2058C>A (p.Ser686=)
c.1998C>A (p.Ser666=)
c.2013C>A (p.Ser671=)
c.2175C>A (p.Ser725=)
c.2256C>A (p.Ser752=)
c.*275C>A (n.*275C>A)
c.2496C>A (p.Ser832=)
c.2070C>A (p.Ser690=)
c.2094C>A (p.Ser698=)
n.2225C>A
c.2490C>A (p.Ser830=)
n.2670C>A
n.2650C>A
c.2142C>A (p.Ser714=)
n.2635C>A
20g.3228904G>ACA408086964SLC4A11c.2126C>T (p.Ser709Phe)
c.2057C>T (p.Ser686Phe)
c.1997C>T (p.Ser666Phe)
c.2012C>T (p.Ser671Phe)
c.2174C>T (p.Ser725Phe)
c.2255C>T (p.Ser752Phe)
c.*274C>T (n.*274C>T)
c.2495C>T (p.Ser832Phe)
c.2069C>T (p.Ser690Phe)
c.2093C>T (p.Ser698Phe)
n.2224C>T
c.2489C>T (p.Ser830Phe)
n.2669C>T
n.2649C>T
c.2141C>T (p.Ser714Phe)
n.2634C>T
20g.3228904G>CCA408086965SLC4A11c.2126C>G (p.Ser709Cys)
c.2057C>G (p.Ser686Cys)
c.1997C>G (p.Ser666Cys)
c.2012C>G (p.Ser671Cys)
c.2174C>G (p.Ser725Cys)
c.2255C>G (p.Ser752Cys)
c.*274C>G (n.*274C>G)
c.2495C>G (p.Ser832Cys)
c.2069C>G (p.Ser690Cys)
c.2093C>G (p.Ser698Cys)
n.2224C>G
c.2489C>G (p.Ser830Cys)
n.2669C>G
n.2649C>G
c.2141C>G (p.Ser714Cys)
n.2634C>G
 gnomAD v4
20g.3228904G>TCA408086966SLC4A11c.2126C>A (p.Ser709Tyr)
c.2057C>A (p.Ser686Tyr)
c.1997C>A (p.Ser666Tyr)
c.2012C>A (p.Ser671Tyr)
c.2174C>A (p.Ser725Tyr)
c.2255C>A (p.Ser752Tyr)
c.*274C>A (n.*274C>A)
c.2495C>A (p.Ser832Tyr)
c.2069C>A (p.Ser690Tyr)
c.2093C>A (p.Ser698Tyr)
n.2224C>A
c.2489C>A (p.Ser830Tyr)
n.2669C>A
n.2649C>A
c.2141C>A (p.Ser714Tyr)
n.2634C>A
20g.3228905A>CCA408086967SLC4A11c.2125T>G (p.Ser709Ala)
c.2056T>G (p.Ser686Ala)
c.1996T>G (p.Ser666Ala)
c.2011T>G (p.Ser671Ala)
c.2173T>G (p.Ser725Ala)
c.2254T>G (p.Ser752Ala)
c.*273T>G (n.*273T>G)
c.2494T>G (p.Ser832Ala)
c.2068T>G (p.Ser690Ala)
c.2092T>G (p.Ser698Ala)
n.2223T>G
c.2488T>G (p.Ser830Ala)
n.2668T>G
n.2648T>G
c.2140T>G (p.Ser714Ala)
n.2633T>G
20g.3228905A>GCA408086968SLC4A11c.2125T>C (p.Ser709Pro)
c.2056T>C (p.Ser686Pro)
c.1996T>C (p.Ser666Pro)
c.2011T>C (p.Ser671Pro)
c.2173T>C (p.Ser725Pro)
c.2254T>C (p.Ser752Pro)
c.*273T>C (n.*273T>C)
c.2494T>C (p.Ser832Pro)
c.2068T>C (p.Ser690Pro)
c.2092T>C (p.Ser698Pro)
n.2223T>C
c.2488T>C (p.Ser830Pro)
n.2668T>C
n.2648T>C
c.2140T>C (p.Ser714Pro)
n.2633T>C
20g.3228905A>TCA408086969SLC4A11c.2125T>A (p.Ser709Thr)
c.2056T>A (p.Ser686Thr)
c.1996T>A (p.Ser666Thr)
c.2011T>A (p.Ser671Thr)
c.2173T>A (p.Ser725Thr)
c.2254T>A (p.Ser752Thr)
c.*273T>A (n.*273T>A)
c.2494T>A (p.Ser832Thr)
c.2068T>A (p.Ser690Thr)
c.2092T>A (p.Ser698Thr)
n.2223T>A
c.2488T>A (p.Ser830Thr)
n.2668T>A
n.2648T>A
c.2140T>A (p.Ser714Thr)
n.2633T>A
20g.3228906G>ACA9741586SLC4A11c.2124C>T (p.His708=)
c.2055C>T (p.His685=)
c.1995C>T (p.His665=)
c.2010C>T (p.His670=)
c.2172C>T (p.His724=)
c.2253C>T (p.His751=)
c.*272C>T (n.*272C>T)
c.2493C>T (p.His831=)
c.2067C>T (p.His689=)
c.2091C>T (p.His697=)
n.2222C>T
c.2487C>T (p.His829=)
n.2667C>T
n.2647C>T
c.2139C>T (p.His713=)
n.2632C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228906G>CCA408086971SLC4A11c.2124C>G (p.His708Gln)
c.2055C>G (p.His685Gln)
c.1995C>G (p.His665Gln)
c.2010C>G (p.His670Gln)
c.2172C>G (p.His724Gln)
c.2253C>G (p.His751Gln)
c.*272C>G (n.*272C>G)
c.2493C>G (p.His831Gln)
c.2067C>G (p.His689Gln)
c.2091C>G (p.His697Gln)
n.2222C>G
c.2487C>G (p.His829Gln)
n.2667C>G
n.2647C>G
c.2139C>G (p.His713Gln)
n.2632C>G
 gnomAD v4
20g.3228906G=CA2346475232SLC4A11c.2124C= (p.His708=)
c.2055C= (p.His685=)
c.1995C= (p.His665=)
c.2010C= (p.His670=)
c.2172C= (p.His724=)
c.2253C= (p.His751=)
c.*272C= (n.*272C=)
c.2493C= (p.His831=)
c.2067C= (p.His689=)
c.2091C= (p.His697=)
n.2222C=
c.2487C= (p.His829=)
n.2667C=
n.2647C=
c.2139C= (p.His713=)
n.2632C=
20g.3228906G>TCA408086970SLC4A11c.2124C>A (p.His708Gln)
c.2055C>A (p.His685Gln)
c.1995C>A (p.His665Gln)
c.2010C>A (p.His670Gln)
c.2172C>A (p.His724Gln)
c.2253C>A (p.His751Gln)
c.*272C>A (n.*272C>A)
c.2493C>A (p.His831Gln)
c.2067C>A (p.His689Gln)
c.2091C>A (p.His697Gln)
n.2222C>A
c.2487C>A (p.His829Gln)
n.2667C>A
n.2647C>A
c.2139C>A (p.His713Gln)
n.2632C>A
 dbSNP
20g.3228907T>ACA408086972SLC4A11c.2123A>T (p.His708Leu)
c.2054A>T (p.His685Leu)
c.1994A>T (p.His665Leu)
c.2009A>T (p.His670Leu)
c.2171A>T (p.His724Leu)
c.2252A>T (p.His751Leu)
c.*271A>T (n.*271A>T)
c.2492A>T (p.His831Leu)
c.2066A>T (p.His689Leu)
c.2090A>T (p.His697Leu)
n.2221A>T
c.2486A>T (p.His829Leu)
n.2666A>T
n.2646A>T
c.2138A>T (p.His713Leu)
n.2631A>T
20g.3228907T>CCA408086973SLC4A11c.2123A>G (p.His708Arg)
c.2054A>G (p.His685Arg)
c.1994A>G (p.His665Arg)
c.2009A>G (p.His670Arg)
c.2171A>G (p.His724Arg)
c.2252A>G (p.His751Arg)
c.*271A>G (n.*271A>G)
c.2492A>G (p.His831Arg)
c.2066A>G (p.His689Arg)
c.2090A>G (p.His697Arg)
n.2221A>G
c.2486A>G (p.His829Arg)
n.2666A>G
n.2646A>G
c.2138A>G (p.His713Arg)
n.2631A>G
 dbSNP gnomAD v3 gnomAD v4
20g.3228907T>GCA408086974SLC4A11c.2123A>C (p.His708Pro)
c.2054A>C (p.His685Pro)
c.1994A>C (p.His665Pro)
c.2009A>C (p.His670Pro)
c.2171A>C (p.His724Pro)
c.2252A>C (p.His751Pro)
c.*271A>C (n.*271A>C)
c.2492A>C (p.His831Pro)
c.2066A>C (p.His689Pro)
c.2090A>C (p.His697Pro)
n.2221A>C
c.2486A>C (p.His829Pro)
n.2666A>C
n.2646A>C
c.2138A>C (p.His713Pro)
n.2631A>C
20g.3228907T=CA2346475233SLC4A11c.2123A= (p.His708=)
c.2054A= (p.His685=)
c.1994A= (p.His665=)
c.2009A= (p.His670=)
c.2171A= (p.His724=)
c.2252A= (p.His751=)
c.*271A= (n.*271A=)
c.2492A= (p.His831=)
c.2066A= (p.His689=)
c.2090A= (p.His697=)
n.2221A=
c.2486A= (p.His829=)
n.2666A=
n.2646A=
c.2138A= (p.His713=)
n.2631A=
20g.3228907_3228908delinsTGCA2346475234SLC4A11c.2122_2123delinsCA (p.His708=)
c.2053_2054delinsCA (p.His685=)
c.1993_1994delinsCA (p.His665=)
c.2008_2009delinsCA (p.His670=)
c.2170_2171delinsCA (p.His724=)
c.2251_2252delinsCA (p.His751=)
c.*270_*271delinsCA (n.*270_*271delinsCA)
c.2491_2492delinsCA (p.His831=)
c.2065_2066delinsCA (p.His689=)
c.2089_2090delinsCA (p.His697=)
n.2220_2221delinsCA
c.2485_2486delinsCA (p.His829=)
n.2665_2666delinsCA
n.2645_2646delinsCA
c.2137_2138delinsCA (p.His713=)
n.2630_2631delinsCA
20g.3228908G>ACA408086975SLC4A11c.2122C>T (p.His708Tyr)
c.2053C>T (p.His685Tyr)
c.1993C>T (p.His665Tyr)
c.2008C>T (p.His670Tyr)
c.2170C>T (p.His724Tyr)
c.2251C>T (p.His751Tyr)
c.*270C>T (n.*270C>T)
c.2491C>T (p.His831Tyr)
c.2065C>T (p.His689Tyr)
c.2089C>T (p.His697Tyr)
n.2220C>T
c.2485C>T (p.His829Tyr)
n.2665C>T
n.2645C>T
c.2137C>T (p.His713Tyr)
n.2630C>T
 gnomAD v4
20g.3228908G>CCA408086976SLC4A11c.2122C>G (p.His708Asp)
c.2053C>G (p.His685Asp)
c.1993C>G (p.His665Asp)
c.2008C>G (p.His670Asp)
c.2170C>G (p.His724Asp)
c.2251C>G (p.His751Asp)
c.*270C>G (n.*270C>G)
c.2491C>G (p.His831Asp)
c.2065C>G (p.His689Asp)
c.2089C>G (p.His697Asp)
n.2220C>G
c.2485C>G (p.His829Asp)
n.2665C>G
n.2645C>G
c.2137C>G (p.His713Asp)
n.2630C>G
20g.3228908G=CA2346475235SLC4A11c.2122C= (p.His708=)
c.2053C= (p.His685=)
c.1993C= (p.His665=)
c.2008C= (p.His670=)
c.2170C= (p.His724=)
c.2251C= (p.His751=)
c.*270C= (n.*270C=)
c.2491C= (p.His831=)
c.2065C= (p.His689=)
c.2089C= (p.His697=)
n.2220C=
c.2485C= (p.His829=)
n.2665C=
n.2645C=
c.2137C= (p.His713=)
n.2630C=
20g.3228908G>TCA9741587SLC4A11c.2122C>A (p.His708Asn)
c.2053C>A (p.His685Asn)
c.1993C>A (p.His665Asn)
c.2008C>A (p.His670Asn)
c.2170C>A (p.His724Asn)
c.2251C>A (p.His751Asn)
c.*270C>A (n.*270C>A)
c.2491C>A (p.His831Asn)
c.2065C>A (p.His689Asn)
c.2089C>A (p.His697Asn)
n.2220C>A
c.2485C>A (p.His829Asn)
n.2665C>A
n.2645C>A
c.2137C>A (p.His713Asn)
n.2630C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228912delCA634329259SLC4A11c.2122del (p.His708ThrfsTer11)
c.2053del (p.His685ThrfsTer11)
c.1993del (p.His665ThrfsTer11)
c.2008del (p.His670ThrfsTer11)
c.2170del (p.His724ThrfsTer11)
c.2251del (p.His751ThrfsTer11)
c.*270del (n.*270del)
c.2491del (p.His831ThrfsTer11)
c.2065del (p.His689ThrfsTer11)
c.2089del (p.His697ThrfsTer11)
n.2220del
c.2485del (p.His829ThrfsTer11)
n.2665del
n.2645del
c.2137del (p.His713ThrfsTer11)
n.2630del
 dbSNP gnomAD v2 gnomAD v4
20g.3228909G>ACA509558223SLC4A11c.2121C>T (p.Pro707=)
c.2052C>T (p.Pro684=)
c.1992C>T (p.Pro664=)
c.2007C>T (p.Pro669=)
c.2169C>T (p.Pro723=)
c.2250C>T (p.Pro750=)
c.*269C>T (n.*269C>T)
c.2490C>T (p.Pro830=)
c.2064C>T (p.Pro688=)
c.2088C>T (p.Pro696=)
n.2219C>T
c.2484C>T (p.Pro828=)
n.2664C>T
n.2644C>T
c.2136C>T (p.Pro712=)
n.2629C>T
 dbSNP
20g.3228909G>CCA509558224SLC4A11c.2121C>G (p.Pro707=)
c.2052C>G (p.Pro684=)
c.1992C>G (p.Pro664=)
c.2007C>G (p.Pro669=)
c.2169C>G (p.Pro723=)
c.2250C>G (p.Pro750=)
c.*269C>G (n.*269C>G)
c.2490C>G (p.Pro830=)
c.2064C>G (p.Pro688=)
c.2088C>G (p.Pro696=)
n.2219C>G
c.2484C>G (p.Pro828=)
n.2664C>G
n.2644C>G
c.2136C>G (p.Pro712=)
n.2629C>G
 ClinVar dbSNP
20g.3228909G=CA2346475236SLC4A11c.2121C= (p.Pro707=)
c.2052C= (p.Pro684=)
c.1992C= (p.Pro664=)
c.2007C= (p.Pro669=)
c.2169C= (p.Pro723=)
c.2250C= (p.Pro750=)
c.*269C= (n.*269C=)
c.2490C= (p.Pro830=)
c.2064C= (p.Pro688=)
c.2088C= (p.Pro696=)
n.2219C=
c.2484C= (p.Pro828=)
n.2664C=
n.2644C=
c.2136C= (p.Pro712=)
n.2629C=
20g.3228909G>TCA509558225SLC4A11c.2121C>A (p.Pro707=)
c.2052C>A (p.Pro684=)
c.1992C>A (p.Pro664=)
c.2007C>A (p.Pro669=)
c.2169C>A (p.Pro723=)
c.2250C>A (p.Pro750=)
c.*269C>A (n.*269C>A)
c.2490C>A (p.Pro830=)
c.2064C>A (p.Pro688=)
c.2088C>A (p.Pro696=)
n.2219C>A
c.2484C>A (p.Pro828=)
n.2664C>A
n.2644C>A
c.2136C>A (p.Pro712=)
n.2629C>A
 ClinVar
