Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.3228350G>ACA408085024SLC4A11c.2467C>T (p.Gln823Ter)
c.2398C>T (p.Gln800Ter)
c.2266C>T (p.Gln756Ter)
c.2353C>T (p.Gln785Ter)
c.2515C>T (p.Gln839Ter)
c.2596C>T (p.Gln866Ter)
c.*615C>T (n.*615C>T)
c.2836C>T (p.Gln946Ter)
c.2410C>T (p.Gln804Ter)
c.2434C>T (p.Gln812Ter)
n.2565C>T
c.2830C>T (p.Gln944Ter)
n.3010C>T
n.2990C>T
c.2482C>T (p.Gln828Ter)
n.2975C>T
 gnomAD v4
20g.3228350G>CCA408085030SLC4A11c.2467C>G (p.Gln823Glu)
c.2398C>G (p.Gln800Glu)
c.2266C>G (p.Gln756Glu)
c.2353C>G (p.Gln785Glu)
c.2515C>G (p.Gln839Glu)
c.2596C>G (p.Gln866Glu)
c.*615C>G (n.*615C>G)
c.2836C>G (p.Gln946Glu)
c.2410C>G (p.Gln804Glu)
c.2434C>G (p.Gln812Glu)
n.2565C>G
c.2830C>G (p.Gln944Glu)
n.3010C>G
n.2990C>G
c.2482C>G (p.Gln828Glu)
n.2975C>G
20g.3228350G>TCA408085026SLC4A11c.2467C>A (p.Gln823Lys)
c.2398C>A (p.Gln800Lys)
c.2266C>A (p.Gln756Lys)
c.2353C>A (p.Gln785Lys)
c.2515C>A (p.Gln839Lys)
c.2596C>A (p.Gln866Lys)
c.*615C>A (n.*615C>A)
c.2836C>A (p.Gln946Lys)
c.2410C>A (p.Gln804Lys)
c.2434C>A (p.Gln812Lys)
n.2565C>A
c.2830C>A (p.Gln944Lys)
n.3010C>A
n.2990C>A
c.2482C>A (p.Gln828Lys)
n.2975C>A
20g.3228351A=CA2346474952SLC4A11c.2466T= (p.Leu822=)
c.2397T= (p.Leu799=)
c.2265T= (p.Leu755=)
c.2352T= (p.Leu784=)
c.2514T= (p.Leu838=)
c.2595T= (p.Leu865=)
c.*614T= (n.*614T=)
c.2835T= (p.Leu945=)
c.2409T= (p.Leu803=)
c.2433T= (p.Leu811=)
n.2564T=
c.2829T= (p.Leu943=)
n.3009T=
n.2989T=
c.2481T= (p.Leu827=)
n.2974T=
20g.3228351A>CCA509557661SLC4A11c.2466T>G (p.Leu822=)
c.2397T>G (p.Leu799=)
c.2265T>G (p.Leu755=)
c.2352T>G (p.Leu784=)
c.2514T>G (p.Leu838=)
c.2595T>G (p.Leu865=)
c.*614T>G (n.*614T>G)
c.2835T>G (p.Leu945=)
c.2409T>G (p.Leu803=)
c.2433T>G (p.Leu811=)
n.2564T>G
c.2829T>G (p.Leu943=)
n.3009T>G
n.2989T>G
c.2481T>G (p.Leu827=)
n.2974T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228351A>GCA509557663SLC4A11c.2466T>C (p.Leu822=)
c.2397T>C (p.Leu799=)
c.2265T>C (p.Leu755=)
c.2352T>C (p.Leu784=)
c.2514T>C (p.Leu838=)
c.2595T>C (p.Leu865=)
c.*614T>C (n.*614T>C)
c.2835T>C (p.Leu945=)
c.2409T>C (p.Leu803=)
c.2433T>C (p.Leu811=)
n.2564T>C
c.2829T>C (p.Leu943=)
n.3009T>C
n.2989T>C
c.2481T>C (p.Leu827=)
n.2974T>C
20g.3228351A>TCA509557662SLC4A11c.2466T>A (p.Leu822=)
c.2397T>A (p.Leu799=)
c.2265T>A (p.Leu755=)
c.2352T>A (p.Leu784=)
c.2514T>A (p.Leu838=)
c.2595T>A (p.Leu865=)
c.*614T>A (n.*614T>A)
c.2835T>A (p.Leu945=)
c.2409T>A (p.Leu803=)
c.2433T>A (p.Leu811=)
n.2564T>A
c.2829T>A (p.Leu943=)
n.3009T>A
n.2989T>A
c.2481T>A (p.Leu827=)
n.2974T>A
20g.3228352A>CCA408085032SLC4A11c.2465T>G (p.Leu822Arg)
c.2396T>G (p.Leu799Arg)
c.2264T>G (p.Leu755Arg)
c.2351T>G (p.Leu784Arg)
c.2513T>G (p.Leu838Arg)
c.2594T>G (p.Leu865Arg)
c.*613T>G (n.*613T>G)
c.2834T>G (p.Leu945Arg)
c.2408T>G (p.Leu803Arg)
c.2432T>G (p.Leu811Arg)
n.2563T>G
c.2828T>G (p.Leu943Arg)
n.3008T>G
n.2988T>G
c.2480T>G (p.Leu827Arg)
n.2973T>G
20g.3228352A>GCA408085033SLC4A11c.2465T>C (p.Leu822Pro)
c.2396T>C (p.Leu799Pro)
c.2264T>C (p.Leu755Pro)
c.2351T>C (p.Leu784Pro)
c.2513T>C (p.Leu838Pro)
c.2594T>C (p.Leu865Pro)
c.*613T>C (n.*613T>C)
c.2834T>C (p.Leu945Pro)
c.2408T>C (p.Leu803Pro)
c.2432T>C (p.Leu811Pro)
n.2563T>C
c.2828T>C (p.Leu943Pro)
n.3008T>C
n.2988T>C
c.2480T>C (p.Leu827Pro)
n.2973T>C
20g.3228352A>TCA408085035SLC4A11c.2465T>A (p.Leu822His)
c.2396T>A (p.Leu799His)
c.2264T>A (p.Leu755His)
c.2351T>A (p.Leu784His)
c.2513T>A (p.Leu838His)
c.2594T>A (p.Leu865His)
c.*613T>A (n.*613T>A)
c.2834T>A (p.Leu945His)
c.2408T>A (p.Leu803His)
c.2432T>A (p.Leu811His)
n.2563T>A
c.2828T>A (p.Leu943His)
n.3008T>A
n.2988T>A
c.2480T>A (p.Leu827His)
n.2973T>A
20g.3228353G>ACA408085038SLC4A11c.2464C>T (p.Leu822Phe)
c.2395C>T (p.Leu799Phe)
c.2263C>T (p.Leu755Phe)
c.2350C>T (p.Leu784Phe)
c.2512C>T (p.Leu838Phe)
c.2593C>T (p.Leu865Phe)
c.*612C>T (n.*612C>T)
c.2833C>T (p.Leu945Phe)
c.2407C>T (p.Leu803Phe)
c.2431C>T (p.Leu811Phe)
n.2562C>T
c.2827C>T (p.Leu943Phe)
n.3007C>T
n.2987C>T
c.2479C>T (p.Leu827Phe)
n.2972C>T
20g.3228353G>CCA408085039SLC4A11c.2464C>G (p.Leu822Val)
c.2395C>G (p.Leu799Val)
c.2263C>G (p.Leu755Val)
c.2350C>G (p.Leu784Val)
c.2512C>G (p.Leu838Val)
c.2593C>G (p.Leu865Val)
c.*612C>G (n.*612C>G)
c.2833C>G (p.Leu945Val)
c.2407C>G (p.Leu803Val)
c.2431C>G (p.Leu811Val)
n.2562C>G
c.2827C>G (p.Leu943Val)
n.3007C>G
n.2987C>G
c.2479C>G (p.Leu827Val)
n.2972C>G
20g.3228353G>TCA408085041SLC4A11c.2464C>A (p.Leu822Ile)
c.2395C>A (p.Leu799Ile)
c.2263C>A (p.Leu755Ile)
c.2350C>A (p.Leu784Ile)
c.2512C>A (p.Leu838Ile)
c.2593C>A (p.Leu865Ile)
c.*612C>A (n.*612C>A)
c.2833C>A (p.Leu945Ile)
c.2407C>A (p.Leu803Ile)
c.2431C>A (p.Leu811Ile)
n.2562C>A
c.2827C>A (p.Leu943Ile)
n.3007C>A
n.2987C>A
c.2479C>A (p.Leu827Ile)
n.2972C>A
20g.3228354C>ACA509557664SLC4A11c.2463G>T (p.Val821=)
c.2394G>T (p.Val798=)
c.2262G>T (p.Val754=)
c.2349G>T (p.Val783=)
c.2511G>T (p.Val837=)
c.2592G>T (p.Val864=)
c.*611G>T (n.*611G>T)
c.2832G>T (p.Val944=)
c.2406G>T (p.Val802=)
c.2430G>T (p.Val810=)
n.2561G>T
c.2826G>T (p.Val942=)
n.3006G>T
n.2986G>T
c.2478G>T (p.Val826=)
n.2971G>T
20g.3228354C=CA2346474953SLC4A11c.2463G= (p.Val821=)
c.2394G= (p.Val798=)
c.2262G= (p.Val754=)
c.2349G= (p.Val783=)
c.2511G= (p.Val837=)
c.2592G= (p.Val864=)
c.*611G= (n.*611G=)
c.2832G= (p.Val944=)
c.2406G= (p.Val802=)
c.2430G= (p.Val810=)
n.2561G=
c.2826G= (p.Val942=)
n.3006G=
n.2986G=
c.2478G= (p.Val826=)
n.2971G=
20g.3228354C>GCA509557665SLC4A11c.2463G>C (p.Val821=)
c.2394G>C (p.Val798=)
c.2262G>C (p.Val754=)
c.2349G>C (p.Val783=)
c.2511G>C (p.Val837=)
c.2592G>C (p.Val864=)
c.*611G>C (n.*611G>C)
c.2832G>C (p.Val944=)
c.2406G>C (p.Val802=)
c.2430G>C (p.Val810=)
n.2561G>C
c.2826G>C (p.Val942=)
n.3006G>C
n.2986G>C
c.2478G>C (p.Val826=)
n.2971G>C
20g.3228354C>TCA9741454SLC4A11c.2463G>A (p.Val821=)
c.2394G>A (p.Val798=)
c.2262G>A (p.Val754=)
c.2349G>A (p.Val783=)
c.2511G>A (p.Val837=)
c.2592G>A (p.Val864=)
c.*611G>A (n.*611G>A)
c.2832G>A (p.Val944=)
c.2406G>A (p.Val802=)
c.2430G>A (p.Val810=)
n.2561G>A
c.2826G>A (p.Val942=)
n.3006G>A
n.2986G>A
c.2478G>A (p.Val826=)
n.2971G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228355A>CCA408085044SLC4A11c.2462T>G (p.Val821Gly)
c.2393T>G (p.Val798Gly)
c.2261T>G (p.Val754Gly)
c.2348T>G (p.Val783Gly)
c.2510T>G (p.Val837Gly)
c.2591T>G (p.Val864Gly)
c.*610T>G (n.*610T>G)
c.2831T>G (p.Val944Gly)
c.2405T>G (p.Val802Gly)
c.2429T>G (p.Val810Gly)
n.2560T>G
c.2825T>G (p.Val942Gly)
n.3005T>G
n.2985T>G
c.2477T>G (p.Val826Gly)
n.2970T>G
20g.3228355A>GCA408085045SLC4A11c.2462T>C (p.Val821Ala)
c.2393T>C (p.Val798Ala)
c.2261T>C (p.Val754Ala)
c.2348T>C (p.Val783Ala)
c.2510T>C (p.Val837Ala)
c.2591T>C (p.Val864Ala)
c.*610T>C (n.*610T>C)
c.2831T>C (p.Val944Ala)
c.2405T>C (p.Val802Ala)
c.2429T>C (p.Val810Ala)
n.2560T>C
c.2825T>C (p.Val942Ala)
n.3005T>C
n.2985T>C
c.2477T>C (p.Val826Ala)
n.2970T>C
20g.3228355A>TCA408085046SLC4A11c.2462T>A (p.Val821Glu)
c.2393T>A (p.Val798Glu)
c.2261T>A (p.Val754Glu)
c.2348T>A (p.Val783Glu)
c.2510T>A (p.Val837Glu)
c.2591T>A (p.Val864Glu)
c.*610T>A (n.*610T>A)
c.2831T>A (p.Val944Glu)
c.2405T>A (p.Val802Glu)
c.2429T>A (p.Val810Glu)
n.2560T>A
c.2825T>A (p.Val942Glu)
n.3005T>A
n.2985T>A
c.2477T>A (p.Val826Glu)
n.2970T>A
20g.3228356C>ACA408085050SLC4A11c.2461G>T (p.Val821Leu)
c.2392G>T (p.Val798Leu)
c.2260G>T (p.Val754Leu)
c.2347G>T (p.Val783Leu)
c.2509G>T (p.Val837Leu)
c.2590G>T (p.Val864Leu)
c.*609G>T (n.*609G>T)
c.2830G>T (p.Val944Leu)
c.2404G>T (p.Val802Leu)
c.2428G>T (p.Val810Leu)
n.2559G>T
c.2824G>T (p.Val942Leu)
n.3004G>T
n.2984G>T
c.2476G>T (p.Val826Leu)
n.2969G>T
20g.3228356C>GCA408085052SLC4A11c.2461G>C (p.Val821Leu)
c.2392G>C (p.Val798Leu)
c.2260G>C (p.Val754Leu)
c.2347G>C (p.Val783Leu)
c.2509G>C (p.Val837Leu)
c.2590G>C (p.Val864Leu)
c.*609G>C (n.*609G>C)
c.2830G>C (p.Val944Leu)
c.2404G>C (p.Val802Leu)
c.2428G>C (p.Val810Leu)
n.2559G>C
c.2824G>C (p.Val942Leu)
n.3004G>C
n.2984G>C
c.2476G>C (p.Val826Leu)
n.2969G>C
20g.3228356C>TCA408085048SLC4A11c.2461G>A (p.Val821Met)
c.2392G>A (p.Val798Met)
c.2260G>A (p.Val754Met)
c.2347G>A (p.Val783Met)
c.2509G>A (p.Val837Met)
c.2590G>A (p.Val864Met)
c.*609G>A (n.*609G>A)
c.2830G>A (p.Val944Met)
c.2404G>A (p.Val802Met)
c.2428G>A (p.Val810Met)
n.2559G>A
c.2824G>A (p.Val942Met)
n.3004G>A
n.2984G>A
c.2476G>A (p.Val826Met)
n.2969G>A
20g.3228357C>ACA408085055SLC4A11c.2460G>T (p.Gln820His)
c.2391G>T (p.Gln797His)
c.2260-1G>T (n.2260-1G>T)
c.2346G>T (p.Gln782His)
c.2508G>T (p.Gln836His)
c.2589G>T (p.Gln863His)
c.*608G>T (n.*608G>T)
c.2829G>T (p.Gln943His)
c.2403G>T (p.Gln801His)
c.2427G>T (p.Gln809His)
n.2558G>T
c.2823G>T (p.Gln941His)
n.3003G>T
n.2983G>T
c.2475G>T (p.Gln825His)
n.2968G>T
 dbSNP gnomAD v3 gnomAD v4
20g.3228357C=CA2346474954SLC4A11c.2460G= (p.Gln820=)
c.2391G= (p.Gln797=)
c.2260-1G= (n.2260-1G=)
c.2346G= (p.Gln782=)
c.2508G= (p.Gln836=)
c.2589G= (p.Gln863=)
c.*608G= (n.*608G=)
c.2829G= (p.Gln943=)
c.2403G= (p.Gln801=)
c.2427G= (p.Gln809=)
n.2558G=
c.2823G= (p.Gln941=)
n.3003G=
n.2983G=
c.2475G= (p.Gln825=)
n.2968G=
20g.3228357C>GCA408085053SLC4A11c.2460G>C (p.Gln820His)
c.2391G>C (p.Gln797His)
c.2260-1G>C (n.2260-1G>C)
c.2346G>C (p.Gln782His)
c.2508G>C (p.Gln836His)
c.2589G>C (p.Gln863His)
c.*608G>C (n.*608G>C)
c.2829G>C (p.Gln943His)
c.2403G>C (p.Gln801His)
c.2427G>C (p.Gln809His)
n.2558G>C
c.2823G>C (p.Gln941His)
n.3003G>C
n.2983G>C
c.2475G>C (p.Gln825His)
n.2968G>C
 gnomAD v4
20g.3228357C>TCA509557666SLC4A11c.2460G>A (p.Gln820=)
c.2391G>A (p.Gln797=)
c.2260-1G>A (n.2260-1G>A)
c.2346G>A (p.Gln782=)
c.2508G>A (p.Gln836=)
c.2589G>A (p.Gln863=)
c.*608G>A (n.*608G>A)
c.2829G>A (p.Gln943=)
c.2403G>A (p.Gln801=)
c.2427G>A (p.Gln809=)
n.2558G>A
c.2823G>A (p.Gln941=)
n.3003G>A
n.2983G>A
c.2475G>A (p.Gln825=)
n.2968G>A
20g.3228358T>ACA408085058SLC4A11c.2459A>T (p.Gln820Leu)
c.2390A>T (p.Gln797Leu)
c.2260-2A>T (n.2260-2A>T)
c.2345A>T (p.Gln782Leu)
c.2507A>T (p.Gln836Leu)
c.2588A>T (p.Gln863Leu)
c.*607A>T (n.*607A>T)
c.2828A>T (p.Gln943Leu)
c.2402A>T (p.Gln801Leu)
c.2426A>T (p.Gln809Leu)
n.2557A>T
c.2822A>T (p.Gln941Leu)
n.3002A>T
n.2982A>T
c.2474A>T (p.Gln825Leu)
n.2967A>T
20g.3228358T>CCA408085059SLC4A11c.2459A>G (p.Gln820Arg)
c.2390A>G (p.Gln797Arg)
c.2260-2A>G (n.2260-2A>G)
c.2345A>G (p.Gln782Arg)
c.2507A>G (p.Gln836Arg)
c.2588A>G (p.Gln863Arg)
c.*607A>G (n.*607A>G)
c.2828A>G (p.Gln943Arg)
c.2402A>G (p.Gln801Arg)
c.2426A>G (p.Gln809Arg)
n.2557A>G
c.2822A>G (p.Gln941Arg)
n.3002A>G
n.2982A>G
c.2474A>G (p.Gln825Arg)
n.2967A>G
 dbSNP
20g.3228358T>GCA408085061SLC4A11c.2459A>C (p.Gln820Pro)
c.2390A>C (p.Gln797Pro)
c.2260-2A>C (n.2260-2A>C)
c.2345A>C (p.Gln782Pro)
c.2507A>C (p.Gln836Pro)
c.2588A>C (p.Gln863Pro)
c.*607A>C (n.*607A>C)
c.2828A>C (p.Gln943Pro)
c.2402A>C (p.Gln801Pro)
c.2426A>C (p.Gln809Pro)
n.2557A>C
c.2822A>C (p.Gln941Pro)
n.3002A>C
n.2982A>C
c.2474A>C (p.Gln825Pro)
n.2967A>C
 gnomAD v4
20g.3228358T=CA2346474955SLC4A11c.2459A= (p.Gln820=)
c.2390A= (p.Gln797=)
c.2260-2A= (n.2260-2A=)
c.2345A= (p.Gln782=)
c.2507A= (p.Gln836=)
c.2588A= (p.Gln863=)
c.*607A= (n.*607A=)
c.2828A= (p.Gln943=)
c.2402A= (p.Gln801=)
c.2426A= (p.Gln809=)
n.2557A=
c.2822A= (p.Gln941=)
n.3002A=
n.2982A=
c.2474A= (p.Gln825=)
n.2967A=
20g.3228359G>ACA408085063SLC4A11c.2458C>T (p.Gln820Ter)
c.2389C>T (p.Gln797Ter)
c.2260-3C>T (n.2260-3C>T)
c.2344C>T (p.Gln782Ter)
c.2506C>T (p.Gln836Ter)
c.2587C>T (p.Gln863Ter)
c.*606C>T (n.*606C>T)
c.2827C>T (p.Gln943Ter)
c.2401C>T (p.Gln801Ter)
c.2425C>T (p.Gln809Ter)
n.2556C>T
c.2821C>T (p.Gln941Ter)
n.3001C>T
n.2981C>T
c.2473C>T (p.Gln825Ter)
n.2966C>T
20g.3228359G>CCA408085064SLC4A11c.2458C>G (p.Gln820Glu)
c.2389C>G (p.Gln797Glu)
c.2260-3C>G (n.2260-3C>G)
c.2344C>G (p.Gln782Glu)
c.2506C>G (p.Gln836Glu)
c.2587C>G (p.Gln863Glu)
c.*606C>G (n.*606C>G)
c.2827C>G (p.Gln943Glu)
c.2401C>G (p.Gln801Glu)
c.2425C>G (p.Gln809Glu)
n.2556C>G
c.2821C>G (p.Gln941Glu)
n.3001C>G
n.2981C>G
c.2473C>G (p.Gln825Glu)
n.2966C>G
20g.3228359G>TCA408085066SLC4A11c.2458C>A (p.Gln820Lys)
c.2389C>A (p.Gln797Lys)
c.2260-3C>A (n.2260-3C>A)
c.2344C>A (p.Gln782Lys)
c.2506C>A (p.Gln836Lys)
c.2587C>A (p.Gln863Lys)
c.*606C>A (n.*606C>A)
c.2827C>A (p.Gln943Lys)
c.2401C>A (p.Gln801Lys)
c.2425C>A (p.Gln809Lys)
n.2556C>A
c.2821C>A (p.Gln941Lys)
n.3001C>A
n.2981C>A
c.2473C>A (p.Gln825Lys)
n.2966C>A
20g.3228360C>ACA509557667SLC4A11c.2457G>T (p.Leu819=)
c.2388G>T (p.Leu796=)
c.2260-4G>T (n.2260-4G>T)
c.2343G>T (p.Leu781=)
c.2505G>T (p.Leu835=)
c.2586G>T (p.Leu862=)
c.*605G>T (n.*605G>T)
c.2826G>T (p.Leu942=)
c.2400G>T (p.Leu800=)
c.2424G>T (p.Leu808=)
n.2555G>T
c.2820G>T (p.Leu940=)
n.3000G>T
n.2980G>T
c.2472G>T (p.Leu824=)
n.2965G>T
20g.3228360C>GCA509557668SLC4A11c.2457G>C (p.Leu819=)
c.2388G>C (p.Leu796=)
c.2260-4G>C (n.2260-4G>C)
c.2343G>C (p.Leu781=)
c.2505G>C (p.Leu835=)
c.2586G>C (p.Leu862=)
c.*605G>C (n.*605G>C)
c.2826G>C (p.Leu942=)
c.2400G>C (p.Leu800=)
c.2424G>C (p.Leu808=)
n.2555G>C
c.2820G>C (p.Leu940=)
n.3000G>C
n.2980G>C
c.2472G>C (p.Leu824=)
n.2965G>C
20g.3228360C>TCA509557669SLC4A11c.2457G>A (p.Leu819=)
c.2388G>A (p.Leu796=)
c.2260-4G>A (n.2260-4G>A)
c.2343G>A (p.Leu781=)
c.2505G>A (p.Leu835=)
c.2586G>A (p.Leu862=)
c.*605G>A (n.*605G>A)
c.2826G>A (p.Leu942=)
c.2400G>A (p.Leu800=)
c.2424G>A (p.Leu808=)
n.2555G>A
c.2820G>A (p.Leu940=)
n.3000G>A
n.2980G>A
c.2472G>A (p.Leu824=)
n.2965G>A
20g.3228361A>CCA408085069SLC4A11c.2456T>G (p.Leu819Arg)
c.2387T>G (p.Leu796Arg)
c.2260-5T>G (n.2260-5T>G)
c.2342T>G (p.Leu781Arg)
c.2504T>G (p.Leu835Arg)
c.2585T>G (p.Leu862Arg)
c.*604T>G (n.*604T>G)
c.2825T>G (p.Leu942Arg)
c.2399T>G (p.Leu800Arg)
c.2423T>G (p.Leu808Arg)
n.2554T>G
c.2819T>G (p.Leu940Arg)
n.2999T>G
n.2979T>G
c.2471T>G (p.Leu824Arg)
n.2964T>G
20g.3228361A>GCA408085071SLC4A11c.2456T>C (p.Leu819Pro)
c.2387T>C (p.Leu796Pro)
c.2260-5T>C (n.2260-5T>C)
c.2342T>C (p.Leu781Pro)
c.2504T>C (p.Leu835Pro)
c.2585T>C (p.Leu862Pro)
c.*604T>C (n.*604T>C)
c.2825T>C (p.Leu942Pro)
c.2399T>C (p.Leu800Pro)
c.2423T>C (p.Leu808Pro)
n.2554T>C
c.2819T>C (p.Leu940Pro)
n.2999T>C
n.2979T>C
c.2471T>C (p.Leu824Pro)
n.2964T>C
20g.3228361A>TCA408085073SLC4A11c.2456T>A (p.Leu819Gln)
c.2387T>A (p.Leu796Gln)
c.2260-5T>A (n.2260-5T>A)
c.2342T>A (p.Leu781Gln)
c.2504T>A (p.Leu835Gln)
c.2585T>A (p.Leu862Gln)
c.*604T>A (n.*604T>A)
c.2825T>A (p.Leu942Gln)
c.2399T>A (p.Leu800Gln)
c.2423T>A (p.Leu808Gln)
n.2554T>A
c.2819T>A (p.Leu940Gln)
n.2999T>A
n.2979T>A
c.2471T>A (p.Leu824Gln)
n.2964T>A
20g.3228362G>ACA509557670SLC4A11c.2455C>T (p.Leu819=)
c.2386C>T (p.Leu796=)
c.2260-6C>T (n.2260-6C>T)
c.2341C>T (p.Leu781=)
c.2503C>T (p.Leu835=)
c.2584C>T (p.Leu862=)
c.*603C>T (n.*603C>T)
c.2824C>T (p.Leu942=)
c.2398C>T (p.Leu800=)
c.2422C>T (p.Leu808=)
n.2553C>T
c.2818C>T (p.Leu940=)
n.2998C>T
n.2978C>T
c.2470C>T (p.Leu824=)
n.2963C>T
 gnomAD v4
20g.3228362G>CCA408085075SLC4A11c.2455C>G (p.Leu819Val)
c.2386C>G (p.Leu796Val)
c.2260-6C>G (n.2260-6C>G)
c.2341C>G (p.Leu781Val)
c.2503C>G (p.Leu835Val)
c.2584C>G (p.Leu862Val)
c.*603C>G (n.*603C>G)
c.2824C>G (p.Leu942Val)
c.2398C>G (p.Leu800Val)
c.2422C>G (p.Leu808Val)
n.2553C>G
c.2818C>G (p.Leu940Val)
n.2998C>G
n.2978C>G
c.2470C>G (p.Leu824Val)
n.2963C>G
20g.3228362G>TCA408085077SLC4A11c.2455C>A (p.Leu819Met)
c.2386C>A (p.Leu796Met)
c.2260-6C>A (n.2260-6C>A)
c.2341C>A (p.Leu781Met)
c.2503C>A (p.Leu835Met)
c.2584C>A (p.Leu862Met)
c.*603C>A (n.*603C>A)
c.2824C>A (p.Leu942Met)
c.2398C>A (p.Leu800Met)
c.2422C>A (p.Leu808Met)
n.2553C>A
