Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3228863C>A | CA408086783 | SLC4A11 | c.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 | |
20 | g.3228863C>G | CA408086784 | SLC4A11 | c.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 | |
20 | g.3228863C>T | CA408086786 | SLC4A11 | c.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 | |
20 | g.3228864A>C | CA509558162 | SLC4A11 | c.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 | |
20 | g.3228864A>G | CA509558163 | SLC4A11 | c.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 | |
20 | g.3228864A>T | CA509558164 | SLC4A11 | c.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 | |
20 | g.3228865C>A | CA9741572 | SLC4A11 | c.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 |
20 | g.3228865C= | CA2346475209 | SLC4A11 | c.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= | |
20 | g.3228865C>G | CA408086791 | SLC4A11 | c.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 |
20 | g.3228865C>T | CA9741571 | SLC4A11 | c.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 |
20 | g.3228866G>A | CA9741573 | SLC4A11 | c.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 |
20 | g.3228866G>C | CA408086796 | SLC4A11 | c.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 | |
20 | g.3228866G= | CA2346475210 | SLC4A11 | c.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= | |
20 | g.3228866G>T | CA408086799 | SLC4A11 | c.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 |
20 | g.3228867C>A | CA408086802 | SLC4A11 | c.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 | |
20 | g.3228867C= | CA2346475211 | SLC4A11 | c.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= | |
20 | g.3228867C>G | CA408086804 | SLC4A11 | c.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 | |
20 | g.3228867C>T | CA509558166 | SLC4A11 | c.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 |
20 | g.3228868T>A | CA408086811 | SLC4A11 | c.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 | |
20 | g.3228868T>C | CA408086810 | SLC4A11 | c.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 | |
20 | g.3228868T>G | CA408086808 | SLC4A11 | c.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 | |
20 | g.3228869C>A | CA408086814 | SLC4A11 | c.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 | |
20 | g.3228869C= | CA2346475212 | SLC4A11 | c.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= | |
20 | g.3228869C>G | CA408086813 | SLC4A11 | c.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 | |
20 | g.3228869C>T | CA408086816 | SLC4A11 | c.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 |
20 | g.3228870C>A | CA408086818 | SLC4A11 | c.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 | |
20 | g.3228870C= | CA2346475213 | SLC4A11 | c.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= | |
20 | g.3228870C>G | CA408086819 | SLC4A11 | c.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 |
20 | g.3228870C>T | CA509558168 | SLC4A11 | c.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 |
20 | g.3228871T>A | CA408086821 | SLC4A11 | c.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 | |
20 | g.3228871T>C | CA310985850 | SLC4A11 | c.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 |
20 | g.3228871T>G | CA408086824 | SLC4A11 | c.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 | |
20 | g.3228871T= | CA2346475214 | SLC4A11 | c.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= | |
20 | g.3228872C>A | CA408086827 | SLC4A11 | c.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 |
20 | g.3228872C= | CA2346475215 | SLC4A11 | c.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= | |
20 | g.3228872C>G | CA408086829 | SLC4A11 | c.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 |
20 | g.3228872C>T | CA408086832 | SLC4A11 | c.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 |
20 | g.3228873C>A | CA509558171 | SLC4A11 | c.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 | |
20 | g.3228873C= | CA2346475216 | SLC4A11 | c.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= | |
20 | g.3228873C>G | CA509558173 | SLC4A11 | c.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 | |
20 | g.3228873C>T | CA509558172 | SLC4A11 | c.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 |
20 | g.3228874A>C | CA408086834 | SLC4A11 | c.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 | |
20 | g.3228874A>G | CA408086837 | SLC4A11 | c.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 | |
20 | g.3228874A>T | CA408086839 | SLC4A11 | c.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 | |
20 | g.3228875C>A | CA408086846 | SLC4A11 | c.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 | |
20 | g.3228875C>G | CA408086844 | SLC4A11 | c.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 | |
20 | g.3228875C>T | CA408086842 | SLC4A11 | c.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 | |
20 | g.3228876T>A | CA408086847 | SLC4A11 | c.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 | |