20g.3228910G>ACA408086977SLC4A11c.2120C>T (p.Pro707Leu)
c.2051C>T (p.Pro684Leu)
c.1991C>T (p.Pro664Leu)
c.2006C>T (p.Pro669Leu)
c.2168C>T (p.Pro723Leu)
c.2249C>T (p.Pro750Leu)
c.*268C>T (n.*268C>T)
c.2489C>T (p.Pro830Leu)
c.2063C>T (p.Pro688Leu)
c.2087C>T (p.Pro696Leu)
n.2218C>T
c.2483C>T (p.Pro828Leu)
n.2663C>T
n.2643C>T
c.2135C>T (p.Pro712Leu)
n.2628C>T
 gnomAD v4
20g.3228910G>CCA408086978SLC4A11c.2120C>G (p.Pro707Arg)
c.2051C>G (p.Pro684Arg)
c.1991C>G (p.Pro664Arg)
c.2006C>G (p.Pro669Arg)
c.2168C>G (p.Pro723Arg)
c.2249C>G (p.Pro750Arg)
c.*268C>G (n.*268C>G)
c.2489C>G (p.Pro830Arg)
c.2063C>G (p.Pro688Arg)
c.2087C>G (p.Pro696Arg)
n.2218C>G
c.2483C>G (p.Pro828Arg)
n.2663C>G
n.2643C>G
c.2135C>G (p.Pro712Arg)
n.2628C>G
20g.3228910G>TCA408086979SLC4A11c.2120C>A (p.Pro707His)
c.2051C>A (p.Pro684His)
c.1991C>A (p.Pro664His)
c.2006C>A (p.Pro669His)
c.2168C>A (p.Pro723His)
c.2249C>A (p.Pro750His)
c.*268C>A (n.*268C>A)
c.2489C>A (p.Pro830His)
c.2063C>A (p.Pro688His)
c.2087C>A (p.Pro696His)
n.2218C>A
c.2483C>A (p.Pro828His)
n.2663C>A
n.2643C>A
c.2135C>A (p.Pro712His)
n.2628C>A
20g.3228911G>ACA408086980SLC4A11c.2119C>T (p.Pro707Ser)
c.2050C>T (p.Pro684Ser)
c.1990C>T (p.Pro664Ser)
c.2005C>T (p.Pro669Ser)
c.2167C>T (p.Pro723Ser)
c.2248C>T (p.Pro750Ser)
c.*267C>T (n.*267C>T)
c.2488C>T (p.Pro830Ser)
c.2062C>T (p.Pro688Ser)
c.2086C>T (p.Pro696Ser)
n.2217C>T
c.2482C>T (p.Pro828Ser)
n.2662C>T
n.2642C>T
c.2134C>T (p.Pro712Ser)
n.2627C>T
 COSMIC COSMIC
20g.3228911G>CCA408086981SLC4A11c.2119C>G (p.Pro707Ala)
c.2050C>G (p.Pro684Ala)
c.1990C>G (p.Pro664Ala)
c.2005C>G (p.Pro669Ala)
c.2167C>G (p.Pro723Ala)
c.2248C>G (p.Pro750Ala)
c.*267C>G (n.*267C>G)
c.2488C>G (p.Pro830Ala)
c.2062C>G (p.Pro688Ala)
c.2086C>G (p.Pro696Ala)
n.2217C>G
c.2482C>G (p.Pro828Ala)
n.2662C>G
n.2642C>G
c.2134C>G (p.Pro712Ala)
n.2627C>G
20g.3228911G>TCA408086982SLC4A11c.2119C>A (p.Pro707Thr)
c.2050C>A (p.Pro684Thr)
c.1990C>A (p.Pro664Thr)
c.2005C>A (p.Pro669Thr)
c.2167C>A (p.Pro723Thr)
c.2248C>A (p.Pro750Thr)
c.*267C>A (n.*267C>A)
c.2488C>A (p.Pro830Thr)
c.2062C>A (p.Pro688Thr)
c.2086C>A (p.Pro696Thr)
n.2217C>A
c.2482C>A (p.Pro828Thr)
n.2662C>A
n.2642C>A
c.2134C>A (p.Pro712Thr)
n.2627C>A
20g.3228912G>ACA9741588SLC4A11c.2118C>T (p.Tyr706=)
c.2049C>T (p.Tyr683=)
c.1989C>T (p.Tyr663=)
c.2004C>T (p.Tyr668=)
c.2166C>T (p.Tyr722=)
c.2247C>T (p.Tyr749=)
c.*266C>T (n.*266C>T)
c.2487C>T (p.Tyr829=)
c.2061C>T (p.Tyr687=)
c.2085C>T (p.Tyr695=)
n.2216C>T
c.2481C>T (p.Tyr827=)
n.2661C>T
n.2641C>T
c.2133C>T (p.Tyr711=)
n.2626C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228912G>CCA408086984SLC4A11c.2118C>G (p.Tyr706Ter)
c.2049C>G (p.Tyr683Ter)
c.1989C>G (p.Tyr663Ter)
c.2004C>G (p.Tyr668Ter)
c.2166C>G (p.Tyr722Ter)
c.2247C>G (p.Tyr749Ter)
c.*266C>G (n.*266C>G)
c.2487C>G (p.Tyr829Ter)
c.2061C>G (p.Tyr687Ter)
c.2085C>G (p.Tyr695Ter)
n.2216C>G
c.2481C>G (p.Tyr827Ter)
n.2661C>G
n.2641C>G
c.2133C>G (p.Tyr711Ter)
n.2626C>G
20g.3228912G=CA2346475237SLC4A11c.2118C= (p.Tyr706=)
c.2049C= (p.Tyr683=)
c.1989C= (p.Tyr663=)
c.2004C= (p.Tyr668=)
c.2166C= (p.Tyr722=)
c.2247C= (p.Tyr749=)
c.*266C= (n.*266C=)
c.2487C= (p.Tyr829=)
c.2061C= (p.Tyr687=)
c.2085C= (p.Tyr695=)
n.2216C=
c.2481C= (p.Tyr827=)
n.2661C=
n.2641C=
c.2133C= (p.Tyr711=)
n.2626C=
20g.3228912G>TCA408086983SLC4A11c.2118C>A (p.Tyr706Ter)
c.2049C>A (p.Tyr683Ter)
c.1989C>A (p.Tyr663Ter)
c.2004C>A (p.Tyr668Ter)
c.2166C>A (p.Tyr722Ter)
c.2247C>A (p.Tyr749Ter)
c.*266C>A (n.*266C>A)
c.2487C>A (p.Tyr829Ter)
c.2061C>A (p.Tyr687Ter)
c.2085C>A (p.Tyr695Ter)
n.2216C>A
c.2481C>A (p.Tyr827Ter)
n.2661C>A
n.2641C>A
c.2133C>A (p.Tyr711Ter)
n.2626C>A
20g.3228913T>ACA408086985SLC4A11c.2117A>T (p.Tyr706Phe)
c.2048A>T (p.Tyr683Phe)
c.1988A>T (p.Tyr663Phe)
c.2003A>T (p.Tyr668Phe)
c.2165A>T (p.Tyr722Phe)
c.2246A>T (p.Tyr749Phe)
c.*265A>T (n.*265A>T)
c.2486A>T (p.Tyr829Phe)
c.2060A>T (p.Tyr687Phe)
c.2084A>T (p.Tyr695Phe)
n.2215A>T
c.2480A>T (p.Tyr827Phe)
n.2660A>T
n.2640A>T
c.2132A>T (p.Tyr711Phe)
n.2625A>T
 gnomAD v4
20g.3228913T>CCA408086986SLC4A11c.2117A>G (p.Tyr706Cys)
c.2048A>G (p.Tyr683Cys)
c.1988A>G (p.Tyr663Cys)
c.2003A>G (p.Tyr668Cys)
c.2165A>G (p.Tyr722Cys)
c.2246A>G (p.Tyr749Cys)
c.*265A>G (n.*265A>G)
c.2486A>G (p.Tyr829Cys)
c.2060A>G (p.Tyr687Cys)
c.2084A>G (p.Tyr695Cys)
n.2215A>G
c.2480A>G (p.Tyr827Cys)
n.2660A>G
n.2640A>G
c.2132A>G (p.Tyr711Cys)
n.2625A>G
20g.3228913T>GCA408086987SLC4A11c.2117A>C (p.Tyr706Ser)
c.2048A>C (p.Tyr683Ser)
c.1988A>C (p.Tyr663Ser)
c.2003A>C (p.Tyr668Ser)
c.2165A>C (p.Tyr722Ser)
c.2246A>C (p.Tyr749Ser)
c.*265A>C (n.*265A>C)
c.2486A>C (p.Tyr829Ser)
c.2060A>C (p.Tyr687Ser)
c.2084A>C (p.Tyr695Ser)
n.2215A>C
c.2480A>C (p.Tyr827Ser)
n.2660A>C
n.2640A>C
c.2132A>C (p.Tyr711Ser)
n.2625A>C
20g.3228914A>CCA408086988SLC4A11c.2116T>G (p.Tyr706Asp)
c.2047T>G (p.Tyr683Asp)
c.1987T>G (p.Tyr663Asp)
c.2002T>G (p.Tyr668Asp)
c.2164T>G (p.Tyr722Asp)
c.2245T>G (p.Tyr749Asp)
c.*264T>G (n.*264T>G)
c.2485T>G (p.Tyr829Asp)
c.2059T>G (p.Tyr687Asp)
c.2083T>G (p.Tyr695Asp)
n.2214T>G
c.2479T>G (p.Tyr827Asp)
n.2659T>G
n.2639T>G
c.2131T>G (p.Tyr711Asp)
n.2624T>G
20g.3228914A>GCA408086989SLC4A11c.2116T>C (p.Tyr706His)
c.2047T>C (p.Tyr683His)
c.1987T>C (p.Tyr663His)
c.2002T>C (p.Tyr668His)
c.2164T>C (p.Tyr722His)
c.2245T>C (p.Tyr749His)
c.*264T>C (n.*264T>C)
c.2485T>C (p.Tyr829His)
c.2059T>C (p.Tyr687His)
c.2083T>C (p.Tyr695His)
n.2214T>C
c.2479T>C (p.Tyr827His)
n.2659T>C
n.2639T>C
c.2131T>C (p.Tyr711His)
n.2624T>C
20g.3228914A>TCA408086990SLC4A11c.2116T>A (p.Tyr706Asn)
c.2047T>A (p.Tyr683Asn)
c.1987T>A (p.Tyr663Asn)
c.2002T>A (p.Tyr668Asn)
c.2164T>A (p.Tyr722Asn)
c.2245T>A (p.Tyr749Asn)
c.*264T>A (n.*264T>A)
c.2485T>A (p.Tyr829Asn)
c.2059T>A (p.Tyr687Asn)
c.2083T>A (p.Tyr695Asn)
n.2214T>A
c.2479T>A (p.Tyr827Asn)
n.2659T>A
n.2639T>A
c.2131T>A (p.Tyr711Asn)
n.2624T>A
20g.3228915G>ACA509558233SLC4A11c.2115C>T (p.Ala705=)
c.2046C>T (p.Ala682=)
c.1986C>T (p.Ala662=)
c.2001C>T (p.Ala667=)
c.2163C>T (p.Ala721=)
c.2244C>T (p.Ala748=)
c.*263C>T (n.*263C>T)
c.2484C>T (p.Ala828=)
c.2058C>T (p.Ala686=)
c.2082C>T (p.Ala694=)
n.2213C>T
c.2478C>T (p.Ala826=)
n.2658C>T
n.2638C>T
c.2130C>T (p.Ala710=)
n.2623C>T
20g.3228915G>CCA509558234SLC4A11c.2115C>G (p.Ala705=)
c.2046C>G (p.Ala682=)
c.1986C>G (p.Ala662=)
c.2001C>G (p.Ala667=)
c.2163C>G (p.Ala721=)
c.2244C>G (p.Ala748=)
c.*263C>G (n.*263C>G)
c.2484C>G (p.Ala828=)
c.2058C>G (p.Ala686=)
c.2082C>G (p.Ala694=)
n.2213C>G
c.2478C>G (p.Ala826=)
n.2658C>G
n.2638C>G
c.2130C>G (p.Ala710=)
n.2623C>G
20g.3228915G>TCA509558235SLC4A11c.2115C>A (p.Ala705=)
c.2046C>A (p.Ala682=)
c.1986C>A (p.Ala662=)
c.2001C>A (p.Ala667=)
c.2163C>A (p.Ala721=)
c.2244C>A (p.Ala748=)
c.*263C>A (n.*263C>A)
c.2484C>A (p.Ala828=)
c.2058C>A (p.Ala686=)
c.2082C>A (p.Ala694=)
n.2213C>A
c.2478C>A (p.Ala826=)
n.2658C>A
n.2638C>A
c.2130C>A (p.Ala710=)
n.2623C>A
20g.3228916G>ACA408086991SLC4A11c.2114C>T (p.Ala705Val)
c.2045C>T (p.Ala682Val)
c.1985C>T (p.Ala662Val)
c.2000C>T (p.Ala667Val)
c.2162C>T (p.Ala721Val)
c.2243C>T (p.Ala748Val)
c.*262C>T (n.*262C>T)
c.2483C>T (p.Ala828Val)
c.2057C>T (p.Ala686Val)
c.2081C>T (p.Ala694Val)
n.2212C>T
c.2477C>T (p.Ala826Val)
n.2657C>T
n.2637C>T
c.2129C>T (p.Ala710Val)
n.2622C>T
 gnomAD v4
20g.3228916G>CCA408086992SLC4A11c.2114C>G (p.Ala705Gly)
c.2045C>G (p.Ala682Gly)
c.1985C>G (p.Ala662Gly)
c.2000C>G (p.Ala667Gly)
c.2162C>G (p.Ala721Gly)
c.2243C>G (p.Ala748Gly)
c.*262C>G (n.*262C>G)
c.2483C>G (p.Ala828Gly)
c.2057C>G (p.Ala686Gly)
c.2081C>G (p.Ala694Gly)
n.2212C>G
c.2477C>G (p.Ala826Gly)
n.2657C>G
n.2637C>G
c.2129C>G (p.Ala710Gly)
n.2622C>G
20g.3228916G>TCA408086993SLC4A11c.2114C>A (p.Ala705Asp)
c.2045C>A (p.Ala682Asp)
c.1985C>A (p.Ala662Asp)
c.2000C>A (p.Ala667Asp)
c.2162C>A (p.Ala721Asp)
c.2243C>A (p.Ala748Asp)
c.*262C>A (n.*262C>A)
c.2483C>A (p.Ala828Asp)
c.2057C>A (p.Ala686Asp)
c.2081C>A (p.Ala694Asp)
n.2212C>A
c.2477C>A (p.Ala826Asp)
n.2657C>A
n.2637C>A
c.2129C>A (p.Ala710Asp)
n.2622C>A
20g.3228917C>ACA408086994SLC4A11c.2113G>T (p.Ala705Ser)
c.2044G>T (p.Ala682Ser)
c.1984G>T (p.Ala662Ser)
c.1999G>T (p.Ala667Ser)
c.2161G>T (p.Ala721Ser)
c.2242G>T (p.Ala748Ser)
c.*261G>T (n.*261G>T)
c.2482G>T (p.Ala828Ser)
c.2056G>T (p.Ala686Ser)
c.2080G>T (p.Ala694Ser)
n.2211G>T
c.2476G>T (p.Ala826Ser)
n.2656G>T
n.2636G>T
c.2128G>T (p.Ala710Ser)
n.2621G>T
20g.3228917C=CA2346475238SLC4A11c.2113G= (p.Ala705=)
c.2044G= (p.Ala682=)
c.1984G= (p.Ala662=)
c.1999G= (p.Ala667=)
c.2161G= (p.Ala721=)
c.2242G= (p.Ala748=)
c.*261G= (n.*261G=)
c.2482G= (p.Ala828=)
c.2056G= (p.Ala686=)
c.2080G= (p.Ala694=)
n.2211G=
c.2476G= (p.Ala826=)
n.2656G=
n.2636G=
c.2128G= (p.Ala710=)
n.2621G=
20g.3228917C>GCA408086995SLC4A11c.2113G>C (p.Ala705Pro)
c.2044G>C (p.Ala682Pro)
c.1984G>C (p.Ala662Pro)
c.1999G>C (p.Ala667Pro)
c.2161G>C (p.Ala721Pro)
c.2242G>C (p.Ala748Pro)
c.*261G>C (n.*261G>C)
c.2482G>C (p.Ala828Pro)
c.2056G>C (p.Ala686Pro)
c.2080G>C (p.Ala694Pro)
n.2211G>C
c.2476G>C (p.Ala826Pro)
n.2656G>C
n.2636G>C
c.2128G>C (p.Ala710Pro)
n.2621G>C
20g.3228917C>TCA9741589SLC4A11c.2113G>A (p.Ala705Thr)
c.2044G>A (p.Ala682Thr)
c.1984G>A (p.Ala662Thr)
c.1999G>A (p.Ala667Thr)
c.2161G>A (p.Ala721Thr)
c.2242G>A (p.Ala748Thr)
c.*261G>A (n.*261G>A)
c.2482G>A (p.Ala828Thr)