c.2818C>A (p.Leu940Met)
n.2998C>A
n.2978C>A
c.2470C>A (p.Leu824Met)
n.2963C>A
20g.3228363G>ACA509557671SLC4A11c.2454C>T (p.Gly818=)
c.2385C>T (p.Gly795=)
c.2260-7C>T (n.2260-7C>T)
c.2340C>T (p.Gly780=)
c.2502C>T (p.Gly834=)
c.2583C>T (p.Gly861=)
c.*602C>T (n.*602C>T)
c.2823C>T (p.Gly941=)
c.2397C>T (p.Gly799=)
c.2421C>T (p.Gly807=)
n.2552C>T
c.2817C>T (p.Gly939=)
n.2997C>T
n.2977C>T
c.2469C>T (p.Gly823=)
n.2962C>T
 dbSNP gnomAD v4
20g.3228363G>CCA509557672SLC4A11c.2454C>G (p.Gly818=)
c.2385C>G (p.Gly795=)
c.2260-7C>G (n.2260-7C>G)
c.2340C>G (p.Gly780=)
c.2502C>G (p.Gly834=)
c.2583C>G (p.Gly861=)
c.*602C>G (n.*602C>G)
c.2823C>G (p.Gly941=)
c.2397C>G (p.Gly799=)
c.2421C>G (p.Gly807=)
n.2552C>G
c.2817C>G (p.Gly939=)
n.2997C>G
n.2977C>G
c.2469C>G (p.Gly823=)
n.2962C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.3228363G=CA2346474956SLC4A11c.2454C= (p.Gly818=)
c.2385C= (p.Gly795=)
c.2260-7C= (n.2260-7C=)
c.2340C= (p.Gly780=)
c.2502C= (p.Gly834=)
c.2583C= (p.Gly861=)
c.*602C= (n.*602C=)
c.2823C= (p.Gly941=)
c.2397C= (p.Gly799=)
c.2421C= (p.Gly807=)
n.2552C=
c.2817C= (p.Gly939=)
n.2997C=
n.2977C=
c.2469C= (p.Gly823=)
n.2962C=
20g.3228363G>TCA509557673SLC4A11c.2454C>A (p.Gly818=)
c.2385C>A (p.Gly795=)
c.2260-7C>A (n.2260-7C>A)
c.2340C>A (p.Gly780=)
c.2502C>A (p.Gly834=)
c.2583C>A (p.Gly861=)
c.*602C>A (n.*602C>A)
c.2823C>A (p.Gly941=)
c.2397C>A (p.Gly799=)
c.2421C>A (p.Gly807=)
n.2552C>A
c.2817C>A (p.Gly939=)
n.2997C>A
n.2977C>A
c.2469C>A (p.Gly823=)
n.2962C>A
20g.3228364C>ACA408085084SLC4A11c.2453G>T (p.Gly818Val)
c.2384G>T (p.Gly795Val)
c.2260-8G>T (n.2260-8G>T)
c.2339G>T (p.Gly780Val)
c.2501G>T (p.Gly834Val)
c.2582G>T (p.Gly861Val)
c.*601G>T (n.*601G>T)
c.2822G>T (p.Gly941Val)
c.2396G>T (p.Gly799Val)
c.2420G>T (p.Gly807Val)
n.2551G>T
c.2816G>T (p.Gly939Val)
n.2996G>T
n.2976G>T
c.2468G>T (p.Gly823Val)
n.2961G>T
20g.3228364C>GCA408085080SLC4A11c.2453G>C (p.Gly818Ala)
c.2384G>C (p.Gly795Ala)
c.2260-8G>C (n.2260-8G>C)
c.2339G>C (p.Gly780Ala)
c.2501G>C (p.Gly834Ala)
c.2582G>C (p.Gly861Ala)
c.*601G>C (n.*601G>C)
c.2822G>C (p.Gly941Ala)
c.2396G>C (p.Gly799Ala)
c.2420G>C (p.Gly807Ala)
n.2551G>C
c.2816G>C (p.Gly939Ala)
n.2996G>C
n.2976G>C
c.2468G>C (p.Gly823Ala)
n.2961G>C
20g.3228364C>TCA408085082SLC4A11c.2453G>A (p.Gly818Asp)
c.2384G>A (p.Gly795Asp)
c.2260-8G>A (n.2260-8G>A)
c.2339G>A (p.Gly780Asp)
c.2501G>A (p.Gly834Asp)
c.2582G>A (p.Gly861Asp)
c.*601G>A (n.*601G>A)
c.2822G>A (p.Gly941Asp)
c.2396G>A (p.Gly799Asp)
c.2420G>A (p.Gly807Asp)
n.2551G>A
c.2816G>A (p.Gly939Asp)
n.2996G>A
n.2976G>A
c.2468G>A (p.Gly823Asp)
n.2961G>A
20g.3228365C>ACA408085087SLC4A11c.2452G>T (p.Gly818Cys)
c.2383G>T (p.Gly795Cys)
c.2260-9G>T (n.2260-9G>T)
c.2338G>T (p.Gly780Cys)
c.2500G>T (p.Gly834Cys)
c.2581G>T (p.Gly861Cys)
c.*600G>T (n.*600G>T)
c.2821G>T (p.Gly941Cys)
c.2395G>T (p.Gly799Cys)
c.2419G>T (p.Gly807Cys)
n.2550G>T
c.2815G>T (p.Gly939Cys)
n.2995G>T
n.2975G>T
c.2467G>T (p.Gly823Cys)
n.2960G>T
20g.3228365C=CA2346474957SLC4A11c.2452G= (p.Gly818=)
c.2383G= (p.Gly795=)
c.2260-9G= (n.2260-9G=)
c.2338G= (p.Gly780=)
c.2500G= (p.Gly834=)
c.2581G= (p.Gly861=)
c.*600G= (n.*600G=)
c.2821G= (p.Gly941=)
c.2395G= (p.Gly799=)
c.2419G= (p.Gly807=)
n.2550G=
c.2815G= (p.Gly939=)
n.2995G=
n.2975G=
c.2467G= (p.Gly823=)
n.2960G=
20g.3228365C>GCA408085089SLC4A11c.2452G>C (p.Gly818Arg)
c.2383G>C (p.Gly795Arg)
c.2260-9G>C (n.2260-9G>C)
c.2338G>C (p.Gly780Arg)
c.2500G>C (p.Gly834Arg)
c.2581G>C (p.Gly861Arg)
c.*600G>C (n.*600G>C)
c.2821G>C (p.Gly941Arg)
c.2395G>C (p.Gly799Arg)
c.2419G>C (p.Gly807Arg)
n.2550G>C
c.2815G>C (p.Gly939Arg)
n.2995G>C
n.2975G>C
c.2467G>C (p.Gly823Arg)
n.2960G>C
20g.3228365C>TCA9741455SLC4A11c.2452G>A (p.Gly818Ser)
c.2383G>A (p.Gly795Ser)
c.2260-9G>A (n.2260-9G>A)
c.2338G>A (p.Gly780Ser)
c.2500G>A (p.Gly834Ser)
c.2581G>A (p.Gly861Ser)
c.*600G>A (n.*600G>A)
c.2821G>A (p.Gly941Ser)
c.2395G>A (p.Gly799Ser)
c.2419G>A (p.Gly807Ser)
n.2550G>A
c.2815G>A (p.Gly939Ser)
n.2995G>A
n.2975G>A
c.2467G>A (p.Gly823Ser)
n.2960G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228366C>ACA509557674SLC4A11c.2451G>T (p.Thr817=)
c.2382G>T (p.Thr794=)
c.2260-10G>T (n.2260-10G>T)
c.2337G>T (p.Thr779=)
c.2499G>T (p.Thr833=)
c.2580G>T (p.Thr860=)
c.*599G>T (n.*599G>T)
c.2820G>T (p.Thr940=)
c.2394G>T (p.Thr798=)
c.2418G>T (p.Thr806=)
n.2549G>T
c.2814G>T (p.Thr938=)
n.2994G>T
n.2974G>T
c.2466G>T (p.Thr822=)
n.2959G>T
20g.3228366C=CA2346474958SLC4A11c.2451G= (p.Thr817=)
c.2382G= (p.Thr794=)
c.2260-10G= (n.2260-10G=)
c.2337G= (p.Thr779=)
c.2499G= (p.Thr833=)
c.2580G= (p.Thr860=)
c.*599G= (n.*599G=)
c.2820G= (p.Thr940=)
c.2394G= (p.Thr798=)
c.2418G= (p.Thr806=)
n.2549G=
c.2814G= (p.Thr938=)
n.2994G=
n.2974G=
c.2466G= (p.Thr822=)
n.2959G=
20g.3228366C>GCA509557675SLC4A11c.2451G>C (p.Thr817=)
c.2382G>C (p.Thr794=)
c.2260-10G>C (n.2260-10G>C)
c.2337G>C (p.Thr779=)
c.2499G>C (p.Thr833=)
c.2580G>C (p.Thr860=)
c.*599G>C (n.*599G>C)
c.2820G>C (p.Thr940=)
c.2394G>C (p.Thr798=)
c.2418G>C (p.Thr806=)
n.2549G>C
c.2814G>C (p.Thr938=)
n.2994G>C
n.2974G>C
c.2466G>C (p.Thr822=)
n.2959G>C
20g.3228366C>TCA9741456SLC4A11c.2451G>A (p.Thr817=)
c.2382G>A (p.Thr794=)
c.2260-10G>A (n.2260-10G>A)
c.2337G>A (p.Thr779=)
c.2499G>A (p.Thr833=)
c.2580G>A (p.Thr860=)
c.*599G>A (n.*599G>A)
c.2820G>A (p.Thr940=)
c.2394G>A (p.Thr798=)
c.2418G>A (p.Thr806=)
n.2549G>A
c.2814G>A (p.Thr938=)
n.2994G>A
n.2974G>A
c.2466G>A (p.Thr822=)
n.2959G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228367G>ACA408085094SLC4A11c.2450C>T (p.Thr817Met)
c.2381C>T (p.Thr794Met)
c.2260-11C>T (n.2260-11C>T)
c.2336C>T (p.Thr779Met)
c.2498C>T (p.Thr833Met)
c.2579C>T (p.Thr860Met)
c.*598C>T (n.*598C>T)
c.2819C>T (p.Thr940Met)
c.2393C>T (p.Thr798Met)
c.2417C>T (p.Thr806Met)
n.2548C>T
c.2813C>T (p.Thr938Met)
n.2993C>T
n.2973C>T
c.2465C>T (p.Thr822Met)
n.2958C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.3228367G>CCA408085095SLC4A11c.2450C>G (p.Thr817Arg)
c.2381C>G (p.Thr794Arg)
c.2260-11C>G (n.2260-11C>G)
c.2336C>G (p.Thr779Arg)
c.2498C>G (p.Thr833Arg)
c.2579C>G (p.Thr860Arg)
c.*598C>G (n.*598C>G)
c.2819C>G (p.Thr940Arg)
c.2393C>G (p.Thr798Arg)
c.2417C>G (p.Thr806Arg)
n.2548C>G
c.2813C>G (p.Thr938Arg)
n.2993C>G
n.2973C>G
c.2465C>G (p.Thr822Arg)
n.2958C>G
20g.3228367G=CA2346474959SLC4A11c.2450C= (p.Thr817=)
c.2381C= (p.Thr794=)
c.2260-11C= (n.2260-11C=)
c.2336C= (p.Thr779=)
c.2498C= (p.Thr833=)
c.2579C= (p.Thr860=)
c.*598C= (n.*598C=)
c.2819C= (p.Thr940=)
c.2393C= (p.Thr798=)
c.2417C= (p.Thr806=)
n.2548C=
c.2813C= (p.Thr938=)
n.2993C=
n.2973C=
c.2465C= (p.Thr822=)
n.2958C=
20g.3228367G>TCA408085097SLC4A11c.2450C>A (p.Thr817Lys)
c.2381C>A (p.Thr794Lys)
c.2260-11C>A (n.2260-11C>A)
c.2336C>A (p.Thr779Lys)
c.2498C>A (p.Thr833Lys)
c.2579C>A (p.Thr860Lys)
c.*598C>A (n.*598C>A)
c.2819C>A (p.Thr940Lys)
c.2393C>A (p.Thr798Lys)
c.2417C>A (p.Thr806Lys)
n.2548C>A
c.2813C>A (p.Thr938Lys)
n.2993C>A
n.2973C>A
c.2465C>A (p.Thr822Lys)
n.2958C>A
20g.3228370_3228377delCA2580611109SLC4A11c.2443_2450del (p.Tyr815GlyfsTer?)
c.2374_2381del (p.Tyr792GlyfsTer?)
c.2260-18_2260-11del (n.2260-18_2260-11del)
c.2329_2336del (p.Tyr777GlyfsTer?)
c.2491_2498del (p.Tyr831GlyfsTer?)
c.2572_2579del (p.Tyr858GlyfsTer?)
c.*591_*598del (n.*591_*598del)
c.2812_2819del (p.Tyr938GlyfsTer?)
c.2386_2393del (p.Tyr796GlyfsTer?)
c.2410_2417del (p.Tyr804GlyfsTer?)
n.2541_2548del
c.2806_2813del (p.Tyr936GlyfsTer?)
n.2986_2993del
n.2966_2973del
c.2458_2465del (p.Tyr820GlyfsTer?)
n.2951_2958del
20g.3228368T>ACA408085100SLC4A11c.2449A>T (p.Thr817Ser)
c.2380A>T (p.Thr794Ser)
c.2260-12A>T (n.2260-12A>T)
c.2335A>T (p.Thr779Ser)
c.2497A>T (p.Thr833Ser)
c.2578A>T (p.Thr860Ser)
c.*597A>T (n.*597A>T)
c.2818A>T (p.Thr940Ser)
c.2392A>T (p.Thr798Ser)
c.2416A>T (p.Thr806Ser)
n.2547A>T
c.2812A>T (p.Thr938Ser)
n.2992A>T
n.2972A>T
c.2464A>T (p.Thr822Ser)
n.2957A>T
20g.3228368T>CCA408085102SLC4A11c.2449A>G (p.Thr817Ala)
c.2380A>G (p.Thr794Ala)
c.2260-12A>G (n.2260-12A>G)
c.2335A>G (p.Thr779Ala)
c.2497A>G (p.Thr833Ala)
c.2578A>G (p.Thr860Ala)
c.*597A>G (n.*597A>G)
c.2818A>G (p.Thr940Ala)
c.2392A>G (p.Thr798Ala)
c.2416A>G (p.Thr806Ala)
n.2547A>G
c.2812A>G (p.Thr938Ala)
n.2992A>G
n.2972A>G
c.2464A>G (p.Thr822Ala)
n.2957A>G
20g.3228368T>GCA408085104SLC4A11c.2449A>C (p.Thr817Pro)
c.2380A>C (p.Thr794Pro)
c.2260-12A>C (n.2260-12A>C)
c.2335A>C (p.Thr779Pro)
c.2497A>C (p.Thr833Pro)
c.2578A>C (p.Thr860Pro)
c.*597A>C (n.*597A>C)
c.2818A>C (p.Thr940Pro)
c.2392A>C (p.Thr798Pro)
c.2416A>C (p.Thr806Pro)
n.2547A>C
c.2812A>C (p.Thr938Pro)
n.2992A>C
n.2972A>C
c.2464A>C (p.Thr822Pro)
n.2957A>C
20g.3228369G>ACA509557676SLC4A11c.2448C>T (p.Phe816=)
c.2379C>T (p.Phe793=)
c.2260-13C>T (n.2260-13C>T)
c.2334C>T (p.Phe778=)
c.2496C>T (p.Phe832=)
c.2577C>T (p.Phe859=)
c.*596C>T (n.*596C>T)
c.2817C>T (p.Phe939=)
c.2391C>T (p.Phe797=)
c.2415C>T (p.Phe805=)
n.2546C>T
c.2811C>T (p.Phe937=)
n.2991C>T
n.2971C>T
c.2463C>T (p.Phe821=)
n.2956C>T
 gnomAD v4
20g.3228369G>CCA408085106SLC4A11c.2448C>G (p.Phe816Leu)
c.2379C>G (p.Phe793Leu)
c.2260-13C>G (n.2260-13C>G)
c.2334C>G (p.Phe778Leu)
c.2496C>G (p.Phe832Leu)
c.2577C>G (p.Phe859Leu)
c.*596C>G (n.*596C>G)
c.2817C>G (p.Phe939Leu)
c.2391C>G (p.Phe797Leu)
c.2415C>G (p.Phe805Leu)
n.2546C>G
c.2811C>G (p.Phe937Leu)
n.2991C>G
n.2971C>G
c.2463C>G (p.Phe821Leu)
n.2956C>G
20g.3228369G>TCA408085108SLC4A11c.2448C>A (p.Phe816Leu)
c.2379C>A (p.Phe793Leu)
c.2260-13C>A (n.2260-13C>A)
c.2334C>A (p.Phe778Leu)
c.2496C>A (p.Phe832Leu)
c.2577C>A (p.Phe859Leu)
c.*596C>A (n.*596C>A)
c.2817C>A (p.Phe939Leu)
c.2391C>A (p.Phe797Leu)
c.2415C>A (p.Phe805Leu)
n.2546C>A
c.2811C>A (p.Phe937Leu)
n.2991C>A
n.2971C>A
c.2463C>A (p.Phe821Leu)
n.2956C>A
20g.3228370A>CCA408085112SLC4A11c.2447T>G (p.Phe816Cys)
c.2378T>G (p.Phe793Cys)
c.2260-14T>G (n.2260-14T>G)
c.2333T>G (p.Phe778Cys)
c.2495T>G (p.Phe832Cys)
c.2576T>G (p.Phe859Cys)
c.*595T>G (n.*595T>G)
c.2816T>G (p.Phe939Cys)
c.2390T>G (p.Phe797Cys)
c.2414T>G (p.Phe805Cys)
n.2545T>G
c.2810T>G (p.Phe937Cys)
n.2990T>G
n.2970T>G
c.2462T>G (p.Phe821Cys)
n.2955T>G
20g.3228370A>GCA408085115SLC4A11c.2447T>C (p.Phe816Ser)
c.2378T>C (p.Phe793Ser)
c.2260-14T>C (n.2260-14T>C)
c.2333T>C (p.Phe778Ser)
c.2495T>C (p.Phe832Ser)
c.2576T>C (p.Phe859Ser)
c.*595T>C (n.*595T>C)
c.2816T>C (p.Phe939Ser)
c.2390T>C (p.Phe797Ser)
c.2414T>C (p.Phe805Ser)
n.2545T>C
c.2810T>C (p.Phe937Ser)
n.2990T>C
n.2970T>C
c.2462T>C (p.Phe821Ser)
n.2955T>C
20g.3228370A>TCA408085111SLC4A11c.2447T>A (p.Phe816Tyr)
c.2378T>A (p.Phe793Tyr)
c.2260-14T>A (n.2260-14T>A)
c.2333T>A (p.Phe778Tyr)
c.2495T>A (p.Phe832Tyr)
c.2576T>A (p.Phe859Tyr)
c.*595T>A (n.*595T>A)
c.2816T>A (p.Phe939Tyr)
c.2390T>A (p.Phe797Tyr)
c.2414T>A (p.Phe805Tyr)
n.2545T>A
c.2810T>A (p.Phe937Tyr)
n.2990T>A
n.2970T>A
c.2462T>A (p.Phe821Tyr)
n.2955T>A
20g.3228371A>CCA408085117SLC4A11c.2446T>G (p.Phe816Val)
c.2377T>G (p.Phe793Val)
c.2260-15T>G (n.2260-15T>G)
c.2332T>G (p.Phe778Val)
c.2494T>G (p.Phe832Val)
c.2575T>G (p.Phe859Val)
c.*594T>G (n.*594T>G)
c.2815T>G (p.Phe939Val)
c.2389T>G (p.Phe797Val)
c.2413T>G (p.Phe805Val)
n.2544T>G
c.2809T>G (p.Phe937Val)
n.2989T>G
n.2969T>G
c.2461T>G (p.Phe821Val)
n.2954T>G
20g.3228371A>GCA408085120SLC4A11c.2446T>C (p.Phe816Leu)
c.2377T>C (p.Phe793Leu)
c.2260-15T>C (n.2260-15T>C)
c.2332T>C (p.Phe778Leu)
c.2494T>C (p.Phe832Leu)
c.2575T>C (p.Phe859Leu)
c.*594T>C (n.*594T>C)
c.2815T>C (p.Phe939Leu)
c.2389T>C (p.Phe797Leu)
c.2413T>C (p.Phe805Leu)
n.2544T>C
c.2809T>C (p.Phe937Leu)
n.2989T>C
n.2969T>C
c.2461T>C (p.Phe821Leu)
n.2954T>C
20g.3228371A>TCA408085122SLC4A11c.2446T>A (p.Phe816Ile)
c.2377T>A (p.Phe793Ile)
c.2260-15T>A (n.2260-15T>A)
c.2332T>A (p.Phe778Ile)
c.2494T>A (p.Phe832Ile)
c.2575T>A (p.Phe859Ile)
c.*594T>A (n.*594T>A)
c.2815T>A (p.Phe939Ile)
c.2389T>A (p.Phe797Ile)
c.2413T>A (p.Phe805Ile)
n.2544T>A
c.2809T>A (p.Phe937Ile)
n.2989T>A
n.2969T>A
c.2461T>A (p.Phe821Ile)
n.2954T>A
20g.3228372G>ACA509557677SLC4A11c.2445C>T (p.Tyr815=)
c.2376C>T (p.Tyr792=)
c.2260-16C>T (n.2260-16C>T)
c.2331C>T (p.Tyr777=)
c.2493C>T (p.Tyr831=)
c.2574C>T (p.Tyr858=)
c.*593C>T (n.*593C>T)
c.2814C>T (p.Tyr938=)
c.2388C>T (p.Tyr796=)
c.2412C>T (p.Tyr804=)
n.2543C>T
c.2808C>T (p.Tyr936=)
n.2988C>T
n.2968C>T
c.2460C>T (p.Tyr820=)
n.2953C>T
 dbSNP gnomAD v2 gnomAD v4
20g.3228372G>CCA408085125SLC4A11c.2445C>G (p.Tyr815Ter)
c.2376C>G (p.Tyr792Ter)
c.2260-16C>G (n.2260-16C>G)
c.2331C>G (p.Tyr777Ter)
c.2493C>G (p.Tyr831Ter)
c.2574C>G (p.Tyr858Ter)
c.*593C>G (n.*593C>G)
c.2814C>G (p.Tyr938Ter)
c.2388C>G (p.Tyr796Ter)
c.2412C>G (p.Tyr804Ter)
n.2543C>G
c.2808C>G (p.Tyr936Ter)
n.2988C>G
n.2968C>G
c.2460C>G (p.Tyr820Ter)
n.2953C>G
20g.3228372G=CA2346474960SLC4A11c.2445C= (p.Tyr815=)
c.2376C= (p.Tyr792=)
c.2260-16C= (n.2260-16C=)
c.2331C= (p.Tyr777=)
c.2493C= (p.Tyr831=)
c.2574C= (p.Tyr858=)
c.*593C= (n.*593C=)
c.2814C= (p.Tyr938=)
c.2388C= (p.Tyr796=)
c.2412C= (p.Tyr804=)
n.2543C=
c.2808C= (p.Tyr936=)
n.2988C=
n.2968C=
c.2460C= (p.Tyr820=)
n.2953C=
20g.3228372G>TCA408085126SLC4A11c.2445C>A (p.Tyr815Ter)
c.2376C>A (p.Tyr792Ter)
c.2260-16C>A (n.2260-16C>A)
c.2331C>A (p.Tyr777Ter)
c.2493C>A (p.Tyr831Ter)
c.2574C>A (p.Tyr858Ter)
c.*593C>A (n.*593C>A)
c.2814C>A (p.Tyr938Ter)
c.2388C>A (p.Tyr796Ter)
c.2412C>A (p.Tyr804Ter)
n.2543C>A
c.2808C>A (p.Tyr936Ter)
n.2988C>A
n.2968C>A
c.2460C>A (p.Tyr820Ter)
n.2953C>A
20g.3228373T>ACA408085130SLC4A11c.2444A>T (p.Tyr815Phe)
c.2375A>T (p.Tyr792Phe)
c.2260-17A>T (n.2260-17A>T)
c.2330A>T (p.Tyr777Phe)
c.2492A>T (p.Tyr831Phe)
c.2573A>T (p.Tyr858Phe)
c.*592A>T (n.*592A>T)
c.2813A>T (p.Tyr938Phe)
c.2387A>T (p.Tyr796Phe)
c.2411A>T (p.Tyr804Phe)
n.2542A>T
c.2807A>T (p.Tyr936Phe)
n.2987A>T
n.2967A>T
c.2459A>T (p.Tyr820Phe)
n.2952A>T
20g.3228373T>CCA9741457SLC4A11c.2444A>G (p.Tyr815Cys)
c.2375A>G (p.Tyr792Cys)
c.2260-17A>G (n.2260-17A>G)
c.2330A>G (p.Tyr777Cys)
c.2492A>G (p.Tyr831Cys)
c.2573A>G (p.Tyr858Cys)
c.*592A>G (n.*592A>G)
c.2813A>G (p.Tyr938Cys)
c.2387A>G (p.Tyr796Cys)
c.2411A>G (p.Tyr804Cys)
n.2542A>G
c.2807A>G (p.Tyr936Cys)
n.2987A>G
n.2967A>G
c.2459A>G (p.Tyr820Cys)
n.2952A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228373T>GCA408085133SLC4A11c.2444A>C (p.Tyr815Ser)
c.2375A>C (p.Tyr792Ser)
c.2260-17A>C (n.2260-17A>C)
c.2330A>C (p.Tyr777Ser)
c.2492A>C (p.Tyr831Ser)
c.2573A>C (p.Tyr858Ser)
c.*592A>C (n.*592A>C)
c.2813A>C (p.Tyr938Ser)
c.2387A>C (p.Tyr796Ser)
c.2411A>C (p.Tyr804Ser)
n.2542A>C
c.2807A>C (p.Tyr936Ser)
n.2987A>C
n.2967A>C
c.2459A>C (p.Tyr820Ser)
n.2952A>C
 dbSNP
20g.3228373T=CA2346474961SLC4A11c.2444A= (p.Tyr815=)
c.2375A= (p.Tyr792=)
c.2260-17A= (n.2260-17A=)
c.2330A= (p.Tyr777=)
c.2492A= (p.Tyr831=)
c.2573A= (p.Tyr858=)
c.*592A= (n.*592A=)
c.2813A= (p.Tyr938=)
c.2387A= (p.Tyr796=)
c.2411A= (p.Tyr804=)
n.2542A=
c.2807A= (p.Tyr936=)
n.2987A=
n.2967A=
c.2459A= (p.Tyr820=)
n.2952A=
20g.3228374A>CCA408085135SLC4A11c.2443T>G (p.Tyr815Asp)
c.2374T>G (p.Tyr792Asp)
c.2260-18T>G (n.2260-18T>G)
c.2329T>G (p.Tyr777Asp)
c.2491T>G (p.Tyr831Asp)
c.2572T>G (p.Tyr858Asp)
c.*591T>G (n.*591T>G)
c.2812T>G (p.Tyr938Asp)
c.2386T>G (p.Tyr796Asp)
c.2410T>G (p.Tyr804Asp)
n.2541T>G
c.2806T>G (p.Tyr936Asp)
n.2986T>G
n.2966T>G
c.2458T>G (p.Tyr820Asp)
n.2951T>G
20g.3228374A>GCA408085137SLC4A11c.2443T>C (p.Tyr815His)
c.2374T>C (p.Tyr792His)
c.2260-18T>C (n.2260-18T>C)
c.2329T>C (p.Tyr777His)
c.2491T>C (p.Tyr831His)
c.2572T>C (p.Tyr858His)
c.*591T>C (n.*591T>C)
c.2812T>C (p.Tyr938His)