20 | g.3228876T>C | CA509558176 | SLC4A11 | c.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 |
20 | g.3228876T>G | CA408086849 | SLC4A11 | c.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 | |
20 | g.3228877A>C | CA408086851 | SLC4A11 | c.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 | |
20 | g.3228877A>G | CA408086852 | SLC4A11 | c.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 | |
20 | g.3228877A>T | CA408086855 | SLC4A11 | c.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 | |
20 | g.3228878A>C | CA408086858 | SLC4A11 | c.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 | |
20 | g.3228878A>G | CA509558177 | SLC4A11 | c.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 | |
20 | g.3228878A>T | CA408086860 | SLC4A11 | c.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 | |
20 | g.3228879G>A | CA509558178 | SLC4A11 | c.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 |
20 | g.3228879G>C | CA9741574 | SLC4A11 | c.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 |
20 | g.3228879G= | CA2346475217 | SLC4A11 | c.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= | |
20 | g.3228879G>T | CA9741575 | SLC4A11 | c.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 |
20 | g.3228880G>A | CA408086866 | SLC4A11 | c.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 | |
20 | g.3228880G>C | CA408086868 | SLC4A11 | c.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 | |
20 | g.3228880G>T | CA408086870 | SLC4A11 | c.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 | |
20 | g.3228881C>A | CA408086876 | SLC4A11 | c.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 | |
20 | g.3228881C>G | CA408086878 | SLC4A11 | c.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 | |
20 | g.3228881C>T | CA408086873 | SLC4A11 | c.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 | |
20 | g.3228882C>A | CA9741576 | SLC4A11 | c.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 |
20 | g.3228882C= | CA2346475218 | SLC4A11 | c.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= | |
20 | g.3228882C>G | CA509558180 | SLC4A11 | c.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 | |
20 | g.3228882C>T | CA509558179 | SLC4A11 | c.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 | |
20 | g.3228883A>C | CA408086883 | SLC4A11 | c.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 | |
20 | g.3228883A>G | CA408086885 | SLC4A11 | c.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 | |
20 | g.3228883A>T | CA408086887 | SLC4A11 | c.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 | |
20 | g.3228883dup | CA2695229231 | SLC4A11 | c.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 | |
20 | g.3228884G>A | CA509558181 | SLC4A11 | c.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 |
20 | g.3228884G>C | CA408086889 | SLC4A11 | c.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 | |
20 | g.3228884G>T | CA408086891 | SLC4A11 | c.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 | |
20 | g.3228885G>A | CA9741577 | SLC4A11 | c.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 |
20 | g.3228885G>C | CA509558183 | SLC4A11 | c.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 | |
20 | g.3228885G= | CA2346475219 | SLC4A11 | c.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= | |
20 | g.3228885G>T | CA509558184 | SLC4A11 | c.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 | |
20 | g.3228886G>A | CA408086897 | SLC4A11 | c.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 |
20 | g.3228886G>C | CA408086899 | SLC4A11 | c.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 | |
20 | g.3228886G= | CA2346475220 | SLC4A11 | c.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= | |
20 | g.3228886G>T | CA408086901 | SLC4A11 | c.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 | |
20 | g.3228887C>A | CA408086904 | SLC4A11 | c.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 | |
20 | g.3228887C>G | CA408086906 | SLC4A11 | c.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 | |
20 | g.3228887C>T | CA408086909 | SLC4A11 | c.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 |
20 | g.3228888T>A | CA509558185 | SLC4A11 | c.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 | |
20 | g.3228888T>C | CA509558186 | SLC4A11 | c.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 | |
20 | g.3228888T>G | CA509558187 | SLC4A11 | c.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 | |
20 | g.3228889C>A | CA408086915 | SLC4A11 | c.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 | |
20 | g.3228889C= | CA2346475221 | SLC4A11 | c.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= | |
20 | g.3228889C>G | CA408086913 | SLC4A11 | c.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 | |
20 | g.3228889C>T | CA9741578 | SLC4A11 | c.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 |
20 | g.3228889_3228898delinsCGCACGTGCA | CA2346475222 | SLC4A11 | c.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 | |
