Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44251205delCA2638190527SLC4A1c.2610del (p.Arg871AlafsTer?)
c.1512del (p.Arg505AlafsTer?)
c.2415del (p.Arg806AlafsTer?)
c.2520del (p.Arg841AlafsTer?)
 gnomAD v4
17g.44251205C>ACA290925045SLC4A1c.2609G>T (p.Arg870Leu)
c.1511G>T (p.Arg504Leu)
c.2414G>T (p.Arg805Leu)
c.2519G>T (p.Arg840Leu)
 dbSNP gnomAD v4
17g.44251205C=CA2261306711SLC4A1c.2609G= (p.Arg870=)
c.1511G= (p.Arg504=)
c.2414G= (p.Arg805=)
c.2519G= (p.Arg840=)
17g.44251205C>GCA399779600SLC4A1c.2609G>C (p.Arg870Pro)
c.1511G>C (p.Arg504Pro)
c.2414G>C (p.Arg805Pro)
c.2519G>C (p.Arg840Pro)
17g.44251205C>TCA8599992SLC4A1c.2609G>A (p.Arg870Gln)
c.1511G>A (p.Arg504Gln)
c.2414G>A (p.Arg805Gln)
c.2519G>A (p.Arg840Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44251206G>ACA127403SLC4A1c.2608C>T (p.Arg870Trp)
c.1510C>T (p.Arg504Trp)
c.2413C>T (p.Arg805Trp)
c.2518C>T (p.Arg840Trp)
 ClinVar dbSNP gnomAD v4
17g.44251206G>CCA399779606SLC4A1c.2608C>G (p.Arg870Gly)
c.1510C>G (p.Arg504Gly)
c.2413C>G (p.Arg805Gly)
c.2518C>G (p.Arg840Gly)
17g.44251206G=CA2261306712SLC4A1c.2608C= (p.Arg870=)
c.1510C= (p.Arg504=)
c.2413C= (p.Arg805=)
c.2518C= (p.Arg840=)
17g.44251206G>TCA500618532SLC4A1c.2608C>A (p.Arg870=)
c.1510C>A (p.Arg504=)
c.2413C>A (p.Arg805=)
c.2518C>A (p.Arg840=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44251207C>ACA500618533SLC4A1c.2607G>T (p.Leu869=)
c.1509G>T (p.Leu503=)
c.2412G>T (p.Leu804=)
c.2517G>T (p.Leu839=)
17g.44251207C>GCA500618535SLC4A1c.2607G>C (p.Leu869=)
c.1509G>C (p.Leu503=)
c.2412G>C (p.Leu804=)
c.2517G>C (p.Leu839=)
17g.44251207C>TCA500618536SLC4A1c.2607G>A (p.Leu869=)
c.1509G>A (p.Leu503=)
c.2412G>A (p.Leu804=)
c.2517G>A (p.Leu839=)
17g.44251208A=CA2261306713SLC4A1c.2606T= (p.Leu869=)
c.1508T= (p.Leu503=)
c.2411T= (p.Leu804=)
c.2516T= (p.Leu839=)
17g.44251208A>CCA399779615SLC4A1c.2606T>G (p.Leu869Arg)
c.1508T>G (p.Leu503Arg)
c.2411T>G (p.Leu804Arg)
c.2516T>G (p.Leu839Arg)
17g.44251208A>GCA399779612SLC4A1c.2606T>C (p.Leu869Pro)
c.1508T>C (p.Leu503Pro)
c.2411T>C (p.Leu804Pro)
c.2516T>C (p.Leu839Pro)
17g.44251208A>TCA399779610SLC4A1c.2606T>A (p.Leu869Gln)
c.1508T>A (p.Leu503Gln)
c.2411T>A (p.Leu804Gln)
c.2516T>A (p.Leu839Gln)
 dbSNP gnomAD v2 gnomAD v4
17g.44251209G>ACA500618537SLC4A1c.2605C>T (p.Leu869=)
c.1507C>T (p.Leu503=)
c.2410C>T (p.Leu804=)
c.2515C>T (p.Leu839=)
17g.44251209G>CCA399779616SLC4A1c.2605C>G (p.Leu869Val)
c.1507C>G (p.Leu503Val)
c.2410C>G (p.Leu804Val)
c.2515C>G (p.Leu839Val)
17g.44251209G>TCA399779619SLC4A1c.2605C>A (p.Leu869Met)
c.1507C>A (p.Leu503Met)
c.2410C>A (p.Leu804Met)
c.2515C>A (p.Leu839Met)
17g.44251210C>ACA500618540SLC4A1c.2604G>T (p.Pro868=)
c.1506G>T (p.Pro502=)
c.2409G>T (p.Pro803=)
c.2514G>T (p.Pro838=)
 gnomAD v4
17g.44251210C=CA2261306714SLC4A1c.2604G= (p.Pro868=)
c.1506G= (p.Pro502=)
c.2409G= (p.Pro803=)
c.2514G= (p.Pro838=)
17g.44251210C>GCA500618541SLC4A1c.2604G>C (p.Pro868=)
c.1506G>C (p.Pro502=)
c.2409G>C (p.Pro803=)
c.2514G>C (p.Pro838=)