c.2386T>C (p.Tyr796His)
c.2410T>C (p.Tyr804His)
n.2541T>C
c.2806T>C (p.Tyr936His)
n.2986T>C
n.2966T>C
c.2458T>C (p.Tyr820His)
n.2951T>C
20g.3228374A>TCA408085138SLC4A11c.2443T>A (p.Tyr815Asn)
c.2374T>A (p.Tyr792Asn)
c.2260-18T>A (n.2260-18T>A)
c.2329T>A (p.Tyr777Asn)
c.2491T>A (p.Tyr831Asn)
c.2572T>A (p.Tyr858Asn)
c.*591T>A (n.*591T>A)
c.2812T>A (p.Tyr938Asn)
c.2386T>A (p.Tyr796Asn)
c.2410T>A (p.Tyr804Asn)
n.2541T>A
c.2806T>A (p.Tyr936Asn)
n.2986T>A
n.2966T>A
c.2458T>A (p.Tyr820Asn)
n.2951T>A
20g.3228375G>ACA509557678SLC4A11c.2442C>T (p.His814=)
c.2373C>T (p.His791=)
c.2260-19C>T (n.2260-19C>T)
c.2328C>T (p.His776=)
c.2490C>T (p.His830=)
c.2571C>T (p.His857=)
c.*590C>T (n.*590C>T)
c.2811C>T (p.His937=)
c.2385C>T (p.His795=)
c.2409C>T (p.His803=)
n.2540C>T
c.2805C>T (p.His935=)
n.2985C>T
n.2965C>T
c.2457C>T (p.His819=)
n.2950C>T
20g.3228375G>CCA408085141SLC4A11c.2442C>G (p.His814Gln)
c.2373C>G (p.His791Gln)
c.2260-19C>G (n.2260-19C>G)
c.2328C>G (p.His776Gln)
c.2490C>G (p.His830Gln)
c.2571C>G (p.His857Gln)
c.*590C>G (n.*590C>G)
c.2811C>G (p.His937Gln)
c.2385C>G (p.His795Gln)
c.2409C>G (p.His803Gln)
n.2540C>G
c.2805C>G (p.His935Gln)
n.2985C>G
n.2965C>G
c.2457C>G (p.His819Gln)
n.2950C>G
20g.3228375G>TCA408085143SLC4A11c.2442C>A (p.His814Gln)
c.2373C>A (p.His791Gln)
c.2260-19C>A (n.2260-19C>A)
c.2328C>A (p.His776Gln)
c.2490C>A (p.His830Gln)
c.2571C>A (p.His857Gln)
c.*590C>A (n.*590C>A)
c.2811C>A (p.His937Gln)
c.2385C>A (p.His795Gln)
c.2409C>A (p.His803Gln)
n.2540C>A
c.2805C>A (p.His935Gln)
n.2985C>A
n.2965C>A
c.2457C>A (p.His819Gln)
n.2950C>A
20g.3228376T>ACA408085147SLC4A11c.2441A>T (p.His814Leu)
c.2372A>T (p.His791Leu)
c.2260-20A>T (n.2260-20A>T)
c.2327A>T (p.His776Leu)
c.2489A>T (p.His830Leu)
c.2570A>T (p.His857Leu)
c.*589A>T (n.*589A>T)
c.2810A>T (p.His937Leu)
c.2384A>T (p.His795Leu)
c.2408A>T (p.His803Leu)
n.2539A>T
c.2804A>T (p.His935Leu)
n.2984A>T
n.2964A>T
c.2456A>T (p.His819Leu)
n.2949A>T
20g.3228376T>CCA408085150SLC4A11c.2441A>G (p.His814Arg)
c.2372A>G (p.His791Arg)
c.2260-20A>G (n.2260-20A>G)
c.2327A>G (p.His776Arg)
c.2489A>G (p.His830Arg)
c.2570A>G (p.His857Arg)
c.*589A>G (n.*589A>G)
c.2810A>G (p.His937Arg)
c.2384A>G (p.His795Arg)
c.2408A>G (p.His803Arg)
n.2539A>G
c.2804A>G (p.His935Arg)
n.2984A>G
n.2964A>G
c.2456A>G (p.His819Arg)
n.2949A>G
20g.3228376T>GCA408085146SLC4A11c.2441A>C (p.His814Pro)
c.2372A>C (p.His791Pro)
c.2260-20A>C (n.2260-20A>C)
c.2327A>C (p.His776Pro)
c.2489A>C (p.His830Pro)
c.2570A>C (p.His857Pro)
c.*589A>C (n.*589A>C)
c.2810A>C (p.His937Pro)
c.2384A>C (p.His795Pro)
c.2408A>C (p.His803Pro)
n.2539A>C
c.2804A>C (p.His935Pro)
n.2984A>C
n.2964A>C
c.2456A>C (p.His819Pro)
n.2949A>C
20g.3228377G>ACA408085152SLC4A11c.2440C>T (p.His814Tyr)
c.2371C>T (p.His791Tyr)
c.2260-21C>T (n.2260-21C>T)
c.2326C>T (p.His776Tyr)
c.2488C>T (p.His830Tyr)
c.2569C>T (p.His857Tyr)
c.*588C>T (n.*588C>T)
c.2809C>T (p.His937Tyr)
c.2383C>T (p.His795Tyr)
c.2407C>T (p.His803Tyr)
n.2538C>T
c.2803C>T (p.His935Tyr)
n.2983C>T
n.2963C>T
c.2455C>T (p.His819Tyr)
n.2948C>T
 COSMIC COSMIC
20g.3228377G>CCA408085155SLC4A11c.2440C>G (p.His814Asp)
c.2371C>G (p.His791Asp)
c.2260-21C>G (n.2260-21C>G)
c.2326C>G (p.His776Asp)
c.2488C>G (p.His830Asp)
c.2569C>G (p.His857Asp)
c.*588C>G (n.*588C>G)
c.2809C>G (p.His937Asp)
c.2383C>G (p.His795Asp)
c.2407C>G (p.His803Asp)
n.2538C>G
c.2803C>G (p.His935Asp)
n.2983C>G
n.2963C>G
c.2455C>G (p.His819Asp)
n.2948C>G
20g.3228377G>TCA408085157SLC4A11c.2440C>A (p.His814Asn)
c.2371C>A (p.His791Asn)
c.2260-21C>A (n.2260-21C>A)
c.2326C>A (p.His776Asn)
c.2488C>A (p.His830Asn)
c.2569C>A (p.His857Asn)
c.*588C>A (n.*588C>A)
c.2809C>A (p.His937Asn)
c.2383C>A (p.His795Asn)
c.2407C>A (p.His803Asn)
n.2538C>A
c.2803C>A (p.His935Asn)
n.2983C>A
n.2963C>A
c.2455C>A (p.His819Asn)
n.2948C>A
20g.3228378G>ACA509557679SLC4A11c.2439C>T (p.Ile813=)
c.2370C>T (p.Ile790=)
c.2260-22C>T (n.2260-22C>T)
c.2325C>T (p.Ile775=)
c.2487C>T (p.Ile829=)
c.2568C>T (p.Ile856=)
c.*587C>T (n.*587C>T)
c.2808C>T (p.Ile936=)
c.2382C>T (p.Ile794=)
c.2406C>T (p.Ile802=)
n.2537C>T
c.2802C>T (p.Ile934=)
n.2982C>T
n.2962C>T
c.2454C>T (p.Ile818=)
n.2947C>T
20g.3228378G>CCA408085160SLC4A11c.2439C>G (p.Ile813Met)
c.2370C>G (p.Ile790Met)
c.2260-22C>G (n.2260-22C>G)
c.2325C>G (p.Ile775Met)
c.2487C>G (p.Ile829Met)
c.2568C>G (p.Ile856Met)
c.*587C>G (n.*587C>G)
c.2808C>G (p.Ile936Met)
c.2382C>G (p.Ile794Met)
c.2406C>G (p.Ile802Met)
n.2537C>G
c.2802C>G (p.Ile934Met)
n.2982C>G
n.2962C>G
c.2454C>G (p.Ile818Met)
n.2947C>G
 gnomAD v4
20g.3228378G=CA2346474962SLC4A11c.2439C= (p.Ile813=)
c.2370C= (p.Ile790=)
c.2260-22C= (n.2260-22C=)
c.2325C= (p.Ile775=)
c.2487C= (p.Ile829=)
c.2568C= (p.Ile856=)
c.*587C= (n.*587C=)
c.2808C= (p.Ile936=)
c.2382C= (p.Ile794=)
c.2406C= (p.Ile802=)
n.2537C=
c.2802C= (p.Ile934=)
n.2982C=
n.2962C=
c.2454C= (p.Ile818=)
n.2947C=
20g.3228378G>TCA509557680SLC4A11c.2439C>A (p.Ile813=)
c.2370C>A (p.Ile790=)
c.2260-22C>A (n.2260-22C>A)
c.2325C>A (p.Ile775=)
c.2487C>A (p.Ile829=)
c.2568C>A (p.Ile856=)
c.*587C>A (n.*587C>A)
c.2808C>A (p.Ile936=)
c.2382C>A (p.Ile794=)
c.2406C>A (p.Ile802=)
n.2537C>A
c.2802C>A (p.Ile934=)
n.2982C>A
n.2962C>A
c.2454C>A (p.Ile818=)
n.2947C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.3228379A=CA2346474963SLC4A11c.2438T= (p.Ile813=)
c.2369T= (p.Ile790=)
c.2260-23T= (n.2260-23T=)
c.2324T= (p.Ile775=)
c.2486T= (p.Ile829=)
c.2567T= (p.Ile856=)
c.*586T= (n.*586T=)
c.2807T= (p.Ile936=)
c.2381T= (p.Ile794=)
c.2405T= (p.Ile802=)
n.2536T=
c.2801T= (p.Ile934=)
n.2981T=
n.2961T=
c.2453T= (p.Ile818=)
n.2946T=
20g.3228379A>CCA408085164SLC4A11c.2438T>G (p.Ile813Ser)
c.2369T>G (p.Ile790Ser)
c.2260-23T>G (n.2260-23T>G)
c.2324T>G (p.Ile775Ser)
c.2486T>G (p.Ile829Ser)
c.2567T>G (p.Ile856Ser)
c.*586T>G (n.*586T>G)
c.2807T>G (p.Ile936Ser)
c.2381T>G (p.Ile794Ser)
c.2405T>G (p.Ile802Ser)
n.2536T>G
c.2801T>G (p.Ile934Ser)
n.2981T>G
n.2961T>G
c.2453T>G (p.Ile818Ser)
n.2946T>G
20g.3228379A>GCA9741458SLC4A11c.2438T>C (p.Ile813Thr)
c.2369T>C (p.Ile790Thr)
c.2260-23T>C (n.2260-23T>C)
c.2324T>C (p.Ile775Thr)
c.2486T>C (p.Ile829Thr)
c.2567T>C (p.Ile856Thr)
c.*586T>C (n.*586T>C)
c.2807T>C (p.Ile936Thr)
c.2381T>C (p.Ile794Thr)
c.2405T>C (p.Ile802Thr)
n.2536T>C
c.2801T>C (p.Ile934Thr)
n.2981T>C
n.2961T>C
c.2453T>C (p.Ile818Thr)
n.2946T>C
 dbSNP ExAC
20g.3228379A>TCA408085166SLC4A11c.2438T>A (p.Ile813Asn)
c.2369T>A (p.Ile790Asn)
c.2260-23T>A (n.2260-23T>A)
c.2324T>A (p.Ile775Asn)
c.2486T>A (p.Ile829Asn)
c.2567T>A (p.Ile856Asn)
c.*586T>A (n.*586T>A)
c.2807T>A (p.Ile936Asn)
c.2381T>A (p.Ile794Asn)
c.2405T>A (p.Ile802Asn)
n.2536T>A
c.2801T>A (p.Ile934Asn)
n.2981T>A
n.2961T>A
c.2453T>A (p.Ile818Asn)
n.2946T>A
20g.3228380T>ACA408085169SLC4A11c.2437A>T (p.Ile813Phe)
c.2368A>T (p.Ile790Phe)
c.2260-24A>T (n.2260-24A>T)
c.2323A>T (p.Ile775Phe)
c.2485A>T (p.Ile829Phe)
c.2566A>T (p.Ile856Phe)
c.*585A>T (n.*585A>T)
c.2806A>T (p.Ile936Phe)
c.2380A>T (p.Ile794Phe)
c.2404A>T (p.Ile802Phe)
n.2535A>T
c.2800A>T (p.Ile934Phe)
n.2980A>T
n.2960A>T
c.2452A>T (p.Ile818Phe)
n.2945A>T
20g.3228380T>CCA408085174SLC4A11c.2437A>G (p.Ile813Val)
c.2368A>G (p.Ile790Val)
c.2260-24A>G (n.2260-24A>G)
c.2323A>G (p.Ile775Val)
c.2485A>G (p.Ile829Val)
c.2566A>G (p.Ile856Val)
c.*585A>G (n.*585A>G)
c.2806A>G (p.Ile936Val)
c.2380A>G (p.Ile794Val)
c.2404A>G (p.Ile802Val)
n.2535A>G
c.2800A>G (p.Ile934Val)
n.2980A>G
n.2960A>G
c.2452A>G (p.Ile818Val)
n.2945A>G
20g.3228380T>GCA408085171SLC4A11c.2437A>C (p.Ile813Leu)
c.2368A>C (p.Ile790Leu)
c.2260-24A>C (n.2260-24A>C)
c.2323A>C (p.Ile775Leu)
c.2485A>C (p.Ile829Leu)
c.2566A>C (p.Ile856Leu)
c.*585A>C (n.*585A>C)
c.2806A>C (p.Ile936Leu)
c.2380A>C (p.Ile794Leu)
c.2404A>C (p.Ile802Leu)
n.2535A>C
c.2800A>C (p.Ile934Leu)
n.2980A>C
n.2960A>C
c.2452A>C (p.Ile818Leu)
n.2945A>C
20g.3228381C>ACA408085177SLC4A11c.2436G>T (p.Lys812Asn)
c.2367G>T (p.Lys789Asn)
c.2260-25G>T (n.2260-25G>T)
c.2322G>T (p.Lys774Asn)
c.2484G>T (p.Lys828Asn)
c.2565G>T (p.Lys855Asn)
c.*584G>T (n.*584G>T)
c.2805G>T (p.Lys935Asn)
c.2379G>T (p.Lys793Asn)
c.2403G>T (p.Lys801Asn)
n.2534G>T
c.2799G>T (p.Lys933Asn)
n.2979G>T
n.2959G>T
c.2451G>T (p.Lys817Asn)
n.2944G>T
 gnomAD v4
20g.3228381C=CA2346474964SLC4A11c.2436G= (p.Lys812=)
c.2367G= (p.Lys789=)
c.2260-25G= (n.2260-25G=)
c.2322G= (p.Lys774=)
c.2484G= (p.Lys828=)
c.2565G= (p.Lys855=)
c.*584G= (n.*584G=)
c.2805G= (p.Lys935=)
c.2379G= (p.Lys793=)
c.2403G= (p.Lys801=)
n.2534G=
c.2799G= (p.Lys933=)
n.2979G=
n.2959G=
c.2451G= (p.Lys817=)
n.2944G=
20g.3228381C>GCA408085180SLC4A11c.2436G>C (p.Lys812Asn)
c.2367G>C (p.Lys789Asn)
c.2260-25G>C (n.2260-25G>C)
c.2322G>C (p.Lys774Asn)
c.2484G>C (p.Lys828Asn)
c.2565G>C (p.Lys855Asn)
c.*584G>C (n.*584G>C)
c.2805G>C (p.Lys935Asn)
c.2379G>C (p.Lys793Asn)
c.2403G>C (p.Lys801Asn)
n.2534G>C
c.2799G>C (p.Lys933Asn)
n.2979G>C
n.2959G>C
c.2451G>C (p.Lys817Asn)
n.2944G>C
20g.3228381C>TCA509557681SLC4A11c.2436G>A (p.Lys812=)
c.2367G>A (p.Lys789=)
c.2260-25G>A (n.2260-25G>A)
c.2322G>A (p.Lys774=)
c.2484G>A (p.Lys828=)
c.2565G>A (p.Lys855=)
c.*584G>A (n.*584G>A)
c.2805G>A (p.Lys935=)
c.2379G>A (p.Lys793=)
c.2403G>A (p.Lys801=)
n.2534G>A
c.2799G>A (p.Lys933=)
n.2979G>A
n.2959G>A
c.2451G>A (p.Lys817=)
n.2944G>A
 ClinVar dbSNP gnomAD v4
20g.3228382T>ACA408085182SLC4A11c.2435A>T (p.Lys812Met)
c.2366A>T (p.Lys789Met)
c.2260-26A>T (n.2260-26A>T)
c.2321A>T (p.Lys774Met)
c.2483A>T (p.Lys828Met)
c.2564A>T (p.Lys855Met)
c.*583A>T (n.*583A>T)
c.2804A>T (p.Lys935Met)
c.2378A>T (p.Lys793Met)
c.2402A>T (p.Lys801Met)
n.2533A>T
c.2798A>T (p.Lys933Met)
n.2978A>T
n.2958A>T
c.2450A>T (p.Lys817Met)
n.2943A>T
20g.3228382T>CCA408085183SLC4A11c.2435A>G (p.Lys812Arg)
c.2366A>G (p.Lys789Arg)
c.2260-26A>G (n.2260-26A>G)
c.2321A>G (p.Lys774Arg)
c.2483A>G (p.Lys828Arg)
c.2564A>G (p.Lys855Arg)
c.*583A>G (n.*583A>G)
c.2804A>G (p.Lys935Arg)
c.2378A>G (p.Lys793Arg)
c.2402A>G (p.Lys801Arg)
n.2533A>G
c.2798A>G (p.Lys933Arg)
n.2978A>G
n.2958A>G
c.2450A>G (p.Lys817Arg)
n.2943A>G
20g.3228382T>GCA408085186SLC4A11c.2435A>C (p.Lys812Thr)
c.2366A>C (p.Lys789Thr)
c.2260-26A>C (n.2260-26A>C)
c.2321A>C (p.Lys774Thr)
c.2483A>C (p.Lys828Thr)
c.2564A>C (p.Lys855Thr)
c.*583A>C (n.*583A>C)
c.2804A>C (p.Lys935Thr)
c.2378A>C (p.Lys793Thr)
c.2402A>C (p.Lys801Thr)
n.2533A>C
c.2798A>C (p.Lys933Thr)
n.2978A>C
n.2958A>C
c.2450A>C (p.Lys817Thr)
n.2943A>C
20g.3228383T>ACA408085192SLC4A11c.2434A>T (p.Lys812Ter)
c.2365A>T (p.Lys789Ter)
c.2260-27A>T (n.2260-27A>T)
c.2320A>T (p.Lys774Ter)
c.2482A>T (p.Lys828Ter)
c.2563A>T (p.Lys855Ter)
c.*582A>T (n.*582A>T)
c.2803A>T (p.Lys935Ter)
c.2377A>T (p.Lys793Ter)
c.2401A>T (p.Lys801Ter)
n.2532A>T
c.2797A>T (p.Lys933Ter)
n.2977A>T
n.2957A>T
c.2449A>T (p.Lys817Ter)
n.2942A>T
20g.3228383T>CCA408085194SLC4A11c.2434A>G (p.Lys812Glu)
c.2365A>G (p.Lys789Glu)
c.2260-27A>G (n.2260-27A>G)
c.2320A>G (p.Lys774Glu)
c.2482A>G (p.Lys828Glu)
c.2563A>G (p.Lys855Glu)
c.*582A>G (n.*582A>G)
c.2803A>G (p.Lys935Glu)
c.2377A>G (p.Lys793Glu)
c.2401A>G (p.Lys801Glu)
n.2532A>G
c.2797A>G (p.Lys933Glu)
n.2977A>G
n.2957A>G
c.2449A>G (p.Lys817Glu)
n.2942A>G
20g.3228383T>GCA408085189SLC4A11c.2434A>C (p.Lys812Gln)
c.2365A>C (p.Lys789Gln)
c.2260-27A>C (n.2260-27A>C)
c.2320A>C (p.Lys774Gln)
c.2482A>C (p.Lys828Gln)
c.2563A>C (p.Lys855Gln)
c.*582A>C (n.*582A>C)
c.2803A>C (p.Lys935Gln)
c.2377A>C (p.Lys793Gln)
c.2401A>C (p.Lys801Gln)
n.2532A>C
c.2797A>C (p.Lys933Gln)
n.2977A>C
n.2957A>C
c.2449A>C (p.Lys817Gln)
n.2942A>C
20g.3228384C>ACA408085197SLC4A11c.2433G>T (p.Arg811Ser)
c.2364G>T (p.Arg788Ser)
c.2260-28G>T (n.2260-28G>T)
c.2319G>T (p.Arg773Ser)
c.2481G>T (p.Arg827Ser)
c.2562G>T (p.Arg854Ser)
c.*581G>T (n.*581G>T)
c.2802G>T (p.Arg934Ser)
c.2376G>T (p.Arg792Ser)
c.2400G>T (p.Arg800Ser)
n.2531G>T
c.2796G>T (p.Arg932Ser)
n.2976G>T
n.2956G>T
c.2448G>T (p.Arg816Ser)
n.2941G>T
20g.3228384C>GCA408085198SLC4A11c.2433G>C (p.Arg811Ser)
c.2364G>C (p.Arg788Ser)
c.2260-28G>C (n.2260-28G>C)
c.2319G>C (p.Arg773Ser)
c.2481G>C (p.Arg827Ser)
c.2562G>C (p.Arg854Ser)
c.*581G>C (n.*581G>C)
c.2802G>C (p.Arg934Ser)
c.2376G>C (p.Arg792Ser)
c.2400G>C (p.Arg800Ser)
n.2531G>C
c.2796G>C (p.Arg932Ser)
n.2976G>C
n.2956G>C
c.2448G>C (p.Arg816Ser)
n.2941G>C
20g.3228384C>TCA509557682SLC4A11c.2433G>A (p.Arg811=)
c.2364G>A (p.Arg788=)
c.2260-28G>A (n.2260-28G>A)
c.2319G>A (p.Arg773=)
c.2481G>A (p.Arg827=)
c.2562G>A (p.Arg854=)
c.*581G>A (n.*581G>A)
c.2802G>A (p.Arg934=)
c.2376G>A (p.Arg792=)
c.2400G>A (p.Arg800=)
n.2531G>A
c.2796G>A (p.Arg932=)
n.2976G>A
n.2956G>A
c.2448G>A (p.Arg816=)
n.2941G>A
20g.3228385C>ACA408085205SLC4A11c.2432G>T (p.Arg811Met)
c.2363G>T (p.Arg788Met)
c.2260-29G>T (n.2260-29G>T)
c.2318G>T (p.Arg773Met)
c.2480G>T (p.Arg827Met)
c.2561G>T (p.Arg854Met)
c.*580G>T (n.*580G>T)
c.2801G>T (p.Arg934Met)
c.2375G>T (p.Arg792Met)
c.2399G>T (p.Arg800Met)
n.2530G>T
c.2795G>T (p.Arg932Met)
n.2975G>T
n.2955G>T
c.2447G>T (p.Arg816Met)
n.2940G>T
20g.3228385C>GCA408085211SLC4A11c.2432G>C (p.Arg811Thr)
c.2363G>C (p.Arg788Thr)
c.2260-29G>C (n.2260-29G>C)
c.2318G>C (p.Arg773Thr)
c.2480G>C (p.Arg827Thr)
c.2561G>C (p.Arg854Thr)
c.*580G>C (n.*580G>C)
c.2801G>C (p.Arg934Thr)
c.2375G>C (p.Arg792Thr)
c.2399G>C (p.Arg800Thr)
n.2530G>C
c.2795G>C (p.Arg932Thr)
n.2975G>C
n.2955G>C
c.2447G>C (p.Arg816Thr)
n.2940G>C
20g.3228385C>TCA408085208SLC4A11c.2432G>A (p.Arg811Lys)
c.2363G>A (p.Arg788Lys)
c.2260-29G>A (n.2260-29G>A)
c.2318G>A (p.Arg773Lys)
c.2480G>A (p.Arg827Lys)
c.2561G>A (p.Arg854Lys)
c.*580G>A (n.*580G>A)
c.2801G>A (p.Arg934Lys)
c.2375G>A (p.Arg792Lys)
c.2399G>A (p.Arg800Lys)
n.2530G>A
c.2795G>A (p.Arg932Lys)
n.2975G>A
n.2955G>A
c.2447G>A (p.Arg816Lys)
n.2940G>A
 gnomAD v3 gnomAD v4
20g.3228386T>ACA408085214SLC4A11c.2431A>T (p.Arg811Trp)
c.2362A>T (p.Arg788Trp)
c.2260-30A>T (n.2260-30A>T)
c.2317A>T (p.Arg773Trp)
c.2479A>T (p.Arg827Trp)
c.2560A>T (p.Arg854Trp)
c.*579A>T (n.*579A>T)
c.2800A>T (p.Arg934Trp)
c.2374A>T (p.Arg792Trp)
c.2398A>T (p.Arg800Trp)
n.2529A>T
c.2794A>T (p.Arg932Trp)
n.2974A>T
n.2954A>T
c.2446A>T (p.Arg816Trp)
n.2939A>T
20g.3228386T>CCA408085216SLC4A11c.2431A>G (p.Arg811Gly)
c.2362A>G (p.Arg788Gly)
c.2260-30A>G (n.2260-30A>G)
c.2317A>G (p.Arg773Gly)
c.2479A>G (p.Arg827Gly)
c.2560A>G (p.Arg854Gly)
c.*579A>G (n.*579A>G)
c.2800A>G (p.Arg934Gly)
c.2374A>G (p.Arg792Gly)
c.2398A>G (p.Arg800Gly)
n.2529A>G
c.2794A>G (p.Arg932Gly)
n.2974A>G
n.2954A>G
c.2446A>G (p.Arg816Gly)
n.2939A>G
20g.3228386T>GCA509557683SLC4A11c.2431A>C (p.Arg811=)
c.2362A>C (p.Arg788=)
c.2260-30A>C (n.2260-30A>C)
c.2317A>C (p.Arg773=)
c.2479A>C (p.Arg827=)
c.2560A>C (p.Arg854=)
c.*579A>C (n.*579A>C)
c.2800A>C (p.Arg934=)
c.2374A>C (p.Arg792=)
c.2398A>C (p.Arg800=)
n.2529A>C
c.2794A>C (p.Arg932=)
n.2974A>C
n.2954A>C
c.2446A>C (p.Arg816=)
n.2939A>C
20g.3228387C>ACA408085218SLC4A11c.2430G>T (p.Gln810His)
c.2361G>T (p.Gln787His)
c.2260-31G>T (n.2260-31G>T)
c.2316G>T (p.Gln772His)
c.2478G>T (p.Gln826His)
c.2559G>T (p.Gln853His)
c.*578G>T (n.*578G>T)
c.2799G>T (p.Gln933His)
c.2373G>T (p.Gln791His)
c.2397G>T (p.Gln799His)
n.2528G>T
c.2793G>T (p.Gln931His)
n.2973G>T
n.2953G>T
c.2445G>T (p.Gln815His)
n.2938G>T
20g.3228387C>GCA408085219SLC4A11c.2430G>C (p.Gln810His)
c.2361G>C (p.Gln787His)
c.2260-31G>C (n.2260-31G>C)
c.2316G>C (p.Gln772His)
c.2478G>C (p.Gln826His)
c.2559G>C (p.Gln853His)
c.*578G>C (n.*578G>C)
c.2799G>C (p.Gln933His)
c.2373G>C (p.Gln791His)
c.2397G>C (p.Gln799His)
n.2528G>C