20 | g.3228890del | CA2739277020 | SLC4A11 | c.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 |
20 | g.3228890G>A | CA9741579 | SLC4A11 | c.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 |
20 | g.3228890G>C | CA408086920 | SLC4A11 | c.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 |
20 | g.3228890G= | CA2346475224 | SLC4A11 | c.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= | |
20 | g.3228890G>T | CA509558190 | SLC4A11 | c.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 | |
20 | g.3228892_3228900del | CA2346475223 | SLC4A11 | c.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 |
20 | g.3228891C>A | CA509558192 | SLC4A11 | c.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 | |
20 | g.3228891C>G | CA509558193 | SLC4A11 | c.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 | |
20 | g.3228891C>T | CA509558194 | SLC4A11 | c.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 | |
20 | g.3228892A>C | CA408086923 | SLC4A11 | c.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 | |
20 | g.3228892A>G | CA408086925 | SLC4A11 | c.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 | |
20 | g.3228892A>T | CA408086926 | SLC4A11 | c.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 |
20 | g.3228893C>A | CA408086929 | SLC4A11 | c.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 | |
20 | g.3228893C= | CA2346475225 | SLC4A11 | c.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= | |
20 | g.3228893C>G | CA408086931 | SLC4A11 | c.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 |
20 | g.3228893C>T | CA9741580 | SLC4A11 | c.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 |
20 | g.3228894G>A | CA9741581 | SLC4A11 | c.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 |
20 | g.3228894G>C | CA408086937 | SLC4A11 | c.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 |
20 | g.3228894G= | CA2346475226 | SLC4A11 | c.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= | |
20 | g.3228894G>T | CA408086939 | SLC4A11 | c.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 |
20 | g.3228895T>A | CA408086941 | SLC4A11 | c.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 | |
20 | g.3228895T>C | CA408086943 | SLC4A11 | c.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 | |
20 | g.3228895T>G | CA408086946 | SLC4A11 | c.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 | |
20 | g.3228896G>A | CA408086951 | SLC4A11 | c.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 |
20 | g.3228896G>C | CA408086953 | SLC4A11 | c.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 | |
20 | g.3228896G>T | CA408086949 | SLC4A11 | c.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 |
20 | g.3228897C>A | CA509558197 | SLC4A11 | c.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 | |
20 | g.3228897C>G | CA509558198 | SLC4A11 | c.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 | |
20 | g.3228897C>T | CA509558200 | SLC4A11 | c.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 | |
20 | g.3228898A= | CA2346475227 | SLC4A11 | c.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= | |
20 | g.3228898A>C | CA408086955 | SLC4A11 | c.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 | |
20 | g.3228898A>G | CA9741582 | SLC4A11 | c.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 |
20 | g.3228898A>T | CA408086957 | SLC4A11 | c.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 | |
20 | g.3228899G>A | CA509558202 | SLC4A11 | c.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 | |
20 | g.3228899G>C | CA408086958 | SLC4A11 | c.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 | |
20 | g.3228899G>T | CA408086959 | SLC4A11 | c.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 | |
20 | g.3228900C>A | CA509558206 | SLC4A11 | c.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 | |
20 | g.3228900C= | CA2346475228 | SLC4A11 | c.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= | |
20 | g.3228900C>G | CA509558207 | SLC4A11 | c.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 | |
20 | g.3228900C>T | CA9741583 | SLC4A11 | c.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 |
20 | g.3228901G>A | CA9741584 | SLC4A11 | c.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 |
20 | g.3228901G>C | CA408086960 | SLC4A11 | c.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 | |
20 | g.3228901G= | CA2346475229 | SLC4A11 | c.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= | |
20 | g.3228901G>T | CA408086961 | SLC4A11 | c.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 | |
20 | g.3228902G>A | CA9741585 | SLC4A11 | c.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 |
20 | g.3228902G>C | CA408086962 | SLC4A11 | c.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 | |
20 | g.3228902G= | CA2346475230 | SLC4A11 | c.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= | |
20 | g.3228902G>T | CA408086963 | SLC4A11 | c.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 |
20 | g.3228903G>A | CA509558214 | SLC4A11 | c.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 |