c.2056G>A (p.Ala686Thr)
c.2080G>A (p.Ala694Thr)
n.2211G>A
c.2476G>A (p.Ala826Thr)
n.2656G>A
n.2636G>A
c.2128G>A (p.Ala710Thr)
n.2621G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.3228918G>ACA9741590SLC4A11c.2112C>T (p.Ala704=)
c.2043C>T (p.Ala681=)
c.1983C>T (p.Ala661=)
c.1998C>T (p.Ala666=)
c.2160C>T (p.Ala720=)
c.2241C>T (p.Ala747=)
c.*260C>T (n.*260C>T)
c.2481C>T (p.Ala827=)
c.2055C>T (p.Ala685=)
c.2079C>T (p.Ala693=)
n.2210C>T
c.2475C>T (p.Ala825=)
n.2655C>T
n.2635C>T
c.2127C>T (p.Ala709=)
n.2620C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228918G>CCA509558237SLC4A11c.2112C>G (p.Ala704=)
c.2043C>G (p.Ala681=)
c.1983C>G (p.Ala661=)
c.1998C>G (p.Ala666=)
c.2160C>G (p.Ala720=)
c.2241C>G (p.Ala747=)
c.*260C>G (n.*260C>G)
c.2481C>G (p.Ala827=)
c.2055C>G (p.Ala685=)
c.2079C>G (p.Ala693=)
n.2210C>G
c.2475C>G (p.Ala825=)
n.2655C>G
n.2635C>G
c.2127C>G (p.Ala709=)
n.2620C>G
20g.3228918G=CA2346475239SLC4A11c.2112C= (p.Ala704=)
c.2043C= (p.Ala681=)
c.1983C= (p.Ala661=)
c.1998C= (p.Ala666=)
c.2160C= (p.Ala720=)
c.2241C= (p.Ala747=)
c.*260C= (n.*260C=)
c.2481C= (p.Ala827=)
c.2055C= (p.Ala685=)
c.2079C= (p.Ala693=)
n.2210C=
c.2475C= (p.Ala825=)
n.2655C=
n.2635C=
c.2127C= (p.Ala709=)
n.2620C=
20g.3228918G>TCA509558238SLC4A11c.2112C>A (p.Ala704=)
c.2043C>A (p.Ala681=)
c.1983C>A (p.Ala661=)
c.1998C>A (p.Ala666=)
c.2160C>A (p.Ala720=)
c.2241C>A (p.Ala747=)
c.*260C>A (n.*260C>A)
c.2481C>A (p.Ala827=)
c.2055C>A (p.Ala685=)
c.2079C>A (p.Ala693=)
n.2210C>A
c.2475C>A (p.Ala825=)
n.2655C>A
n.2635C>A
c.2127C>A (p.Ala709=)
n.2620C>A
20g.3228919G>ACA310985932SLC4A11c.2111C>T (p.Ala704Val)
c.2042C>T (p.Ala681Val)
c.1982C>T (p.Ala661Val)
c.1997C>T (p.Ala666Val)
c.2159C>T (p.Ala720Val)
c.2240C>T (p.Ala747Val)
c.*259C>T (n.*259C>T)
c.2480C>T (p.Ala827Val)
c.2054C>T (p.Ala685Val)
c.2078C>T (p.Ala693Val)
n.2209C>T
c.2474C>T (p.Ala825Val)
n.2654C>T
n.2634C>T
c.2126C>T (p.Ala709Val)
n.2619C>T
 dbSNP COSMIC COSMIC
20g.3228919G>CCA408086996SLC4A11c.2111C>G (p.Ala704Gly)
c.2042C>G (p.Ala681Gly)
c.1982C>G (p.Ala661Gly)
c.1997C>G (p.Ala666Gly)
c.2159C>G (p.Ala720Gly)
c.2240C>G (p.Ala747Gly)
c.*259C>G (n.*259C>G)
c.2480C>G (p.Ala827Gly)
c.2054C>G (p.Ala685Gly)
c.2078C>G (p.Ala693Gly)
n.2209C>G
c.2474C>G (p.Ala825Gly)
n.2654C>G
n.2634C>G
c.2126C>G (p.Ala709Gly)
n.2619C>G
20g.3228919G=CA2346475240SLC4A11c.2111C= (p.Ala704=)
c.2042C= (p.Ala681=)
c.1982C= (p.Ala661=)
c.1997C= (p.Ala666=)
c.2159C= (p.Ala720=)
c.2240C= (p.Ala747=)
c.*259C= (n.*259C=)
c.2480C= (p.Ala827=)
c.2054C= (p.Ala685=)
c.2078C= (p.Ala693=)
n.2209C=
c.2474C= (p.Ala825=)
n.2654C=
n.2634C=
c.2126C= (p.Ala709=)
n.2619C=
20g.3228919G>TCA408086997SLC4A11c.2111C>A (p.Ala704Asp)
c.2042C>A (p.Ala681Asp)
c.1982C>A (p.Ala661Asp)
c.1997C>A (p.Ala666Asp)
c.2159C>A (p.Ala720Asp)
c.2240C>A (p.Ala747Asp)
c.*259C>A (n.*259C>A)
c.2480C>A (p.Ala827Asp)
c.2054C>A (p.Ala685Asp)
c.2078C>A (p.Ala693Asp)
n.2209C>A
c.2474C>A (p.Ala825Asp)
n.2654C>A
n.2634C>A
c.2126C>A (p.Ala709Asp)
n.2619C>A
 gnomAD v4
20g.3228920C>ACA408086998SLC4A11c.2110G>T (p.Ala704Ser)
c.2041G>T (p.Ala681Ser)
c.1981G>T (p.Ala661Ser)
c.1996G>T (p.Ala666Ser)
c.2158G>T (p.Ala720Ser)
c.2239G>T (p.Ala747Ser)
c.*258G>T (n.*258G>T)
c.2479G>T (p.Ala827Ser)
c.2053G>T (p.Ala685Ser)
c.2077G>T (p.Ala693Ser)
n.2208G>T
c.2473G>T (p.Ala825Ser)
n.2653G>T
n.2633G>T
c.2125G>T (p.Ala709Ser)
n.2618G>T
20g.3228920C>GCA408086999SLC4A11c.2110G>C (p.Ala704Pro)
c.2041G>C (p.Ala681Pro)
c.1981G>C (p.Ala661Pro)
c.1996G>C (p.Ala666Pro)
c.2158G>C (p.Ala720Pro)
c.2239G>C (p.Ala747Pro)
c.*258G>C (n.*258G>C)
c.2479G>C (p.Ala827Pro)
c.2053G>C (p.Ala685Pro)
c.2077G>C (p.Ala693Pro)
n.2208G>C
c.2473G>C (p.Ala825Pro)
n.2653G>C
n.2633G>C
c.2125G>C (p.Ala709Pro)
n.2618G>C
20g.3228920C>TCA408087000SLC4A11c.2110G>A (p.Ala704Thr)
c.2041G>A (p.Ala681Thr)
c.1981G>A (p.Ala661Thr)
c.1996G>A (p.Ala666Thr)
c.2158G>A (p.Ala720Thr)
c.2239G>A (p.Ala747Thr)
c.*258G>A (n.*258G>A)
c.2479G>A (p.Ala827Thr)
c.2053G>A (p.Ala685Thr)
c.2077G>A (p.Ala693Thr)
n.2208G>A
c.2473G>A (p.Ala825Thr)
n.2653G>A
n.2633G>A
c.2125G>A (p.Ala709Thr)
n.2618G>A
20g.3228921A=CA2346475241SLC4A11c.2109T= (p.His703=)
c.2040T= (p.His680=)
c.1980T= (p.His660=)
c.1995T= (p.His665=)
c.2157T= (p.His719=)
c.2238T= (p.His746=)
c.*257T= (n.*257T=)
c.2478T= (p.His826=)
c.2052T= (p.His684=)
c.2076T= (p.His692=)
n.2207T=
c.2472T= (p.His824=)
n.2652T=
n.2632T=
c.2124T= (p.His708=)
n.2617T=
20g.3228921A>CCA408087001SLC4A11c.2109T>G (p.His703Gln)
c.2040T>G (p.His680Gln)
c.1980T>G (p.His660Gln)
c.1995T>G (p.His665Gln)
c.2157T>G (p.His719Gln)
c.2238T>G (p.His746Gln)
c.*257T>G (n.*257T>G)
c.2478T>G (p.His826Gln)
c.2052T>G (p.His684Gln)
c.2076T>G (p.His692Gln)
n.2207T>G
c.2472T>G (p.His824Gln)
n.2652T>G
n.2632T>G
c.2124T>G (p.His708Gln)
n.2617T>G
20g.3228921A>GCA9741591SLC4A11c.2109T>C (p.His703=)
c.2040T>C (p.His680=)
c.1980T>C (p.His660=)
c.1995T>C (p.His665=)
c.2157T>C (p.His719=)
c.2238T>C (p.His746=)
c.*257T>C (n.*257T>C)
c.2478T>C (p.His826=)
c.2052T>C (p.His684=)
c.2076T>C (p.His692=)
n.2207T>C
c.2472T>C (p.His824=)
n.2652T>C
n.2632T>C
c.2124T>C (p.His708=)
n.2617T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228921A>TCA408087002SLC4A11c.2109T>A (p.His703Gln)
c.2040T>A (p.His680Gln)
c.1980T>A (p.His660Gln)
c.1995T>A (p.His665Gln)
c.2157T>A (p.His719Gln)
c.2238T>A (p.His746Gln)
c.*257T>A (n.*257T>A)
c.2478T>A (p.His826Gln)
c.2052T>A (p.His684Gln)
c.2076T>A (p.His692Gln)
n.2207T>A
c.2472T>A (p.His824Gln)
n.2652T>A
n.2632T>A
c.2124T>A (p.His708Gln)
n.2617T>A
20g.3228922T>ACA408087003SLC4A11c.2108A>T (p.His703Leu)
c.2039A>T (p.His680Leu)
c.1979A>T (p.His660Leu)
c.1994A>T (p.His665Leu)
c.2156A>T (p.His719Leu)
c.2237A>T (p.His746Leu)
c.*256A>T (n.*256A>T)
c.2477A>T (p.His826Leu)
c.2051A>T (p.His684Leu)
c.2075A>T (p.His692Leu)
n.2206A>T
c.2471A>T (p.His824Leu)
n.2651A>T
n.2631A>T
c.2123A>T (p.His708Leu)
n.2616A>T
20g.3228922T>CCA408087004SLC4A11c.2108A>G (p.His703Arg)
c.2039A>G (p.His680Arg)
c.1979A>G (p.His660Arg)
c.1994A>G (p.His665Arg)
c.2156A>G (p.His719Arg)
c.2237A>G (p.His746Arg)
c.*256A>G (n.*256A>G)
c.2477A>G (p.His826Arg)
c.2051A>G (p.His684Arg)
c.2075A>G (p.His692Arg)
n.2206A>G
c.2471A>G (p.His824Arg)
n.2651A>G
n.2631A>G
c.2123A>G (p.His708Arg)
n.2616A>G
 dbSNP gnomAD v2 gnomAD v4
20g.3228922T>GCA408087005SLC4A11c.2108A>C (p.His703Pro)
c.2039A>C (p.His680Pro)
c.1979A>C (p.His660Pro)
c.1994A>C (p.His665Pro)
c.2156A>C (p.His719Pro)
c.2237A>C (p.His746Pro)
c.*256A>C (n.*256A>C)
c.2477A>C (p.His826Pro)
c.2051A>C (p.His684Pro)
c.2075A>C (p.His692Pro)
n.2206A>C
c.2471A>C (p.His824Pro)
n.2651A>C
n.2631A>C
c.2123A>C (p.His708Pro)
n.2616A>C
20g.3228922T=CA2346475242SLC4A11c.2108A= (p.His703=)
c.2039A= (p.His680=)
c.1979A= (p.His660=)
c.1994A= (p.His665=)
c.2156A= (p.His719=)
c.2237A= (p.His746=)
c.*256A= (n.*256A=)
c.2477A= (p.His826=)
c.2051A= (p.His684=)
c.2075A= (p.His692=)
n.2206A=
c.2471A= (p.His824=)
n.2651A=
n.2631A=
c.2123A= (p.His708=)
n.2616A=
20g.3228923G>ACA408087006SLC4A11c.2107C>T (p.His703Tyr)
c.2038C>T (p.His680Tyr)
c.1978C>T (p.His660Tyr)
c.1993C>T (p.His665Tyr)
c.2155C>T (p.His719Tyr)
c.2236C>T (p.His746Tyr)
c.*255C>T (n.*255C>T)
c.2476C>T (p.His826Tyr)
c.2050C>T (p.His684Tyr)
c.2074C>T (p.His692Tyr)
n.2205C>T
c.2470C>T (p.His824Tyr)
n.2650C>T
n.2630C>T
c.2122C>T (p.His708Tyr)
n.2615C>T
 gnomAD v4 COSMIC COSMIC
20g.3228923G>CCA408087007SLC4A11c.2107C>G (p.His703Asp)
c.2038C>G (p.His680Asp)
c.1978C>G (p.His660Asp)
c.1993C>G (p.His665Asp)
c.2155C>G (p.His719Asp)
c.2236C>G (p.His746Asp)
c.*255C>G (n.*255C>G)
c.2476C>G (p.His826Asp)
c.2050C>G (p.His684Asp)
c.2074C>G (p.His692Asp)
n.2205C>G
c.2470C>G (p.His824Asp)
n.2650C>G
n.2630C>G
c.2122C>G (p.His708Asp)
n.2615C>G
20g.3228923G>TCA408087008SLC4A11c.2107C>A (p.His703Asn)
c.2038C>A (p.His680Asn)
c.1978C>A (p.His660Asn)
c.1993C>A (p.His665Asn)
c.2155C>A (p.His719Asn)
c.2236C>A (p.His746Asn)
c.*255C>A (n.*255C>A)
c.2476C>A (p.His826Asn)
c.2050C>A (p.His684Asn)
c.2074C>A (p.His692Asn)
n.2205C>A
c.2470C>A (p.His824Asn)
n.2650C>A
n.2630C>A
c.2122C>A (p.His708Asn)
n.2615C>A
20g.3228924G>ACA9741592SLC4A11c.2106C>T (p.Ile702=)
c.2037C>T (p.Ile679=)
c.1977C>T (p.Ile659=)
c.1992C>T (p.Ile664=)
c.2154C>T (p.Ile718=)
c.2235C>T (p.Ile745=)
c.*254C>T (n.*254C>T)
c.2475C>T (p.Ile825=)
c.2049C>T (p.Ile683=)
c.2073C>T (p.Ile691=)
n.2204C>T
c.2469C>T (p.Ile823=)
n.2649C>T
n.2629C>T
c.2121C>T (p.Ile707=)
n.2614C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228924G>CCA408087009SLC4A11c.2106C>G (p.Ile702Met)
c.2037C>G (p.Ile679Met)
c.1977C>G (p.Ile659Met)
c.1992C>G (p.Ile664Met)
c.2154C>G (p.Ile718Met)
c.2235C>G (p.Ile745Met)
c.*254C>G (n.*254C>G)
c.2475C>G (p.Ile825Met)
c.2049C>G (p.Ile683Met)
c.2073C>G (p.Ile691Met)
n.2204C>G
c.2469C>G (p.Ile823Met)
n.2649C>G
n.2629C>G
c.2121C>G (p.Ile707Met)
n.2614C>G
20g.3228924G=CA2346475243SLC4A11c.2106C= (p.Ile702=)
c.2037C= (p.Ile679=)
c.1977C= (p.Ile659=)
c.1992C= (p.Ile664=)
c.2154C= (p.Ile718=)
c.2235C= (p.Ile745=)
c.*254C= (n.*254C=)
c.2475C= (p.Ile825=)
c.2049C= (p.Ile683=)
c.2073C= (p.Ile691=)
n.2204C=
c.2469C= (p.Ile823=)
n.2649C=
n.2629C=
c.2121C= (p.Ile707=)
n.2614C=
20g.3228924G>TCA509558244SLC4A11c.2106C>A (p.Ile702=)