c.2793G>C (p.Gln931His)
n.2973G>C
n.2953G>C
c.2445G>C (p.Gln815His)
n.2938G>C
20g.3228387C>TCA509557684SLC4A11c.2430G>A (p.Gln810=)
c.2361G>A (p.Gln787=)
c.2260-31G>A (n.2260-31G>A)
c.2316G>A (p.Gln772=)
c.2478G>A (p.Gln826=)
c.2559G>A (p.Gln853=)
c.*578G>A (n.*578G>A)
c.2799G>A (p.Gln933=)
c.2373G>A (p.Gln791=)
c.2397G>A (p.Gln799=)
n.2528G>A
c.2793G>A (p.Gln931=)
n.2973G>A
n.2953G>A
c.2445G>A (p.Gln815=)
n.2938G>A
20g.3228388T>ACA408085221SLC4A11c.2429A>T (p.Gln810Leu)
c.2360A>T (p.Gln787Leu)
c.2260-32A>T (n.2260-32A>T)
c.2315A>T (p.Gln772Leu)
c.2477A>T (p.Gln826Leu)
c.2558A>T (p.Gln853Leu)
c.*577A>T (n.*577A>T)
c.2798A>T (p.Gln933Leu)
c.2372A>T (p.Gln791Leu)
c.2396A>T (p.Gln799Leu)
n.2527A>T
c.2792A>T (p.Gln931Leu)
n.2972A>T
n.2952A>T
c.2444A>T (p.Gln815Leu)
n.2937A>T
20g.3228388T>CCA408085223SLC4A11c.2429A>G (p.Gln810Arg)
c.2360A>G (p.Gln787Arg)
c.2260-32A>G (n.2260-32A>G)
c.2315A>G (p.Gln772Arg)
c.2477A>G (p.Gln826Arg)
c.2558A>G (p.Gln853Arg)
c.*577A>G (n.*577A>G)
c.2798A>G (p.Gln933Arg)
c.2372A>G (p.Gln791Arg)
c.2396A>G (p.Gln799Arg)
n.2527A>G
c.2792A>G (p.Gln931Arg)
n.2972A>G
n.2952A>G
c.2444A>G (p.Gln815Arg)
n.2937A>G
20g.3228388T>GCA408085225SLC4A11c.2429A>C (p.Gln810Pro)
c.2360A>C (p.Gln787Pro)
c.2260-32A>C (n.2260-32A>C)
c.2315A>C (p.Gln772Pro)
c.2477A>C (p.Gln826Pro)
c.2558A>C (p.Gln853Pro)
c.*577A>C (n.*577A>C)
c.2798A>C (p.Gln933Pro)
c.2372A>C (p.Gln791Pro)
c.2396A>C (p.Gln799Pro)
n.2527A>C
c.2792A>C (p.Gln931Pro)
n.2972A>C
n.2952A>C
c.2444A>C (p.Gln815Pro)
n.2937A>C
20g.3228389G>ACA408085227SLC4A11c.2428C>T (p.Gln810Ter)
c.2359C>T (p.Gln787Ter)
c.2260-33C>T (n.2260-33C>T)
c.2314C>T (p.Gln772Ter)
c.2476C>T (p.Gln826Ter)
c.2557C>T (p.Gln853Ter)
c.*576C>T (n.*576C>T)
c.2797C>T (p.Gln933Ter)
c.2371C>T (p.Gln791Ter)
c.2395C>T (p.Gln799Ter)
n.2526C>T
c.2791C>T (p.Gln931Ter)
n.2971C>T
n.2951C>T
c.2443C>T (p.Gln815Ter)
n.2936C>T
 gnomAD v4
20g.3228389G>CCA408085229SLC4A11c.2428C>G (p.Gln810Glu)
c.2359C>G (p.Gln787Glu)
c.2260-33C>G (n.2260-33C>G)
c.2314C>G (p.Gln772Glu)
c.2476C>G (p.Gln826Glu)
c.2557C>G (p.Gln853Glu)
c.*576C>G (n.*576C>G)
c.2797C>G (p.Gln933Glu)
c.2371C>G (p.Gln791Glu)
c.2395C>G (p.Gln799Glu)
n.2526C>G
c.2791C>G (p.Gln931Glu)
n.2971C>G
n.2951C>G
c.2443C>G (p.Gln815Glu)
n.2936C>G
 gnomAD v4
20g.3228389G>TCA408085231SLC4A11c.2428C>A (p.Gln810Lys)
c.2359C>A (p.Gln787Lys)
c.2260-33C>A (n.2260-33C>A)
c.2314C>A (p.Gln772Lys)
c.2476C>A (p.Gln826Lys)
c.2557C>A (p.Gln853Lys)
c.*576C>A (n.*576C>A)
c.2797C>A (p.Gln933Lys)
c.2371C>A (p.Gln791Lys)
c.2395C>A (p.Gln799Lys)
n.2526C>A
c.2791C>A (p.Gln931Lys)
n.2971C>A
n.2951C>A
c.2443C>A (p.Gln815Lys)
n.2936C>A
20g.3228390G>ACA509557687SLC4A11c.2427C>T (p.Pro809=)
c.2358C>T (p.Pro786=)
c.2260-34C>T (n.2260-34C>T)
c.2313C>T (p.Pro771=)
c.2475C>T (p.Pro825=)
c.2556C>T (p.Pro852=)
c.*575C>T (n.*575C>T)
c.2796C>T (p.Pro932=)
c.2370C>T (p.Pro790=)
c.2394C>T (p.Pro798=)
n.2525C>T
c.2790C>T (p.Pro930=)
n.2970C>T
n.2950C>T
c.2442C>T (p.Pro814=)
n.2935C>T
20g.3228390G>CCA509557685SLC4A11c.2427C>G (p.Pro809=)
c.2358C>G (p.Pro786=)
c.2260-34C>G (n.2260-34C>G)
c.2313C>G (p.Pro771=)
c.2475C>G (p.Pro825=)
c.2556C>G (p.Pro852=)
c.*575C>G (n.*575C>G)
c.2796C>G (p.Pro932=)
c.2370C>G (p.Pro790=)
c.2394C>G (p.Pro798=)
n.2525C>G
c.2790C>G (p.Pro930=)
n.2970C>G
n.2950C>G
c.2442C>G (p.Pro814=)
n.2935C>G
 ClinVar
20g.3228390G>TCA509557686SLC4A11c.2427C>A (p.Pro809=)
c.2358C>A (p.Pro786=)
c.2260-34C>A (n.2260-34C>A)
c.2313C>A (p.Pro771=)
c.2475C>A (p.Pro825=)
c.2556C>A (p.Pro852=)
c.*575C>A (n.*575C>A)
c.2796C>A (p.Pro932=)
c.2370C>A (p.Pro790=)
c.2394C>A (p.Pro798=)
n.2525C>A
c.2790C>A (p.Pro930=)
n.2970C>A
n.2950C>A
c.2442C>A (p.Pro814=)
n.2935C>A
20g.3228391G>ACA408085233SLC4A11c.2426C>T (p.Pro809Leu)
c.2357C>T (p.Pro786Leu)
c.2260-35C>T (n.2260-35C>T)
c.2312C>T (p.Pro771Leu)
c.2474C>T (p.Pro825Leu)
c.2555C>T (p.Pro852Leu)
c.*574C>T (n.*574C>T)
c.2795C>T (p.Pro932Leu)
c.2369C>T (p.Pro790Leu)
c.2393C>T (p.Pro798Leu)
n.2524C>T
c.2789C>T (p.Pro930Leu)
n.2969C>T
n.2949C>T
c.2441C>T (p.Pro814Leu)
n.2934C>T
 dbSNP gnomAD v4
20g.3228391G>CCA408085235SLC4A11c.2426C>G (p.Pro809Arg)
c.2357C>G (p.Pro786Arg)
c.2260-35C>G (n.2260-35C>G)
c.2312C>G (p.Pro771Arg)
c.2474C>G (p.Pro825Arg)
c.2555C>G (p.Pro852Arg)
c.*574C>G (n.*574C>G)
c.2795C>G (p.Pro932Arg)
c.2369C>G (p.Pro790Arg)
c.2393C>G (p.Pro798Arg)
n.2524C>G
c.2789C>G (p.Pro930Arg)
n.2969C>G
n.2949C>G
c.2441C>G (p.Pro814Arg)
n.2934C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228391G=CA2346474965SLC4A11c.2426C= (p.Pro809=)
c.2357C= (p.Pro786=)
c.2260-35C= (n.2260-35C=)
c.2312C= (p.Pro771=)
c.2474C= (p.Pro825=)
c.2555C= (p.Pro852=)
c.*574C= (n.*574C=)
c.2795C= (p.Pro932=)
c.2369C= (p.Pro790=)
c.2393C= (p.Pro798=)
n.2524C=
c.2789C= (p.Pro930=)
n.2969C=
n.2949C=
c.2441C= (p.Pro814=)
n.2934C=
20g.3228391G>TCA408085238SLC4A11c.2426C>A (p.Pro809His)
c.2357C>A (p.Pro786His)
c.2260-35C>A (n.2260-35C>A)
c.2312C>A (p.Pro771His)
c.2474C>A (p.Pro825His)
c.2555C>A (p.Pro852His)
c.*574C>A (n.*574C>A)
c.2795C>A (p.Pro932His)
c.2369C>A (p.Pro790His)
c.2393C>A (p.Pro798His)
n.2524C>A
c.2789C>A (p.Pro930His)
n.2969C>A
n.2949C>A
c.2441C>A (p.Pro814His)
n.2934C>A
20g.3228392G>ACA408085240SLC4A11c.2425C>T (p.Pro809Ser)
c.2356C>T (p.Pro786Ser)
c.2260-36C>T (n.2260-36C>T)
c.2311C>T (p.Pro771Ser)
c.2473C>T (p.Pro825Ser)
c.2554C>T (p.Pro852Ser)
c.*573C>T (n.*573C>T)
c.2794C>T (p.Pro932Ser)
c.2368C>T (p.Pro790Ser)
c.2392C>T (p.Pro798Ser)
n.2523C>T
c.2788C>T (p.Pro930Ser)
n.2968C>T
n.2948C>T
c.2440C>T (p.Pro814Ser)
n.2933C>T
 dbSNP gnomAD v2
20g.3228392G>CCA408085242SLC4A11c.2425C>G (p.Pro809Ala)
c.2356C>G (p.Pro786Ala)
c.2260-36C>G (n.2260-36C>G)
c.2311C>G (p.Pro771Ala)
c.2473C>G (p.Pro825Ala)
c.2554C>G (p.Pro852Ala)
c.*573C>G (n.*573C>G)
c.2794C>G (p.Pro932Ala)
c.2368C>G (p.Pro790Ala)
c.2392C>G (p.Pro798Ala)
n.2523C>G
c.2788C>G (p.Pro930Ala)
n.2968C>G
n.2948C>G
c.2440C>G (p.Pro814Ala)
n.2933C>G
20g.3228392G=CA2346474966SLC4A11c.2425C= (p.Pro809=)
c.2356C= (p.Pro786=)
c.2260-36C= (n.2260-36C=)
c.2311C= (p.Pro771=)
c.2473C= (p.Pro825=)
c.2554C= (p.Pro852=)
c.*573C= (n.*573C=)
c.2794C= (p.Pro932=)
c.2368C= (p.Pro790=)
c.2392C= (p.Pro798=)
n.2523C=
c.2788C= (p.Pro930=)
n.2968C=
n.2948C=
c.2440C= (p.Pro814=)
n.2933C=
20g.3228392G>TCA408085245SLC4A11c.2425C>A (p.Pro809Thr)
c.2356C>A (p.Pro786Thr)
c.2260-36C>A (n.2260-36C>A)
c.2311C>A (p.Pro771Thr)
c.2473C>A (p.Pro825Thr)
c.2554C>A (p.Pro852Thr)
c.*573C>A (n.*573C>A)
c.2794C>A (p.Pro932Thr)
c.2368C>A (p.Pro790Thr)
c.2392C>A (p.Pro798Thr)
n.2523C>A
c.2788C>A (p.Pro930Thr)
n.2968C>A
n.2948C>A
c.2440C>A (p.Pro814Thr)
n.2933C>A
20g.3228393C>ACA509557688SLC4A11c.2424G>T (p.Val808=)
c.2355G>T (p.Val785=)
c.2260-37G>T (n.2260-37G>T)
c.2310G>T (p.Val770=)
c.2472G>T (p.Val824=)
c.2553G>T (p.Val851=)
c.*572G>T (n.*572G>T)
c.2793G>T (p.Val931=)
c.2367G>T (p.Val789=)
c.2391G>T (p.Val797=)
n.2522G>T
c.2787G>T (p.Val929=)
n.2967G>T
n.2947G>T
c.2439G>T (p.Val813=)
n.2932G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228393C=CA2346474967SLC4A11c.2424G= (p.Val808=)
c.2355G= (p.Val785=)
c.2260-37G= (n.2260-37G=)
c.2310G= (p.Val770=)
c.2472G= (p.Val824=)
c.2553G= (p.Val851=)
c.*572G= (n.*572G=)
c.2793G= (p.Val931=)
c.2367G= (p.Val789=)
c.2391G= (p.Val797=)
n.2522G=
c.2787G= (p.Val929=)
n.2967G=
n.2947G=
c.2439G= (p.Val813=)
n.2932G=
20g.3228393C>GCA509557690SLC4A11c.2424G>C (p.Val808=)
c.2355G>C (p.Val785=)
c.2260-37G>C (n.2260-37G>C)
c.2310G>C (p.Val770=)
c.2472G>C (p.Val824=)
c.2553G>C (p.Val851=)
c.*572G>C (n.*572G>C)
c.2793G>C (p.Val931=)
c.2367G>C (p.Val789=)
c.2391G>C (p.Val797=)
n.2522G>C
c.2787G>C (p.Val929=)
n.2967G>C
n.2947G>C
c.2439G>C (p.Val813=)
n.2932G>C
20g.3228393C>TCA509557689SLC4A11c.2424G>A (p.Val808=)
c.2355G>A (p.Val785=)
c.2260-37G>A (n.2260-37G>A)
c.2310G>A (p.Val770=)
c.2472G>A (p.Val824=)
c.2553G>A (p.Val851=)
c.*572G>A (n.*572G>A)
c.2793G>A (p.Val931=)
c.2367G>A (p.Val789=)
c.2391G>A (p.Val797=)
n.2522G>A
c.2787G>A (p.Val929=)
n.2967G>A
n.2947G>A
c.2439G>A (p.Val813=)
n.2932G>A
20g.3228394A=CA2346474968SLC4A11c.2423T= (p.Val808=)
c.2354T= (p.Val785=)
c.2260-38T= (n.2260-38T=)
c.2309T= (p.Val770=)
c.2471T= (p.Val824=)
c.2552T= (p.Val851=)
c.*571T= (n.*571T=)
c.2792T= (p.Val931=)
c.2366T= (p.Val789=)
c.2390T= (p.Val797=)
n.2521T=
c.2786T= (p.Val929=)
n.2966T=
n.2946T=
c.2438T= (p.Val813=)
n.2931T=
20g.3228394A>CCA408085248SLC4A11c.2423T>G (p.Val808Gly)
c.2354T>G (p.Val785Gly)
c.2260-38T>G (n.2260-38T>G)
c.2309T>G (p.Val770Gly)
c.2471T>G (p.Val824Gly)
c.2552T>G (p.Val851Gly)
c.*571T>G (n.*571T>G)
c.2792T>G (p.Val931Gly)
c.2366T>G (p.Val789Gly)
c.2390T>G (p.Val797Gly)
n.2521T>G
c.2786T>G (p.Val929Gly)
n.2966T>G
n.2946T>G
c.2438T>G (p.Val813Gly)
n.2931T>G
20g.3228394A>GCA408085252SLC4A11c.2423T>C (p.Val808Ala)
c.2354T>C (p.Val785Ala)
c.2260-38T>C (n.2260-38T>C)
c.2309T>C (p.Val770Ala)
c.2471T>C (p.Val824Ala)
c.2552T>C (p.Val851Ala)
c.*571T>C (n.*571T>C)
c.2792T>C (p.Val931Ala)
c.2366T>C (p.Val789Ala)
c.2390T>C (p.Val797Ala)
n.2521T>C
c.2786T>C (p.Val929Ala)
n.2966T>C
n.2946T>C
c.2438T>C (p.Val813Ala)
n.2931T>C
 dbSNP
20g.3228394A>TCA408085251SLC4A11c.2423T>A (p.Val808Glu)
c.2354T>A (p.Val785Glu)
c.2260-38T>A (n.2260-38T>A)
c.2309T>A (p.Val770Glu)
c.2471T>A (p.Val824Glu)
c.2552T>A (p.Val851Glu)
c.*571T>A (n.*571T>A)
c.2792T>A (p.Val931Glu)
c.2366T>A (p.Val789Glu)
c.2390T>A (p.Val797Glu)
n.2521T>A
c.2786T>A (p.Val929Glu)
n.2966T>A
n.2946T>A
c.2438T>A (p.Val813Glu)
n.2931T>A
20g.3228395C>ACA408085255SLC4A11c.2422G>T (p.Val808Leu)
c.2353G>T (p.Val785Leu)
c.2260-39G>T (n.2260-39G>T)
c.2308G>T (p.Val770Leu)
c.2470G>T (p.Val824Leu)
c.2551G>T (p.Val851Leu)
c.*570G>T (n.*570G>T)
c.2791G>T (p.Val931Leu)
c.2365G>T (p.Val789Leu)
c.2389G>T (p.Val797Leu)
n.2520G>T
c.2785G>T (p.Val929Leu)
n.2965G>T
n.2945G>T
c.2437G>T (p.Val813Leu)
n.2930G>T
20g.3228395C=CA2346474969SLC4A11c.2422G= (p.Val808=)
c.2353G= (p.Val785=)
c.2260-39G= (n.2260-39G=)
c.2308G= (p.Val770=)
c.2470G= (p.Val824=)
c.2551G= (p.Val851=)
c.*570G= (n.*570G=)
c.2791G= (p.Val931=)
c.2365G= (p.Val789=)
c.2389G= (p.Val797=)
n.2520G=
c.2785G= (p.Val929=)
n.2965G=
n.2945G=
c.2437G= (p.Val813=)
n.2930G=
20g.3228395C>GCA408085256SLC4A11c.2422G>C (p.Val808Leu)
c.2353G>C (p.Val785Leu)
c.2260-39G>C (n.2260-39G>C)
c.2308G>C (p.Val770Leu)
c.2470G>C (p.Val824Leu)
c.2551G>C (p.Val851Leu)
c.*570G>C (n.*570G>C)
c.2791G>C (p.Val931Leu)
c.2365G>C (p.Val789Leu)
c.2389G>C (p.Val797Leu)
n.2520G>C
c.2785G>C (p.Val929Leu)
n.2965G>C
n.2945G>C
c.2437G>C (p.Val813Leu)
n.2930G>C
20g.3228395C>TCA9741459SLC4A11c.2422G>A (p.Val808Met)
c.2353G>A (p.Val785Met)
c.2260-39G>A (n.2260-39G>A)
c.2308G>A (p.Val770Met)
c.2470G>A (p.Val824Met)
c.2551G>A (p.Val851Met)
c.*570G>A (n.*570G>A)
c.2791G>A (p.Val931Met)
c.2365G>A (p.Val789Met)
c.2389G>A (p.Val797Met)
n.2520G>A
c.2785G>A (p.Val929Met)
n.2965G>A
n.2945G>A
c.2437G>A (p.Val813Met)
n.2930G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.3228396C>ACA408085259SLC4A11c.2421G>T (p.Arg807Ser)
c.2352G>T (p.Arg784Ser)
c.2260-40G>T (n.2260-40G>T)
c.2307G>T (p.Arg769Ser)
c.2469G>T (p.Arg823Ser)
c.2550G>T (p.Arg850Ser)
c.*569G>T (n.*569G>T)
c.2790G>T (p.Arg930Ser)
c.2364G>T (p.Arg788Ser)
c.2388G>T (p.Arg796Ser)
n.2519G>T
c.2784G>T (p.Arg928Ser)
n.2964G>T
n.2944G>T
c.2436G>T (p.Arg812Ser)
n.2929G>T
20g.3228396C>GCA408085261SLC4A11c.2421G>C (p.Arg807Ser)
c.2352G>C (p.Arg784Ser)
c.2260-40G>C (n.2260-40G>C)
c.2307G>C (p.Arg769Ser)
c.2469G>C (p.Arg823Ser)
c.2550G>C (p.Arg850Ser)
c.*569G>C (n.*569G>C)
c.2790G>C (p.Arg930Ser)
c.2364G>C (p.Arg788Ser)
c.2388G>C (p.Arg796Ser)
n.2519G>C
c.2784G>C (p.Arg928Ser)
n.2964G>C
n.2944G>C
c.2436G>C (p.Arg812Ser)
n.2929G>C
20g.3228396C>TCA509557691SLC4A11c.2421G>A (p.Arg807=)
c.2352G>A (p.Arg784=)
c.2260-40G>A (n.2260-40G>A)
c.2307G>A (p.Arg769=)
c.2469G>A (p.Arg823=)
c.2550G>A (p.Arg850=)
c.*569G>A (n.*569G>A)
c.2790G>A (p.Arg930=)
c.2364G>A (p.Arg788=)
c.2388G>A (p.Arg796=)
n.2519G>A
c.2784G>A (p.Arg928=)
n.2964G>A
n.2944G>A
c.2436G>A (p.Arg812=)
n.2929G>A
 dbSNP
20g.3228397C>ACA408085264SLC4A11c.2420G>T (p.Arg807Met)
c.2351G>T (p.Arg784Met)
c.2260-41G>T (n.2260-41G>T)
c.2306G>T (p.Arg769Met)
c.2468G>T (p.Arg823Met)
c.2549G>T (p.Arg850Met)
c.*568G>T (n.*568G>T)
c.2789G>T (p.Arg930Met)
c.2363G>T (p.Arg788Met)
c.2387G>T (p.Arg796Met)
n.2518G>T
c.2783G>T (p.Arg928Met)
n.2963G>T
n.2943G>T
c.2435G>T (p.Arg812Met)
n.2928G>T
 dbSNP
20g.3228397C=CA2346474970SLC4A11c.2420G= (p.Arg807=)
c.2351G= (p.Arg784=)
c.2260-41G= (n.2260-41G=)
c.2306G= (p.Arg769=)
c.2468G= (p.Arg823=)
c.2549G= (p.Arg850=)
c.*568G= (n.*568G=)
c.2789G= (p.Arg930=)
c.2363G= (p.Arg788=)
c.2387G= (p.Arg796=)
n.2518G=
c.2783G= (p.Arg928=)
n.2963G=
n.2943G=
c.2435G= (p.Arg812=)
n.2928G=
20g.3228397C>GCA408085266SLC4A11c.2420G>C (p.Arg807Thr)
c.2351G>C (p.Arg784Thr)
c.2260-41G>C (n.2260-41G>C)
c.2306G>C (p.Arg769Thr)
c.2468G>C (p.Arg823Thr)
c.2549G>C (p.Arg850Thr)
c.*568G>C (n.*568G>C)
c.2789G>C (p.Arg930Thr)
c.2363G>C (p.Arg788Thr)
c.2387G>C (p.Arg796Thr)
n.2518G>C
c.2783G>C (p.Arg928Thr)
n.2963G>C
n.2943G>C
c.2435G>C (p.Arg812Thr)
n.2928G>C
20g.3228397C>TCA408085267SLC4A11c.2420G>A (p.Arg807Lys)
c.2351G>A (p.Arg784Lys)
c.2260-41G>A (n.2260-41G>A)
c.2306G>A (p.Arg769Lys)
c.2468G>A (p.Arg823Lys)
c.2549G>A (p.Arg850Lys)
c.*568G>A (n.*568G>A)
c.2789G>A (p.Arg930Lys)
c.2363G>A (p.Arg788Lys)
c.2387G>A (p.Arg796Lys)
n.2518G>A
c.2783G>A (p.Arg928Lys)
n.2963G>A
n.2943G>A
c.2435G>A (p.Arg812Lys)
n.2928G>A
 COSMIC COSMIC
20g.3228398T>ACA408085270SLC4A11c.2419A>T (p.Arg807Trp)
c.2350A>T (p.Arg784Trp)
c.2260-42A>T (n.2260-42A>T)
c.2305A>T (p.Arg769Trp)
c.2467A>T (p.Arg823Trp)
c.2548A>T (p.Arg850Trp)
c.*567A>T (n.*567A>T)
c.2788A>T (p.Arg930Trp)
c.2362A>T (p.Arg788Trp)
c.2386A>T (p.Arg796Trp)
n.2517A>T
c.2782A>T (p.Arg928Trp)
n.2962A>T
n.2942A>T
c.2434A>T (p.Arg812Trp)
n.2927A>T
20g.3228398T>CCA408085273SLC4A11c.2419A>G (p.Arg807Gly)
c.2350A>G (p.Arg784Gly)
c.2260-42A>G (n.2260-42A>G)
c.2305A>G (p.Arg769Gly)
c.2467A>G (p.Arg823Gly)
c.2548A>G (p.Arg850Gly)
c.*567A>G (n.*567A>G)
c.2788A>G (p.Arg930Gly)
c.2362A>G (p.Arg788Gly)
c.2386A>G (p.Arg796Gly)
n.2517A>G
c.2782A>G (p.Arg928Gly)
n.2962A>G
n.2942A>G
c.2434A>G (p.Arg812Gly)
n.2927A>G
20g.3228398T>GCA509557692SLC4A11c.2419A>C (p.Arg807=)
c.2350A>C (p.Arg784=)
c.2260-42A>C (n.2260-42A>C)
c.2305A>C (p.Arg769=)
c.2467A>C (p.Arg823=)
c.2548A>C (p.Arg850=)
c.*567A>C (n.*567A>C)
c.2788A>C (p.Arg930=)
c.2362A>C (p.Arg788=)
c.2386A>C (p.Arg796=)
n.2517A>C
c.2782A>C (p.Arg928=)
n.2962A>C
n.2942A>C
c.2434A>C (p.Arg812=)
n.2927A>C
20g.3228399C>ACA509557693SLC4A11c.2418G>T (p.Arg806=)
c.2349G>T (p.Arg783=)
c.2260-43G>T (n.2260-43G>T)
c.2304G>T (p.Arg768=)
c.2466G>T (p.Arg822=)
c.2547G>T (p.Arg849=)
c.*566G>T (n.*566G>T)
c.2787G>T (p.Arg929=)
c.2361G>T (p.Arg787=)
c.2385G>T (p.Arg795=)
n.2516G>T
c.2781G>T (p.Arg927=)
n.2961G>T
n.2941G>T
c.2433G>T (p.Arg811=)
n.2926G>T
20g.3228399C>GCA509557694SLC4A11c.2418G>C (p.Arg806=)
c.2349G>C (p.Arg783=)
c.2260-43G>C (n.2260-43G>C)
c.2304G>C (p.Arg768=)
c.2466G>C (p.Arg822=)
c.2547G>C (p.Arg849=)
c.*566G>C (n.*566G>C)
c.2787G>C (p.Arg929=)
c.2361G>C (p.Arg787=)
c.2385G>C (p.Arg795=)
n.2516G>C
c.2781G>C (p.Arg927=)
n.2961G>C
n.2941G>C
c.2433G>C (p.Arg811=)
n.2926G>C
20g.3228399C>TCA509557695SLC4A11c.2418G>A (p.Arg806=)
c.2349G>A (p.Arg783=)
c.2260-43G>A (n.2260-43G>A)
c.2304G>A (p.Arg768=)