20 | g.3228903G>C | CA509558212 | SLC4A11 | c.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 | |
20 | g.3228903G= | CA2346475231 | SLC4A11 | c.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= | |
20 | g.3228903G>T | CA509558211 | SLC4A11 | c.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 | |
20 | g.3228904G>A | CA408086964 | SLC4A11 | c.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 | |
20 | g.3228904G>C | CA408086965 | SLC4A11 | c.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 |
20 | g.3228904G>T | CA408086966 | SLC4A11 | c.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 | |
20 | g.3228905A>C | CA408086967 | SLC4A11 | c.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 | |
20 | g.3228905A>G | CA408086968 | SLC4A11 | c.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 | |
20 | g.3228905A>T | CA408086969 | SLC4A11 | c.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 | |
20 | g.3228906G>A | CA9741586 | SLC4A11 | c.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 |
20 | g.3228906G>C | CA408086971 | SLC4A11 | c.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 |
20 | g.3228906G= | CA2346475232 | SLC4A11 | c.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= | |
20 | g.3228906G>T | CA408086970 | SLC4A11 | c.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 |
20 | g.3228907T>A | CA408086972 | SLC4A11 | c.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 | |
20 | g.3228907T>C | CA408086973 | SLC4A11 | c.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 |
20 | g.3228907T>G | CA408086974 | SLC4A11 | c.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 | |
20 | g.3228907T= | CA2346475233 | SLC4A11 | c.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= | |
20 | g.3228907_3228908delinsTG | CA2346475234 | SLC4A11 | c.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 | |
20 | g.3228908G>A | CA408086975 | SLC4A11 | c.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 |
20 | g.3228908G>C | CA408086976 | SLC4A11 | c.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 | |
20 | g.3228908G= | CA2346475235 | SLC4A11 | c.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= | |
20 | g.3228908G>T | CA9741587 | SLC4A11 | c.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 |
20 | g.3228912del | CA634329259 | SLC4A11 | c.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 |
20 | g.3228909G>A | CA509558223 | SLC4A11 | c.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 |
20 | g.3228909G>C | CA509558224 | SLC4A11 | c.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 |
20 | g.3228909G= | CA2346475236 | SLC4A11 | c.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= | |
20 | g.3228909G>T | CA509558225 | SLC4A11 | c.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 |
20 | g.3228910G>A | CA408086977 | SLC4A11 | c.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 |
20 | g.3228910G>C | CA408086978 | SLC4A11 | c.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 | |
20 | g.3228910G>T | CA408086979 | SLC4A11 | c.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 | |
20 | g.3228911G>A | CA408086980 | SLC4A11 | c.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 |
20 | g.3228911G>C | CA408086981 | SLC4A11 | c.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 | |
20 | g.3228911G>T | CA408086982 | SLC4A11 | c.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 | |
20 | g.3228912G>A | CA9741588 | SLC4A11 | c.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 |
20 | g.3228912G>C | CA408086984 | SLC4A11 | c.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 | |
20 | g.3228912G= | CA2346475237 | SLC4A11 | c.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= | |
20 | g.3228912G>T | CA408086983 | SLC4A11 | c.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 | |
20 | g.3228913T>A | CA408086985 | SLC4A11 | c.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 |
20 | g.3228913T>C | CA408086986 | SLC4A11 | c.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 | |
20 | g.3228913T>G | CA408086987 | SLC4A11 | c.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 | |
20 | g.3228914A>C | CA408086988 | SLC4A11 | c.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 | |
20 | g.3228914A>G | CA408086989 | SLC4A11 | c.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 | |
20 | g.3228914A>T | CA408086990 | SLC4A11 | c.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 | |
20 | g.3228915G>A | CA509558233 | SLC4A11 | c.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 | |
20 | g.3228915G>C | CA509558234 | SLC4A11 | c.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 | |
20 | g.3228915G>T | CA509558235 | SLC4A11 | c.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 | |
20 | g.3228916G>A | CA408086991 | SLC4A11 | c.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 |
20 | g.3228916G>C | CA408086992 | SLC4A11 | c.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 | |
20 | g.3228916G>T | CA408086993 | SLC4A11 | c.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 | |