17g.44251210C>TCA8599993SLC4A1c.2604G>A (p.Pro868=)
c.1506G>A (p.Pro502=)
c.2409G>A (p.Pro803=)
c.2514G>A (p.Pro838=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44251211G>ACA127410SLC4A1c.2603C>T (p.Pro868Leu)
c.1505C>T (p.Pro502Leu)
c.2408C>T (p.Pro803Leu)
c.2513C>T (p.Pro838Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44251211G>CCA399779626SLC4A1c.2603C>G (p.Pro868Arg)
c.1505C>G (p.Pro502Arg)
c.2408C>G (p.Pro803Arg)
c.2513C>G (p.Pro838Arg)
17g.44251211G=CA2261306715SLC4A1c.2603C= (p.Pro868=)
c.1505C= (p.Pro502=)
c.2408C= (p.Pro803=)
c.2513C= (p.Pro838=)
17g.44251211G>TCA399779631SLC4A1c.2603C>A (p.Pro868Gln)
c.1505C>A (p.Pro502Gln)
c.2408C>A (p.Pro803Gln)
c.2513C>A (p.Pro838Gln)
17g.44251212G>ACA399779632SLC4A1c.2602C>T (p.Pro868Ser)
c.1504C>T (p.Pro502Ser)
c.2407C>T (p.Pro803Ser)
c.2512C>T (p.Pro838Ser)
17g.44251212G>CCA399779635SLC4A1c.2602C>G (p.Pro868Ala)
c.1504C>G (p.Pro502Ala)
c.2407C>G (p.Pro803Ala)
c.2512C>G (p.Pro838Ala)
17g.44251212G>TCA399779637SLC4A1c.2602C>A (p.Pro868Thr)
c.1504C>A (p.Pro502Thr)
c.2407C>A (p.Pro803Thr)
c.2512C>A (p.Pro838Thr)
17g.44251213C>ACA500618545SLC4A1c.2601G>T (p.Val867=)
c.1503G>T (p.Val501=)
c.2406G>T (p.Val802=)
c.2511G>T (p.Val837=)
17g.44251213C>GCA500618546SLC4A1c.2601G>C (p.Val867=)
c.1503G>C (p.Val501=)
c.2406G>C (p.Val802=)
c.2511G>C (p.Val837=)
17g.44251213C>TCA500618547SLC4A1c.2601G>A (p.Val867=)
c.1503G>A (p.Val501=)
c.2406G>A (p.Val802=)
c.2511G>A (p.Val837=)
17g.44251214A=CA2261306716SLC4A1c.2600T= (p.Val867=)
c.1502T= (p.Val501=)
c.2405T= (p.Val802=)
c.2510T= (p.Val837=)
17g.44251214A>CCA399779640SLC4A1c.2600T>G (p.Val867Gly)
c.1502T>G (p.Val501Gly)
c.2405T>G (p.Val802Gly)
c.2510T>G (p.Val837Gly)
 dbSNP
17g.44251214A>GCA399779641SLC4A1c.2600T>C (p.Val867Ala)
c.1502T>C (p.Val501Ala)
c.2405T>C (p.Val802Ala)
c.2510T>C (p.Val837Ala)
17g.44251214A>TCA399779645SLC4A1c.2600T>A (p.Val867Glu)
c.1502T>A (p.Val501Glu)
c.2405T>A (p.Val802Glu)
c.2510T>A (p.Val837Glu)
17g.44251215C>ACA399779648SLC4A1c.2599G>T (p.Val867Leu)
c.1501G>T (p.Val501Leu)
c.2404G>T (p.Val802Leu)
c.2509G>T (p.Val837Leu)
17g.44251215C>GCA399779649SLC4A1c.2599G>C (p.Val867Leu)
c.1501G>C (p.Val501Leu)
c.2404G>C (p.Val802Leu)
c.2509G>C (p.Val837Leu)
17g.44251215C>TCA399779651SLC4A1c.2599G>A (p.Val867Met)
c.1501G>A (p.Val501Met)
c.2404G>A (p.Val802Met)
c.2509G>A (p.Val837Met)
17g.44251216A=CA2261306717SLC4A1c.2598T= (p.Thr866=)
c.1500T= (p.Thr500=)
c.2403T= (p.Thr801=)
c.2508T= (p.Thr836=)
17g.44251216A>CCA500618551SLC4A1c.2598T>G (p.Thr866=)
c.1500T>G (p.Thr500=)
c.2403T>G (p.Thr801=)
c.2508T>G (p.Thr836=)
17g.44251216A>GCA290925063SLC4A1c.2598T>C (p.Thr866=)
c.1500T>C (p.Thr500=)
c.2403T>C (p.Thr801=)
c.2508T>C (p.Thr836=)
 dbSNP
17g.44251216A>TCA500618552SLC4A1c.2598T>A (p.Thr866=)
c.1500T>A (p.Thr500=)
c.2403T>A (p.Thr801=)
c.2508T>A (p.Thr836=)
17g.44251217G>ACA399779659SLC4A1c.2597C>T (p.Thr866Ile)
c.1499C>T (p.Thr500Ile)
c.2402C>T (p.Thr801Ile)
c.2507C>T (p.Thr836Ile)
 gnomAD v4