c.2037C>A (p.Ile679=)
c.1977C>A (p.Ile659=)
c.1992C>A (p.Ile664=)
c.2154C>A (p.Ile718=)
c.2235C>A (p.Ile745=)
c.*254C>A (n.*254C>A)
c.2475C>A (p.Ile825=)
c.2049C>A (p.Ile683=)
c.2073C>A (p.Ile691=)
n.2204C>A
c.2469C>A (p.Ile823=)
n.2649C>A
n.2629C>A
c.2121C>A (p.Ile707=)
n.2614C>A
20g.3228925A>CCA408087010SLC4A11c.2105T>G (p.Ile702Ser)
c.2036T>G (p.Ile679Ser)
c.1976T>G (p.Ile659Ser)
c.1991T>G (p.Ile664Ser)
c.2153T>G (p.Ile718Ser)
c.2234T>G (p.Ile745Ser)
c.*253T>G (n.*253T>G)
c.2474T>G (p.Ile825Ser)
c.2048T>G (p.Ile683Ser)
c.2072T>G (p.Ile691Ser)
n.2203T>G
c.2468T>G (p.Ile823Ser)
n.2648T>G
n.2628T>G
c.2120T>G (p.Ile707Ser)
n.2613T>G
20g.3228925A>GCA408087012SLC4A11c.2105T>C (p.Ile702Thr)
c.2036T>C (p.Ile679Thr)
c.1976T>C (p.Ile659Thr)
c.1991T>C (p.Ile664Thr)
c.2153T>C (p.Ile718Thr)
c.2234T>C (p.Ile745Thr)
c.*253T>C (n.*253T>C)
c.2474T>C (p.Ile825Thr)
c.2048T>C (p.Ile683Thr)
c.2072T>C (p.Ile691Thr)
n.2203T>C
c.2468T>C (p.Ile823Thr)
n.2648T>C
n.2628T>C
c.2120T>C (p.Ile707Thr)
n.2613T>C
20g.3228925A>TCA408087011SLC4A11c.2105T>A (p.Ile702Asn)
c.2036T>A (p.Ile679Asn)
c.1976T>A (p.Ile659Asn)
c.1991T>A (p.Ile664Asn)
c.2153T>A (p.Ile718Asn)
c.2234T>A (p.Ile745Asn)
c.*253T>A (n.*253T>A)
c.2474T>A (p.Ile825Asn)
c.2048T>A (p.Ile683Asn)
c.2072T>A (p.Ile691Asn)
n.2203T>A
c.2468T>A (p.Ile823Asn)
n.2648T>A
n.2628T>A
c.2120T>A (p.Ile707Asn)
n.2613T>A
20g.3228926T>ACA408087013SLC4A11c.2104A>T (p.Ile702Phe)
c.2035A>T (p.Ile679Phe)
c.1975A>T (p.Ile659Phe)
c.1990A>T (p.Ile664Phe)
c.2152A>T (p.Ile718Phe)
c.2233A>T (p.Ile745Phe)
c.*252A>T (n.*252A>T)
c.2473A>T (p.Ile825Phe)
c.2047A>T (p.Ile683Phe)
c.2071A>T (p.Ile691Phe)
n.2202A>T
c.2467A>T (p.Ile823Phe)
n.2647A>T
n.2627A>T
c.2119A>T (p.Ile707Phe)
n.2612A>T
20g.3228926T>CCA408087014SLC4A11c.2104A>G (p.Ile702Val)
c.2035A>G (p.Ile679Val)
c.1975A>G (p.Ile659Val)
c.1990A>G (p.Ile664Val)
c.2152A>G (p.Ile718Val)
c.2233A>G (p.Ile745Val)
c.*252A>G (n.*252A>G)
c.2473A>G (p.Ile825Val)
c.2047A>G (p.Ile683Val)
c.2071A>G (p.Ile691Val)
n.2202A>G
c.2467A>G (p.Ile823Val)
n.2647A>G
n.2627A>G
c.2119A>G (p.Ile707Val)
n.2612A>G
20g.3228926T>GCA408087015SLC4A11c.2104A>C (p.Ile702Leu)
c.2035A>C (p.Ile679Leu)
c.1975A>C (p.Ile659Leu)
c.1990A>C (p.Ile664Leu)
c.2152A>C (p.Ile718Leu)
c.2233A>C (p.Ile745Leu)
c.*252A>C (n.*252A>C)
c.2473A>C (p.Ile825Leu)
c.2047A>C (p.Ile683Leu)
c.2071A>C (p.Ile691Leu)
n.2202A>C
c.2467A>C (p.Ile823Leu)
n.2647A>C
n.2627A>C
c.2119A>C (p.Ile707Leu)
n.2612A>C
20g.3228927C>ACA408087016SLC4A11c.2103G>T (p.Trp701Cys)
c.2034G>T (p.Trp678Cys)
c.1974G>T (p.Trp658Cys)
c.1989G>T (p.Trp663Cys)
c.2151G>T (p.Trp717Cys)
c.2232G>T (p.Trp744Cys)
c.*251G>T (n.*251G>T)
c.2472G>T (p.Trp824Cys)
c.2046G>T (p.Trp682Cys)
c.2070G>T (p.Trp690Cys)
n.2201G>T
c.2466G>T (p.Trp822Cys)
n.2646G>T
n.2626G>T
c.2118G>T (p.Trp706Cys)
n.2611G>T
20g.3228927C=CA2346475244SLC4A11c.2103G= (p.Trp701=)
c.2034G= (p.Trp678=)
c.1974G= (p.Trp658=)
c.1989G= (p.Trp663=)
c.2151G= (p.Trp717=)
c.2232G= (p.Trp744=)
c.*251G= (n.*251G=)
c.2472G= (p.Trp824=)
c.2046G= (p.Trp682=)
c.2070G= (p.Trp690=)
n.2201G=
c.2466G= (p.Trp822=)
n.2646G=
n.2626G=
c.2118G= (p.Trp706=)
n.2611G=
20g.3228927C>GCA408087017SLC4A11c.2103G>C (p.Trp701Cys)
c.2034G>C (p.Trp678Cys)
c.1974G>C (p.Trp658Cys)
c.1989G>C (p.Trp663Cys)
c.2151G>C (p.Trp717Cys)
c.2232G>C (p.Trp744Cys)
c.*251G>C (n.*251G>C)
c.2472G>C (p.Trp824Cys)
c.2046G>C (p.Trp682Cys)
c.2070G>C (p.Trp690Cys)
n.2201G>C
c.2466G>C (p.Trp822Cys)
n.2646G>C
n.2626G>C
c.2118G>C (p.Trp706Cys)
n.2611G>C
20g.3228927C>TCA408087018SLC4A11c.2103G>A (p.Trp701Ter)
c.2034G>A (p.Trp678Ter)
c.1974G>A (p.Trp658Ter)
c.1989G>A (p.Trp663Ter)
c.2151G>A (p.Trp717Ter)
c.2232G>A (p.Trp744Ter)
c.*251G>A (n.*251G>A)
c.2472G>A (p.Trp824Ter)
c.2046G>A (p.Trp682Ter)
c.2070G>A (p.Trp690Ter)
n.2201G>A
c.2466G>A (p.Trp822Ter)
n.2646G>A
n.2626G>A
c.2118G>A (p.Trp706Ter)
n.2611G>A
20g.3228928C>ACA408087019SLC4A11c.2102G>T (p.Trp701Leu)
c.2033G>T (p.Trp678Leu)
c.1973G>T (p.Trp658Leu)
c.1988G>T (p.Trp663Leu)
c.2150G>T (p.Trp717Leu)
c.2231G>T (p.Trp744Leu)
c.*250G>T (n.*250G>T)
n.695G>T
c.2471G>T (p.Trp824Leu)
c.2045G>T (p.Trp682Leu)
c.2069G>T (p.Trp690Leu)
n.2200G>T
c.2465G>T (p.Trp822Leu)
n.2645G>T
n.2625G>T
c.2117G>T (p.Trp706Leu)
n.2610G>T
20g.3228928C=CA2346475245SLC4A11c.2102G= (p.Trp701=)
c.2033G= (p.Trp678=)
c.1973G= (p.Trp658=)
c.1988G= (p.Trp663=)
c.2150G= (p.Trp717=)
c.2231G= (p.Trp744=)
c.*250G= (n.*250G=)
n.695G=
c.2471G= (p.Trp824=)
c.2045G= (p.Trp682=)
c.2069G= (p.Trp690=)
n.2200G=
c.2465G= (p.Trp822=)
n.2645G=
n.2625G=
c.2117G= (p.Trp706=)
n.2610G=
20g.3228928C>GCA408087020SLC4A11c.2102G>C (p.Trp701Ser)
c.2033G>C (p.Trp678Ser)
c.1973G>C (p.Trp658Ser)
c.1988G>C (p.Trp663Ser)
c.2150G>C (p.Trp717Ser)
c.2231G>C (p.Trp744Ser)
c.*250G>C (n.*250G>C)
n.695G>C
c.2471G>C (p.Trp824Ser)
c.2045G>C (p.Trp682Ser)
c.2069G>C (p.Trp690Ser)
n.2200G>C
c.2465G>C (p.Trp822Ser)
n.2645G>C
n.2625G>C
c.2117G>C (p.Trp706Ser)
n.2610G>C
20g.3228928C>TCA9741593SLC4A11c.2102G>A (p.Trp701Ter)
c.2033G>A (p.Trp678Ter)
c.1973G>A (p.Trp658Ter)
c.1988G>A (p.Trp663Ter)
c.2150G>A (p.Trp717Ter)
c.2231G>A (p.Trp744Ter)
c.*250G>A (n.*250G>A)
n.695G>A
c.2471G>A (p.Trp824Ter)
c.2045G>A (p.Trp682Ter)
c.2069G>A (p.Trp690Ter)
n.2200G>A
c.2465G>A (p.Trp822Ter)
n.2645G>A
n.2625G>A
c.2117G>A (p.Trp706Ter)
n.2610G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228929A>CCA408087021SLC4A11c.2101T>G (p.Trp701Gly)
c.2032T>G (p.Trp678Gly)
c.1972T>G (p.Trp658Gly)
c.1987T>G (p.Trp663Gly)
c.2149T>G (p.Trp717Gly)
c.2230T>G (p.Trp744Gly)
c.*249T>G (n.*249T>G)
n.694T>G
c.2470T>G (p.Trp824Gly)
c.2044T>G (p.Trp682Gly)
c.2068T>G (p.Trp690Gly)
n.2199T>G
c.2464T>G (p.Trp822Gly)
n.2644T>G
n.2624T>G
c.2116T>G (p.Trp706Gly)
n.2609T>G
20g.3228929A>GCA408087022SLC4A11c.2101T>C (p.Trp701Arg)
c.2032T>C (p.Trp678Arg)
c.1972T>C (p.Trp658Arg)
c.1987T>C (p.Trp663Arg)
c.2149T>C (p.Trp717Arg)
c.2230T>C (p.Trp744Arg)
c.*249T>C (n.*249T>C)
n.694T>C
c.2470T>C (p.Trp824Arg)
c.2044T>C (p.Trp682Arg)
c.2068T>C (p.Trp690Arg)
n.2199T>C
c.2464T>C (p.Trp822Arg)
n.2644T>C
n.2624T>C
c.2116T>C (p.Trp706Arg)
n.2609T>C
20g.3228929A>TCA408087023SLC4A11c.2101T>A (p.Trp701Arg)
c.2032T>A (p.Trp678Arg)
c.1972T>A (p.Trp658Arg)
c.1987T>A (p.Trp663Arg)
c.2149T>A (p.Trp717Arg)
c.2230T>A (p.Trp744Arg)
c.*249T>A (n.*249T>A)
n.694T>A
c.2470T>A (p.Trp824Arg)
c.2044T>A (p.Trp682Arg)
c.2068T>A (p.Trp690Arg)
n.2199T>A
c.2464T>A (p.Trp822Arg)
n.2644T>A
n.2624T>A
c.2116T>A (p.Trp706Arg)
n.2609T>A
20g.3228930A>CCA509558257SLC4A11c.2100T>G (p.Pro700=)
c.2031T>G (p.Pro677=)
c.1971T>G (p.Pro657=)
c.1986T>G (p.Pro662=)
c.2148T>G (p.Pro716=)
c.2229T>G (p.Pro743=)
c.*248T>G (n.*248T>G)
n.693T>G
c.2469T>G (p.Pro823=)
c.2043T>G (p.Pro681=)
c.2067T>G (p.Pro689=)
n.2198T>G
c.2463T>G (p.Pro821=)
n.2643T>G
n.2623T>G
c.2115T>G (p.Pro705=)
n.2608T>G
20g.3228930A>GCA509558258SLC4A11c.2100T>C (p.Pro700=)
c.2031T>C (p.Pro677=)
c.1971T>C (p.Pro657=)
c.1986T>C (p.Pro662=)
c.2148T>C (p.Pro716=)
c.2229T>C (p.Pro743=)
c.*248T>C (n.*248T>C)
n.693T>C
c.2469T>C (p.Pro823=)
c.2043T>C (p.Pro681=)
c.2067T>C (p.Pro689=)
n.2198T>C
c.2463T>C (p.Pro821=)
n.2643T>C
n.2623T>C
c.2115T>C (p.Pro705=)
n.2608T>C
20g.3228930A>TCA509558259SLC4A11c.2100T>A (p.Pro700=)
c.2031T>A (p.Pro677=)
c.1971T>A (p.Pro657=)
c.1986T>A (p.Pro662=)
c.2148T>A (p.Pro716=)
c.2229T>A (p.Pro743=)
c.*248T>A (n.*248T>A)
n.693T>A
c.2469T>A (p.Pro823=)
c.2043T>A (p.Pro681=)
c.2067T>A (p.Pro689=)
n.2198T>A
c.2463T>A (p.Pro821=)
n.2643T>A
n.2623T>A
c.2115T>A (p.Pro705=)
n.2608T>A
20g.3228931G>ACA408087026SLC4A11c.2099C>T (p.Pro700Leu)
c.2030C>T (p.Pro677Leu)
c.1970C>T (p.Pro657Leu)
c.1985C>T (p.Pro662Leu)
c.2147C>T (p.Pro716Leu)
c.2228C>T (p.Pro743Leu)
c.*247C>T (n.*247C>T)
n.692C>T
c.2468C>T (p.Pro823Leu)
c.2042C>T (p.Pro681Leu)
c.2066C>T (p.Pro689Leu)
n.2197C>T
c.2462C>T (p.Pro821Leu)
n.2642C>T
n.2622C>T
c.2114C>T (p.Pro705Leu)
n.2607C>T
 gnomAD v4
20g.3228931G>CCA408087024SLC4A11c.2099C>G (p.Pro700Arg)
c.2030C>G (p.Pro677Arg)
c.1970C>G (p.Pro657Arg)
c.1985C>G (p.Pro662Arg)
c.2147C>G (p.Pro716Arg)
c.2228C>G (p.Pro743Arg)
c.*247C>G (n.*247C>G)
n.692C>G
c.2468C>G (p.Pro823Arg)
c.2042C>G (p.Pro681Arg)
c.2066C>G (p.Pro689Arg)
n.2197C>G
c.2462C>G (p.Pro821Arg)
n.2642C>G
n.2622C>G
c.2114C>G (p.Pro705Arg)
n.2607C>G
20g.3228931G>TCA408087025SLC4A11c.2099C>A (p.Pro700His)
c.2030C>A (p.Pro677His)
c.1970C>A (p.Pro657His)
c.1985C>A (p.Pro662His)
c.2147C>A (p.Pro716His)
c.2228C>A (p.Pro743His)
c.*247C>A (n.*247C>A)
n.692C>A
c.2468C>A (p.Pro823His)
c.2042C>A (p.Pro681His)
c.2066C>A (p.Pro689His)
n.2197C>A
c.2462C>A (p.Pro821His)
n.2642C>A
n.2622C>A
c.2114C>A (p.Pro705His)
n.2607C>A
20g.3228932G>ACA408087027SLC4A11c.2098C>T (p.Pro700Ser)
c.2029C>T (p.Pro677Ser)
c.1969C>T (p.Pro657Ser)
c.1984C>T (p.Pro662Ser)
c.2146C>T (p.Pro716Ser)
c.2227C>T (p.Pro743Ser)
c.*246C>T (n.*246C>T)
n.691C>T
c.2467C>T (p.Pro823Ser)
c.2041C>T (p.Pro681Ser)
c.2065C>T (p.Pro689Ser)
n.2196C>T
c.2461C>T (p.Pro821Ser)
n.2641C>T
n.2621C>T
c.2113C>T (p.Pro705Ser)
n.2606C>T
 dbSNP gnomAD v2 gnomAD v4
20g.3228932G>CCA408087028SLC4A11c.2098C>G (p.Pro700Ala)
c.2029C>G (p.Pro677Ala)
c.1969C>G (p.Pro657Ala)
c.1984C>G (p.Pro662Ala)
c.2146C>G (p.Pro716Ala)