20 | g.3228917C>A | CA408086994 | SLC4A11 | c.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 | |
20 | g.3228917C= | CA2346475238 | SLC4A11 | c.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= | |
20 | g.3228917C>G | CA408086995 | SLC4A11 | c.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 | |
20 | g.3228917C>T | CA9741589 | SLC4A11 | c.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 |
20 | g.3228918G>A | CA9741590 | SLC4A11 | c.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 |
20 | g.3228918G>C | CA509558237 | SLC4A11 | c.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 | |
20 | g.3228918G= | CA2346475239 | SLC4A11 | c.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= | |
20 | g.3228918G>T | CA509558238 | SLC4A11 | c.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 | |
20 | g.3228919G>A | CA310985932 | SLC4A11 | c.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 |
20 | g.3228919G>C | CA408086996 | SLC4A11 | c.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 | |
20 | g.3228919G= | CA2346475240 | SLC4A11 | c.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= | |
20 | g.3228919G>T | CA408086997 | SLC4A11 | c.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 |
20 | g.3228920C>A | CA408086998 | SLC4A11 | c.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 | |
20 | g.3228920C>G | CA408086999 | SLC4A11 | c.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 | |
20 | g.3228920C>T | CA408087000 | SLC4A11 | c.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 | |
20 | g.3228921A= | CA2346475241 | SLC4A11 | c.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= | |
20 | g.3228921A>C | CA408087001 | SLC4A11 | c.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 | |
20 | g.3228921A>G | CA9741591 | SLC4A11 | c.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 |
20 | g.3228921A>T | CA408087002 | SLC4A11 | c.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 | |
20 | g.3228922T>A | CA408087003 | SLC4A11 | c.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 | |
20 | g.3228922T>C | CA408087004 | SLC4A11 | c.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 |
20 | g.3228922T>G | CA408087005 | SLC4A11 | c.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 | |
20 | g.3228922T= | CA2346475242 | SLC4A11 | c.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= | |
20 | g.3228923G>A | CA408087006 | SLC4A11 | c.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 |
20 | g.3228923G>C | CA408087007 | SLC4A11 | c.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 | |
20 | g.3228923G>T | CA408087008 | SLC4A11 | c.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 | |
20 | g.3228924G>A | CA9741592 | SLC4A11 | c.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 |
20 | g.3228924G>C | CA408087009 | SLC4A11 | c.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 | |
20 | g.3228924G= | CA2346475243 | SLC4A11 | c.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= | |
20 | g.3228924G>T | CA509558244 | SLC4A11 | c.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 | |
20 | g.3228925A>C | CA408087010 | SLC4A11 | c.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 | |
20 | g.3228925A>G | CA408087012 | SLC4A11 | c.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 | |
20 | g.3228925A>T | CA408087011 | SLC4A11 | c.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 | |
20 | g.3228926T>A | CA408087013 | SLC4A11 | c.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 | |
20 | g.3228926T>C | CA408087014 | SLC4A11 | c.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 | |
20 | g.3228926T>G | CA408087015 | SLC4A11 | c.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 | |
20 | g.3228927C>A | CA408087016 | SLC4A11 | c.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 | |
20 | g.3228927C= | CA2346475244 | SLC4A11 | c.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= | |
20 | g.3228927C>G | CA408087017 | SLC4A11 | c.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 | |
20 | g.3228927C>T | CA408087018 | SLC4A11 | c.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 | |
20 | g.3228928C>A | CA408087019 | SLC4A11 | c.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 | |
20 | g.3228928C= | CA2346475245 | SLC4A11 | c.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= | |
20 | g.3228928C>G | CA408087020 | SLC4A11 | c.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 | |
20 | g.3228928C>T | CA9741593 | SLC4A11 | c.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 |
20 | g.3228929A>C | CA408087021 | SLC4A11 | c.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 | |
20 | g.3228929A>G | CA408087022 | SLC4A11 | c.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 | |
20 | g.3228929A>T | CA408087023 | SLC4A11 | c.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 | |
20 | g.3228930A>C | CA509558257 | SLC4A11 | c.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 | |