c.2466G>A (p.Arg822=)
c.2547G>A (p.Arg849=)
c.*566G>A (n.*566G>A)
c.2787G>A (p.Arg929=)
c.2361G>A (p.Arg787=)
c.2385G>A (p.Arg795=)
n.2516G>A
c.2781G>A (p.Arg927=)
n.2961G>A
n.2941G>A
c.2433G>A (p.Arg811=)
n.2926G>A
20g.3228400delCA2651691200SLC4A11c.2418del (p.Arg807GlyfsTer26)
c.2349del (p.Arg784GlyfsTer26)
c.2260-43del (n.2260-43del)
c.2304del (p.Arg769GlyfsTer26)
c.2466del (p.Arg823GlyfsTer26)
c.2547del (p.Arg850GlyfsTer26)
c.*566del (n.*566del)
c.2787del (p.Arg930GlyfsTer26)
c.2361del (p.Arg788GlyfsTer26)
c.2385del (p.Arg796GlyfsTer26)
n.2516del
c.2781del (p.Arg928GlyfsTer26)
n.2961del
n.2941del
c.2433del (p.Arg812GlyfsTer26)
n.2926del
 gnomAD v4
20g.3228400C>ACA408085277SLC4A11c.2417G>T (p.Arg806Leu)
c.2348G>T (p.Arg783Leu)
c.2260-44G>T (n.2260-44G>T)
c.2303G>T (p.Arg768Leu)
c.2465G>T (p.Arg822Leu)
c.2546G>T (p.Arg849Leu)
c.*565G>T (n.*565G>T)
c.2786G>T (p.Arg929Leu)
c.2360G>T (p.Arg787Leu)
c.2384G>T (p.Arg795Leu)
n.2515G>T
c.2780G>T (p.Arg927Leu)
n.2960G>T
n.2940G>T
c.2432G>T (p.Arg811Leu)
n.2925G>T
20g.3228400C=CA2346474971SLC4A11c.2417G= (p.Arg806=)
c.2348G= (p.Arg783=)
c.2260-44G= (n.2260-44G=)
c.2303G= (p.Arg768=)
c.2465G= (p.Arg822=)
c.2546G= (p.Arg849=)
c.*565G= (n.*565G=)
c.2786G= (p.Arg929=)
c.2360G= (p.Arg787=)
c.2384G= (p.Arg795=)
n.2515G=
c.2780G= (p.Arg927=)
n.2960G=
n.2940G=
c.2432G= (p.Arg811=)
n.2925G=
20g.3228400C>GCA408085278SLC4A11c.2417G>C (p.Arg806Pro)
c.2348G>C (p.Arg783Pro)
c.2260-44G>C (n.2260-44G>C)
c.2303G>C (p.Arg768Pro)
c.2465G>C (p.Arg822Pro)
c.2546G>C (p.Arg849Pro)
c.*565G>C (n.*565G>C)
c.2786G>C (p.Arg929Pro)
c.2360G>C (p.Arg787Pro)
c.2384G>C (p.Arg795Pro)
n.2515G>C
c.2780G>C (p.Arg927Pro)
n.2960G>C
n.2940G>C
c.2432G>C (p.Arg811Pro)
n.2925G>C
20g.3228400C>TCA408085276SLC4A11c.2417G>A (p.Arg806Gln)
c.2348G>A (p.Arg783Gln)
c.2260-44G>A (n.2260-44G>A)
c.2303G>A (p.Arg768Gln)
c.2465G>A (p.Arg822Gln)
c.2546G>A (p.Arg849Gln)
c.*565G>A (n.*565G>A)
c.2786G>A (p.Arg929Gln)
c.2360G>A (p.Arg787Gln)
c.2384G>A (p.Arg795Gln)
n.2515G>A
c.2780G>A (p.Arg927Gln)
n.2960G>A
n.2940G>A
c.2432G>A (p.Arg811Gln)
n.2925G>A
 dbSNP gnomAD v3 gnomAD v4
20g.3228401G>ACA9741460SLC4A11c.2416C>T (p.Arg806Trp)
c.2347C>T (p.Arg783Trp)
c.2260-45C>T (n.2260-45C>T)
c.2302C>T (p.Arg768Trp)
c.2464C>T (p.Arg822Trp)
c.2545C>T (p.Arg849Trp)
c.*564C>T (n.*564C>T)
c.2785C>T (p.Arg929Trp)
c.2359C>T (p.Arg787Trp)
c.2383C>T (p.Arg795Trp)
n.2514C>T
c.2779C>T (p.Arg927Trp)
n.2959C>T
n.2939C>T
c.2431C>T (p.Arg811Trp)
n.2924C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228401G>CCA408085282SLC4A11c.2416C>G (p.Arg806Gly)
c.2347C>G (p.Arg783Gly)
c.2260-45C>G (n.2260-45C>G)
c.2302C>G (p.Arg768Gly)
c.2464C>G (p.Arg822Gly)
c.2545C>G (p.Arg849Gly)
c.*564C>G (n.*564C>G)
c.2785C>G (p.Arg929Gly)
c.2359C>G (p.Arg787Gly)
c.2383C>G (p.Arg795Gly)
n.2514C>G
c.2779C>G (p.Arg927Gly)
n.2959C>G
n.2939C>G
c.2431C>G (p.Arg811Gly)
n.2924C>G
 gnomAD v4 COSMIC COSMIC
20g.3228401G=CA2346474972SLC4A11c.2416C= (p.Arg806=)
c.2347C= (p.Arg783=)
c.2260-45C= (n.2260-45C=)
c.2302C= (p.Arg768=)
c.2464C= (p.Arg822=)
c.2545C= (p.Arg849=)
c.*564C= (n.*564C=)
c.2785C= (p.Arg929=)
c.2359C= (p.Arg787=)
c.2383C= (p.Arg795=)
n.2514C=
c.2779C= (p.Arg927=)
n.2959C=
n.2939C=
c.2431C= (p.Arg811=)
n.2924C=
20g.3228401G>TCA509557696SLC4A11c.2416C>A (p.Arg806=)
c.2347C>A (p.Arg783=)
c.2260-45C>A (n.2260-45C>A)
c.2302C>A (p.Arg768=)
c.2464C>A (p.Arg822=)
c.2545C>A (p.Arg849=)
c.*564C>A (n.*564C>A)
c.2785C>A (p.Arg929=)
c.2359C>A (p.Arg787=)
c.2383C>A (p.Arg795=)
n.2514C>A
c.2779C>A (p.Arg927=)
n.2959C>A
n.2939C>A
c.2431C>A (p.Arg811=)
n.2924C>A
20g.3228402G>ACA509557697SLC4A11c.2415C>T (p.Ile805=)
c.2346C>T (p.Ile782=)
c.2260-46C>T (n.2260-46C>T)
c.2301C>T (p.Ile767=)
c.2463C>T (p.Ile821=)
c.2544C>T (p.Ile848=)
c.*563C>T (n.*563C>T)
c.2784C>T (p.Ile928=)
c.2358C>T (p.Ile786=)
c.2382C>T (p.Ile794=)
n.2513C>T
c.2778C>T (p.Ile926=)
n.2958C>T
n.2938C>T
c.2430C>T (p.Ile810=)
n.2923C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228402G>CCA408085284SLC4A11c.2415C>G (p.Ile805Met)
c.2346C>G (p.Ile782Met)
c.2260-46C>G (n.2260-46C>G)
c.2301C>G (p.Ile767Met)
c.2463C>G (p.Ile821Met)
c.2544C>G (p.Ile848Met)
c.*563C>G (n.*563C>G)
c.2784C>G (p.Ile928Met)
c.2358C>G (p.Ile786Met)
c.2382C>G (p.Ile794Met)
n.2513C>G
c.2778C>G (p.Ile926Met)
n.2958C>G
n.2938C>G
c.2430C>G (p.Ile810Met)
n.2923C>G
20g.3228402G=CA2346474973SLC4A11c.2415C= (p.Ile805=)
c.2346C= (p.Ile782=)
c.2260-46C= (n.2260-46C=)
c.2301C= (p.Ile767=)
c.2463C= (p.Ile821=)
c.2544C= (p.Ile848=)
c.*563C= (n.*563C=)
c.2784C= (p.Ile928=)
c.2358C= (p.Ile786=)
c.2382C= (p.Ile794=)
n.2513C=
c.2778C= (p.Ile926=)
n.2958C=
n.2938C=
c.2430C= (p.Ile810=)
n.2923C=
20g.3228402G>TCA509557698SLC4A11c.2415C>A (p.Ile805=)
c.2346C>A (p.Ile782=)
c.2260-46C>A (n.2260-46C>A)
c.2301C>A (p.Ile767=)
c.2463C>A (p.Ile821=)
c.2544C>A (p.Ile848=)
c.*563C>A (n.*563C>A)
c.2784C>A (p.Ile928=)
c.2358C>A (p.Ile786=)
c.2382C>A (p.Ile794=)
n.2513C>A
c.2778C>A (p.Ile926=)
n.2958C>A
n.2938C>A
c.2430C>A (p.Ile810=)
n.2923C>A
20g.3228403A>CCA408085294SLC4A11c.2414T>G (p.Ile805Ser)
c.2345T>G (p.Ile782Ser)
c.2260-47T>G (n.2260-47T>G)
c.2300T>G (p.Ile767Ser)
c.2462T>G (p.Ile821Ser)
c.2543T>G (p.Ile848Ser)
c.*562T>G (n.*562T>G)
c.2783T>G (p.Ile928Ser)
c.2357T>G (p.Ile786Ser)
c.2381T>G (p.Ile794Ser)
n.2512T>G
c.2777T>G (p.Ile926Ser)
n.2957T>G
n.2937T>G
c.2429T>G (p.Ile810Ser)
n.2922T>G
 gnomAD v4
20g.3228403A>GCA408085296SLC4A11c.2414T>C (p.Ile805Thr)
c.2345T>C (p.Ile782Thr)
c.2260-47T>C (n.2260-47T>C)
c.2300T>C (p.Ile767Thr)
c.2462T>C (p.Ile821Thr)
c.2543T>C (p.Ile848Thr)
c.*562T>C (n.*562T>C)
c.2783T>C (p.Ile928Thr)
c.2357T>C (p.Ile786Thr)
c.2381T>C (p.Ile794Thr)
n.2512T>C
c.2777T>C (p.Ile926Thr)
n.2957T>C
n.2937T>C
c.2429T>C (p.Ile810Thr)
n.2922T>C
20g.3228403A>TCA408085299SLC4A11c.2414T>A (p.Ile805Asn)
c.2345T>A (p.Ile782Asn)
c.2260-47T>A (n.2260-47T>A)
c.2300T>A (p.Ile767Asn)
c.2462T>A (p.Ile821Asn)
c.2543T>A (p.Ile848Asn)
c.*562T>A (n.*562T>A)
c.2783T>A (p.Ile928Asn)
c.2357T>A (p.Ile786Asn)
c.2381T>A (p.Ile794Asn)
n.2512T>A
c.2777T>A (p.Ile926Asn)
n.2957T>A
n.2937T>A
c.2429T>A (p.Ile810Asn)
n.2922T>A
20g.3228404T>ACA408085309SLC4A11c.2413A>T (p.Ile805Phe)
c.2344A>T (p.Ile782Phe)
c.2260-48A>T (n.2260-48A>T)
c.2299A>T (p.Ile767Phe)
c.2461A>T (p.Ile821Phe)
c.2542A>T (p.Ile848Phe)
c.*561A>T (n.*561A>T)
c.2782A>T (p.Ile928Phe)
c.2356A>T (p.Ile786Phe)
c.2380A>T (p.Ile794Phe)
n.2511A>T
c.2776A>T (p.Ile926Phe)
n.2956A>T
n.2936A>T
c.2428A>T (p.Ile810Phe)
n.2921A>T
20g.3228404T>CCA9741461SLC4A11c.2413A>G (p.Ile805Val)
c.2344A>G (p.Ile782Val)
c.2260-48A>G (n.2260-48A>G)
c.2299A>G (p.Ile767Val)
c.2461A>G (p.Ile821Val)
c.2542A>G (p.Ile848Val)
c.*561A>G (n.*561A>G)
c.2782A>G (p.Ile928Val)
c.2356A>G (p.Ile786Val)
c.2380A>G (p.Ile794Val)
n.2511A>G
c.2776A>G (p.Ile926Val)
n.2956A>G
n.2936A>G
c.2428A>G (p.Ile810Val)
n.2921A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228404T>GCA408085304SLC4A11c.2413A>C (p.Ile805Leu)
c.2344A>C (p.Ile782Leu)
c.2260-48A>C (n.2260-48A>C)
c.2299A>C (p.Ile767Leu)
c.2461A>C (p.Ile821Leu)
c.2542A>C (p.Ile848Leu)
c.*561A>C (n.*561A>C)
c.2782A>C (p.Ile928Leu)
c.2356A>C (p.Ile786Leu)
c.2380A>C (p.Ile794Leu)
n.2511A>C
c.2776A>C (p.Ile926Leu)
n.2956A>C
n.2936A>C
c.2428A>C (p.Ile810Leu)
n.2921A>C
20g.3228404T=CA2346474974SLC4A11c.2413A= (p.Ile805=)
c.2344A= (p.Ile782=)
c.2260-48A= (n.2260-48A=)
c.2299A= (p.Ile767=)
c.2461A= (p.Ile821=)
c.2542A= (p.Ile848=)
c.*561A= (n.*561A=)
c.2782A= (p.Ile928=)
c.2356A= (p.Ile786=)
c.2380A= (p.Ile794=)
n.2511A=
c.2776A= (p.Ile926=)
n.2956A=
n.2936A=
c.2428A= (p.Ile810=)
n.2921A=
20g.3228405G>ACA310984858SLC4A11c.2412C>T (p.Tyr804=)
c.2343C>T (p.Tyr781=)
c.2260-49C>T (n.2260-49C>T)
c.2298C>T (p.Tyr766=)
c.2460C>T (p.Tyr820=)
c.2541C>T (p.Tyr847=)
c.*560C>T (n.*560C>T)
c.2781C>T (p.Tyr927=)
c.2355C>T (p.Tyr785=)
c.2379C>T (p.Tyr793=)
n.2510C>T
c.2775C>T (p.Tyr925=)
n.2955C>T
n.2935C>T
c.2427C>T (p.Tyr809=)
n.2920C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228405G>CCA408085312SLC4A11c.2412C>G (p.Tyr804Ter)
c.2343C>G (p.Tyr781Ter)
c.2260-49C>G (n.2260-49C>G)
c.2298C>G (p.Tyr766Ter)
c.2460C>G (p.Tyr820Ter)
c.2541C>G (p.Tyr847Ter)
c.*560C>G (n.*560C>G)
c.2781C>G (p.Tyr927Ter)
c.2355C>G (p.Tyr785Ter)
c.2379C>G (p.Tyr793Ter)
n.2510C>G
c.2775C>G (p.Tyr925Ter)
n.2955C>G
n.2935C>G
c.2427C>G (p.Tyr809Ter)
n.2920C>G
20g.3228405G=CA2346474975SLC4A11c.2412C= (p.Tyr804=)
c.2343C= (p.Tyr781=)
c.2260-49C= (n.2260-49C=)
c.2298C= (p.Tyr766=)
c.2460C= (p.Tyr820=)
c.2541C= (p.Tyr847=)
c.*560C= (n.*560C=)
c.2781C= (p.Tyr927=)
c.2355C= (p.Tyr785=)
c.2379C= (p.Tyr793=)
n.2510C=
c.2775C= (p.Tyr925=)
n.2955C=
n.2935C=
c.2427C= (p.Tyr809=)
n.2920C=
20g.3228405G>TCA408085314SLC4A11c.2412C>A (p.Tyr804Ter)
c.2343C>A (p.Tyr781Ter)
c.2260-49C>A (n.2260-49C>A)
c.2298C>A (p.Tyr766Ter)
c.2460C>A (p.Tyr820Ter)
c.2541C>A (p.Tyr847Ter)
c.*560C>A (n.*560C>A)
c.2781C>A (p.Tyr927Ter)
c.2355C>A (p.Tyr785Ter)
c.2379C>A (p.Tyr793Ter)
n.2510C>A
c.2775C>A (p.Tyr925Ter)
n.2955C>A
n.2935C>A
c.2427C>A (p.Tyr809Ter)
n.2920C>A
20g.3228406_3228424delCA2573332476SLC4A11c.2394_2412del (p.Tyr799SerfsTer28)
c.2325_2343del (p.Tyr776SerfsTer28)
c.2260-67_2260-49del (n.2260-67_2260-49del)
c.2280_2298del (p.Tyr761SerfsTer28)
c.2442_2460del (p.Tyr815SerfsTer28)
c.2523_2541del (p.Tyr842SerfsTer28)
c.*542_*560del (n.*542_*560del)
c.2763_2781del (p.Tyr922SerfsTer28)
c.2337_2355del (p.Tyr780SerfsTer28)
c.2361_2379del (p.Tyr788SerfsTer28)
n.2492_2510del
c.2757_2775del (p.Tyr920SerfsTer28)
n.2937_2955del
n.2917_2935del
c.2409_2427del (p.Tyr804SerfsTer28)
n.2902_2920del
 gnomAD v4
20g.3228406T>ACA408085318SLC4A11c.2411A>T (p.Tyr804Phe)
c.2342A>T (p.Tyr781Phe)
c.2260-50A>T (n.2260-50A>T)
c.2297A>T (p.Tyr766Phe)
c.2459A>T (p.Tyr820Phe)
c.2540A>T (p.Tyr847Phe)
c.*559A>T (n.*559A>T)
c.2780A>T (p.Tyr927Phe)
c.2354A>T (p.Tyr785Phe)
c.2378A>T (p.Tyr793Phe)
n.2509A>T
c.2774A>T (p.Tyr925Phe)
n.2954A>T
n.2934A>T
c.2426A>T (p.Tyr809Phe)
n.2919A>T
20g.3228406T>CCA408085321SLC4A11c.2411A>G (p.Tyr804Cys)
c.2342A>G (p.Tyr781Cys)
c.2260-50A>G (n.2260-50A>G)
c.2297A>G (p.Tyr766Cys)
c.2459A>G (p.Tyr820Cys)
c.2540A>G (p.Tyr847Cys)
c.*559A>G (n.*559A>G)
c.2780A>G (p.Tyr927Cys)
c.2354A>G (p.Tyr785Cys)
c.2378A>G (p.Tyr793Cys)
n.2509A>G
c.2774A>G (p.Tyr925Cys)
n.2954A>G
n.2934A>G
c.2426A>G (p.Tyr809Cys)
n.2919A>G
 dbSNP gnomAD v4
20g.3228406T>GCA408085322SLC4A11c.2411A>C (p.Tyr804Ser)
c.2342A>C (p.Tyr781Ser)
c.2260-50A>C (n.2260-50A>C)
c.2297A>C (p.Tyr766Ser)
c.2459A>C (p.Tyr820Ser)
c.2540A>C (p.Tyr847Ser)
c.*559A>C (n.*559A>C)
c.2780A>C (p.Tyr927Ser)
c.2354A>C (p.Tyr785Ser)
c.2378A>C (p.Tyr793Ser)
n.2509A>C
c.2774A>C (p.Tyr925Ser)
n.2954A>C
n.2934A>C
c.2426A>C (p.Tyr809Ser)
n.2919A>C
20g.3228406T=CA2346474976SLC4A11c.2411A= (p.Tyr804=)
c.2342A= (p.Tyr781=)
c.2260-50A= (n.2260-50A=)
c.2297A= (p.Tyr766=)
c.2459A= (p.Tyr820=)
c.2540A= (p.Tyr847=)
c.*559A= (n.*559A=)
c.2780A= (p.Tyr927=)
c.2354A= (p.Tyr785=)
c.2378A= (p.Tyr793=)
n.2509A=
c.2774A= (p.Tyr925=)
n.2954A=
n.2934A=
c.2426A= (p.Tyr809=)
n.2919A=
20g.3228407A=CA2346474977SLC4A11c.2410T= (p.Tyr804=)
c.2341T= (p.Tyr781=)
c.2260-51T= (n.2260-51T=)
c.2296T= (p.Tyr766=)
c.2458T= (p.Tyr820=)
c.2539T= (p.Tyr847=)
c.*558T= (n.*558T=)
c.2779T= (p.Tyr927=)
c.2353T= (p.Tyr785=)
c.2377T= (p.Tyr793=)
n.2508T=
c.2773T= (p.Tyr925=)
n.2953T=
n.2933T=
c.2425T= (p.Tyr809=)
n.2918T=
20g.3228407A>CCA408085327SLC4A11c.2410T>G (p.Tyr804Asp)
c.2341T>G (p.Tyr781Asp)
c.2260-51T>G (n.2260-51T>G)
c.2296T>G (p.Tyr766Asp)
c.2458T>G (p.Tyr820Asp)
c.2539T>G (p.Tyr847Asp)
c.*558T>G (n.*558T>G)
c.2779T>G (p.Tyr927Asp)
c.2353T>G (p.Tyr785Asp)
c.2377T>G (p.Tyr793Asp)
n.2508T>G
c.2773T>G (p.Tyr925Asp)
n.2953T>G
n.2933T>G
c.2425T>G (p.Tyr809Asp)
n.2918T>G
20g.3228407A>GCA9741462SLC4A11c.2410T>C (p.Tyr804His)
c.2341T>C (p.Tyr781His)
c.2260-51T>C (n.2260-51T>C)
c.2296T>C (p.Tyr766His)
c.2458T>C (p.Tyr820His)
c.2539T>C (p.Tyr847His)
c.*558T>C (n.*558T>C)
c.2779T>C (p.Tyr927His)
c.2353T>C (p.Tyr785His)
c.2377T>C (p.Tyr793His)
n.2508T>C
c.2773T>C (p.Tyr925His)
n.2953T>C
n.2933T>C
c.2425T>C (p.Tyr809His)
n.2918T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228407A>TCA408085328SLC4A11c.2410T>A (p.Tyr804Asn)
c.2341T>A (p.Tyr781Asn)
c.2260-51T>A (n.2260-51T>A)
c.2296T>A (p.Tyr766Asn)
c.2458T>A (p.Tyr820Asn)
c.2539T>A (p.Tyr847Asn)
c.*558T>A (n.*558T>A)
c.2779T>A (p.Tyr927Asn)
c.2353T>A (p.Tyr785Asn)
c.2377T>A (p.Tyr793Asn)
n.2508T>A
c.2773T>A (p.Tyr925Asn)
n.2953T>A
n.2933T>A
c.2425T>A (p.Tyr809Asn)
n.2918T>A
20g.3228408G>ACA509557699SLC4A11c.2409C>T (p.His803=)
c.2340C>T (p.His780=)
c.2260-52C>T (n.2260-52C>T)
c.2295C>T (p.His765=)
c.2457C>T (p.His819=)
c.2538C>T (p.His846=)
c.*557C>T (n.*557C>T)
c.2778C>T (p.His926=)
c.2352C>T (p.His784=)
c.2376C>T (p.His792=)
n.2507C>T
c.2772C>T (p.His924=)
n.2952C>T
n.2932C>T
c.2424C>T (p.His808=)
n.2917C>T
 gnomAD v4
20g.3228408G>CCA408085337SLC4A11c.2409C>G (p.His803Gln)
c.2340C>G (p.His780Gln)
c.2260-52C>G (n.2260-52C>G)
c.2295C>G (p.His765Gln)
c.2457C>G (p.His819Gln)
c.2538C>G (p.His846Gln)
c.*557C>G (n.*557C>G)
c.2778C>G (p.His926Gln)
c.2352C>G (p.His784Gln)
c.2376C>G (p.His792Gln)
n.2507C>G
c.2772C>G (p.His924Gln)
n.2952C>G
n.2932C>G
c.2424C>G (p.His808Gln)
n.2917C>G
20g.3228408G>TCA408085340SLC4A11c.2409C>A (p.His803Gln)
c.2340C>A (p.His780Gln)
c.2260-52C>A (n.2260-52C>A)
c.2295C>A (p.His765Gln)
c.2457C>A (p.His819Gln)
c.2538C>A (p.His846Gln)
c.*557C>A (n.*557C>A)
c.2778C>A (p.His926Gln)
c.2352C>A (p.His784Gln)
c.2376C>A (p.His792Gln)
n.2507C>A
c.2772C>A (p.His924Gln)
n.2952C>A
n.2932C>A
c.2424C>A (p.His808Gln)
n.2917C>A
20g.3228409T>ACA408085341SLC4A11c.2408A>T (p.His803Leu)
c.2339A>T (p.His780Leu)
c.2260-53A>T (n.2260-53A>T)
c.2294A>T (p.His765Leu)
c.2456A>T (p.His819Leu)
c.2537A>T (p.His846Leu)
c.*556A>T (n.*556A>T)
c.2777A>T (p.His926Leu)
c.2351A>T (p.His784Leu)
c.2375A>T (p.His792Leu)
n.2506A>T
c.2771A>T (p.His924Leu)
n.2951A>T
n.2931A>T
c.2423A>T (p.His808Leu)
n.2916A>T
20g.3228409T>CCA408085342SLC4A11c.2408A>G (p.His803Arg)
c.2339A>G (p.His780Arg)
c.2260-53A>G (n.2260-53A>G)
c.2294A>G (p.His765Arg)
c.2456A>G (p.His819Arg)
c.2537A>G (p.His846Arg)
c.*556A>G (n.*556A>G)
c.2777A>G (p.His926Arg)
c.2351A>G (p.His784Arg)
c.2375A>G (p.His792Arg)
n.2506A>G
c.2771A>G (p.His924Arg)
n.2951A>G
n.2931A>G
c.2423A>G (p.His808Arg)
n.2916A>G
20g.3228409T>GCA408085345SLC4A11c.2408A>C (p.His803Pro)
c.2339A>C (p.His780Pro)
c.2260-53A>C (n.2260-53A>C)
c.2294A>C (p.His765Pro)
c.2456A>C (p.His819Pro)
c.2537A>C (p.His846Pro)
c.*556A>C (n.*556A>C)
c.2777A>C (p.His926Pro)
c.2351A>C (p.His784Pro)
c.2375A>C (p.His792Pro)
n.2506A>C
c.2771A>C (p.His924Pro)
n.2951A>C
n.2931A>C
c.2423A>C (p.His808Pro)
n.2916A>C
20g.3228410G>ACA408085350SLC4A11c.2407C>T (p.His803Tyr)
c.2338C>T (p.His780Tyr)
c.2260-54C>T (n.2260-54C>T)
c.2293C>T (p.His765Tyr)
c.2455C>T (p.His819Tyr)
c.2536C>T (p.His846Tyr)
c.*555C>T (n.*555C>T)
c.2776C>T (p.His926Tyr)
c.2350C>T (p.His784Tyr)
c.2374C>T (p.His792Tyr)
n.2505C>T
c.2770C>T (p.His924Tyr)
n.2950C>T
n.2930C>T
c.2422C>T (p.His808Tyr)
n.2915C>T
20g.3228410G>CCA408085352SLC4A11c.2407C>G (p.His803Asp)
c.2338C>G (p.His780Asp)
c.2260-54C>G (n.2260-54C>G)
c.2293C>G (p.His765Asp)
c.2455C>G (p.His819Asp)
c.2536C>G (p.His846Asp)
c.*555C>G (n.*555C>G)
c.2776C>G (p.His926Asp)
c.2350C>G (p.His784Asp)
c.2374C>G (p.His792Asp)