c.2227C>G (p.Pro743Ala)
c.*246C>G (n.*246C>G)
n.691C>G
c.2467C>G (p.Pro823Ala)
c.2041C>G (p.Pro681Ala)
c.2065C>G (p.Pro689Ala)
n.2196C>G
c.2461C>G (p.Pro821Ala)
n.2641C>G
n.2621C>G
c.2113C>G (p.Pro705Ala)
n.2606C>G
20g.3228932G=CA2346475246SLC4A11c.2098C= (p.Pro700=)
c.2029C= (p.Pro677=)
c.1969C= (p.Pro657=)
c.1984C= (p.Pro662=)
c.2146C= (p.Pro716=)
c.2227C= (p.Pro743=)
c.*246C= (n.*246C=)
n.691C=
c.2467C= (p.Pro823=)
c.2041C= (p.Pro681=)
c.2065C= (p.Pro689=)
n.2196C=
c.2461C= (p.Pro821=)
n.2641C=
n.2621C=
c.2113C= (p.Pro705=)
n.2606C=
20g.3228932G>TCA408087029SLC4A11c.2098C>A (p.Pro700Thr)
c.2029C>A (p.Pro677Thr)
c.1969C>A (p.Pro657Thr)
c.1984C>A (p.Pro662Thr)
c.2146C>A (p.Pro716Thr)
c.2227C>A (p.Pro743Thr)
c.*246C>A (n.*246C>A)
n.691C>A
c.2467C>A (p.Pro823Thr)
c.2041C>A (p.Pro681Thr)
c.2065C>A (p.Pro689Thr)
n.2196C>A
c.2461C>A (p.Pro821Thr)
n.2641C>A
n.2621C>A
c.2113C>A (p.Pro705Thr)
n.2606C>A
20g.3228933C>ACA509558260SLC4A11c.2097G>T (p.Leu699=)
c.2028G>T (p.Leu676=)
c.1968G>T (p.Leu656=)
c.1983G>T (p.Leu661=)
c.2145G>T (p.Leu715=)
c.2226G>T (p.Leu742=)
c.*245G>T (n.*245G>T)
n.690G>T
c.2466G>T (p.Leu822=)
c.2040G>T (p.Leu680=)
c.2064G>T (p.Leu688=)
n.2195G>T
c.2460G>T (p.Leu820=)
n.2640G>T
n.2620G>T
c.2112G>T (p.Leu704=)
n.2605G>T
20g.3228933C>GCA509558261SLC4A11c.2097G>C (p.Leu699=)
c.2028G>C (p.Leu676=)
c.1968G>C (p.Leu656=)
c.1983G>C (p.Leu661=)
c.2145G>C (p.Leu715=)
c.2226G>C (p.Leu742=)
c.*245G>C (n.*245G>C)
n.690G>C
c.2466G>C (p.Leu822=)
c.2040G>C (p.Leu680=)
c.2064G>C (p.Leu688=)
n.2195G>C
c.2460G>C (p.Leu820=)
n.2640G>C
n.2620G>C
c.2112G>C (p.Leu704=)
n.2605G>C
20g.3228933C>TCA509558262SLC4A11c.2097G>A (p.Leu699=)
c.2028G>A (p.Leu676=)
c.1968G>A (p.Leu656=)
c.1983G>A (p.Leu661=)
c.2145G>A (p.Leu715=)
c.2226G>A (p.Leu742=)
c.*245G>A (n.*245G>A)
n.690G>A
c.2466G>A (p.Leu822=)
c.2040G>A (p.Leu680=)
c.2064G>A (p.Leu688=)
n.2195G>A
c.2460G>A (p.Leu820=)
n.2640G>A
n.2620G>A
c.2112G>A (p.Leu704=)
n.2605G>A
 ClinVar
20g.3228934A=CA2346475247SLC4A11c.2096T= (p.Leu699=)
c.2027T= (p.Leu676=)
c.1967T= (p.Leu656=)
c.1982T= (p.Leu661=)
c.2144T= (p.Leu715=)
c.2225T= (p.Leu742=)
c.*244T= (n.*244T=)
n.689T=
c.2465T= (p.Leu822=)
c.2039T= (p.Leu680=)
c.2063T= (p.Leu688=)
n.2194T=
c.2459T= (p.Leu820=)
n.2639T=
n.2619T=
c.2111T= (p.Leu704=)
n.2604T=
20g.3228934A>CCA408087030SLC4A11c.2096T>G (p.Leu699Arg)
c.2027T>G (p.Leu676Arg)
c.1967T>G (p.Leu656Arg)
c.1982T>G (p.Leu661Arg)
c.2144T>G (p.Leu715Arg)
c.2225T>G (p.Leu742Arg)
c.*244T>G (n.*244T>G)
n.689T>G
c.2465T>G (p.Leu822Arg)
c.2039T>G (p.Leu680Arg)
c.2063T>G (p.Leu688Arg)
n.2194T>G
c.2459T>G (p.Leu820Arg)
n.2639T>G
n.2619T>G
c.2111T>G (p.Leu704Arg)
n.2604T>G
20g.3228934A>GCA408087031SLC4A11c.2096T>C (p.Leu699Pro)
c.2027T>C (p.Leu676Pro)
c.1967T>C (p.Leu656Pro)
c.1982T>C (p.Leu661Pro)
c.2144T>C (p.Leu715Pro)
c.2225T>C (p.Leu742Pro)
c.*244T>C (n.*244T>C)
n.689T>C
c.2465T>C (p.Leu822Pro)
c.2039T>C (p.Leu680Pro)
c.2063T>C (p.Leu688Pro)
n.2194T>C
c.2459T>C (p.Leu820Pro)
n.2639T>C
n.2619T>C
c.2111T>C (p.Leu704Pro)
n.2604T>C
 dbSNP
20g.3228934A>TCA408087032SLC4A11c.2096T>A (p.Leu699Gln)
c.2027T>A (p.Leu676Gln)
c.1967T>A (p.Leu656Gln)
c.1982T>A (p.Leu661Gln)
c.2144T>A (p.Leu715Gln)
c.2225T>A (p.Leu742Gln)
c.*244T>A (n.*244T>A)
n.689T>A
c.2465T>A (p.Leu822Gln)
c.2039T>A (p.Leu680Gln)
c.2063T>A (p.Leu688Gln)
n.2194T>A
c.2459T>A (p.Leu820Gln)
n.2639T>A
n.2619T>A
c.2111T>A (p.Leu704Gln)
n.2604T>A
20g.3228935G>ACA509558263SLC4A11c.2095C>T (p.Leu699=)
c.2026C>T (p.Leu676=)
c.1966C>T (p.Leu656=)
c.1981C>T (p.Leu661=)
c.2143C>T (p.Leu715=)
c.2224C>T (p.Leu742=)
c.*243C>T (n.*243C>T)
n.688C>T
c.2464C>T (p.Leu822=)
c.2038C>T (p.Leu680=)
c.2062C>T (p.Leu688=)
n.2193C>T
c.2458C>T (p.Leu820=)
n.2638C>T
n.2618C>T
c.2110C>T (p.Leu704=)
n.2603C>T
 ClinVar dbSNP gnomAD v4
20g.3228935G>CCA408087033SLC4A11c.2095C>G (p.Leu699Val)
c.2026C>G (p.Leu676Val)
c.1966C>G (p.Leu656Val)
c.1981C>G (p.Leu661Val)
c.2143C>G (p.Leu715Val)
c.2224C>G (p.Leu742Val)
c.*243C>G (n.*243C>G)
n.688C>G
c.2464C>G (p.Leu822Val)
c.2038C>G (p.Leu680Val)
c.2062C>G (p.Leu688Val)
n.2193C>G
c.2458C>G (p.Leu820Val)
n.2638C>G
n.2618C>G
c.2110C>G (p.Leu704Val)
n.2603C>G
 dbSNP
20g.3228935G>TCA408087034SLC4A11c.2095C>A (p.Leu699Met)
c.2026C>A (p.Leu676Met)
c.1966C>A (p.Leu656Met)
c.1981C>A (p.Leu661Met)
c.2143C>A (p.Leu715Met)
c.2224C>A (p.Leu742Met)
c.*243C>A (n.*243C>A)
n.688C>A
c.2464C>A (p.Leu822Met)
c.2038C>A (p.Leu680Met)
c.2062C>A (p.Leu688Met)
n.2193C>A
c.2458C>A (p.Leu820Met)
n.2638C>A
n.2618C>A
c.2110C>A (p.Leu704Met)
n.2603C>A
20g.3228936C>ACA509558264SLC4A11c.2094G>T (p.Gly698=)
c.2025G>T (p.Gly675=)
c.1965G>T (p.Gly655=)
c.1980G>T (p.Gly660=)
c.2142G>T (p.Gly714=)
c.2223G>T (p.Gly741=)
c.*242G>T (n.*242G>T)
n.687G>T
c.2463G>T (p.Gly821=)
c.2037G>T (p.Gly679=)
c.2061G>T (p.Gly687=)
n.2192G>T
c.2457G>T (p.Gly819=)
n.2637G>T
n.2617G>T
c.2109G>T (p.Gly703=)
n.2602G>T
20g.3228936C>GCA509558267SLC4A11c.2094G>C (p.Gly698=)
c.2025G>C (p.Gly675=)
c.1965G>C (p.Gly655=)
c.1980G>C (p.Gly660=)
c.2142G>C (p.Gly714=)
c.2223G>C (p.Gly741=)
c.*242G>C (n.*242G>C)
n.687G>C
c.2463G>C (p.Gly821=)
c.2037G>C (p.Gly679=)
c.2061G>C (p.Gly687=)
n.2192G>C
c.2457G>C (p.Gly819=)
n.2637G>C
n.2617G>C
c.2109G>C (p.Gly703=)
n.2602G>C
20g.3228936C>TCA509558266SLC4A11c.2094G>A (p.Gly698=)
c.2025G>A (p.Gly675=)
c.1965G>A (p.Gly655=)
c.1980G>A (p.Gly660=)
c.2142G>A (p.Gly714=)
c.2223G>A (p.Gly741=)
c.*242G>A (n.*242G>A)
n.687G>A
c.2463G>A (p.Gly821=)
c.2037G>A (p.Gly679=)
c.2061G>A (p.Gly687=)
n.2192G>A
c.2457G>A (p.Gly819=)
n.2637G>A
n.2617G>A
c.2109G>A (p.Gly703=)
n.2602G>A
 gnomAD v4
20g.3228937C>ACA408087035SLC4A11c.2093G>T (p.Gly698Val)
c.2024G>T (p.Gly675Val)
c.1964G>T (p.Gly655Val)
c.1979G>T (p.Gly660Val)
c.2141G>T (p.Gly714Val)
c.2222G>T (p.Gly741Val)
c.*241G>T (n.*241G>T)
n.686G>T
c.2462G>T (p.Gly821Val)
c.2036G>T (p.Gly679Val)
c.2060G>T (p.Gly687Val)
n.2191G>T
c.2456G>T (p.Gly819Val)
n.2636G>T
n.2616G>T
c.2108G>T (p.Gly703Val)
n.2601G>T
 dbSNP gnomAD v4
20g.3228937C=CA2346475249SLC4A11c.2093G= (p.Gly698=)
c.2024G= (p.Gly675=)
c.1964G= (p.Gly655=)
c.1979G= (p.Gly660=)
c.2141G= (p.Gly714=)
c.2222G= (p.Gly741=)
c.*241G= (n.*241G=)
n.686G=
c.2462G= (p.Gly821=)
c.2036G= (p.Gly679=)
c.2060G= (p.Gly687=)
n.2191G=
c.2456G= (p.Gly819=)
n.2636G=
n.2616G=
c.2108G= (p.Gly703=)
n.2601G=
20g.3228937C>GCA408087036SLC4A11c.2093G>C (p.Gly698Ala)
c.2024G>C (p.Gly675Ala)
c.1964G>C (p.Gly655Ala)
c.1979G>C (p.Gly660Ala)
c.2141G>C (p.Gly714Ala)
c.2222G>C (p.Gly741Ala)
c.*241G>C (n.*241G>C)
n.686G>C
c.2462G>C (p.Gly821Ala)
c.2036G>C (p.Gly679Ala)
c.2060G>C (p.Gly687Ala)
n.2191G>C
c.2456G>C (p.Gly819Ala)
n.2636G>C
n.2616G>C
c.2108G>C (p.Gly703Ala)
n.2601G>C
20g.3228937C>TCA408087037SLC4A11c.2093G>A (p.Gly698Glu)
c.2024G>A (p.Gly675Glu)
c.1964G>A (p.Gly655Glu)
c.1979G>A (p.Gly660Glu)
c.2141G>A (p.Gly714Glu)
c.2222G>A (p.Gly741Glu)
c.*241G>A (n.*241G>A)
n.686G>A
c.2462G>A (p.Gly821Glu)
c.2036G>A (p.Gly679Glu)
c.2060G>A (p.Gly687Glu)
n.2191G>A
c.2456G>A (p.Gly819Glu)
n.2636G>A
n.2616G>A
c.2108G>A (p.Gly703Glu)
n.2601G>A
20g.3228937_3228941delinsCCAAACA2346475248SLC4A11c.2089_2093delinsTTTGG (p.Phe697=)
c.2020_2024delinsTTTGG (p.Phe674=)
c.1960_1964delinsTTTGG (p.Phe654=)
c.1975_1979delinsTTTGG (p.Phe659=)
c.2137_2141delinsTTTGG (p.Phe713=)
c.2218_2222delinsTTTGG (p.Phe740=)
c.*237_*241delinsTTTGG (n.*237_*241delinsTTTGG)
n.682_686delinsTTTGG
c.2458_2462delinsTTTGG (p.Phe820=)
c.2032_2036delinsTTTGG (p.Phe678=)
c.2056_2060delinsTTTGG (p.Phe686=)
n.2187_2191delinsTTTGG
c.2452_2456delinsTTTGG (p.Phe818=)
n.2632_2636delinsTTTGG
n.2612_2616delinsTTTGG
c.2104_2108delinsTTTGG (p.Phe702=)
n.2597_2601delinsTTTGG
20g.3228938C>ACA408087040SLC4A11c.2092G>T (p.Gly698Trp)
c.2023G>T (p.Gly675Trp)
c.1963G>T (p.Gly655Trp)
c.1978G>T (p.Gly660Trp)
c.2140G>T (p.Gly714Trp)
c.2221G>T (p.Gly741Trp)
c.*240G>T (n.*240G>T)
n.685G>T
c.2461G>T (p.Gly821Trp)
c.2035G>T (p.Gly679Trp)
c.2059G>T (p.Gly687Trp)
n.2190G>T
c.2455G>T (p.Gly819Trp)
n.2635G>T
n.2615G>T
c.2107G>T (p.Gly703Trp)
n.2600G>T
 gnomAD v4
20g.3228938C>GCA408087039SLC4A11c.2092G>C (p.Gly698Arg)
c.2023G>C (p.Gly675Arg)
c.1963G>C (p.Gly655Arg)
c.1978G>C (p.Gly660Arg)
c.2140G>C (p.Gly714Arg)
c.2221G>C (p.Gly741Arg)
c.*240G>C (n.*240G>C)
n.685G>C
c.2461G>C (p.Gly821Arg)
c.2035G>C (p.Gly679Arg)
c.2059G>C (p.Gly687Arg)
n.2190G>C
c.2455G>C (p.Gly819Arg)
n.2635G>C
n.2615G>C
c.2107G>C (p.Gly703Arg)
n.2600G>C
20g.3228938C>TCA408087038SLC4A11c.2092G>A (p.Gly698Arg)
c.2023G>A (p.Gly675Arg)
c.1963G>A (p.Gly655Arg)
c.1978G>A (p.Gly660Arg)
c.2140G>A (p.Gly714Arg)
c.2221G>A (p.Gly741Arg)
c.*240G>A (n.*240G>A)
n.685G>A
c.2461G>A (p.Gly821Arg)
c.2035G>A (p.Gly679Arg)
c.2059G>A (p.Gly687Arg)
n.2190G>A
c.2455G>A (p.Gly819Arg)
n.2635G>A
n.2615G>A
c.2107G>A (p.Gly703Arg)
n.2600G>A
20g.3228940_3228943delCA743604099SLC4A11c.2089_2092del (p.Phe697GlyfsTer21)
c.2020_2023del (p.Phe674GlyfsTer21)
c.1960_1963del (p.Phe654GlyfsTer21)
c.1975_1978del (p.Phe659GlyfsTer21)
c.2137_2140del (p.Phe713GlyfsTer21)
c.2218_2221del (p.Phe740GlyfsTer21)
c.*237_*240del (n.*237_*240del)
n.682_685del
c.2458_2461del (p.Phe820GlyfsTer21)
c.2032_2035del (p.Phe678GlyfsTer21)
c.2056_2059del (p.Phe686GlyfsTer21)