17g.44251217G>CCA399779655SLC4A1c.2597C>G (p.Thr866Ser)
c.1499C>G (p.Thr500Ser)
c.2402C>G (p.Thr801Ser)
c.2507C>G (p.Thr836Ser)
17g.44251217G>TCA399779658SLC4A1c.2597C>A (p.Thr866Asn)
c.1499C>A (p.Thr500Asn)
c.2402C>A (p.Thr801Asn)
c.2507C>A (p.Thr836Asn)
17g.44251218T>ACA399779661SLC4A1c.2596A>T (p.Thr866Ser)
c.1498A>T (p.Thr500Ser)
c.2401A>T (p.Thr801Ser)
c.2506A>T (p.Thr836Ser)
17g.44251218T>CCA399779664SLC4A1c.2596A>G (p.Thr866Ala)
c.1498A>G (p.Thr500Ala)
c.2401A>G (p.Thr801Ala)
c.2506A>G (p.Thr836Ala)
17g.44251218T>GCA399779666SLC4A1c.2596A>C (p.Thr866Pro)
c.1498A>C (p.Thr500Pro)
c.2401A>C (p.Thr801Pro)
c.2506A>C (p.Thr836Pro)
17g.44251219G>ACA500618559SLC4A1c.2595C>T (p.Leu865=)
c.1497C>T (p.Leu499=)
c.2400C>T (p.Leu800=)
c.2505C>T (p.Leu835=)
17g.44251219G>CCA500618562SLC4A1c.2595C>G (p.Leu865=)
c.1497C>G (p.Leu499=)
c.2400C>G (p.Leu800=)
c.2505C>G (p.Leu835=)
17g.44251219G>TCA500618558SLC4A1c.2595C>A (p.Leu865=)
c.1497C>A (p.Leu499=)
c.2400C>A (p.Leu800=)
c.2505C>A (p.Leu835=)
17g.44251220A>CCA399779671SLC4A1c.2594T>G (p.Leu865Arg)
c.1496T>G (p.Leu499Arg)
c.2399T>G (p.Leu800Arg)
c.2504T>G (p.Leu835Arg)
17g.44251220A>GCA399779678SLC4A1c.2594T>C (p.Leu865Pro)
c.1496T>C (p.Leu499Pro)
c.2399T>C (p.Leu800Pro)
c.2504T>C (p.Leu835Pro)
17g.44251220A>TCA399779681SLC4A1c.2594T>A (p.Leu865His)
c.1496T>A (p.Leu499His)
c.2399T>A (p.Leu800His)
c.2504T>A (p.Leu835His)
17g.44251221G>ACA399779687SLC4A1c.2593C>T (p.Leu865Phe)
c.1495C>T (p.Leu499Phe)
c.2398C>T (p.Leu800Phe)
c.2503C>T (p.Leu835Phe)
17g.44251221G>CCA399779688SLC4A1c.2593C>G (p.Leu865Val)
c.1495C>G (p.Leu499Val)
c.2398C>G (p.Leu800Val)
c.2503C>G (p.Leu835Val)
17g.44251221G>TCA399779690SLC4A1c.2593C>A (p.Leu865Ile)
c.1495C>A (p.Leu499Ile)
c.2398C>A (p.Leu800Ile)
c.2503C>A (p.Leu835Ile)
17g.44251222G>ACA8599994SLC4A1c.2592C>T (p.Ile864=)
c.1494C>T (p.Ile498=)
c.2397C>T (p.Ile799=)
c.2502C>T (p.Ile834=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44251222G>CCA399779694SLC4A1c.2592C>G (p.Ile864Met)
c.1494C>G (p.Ile498Met)
c.2397C>G (p.Ile799Met)
c.2502C>G (p.Ile834Met)
17g.44251222G=CA2261306718SLC4A1c.2592C= (p.Ile864=)
c.1494C= (p.Ile498=)
c.2397C= (p.Ile799=)
c.2502C= (p.Ile834=)
17g.44251222G>TCA500618567SLC4A1c.2592C>A (p.Ile864=)
c.1494C>A (p.Ile498=)
c.2397C>A (p.Ile799=)
c.2502C>A (p.Ile834=)
 gnomAD v4
17g.44251223A>CCA399779703SLC4A1c.2591T>G (p.Ile864Ser)
c.1493T>G (p.Ile498Ser)
c.2396T>G (p.Ile799Ser)
c.2501T>G (p.Ile834Ser)
17g.44251223A>GCA399779701SLC4A1c.2591T>C (p.Ile864Thr)
c.1493T>C (p.Ile498Thr)
c.2396T>C (p.Ile799Thr)
c.2501T>C (p.Ile834Thr)
17g.44251223A>TCA399779698SLC4A1c.2591T>A (p.Ile864Asn)
c.1493T>A (p.Ile498Asn)
c.2396T>A (p.Ile799Asn)
c.2501T>A (p.Ile834Asn)
17g.44251224T>ACA399779707SLC4A1c.2590A>T (p.Ile864Phe)
c.1492A>T (p.Ile498Phe)
c.2395A>T (p.Ile799Phe)
c.2500A>T (p.Ile834Phe)
17g.44251224T>CCA399779710SLC4A1c.2590A>G (p.Ile864Val)
c.1492A>G (p.Ile498Val)
c.2395A>G (p.Ile799Val)
c.2500A>G (p.Ile834Val)
 dbSNP
17g.44251224T>GCA399779712SLC4A1c.2590A>C (p.Ile864Leu)