20 | g.3228930A>G | CA509558258 | SLC4A11 | c.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 | |
20 | g.3228930A>T | CA509558259 | SLC4A11 | c.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 | |
20 | g.3228931G>A | CA408087026 | SLC4A11 | c.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 |
20 | g.3228931G>C | CA408087024 | SLC4A11 | c.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 | |
20 | g.3228931G>T | CA408087025 | SLC4A11 | c.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 | |
20 | g.3228932G>A | CA408087027 | SLC4A11 | c.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 |
20 | g.3228932G>C | CA408087028 | SLC4A11 | c.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 | |
20 | g.3228932G= | CA2346475246 | SLC4A11 | c.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= | |
20 | g.3228932G>T | CA408087029 | SLC4A11 | c.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 | |
20 | g.3228933C>A | CA509558260 | SLC4A11 | c.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 | |
20 | g.3228933C>G | CA509558261 | SLC4A11 | c.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 | |
20 | g.3228933C>T | CA509558262 | SLC4A11 | c.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 |
20 | g.3228934A= | CA2346475247 | SLC4A11 | c.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= | |
20 | g.3228934A>C | CA408087030 | SLC4A11 | c.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 | |
20 | g.3228934A>G | CA408087031 | SLC4A11 | c.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 |
20 | g.3228934A>T | CA408087032 | SLC4A11 | c.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 | |
20 | g.3228935G>A | CA509558263 | SLC4A11 | c.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 |
20 | g.3228935G>C | CA408087033 | SLC4A11 | c.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 |
20 | g.3228935G>T | CA408087034 | SLC4A11 | c.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 | |
20 | g.3228936C>A | CA509558264 | SLC4A11 | c.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 | |
20 | g.3228936C>G | CA509558267 | SLC4A11 | c.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 | |
20 | g.3228936C>T | CA509558266 | SLC4A11 | c.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 |
20 | g.3228937C>A | CA408087035 | SLC4A11 | c.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 |
20 | g.3228937C= | CA2346475249 | SLC4A11 | c.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= | |
20 | g.3228937C>G | CA408087036 | SLC4A11 | c.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 | |
20 | g.3228937C>T | CA408087037 | SLC4A11 | c.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 | |
20 | g.3228937_3228941delinsCCAAA | CA2346475248 | SLC4A11 | c.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 | |
20 | g.3228938C>A | CA408087040 | SLC4A11 | c.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 |
20 | g.3228938C>G | CA408087039 | SLC4A11 | c.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 | |
20 | g.3228938C>T | CA408087038 | SLC4A11 | c.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 | |
20 | g.3228940_3228943del | CA743604099 | SLC4A11 | c.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 |
20 | g.3228939A>C | CA408087041 | SLC4A11 | c.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 | |
20 | g.3228939A>G | CA509558272 | SLC4A11 | c.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 | |
20 | g.3228939A>T | CA408087042 | SLC4A11 | c.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 | |
20 | g.3228940A>C | CA408087043 | SLC4A11 | c.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 | |
20 | g.3228940A>G | CA408087044 | SLC4A11 | c.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 | |
20 | g.3228940A>T | CA408087045 | SLC4A11 | c.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 | |
20 | g.3228941A>C | CA408087046 | SLC4A11 | c.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 | |
20 | g.3228941A>G | CA408087047 | SLC4A11 | c.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 | |
20 | g.3228941A>T | CA408087048 | SLC4A11 | c.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 | |
20 | g.3228942C>A | CA509558274 | SLC4A11 | c.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 | |
20 | g.3228942C>G | CA509558278 | SLC4A11 | c.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 | |
20 | g.3228942C>T | CA509558279 | SLC4A11 | c.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 | |
20 | g.3228943A>C | CA408087049 | SLC4A11 | c.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 | |
20 | g.3228943A>G | CA408087050 | SLC4A11 | c.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 | |
20 | g.3228943A>T | CA408087051 | SLC4A11 | c.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 | |
20 | g.3228944G>A | CA509558283 | SLC4A11 | c.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 | |
20 | g.3228944G>C | CA408087052 | SLC4A11 | c.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 | |