n.2187_2190del
c.2452_2455del (p.Phe818GlyfsTer21)
n.2632_2635del
n.2612_2615del
c.2104_2107del (p.Phe702GlyfsTer21)
n.2597_2600del
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.3228939A>CCA408087041SLC4A11c.2091T>G (p.Phe697Leu)
c.2022T>G (p.Phe674Leu)
c.1962T>G (p.Phe654Leu)
c.1977T>G (p.Phe659Leu)
c.2139T>G (p.Phe713Leu)
c.2220T>G (p.Phe740Leu)
c.*239T>G (n.*239T>G)
n.684T>G
c.2460T>G (p.Phe820Leu)
c.2034T>G (p.Phe678Leu)
c.2058T>G (p.Phe686Leu)
n.2189T>G
c.2454T>G (p.Phe818Leu)
n.2634T>G
n.2614T>G
c.2106T>G (p.Phe702Leu)
n.2599T>G
20g.3228939A>GCA509558272SLC4A11c.2091T>C (p.Phe697=)
c.2022T>C (p.Phe674=)
c.1962T>C (p.Phe654=)
c.1977T>C (p.Phe659=)
c.2139T>C (p.Phe713=)
c.2220T>C (p.Phe740=)
c.*239T>C (n.*239T>C)
n.684T>C
c.2460T>C (p.Phe820=)
c.2034T>C (p.Phe678=)
c.2058T>C (p.Phe686=)
n.2189T>C
c.2454T>C (p.Phe818=)
n.2634T>C
n.2614T>C
c.2106T>C (p.Phe702=)
n.2599T>C
20g.3228939A>TCA408087042SLC4A11c.2091T>A (p.Phe697Leu)
c.2022T>A (p.Phe674Leu)
c.1962T>A (p.Phe654Leu)
c.1977T>A (p.Phe659Leu)
c.2139T>A (p.Phe713Leu)
c.2220T>A (p.Phe740Leu)
c.*239T>A (n.*239T>A)
n.684T>A
c.2460T>A (p.Phe820Leu)
c.2034T>A (p.Phe678Leu)
c.2058T>A (p.Phe686Leu)
n.2189T>A
c.2454T>A (p.Phe818Leu)
n.2634T>A
n.2614T>A
c.2106T>A (p.Phe702Leu)
n.2599T>A
20g.3228940A>CCA408087043SLC4A11c.2090T>G (p.Phe697Cys)
c.2021T>G (p.Phe674Cys)
c.1961T>G (p.Phe654Cys)
c.1976T>G (p.Phe659Cys)
c.2138T>G (p.Phe713Cys)
c.2219T>G (p.Phe740Cys)
c.*238T>G (n.*238T>G)
n.683T>G
c.2459T>G (p.Phe820Cys)
c.2033T>G (p.Phe678Cys)
c.2057T>G (p.Phe686Cys)
n.2188T>G
c.2453T>G (p.Phe818Cys)
n.2633T>G
n.2613T>G
c.2105T>G (p.Phe702Cys)
n.2598T>G
20g.3228940A>GCA408087044SLC4A11c.2090T>C (p.Phe697Ser)
c.2021T>C (p.Phe674Ser)
c.1961T>C (p.Phe654Ser)
c.1976T>C (p.Phe659Ser)
c.2138T>C (p.Phe713Ser)
c.2219T>C (p.Phe740Ser)
c.*238T>C (n.*238T>C)
n.683T>C
c.2459T>C (p.Phe820Ser)
c.2033T>C (p.Phe678Ser)
c.2057T>C (p.Phe686Ser)
n.2188T>C
c.2453T>C (p.Phe818Ser)
n.2633T>C
n.2613T>C
c.2105T>C (p.Phe702Ser)
n.2598T>C
20g.3228940A>TCA408087045SLC4A11c.2090T>A (p.Phe697Tyr)
c.2021T>A (p.Phe674Tyr)
c.1961T>A (p.Phe654Tyr)
c.1976T>A (p.Phe659Tyr)
c.2138T>A (p.Phe713Tyr)
c.2219T>A (p.Phe740Tyr)
c.*238T>A (n.*238T>A)
n.683T>A
c.2459T>A (p.Phe820Tyr)
c.2033T>A (p.Phe678Tyr)
c.2057T>A (p.Phe686Tyr)
n.2188T>A
c.2453T>A (p.Phe818Tyr)
n.2633T>A
n.2613T>A
c.2105T>A (p.Phe702Tyr)
n.2598T>A
20g.3228941A>CCA408087046SLC4A11c.2089T>G (p.Phe697Val)
c.2020T>G (p.Phe674Val)
c.1960T>G (p.Phe654Val)
c.1975T>G (p.Phe659Val)
c.2137T>G (p.Phe713Val)
c.2218T>G (p.Phe740Val)
c.*237T>G (n.*237T>G)
n.682T>G
c.2458T>G (p.Phe820Val)
c.2032T>G (p.Phe678Val)
c.2056T>G (p.Phe686Val)
n.2187T>G
c.2452T>G (p.Phe818Val)
n.2632T>G
n.2612T>G
c.2104T>G (p.Phe702Val)
n.2597T>G
20g.3228941A>GCA408087047SLC4A11c.2089T>C (p.Phe697Leu)
c.2020T>C (p.Phe674Leu)
c.1960T>C (p.Phe654Leu)
c.1975T>C (p.Phe659Leu)
c.2137T>C (p.Phe713Leu)
c.2218T>C (p.Phe740Leu)
c.*237T>C (n.*237T>C)
n.682T>C
c.2458T>C (p.Phe820Leu)
c.2032T>C (p.Phe678Leu)
c.2056T>C (p.Phe686Leu)
n.2187T>C
c.2452T>C (p.Phe818Leu)
n.2632T>C
n.2612T>C
c.2104T>C (p.Phe702Leu)
n.2597T>C
20g.3228941A>TCA408087048SLC4A11c.2089T>A (p.Phe697Ile)
c.2020T>A (p.Phe674Ile)
c.1960T>A (p.Phe654Ile)
c.1975T>A (p.Phe659Ile)
c.2137T>A (p.Phe713Ile)
c.2218T>A (p.Phe740Ile)
c.*237T>A (n.*237T>A)
n.682T>A
c.2458T>A (p.Phe820Ile)
c.2032T>A (p.Phe678Ile)
c.2056T>A (p.Phe686Ile)
n.2187T>A
c.2452T>A (p.Phe818Ile)
n.2632T>A
n.2612T>A
c.2104T>A (p.Phe702Ile)
n.2597T>A
20g.3228942C>ACA509558274SLC4A11c.2088G>T (p.Leu696=)
c.2019G>T (p.Leu673=)
c.1959G>T (p.Leu653=)
c.1974G>T (p.Leu658=)
c.2136G>T (p.Leu712=)
c.2217G>T (p.Leu739=)
c.*236G>T (n.*236G>T)
n.681G>T
c.2457G>T (p.Leu819=)
c.2031G>T (p.Leu677=)
c.2055G>T (p.Leu685=)
n.2186G>T
c.2451G>T (p.Leu817=)
n.2631G>T
n.2611G>T
c.2103G>T (p.Leu701=)
n.2596G>T
20g.3228942C>GCA509558278SLC4A11c.2088G>C (p.Leu696=)
c.2019G>C (p.Leu673=)
c.1959G>C (p.Leu653=)
c.1974G>C (p.Leu658=)
c.2136G>C (p.Leu712=)
c.2217G>C (p.Leu739=)
c.*236G>C (n.*236G>C)
n.681G>C
c.2457G>C (p.Leu819=)
c.2031G>C (p.Leu677=)
c.2055G>C (p.Leu685=)
n.2186G>C
c.2451G>C (p.Leu817=)
n.2631G>C
n.2611G>C
c.2103G>C (p.Leu701=)
n.2596G>C
20g.3228942C>TCA509558279SLC4A11c.2088G>A (p.Leu696=)
c.2019G>A (p.Leu673=)
c.1959G>A (p.Leu653=)
c.1974G>A (p.Leu658=)
c.2136G>A (p.Leu712=)
c.2217G>A (p.Leu739=)
c.*236G>A (n.*236G>A)
n.681G>A
c.2457G>A (p.Leu819=)
c.2031G>A (p.Leu677=)
c.2055G>A (p.Leu685=)
n.2186G>A
c.2451G>A (p.Leu817=)
n.2631G>A
n.2611G>A
c.2103G>A (p.Leu701=)
n.2596G>A
20g.3228943A>CCA408087049SLC4A11c.2087T>G (p.Leu696Arg)
c.2018T>G (p.Leu673Arg)
c.1958T>G (p.Leu653Arg)
c.1973T>G (p.Leu658Arg)
c.2135T>G (p.Leu712Arg)
c.2216T>G (p.Leu739Arg)
c.*235T>G (n.*235T>G)
n.680T>G
c.2456T>G (p.Leu819Arg)
c.2030T>G (p.Leu677Arg)
c.2054T>G (p.Leu685Arg)
n.2185T>G
c.2450T>G (p.Leu817Arg)
n.2630T>G
n.2610T>G
c.2102T>G (p.Leu701Arg)
n.2595T>G
20g.3228943A>GCA408087050SLC4A11c.2087T>C (p.Leu696Pro)
c.2018T>C (p.Leu673Pro)
c.1958T>C (p.Leu653Pro)
c.1973T>C (p.Leu658Pro)
c.2135T>C (p.Leu712Pro)
c.2216T>C (p.Leu739Pro)
c.*235T>C (n.*235T>C)
n.680T>C
c.2456T>C (p.Leu819Pro)
c.2030T>C (p.Leu677Pro)
c.2054T>C (p.Leu685Pro)
n.2185T>C
c.2450T>C (p.Leu817Pro)
n.2630T>C
n.2610T>C
c.2102T>C (p.Leu701Pro)
n.2595T>C
20g.3228943A>TCA408087051SLC4A11c.2087T>A (p.Leu696Gln)
c.2018T>A (p.Leu673Gln)
c.1958T>A (p.Leu653Gln)
c.1973T>A (p.Leu658Gln)
c.2135T>A (p.Leu712Gln)
c.2216T>A (p.Leu739Gln)
c.*235T>A (n.*235T>A)
n.680T>A
c.2456T>A (p.Leu819Gln)
c.2030T>A (p.Leu677Gln)
c.2054T>A (p.Leu685Gln)
n.2185T>A
c.2450T>A (p.Leu817Gln)
n.2630T>A
n.2610T>A
c.2102T>A (p.Leu701Gln)
n.2595T>A
20g.3228944G>ACA509558283SLC4A11c.2086C>T (p.Leu696=)
c.2017C>T (p.Leu673=)
c.1957C>T (p.Leu653=)
c.1972C>T (p.Leu658=)
c.2134C>T (p.Leu712=)
c.2215C>T (p.Leu739=)
c.*234C>T (n.*234C>T)
n.679C>T
c.2455C>T (p.Leu819=)
c.2029C>T (p.Leu677=)
c.2053C>T (p.Leu685=)
n.2184C>T
c.2449C>T (p.Leu817=)
n.2629C>T
n.2609C>T
c.2101C>T (p.Leu701=)
n.2594C>T
20g.3228944G>CCA408087052SLC4A11c.2086C>G (p.Leu696Val)
c.2017C>G (p.Leu673Val)
c.1957C>G (p.Leu653Val)
c.1972C>G (p.Leu658Val)
c.2134C>G (p.Leu712Val)
c.2215C>G (p.Leu739Val)
c.*234C>G (n.*234C>G)
n.679C>G
c.2455C>G (p.Leu819Val)
c.2029C>G (p.Leu677Val)
c.2053C>G (p.Leu685Val)
n.2184C>G
c.2449C>G (p.Leu817Val)
n.2629C>G
n.2609C>G
c.2101C>G (p.Leu701Val)
n.2594C>G
20g.3228944G>TCA408087053SLC4A11c.2086C>A (p.Leu696Met)
c.2017C>A (p.Leu673Met)
c.1957C>A (p.Leu653Met)
c.1972C>A (p.Leu658Met)
c.2134C>A (p.Leu712Met)
c.2215C>A (p.Leu739Met)
c.*234C>A (n.*234C>A)
n.679C>A
c.2455C>A (p.Leu819Met)
c.2029C>A (p.Leu677Met)
c.2053C>A (p.Leu685Met)
n.2184C>A
c.2449C>A (p.Leu817Met)
n.2629C>A
n.2609C>A
c.2101C>A (p.Leu701Met)
n.2594C>A
20g.3228945A>CCA509558287SLC4A11c.2085T>G (p.Ser695=)
c.2016T>G (p.Ser672=)
c.1956T>G (p.Ser652=)
c.1971T>G (p.Ser657=)
c.2133T>G (p.Ser711=)
c.2214T>G (p.Ser738=)
c.*233T>G (n.*233T>G)
n.678T>G
c.2454T>G (p.Ser818=)
c.2028T>G (p.Ser676=)
c.2052T>G (p.Ser684=)
n.2183T>G
c.2448T>G (p.Ser816=)
n.2628T>G
n.2608T>G
c.2100T>G (p.Ser700=)
n.2593T>G
20g.3228945A>GCA509558286SLC4A11c.2085T>C (p.Ser695=)
c.2016T>C (p.Ser672=)
c.1956T>C (p.Ser652=)
c.1971T>C (p.Ser657=)
c.2133T>C (p.Ser711=)
c.2214T>C (p.Ser738=)
c.*233T>C (n.*233T>C)
n.678T>C
c.2454T>C (p.Ser818=)
c.2028T>C (p.Ser676=)
c.2052T>C (p.Ser684=)
n.2183T>C
c.2448T>C (p.Ser816=)
n.2628T>C
n.2608T>C
c.2100T>C (p.Ser700=)
n.2593T>C
 dbSNP
20g.3228945A>TCA509558285SLC4A11c.2085T>A (p.Ser695=)
c.2016T>A (p.Ser672=)
c.1956T>A (p.Ser652=)
c.1971T>A (p.Ser657=)
c.2133T>A (p.Ser711=)
c.2214T>A (p.Ser738=)
c.*233T>A (n.*233T>A)
n.678T>A
c.2454T>A (p.Ser818=)
c.2028T>A (p.Ser676=)
c.2052T>A (p.Ser684=)
n.2183T>A
c.2448T>A (p.Ser816=)
n.2628T>A
n.2608T>A
c.2100T>A (p.Ser700=)
n.2593T>A
20g.3228946G>ACA408087056SLC4A11c.2084C>T (p.Ser695Phe)
c.2015C>T (p.Ser672Phe)
c.1955C>T (p.Ser652Phe)
c.1970C>T (p.Ser657Phe)
c.2132C>T (p.Ser711Phe)
c.2213C>T (p.Ser738Phe)
c.*232C>T (n.*232C>T)
n.677C>T
c.2453C>T (p.Ser818Phe)
c.2027C>T (p.Ser676Phe)
c.2051C>T (p.Ser684Phe)
n.2182C>T
c.2447C>T (p.Ser816Phe)
n.2627C>T
n.2607C>T
c.2099C>T (p.Ser700Phe)
n.2592C>T
 dbSNP
20g.3228946G>CCA408087054SLC4A11c.2084C>G (p.Ser695Cys)
c.2015C>G (p.Ser672Cys)
c.1955C>G (p.Ser652Cys)
c.1970C>G (p.Ser657Cys)
c.2132C>G (p.Ser711Cys)
c.2213C>G (p.Ser738Cys)
c.*232C>G (n.*232C>G)
n.677C>G
c.2453C>G (p.Ser818Cys)
c.2027C>G (p.Ser676Cys)
c.2051C>G (p.Ser684Cys)
n.2182C>G
c.2447C>G (p.Ser816Cys)
n.2627C>G
n.2607C>G
c.2099C>G (p.Ser700Cys)
n.2592C>G
20g.3228946G=CA2346475250SLC4A11c.2084C= (p.Ser695=)
c.2015C= (p.Ser672=)
c.1955C= (p.Ser652=)
c.1970C= (p.Ser657=)
c.2132C= (p.Ser711=)
c.2213C= (p.Ser738=)
c.*232C= (n.*232C=)
n.677C=
c.2453C= (p.Ser818=)
c.2027C= (p.Ser676=)
c.2051C= (p.Ser684=)
n.2182C=
c.2447C= (p.Ser816=)
n.2627C=
n.2607C=
c.2099C= (p.Ser700=)
n.2592C=
20g.3228946G>TCA408087055SLC4A11c.2084C>A (p.Ser695Tyr)
c.2015C>A (p.Ser672Tyr)
c.1955C>A (p.Ser652Tyr)
c.1970C>A (p.Ser657Tyr)
c.2132C>A (p.Ser711Tyr)
c.2213C>A (p.Ser738Tyr)
c.*232C>A (n.*232C>A)
n.677C>A
c.2453C>A (p.Ser818Tyr)
c.2027C>A (p.Ser676Tyr)
c.2051C>A (p.Ser684Tyr)
n.2182C>A