c.1492A>C (p.Ile498Leu)
c.2395A>C (p.Ile799Leu)
c.2500A>C (p.Ile834Leu)
17g.44251224T=CA2261306719SLC4A1c.2590A= (p.Ile864=)
c.1492A= (p.Ile498=)
c.2395A= (p.Ile799=)
c.2500A= (p.Ile834=)
17g.44251225G>ACA500618570SLC4A1c.2589C>T (p.Leu863=)
c.1491C>T (p.Leu497=)
c.2394C>T (p.Leu798=)
c.2499C>T (p.Leu833=)
 ClinVar
17g.44251225G>CCA500618571SLC4A1c.2589C>G (p.Leu863=)
c.1491C>G (p.Leu497=)
c.2394C>G (p.Leu798=)
c.2499C>G (p.Leu833=)
17g.44251225G>TCA500618573SLC4A1c.2589C>A (p.Leu863=)
c.1491C>A (p.Leu497=)
c.2394C>A (p.Leu798=)
c.2499C>A (p.Leu833=)
17g.44251226A=CA2261306720SLC4A1c.2588T= (p.Leu863=)
c.1490T= (p.Leu497=)
c.2393T= (p.Leu798=)
c.2498T= (p.Leu833=)
17g.44251226A>CCA399779716SLC4A1c.2588T>G (p.Leu863Arg)
c.1490T>G (p.Leu497Arg)
c.2393T>G (p.Leu798Arg)
c.2498T>G (p.Leu833Arg)
17g.44251226A>GCA8599995SLC4A1c.2588T>C (p.Leu863Pro)
c.1490T>C (p.Leu497Pro)
c.2393T>C (p.Leu798Pro)
c.2498T>C (p.Leu833Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44251226A>TCA399779719SLC4A1c.2588T>A (p.Leu863His)
c.1490T>A (p.Leu497His)
c.2393T>A (p.Leu798His)
c.2498T>A (p.Leu833His)
17g.44251227G>ACA399779721SLC4A1c.2587C>T (p.Leu863Phe)
c.1489C>T (p.Leu497Phe)
c.2392C>T (p.Leu798Phe)
c.2497C>T (p.Leu833Phe)
 COSMIC
17g.44251227G>CCA399779724SLC4A1c.2587C>G (p.Leu863Val)
c.1489C>G (p.Leu497Val)
c.2392C>G (p.Leu798Val)
c.2497C>G (p.Leu833Val)
17g.44251227G>TCA399779726SLC4A1c.2587C>A (p.Leu863Ile)
c.1489C>A (p.Leu497Ile)
c.2392C>A (p.Leu798Ile)
c.2497C>A (p.Leu833Ile)
17g.44251228G>ACA500618306SLC4A1c.2586C>T (p.Val862=)
c.1488C>T (p.Val496=)
c.2391C>T (p.Val797=)
c.2496C>T (p.Val832=)
 dbSNP gnomAD v2 gnomAD v4
17g.44251228G>CCA500618307SLC4A1c.2586C>G (p.Val862=)
c.1488C>G (p.Val496=)
c.2391C>G (p.Val797=)
c.2496C>G (p.Val832=)
17g.44251228G=CA2261306721SLC4A1c.2586C= (p.Val862=)
c.1488C= (p.Val496=)
c.2391C= (p.Val797=)
c.2496C= (p.Val832=)
17g.44251228G>TCA500618308SLC4A1c.2586C>A (p.Val862=)
c.1488C>A (p.Val496=)
c.2391C>A (p.Val797=)
c.2496C>A (p.Val832=)
 ClinVar dbSNP
17g.44251229A>CCA399779729SLC4A1c.2585T>G (p.Val862Gly)
c.1487T>G (p.Val496Gly)
c.2390T>G (p.Val797Gly)
c.2495T>G (p.Val832Gly)
17g.44251229A>GCA399779731SLC4A1c.2585T>C (p.Val862Ala)
c.1487T>C (p.Val496Ala)
c.2390T>C (p.Val797Ala)
c.2495T>C (p.Val832Ala)
17g.44251229A>TCA399779734SLC4A1c.2585T>A (p.Val862Asp)
c.1487T>A (p.Val496Asp)
c.2390T>A (p.Val797Asp)
c.2495T>A (p.Val832Asp)
17g.44251230C>ACA399779741SLC4A1c.2584G>T (p.Val862Phe)
c.1486G>T (p.Val496Phe)
c.2389G>T (p.Val797Phe)
c.2494G>T (p.Val832Phe)
17g.44251230C=CA2261306722SLC4A1c.2584G= (p.Val862=)
c.1486G= (p.Val496=)
c.2389G= (p.Val797=)
c.2494G= (p.Val832=)
17g.44251230C>GCA399779738SLC4A1c.2584G>C (p.Val862Leu)
c.1486G>C (p.Val496Leu)
c.2389G>C (p.Val797Leu)
c.2494G>C (p.Val832Leu)
 gnomAD v4
17g.44251230C>TCA8599996SLC4A1c.2584G>A (p.Val862Ile)
c.1486G>A (p.Val496Ile)
c.2389G>A (p.Val797Ile)
c.2494G>A (p.Val832Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44251231G>ACA500618311SLC4A1c.2583C>T (p.Phe861=)