n.2505C>G
c.2770C>G (p.His924Asp)
n.2950C>G
n.2930C>G
c.2422C>G (p.His808Asp)
n.2915C>G
20g.3228410G>TCA408085354SLC4A11c.2407C>A (p.His803Asn)
c.2338C>A (p.His780Asn)
c.2260-54C>A (n.2260-54C>A)
c.2293C>A (p.His765Asn)
c.2455C>A (p.His819Asn)
c.2536C>A (p.His846Asn)
c.*555C>A (n.*555C>A)
c.2776C>A (p.His926Asn)
c.2350C>A (p.His784Asn)
c.2374C>A (p.His792Asn)
n.2505C>A
c.2770C>A (p.His924Asn)
n.2950C>A
n.2930C>A
c.2422C>A (p.His808Asn)
n.2915C>A
 gnomAD v4
20g.3228411T>ACA509557700SLC4A11c.2406A>T (p.Thr802=)
c.2337A>T (p.Thr779=)
c.2260-55A>T (n.2260-55A>T)
c.2292A>T (p.Thr764=)
c.2454A>T (p.Thr818=)
c.2535A>T (p.Thr845=)
c.*554A>T (n.*554A>T)
c.2775A>T (p.Thr925=)
c.2349A>T (p.Thr783=)
c.2373A>T (p.Thr791=)
n.2504A>T
c.2769A>T (p.Thr923=)
n.2949A>T
n.2929A>T
c.2421A>T (p.Thr807=)
n.2914A>T
20g.3228411T>CCA509557702SLC4A11c.2406A>G (p.Thr802=)
c.2337A>G (p.Thr779=)
c.2260-55A>G (n.2260-55A>G)
c.2292A>G (p.Thr764=)
c.2454A>G (p.Thr818=)
c.2535A>G (p.Thr845=)
c.*554A>G (n.*554A>G)
c.2775A>G (p.Thr925=)
c.2349A>G (p.Thr783=)
c.2373A>G (p.Thr791=)
n.2504A>G
c.2769A>G (p.Thr923=)
n.2949A>G
n.2929A>G
c.2421A>G (p.Thr807=)
n.2914A>G
20g.3228411T>GCA509557701SLC4A11c.2406A>C (p.Thr802=)
c.2337A>C (p.Thr779=)
c.2260-55A>C (n.2260-55A>C)
c.2292A>C (p.Thr764=)
c.2454A>C (p.Thr818=)
c.2535A>C (p.Thr845=)
c.*554A>C (n.*554A>C)
c.2775A>C (p.Thr925=)
c.2349A>C (p.Thr783=)
c.2373A>C (p.Thr791=)
n.2504A>C
c.2769A>C (p.Thr923=)
n.2949A>C
n.2929A>C
c.2421A>C (p.Thr807=)
n.2914A>C
 gnomAD v4
20g.3228411_3228525delCA2580101964SLC4A11c.2375_2406del
c.2306_2337del
c.2246_2260-55del
c.2261_2292del
c.2423_2454del
c.2504_2535del
c.*523_*554del
c.2744_2775del
c.2318_2349del
c.2342_2373del
n.2473_2504del
c.2738_2769del
n.2918_2949del
n.2898_2929del
c.2390_2421del
n.2883_2914del
20g.3228412G>ACA408085359SLC4A11c.2405C>T (p.Thr802Ile)
c.2336C>T (p.Thr779Ile)
c.2260-56C>T (n.2260-56C>T)
c.2291C>T (p.Thr764Ile)
c.2453C>T (p.Thr818Ile)
c.2534C>T (p.Thr845Ile)
c.*553C>T (n.*553C>T)
c.2774C>T (p.Thr925Ile)
c.2348C>T (p.Thr783Ile)
c.2372C>T (p.Thr791Ile)
n.2503C>T
c.2768C>T (p.Thr923Ile)
n.2948C>T
n.2928C>T
c.2420C>T (p.Thr807Ile)
n.2913C>T
20g.3228412G>CCA408085362SLC4A11c.2405C>G (p.Thr802Arg)
c.2336C>G (p.Thr779Arg)
c.2260-56C>G (n.2260-56C>G)
c.2291C>G (p.Thr764Arg)
c.2453C>G (p.Thr818Arg)
c.2534C>G (p.Thr845Arg)
c.*553C>G (n.*553C>G)
c.2774C>G (p.Thr925Arg)
c.2348C>G (p.Thr783Arg)
c.2372C>G (p.Thr791Arg)
n.2503C>G
c.2768C>G (p.Thr923Arg)
n.2948C>G
n.2928C>G
c.2420C>G (p.Thr807Arg)
n.2913C>G
 gnomAD v4
20g.3228412G>TCA408085365SLC4A11c.2405C>A (p.Thr802Lys)
c.2336C>A (p.Thr779Lys)
c.2260-56C>A (n.2260-56C>A)
c.2291C>A (p.Thr764Lys)
c.2453C>A (p.Thr818Lys)
c.2534C>A (p.Thr845Lys)
c.*553C>A (n.*553C>A)
c.2774C>A (p.Thr925Lys)
c.2348C>A (p.Thr783Lys)
c.2372C>A (p.Thr791Lys)
n.2503C>A
c.2768C>A (p.Thr923Lys)
n.2948C>A
n.2928C>A
c.2420C>A (p.Thr807Lys)
n.2913C>A
20g.3228413T>ACA408085374SLC4A11c.2404A>T (p.Thr802Ser)
c.2335A>T (p.Thr779Ser)
c.2260-57A>T (n.2260-57A>T)
c.2290A>T (p.Thr764Ser)
c.2452A>T (p.Thr818Ser)
c.2533A>T (p.Thr845Ser)
c.*552A>T (n.*552A>T)
c.2773A>T (p.Thr925Ser)
c.2347A>T (p.Thr783Ser)
c.2371A>T (p.Thr791Ser)
n.2502A>T
c.2767A>T (p.Thr923Ser)
n.2947A>T
n.2927A>T
c.2419A>T (p.Thr807Ser)
n.2912A>T
20g.3228413T>CCA408085372SLC4A11c.2404A>G (p.Thr802Ala)
c.2335A>G (p.Thr779Ala)
c.2260-57A>G (n.2260-57A>G)
c.2290A>G (p.Thr764Ala)
c.2452A>G (p.Thr818Ala)
c.2533A>G (p.Thr845Ala)
c.*552A>G (n.*552A>G)
c.2773A>G (p.Thr925Ala)
c.2347A>G (p.Thr783Ala)
c.2371A>G (p.Thr791Ala)
n.2502A>G
c.2767A>G (p.Thr923Ala)
n.2947A>G
n.2927A>G
c.2419A>G (p.Thr807Ala)
n.2912A>G
20g.3228413T>GCA408085369SLC4A11c.2404A>C (p.Thr802Pro)
c.2335A>C (p.Thr779Pro)
c.2260-57A>C (n.2260-57A>C)
c.2290A>C (p.Thr764Pro)
c.2452A>C (p.Thr818Pro)
c.2533A>C (p.Thr845Pro)
c.*552A>C (n.*552A>C)
c.2773A>C (p.Thr925Pro)
c.2347A>C (p.Thr783Pro)
c.2371A>C (p.Thr791Pro)
n.2502A>C
c.2767A>C (p.Thr923Pro)
n.2947A>C
n.2927A>C
c.2419A>C (p.Thr807Pro)
n.2912A>C
20g.3228414C>ACA509557703SLC4A11c.2403G>T (p.Pro801=)
c.2334G>T (p.Pro778=)
c.2260-58G>T (n.2260-58G>T)
c.2289G>T (p.Pro763=)
c.2451G>T (p.Pro817=)
c.2532G>T (p.Pro844=)
c.*551G>T (n.*551G>T)
c.2772G>T (p.Pro924=)
c.2346G>T (p.Pro782=)
c.2370G>T (p.Pro790=)
n.2501G>T
c.2766G>T (p.Pro922=)
n.2946G>T
n.2926G>T
c.2418G>T (p.Pro806=)
n.2911G>T
20g.3228414C=CA2346474978SLC4A11c.2403G= (p.Pro801=)
c.2334G= (p.Pro778=)
c.2260-58G= (n.2260-58G=)
c.2289G= (p.Pro763=)
c.2451G= (p.Pro817=)
c.2532G= (p.Pro844=)
c.*551G= (n.*551G=)
c.2772G= (p.Pro924=)
c.2346G= (p.Pro782=)
c.2370G= (p.Pro790=)
n.2501G=
c.2766G= (p.Pro922=)
n.2946G=
n.2926G=
c.2418G= (p.Pro806=)
n.2911G=
20g.3228414C>GCA509557704SLC4A11c.2403G>C (p.Pro801=)
c.2334G>C (p.Pro778=)
c.2260-58G>C (n.2260-58G>C)
c.2289G>C (p.Pro763=)
c.2451G>C (p.Pro817=)
c.2532G>C (p.Pro844=)
c.*551G>C (n.*551G>C)
c.2772G>C (p.Pro924=)
c.2346G>C (p.Pro782=)
c.2370G>C (p.Pro790=)
n.2501G>C
c.2766G>C (p.Pro922=)
n.2946G>C
n.2926G>C
c.2418G>C (p.Pro806=)
n.2911G>C
20g.3228414C>TCA9741463SLC4A11c.2403G>A (p.Pro801=)
c.2334G>A (p.Pro778=)
c.2260-58G>A (n.2260-58G>A)
c.2289G>A (p.Pro763=)
c.2451G>A (p.Pro817=)
c.2532G>A (p.Pro844=)
c.*551G>A (n.*551G>A)
c.2772G>A (p.Pro924=)
c.2346G>A (p.Pro782=)
c.2370G>A (p.Pro790=)
n.2501G>A
c.2766G>A (p.Pro922=)
n.2946G>A
n.2926G>A
c.2418G>A (p.Pro806=)
n.2911G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228415G>ACA408085386SLC4A11c.2402C>T (p.Pro801Leu)
c.2333C>T (p.Pro778Leu)
c.2260-59C>T (n.2260-59C>T)
c.2288C>T (p.Pro763Leu)
c.2450C>T (p.Pro817Leu)
c.2531C>T (p.Pro844Leu)
c.*550C>T (n.*550C>T)
c.2771C>T (p.Pro924Leu)
c.2345C>T (p.Pro782Leu)
c.2369C>T (p.Pro790Leu)
n.2500C>T
c.2765C>T (p.Pro922Leu)
n.2945C>T
n.2925C>T
c.2417C>T (p.Pro806Leu)
n.2910C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.3228415G>CCA408085380SLC4A11c.2402C>G (p.Pro801Arg)
c.2333C>G (p.Pro778Arg)
c.2260-59C>G (n.2260-59C>G)
c.2288C>G (p.Pro763Arg)
c.2450C>G (p.Pro817Arg)
c.2531C>G (p.Pro844Arg)
c.*550C>G (n.*550C>G)
c.2771C>G (p.Pro924Arg)
c.2345C>G (p.Pro782Arg)
c.2369C>G (p.Pro790Arg)
n.2500C>G
c.2765C>G (p.Pro922Arg)
n.2945C>G
n.2925C>G
c.2417C>G (p.Pro806Arg)
n.2910C>G
 gnomAD v4
20g.3228415G=CA2346474979SLC4A11c.2402C= (p.Pro801=)
c.2333C= (p.Pro778=)
c.2260-59C= (n.2260-59C=)
c.2288C= (p.Pro763=)
c.2450C= (p.Pro817=)
c.2531C= (p.Pro844=)
c.*550C= (n.*550C=)
c.2771C= (p.Pro924=)
c.2345C= (p.Pro782=)
c.2369C= (p.Pro790=)
n.2500C=
c.2765C= (p.Pro922=)
n.2945C=
n.2925C=
c.2417C= (p.Pro806=)
n.2910C=
20g.3228415G>TCA408085383SLC4A11c.2402C>A (p.Pro801Gln)
c.2333C>A (p.Pro778Gln)
c.2260-59C>A (n.2260-59C>A)
c.2288C>A (p.Pro763Gln)
c.2450C>A (p.Pro817Gln)
c.2531C>A (p.Pro844Gln)
c.*550C>A (n.*550C>A)
c.2771C>A (p.Pro924Gln)
c.2345C>A (p.Pro782Gln)
c.2369C>A (p.Pro790Gln)
n.2500C>A
c.2765C>A (p.Pro922Gln)
n.2945C>A
n.2925C>A
c.2417C>A (p.Pro806Gln)
n.2910C>A
20g.3228420dupCA2346474980SLC4A11c.2402dup (p.Thr802AspfsTer?)
c.2333dup (p.Thr779AspfsTer?)
c.2260-59dup (n.2260-59dup)
c.2288dup (p.Thr764AspfsTer?)
c.2450dup (p.Thr818AspfsTer?)
c.2531dup (p.Thr845AspfsTer?)
c.*550dup (n.*550dup)
c.2771dup (p.Thr925AspfsTer?)
c.2345dup (p.Thr783AspfsTer?)
c.2369dup (p.Thr791AspfsTer?)
n.2500dup
c.2765dup (p.Thr923AspfsTer?)
n.2945dup
n.2925dup
c.2417dup (p.Thr807AspfsTer?)
n.2910dup
 ClinVar dbSNP gnomAD v4
20g.3228420delCA2695229227SLC4A11c.2402del (p.Pro801ArgfsTer?)
c.2333del (p.Pro778ArgfsTer?)
c.2260-59del (n.2260-59del)
c.2288del (p.Pro763ArgfsTer?)
c.2450del (p.Pro817ArgfsTer?)
c.2531del (p.Pro844ArgfsTer?)
c.*550del (n.*550del)
c.2771del (p.Pro924ArgfsTer?)
c.2345del (p.Pro782ArgfsTer?)
c.2369del (p.Pro790ArgfsTer?)
n.2500del
c.2765del (p.Pro922ArgfsTer?)
n.2945del
n.2925del
c.2417del (p.Pro806ArgfsTer?)
n.2910del
20g.3228416G>ACA408085391SLC4A11c.2401C>T (p.Pro801Ser)
c.2332C>T (p.Pro778Ser)
c.2260-60C>T (n.2260-60C>T)
c.2287C>T (p.Pro763Ser)
c.2449C>T (p.Pro817Ser)
c.2530C>T (p.Pro844Ser)
c.*549C>T (n.*549C>T)
c.2770C>T (p.Pro924Ser)
c.2344C>T (p.Pro782Ser)
c.2368C>T (p.Pro790Ser)
n.2499C>T
c.2764C>T (p.Pro922Ser)
n.2944C>T
n.2924C>T
c.2416C>T (p.Pro806Ser)
n.2909C>T
 gnomAD v4
20g.3228416G>CCA408085399SLC4A11c.2401C>G (p.Pro801Ala)
c.2332C>G (p.Pro778Ala)
c.2260-60C>G (n.2260-60C>G)
c.2287C>G (p.Pro763Ala)
c.2449C>G (p.Pro817Ala)
c.2530C>G (p.Pro844Ala)
c.*549C>G (n.*549C>G)
c.2770C>G (p.Pro924Ala)
c.2344C>G (p.Pro782Ala)
c.2368C>G (p.Pro790Ala)
n.2499C>G
c.2764C>G (p.Pro922Ala)
n.2944C>G
n.2924C>G
c.2416C>G (p.Pro806Ala)
n.2909C>G
20g.3228416G>TCA408085403SLC4A11c.2401C>A (p.Pro801Thr)
c.2332C>A (p.Pro778Thr)
c.2260-60C>A (n.2260-60C>A)
c.2287C>A (p.Pro763Thr)
c.2449C>A (p.Pro817Thr)
c.2530C>A (p.Pro844Thr)
c.*549C>A (n.*549C>A)
c.2770C>A (p.Pro924Thr)
c.2344C>A (p.Pro782Thr)
c.2368C>A (p.Pro790Thr)
n.2499C>A
c.2764C>A (p.Pro922Thr)
n.2944C>A
n.2924C>A
c.2416C>A (p.Pro806Thr)
n.2909C>A
20g.3228417G>ACA9741464SLC4A11c.2400C>T (p.Pro800=)
c.2331C>T (p.Pro777=)
c.2260-61C>T (n.2260-61C>T)
c.2286C>T (p.Pro762=)
c.2448C>T (p.Pro816=)
c.2529C>T (p.Pro843=)
c.*548C>T (n.*548C>T)
c.2769C>T (p.Pro923=)
c.2343C>T (p.Pro781=)
c.2367C>T (p.Pro789=)
n.2498C>T
c.2763C>T (p.Pro921=)
n.2943C>T
n.2923C>T
c.2415C>T (p.Pro805=)
n.2908C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228417G>CCA509557705SLC4A11c.2400C>G (p.Pro800=)
c.2331C>G (p.Pro777=)
c.2260-61C>G (n.2260-61C>G)
c.2286C>G (p.Pro762=)
c.2448C>G (p.Pro816=)
c.2529C>G (p.Pro843=)
c.*548C>G (n.*548C>G)
c.2769C>G (p.Pro923=)
c.2343C>G (p.Pro781=)
c.2367C>G (p.Pro789=)
n.2498C>G
c.2763C>G (p.Pro921=)
n.2943C>G
n.2923C>G
c.2415C>G (p.Pro805=)
n.2908C>G
 gnomAD v4
20g.3228417G=CA2346474981SLC4A11c.2400C= (p.Pro800=)
c.2331C= (p.Pro777=)
c.2260-61C= (n.2260-61C=)
c.2286C= (p.Pro762=)
c.2448C= (p.Pro816=)
c.2529C= (p.Pro843=)
c.*548C= (n.*548C=)
c.2769C= (p.Pro923=)
c.2343C= (p.Pro781=)
c.2367C= (p.Pro789=)
n.2498C=
c.2763C= (p.Pro921=)
n.2943C=
n.2923C=
c.2415C= (p.Pro805=)
n.2908C=
20g.3228417G>TCA509557706SLC4A11c.2400C>A (p.Pro800=)
c.2331C>A (p.Pro777=)
c.2260-61C>A (n.2260-61C>A)
c.2286C>A (p.Pro762=)
c.2448C>A (p.Pro816=)
c.2529C>A (p.Pro843=)
c.*548C>A (n.*548C>A)
c.2769C>A (p.Pro923=)
c.2343C>A (p.Pro781=)
c.2367C>A (p.Pro789=)
n.2498C>A
c.2763C>A (p.Pro921=)
n.2943C>A
n.2923C>A
c.2415C>A (p.Pro805=)
n.2908C>A
 gnomAD v4
20g.3228418G>ACA408085415SLC4A11c.2399C>T (p.Pro800Leu)
c.2330C>T (p.Pro777Leu)
c.2260-62C>T (n.2260-62C>T)
c.2285C>T (p.Pro762Leu)
c.2447C>T (p.Pro816Leu)
c.2528C>T (p.Pro843Leu)
c.*547C>T (n.*547C>T)
c.2768C>T (p.Pro923Leu)
c.2342C>T (p.Pro781Leu)
c.2366C>T (p.Pro789Leu)
n.2497C>T
c.2762C>T (p.Pro921Leu)
n.2942C>T
n.2922C>T
c.2414C>T (p.Pro805Leu)
n.2907C>T
 dbSNP gnomAD v4
20g.3228418G>CCA408085419SLC4A11c.2399C>G (p.Pro800Arg)
c.2330C>G (p.Pro777Arg)
c.2260-62C>G (n.2260-62C>G)
c.2285C>G (p.Pro762Arg)
c.2447C>G (p.Pro816Arg)
c.2528C>G (p.Pro843Arg)
c.*547C>G (n.*547C>G)
c.2768C>G (p.Pro923Arg)
c.2342C>G (p.Pro781Arg)
c.2366C>G (p.Pro789Arg)
n.2497C>G
c.2762C>G (p.Pro921Arg)
n.2942C>G
n.2922C>G
c.2414C>G (p.Pro805Arg)
n.2907C>G
20g.3228418G=CA2346474982SLC4A11c.2399C= (p.Pro800=)
c.2330C= (p.Pro777=)
c.2260-62C= (n.2260-62C=)
c.2285C= (p.Pro762=)
c.2447C= (p.Pro816=)
c.2528C= (p.Pro843=)
c.*547C= (n.*547C=)
c.2768C= (p.Pro923=)
c.2342C= (p.Pro781=)
c.2366C= (p.Pro789=)
n.2497C=
c.2762C= (p.Pro921=)
n.2942C=
n.2922C=
c.2414C= (p.Pro805=)
n.2907C=
20g.3228418G>TCA408085424SLC4A11c.2399C>A (p.Pro800His)
c.2330C>A (p.Pro777His)
c.2260-62C>A (n.2260-62C>A)
c.2285C>A (p.Pro762His)
c.2447C>A (p.Pro816His)
c.2528C>A (p.Pro843His)
c.*547C>A (n.*547C>A)
c.2768C>A (p.Pro923His)
c.2342C>A (p.Pro781His)
c.2366C>A (p.Pro789His)
n.2497C>A
c.2762C>A (p.Pro921His)
n.2942C>A
n.2922C>A
c.2414C>A (p.Pro805His)
n.2907C>A
20g.3228419G>ACA408085428SLC4A11c.2398C>T (p.Pro800Ser)
c.2329C>T (p.Pro777Ser)
c.2260-63C>T (n.2260-63C>T)
c.2284C>T (p.Pro762Ser)
c.2446C>T (p.Pro816Ser)
c.2527C>T (p.Pro843Ser)
c.*546C>T (n.*546C>T)
c.2767C>T (p.Pro923Ser)
c.2341C>T (p.Pro781Ser)
c.2365C>T (p.Pro789Ser)
n.2496C>T
c.2761C>T (p.Pro921Ser)
n.2941C>T
n.2921C>T
c.2413C>T (p.Pro805Ser)
n.2906C>T
20g.3228419G>CCA408085431SLC4A11c.2398C>G (p.Pro800Ala)
c.2329C>G (p.Pro777Ala)
c.2260-63C>G (n.2260-63C>G)
c.2284C>G (p.Pro762Ala)
c.2446C>G (p.Pro816Ala)
c.2527C>G (p.Pro843Ala)
c.*546C>G (n.*546C>G)
c.2767C>G (p.Pro923Ala)
c.2341C>G (p.Pro781Ala)
c.2365C>G (p.Pro789Ala)
n.2496C>G
c.2761C>G (p.Pro921Ala)
n.2941C>G
n.2921C>G
c.2413C>G (p.Pro805Ala)
n.2906C>G
20g.3228419G>TCA408085432SLC4A11c.2398C>A (p.Pro800Thr)
c.2329C>A (p.Pro777Thr)
c.2260-63C>A (n.2260-63C>A)
c.2284C>A (p.Pro762Thr)
c.2446C>A (p.Pro816Thr)
c.2527C>A (p.Pro843Thr)
c.*546C>A (n.*546C>A)
c.2767C>A (p.Pro923Thr)
c.2341C>A (p.Pro781Thr)
c.2365C>A (p.Pro789Thr)
n.2496C>A
c.2761C>A (p.Pro921Thr)
n.2941C>A
n.2921C>A
c.2413C>A (p.Pro805Thr)
n.2906C>A
20g.3228420G>ACA509557707SLC4A11c.2397C>T (p.Tyr799=)
c.2328C>T (p.Tyr776=)
c.2260-64C>T (n.2260-64C>T)
c.2283C>T (p.Tyr761=)
c.2445C>T (p.Tyr815=)
c.2526C>T (p.Tyr842=)
c.*545C>T (n.*545C>T)
c.2766C>T (p.Tyr922=)
c.2340C>T (p.Tyr780=)
c.2364C>T (p.Tyr788=)
n.2495C>T
c.2760C>T (p.Tyr920=)
n.2940C>T
n.2920C>T
c.2412C>T (p.Tyr804=)
n.2905C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.3228420G>CCA408085434SLC4A11c.2397C>G (p.Tyr799Ter)
c.2328C>G (p.Tyr776Ter)
c.2260-64C>G (n.2260-64C>G)
c.2283C>G (p.Tyr761Ter)
c.2445C>G (p.Tyr815Ter)
c.2526C>G (p.Tyr842Ter)
c.*545C>G (n.*545C>G)
c.2766C>G (p.Tyr922Ter)
c.2340C>G (p.Tyr780Ter)
c.2364C>G (p.Tyr788Ter)
n.2495C>G
c.2760C>G (p.Tyr920Ter)
n.2940C>G
n.2920C>G
c.2412C>G (p.Tyr804Ter)
n.2905C>G
 gnomAD v4
20g.3228420G=CA2346474983SLC4A11c.2397C= (p.Tyr799=)
c.2328C= (p.Tyr776=)
c.2260-64C= (n.2260-64C=)
c.2283C= (p.Tyr761=)
c.2445C= (p.Tyr815=)
c.2526C= (p.Tyr842=)
c.*545C= (n.*545C=)
c.2766C= (p.Tyr922=)
c.2340C= (p.Tyr780=)
c.2364C= (p.Tyr788=)
n.2495C=
c.2760C= (p.Tyr920=)
n.2940C=
n.2920C=
c.2412C= (p.Tyr804=)
n.2905C=
20g.3228420G>TCA408085433SLC4A11c.2397C>A (p.Tyr799Ter)
c.2328C>A (p.Tyr776Ter)
c.2260-64C>A (n.2260-64C>A)
c.2283C>A (p.Tyr761Ter)
c.2445C>A (p.Tyr815Ter)
c.2526C>A (p.Tyr842Ter)
c.*545C>A (n.*545C>A)
c.2766C>A (p.Tyr922Ter)
c.2340C>A (p.Tyr780Ter)
c.2364C>A (p.Tyr788Ter)
n.2495C>A
c.2760C>A (p.Tyr920Ter)
n.2940C>A
n.2920C>A
c.2412C>A (p.Tyr804Ter)
n.2905C>A
20g.3228421T>ACA408085439SLC4A11c.2396A>T (p.Tyr799Phe)
c.2327A>T (p.Tyr776Phe)
c.2260-65A>T (n.2260-65A>T)
c.2282A>T (p.Tyr761Phe)
c.2444A>T (p.Tyr815Phe)
c.2525A>T (p.Tyr842Phe)
c.*544A>T (n.*544A>T)
c.2765A>T (p.Tyr922Phe)
c.2339A>T (p.Tyr780Phe)
c.2363A>T (p.Tyr788Phe)
n.2494A>T
c.2759A>T (p.Tyr920Phe)
n.2939A>T
n.2919A>T
c.2411A>T (p.Tyr804Phe)
n.2904A>T
20g.3228421T>CCA408085441SLC4A11c.2396A>G (p.Tyr799Cys)
c.2327A>G (p.Tyr776Cys)
c.2260-65A>G (n.2260-65A>G)
c.2282A>G (p.Tyr761Cys)
c.2444A>G (p.Tyr815Cys)
c.2525A>G (p.Tyr842Cys)
c.*544A>G (n.*544A>G)
c.2765A>G (p.Tyr922Cys)
c.2339A>G (p.Tyr780Cys)
c.2363A>G (p.Tyr788Cys)
n.2494A>G
c.2759A>G (p.Tyr920Cys)
n.2939A>G
n.2919A>G
c.2411A>G (p.Tyr804Cys)
n.2904A>G
20g.3228421T>GCA408085446SLC4A11c.2396A>C (p.Tyr799Ser)
c.2327A>C (p.Tyr776Ser)
c.2260-65A>C (n.2260-65A>C)
c.2282A>C (p.Tyr761Ser)
c.2444A>C (p.Tyr815Ser)
c.2525A>C (p.Tyr842Ser)
c.*544A>C (n.*544A>C)
c.2765A>C (p.Tyr922Ser)
c.2339A>C (p.Tyr780Ser)
c.2363A>C (p.Tyr788Ser)
n.2494A>C