20 | g.3228944G>T | CA408087053 | SLC4A11 | c.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 | |
20 | g.3228945A>C | CA509558287 | SLC4A11 | c.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 | |
20 | g.3228945A>G | CA509558286 | SLC4A11 | c.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 |
20 | g.3228945A>T | CA509558285 | SLC4A11 | c.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 | |
20 | g.3228946G>A | CA408087056 | SLC4A11 | c.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 |
20 | g.3228946G>C | CA408087054 | SLC4A11 | c.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 | |
20 | g.3228946G= | CA2346475250 | SLC4A11 | c.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= | |
20 | g.3228946G>T | CA408087055 | SLC4A11 | c.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 | |
20 | g.3228947A>C | CA408087057 | SLC4A11 | c.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 | |
20 | g.3228947A>G | CA408087058 | SLC4A11 | c.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 | |
20 | g.3228947A>T | CA408087059 | SLC4A11 | c.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 |
20 | g.3228948C>A | CA509558291 | SLC4A11 | c.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 | |
20 | g.3228948C>G | CA509558292 | SLC4A11 | c.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 | |
20 | g.3228948C>T | CA509558293 | SLC4A11 | c.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 | |
20 | g.3228949A>C | CA408087060 | SLC4A11 | c.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 | |
20 | g.3228949A>G | CA408087061 | SLC4A11 | c.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 | |
20 | g.3228949A>T | CA408087062 | SLC4A11 | c.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 | |
20 | g.3228950G>A | CA509558294 | SLC4A11 | c.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 | |
20 | g.3228950G>C | CA408087063 | SLC4A11 | c.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 | |
20 | g.3228950G>T | CA408087064 | SLC4A11 | c.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 | |
20 | g.3228951C>A | CA509558295 | SLC4A11 | c.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 | |
20 | g.3228951C= | CA2346475251 | SLC4A11 | c.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= | |
20 | g.3228951C>G | CA509558296 | SLC4A11 | c.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 |
20 | g.3228951C>T | CA509558297 | SLC4A11 | c.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 |
20 | g.3228953del | CA2695229232 | SLC4A11 | c.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 | |
20 | g.3228952C>A | CA408087065 | SLC4A11 | c.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 | |
20 | g.3228952C= | CA2346475252 | SLC4A11 | c.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= | |
20 | g.3228952C>G | CA408087066 | SLC4A11 | c.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 | |
20 | g.3228952C>T | CA114924 | SLC4A11 | c.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 |
20 | g.3228953C>A | CA408087069 | SLC4A11 | c.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 | |
20 | g.3228953C>G | CA408087068 | SLC4A11 | c.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 | |
20 | g.3228953C>T | CA408087067 | SLC4A11 | c.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 | |
20 | g.3228954T>A | CA509558299 | SLC4A11 | c.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 | |
20 | g.3228954T>C | CA509558300 | SLC4A11 | c.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 | |
20 | g.3228954T>G | CA509558301 | SLC4A11 | c.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 | |
20 | g.3228955G>A | CA408087070 | SLC4A11 | c.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 | |
20 | g.3228955G>C | CA408087072 | SLC4A11 | c.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 | |
20 | g.3228955G>T | CA408087071 | SLC4A11 | c.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 | |
20 | g.3228956T>A | CA408087073 | SLC4A11 | c.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 | |
20 | g.3228956T>C | CA408087074 | SLC4A11 | c.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 |
20 | g.3228956T>G | CA408087075 | SLC4A11 | c.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 | |
20 | g.3228956T= | CA2346475253 | SLC4A11 | c.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= | |
20 | g.3228957G>A | CA9741594 | SLC4A11 | c.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 |
20 | g.3228957G>C | CA408087076 | SLC4A11 | c.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 | |
20 | g.3228957G= | CA2346475254 | SLC4A11 | c.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= | |
20 | g.3228957G>T | CA408087077 | SLC4A11 | c.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 | |
20 | g.3228958T>A | CA408087078 | SLC4A11 | c.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 | |
20 | g.3228958T>C | CA408087079 | SLC4A11 | c.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 |
20 | g.3228958T>G | CA408087080 | SLC4A11 | c.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 | |