c.1485C>T (p.Phe495=)
c.2388C>T (p.Phe796=)
c.2493C>T (p.Phe831=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44251231G>CCA399779743SLC4A1c.2583C>G (p.Phe861Leu)
c.1485C>G (p.Phe495Leu)
c.2388C>G (p.Phe796Leu)
c.2493C>G (p.Phe831Leu)
17g.44251231G=CA2261306723SLC4A1c.2583C= (p.Phe861=)
c.1485C= (p.Phe495=)
c.2388C= (p.Phe796=)
c.2493C= (p.Phe831=)
17g.44251231G>TCA399779746SLC4A1c.2583C>A (p.Phe861Leu)
c.1485C>A (p.Phe495Leu)
c.2388C>A (p.Phe796Leu)
c.2493C>A (p.Phe831Leu)
 COSMIC
17g.44251232A>CCA399779750SLC4A1c.2582T>G (p.Phe861Cys)
c.1484T>G (p.Phe495Cys)
c.2387T>G (p.Phe796Cys)
c.2492T>G (p.Phe831Cys)
17g.44251232A>GCA399779751SLC4A1c.2582T>C (p.Phe861Ser)
c.1484T>C (p.Phe495Ser)
c.2387T>C (p.Phe796Ser)
c.2492T>C (p.Phe831Ser)
17g.44251232A>TCA399779753SLC4A1c.2582T>A (p.Phe861Tyr)
c.1484T>A (p.Phe495Tyr)
c.2387T>A (p.Phe796Tyr)
c.2492T>A (p.Phe831Tyr)
17g.44251233A=CA2261306724SLC4A1c.2581T= (p.Phe861=)
c.1483T= (p.Phe495=)
c.2386T= (p.Phe796=)
c.2491T= (p.Phe831=)
17g.44251233A>CCA399779756SLC4A1c.2581T>G (p.Phe861Val)
c.1483T>G (p.Phe495Val)
c.2386T>G (p.Phe796Val)
c.2491T>G (p.Phe831Val)
17g.44251233A>GCA399779759SLC4A1c.2581T>C (p.Phe861Leu)
c.1483T>C (p.Phe495Leu)
c.2386T>C (p.Phe796Leu)
c.2491T>C (p.Phe831Leu)
 dbSNP gnomAD v2
17g.44251233A>TCA399779762SLC4A1c.2581T>A (p.Phe861Ile)
c.1483T>A (p.Phe495Ile)
c.2386T>A (p.Phe796Ile)
c.2491T>A (p.Phe831Ile)
17g.44251234G>ACA290925069SLC4A1c.2580C>T (p.Pro860=)
c.1482C>T (p.Pro494=)
c.2385C>T (p.Pro795=)
c.2490C>T (p.Pro830=)
 dbSNP gnomAD v2 gnomAD v4
17g.44251234G>CCA500618313SLC4A1c.2580C>G (p.Pro860=)
c.1482C>G (p.Pro494=)
c.2385C>G (p.Pro795=)
c.2490C>G (p.Pro830=)
17g.44251234G=CA2261306725SLC4A1c.2580C= (p.Pro860=)
c.1482C= (p.Pro494=)
c.2385C= (p.Pro795=)
c.2490C= (p.Pro830=)
17g.44251234G>TCA500618314SLC4A1c.2580C>A (p.Pro860=)
c.1482C>A (p.Pro494=)
c.2385C>A (p.Pro795=)
c.2490C>A (p.Pro830=)
17g.44251235G>ACA399779766SLC4A1c.2579C>T (p.Pro860Leu)
c.1481C>T (p.Pro494Leu)
c.2384C>T (p.Pro795Leu)
c.2489C>T (p.Pro830Leu)
17g.44251235G>CCA399779769SLC4A1c.2579C>G (p.Pro860Arg)
c.1481C>G (p.Pro494Arg)
c.2384C>G (p.Pro795Arg)
c.2489C>G (p.Pro830Arg)
17g.44251235G>TCA399779771SLC4A1c.2579C>A (p.Pro860His)
c.1481C>A (p.Pro494His)
c.2384C>A (p.Pro795His)
c.2489C>A (p.Pro830His)
17g.44251236G>ACA290925072SLC4A1c.2578C>T (p.Pro860Ser)
c.1480C>T (p.Pro494Ser)
c.2383C>T (p.Pro795Ser)
c.2488C>T (p.Pro830Ser)
 dbSNP
17g.44251236G>CCA399779776SLC4A1c.2578C>G (p.Pro860Ala)
c.1480C>G (p.Pro494Ala)
c.2383C>G (p.Pro795Ala)
c.2488C>G (p.Pro830Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.44251236G=CA2261306726SLC4A1c.2578C= (p.Pro860=)
c.1480C= (p.Pro494=)
c.2383C= (p.Pro795=)
c.2488C= (p.Pro830=)
17g.44251236G>TCA290925081SLC4A1c.2578C>A (p.Pro860Thr)
c.1480C>A (p.Pro494Thr)
c.2383C>A (p.Pro795Thr)
c.2488C>A (p.Pro830Thr)
 dbSNP gnomAD v4
17g.44251237C>ACA500618317SLC4A1c.2577G>T (p.Leu859=)
c.1479G>T (p.Leu493=)
c.2382G>T (p.Leu794=)