c.2759A>C (p.Tyr920Ser)
n.2939A>C
n.2919A>C
c.2411A>C (p.Tyr804Ser)
n.2904A>C
 dbSNP
20g.3228421T=CA2346474984SLC4A11c.2396A= (p.Tyr799=)
c.2327A= (p.Tyr776=)
c.2260-65A= (n.2260-65A=)
c.2282A= (p.Tyr761=)
c.2444A= (p.Tyr815=)
c.2525A= (p.Tyr842=)
c.*544A= (n.*544A=)
c.2765A= (p.Tyr922=)
c.2339A= (p.Tyr780=)
c.2363A= (p.Tyr788=)
n.2494A=
c.2759A= (p.Tyr920=)
n.2939A=
n.2919A=
c.2411A= (p.Tyr804=)
n.2904A=
20g.3228422A>CCA408085450SLC4A11c.2395T>G (p.Tyr799Asp)
c.2326T>G (p.Tyr776Asp)
c.2260-66T>G (n.2260-66T>G)
c.2281T>G (p.Tyr761Asp)
c.2443T>G (p.Tyr815Asp)
c.2524T>G (p.Tyr842Asp)
c.*543T>G (n.*543T>G)
c.2764T>G (p.Tyr922Asp)
c.2338T>G (p.Tyr780Asp)
c.2362T>G (p.Tyr788Asp)
n.2493T>G
c.2758T>G (p.Tyr920Asp)
n.2938T>G
n.2918T>G
c.2410T>G (p.Tyr804Asp)
n.2903T>G
20g.3228422A>GCA408085452SLC4A11c.2395T>C (p.Tyr799His)
c.2326T>C (p.Tyr776His)
c.2260-66T>C (n.2260-66T>C)
c.2281T>C (p.Tyr761His)
c.2443T>C (p.Tyr815His)
c.2524T>C (p.Tyr842His)
c.*543T>C (n.*543T>C)
c.2764T>C (p.Tyr922His)
c.2338T>C (p.Tyr780His)
c.2362T>C (p.Tyr788His)
n.2493T>C
c.2758T>C (p.Tyr920His)
n.2938T>C
n.2918T>C
c.2410T>C (p.Tyr804His)
n.2903T>C
20g.3228422A>TCA408085455SLC4A11c.2395T>A (p.Tyr799Asn)
c.2326T>A (p.Tyr776Asn)
c.2260-66T>A (n.2260-66T>A)
c.2281T>A (p.Tyr761Asn)
c.2443T>A (p.Tyr815Asn)
c.2524T>A (p.Tyr842Asn)
c.*543T>A (n.*543T>A)
c.2764T>A (p.Tyr922Asn)
c.2338T>A (p.Tyr780Asn)
c.2362T>A (p.Tyr788Asn)
n.2493T>A
c.2758T>A (p.Tyr920Asn)
n.2938T>A
n.2918T>A
c.2410T>A (p.Tyr804Asn)
n.2903T>A
20g.3228423C>ACA509557708SLC4A11c.2394G>T (p.Ala798=)
c.2325G>T (p.Ala775=)
c.2260-67G>T (n.2260-67G>T)
c.2280G>T (p.Ala760=)
c.2442G>T (p.Ala814=)
c.2523G>T (p.Ala841=)
c.*542G>T (n.*542G>T)
c.2763G>T (p.Ala921=)
c.2337G>T (p.Ala779=)
c.2361G>T (p.Ala787=)
n.2492G>T
c.2757G>T (p.Ala919=)
n.2937G>T
n.2917G>T
c.2409G>T (p.Ala803=)
n.2902G>T
 gnomAD v4
20g.3228423C=CA2346474985SLC4A11c.2394G= (p.Ala798=)
c.2325G= (p.Ala775=)
c.2260-67G= (n.2260-67G=)
c.2280G= (p.Ala760=)
c.2442G= (p.Ala814=)
c.2523G= (p.Ala841=)
c.*542G= (n.*542G=)
c.2763G= (p.Ala921=)
c.2337G= (p.Ala779=)
c.2361G= (p.Ala787=)
n.2492G=
c.2757G= (p.Ala919=)
n.2937G=
n.2917G=
c.2409G= (p.Ala803=)
n.2902G=
20g.3228423C>GCA509557709SLC4A11c.2394G>C (p.Ala798=)
c.2325G>C (p.Ala775=)
c.2260-67G>C (n.2260-67G>C)
c.2280G>C (p.Ala760=)
c.2442G>C (p.Ala814=)
c.2523G>C (p.Ala841=)
c.*542G>C (n.*542G>C)
c.2763G>C (p.Ala921=)
c.2337G>C (p.Ala779=)
c.2361G>C (p.Ala787=)
n.2492G>C
c.2757G>C (p.Ala919=)
n.2937G>C
n.2917G>C
c.2409G>C (p.Ala803=)
n.2902G>C
20g.3228423C>TCA9741465SLC4A11c.2394G>A (p.Ala798=)
c.2325G>A (p.Ala775=)
c.2260-67G>A (n.2260-67G>A)
c.2280G>A (p.Ala760=)
c.2442G>A (p.Ala814=)
c.2523G>A (p.Ala841=)
c.*542G>A (n.*542G>A)
c.2763G>A (p.Ala921=)
c.2337G>A (p.Ala779=)
c.2361G>A (p.Ala787=)
n.2492G>A
c.2757G>A (p.Ala919=)
n.2937G>A
n.2917G>A
c.2409G>A (p.Ala803=)
n.2902G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228424G>ACA310984878SLC4A11c.2393C>T (p.Ala798Val)
c.2324C>T (p.Ala775Val)
c.2260-68C>T (n.2260-68C>T)
c.2279C>T (p.Ala760Val)
c.2441C>T (p.Ala814Val)
c.2522C>T (p.Ala841Val)
c.*541C>T (n.*541C>T)
c.2762C>T (p.Ala921Val)
c.2336C>T (p.Ala779Val)
c.2360C>T (p.Ala787Val)
n.2491C>T
c.2756C>T (p.Ala919Val)
n.2936C>T
n.2916C>T
c.2408C>T (p.Ala803Val)
n.2901C>T
 dbSNP gnomAD v2 gnomAD v4
20g.3228424G>CCA408085462SLC4A11c.2393C>G (p.Ala798Gly)
c.2324C>G (p.Ala775Gly)
c.2260-68C>G (n.2260-68C>G)
c.2279C>G (p.Ala760Gly)
c.2441C>G (p.Ala814Gly)
c.2522C>G (p.Ala841Gly)
c.*541C>G (n.*541C>G)
c.2762C>G (p.Ala921Gly)
c.2336C>G (p.Ala779Gly)
c.2360C>G (p.Ala787Gly)
n.2491C>G
c.2756C>G (p.Ala919Gly)
n.2936C>G
n.2916C>G
c.2408C>G (p.Ala803Gly)
n.2901C>G
20g.3228424G=CA2346474986SLC4A11c.2393C= (p.Ala798=)
c.2324C= (p.Ala775=)
c.2260-68C= (n.2260-68C=)
c.2279C= (p.Ala760=)
c.2441C= (p.Ala814=)
c.2522C= (p.Ala841=)
c.*541C= (n.*541C=)
c.2762C= (p.Ala921=)
c.2336C= (p.Ala779=)
c.2360C= (p.Ala787=)
n.2491C=
c.2756C= (p.Ala919=)
n.2936C=
n.2916C=
c.2408C= (p.Ala803=)
n.2901C=
20g.3228424G>TCA408085464SLC4A11c.2393C>A (p.Ala798Glu)
c.2324C>A (p.Ala775Glu)
c.2260-68C>A (n.2260-68C>A)
c.2279C>A (p.Ala760Glu)
c.2441C>A (p.Ala814Glu)
c.2522C>A (p.Ala841Glu)
c.*541C>A (n.*541C>A)
c.2762C>A (p.Ala921Glu)
c.2336C>A (p.Ala779Glu)
c.2360C>A (p.Ala787Glu)
n.2491C>A
c.2756C>A (p.Ala919Glu)
n.2936C>A
n.2916C>A
c.2408C>A (p.Ala803Glu)
n.2901C>A
20g.3228425C>ACA408085468SLC4A11c.2392G>T (p.Ala798Ser)
c.2323G>T (p.Ala775Ser)
c.2260-69G>T (n.2260-69G>T)
c.2278G>T (p.Ala760Ser)
c.2440G>T (p.Ala814Ser)
c.2521G>T (p.Ala841Ser)
c.*540G>T (n.*540G>T)
c.2761G>T (p.Ala921Ser)
c.2335G>T (p.Ala779Ser)
c.2359G>T (p.Ala787Ser)
n.2490G>T
c.2755G>T (p.Ala919Ser)
n.2935G>T
n.2915G>T
c.2407G>T (p.Ala803Ser)
n.2900G>T
 gnomAD v4
20g.3228425C>GCA408085475SLC4A11c.2392G>C (p.Ala798Pro)
c.2323G>C (p.Ala775Pro)
c.2260-69G>C (n.2260-69G>C)
c.2278G>C (p.Ala760Pro)
c.2440G>C (p.Ala814Pro)
c.2521G>C (p.Ala841Pro)
c.*540G>C (n.*540G>C)
c.2761G>C (p.Ala921Pro)
c.2335G>C (p.Ala779Pro)
c.2359G>C (p.Ala787Pro)
n.2490G>C
c.2755G>C (p.Ala919Pro)
n.2935G>C
n.2915G>C
c.2407G>C (p.Ala803Pro)
n.2900G>C
20g.3228425C>TCA408085478SLC4A11c.2392G>A (p.Ala798Thr)
c.2323G>A (p.Ala775Thr)
c.2260-69G>A (n.2260-69G>A)
c.2278G>A (p.Ala760Thr)
c.2440G>A (p.Ala814Thr)
c.2521G>A (p.Ala841Thr)
c.*540G>A (n.*540G>A)
c.2761G>A (p.Ala921Thr)
c.2335G>A (p.Ala779Thr)
c.2359G>A (p.Ala787Thr)
n.2490G>A
c.2755G>A (p.Ala919Thr)
n.2935G>A
n.2915G>A
c.2407G>A (p.Ala803Thr)
n.2900G>A
 gnomAD v4
20g.3228426A=CA2346474987SLC4A11c.2391T= (p.Thr797=)
c.2322T= (p.Thr774=)
c.2260-70T= (n.2260-70T=)
c.2277T= (p.Thr759=)
c.2439T= (p.Thr813=)
c.2520T= (p.Thr840=)
c.*539T= (n.*539T=)
c.2760T= (p.Thr920=)
c.2334T= (p.Thr778=)
c.2358T= (p.Thr786=)
n.2489T=
c.2754T= (p.Thr918=)
n.2934T=
n.2914T=
c.2406T= (p.Thr802=)
n.2899T=
20g.3228426A>CCA9741466SLC4A11c.2391T>G (p.Thr797=)
c.2322T>G (p.Thr774=)
c.2260-70T>G (n.2260-70T>G)
c.2277T>G (p.Thr759=)
c.2439T>G (p.Thr813=)
c.2520T>G (p.Thr840=)
c.*539T>G (n.*539T>G)
c.2760T>G (p.Thr920=)
c.2334T>G (p.Thr778=)
c.2358T>G (p.Thr786=)
n.2489T>G
c.2754T>G (p.Thr918=)
n.2934T>G
n.2914T>G
c.2406T>G (p.Thr802=)
n.2899T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228426A>GCA509557710SLC4A11c.2391T>C (p.Thr797=)
c.2322T>C (p.Thr774=)
c.2260-70T>C (n.2260-70T>C)
c.2277T>C (p.Thr759=)
c.2439T>C (p.Thr813=)
c.2520T>C (p.Thr840=)
c.*539T>C (n.*539T>C)
c.2760T>C (p.Thr920=)
c.2334T>C (p.Thr778=)
c.2358T>C (p.Thr786=)
n.2489T>C
c.2754T>C (p.Thr918=)
n.2934T>C
n.2914T>C
c.2406T>C (p.Thr802=)
n.2899T>C
 gnomAD v4
20g.3228426A>TCA509557711SLC4A11c.2391T>A (p.Thr797=)
c.2322T>A (p.Thr774=)
c.2260-70T>A (n.2260-70T>A)
c.2277T>A (p.Thr759=)
c.2439T>A (p.Thr813=)
c.2520T>A (p.Thr840=)
c.*539T>A (n.*539T>A)
c.2760T>A (p.Thr920=)
c.2334T>A (p.Thr778=)
c.2358T>A (p.Thr786=)
n.2489T>A
c.2754T>A (p.Thr918=)
n.2934T>A
n.2914T>A
c.2406T>A (p.Thr802=)
n.2899T>A
20g.3228427G>ACA408085492SLC4A11c.2390C>T (p.Thr797Ile)
c.2321C>T (p.Thr774Ile)
c.2260-71C>T (n.2260-71C>T)
c.2276C>T (p.Thr759Ile)
c.2438C>T (p.Thr813Ile)
c.2519C>T (p.Thr840Ile)
c.*538C>T (n.*538C>T)
c.2759C>T (p.Thr920Ile)
c.2333C>T (p.Thr778Ile)
c.2357C>T (p.Thr786Ile)
n.2488C>T
c.2753C>T (p.Thr918Ile)
n.2933C>T
n.2913C>T
c.2405C>T (p.Thr802Ile)
n.2898C>T
20g.3228427G>CCA408085483SLC4A11c.2390C>G (p.Thr797Ser)
c.2321C>G (p.Thr774Ser)
c.2260-71C>G (n.2260-71C>G)
c.2276C>G (p.Thr759Ser)
c.2438C>G (p.Thr813Ser)
c.2519C>G (p.Thr840Ser)
c.*538C>G (n.*538C>G)
c.2759C>G (p.Thr920Ser)
c.2333C>G (p.Thr778Ser)
c.2357C>G (p.Thr786Ser)
n.2488C>G
c.2753C>G (p.Thr918Ser)
n.2933C>G
n.2913C>G
c.2405C>G (p.Thr802Ser)
n.2898C>G
20g.3228427G>TCA408085487SLC4A11c.2390C>A (p.Thr797Asn)
c.2321C>A (p.Thr774Asn)
c.2260-71C>A (n.2260-71C>A)
c.2276C>A (p.Thr759Asn)
c.2438C>A (p.Thr813Asn)
c.2519C>A (p.Thr840Asn)
c.*538C>A (n.*538C>A)
c.2759C>A (p.Thr920Asn)
c.2333C>A (p.Thr778Asn)
c.2357C>A (p.Thr786Asn)
n.2488C>A
c.2753C>A (p.Thr918Asn)
n.2933C>A
n.2913C>A
c.2405C>A (p.Thr802Asn)
n.2898C>A
20g.3228428T>ACA408085494SLC4A11c.2389A>T (p.Thr797Ser)
c.2320A>T (p.Thr774Ser)
c.2260-72A>T (n.2260-72A>T)
c.2275A>T (p.Thr759Ser)
c.2437A>T (p.Thr813Ser)
c.2518A>T (p.Thr840Ser)
c.*537A>T (n.*537A>T)
c.2758A>T (p.Thr920Ser)
c.2332A>T (p.Thr778Ser)
c.2356A>T (p.Thr786Ser)
n.2487A>T
c.2752A>T (p.Thr918Ser)
n.2932A>T
n.2912A>T
c.2404A>T (p.Thr802Ser)
n.2897A>T
20g.3228428T>CCA408085495SLC4A11c.2389A>G (p.Thr797Ala)
c.2320A>G (p.Thr774Ala)
c.2260-72A>G (n.2260-72A>G)
c.2275A>G (p.Thr759Ala)
c.2437A>G (p.Thr813Ala)
c.2518A>G (p.Thr840Ala)
c.*537A>G (n.*537A>G)
c.2758A>G (p.Thr920Ala)
c.2332A>G (p.Thr778Ala)
c.2356A>G (p.Thr786Ala)
n.2487A>G
c.2752A>G (p.Thr918Ala)
n.2932A>G
n.2912A>G
c.2404A>G (p.Thr802Ala)
n.2897A>G
 gnomAD v4
20g.3228428T>GCA408085498SLC4A11c.2389A>C (p.Thr797Pro)
c.2320A>C (p.Thr774Pro)
c.2260-72A>C (n.2260-72A>C)
c.2275A>C (p.Thr759Pro)
c.2437A>C (p.Thr813Pro)
c.2518A>C (p.Thr840Pro)
c.*537A>C (n.*537A>C)
c.2758A>C (p.Thr920Pro)
c.2332A>C (p.Thr778Pro)
c.2356A>C (p.Thr786Pro)
n.2487A>C
c.2752A>C (p.Thr918Pro)
n.2932A>C
n.2912A>C
c.2404A>C (p.Thr802Pro)
n.2897A>C
 gnomAD v4
20g.3228429C>ACA408085507SLC4A11c.2389-1G>T (n.2389-1G>T)
c.2320-1G>T (n.2320-1G>T)
c.2260-73G>T (n.2260-73G>T)
c.2275-1G>T (n.2275-1G>T)
c.2437-1G>T (n.2437-1G>T)
c.2518-1G>T (n.2518-1G>T)
c.*537-1G>T (n.*537-1G>T)
c.2758-1G>T (n.2758-1G>T)
c.2332-1G>T (n.2332-1G>T)
c.2356-1G>T (n.2356-1G>T)
n.2487-1G>T
c.2752-1G>T (n.2752-1G>T)
n.2932-1G>T
n.2912-1G>T
c.2404-1G>T (n.2404-1G>T)
n.2897-1G>T
20g.3228429C=CA2346474988SLC4A11c.2389-1G= (n.2389-1G=)
c.2320-1G= (n.2320-1G=)
c.2260-73G= (n.2260-73G=)
c.2275-1G= (n.2275-1G=)
c.2437-1G= (n.2437-1G=)
c.2518-1G= (n.2518-1G=)
c.*537-1G= (n.*537-1G=)
c.2758-1G= (n.2758-1G=)
c.2332-1G= (n.2332-1G=)
c.2356-1G= (n.2356-1G=)
n.2487-1G=
c.2752-1G= (n.2752-1G=)
n.2932-1G=
n.2912-1G=
c.2404-1G= (n.2404-1G=)
n.2897-1G=
20g.3228429C>GCA408085508SLC4A11c.2389-1G>C (n.2389-1G>C)
c.2320-1G>C (n.2320-1G>C)
c.2260-73G>C (n.2260-73G>C)
c.2275-1G>C (n.2275-1G>C)
c.2437-1G>C (n.2437-1G>C)
c.2518-1G>C (n.2518-1G>C)
c.*537-1G>C (n.*537-1G>C)
c.2758-1G>C (n.2758-1G>C)
c.2332-1G>C (n.2332-1G>C)
c.2356-1G>C (n.2356-1G>C)
n.2487-1G>C
c.2752-1G>C (n.2752-1G>C)
n.2932-1G>C
n.2912-1G>C
c.2404-1G>C (n.2404-1G>C)
n.2897-1G>C
20g.3228429C>TCA9741467SLC4A11c.2389-1G>A (n.2389-1G>A)
c.2320-1G>A (n.2320-1G>A)
c.2260-73G>A (n.2260-73G>A)
c.2275-1G>A (n.2275-1G>A)
c.2437-1G>A (n.2437-1G>A)
c.2518-1G>A (n.2518-1G>A)
c.*537-1G>A (n.*537-1G>A)
c.2758-1G>A (n.2758-1G>A)
c.2332-1G>A (n.2332-1G>A)
c.2356-1G>A (n.2356-1G>A)
n.2487-1G>A
c.2752-1G>A (n.2752-1G>A)
n.2932-1G>A
n.2912-1G>A
c.2404-1G>A (n.2404-1G>A)
n.2897-1G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228430T>ACA408085514SLC4A11c.2389-2A>T (n.2389-2A>T)
c.2320-2A>T (n.2320-2A>T)
c.2260-74A>T (n.2260-74A>T)
c.2275-2A>T (n.2275-2A>T)
c.2437-2A>T (n.2437-2A>T)
c.2518-2A>T (n.2518-2A>T)
c.*537-2A>T (n.*537-2A>T)
c.2758-2A>T (n.2758-2A>T)
c.2332-2A>T (n.2332-2A>T)
c.2356-2A>T (n.2356-2A>T)
n.2487-2A>T
c.2752-2A>T (n.2752-2A>T)
n.2932-2A>T
n.2912-2A>T
c.2404-2A>T (n.2404-2A>T)
n.2897-2A>T
20g.3228430T>CCA408085516SLC4A11c.2389-2A>G (n.2389-2A>G)
c.2320-2A>G (n.2320-2A>G)
c.2260-74A>G (n.2260-74A>G)
c.2275-2A>G (n.2275-2A>G)
c.2437-2A>G (n.2437-2A>G)
c.2518-2A>G (n.2518-2A>G)
c.*537-2A>G (n.*537-2A>G)
c.2758-2A>G (n.2758-2A>G)
c.2332-2A>G (n.2332-2A>G)
c.2356-2A>G (n.2356-2A>G)
n.2487-2A>G
c.2752-2A>G (n.2752-2A>G)
n.2932-2A>G
n.2912-2A>G
c.2404-2A>G (n.2404-2A>G)
n.2897-2A>G
20g.3228430T>GCA408085519SLC4A11c.2389-2A>C (n.2389-2A>C)
c.2320-2A>C (n.2320-2A>C)
c.2260-74A>C (n.2260-74A>C)
c.2275-2A>C (n.2275-2A>C)
c.2437-2A>C (n.2437-2A>C)
c.2518-2A>C (n.2518-2A>C)
c.*537-2A>C (n.*537-2A>C)
c.2758-2A>C (n.2758-2A>C)
c.2332-2A>C (n.2332-2A>C)
c.2356-2A>C (n.2356-2A>C)
n.2487-2A>C
c.2752-2A>C (n.2752-2A>C)
n.2932-2A>C
n.2912-2A>C
c.2404-2A>C (n.2404-2A>C)
n.2897-2A>C
20g.3228431G>ACA2651691201SLC4A11c.2389-3C>T (n.2389-3C>T)
c.2320-3C>T (n.2320-3C>T)
c.2260-75C>T (n.2260-75C>T)
c.2275-3C>T (n.2275-3C>T)
c.2437-3C>T (n.2437-3C>T)
c.2518-3C>T (n.2518-3C>T)
c.*537-3C>T (n.*537-3C>T)
c.2758-3C>T (n.2758-3C>T)
c.2332-3C>T (n.2332-3C>T)
c.2356-3C>T (n.2356-3C>T)
n.2487-3C>T
c.2752-3C>T (n.2752-3C>T)
n.2932-3C>T
n.2912-3C>T
c.2404-3C>T (n.2404-3C>T)
n.2897-3C>T
 gnomAD v4
20g.3228432T>GCA2815075155SLC4A11c.2389-4A>C (n.2389-4A>C)
c.2320-4A>C (n.2320-4A>C)
c.2260-76A>C (n.2260-76A>C)
c.2275-4A>C (n.2275-4A>C)
c.2437-4A>C (n.2437-4A>C)
c.2518-4A>C (n.2518-4A>C)
c.*537-4A>C (n.*537-4A>C)
c.2758-4A>C (n.2758-4A>C)
c.2332-4A>C (n.2332-4A>C)
c.2356-4A>C (n.2356-4A>C)
n.2487-4A>C
c.2752-4A>C (n.2752-4A>C)
n.2932-4A>C
n.2912-4A>C
c.2404-4A>C (n.2404-4A>C)
n.2897-4A>C
20g.3228433G>ACA634329257SLC4A11c.2389-5C>T (n.2389-5C>T)
c.2320-5C>T (n.2320-5C>T)
c.2260-77C>T (n.2260-77C>T)
c.2275-5C>T (n.2275-5C>T)
c.2437-5C>T (n.2437-5C>T)
c.2518-5C>T (n.2518-5C>T)
c.*537-5C>T (n.*537-5C>T)
c.2758-5C>T (n.2758-5C>T)
c.2332-5C>T (n.2332-5C>T)
c.2356-5C>T (n.2356-5C>T)
n.2487-5C>T
c.2752-5C>T (n.2752-5C>T)
n.2932-5C>T
n.2912-5C>T
c.2404-5C>T (n.2404-5C>T)
n.2897-5C>T
 dbSNP gnomAD v2 gnomAD v4
20g.3228433G=CA2346474989SLC4A11c.2389-5C= (n.2389-5C=)
c.2320-5C= (n.2320-5C=)
c.2260-77C= (n.2260-77C=)
c.2275-5C= (n.2275-5C=)
c.2437-5C= (n.2437-5C=)
c.2518-5C= (n.2518-5C=)
c.*537-5C= (n.*537-5C=)
c.2758-5C= (n.2758-5C=)
c.2332-5C= (n.2332-5C=)
c.2356-5C= (n.2356-5C=)
n.2487-5C=
c.2752-5C= (n.2752-5C=)
n.2932-5C=
n.2912-5C=
c.2404-5C= (n.2404-5C=)
n.2897-5C=
20g.3228434G>ACA2651691202SLC4A11c.2389-6C>T (n.2389-6C>T)
c.2320-6C>T (n.2320-6C>T)
c.2260-78C>T (n.2260-78C>T)
c.2275-6C>T (n.2275-6C>T)
c.2437-6C>T (n.2437-6C>T)
c.2518-6C>T (n.2518-6C>T)
c.*537-6C>T (n.*537-6C>T)
c.2758-6C>T (n.2758-6C>T)
c.2332-6C>T (n.2332-6C>T)
c.2356-6C>T (n.2356-6C>T)
n.2487-6C>T
c.2752-6C>T (n.2752-6C>T)
n.2932-6C>T
n.2912-6C>T
c.2404-6C>T (n.2404-6C>T)
n.2897-6C>T
 gnomAD v4
20g.3228435G>ACA634329258SLC4A11c.2389-7C>T (n.2389-7C>T)
c.2320-7C>T (n.2320-7C>T)
c.2259+77C>T (n.2259+77C>T)
c.2275-7C>T (n.2275-7C>T)
c.2437-7C>T (n.2437-7C>T)
c.2518-7C>T (n.2518-7C>T)
c.*537-7C>T (n.*537-7C>T)
c.2758-7C>T (n.2758-7C>T)
c.2332-7C>T (n.2332-7C>T)
c.2356-7C>T (n.2356-7C>T)
n.2487-7C>T
c.2752-7C>T (n.2752-7C>T)
n.2932-7C>T
n.2912-7C>T
c.2404-7C>T (n.2404-7C>T)
n.2897-7C>T
 dbSNP gnomAD v2 gnomAD v4
20g.3228435G=CA2346474990SLC4A11c.2389-7C= (n.2389-7C=)
c.2320-7C= (n.2320-7C=)
c.2259+77C= (n.2259+77C=)
c.2275-7C= (n.2275-7C=)
c.2437-7C= (n.2437-7C=)
c.2518-7C= (n.2518-7C=)
c.*537-7C= (n.*537-7C=)
c.2758-7C= (n.2758-7C=)
c.2332-7C= (n.2332-7C=)
c.2356-7C= (n.2356-7C=)
n.2487-7C=
c.2752-7C= (n.2752-7C=)
n.2932-7C=
n.2912-7C=
c.2404-7C= (n.2404-7C=)
n.2897-7C=
20g.3228436C=CA2346474991SLC4A11c.2389-8G= (n.2389-8G=)
c.2320-8G= (n.2320-8G=)
c.2259+76G= (n.2259+76G=)
c.2275-8G= (n.2275-8G=)
c.2437-8G= (n.2437-8G=)
c.2518-8G= (n.2518-8G=)
c.*537-8G= (n.*537-8G=)
c.2758-8G= (n.2758-8G=)
c.2332-8G= (n.2332-8G=)
c.2356-8G= (n.2356-8G=)
n.2487-8G=
c.2752-8G= (n.2752-8G=)
n.2932-8G=
n.2912-8G=
c.2404-8G= (n.2404-8G=)
n.2897-8G=
20g.3228436C>GCA2499225707SLC4A11c.2389-8G>C (n.2389-8G>C)
c.2320-8G>C (n.2320-8G>C)
c.2259+76G>C (n.2259+76G>C)
c.2275-8G>C (n.2275-8G>C)
c.2437-8G>C (n.2437-8G>C)
c.2518-8G>C (n.2518-8G>C)
c.*537-8G>C (n.*537-8G>C)