20 | g.3228958_3228961delinsTTGA | CA2346475255 | SLC4A11 | c.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 | |
20 | g.3228959T>A | CA408087081 | SLC4A11 | c.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 | |
20 | g.3228959T>C | CA408087082 | SLC4A11 | c.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 | |
20 | g.3228959T>G | CA408087083 | SLC4A11 | c.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 | |
20 | g.3228964_3228966del | CA920153246 | SLC4A11 | c.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 |
20 | g.3228960G>A | CA509558306 | SLC4A11 | c.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 |
20 | g.3228960G>C | CA408087084 | SLC4A11 | c.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 | |
20 | g.3228960G>T | CA509558305 | SLC4A11 | c.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 | |
20 | g.3228961A>C | CA408087087 | SLC4A11 | c.2069T>G (p.Ile690Ser) c.2000T>G (p.Ile667Ser) c.1940T>G (p.Ile647Ser) c.1955T>G (p.Ile652Ser) c.2117T>G (p.Ile706Ser) c.2198T>G (p.Ile733Ser) c.*217T>G (n.*217T>G) n.662T>G c.2438T>G (p.Ile813Ser) c.2012T>G (p.Ile671Ser) c.2036T>G (p.Ile679Ser) n.2167T>G c.2432T>G (p.Ile811Ser) n.2612T>G n.2592T>G c.2084T>G (p.Ile695Ser) n.2577T>G | |
20 | g.3228961A>G | CA408087086 | SLC4A11 | c.2069T>C (p.Ile690Thr) c.2000T>C (p.Ile667Thr) c.1940T>C (p.Ile647Thr) c.1955T>C (p.Ile652Thr) c.2117T>C (p.Ile706Thr) c.2198T>C (p.Ile733Thr) c.*217T>C (n.*217T>C) n.662T>C c.2438T>C (p.Ile813Thr) c.2012T>C (p.Ile671Thr) c.2036T>C (p.Ile679Thr) n.2167T>C c.2432T>C (p.Ile811Thr) n.2612T>C n.2592T>C c.2084T>C (p.Ile695Thr) n.2577T>C | |
20 | g.3228961A>T | CA408087085 | SLC4A11 | c.2069T>A (p.Ile690Asn) c.2000T>A (p.Ile667Asn) c.1940T>A (p.Ile647Asn) c.1955T>A (p.Ile652Asn) c.2117T>A (p.Ile706Asn) c.2198T>A (p.Ile733Asn) c.*217T>A (n.*217T>A) n.662T>A c.2438T>A (p.Ile813Asn) c.2012T>A (p.Ile671Asn) c.2036T>A (p.Ile679Asn) n.2167T>A c.2432T>A (p.Ile811Asn) n.2612T>A n.2592T>A c.2084T>A (p.Ile695Asn) n.2577T>A | |
20 | g.3228962T>A | CA408087088 | SLC4A11 | c.2068A>T (p.Ile690Phe) c.1999A>T (p.Ile667Phe) c.1939A>T (p.Ile647Phe) c.1954A>T (p.Ile652Phe) c.2116A>T (p.Ile706Phe) c.2197A>T (p.Ile733Phe) c.*216A>T (n.*216A>T) n.661A>T c.2437A>T (p.Ile813Phe) c.2011A>T (p.Ile671Phe) c.2035A>T (p.Ile679Phe) n.2166A>T c.2431A>T (p.Ile811Phe) n.2611A>T n.2591A>T c.2083A>T (p.Ile695Phe) n.2576A>T | |
20 | g.3228962T>C | CA408087089 | SLC4A11 | c.2068A>G (p.Ile690Val) c.1999A>G (p.Ile667Val) c.1939A>G (p.Ile647Val) c.1954A>G (p.Ile652Val) c.2116A>G (p.Ile706Val) c.2197A>G (p.Ile733Val) c.*216A>G (n.*216A>G) n.661A>G c.2437A>G (p.Ile813Val) c.2011A>G (p.Ile671Val) c.2035A>G (p.Ile679Val) n.2166A>G c.2431A>G (p.Ile811Val) n.2611A>G n.2591A>G c.2083A>G (p.Ile695Val) n.2576A>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.3228962T>G | CA408087090 | SLC4A11 | c.2068A>C (p.Ile690Leu) c.1999A>C (p.Ile667Leu) c.1939A>C (p.Ile647Leu) c.1954A>C (p.Ile652Leu) c.2116A>C (p.Ile706Leu) c.2197A>C (p.Ile733Leu) c.*216A>C (n.*216A>C) n.661A>C c.2437A>C (p.Ile813Leu) c.2011A>C (p.Ile671Leu) c.2035A>C (p.Ile679Leu) n.2166A>C c.2431A>C (p.Ile811Leu) n.2611A>C n.2591A>C c.2083A>C (p.Ile695Leu) n.2576A>C | |
20 | g.3228962T= | CA2346475256 | SLC4A11 | c.2068A= (p.Ile690=) c.1999A= (p.Ile667=) c.1939A= (p.Ile647=) c.1954A= (p.Ile652=) c.2116A= (p.Ile706=) c.2197A= (p.Ile733=) c.*216A= (n.*216A=) n.661A= c.2437A= (p.Ile813=) c.2011A= (p.Ile671=) c.2035A= (p.Ile679=) n.2166A= c.2431A= (p.Ile811=) n.2611A= n.2591A= c.2083A= (p.Ile695=) n.2576A= | |
20 | g.3228963G>A | CA310985950 | SLC4A11 | c.2067C>T (p.Ile689=) c.1998C>T (p.Ile666=) c.1938C>T (p.Ile646=) c.1953C>T (p.Ile651=) c.2115C>T (p.Ile705=) c.2196C>T (p.Ile732=) c.*215C>T (n.*215C>T) n.660C>T c.2436C>T (p.Ile812=) c.2010C>T (p.Ile670=) c.2034C>T (p.Ile678=) n.2165C>T c.2430C>T (p.Ile810=) n.2610C>T n.2590C>T c.2082C>T (p.Ile694=) n.2575C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228963G>C | CA408087091 | SLC4A11 | c.2067C>G (p.Ile689Met) c.1998C>G (p.Ile666Met) c.1938C>G (p.Ile646Met) c.1953C>G (p.Ile651Met) c.2115C>G (p.Ile705Met) c.2196C>G (p.Ile732Met) c.*215C>G (n.*215C>G) n.660C>G c.2436C>G (p.Ile812Met) c.2010C>G (p.Ile670Met) c.2034C>G (p.Ile678Met) n.2165C>G c.2430C>G (p.Ile810Met) n.2610C>G n.2590C>G c.2082C>G (p.Ile694Met) n.2575C>G | |
20 | g.3228963G= | CA2346475257 | SLC4A11 | c.2067C= (p.Ile689=) c.1998C= (p.Ile666=) c.1938C= (p.Ile646=) c.1953C= (p.Ile651=) c.2115C= (p.Ile705=) c.2196C= (p.Ile732=) c.*215C= (n.*215C=) n.660C= c.2436C= (p.Ile812=) c.2010C= (p.Ile670=) c.2034C= (p.Ile678=) n.2165C= c.2430C= (p.Ile810=) n.2610C= n.2590C= c.2082C= (p.Ile694=) n.2575C= | |
20 | g.3228963G>T | CA509558196 | SLC4A11 | c.2067C>A (p.Ile689=) c.1998C>A (p.Ile666=) c.1938C>A (p.Ile646=) c.1953C>A (p.Ile651=) c.2115C>A (p.Ile705=) c.2196C>A (p.Ile732=) c.*215C>A (n.*215C>A) n.660C>A c.2436C>A (p.Ile812=) c.2010C>A (p.Ile670=) c.2034C>A (p.Ile678=) n.2165C>A c.2430C>A (p.Ile810=) n.2610C>A n.2590C>A c.2082C>A (p.Ile694=) n.2575C>A |