c.2487G>T (p.Leu829=)
17g.44251237C>GCA500618318SLC4A1c.2577G>C (p.Leu859=)
c.1479G>C (p.Leu493=)
c.2382G>C (p.Leu794=)
c.2487G>C (p.Leu829=)
17g.44251237C>TCA500618319SLC4A1c.2577G>A (p.Leu859=)
c.1479G>A (p.Leu493=)
c.2382G>A (p.Leu794=)
c.2487G>A (p.Leu829=)
 gnomAD v4
17g.44251238A>CCA399779781SLC4A1c.2576T>G (p.Leu859Arg)
c.1478T>G (p.Leu493Arg)
c.2381T>G (p.Leu794Arg)
c.2486T>G (p.Leu829Arg)
17g.44251238A>GCA399779784SLC4A1c.2576T>C (p.Leu859Pro)
c.1478T>C (p.Leu493Pro)
c.2381T>C (p.Leu794Pro)
c.2486T>C (p.Leu829Pro)
17g.44251238A>TCA399779783SLC4A1c.2576T>A (p.Leu859Gln)
c.1478T>A (p.Leu493Gln)
c.2381T>A (p.Leu794Gln)
c.2486T>A (p.Leu829Gln)
17g.44251239G>ACA500618320SLC4A1c.2575C>T (p.Leu859=)
c.1477C>T (p.Leu493=)
c.2380C>T (p.Leu794=)
c.2485C>T (p.Leu829=)
 dbSNP gnomAD v4
17g.44251239G>CCA399779786SLC4A1c.2575C>G (p.Leu859Val)
c.1477C>G (p.Leu493Val)
c.2380C>G (p.Leu794Val)
c.2485C>G (p.Leu829Val)
17g.44251239G=CA2261306727SLC4A1c.2575C= (p.Leu859=)
c.1477C= (p.Leu493=)
c.2380C= (p.Leu794=)
c.2485C= (p.Leu829=)
17g.44251239G>TCA399779787SLC4A1c.2575C>A (p.Leu859Met)
c.1477C>A (p.Leu493Met)
c.2380C>A (p.Leu794Met)
c.2485C>A (p.Leu829Met)
17g.44251240G>ACA500618321SLC4A1c.2574C>T (p.Ala858=)
c.1476C>T (p.Ala492=)
c.2379C>T (p.Ala793=)
c.2484C>T (p.Ala828=)
17g.44251240G>CCA500618323SLC4A1c.2574C>G (p.Ala858=)
c.1476C>G (p.Ala492=)
c.2379C>G (p.Ala793=)
c.2484C>G (p.Ala828=)
17g.44251240G>TCA500618322SLC4A1c.2574C>A (p.Ala858=)
c.1476C>A (p.Ala492=)
c.2379C>A (p.Ala793=)
c.2484C>A (p.Ala828=)
17g.44251241G>ACA399779790SLC4A1c.2573C>T (p.Ala858Val)
c.1475C>T (p.Ala492Val)
c.2378C>T (p.Ala793Val)
c.2483C>T (p.Ala828Val)
17g.44251241G>CCA399779793SLC4A1c.2573C>G (p.Ala858Gly)
c.1475C>G (p.Ala492Gly)
c.2378C>G (p.Ala793Gly)
c.2483C>G (p.Ala828Gly)
17g.44251241G=CA2261306728SLC4A1c.2573C= (p.Ala858=)
c.1475C= (p.Ala492=)
c.2378C= (p.Ala793=)
c.2483C= (p.Ala828=)
17g.44251241G>TCA127396SLC4A1c.2573C>A (p.Ala858Asp)
c.1475C>A (p.Ala492Asp)
c.2378C>A (p.Ala793Asp)
c.2483C>A (p.Ala828Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44251242C>ACA399779798SLC4A1c.2572G>T (p.Ala858Ser)
c.1474G>T (p.Ala492Ser)
c.2377G>T (p.Ala793Ser)
c.2482G>T (p.Ala828Ser)
17g.44251242C>GCA399779800SLC4A1c.2572G>C (p.Ala858Pro)
c.1474G>C (p.Ala492Pro)
c.2377G>C (p.Ala793Pro)
c.2482G>C (p.Ala828Pro)
17g.44251242C>TCA399779803SLC4A1c.2572G>A (p.Ala858Thr)
c.1474G>A (p.Ala492Thr)
c.2377G>A (p.Ala793Thr)
c.2482G>A (p.Ala828Thr)
17g.44251243C>ACA500618327SLC4A1c.2571G>T (p.Leu857=)
c.1473G>T (p.Leu491=)
c.2376G>T (p.Leu792=)
c.2481G>T (p.Leu827=)
17g.44251243C>GCA500618328SLC4A1c.2571G>C (p.Leu857=)
c.1473G>C (p.Leu491=)
c.2376G>C (p.Leu792=)
c.2481G>C (p.Leu827=)
17g.44251243C>TCA500618329SLC4A1c.2571G>A (p.Leu857=)
c.1473G>A (p.Leu491=)
c.2376G>A (p.Leu792=)
c.2481G>A (p.Leu827=)
17g.44251244delCA2733827958SLC4A1c.2570del (p.Leu857ArgfsTer?)
c.1472del (p.Leu491ArgfsTer?)
c.2375del (p.Leu792ArgfsTer?)
c.2480del (p.Leu827ArgfsTer?)