c.2447C>A (p.Ser816Tyr)
n.2627C>A
n.2607C>A
c.2099C>A (p.Ser700Tyr)
n.2592C>A
20g.3228947A>CCA408087057SLC4A11c.2083T>G (p.Ser695Ala)
c.2014T>G (p.Ser672Ala)
c.1954T>G (p.Ser652Ala)
c.1969T>G (p.Ser657Ala)
c.2131T>G (p.Ser711Ala)
c.2212T>G (p.Ser738Ala)
c.*231T>G (n.*231T>G)
n.676T>G
c.2452T>G (p.Ser818Ala)
c.2026T>G (p.Ser676Ala)
c.2050T>G (p.Ser684Ala)
n.2181T>G
c.2446T>G (p.Ser816Ala)
n.2626T>G
n.2606T>G
c.2098T>G (p.Ser700Ala)
n.2591T>G
20g.3228947A>GCA408087058SLC4A11c.2083T>C (p.Ser695Pro)
c.2014T>C (p.Ser672Pro)
c.1954T>C (p.Ser652Pro)
c.1969T>C (p.Ser657Pro)
c.2131T>C (p.Ser711Pro)
c.2212T>C (p.Ser738Pro)
c.*231T>C (n.*231T>C)
n.676T>C
c.2452T>C (p.Ser818Pro)
c.2026T>C (p.Ser676Pro)
c.2050T>C (p.Ser684Pro)
n.2181T>C
c.2446T>C (p.Ser816Pro)
n.2626T>C
n.2606T>C
c.2098T>C (p.Ser700Pro)
n.2591T>C
20g.3228947A>TCA408087059SLC4A11c.2083T>A (p.Ser695Thr)
c.2014T>A (p.Ser672Thr)
c.1954T>A (p.Ser652Thr)
c.1969T>A (p.Ser657Thr)
c.2131T>A (p.Ser711Thr)
c.2212T>A (p.Ser738Thr)
c.*231T>A (n.*231T>A)
n.676T>A
c.2452T>A (p.Ser818Thr)
c.2026T>A (p.Ser676Thr)
c.2050T>A (p.Ser684Thr)
n.2181T>A
c.2446T>A (p.Ser816Thr)
n.2626T>A
n.2606T>A
c.2098T>A (p.Ser700Thr)
n.2591T>A
 gnomAD v4
20g.3228948C>ACA509558291SLC4A11c.2082G>T (p.Leu694=)
c.2013G>T (p.Leu671=)
c.1953G>T (p.Leu651=)
c.1968G>T (p.Leu656=)
c.2130G>T (p.Leu710=)
c.2211G>T (p.Leu737=)
c.*230G>T (n.*230G>T)
n.675G>T
c.2451G>T (p.Leu817=)
c.2025G>T (p.Leu675=)
c.2049G>T (p.Leu683=)
n.2180G>T
c.2445G>T (p.Leu815=)
n.2625G>T
n.2605G>T
c.2097G>T (p.Leu699=)
n.2590G>T
20g.3228948C>GCA509558292SLC4A11c.2082G>C (p.Leu694=)
c.2013G>C (p.Leu671=)
c.1953G>C (p.Leu651=)
c.1968G>C (p.Leu656=)
c.2130G>C (p.Leu710=)
c.2211G>C (p.Leu737=)
c.*230G>C (n.*230G>C)
n.675G>C
c.2451G>C (p.Leu817=)
c.2025G>C (p.Leu675=)
c.2049G>C (p.Leu683=)
n.2180G>C
c.2445G>C (p.Leu815=)
n.2625G>C
n.2605G>C
c.2097G>C (p.Leu699=)
n.2590G>C
20g.3228948C>TCA509558293SLC4A11c.2082G>A (p.Leu694=)
c.2013G>A (p.Leu671=)
c.1953G>A (p.Leu651=)
c.1968G>A (p.Leu656=)
c.2130G>A (p.Leu710=)
c.2211G>A (p.Leu737=)
c.*230G>A (n.*230G>A)
n.675G>A
c.2451G>A (p.Leu817=)
c.2025G>A (p.Leu675=)
c.2049G>A (p.Leu683=)
n.2180G>A
c.2445G>A (p.Leu815=)
n.2625G>A
n.2605G>A
c.2097G>A (p.Leu699=)
n.2590G>A
20g.3228949A>CCA408087060SLC4A11c.2081T>G (p.Leu694Arg)
c.2012T>G (p.Leu671Arg)
c.1952T>G (p.Leu651Arg)
c.1967T>G (p.Leu656Arg)
c.2129T>G (p.Leu710Arg)
c.2210T>G (p.Leu737Arg)
c.*229T>G (n.*229T>G)
n.674T>G
c.2450T>G (p.Leu817Arg)
c.2024T>G (p.Leu675Arg)
c.2048T>G (p.Leu683Arg)
n.2179T>G
c.2444T>G (p.Leu815Arg)
n.2624T>G
n.2604T>G
c.2096T>G (p.Leu699Arg)
n.2589T>G
20g.3228949A>GCA408087061SLC4A11c.2081T>C (p.Leu694Pro)
c.2012T>C (p.Leu671Pro)
c.1952T>C (p.Leu651Pro)
c.1967T>C (p.Leu656Pro)
c.2129T>C (p.Leu710Pro)
c.2210T>C (p.Leu737Pro)
c.*229T>C (n.*229T>C)
n.674T>C
c.2450T>C (p.Leu817Pro)
c.2024T>C (p.Leu675Pro)
c.2048T>C (p.Leu683Pro)
n.2179T>C
c.2444T>C (p.Leu815Pro)
n.2624T>C
n.2604T>C
c.2096T>C (p.Leu699Pro)
n.2589T>C
20g.3228949A>TCA408087062SLC4A11c.2081T>A (p.Leu694Gln)
c.2012T>A (p.Leu671Gln)
c.1952T>A (p.Leu651Gln)
c.1967T>A (p.Leu656Gln)
c.2129T>A (p.Leu710Gln)
c.2210T>A (p.Leu737Gln)
c.*229T>A (n.*229T>A)
n.674T>A
c.2450T>A (p.Leu817Gln)
c.2024T>A (p.Leu675Gln)
c.2048T>A (p.Leu683Gln)
n.2179T>A
c.2444T>A (p.Leu815Gln)
n.2624T>A
n.2604T>A
c.2096T>A (p.Leu699Gln)
n.2589T>A
20g.3228950G>ACA509558294SLC4A11c.2080C>T (p.Leu694=)
c.2011C>T (p.Leu671=)
c.1951C>T (p.Leu651=)
c.1966C>T (p.Leu656=)
c.2128C>T (p.Leu710=)
c.2209C>T (p.Leu737=)
c.*228C>T (n.*228C>T)
n.673C>T
c.2449C>T (p.Leu817=)
c.2023C>T (p.Leu675=)
c.2047C>T (p.Leu683=)
n.2178C>T
c.2443C>T (p.Leu815=)
n.2623C>T
n.2603C>T
c.2095C>T (p.Leu699=)
n.2588C>T
20g.3228950G>CCA408087063SLC4A11c.2080C>G (p.Leu694Val)
c.2011C>G (p.Leu671Val)
c.1951C>G (p.Leu651Val)
c.1966C>G (p.Leu656Val)
c.2128C>G (p.Leu710Val)
c.2209C>G (p.Leu737Val)
c.*228C>G (n.*228C>G)
n.673C>G
c.2449C>G (p.Leu817Val)
c.2023C>G (p.Leu675Val)
c.2047C>G (p.Leu683Val)
n.2178C>G
c.2443C>G (p.Leu815Val)
n.2623C>G
n.2603C>G
c.2095C>G (p.Leu699Val)
n.2588C>G
20g.3228950G>TCA408087064SLC4A11c.2080C>A (p.Leu694Met)
c.2011C>A (p.Leu671Met)
c.1951C>A (p.Leu651Met)
c.1966C>A (p.Leu656Met)
c.2128C>A (p.Leu710Met)
c.2209C>A (p.Leu737Met)
c.*228C>A (n.*228C>A)
n.673C>A
c.2449C>A (p.Leu817Met)
c.2023C>A (p.Leu675Met)
c.2047C>A (p.Leu683Met)
n.2178C>A
c.2443C>A (p.Leu815Met)
n.2623C>A
n.2603C>A
c.2095C>A (p.Leu699Met)
n.2588C>A
20g.3228951C>ACA509558295SLC4A11c.2079G>T (p.Gly693=)
c.2010G>T (p.Gly670=)
c.1950G>T (p.Gly650=)
c.1965G>T (p.Gly655=)
c.2127G>T (p.Gly709=)
c.2208G>T (p.Gly736=)
c.*227G>T (n.*227G>T)
n.672G>T
c.2448G>T (p.Gly816=)
c.2022G>T (p.Gly674=)
c.2046G>T (p.Gly682=)
n.2177G>T
c.2442G>T (p.Gly814=)
n.2622G>T
n.2602G>T
c.2094G>T (p.Gly698=)
n.2587G>T
20g.3228951C=CA2346475251SLC4A11c.2079G= (p.Gly693=)
c.2010G= (p.Gly670=)
c.1950G= (p.Gly650=)
c.1965G= (p.Gly655=)
c.2127G= (p.Gly709=)
c.2208G= (p.Gly736=)
c.*227G= (n.*227G=)
n.672G=
c.2448G= (p.Gly816=)
c.2022G= (p.Gly674=)
c.2046G= (p.Gly682=)
n.2177G=
c.2442G= (p.Gly814=)
n.2622G=
n.2602G=
c.2094G= (p.Gly698=)
n.2587G=
20g.3228951C>GCA509558296SLC4A11c.2079G>C (p.Gly693=)
c.2010G>C (p.Gly670=)
c.1950G>C (p.Gly650=)
c.1965G>C (p.Gly655=)
c.2127G>C (p.Gly709=)
c.2208G>C (p.Gly736=)
c.*227G>C (n.*227G>C)
n.672G>C
c.2448G>C (p.Gly816=)
c.2022G>C (p.Gly674=)
c.2046G>C (p.Gly682=)
n.2177G>C
c.2442G>C (p.Gly814=)
n.2622G>C
n.2602G>C
c.2094G>C (p.Gly698=)
n.2587G>C
 ClinVar
20g.3228951C>TCA509558297SLC4A11c.2079G>A (p.Gly693=)
c.2010G>A (p.Gly670=)
c.1950G>A (p.Gly650=)
c.1965G>A (p.Gly655=)
c.2127G>A (p.Gly709=)
c.2208G>A (p.Gly736=)
c.*227G>A (n.*227G>A)
n.672G>A
c.2448G>A (p.Gly816=)
c.2022G>A (p.Gly674=)
c.2046G>A (p.Gly682=)
n.2177G>A
c.2442G>A (p.Gly814=)
n.2622G>A
n.2602G>A
c.2094G>A (p.Gly698=)
n.2587G>A
 ClinVar dbSNP
20g.3228953delCA2695229232SLC4A11c.2079del (p.Leu694CysfsTer25)
c.2010del (p.Leu671CysfsTer25)
c.1950del (p.Leu651CysfsTer25)
c.1965del (p.Leu656CysfsTer25)
c.2127del (p.Leu710CysfsTer25)
c.2208del (p.Leu737CysfsTer25)
c.*227del (n.*227del)
n.672del
c.2448del (p.Leu817CysfsTer25)
c.2022del (p.Leu675CysfsTer25)
c.2046del (p.Leu683CysfsTer25)
n.2177del
c.2442del (p.Leu815CysfsTer25)
n.2622del
n.2602del
c.2094del (p.Leu699CysfsTer25)
n.2587del
20g.3228952C>ACA408087065SLC4A11c.2078G>T (p.Gly693Val)
c.2009G>T (p.Gly670Val)
c.1949G>T (p.Gly650Val)
c.1964G>T (p.Gly655Val)
c.2126G>T (p.Gly709Val)
c.2207G>T (p.Gly736Val)
c.*226G>T (n.*226G>T)
n.671G>T
c.2447G>T (p.Gly816Val)
c.2021G>T (p.Gly674Val)
c.2045G>T (p.Gly682Val)
n.2176G>T
c.2441G>T (p.Gly814Val)
n.2621G>T
n.2601G>T
c.2093G>T (p.Gly698Val)
n.2586G>T
20g.3228952C=CA2346475252SLC4A11c.2078G= (p.Gly693=)
c.2009G= (p.Gly670=)
c.1949G= (p.Gly650=)
c.1964G= (p.Gly655=)
c.2126G= (p.Gly709=)
c.2207G= (p.Gly736=)
c.*226G= (n.*226G=)
n.671G=
c.2447G= (p.Gly816=)
c.2021G= (p.Gly674=)
c.2045G= (p.Gly682=)
n.2176G=
c.2441G= (p.Gly814=)
n.2621G=
n.2601G=
c.2093G= (p.Gly698=)
n.2586G=
20g.3228952C>GCA408087066SLC4A11c.2078G>C (p.Gly693Ala)
c.2009G>C (p.Gly670Ala)
c.1949G>C (p.Gly650Ala)
c.1964G>C (p.Gly655Ala)
c.2126G>C (p.Gly709Ala)
c.2207G>C (p.Gly736Ala)
c.*226G>C (n.*226G>C)
n.671G>C
c.2447G>C (p.Gly816Ala)
c.2021G>C (p.Gly674Ala)
c.2045G>C (p.Gly682Ala)
n.2176G>C
c.2441G>C (p.Gly814Ala)
n.2621G>C
n.2601G>C
c.2093G>C (p.Gly698Ala)
n.2586G>C
20g.3228952C>TCA114924SLC4A11c.2078G>A (p.Gly693Glu)
c.2009G>A (p.Gly670Glu)
c.1949G>A (p.Gly650Glu)
c.1964G>A (p.Gly655Glu)
c.2126G>A (p.Gly709Glu)
c.2207G>A (p.Gly736Glu)
c.*226G>A (n.*226G>A)
n.671G>A
c.2447G>A (p.Gly816Glu)
c.2021G>A (p.Gly674Glu)
c.2045G>A (p.Gly682Glu)
n.2176G>A
c.2441G>A (p.Gly814Glu)
n.2621G>A
n.2601G>A
c.2093G>A (p.Gly698Glu)
n.2586G>A
 ClinVar dbSNP
20g.3228953C>ACA408087069SLC4A11c.2077G>T (p.Gly693Trp)
c.2008G>T (p.Gly670Trp)
c.1948G>T (p.Gly650Trp)
c.1963G>T (p.Gly655Trp)
c.2125G>T (p.Gly709Trp)
c.2206G>T (p.Gly736Trp)
c.*225G>T (n.*225G>T)
n.670G>T
c.2446G>T (p.Gly816Trp)
c.2020G>T (p.Gly674Trp)
c.2044G>T (p.Gly682Trp)
n.2175G>T
c.2440G>T (p.Gly814Trp)
n.2620G>T
n.2600G>T
c.2092G>T (p.Gly698Trp)
n.2585G>T
20g.3228953C>GCA408087068SLC4A11c.2077G>C (p.Gly693Arg)
c.2008G>C (p.Gly670Arg)
c.1948G>C (p.Gly650Arg)
c.1963G>C (p.Gly655Arg)
c.2125G>C (p.Gly709Arg)
c.2206G>C (p.Gly736Arg)
c.*225G>C (n.*225G>C)
n.670G>C
c.2446G>C (p.Gly816Arg)
c.2020G>C (p.Gly674Arg)
c.2044G>C (p.Gly682Arg)
n.2175G>C
c.2440G>C (p.Gly814Arg)
n.2620G>C
n.2600G>C
c.2092G>C (p.Gly698Arg)
n.2585G>C
20g.3228953C>TCA408087067SLC4A11c.2077G>A (p.Gly693Arg)
c.2008G>A (p.Gly670Arg)
c.1948G>A (p.Gly650Arg)
c.1963G>A (p.Gly655Arg)
c.2125G>A (p.Gly709Arg)
c.2206G>A (p.Gly736Arg)
c.*225G>A (n.*225G>A)
n.670G>A
c.2446G>A (p.Gly816Arg)
c.2020G>A (p.Gly674Arg)
c.2044G>A (p.Gly682Arg)
n.2175G>A
c.2440G>A (p.Gly814Arg)
n.2620G>A
n.2600G>A
c.2092G>A (p.Gly698Arg)
n.2585G>A
20g.3228954T>ACA509558299SLC4A11c.2076A>T (p.Thr692=)
c.2007A>T (p.Thr669=)
c.1947A>T (p.Thr649=)
c.1962A>T (p.Thr654=)
c.2124A>T (p.Thr708=)
c.2205A>T (p.Thr735=)
c.*224A>T (n.*224A>T)
n.669A>T
c.2445A>T (p.Thr815=)
c.2019A>T (p.Thr673=)
c.2043A>T (p.Thr681=)
n.2174A>T
c.2439A>T (p.Thr813=)
n.2619A>T
n.2599A>T