c.2758-8G>C (n.2758-8G>C)
c.2332-8G>C (n.2332-8G>C)
c.2356-8G>C (n.2356-8G>C)
n.2487-8G>C
c.2752-8G>C (n.2752-8G>C)
n.2932-8G>C
n.2912-8G>C
c.2404-8G>C (n.2404-8G>C)
n.2897-8G>C
 ClinVar dbSNP
20g.3228436C>TCA9741468SLC4A11c.2389-8G>A (n.2389-8G>A)
c.2320-8G>A (n.2320-8G>A)
c.2259+76G>A (n.2259+76G>A)
c.2275-8G>A (n.2275-8G>A)
c.2437-8G>A (n.2437-8G>A)
c.2518-8G>A (n.2518-8G>A)
c.*537-8G>A (n.*537-8G>A)
c.2758-8G>A (n.2758-8G>A)
c.2332-8G>A (n.2332-8G>A)
c.2356-8G>A (n.2356-8G>A)
n.2487-8G>A
c.2752-8G>A (n.2752-8G>A)
n.2932-8G>A
n.2912-8G>A
c.2404-8G>A (n.2404-8G>A)
n.2897-8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228437G>ACA9741469SLC4A11c.2389-9C>T (n.2389-9C>T)
c.2320-9C>T (n.2320-9C>T)
c.2259+75C>T (n.2259+75C>T)
c.2275-9C>T (n.2275-9C>T)
c.2437-9C>T (n.2437-9C>T)
c.2518-9C>T (n.2518-9C>T)
c.*537-9C>T (n.*537-9C>T)
c.2758-9C>T (n.2758-9C>T)
c.2332-9C>T (n.2332-9C>T)
c.2356-9C>T (n.2356-9C>T)
n.2487-9C>T
c.2752-9C>T (n.2752-9C>T)
n.2932-9C>T
n.2912-9C>T
c.2404-9C>T (n.2404-9C>T)
n.2897-9C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228437G>CCA9741470SLC4A11c.2389-9C>G (n.2389-9C>G)
c.2320-9C>G (n.2320-9C>G)
c.2259+75C>G (n.2259+75C>G)
c.2275-9C>G (n.2275-9C>G)
c.2437-9C>G (n.2437-9C>G)
c.2518-9C>G (n.2518-9C>G)
c.*537-9C>G (n.*537-9C>G)
c.2758-9C>G (n.2758-9C>G)
c.2332-9C>G (n.2332-9C>G)
c.2356-9C>G (n.2356-9C>G)
n.2487-9C>G
c.2752-9C>G (n.2752-9C>G)
n.2932-9C>G
n.2912-9C>G
c.2404-9C>G (n.2404-9C>G)
n.2897-9C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228437G=CA2346474992SLC4A11c.2389-9C= (n.2389-9C=)
c.2320-9C= (n.2320-9C=)
c.2259+75C= (n.2259+75C=)
c.2275-9C= (n.2275-9C=)
c.2437-9C= (n.2437-9C=)
c.2518-9C= (n.2518-9C=)
c.*537-9C= (n.*537-9C=)
c.2758-9C= (n.2758-9C=)
c.2332-9C= (n.2332-9C=)
c.2356-9C= (n.2356-9C=)
n.2487-9C=
c.2752-9C= (n.2752-9C=)
n.2932-9C=
n.2912-9C=
c.2404-9C= (n.2404-9C=)
n.2897-9C=
20g.3228437G>TCA2580618405SLC4A11c.2389-9C>A (n.2389-9C>A)
c.2320-9C>A (n.2320-9C>A)
c.2259+75C>A (n.2259+75C>A)
c.2275-9C>A (n.2275-9C>A)
c.2437-9C>A (n.2437-9C>A)
c.2518-9C>A (n.2518-9C>A)
c.*537-9C>A (n.*537-9C>A)
c.2758-9C>A (n.2758-9C>A)
c.2332-9C>A (n.2332-9C>A)
c.2356-9C>A (n.2356-9C>A)
n.2487-9C>A
c.2752-9C>A (n.2752-9C>A)
n.2932-9C>A
n.2912-9C>A
c.2404-9C>A (n.2404-9C>A)
n.2897-9C>A
20g.3228438G>ACA2651691203SLC4A11c.2389-10C>T (n.2389-10C>T)
c.2320-10C>T (n.2320-10C>T)
c.2259+74C>T (n.2259+74C>T)
c.2275-10C>T (n.2275-10C>T)
c.2437-10C>T (n.2437-10C>T)
c.2518-10C>T (n.2518-10C>T)
c.*537-10C>T (n.*537-10C>T)
c.2758-10C>T (n.2758-10C>T)
c.2332-10C>T (n.2332-10C>T)
c.2356-10C>T (n.2356-10C>T)
n.2487-10C>T
c.2752-10C>T (n.2752-10C>T)
n.2932-10C>T
n.2912-10C>T
c.2404-10C>T (n.2404-10C>T)
n.2897-10C>T
 gnomAD v4
20g.3228438G>CCA2651691204SLC4A11c.2389-10C>G (n.2389-10C>G)
c.2320-10C>G (n.2320-10C>G)
c.2259+74C>G (n.2259+74C>G)
c.2275-10C>G (n.2275-10C>G)
c.2437-10C>G (n.2437-10C>G)
c.2518-10C>G (n.2518-10C>G)
c.*537-10C>G (n.*537-10C>G)
c.2758-10C>G (n.2758-10C>G)
c.2332-10C>G (n.2332-10C>G)
c.2356-10C>G (n.2356-10C>G)
n.2487-10C>G
c.2752-10C>G (n.2752-10C>G)
n.2932-10C>G
n.2912-10C>G
c.2404-10C>G (n.2404-10C>G)
n.2897-10C>G
 ClinVar gnomAD v4
20g.3228438G>TCA2651691205SLC4A11c.2389-10C>A (n.2389-10C>A)
c.2320-10C>A (n.2320-10C>A)
c.2259+74C>A (n.2259+74C>A)
c.2275-10C>A (n.2275-10C>A)
c.2437-10C>A (n.2437-10C>A)
c.2518-10C>A (n.2518-10C>A)
c.*537-10C>A (n.*537-10C>A)
c.2758-10C>A (n.2758-10C>A)
c.2332-10C>A (n.2332-10C>A)
c.2356-10C>A (n.2356-10C>A)
n.2487-10C>A
c.2752-10C>A (n.2752-10C>A)
n.2932-10C>A
n.2912-10C>A
c.2404-10C>A (n.2404-10C>A)
n.2897-10C>A
 gnomAD v4
20g.3228439C>ACA634329260SLC4A11c.2389-11G>T (n.2389-11G>T)
c.2320-11G>T (n.2320-11G>T)
c.2259+73G>T (n.2259+73G>T)
c.2275-11G>T (n.2275-11G>T)
c.2437-11G>T (n.2437-11G>T)
c.2518-11G>T (n.2518-11G>T)
c.*537-11G>T (n.*537-11G>T)
c.2758-11G>T (n.2758-11G>T)
c.2332-11G>T (n.2332-11G>T)
c.2356-11G>T (n.2356-11G>T)
n.2487-11G>T
c.2752-11G>T (n.2752-11G>T)
n.2932-11G>T
n.2912-11G>T
c.2404-11G>T (n.2404-11G>T)
n.2897-11G>T
 dbSNP gnomAD v2 gnomAD v4
20g.3228439C=CA2346474993SLC4A11c.2389-11G= (n.2389-11G=)
c.2320-11G= (n.2320-11G=)
c.2259+73G= (n.2259+73G=)
c.2275-11G= (n.2275-11G=)
c.2437-11G= (n.2437-11G=)
c.2518-11G= (n.2518-11G=)
c.*537-11G= (n.*537-11G=)
c.2758-11G= (n.2758-11G=)
c.2332-11G= (n.2332-11G=)
c.2356-11G= (n.2356-11G=)
n.2487-11G=
c.2752-11G= (n.2752-11G=)
n.2932-11G=
n.2912-11G=
c.2404-11G= (n.2404-11G=)
n.2897-11G=
20g.3228439C>GCA743609263SLC4A11c.2389-11G>C (n.2389-11G>C)
c.2320-11G>C (n.2320-11G>C)
c.2259+73G>C (n.2259+73G>C)
c.2275-11G>C (n.2275-11G>C)
c.2437-11G>C (n.2437-11G>C)
c.2518-11G>C (n.2518-11G>C)
c.*537-11G>C (n.*537-11G>C)
c.2758-11G>C (n.2758-11G>C)
c.2332-11G>C (n.2332-11G>C)
c.2356-11G>C (n.2356-11G>C)
n.2487-11G>C
c.2752-11G>C (n.2752-11G>C)
n.2932-11G>C
n.2912-11G>C
c.2404-11G>C (n.2404-11G>C)
n.2897-11G>C
 dbSNP
20g.3228439C>TCA310984891SLC4A11c.2389-11G>A (n.2389-11G>A)
c.2320-11G>A (n.2320-11G>A)
c.2259+73G>A (n.2259+73G>A)
c.2275-11G>A (n.2275-11G>A)
c.2437-11G>A (n.2437-11G>A)
c.2518-11G>A (n.2518-11G>A)
c.*537-11G>A (n.*537-11G>A)
c.2758-11G>A (n.2758-11G>A)
c.2332-11G>A (n.2332-11G>A)
c.2356-11G>A (n.2356-11G>A)
n.2487-11G>A
c.2752-11G>A (n.2752-11G>A)
n.2932-11G>A
n.2912-11G>A
c.2404-11G>A (n.2404-11G>A)
n.2897-11G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228441G>CCA2651691206SLC4A11c.2389-13C>G (n.2389-13C>G)
c.2320-13C>G (n.2320-13C>G)
c.2259+71C>G (n.2259+71C>G)
c.2275-13C>G (n.2275-13C>G)
c.2437-13C>G (n.2437-13C>G)
c.2518-13C>G (n.2518-13C>G)
c.*537-13C>G (n.*537-13C>G)
c.2758-13C>G (n.2758-13C>G)
c.2332-13C>G (n.2332-13C>G)
c.2356-13C>G (n.2356-13C>G)
n.2487-13C>G
c.2752-13C>G (n.2752-13C>G)
n.2932-13C>G
n.2912-13C>G
c.2404-13C>G (n.2404-13C>G)
n.2897-13C>G
 gnomAD v4
20g.3228442G>ACA743609266SLC4A11c.2389-14C>T (n.2389-14C>T)
c.2320-14C>T (n.2320-14C>T)
c.2259+70C>T (n.2259+70C>T)
c.2275-14C>T (n.2275-14C>T)
c.2437-14C>T (n.2437-14C>T)
c.2518-14C>T (n.2518-14C>T)
c.*537-14C>T (n.*537-14C>T)
c.2758-14C>T (n.2758-14C>T)
c.2332-14C>T (n.2332-14C>T)
c.2356-14C>T (n.2356-14C>T)
n.2487-14C>T
c.2752-14C>T (n.2752-14C>T)
n.2932-14C>T
n.2912-14C>T
c.2404-14C>T (n.2404-14C>T)
n.2897-14C>T
 dbSNP gnomAD v3 gnomAD v4
20g.3228442G=CA2346474994SLC4A11c.2389-14C= (n.2389-14C=)
c.2320-14C= (n.2320-14C=)
c.2259+70C= (n.2259+70C=)
c.2275-14C= (n.2275-14C=)
c.2437-14C= (n.2437-14C=)
c.2518-14C= (n.2518-14C=)
c.*537-14C= (n.*537-14C=)
c.2758-14C= (n.2758-14C=)
c.2332-14C= (n.2332-14C=)
c.2356-14C= (n.2356-14C=)
n.2487-14C=
c.2752-14C= (n.2752-14C=)
n.2932-14C=
n.2912-14C=
c.2404-14C= (n.2404-14C=)
n.2897-14C=
20g.3228443G>ACA9741471SLC4A11c.2389-15C>T (n.2389-15C>T)
c.2320-15C>T (n.2320-15C>T)
c.2259+69C>T (n.2259+69C>T)
c.2275-15C>T (n.2275-15C>T)
c.2437-15C>T (n.2437-15C>T)
c.2518-15C>T (n.2518-15C>T)
c.*537-15C>T (n.*537-15C>T)
c.2758-15C>T (n.2758-15C>T)
c.2332-15C>T (n.2332-15C>T)
c.2356-15C>T (n.2356-15C>T)
n.2487-15C>T
c.2752-15C>T (n.2752-15C>T)
n.2932-15C>T
n.2912-15C>T
c.2404-15C>T (n.2404-15C>T)
n.2897-15C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228443G=CA2346474995SLC4A11c.2389-15C= (n.2389-15C=)
c.2320-15C= (n.2320-15C=)
c.2259+69C= (n.2259+69C=)
c.2275-15C= (n.2275-15C=)
c.2437-15C= (n.2437-15C=)
c.2518-15C= (n.2518-15C=)
c.*537-15C= (n.*537-15C=)
c.2758-15C= (n.2758-15C=)
c.2332-15C= (n.2332-15C=)
c.2356-15C= (n.2356-15C=)
n.2487-15C=
c.2752-15C= (n.2752-15C=)
n.2932-15C=
n.2912-15C=
c.2404-15C= (n.2404-15C=)
n.2897-15C=
20g.3228443G>TCA1014849496SLC4A11c.2389-15C>A (n.2389-15C>A)
c.2320-15C>A (n.2320-15C>A)
c.2259+69C>A (n.2259+69C>A)
c.2275-15C>A (n.2275-15C>A)
c.2437-15C>A (n.2437-15C>A)
c.2518-15C>A (n.2518-15C>A)
c.*537-15C>A (n.*537-15C>A)
c.2758-15C>A (n.2758-15C>A)
c.2332-15C>A (n.2332-15C>A)
c.2356-15C>A (n.2356-15C>A)
n.2487-15C>A
c.2752-15C>A (n.2752-15C>A)
n.2932-15C>A
n.2912-15C>A
c.2404-15C>A (n.2404-15C>A)
n.2897-15C>A
 dbSNP gnomAD v3 gnomAD v4
20g.3228445C=CA2346474996SLC4A11c.2389-17G= (n.2389-17G=)
c.2320-17G= (n.2320-17G=)
c.2259+67G= (n.2259+67G=)
c.2275-17G= (n.2275-17G=)
c.2437-17G= (n.2437-17G=)
c.2518-17G= (n.2518-17G=)
c.*537-17G= (n.*537-17G=)
c.2758-17G= (n.2758-17G=)
c.2332-17G= (n.2332-17G=)
c.2356-17G= (n.2356-17G=)
n.2487-17G=
c.2752-17G= (n.2752-17G=)
n.2932-17G=
n.2912-17G=
c.2404-17G= (n.2404-17G=)
n.2897-17G=
20g.3228445C>TCA2346474997SLC4A11c.2389-17G>A (n.2389-17G>A)
c.2320-17G>A (n.2320-17G>A)
c.2259+67G>A (n.2259+67G>A)
c.2275-17G>A (n.2275-17G>A)
c.2437-17G>A (n.2437-17G>A)
c.2518-17G>A (n.2518-17G>A)
c.*537-17G>A (n.*537-17G>A)
c.2758-17G>A (n.2758-17G>A)
c.2332-17G>A (n.2332-17G>A)
c.2356-17G>A (n.2356-17G>A)
n.2487-17G>A
c.2752-17G>A (n.2752-17G>A)
n.2932-17G>A
n.2912-17G>A
c.2404-17G>A (n.2404-17G>A)
n.2897-17G>A
 ClinVar dbSNP gnomAD v4
20g.3228446C>ACA9741473SLC4A11c.2389-18G>T (n.2389-18G>T)
c.2320-18G>T (n.2320-18G>T)
c.2259+66G>T (n.2259+66G>T)
c.2275-18G>T (n.2275-18G>T)
c.2437-18G>T (n.2437-18G>T)
c.2518-18G>T (n.2518-18G>T)
c.*537-18G>T (n.*537-18G>T)
c.2758-18G>T (n.2758-18G>T)
c.2332-18G>T (n.2332-18G>T)
c.2356-18G>T (n.2356-18G>T)
n.2487-18G>T
c.2752-18G>T (n.2752-18G>T)
n.2932-18G>T
n.2912-18G>T
c.2404-18G>T (n.2404-18G>T)
n.2897-18G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228446C=CA2346474998SLC4A11c.2389-18G= (n.2389-18G=)
c.2320-18G= (n.2320-18G=)
c.2259+66G= (n.2259+66G=)
c.2275-18G= (n.2275-18G=)
c.2437-18G= (n.2437-18G=)
c.2518-18G= (n.2518-18G=)
c.*537-18G= (n.*537-18G=)
c.2758-18G= (n.2758-18G=)
c.2332-18G= (n.2332-18G=)
c.2356-18G= (n.2356-18G=)
n.2487-18G=
c.2752-18G= (n.2752-18G=)
n.2932-18G=
n.2912-18G=
c.2404-18G= (n.2404-18G=)
n.2897-18G=
20g.3228446C>TCA9741472SLC4A11c.2389-18G>A (n.2389-18G>A)
c.2320-18G>A (n.2320-18G>A)
c.2259+66G>A (n.2259+66G>A)
c.2275-18G>A (n.2275-18G>A)
c.2437-18G>A (n.2437-18G>A)
c.2518-18G>A (n.2518-18G>A)
c.*537-18G>A (n.*537-18G>A)
c.2758-18G>A (n.2758-18G>A)
c.2332-18G>A (n.2332-18G>A)
c.2356-18G>A (n.2356-18G>A)
n.2487-18G>A
c.2752-18G>A (n.2752-18G>A)
n.2932-18G>A
n.2912-18G>A
c.2404-18G>A (n.2404-18G>A)
n.2897-18G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228447G>ACA9741474SLC4A11c.2389-19C>T (n.2389-19C>T)
c.2320-19C>T (n.2320-19C>T)
c.2259+65C>T (n.2259+65C>T)
c.2275-19C>T (n.2275-19C>T)
c.2437-19C>T (n.2437-19C>T)
c.2518-19C>T (n.2518-19C>T)
c.*537-19C>T (n.*537-19C>T)
c.2758-19C>T (n.2758-19C>T)
c.2332-19C>T (n.2332-19C>T)
c.2356-19C>T (n.2356-19C>T)
n.2487-19C>T
c.2752-19C>T (n.2752-19C>T)
n.2932-19C>T
n.2912-19C>T
c.2404-19C>T (n.2404-19C>T)
n.2897-19C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228447G>CCA2580097993SLC4A11c.2389-19C>G (n.2389-19C>G)
c.2320-19C>G (n.2320-19C>G)
c.2259+65C>G (n.2259+65C>G)
c.2275-19C>G (n.2275-19C>G)
c.2437-19C>G (n.2437-19C>G)
c.2518-19C>G (n.2518-19C>G)
c.*537-19C>G (n.*537-19C>G)
c.2758-19C>G (n.2758-19C>G)
c.2332-19C>G (n.2332-19C>G)
c.2356-19C>G (n.2356-19C>G)
n.2487-19C>G
c.2752-19C>G (n.2752-19C>G)
n.2932-19C>G
n.2912-19C>G
c.2404-19C>G (n.2404-19C>G)
n.2897-19C>G
 ClinVar gnomAD v4
20g.3228447G=CA2346474999SLC4A11c.2389-19C= (n.2389-19C=)
c.2320-19C= (n.2320-19C=)
c.2259+65C= (n.2259+65C=)
c.2275-19C= (n.2275-19C=)
c.2437-19C= (n.2437-19C=)
c.2518-19C= (n.2518-19C=)
c.*537-19C= (n.*537-19C=)
c.2758-19C= (n.2758-19C=)
c.2332-19C= (n.2332-19C=)
c.2356-19C= (n.2356-19C=)
n.2487-19C=
c.2752-19C= (n.2752-19C=)
n.2932-19C=
n.2912-19C=
c.2404-19C= (n.2404-19C=)
n.2897-19C=
20g.3228449delCA2651691207SLC4A11c.2389-19del (n.2389-19del)
c.2320-19del (n.2320-19del)
c.2259+65del (n.2259+65del)
c.2275-19del (n.2275-19del)
c.2437-19del (n.2437-19del)
c.2518-19del (n.2518-19del)
c.*537-19del (n.*537-19del)
c.2758-19del (n.2758-19del)
c.2332-19del (n.2332-19del)
c.2356-19del (n.2356-19del)
n.2487-19del
c.2752-19del (n.2752-19del)
n.2932-19del
n.2912-19del
c.2404-19del (n.2404-19del)
n.2897-19del
 ClinVar gnomAD v4
20g.3228448G>ACA2346475001SLC4A11c.2389-20C>T (n.2389-20C>T)
c.2320-20C>T (n.2320-20C>T)
c.2259+64C>T (n.2259+64C>T)
c.2275-20C>T (n.2275-20C>T)
c.2437-20C>T (n.2437-20C>T)
c.2518-20C>T (n.2518-20C>T)
c.*537-20C>T (n.*537-20C>T)
c.2758-20C>T (n.2758-20C>T)
c.2332-20C>T (n.2332-20C>T)
c.2356-20C>T (n.2356-20C>T)
n.2487-20C>T
c.2752-20C>T (n.2752-20C>T)
n.2932-20C>T
n.2912-20C>T
c.2404-20C>T (n.2404-20C>T)
n.2897-20C>T
 dbSNP gnomAD v4
20g.3228448G>CCA310984913SLC4A11c.2389-20C>G (n.2389-20C>G)
c.2320-20C>G (n.2320-20C>G)
c.2259+64C>G (n.2259+64C>G)
c.2275-20C>G (n.2275-20C>G)
c.2437-20C>G (n.2437-20C>G)
c.2518-20C>G (n.2518-20C>G)
c.*537-20C>G (n.*537-20C>G)
c.2758-20C>G (n.2758-20C>G)
c.2332-20C>G (n.2332-20C>G)
c.2356-20C>G (n.2356-20C>G)
n.2487-20C>G
c.2752-20C>G (n.2752-20C>G)
n.2932-20C>G
n.2912-20C>G
c.2404-20C>G (n.2404-20C>G)
n.2897-20C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228448G=CA2346475000SLC4A11c.2389-20C= (n.2389-20C=)
c.2320-20C= (n.2320-20C=)
c.2259+64C= (n.2259+64C=)
c.2275-20C= (n.2275-20C=)
c.2437-20C= (n.2437-20C=)
c.2518-20C= (n.2518-20C=)
c.*537-20C= (n.*537-20C=)
c.2758-20C= (n.2758-20C=)
c.2332-20C= (n.2332-20C=)
c.2356-20C= (n.2356-20C=)
n.2487-20C=
c.2752-20C= (n.2752-20C=)
n.2932-20C=
n.2912-20C=
c.2404-20C= (n.2404-20C=)
n.2897-20C=
20g.3228449G>ACA310984914SLC4A11c.2389-21C>T (n.2389-21C>T)
c.2320-21C>T (n.2320-21C>T)
c.2259+63C>T (n.2259+63C>T)
c.2275-21C>T (n.2275-21C>T)
c.2437-21C>T (n.2437-21C>T)
c.2518-21C>T (n.2518-21C>T)
c.*537-21C>T (n.*537-21C>T)
c.2758-21C>T (n.2758-21C>T)
c.2332-21C>T (n.2332-21C>T)
c.2356-21C>T (n.2356-21C>T)
n.2487-21C>T
c.2752-21C>T (n.2752-21C>T)
n.2932-21C>T
n.2912-21C>T
c.2404-21C>T (n.2404-21C>T)
n.2897-21C>T
 dbSNP gnomAD v3 gnomAD v4
20g.3228449G>CCA743609278SLC4A11c.2389-21C>G (n.2389-21C>G)
c.2320-21C>G (n.2320-21C>G)
c.2259+63C>G (n.2259+63C>G)
c.2275-21C>G (n.2275-21C>G)
c.2437-21C>G (n.2437-21C>G)
c.2518-21C>G (n.2518-21C>G)
c.*537-21C>G (n.*537-21C>G)
c.2758-21C>G (n.2758-21C>G)
c.2332-21C>G (n.2332-21C>G)
c.2356-21C>G (n.2356-21C>G)
n.2487-21C>G
c.2752-21C>G (n.2752-21C>G)
n.2932-21C>G
n.2912-21C>G
c.2404-21C>G (n.2404-21C>G)
n.2897-21C>G
 dbSNP
20g.3228449G=CA2346475002SLC4A11c.2389-21C= (n.2389-21C=)
c.2320-21C= (n.2320-21C=)
c.2259+63C= (n.2259+63C=)
c.2275-21C= (n.2275-21C=)
c.2437-21C= (n.2437-21C=)
c.2518-21C= (n.2518-21C=)
c.*537-21C= (n.*537-21C=)
c.2758-21C= (n.2758-21C=)
c.2332-21C= (n.2332-21C=)
c.2356-21C= (n.2356-21C=)
n.2487-21C=
c.2752-21C= (n.2752-21C=)
n.2932-21C=
n.2912-21C=
c.2404-21C= (n.2404-21C=)
n.2897-21C=
20g.3228450T>CCA634329234SLC4A11c.2389-22A>G (n.2389-22A>G)
c.2320-22A>G (n.2320-22A>G)
c.2259+62A>G (n.2259+62A>G)
c.2275-22A>G (n.2275-22A>G)
c.2437-22A>G (n.2437-22A>G)
c.2518-22A>G (n.2518-22A>G)
c.*537-22A>G (n.*537-22A>G)
c.2758-22A>G (n.2758-22A>G)
c.2332-22A>G (n.2332-22A>G)
c.2356-22A>G (n.2356-22A>G)
n.2487-22A>G
c.2752-22A>G (n.2752-22A>G)
n.2932-22A>G
n.2912-22A>G
c.2404-22A>G (n.2404-22A>G)
n.2897-22A>G
 dbSNP gnomAD v2 gnomAD v4
20g.3228450T=CA2346475003SLC4A11c.2389-22A= (n.2389-22A=)
c.2320-22A= (n.2320-22A=)
c.2259+62A= (n.2259+62A=)
c.2275-22A= (n.2275-22A=)
c.2437-22A= (n.2437-22A=)
c.2518-22A= (n.2518-22A=)
c.*537-22A= (n.*537-22A=)
c.2758-22A= (n.2758-22A=)
c.2332-22A= (n.2332-22A=)
c.2356-22A= (n.2356-22A=)
n.2487-22A=
c.2752-22A= (n.2752-22A=)
n.2932-22A=
n.2912-22A=
c.2404-22A= (n.2404-22A=)
n.2897-22A=

Number of alleles fetched