 dbSNP
17g.44251244A=CA2261306729SLC4A1c.2570T= (p.Leu857=)
c.1472T= (p.Leu491=)
c.2375T= (p.Leu792=)
c.2480T= (p.Leu827=)
17g.44251244A>CCA399779807SLC4A1c.2570T>G (p.Leu857Arg)
c.1472T>G (p.Leu491Arg)
c.2375T>G (p.Leu792Arg)
c.2480T>G (p.Leu827Arg)
17g.44251244A>GCA399779809SLC4A1c.2570T>C (p.Leu857Pro)
c.1472T>C (p.Leu491Pro)
c.2375T>C (p.Leu792Pro)
c.2480T>C (p.Leu827Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.44251244A>TCA399779812SLC4A1c.2570T>A (p.Leu857Gln)
c.1472T>A (p.Leu491Gln)
c.2375T>A (p.Leu792Gln)
c.2480T>A (p.Leu827Gln)
17g.44251245G>ACA500618330SLC4A1c.2569C>T (p.Leu857=)
c.1471C>T (p.Leu491=)
c.2374C>T (p.Leu792=)
c.2479C>T (p.Leu827=)
17g.44251245G>CCA399779814SLC4A1c.2569C>G (p.Leu857Val)
c.1471C>G (p.Leu491Val)
c.2374C>G (p.Leu792Val)
c.2479C>G (p.Leu827Val)
 gnomAD v4
17g.44251245G>TCA399779815SLC4A1c.2569C>A (p.Leu857Met)
c.1471C>A (p.Leu491Met)
c.2374C>A (p.Leu792Met)
c.2479C>A (p.Leu827Met)
17g.44251246G>ACA500618332SLC4A1c.2568C>T (p.Ser856=)
c.1470C>T (p.Ser490=)
c.2373C>T (p.Ser791=)
c.2478C>T (p.Ser826=)
17g.44251246G>CCA500618333SLC4A1c.2568C>G (p.Ser856=)
c.1470C>G (p.Ser490=)
c.2373C>G (p.Ser791=)
c.2478C>G (p.Ser826=)
17g.44251246G>TCA500618334SLC4A1c.2568C>A (p.Ser856=)
c.1470C>A (p.Ser490=)
c.2373C>A (p.Ser791=)
c.2478C>A (p.Ser826=)
17g.44251247G>ACA399779824SLC4A1c.2567C>T (p.Ser856Phe)
c.1469C>T (p.Ser490Phe)
c.2372C>T (p.Ser791Phe)
c.2477C>T (p.Ser826Phe)
 dbSNP gnomAD v2 COSMIC
17g.44251247G>CCA399779821SLC4A1c.2567C>G (p.Ser856Cys)
c.1469C>G (p.Ser490Cys)
c.2372C>G (p.Ser791Cys)
c.2477C>G (p.Ser826Cys)
17g.44251247G=CA2261306730SLC4A1c.2567C= (p.Ser856=)
c.1469C= (p.Ser490=)
c.2372C= (p.Ser791=)
c.2477C= (p.Ser826=)
17g.44251247G>TCA399779818SLC4A1c.2567C>A (p.Ser856Tyr)
c.1469C>A (p.Ser490Tyr)
c.2372C>A (p.Ser791Tyr)
c.2477C>A (p.Ser826Tyr)
17g.44251248A>CCA399779827SLC4A1c.2566T>G (p.Ser856Ala)
c.1468T>G (p.Ser490Ala)
c.2371T>G (p.Ser791Ala)
c.2476T>G (p.Ser826Ala)
17g.44251248A>GCA399779829SLC4A1c.2566T>C (p.Ser856Pro)
c.1468T>C (p.Ser490Pro)
c.2371T>C (p.Ser791Pro)
c.2476T>C (p.Ser826Pro)
17g.44251248A>TCA399779832SLC4A1c.2566T>A (p.Ser856Thr)
c.1468T>A (p.Ser490Thr)
c.2371T>A (p.Ser791Thr)
c.2476T>A (p.Ser826Thr)
17g.44251249G>ACA500618335SLC4A1c.2565C>T (p.Ala855=)
c.1467C>T (p.Ala489=)
c.2370C>T (p.Ala790=)
c.2475C>T (p.Ala825=)
17g.44251249G>CCA500618336SLC4A1c.2565C>G (p.Ala855=)
c.1467C>G (p.Ala489=)
c.2370C>G (p.Ala790=)
c.2475C>G (p.Ala825=)
17g.44251249G>TCA500618337SLC4A1c.2565C>A (p.Ala855=)
c.1467C>A (p.Ala489=)
c.2370C>A (p.Ala790=)
c.2475C>A (p.Ala825=)
17g.44251250G>ACA399779836SLC4A1c.2564C>T (p.Ala855Val)
c.1466C>T (p.Ala489Val)
c.2369C>T (p.Ala790Val)
c.2474C>T (p.Ala825Val)
 gnomAD v4 COSMIC
17g.44251250G>CCA399779838SLC4A1c.2564C>G (p.Ala855Gly)
c.1466C>G (p.Ala489Gly)
c.2369C>G (p.Ala790Gly)
c.2474C>G (p.Ala825Gly)
17g.44251250G>TCA399779840SLC4A1c.2564C>A (p.Ala855Asp)
c.1466C>A (p.Ala489Asp)
c.2369C>A (p.Ala790Asp)
c.2474C>A (p.Ala825Asp)
17g.44251251_44251253dupCA2576289087SLC4A1c.2562_2564dup (p.Ala855_Ser856insAla)
c.1464_1466dup (p.Ala489_Ser490insAla)
c.2367_2369dup (p.Ala790_Ser791insAla)
c.2472_2474dup (p.Ala825_Ser826insAla)
17g.44251251C>ACA399779844SLC4A1c.2563G>T (p.Ala855Ser)
c.1465G>T (p.Ala489Ser)
c.2368G>T (p.Ala790Ser)
c.2473G>T (p.Ala825Ser)