c.2091A>T (p.Thr697=)
n.2584A>T
20g.3228954T>CCA509558300SLC4A11c.2076A>G (p.Thr692=)
c.2007A>G (p.Thr669=)
c.1947A>G (p.Thr649=)
c.1962A>G (p.Thr654=)
c.2124A>G (p.Thr708=)
c.2205A>G (p.Thr735=)
c.*224A>G (n.*224A>G)
n.669A>G
c.2445A>G (p.Thr815=)
c.2019A>G (p.Thr673=)
c.2043A>G (p.Thr681=)
n.2174A>G
c.2439A>G (p.Thr813=)
n.2619A>G
n.2599A>G
c.2091A>G (p.Thr697=)
n.2584A>G
20g.3228954T>GCA509558301SLC4A11c.2076A>C (p.Thr692=)
c.2007A>C (p.Thr669=)
c.1947A>C (p.Thr649=)
c.1962A>C (p.Thr654=)
c.2124A>C (p.Thr708=)
c.2205A>C (p.Thr735=)
c.*224A>C (n.*224A>C)
n.669A>C
c.2445A>C (p.Thr815=)
c.2019A>C (p.Thr673=)
c.2043A>C (p.Thr681=)
n.2174A>C
c.2439A>C (p.Thr813=)
n.2619A>C
n.2599A>C
c.2091A>C (p.Thr697=)
n.2584A>C
20g.3228955G>ACA408087070SLC4A11c.2075C>T (p.Thr692Ile)
c.2006C>T (p.Thr669Ile)
c.1946C>T (p.Thr649Ile)
c.1961C>T (p.Thr654Ile)
c.2123C>T (p.Thr708Ile)
c.2204C>T (p.Thr735Ile)
c.*223C>T (n.*223C>T)
n.668C>T
c.2444C>T (p.Thr815Ile)
c.2018C>T (p.Thr673Ile)
c.2042C>T (p.Thr681Ile)
n.2173C>T
c.2438C>T (p.Thr813Ile)
n.2618C>T
n.2598C>T
c.2090C>T (p.Thr697Ile)
n.2583C>T
20g.3228955G>CCA408087072SLC4A11c.2075C>G (p.Thr692Arg)
c.2006C>G (p.Thr669Arg)
c.1946C>G (p.Thr649Arg)
c.1961C>G (p.Thr654Arg)
c.2123C>G (p.Thr708Arg)
c.2204C>G (p.Thr735Arg)
c.*223C>G (n.*223C>G)
n.668C>G
c.2444C>G (p.Thr815Arg)
c.2018C>G (p.Thr673Arg)
c.2042C>G (p.Thr681Arg)
n.2173C>G
c.2438C>G (p.Thr813Arg)
n.2618C>G
n.2598C>G
c.2090C>G (p.Thr697Arg)
n.2583C>G
20g.3228955G>TCA408087071SLC4A11c.2075C>A (p.Thr692Lys)
c.2006C>A (p.Thr669Lys)
c.1946C>A (p.Thr649Lys)
c.1961C>A (p.Thr654Lys)
c.2123C>A (p.Thr708Lys)
c.2204C>A (p.Thr735Lys)
c.*223C>A (n.*223C>A)
n.668C>A
c.2444C>A (p.Thr815Lys)
c.2018C>A (p.Thr673Lys)
c.2042C>A (p.Thr681Lys)
n.2173C>A
c.2438C>A (p.Thr813Lys)
n.2618C>A
n.2598C>A
c.2090C>A (p.Thr697Lys)
n.2583C>A
20g.3228956T>ACA408087073SLC4A11c.2074A>T (p.Thr692Ser)
c.2005A>T (p.Thr669Ser)
c.1945A>T (p.Thr649Ser)
c.1960A>T (p.Thr654Ser)
c.2122A>T (p.Thr708Ser)
c.2203A>T (p.Thr735Ser)
c.*222A>T (n.*222A>T)
n.667A>T
c.2443A>T (p.Thr815Ser)
c.2017A>T (p.Thr673Ser)
c.2041A>T (p.Thr681Ser)
n.2172A>T
c.2437A>T (p.Thr813Ser)
n.2617A>T
n.2597A>T
c.2089A>T (p.Thr697Ser)
n.2582A>T
20g.3228956T>CCA408087074SLC4A11c.2074A>G (p.Thr692Ala)
c.2005A>G (p.Thr669Ala)
c.1945A>G (p.Thr649Ala)
c.1960A>G (p.Thr654Ala)
c.2122A>G (p.Thr708Ala)
c.2203A>G (p.Thr735Ala)
c.*222A>G (n.*222A>G)
n.667A>G
c.2443A>G (p.Thr815Ala)
c.2017A>G (p.Thr673Ala)
c.2041A>G (p.Thr681Ala)
n.2172A>G
c.2437A>G (p.Thr813Ala)
n.2617A>G
n.2597A>G
c.2089A>G (p.Thr697Ala)
n.2582A>G
 dbSNP gnomAD v3 gnomAD v4
20g.3228956T>GCA408087075SLC4A11c.2074A>C (p.Thr692Pro)
c.2005A>C (p.Thr669Pro)
c.1945A>C (p.Thr649Pro)
c.1960A>C (p.Thr654Pro)
c.2122A>C (p.Thr708Pro)
c.2203A>C (p.Thr735Pro)
c.*222A>C (n.*222A>C)
n.667A>C
c.2443A>C (p.Thr815Pro)
c.2017A>C (p.Thr673Pro)
c.2041A>C (p.Thr681Pro)
n.2172A>C
c.2437A>C (p.Thr813Pro)
n.2617A>C
n.2597A>C
c.2089A>C (p.Thr697Pro)
n.2582A>C
20g.3228956T=CA2346475253SLC4A11c.2074A= (p.Thr692=)
c.2005A= (p.Thr669=)
c.1945A= (p.Thr649=)
c.1960A= (p.Thr654=)
c.2122A= (p.Thr708=)
c.2203A= (p.Thr735=)
c.*222A= (n.*222A=)
n.667A=
c.2443A= (p.Thr815=)
c.2017A= (p.Thr673=)
c.2041A= (p.Thr681=)
n.2172A=
c.2437A= (p.Thr813=)
n.2617A=
n.2597A=
c.2089A= (p.Thr697=)
n.2582A=
20g.3228957G>ACA9741594SLC4A11c.2073C>T (p.Asn691=)
c.2004C>T (p.Asn668=)
c.1944C>T (p.Asn648=)
c.1959C>T (p.Asn653=)
c.2121C>T (p.Asn707=)
c.2202C>T (p.Asn734=)
c.*221C>T (n.*221C>T)
n.666C>T
c.2442C>T (p.Asn814=)
c.2016C>T (p.Asn672=)
c.2040C>T (p.Asn680=)
n.2171C>T
c.2436C>T (p.Asn812=)
n.2616C>T
n.2596C>T
c.2088C>T (p.Asn696=)
n.2581C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228957G>CCA408087076SLC4A11c.2073C>G (p.Asn691Lys)
c.2004C>G (p.Asn668Lys)
c.1944C>G (p.Asn648Lys)
c.1959C>G (p.Asn653Lys)
c.2121C>G (p.Asn707Lys)
c.2202C>G (p.Asn734Lys)
c.*221C>G (n.*221C>G)
n.666C>G
c.2442C>G (p.Asn814Lys)
c.2016C>G (p.Asn672Lys)
c.2040C>G (p.Asn680Lys)
n.2171C>G
c.2436C>G (p.Asn812Lys)
n.2616C>G
n.2596C>G
c.2088C>G (p.Asn696Lys)
n.2581C>G
20g.3228957G=CA2346475254SLC4A11c.2073C= (p.Asn691=)
c.2004C= (p.Asn668=)
c.1944C= (p.Asn648=)
c.1959C= (p.Asn653=)
c.2121C= (p.Asn707=)
c.2202C= (p.Asn734=)
c.*221C= (n.*221C=)
n.666C=
c.2442C= (p.Asn814=)
c.2016C= (p.Asn672=)
c.2040C= (p.Asn680=)
n.2171C=
c.2436C= (p.Asn812=)
n.2616C=
n.2596C=
c.2088C= (p.Asn696=)
n.2581C=
20g.3228957G>TCA408087077SLC4A11c.2073C>A (p.Asn691Lys)
c.2004C>A (p.Asn668Lys)
c.1944C>A (p.Asn648Lys)
c.1959C>A (p.Asn653Lys)
c.2121C>A (p.Asn707Lys)
c.2202C>A (p.Asn734Lys)
c.*221C>A (n.*221C>A)
n.666C>A
c.2442C>A (p.Asn814Lys)
c.2016C>A (p.Asn672Lys)
c.2040C>A (p.Asn680Lys)
n.2171C>A
c.2436C>A (p.Asn812Lys)
n.2616C>A
n.2596C>A
c.2088C>A (p.Asn696Lys)
n.2581C>A
20g.3228958T>ACA408087078SLC4A11c.2072A>T (p.Asn691Ile)
c.2003A>T (p.Asn668Ile)
c.1943A>T (p.Asn648Ile)
c.1958A>T (p.Asn653Ile)
c.2120A>T (p.Asn707Ile)
c.2201A>T (p.Asn734Ile)
c.*220A>T (n.*220A>T)
n.665A>T
c.2441A>T (p.Asn814Ile)
c.2015A>T (p.Asn672Ile)
c.2039A>T (p.Asn680Ile)
n.2170A>T
c.2435A>T (p.Asn812Ile)
n.2615A>T
n.2595A>T
c.2087A>T (p.Asn696Ile)
n.2580A>T
20g.3228958T>CCA408087079SLC4A11c.2072A>G (p.Asn691Ser)
c.2003A>G (p.Asn668Ser)
c.1943A>G (p.Asn648Ser)
c.1958A>G (p.Asn653Ser)
c.2120A>G (p.Asn707Ser)
c.2201A>G (p.Asn734Ser)
c.*220A>G (n.*220A>G)
n.665A>G
c.2441A>G (p.Asn814Ser)
c.2015A>G (p.Asn672Ser)
c.2039A>G (p.Asn680Ser)
n.2170A>G
c.2435A>G (p.Asn812Ser)
n.2615A>G
n.2595A>G
c.2087A>G (p.Asn696Ser)
n.2580A>G
 COSMIC COSMIC
20g.3228958T>GCA408087080SLC4A11c.2072A>C (p.Asn691Thr)
c.2003A>C (p.Asn668Thr)
c.1943A>C (p.Asn648Thr)
c.1958A>C (p.Asn653Thr)
c.2120A>C (p.Asn707Thr)
c.2201A>C (p.Asn734Thr)
c.*220A>C (n.*220A>C)
n.665A>C
c.2441A>C (p.Asn814Thr)
c.2015A>C (p.Asn672Thr)
c.2039A>C (p.Asn680Thr)
n.2170A>C
c.2435A>C (p.Asn812Thr)
n.2615A>C
n.2595A>C
c.2087A>C (p.Asn696Thr)
n.2580A>C
20g.3228958_3228961delinsTTGACA2346475255SLC4A11c.2069_2072delinsTCAA (p.Ile690=)
c.2000_2003delinsTCAA (p.Ile667=)
c.1940_1943delinsTCAA (p.Ile647=)
c.1955_1958delinsTCAA (p.Ile652=)
c.2117_2120delinsTCAA (p.Ile706=)
c.2198_2201delinsTCAA (p.Ile733=)
c.*217_*220delinsTCAA (n.*217_*220delinsTCAA)
n.662_665delinsTCAA
c.2438_2441delinsTCAA (p.Ile813=)
c.2012_2015delinsTCAA (p.Ile671=)
c.2036_2039delinsTCAA (p.Ile679=)
n.2167_2170delinsTCAA
c.2432_2435delinsTCAA (p.Ile811=)
n.2612_2615delinsTCAA
n.2592_2595delinsTCAA
c.2084_2087delinsTCAA (p.Ile695=)
n.2577_2580delinsTCAA
20g.3228959T>ACA408087081SLC4A11c.2071A>T (p.Asn691Tyr)
c.2002A>T (p.Asn668Tyr)
c.1942A>T (p.Asn648Tyr)
c.1957A>T (p.Asn653Tyr)
c.2119A>T (p.Asn707Tyr)
c.2200A>T (p.Asn734Tyr)
c.*219A>T (n.*219A>T)
n.664A>T
c.2440A>T (p.Asn814Tyr)
c.2014A>T (p.Asn672Tyr)
c.2038A>T (p.Asn680Tyr)
n.2169A>T
c.2434A>T (p.Asn812Tyr)
n.2614A>T
n.2594A>T
c.2086A>T (p.Asn696Tyr)
n.2579A>T
20g.3228959T>CCA408087082SLC4A11c.2071A>G (p.Asn691Asp)
c.2002A>G (p.Asn668Asp)
c.1942A>G (p.Asn648Asp)
c.1957A>G (p.Asn653Asp)
c.2119A>G (p.Asn707Asp)
c.2200A>G (p.Asn734Asp)
c.*219A>G (n.*219A>G)
n.664A>G
c.2440A>G (p.Asn814Asp)
c.2014A>G (p.Asn672Asp)
c.2038A>G (p.Asn680Asp)
n.2169A>G
c.2434A>G (p.Asn812Asp)
n.2614A>G
n.2594A>G
c.2086A>G (p.Asn696Asp)
n.2579A>G
20g.3228959T>GCA408087083SLC4A11c.2071A>C (p.Asn691His)
c.2002A>C (p.Asn668His)
c.1942A>C (p.Asn648His)
c.1957A>C (p.Asn653His)
c.2119A>C (p.Asn707His)
c.2200A>C (p.Asn734His)
c.*219A>C (n.*219A>C)
n.664A>C
c.2440A>C (p.Asn814His)
c.2014A>C (p.Asn672His)
c.2038A>C (p.Asn680His)
n.2169A>C
c.2434A>C (p.Asn812His)
n.2614A>C
n.2594A>C
c.2086A>C (p.Asn696His)
n.2579A>C
20g.3228964_3228966delCA920153246SLC4A11c.2069_2071del (p.Ile690del)
c.2000_2002del (p.Ile667del)
c.1940_1942del (p.Ile647del)
c.1955_1957del (p.Ile652del)
c.2117_2119del (p.Ile706del)
c.2198_2200del (p.Ile733del)
c.*217_*219del (n.*217_*219del)
n.662_664del
c.2438_2440del (p.Ile813del)
c.2012_2014del (p.Ile671del)
c.2036_2038del (p.Ile679del)
n.2167_2169del
c.2432_2434del (p.Ile811del)
n.2612_2614del
n.2592_2594del
c.2084_2086del (p.Ile695del)
n.2577_2579del
 dbSNP gnomAD v4
20g.3228960G>ACA509558306SLC4A11c.2070C>T (p.Ile690=)
c.2001C>T (p.Ile667=)
c.1941C>T (p.Ile647=)
c.1956C>T (p.Ile652=)
c.2118C>T (p.Ile706=)
c.2199C>T (p.Ile733=)
c.*218C>T (n.*218C>T)
n.663C>T
c.2439C>T (p.Ile813=)
c.2013C>T (p.Ile671=)
c.2037C>T (p.Ile679=)
n.2168C>T
c.2433C>T (p.Ile811=)
n.2613C>T
n.2593C>T
c.2085C>T (p.Ile695=)
n.2578C>T
 gnomAD v4
20g.3228960G>CCA408087084SLC4A11c.2070C>G (p.Ile690Met)
c.2001C>G (p.Ile667Met)
c.1941C>G (p.Ile647Met)
c.1956C>G (p.Ile652Met)
c.2118C>G (p.Ile706Met)
c.2199C>G (p.Ile733Met)
c.*218C>G (n.*218C>G)
n.663C>G
c.2439C>G (p.Ile813Met)
c.2013C>G (p.Ile671Met)
c.2037C>G (p.Ile679Met)
n.2168C>G
c.2433C>G (p.Ile811Met)
n.2613C>G
n.2593C>G
c.2085C>G (p.Ile695Met)
n.2578C>G
20g.3228960G>TCA509558305SLC4A11c.2070C>A (p.Ile690=)
c.2001C>A (p.Ile667=)
c.1941C>A (p.Ile647=)
c.1956C>A (p.Ile652=)
c.2118C>A (p.Ile706=)
c.2199C>A (p.Ile733=)
c.*218C>A (n.*218C>A)
n.663C>A
c.2439C>A (p.Ile813=)
c.2013C>A (p.Ile671=)
c.2037C>A (p.Ile679=)
n.2168C>A
c.2433C>A (p.Ile811=)
n.2613C>A
n.2593C>A
c.2085C>A (p.Ile695=)
n.2578C>A

Number of alleles fetched