17g.44251251C>GCA399779847SLC4A1c.2563G>C (p.Ala855Pro)
c.1465G>C (p.Ala489Pro)
c.2368G>C (p.Ala790Pro)
c.2473G>C (p.Ala825Pro)
17g.44251251C>TCA399779848SLC4A1c.2563G>A (p.Ala855Thr)
c.1465G>A (p.Ala489Thr)
c.2368G>A (p.Ala790Thr)
c.2473G>A (p.Ala825Thr)
17g.44251252C>ACA500618340SLC4A1c.2562G>T (p.Pro854=)
c.1464G>T (p.Pro488=)
c.2367G>T (p.Pro789=)
c.2472G>T (p.Pro824=)
17g.44251252C=CA2261306731SLC4A1c.2562G= (p.Pro854=)
c.1464G= (p.Pro488=)
c.2367G= (p.Pro789=)
c.2472G= (p.Pro824=)
17g.44251252C>GCA500618341SLC4A1c.2562G>C (p.Pro854=)
c.1464G>C (p.Pro488=)
c.2367G>C (p.Pro789=)
c.2472G>C (p.Pro824=)
17g.44251252C>TCA8599997SLC4A1c.2562G>A (p.Pro854=)
c.1464G>A (p.Pro488=)
c.2367G>A (p.Pro789=)
c.2472G>A (p.Pro824=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44251253G>ACA127392SLC4A1c.2561C>T (p.Pro854Leu)
c.1463C>T (p.Pro488Leu)
c.2366C>T (p.Pro789Leu)
c.2471C>T (p.Pro824Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.44251253G>CCA399779857SLC4A1c.2561C>G (p.Pro854Arg)
c.1463C>G (p.Pro488Arg)
c.2366C>G (p.Pro789Arg)
c.2471C>G (p.Pro824Arg)
17g.44251253G=CA2261306732SLC4A1c.2561C= (p.Pro854=)
c.1463C= (p.Pro488=)
c.2366C= (p.Pro789=)
c.2471C= (p.Pro824=)
17g.44251253G>TCA8599998SLC4A1c.2561C>A (p.Pro854Gln)
c.1463C>A (p.Pro488Gln)
c.2366C>A (p.Pro789Gln)
c.2471C>A (p.Pro824Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44251254G>ACA399779867SLC4A1c.2560C>T (p.Pro854Ser)
c.1462C>T (p.Pro488Ser)
c.2365C>T (p.Pro789Ser)
c.2470C>T (p.Pro824Ser)
17g.44251254G>CCA399779864SLC4A1c.2560C>G (p.Pro854Ala)
c.1462C>G (p.Pro488Ala)
c.2365C>G (p.Pro789Ala)
c.2470C>G (p.Pro824Ala)
17g.44251254G>TCA399779863SLC4A1c.2560C>A (p.Pro854Thr)
c.1462C>A (p.Pro488Thr)
c.2365C>A (p.Pro789Thr)
c.2470C>A (p.Pro824Thr)
17g.44251255C>ACA500618343SLC4A1c.2559G>T (p.Thr853=)
c.1461G>T (p.Thr487=)
c.2364G>T (p.Thr788=)
c.2469G>T (p.Thr823=)
 dbSNP
17g.44251255C=CA2261306733SLC4A1c.2559G= (p.Thr853=)
c.1461G= (p.Thr487=)
c.2364G= (p.Thr788=)
c.2469G= (p.Thr823=)
17g.44251255C>GCA500618344SLC4A1c.2559G>C (p.Thr853=)
c.1461G>C (p.Thr487=)
c.2364G>C (p.Thr788=)
c.2469G>C (p.Thr823=)
17g.44251255C>TCA500618345SLC4A1c.2559G>A (p.Thr853=)
c.1461G>A (p.Thr487=)
c.2364G>A (p.Thr788=)
c.2469G>A (p.Thr823=)
 gnomAD v4
17g.44251256G>ACA399779869SLC4A1c.2558C>T (p.Thr853Met)
c.1460C>T (p.Thr487Met)
c.2363C>T (p.Thr788Met)
c.2468C>T (p.Thr823Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.44251256G>CCA399779870SLC4A1c.2558C>G (p.Thr853Arg)
c.1460C>G (p.Thr487Arg)
c.2363C>G (p.Thr788Arg)
c.2468C>G (p.Thr823Arg)
17g.44251256G=CA2261306734SLC4A1c.2558C= (p.Thr853=)
c.1460C= (p.Thr487=)
c.2363C= (p.Thr788=)
c.2468C= (p.Thr823=)
17g.44251256G>TCA399779872SLC4A1c.2558C>A (p.Thr853Lys)
c.1460C>A (p.Thr487Lys)
c.2363C>A (p.Thr788Lys)
c.2468C>A (p.Thr823Lys)
17g.44251257T>ACA399779874SLC4A1c.2557A>T (p.Thr853Ser)
c.1459A>T (p.Thr487Ser)
c.2362A>T (p.Thr788Ser)
c.2467A>T (p.Thr823Ser)
17g.44251257T>CCA399779876SLC4A1c.2557A>G (p.Thr853Ala)
c.1459A>G (p.Thr487Ala)
c.2362A>G (p.Thr788Ala)
c.2467A>G (p.Thr823Ala)
17g.44251257T>GCA399779878SLC4A1c.2557A>C (p.Thr853Pro)
c.1459A>C (p.Thr487Pro)
c.2362A>C (p.Thr788Pro)
c.2467A>C (p.Thr823Pro)
 gnomAD v4
17g.44251258G>ACA500618348SLC4A1c.2556C>T (p.Ser852=)
c.1458C>T (p.Ser486=)
c.2361C>T (p.Ser787=)
c.2466C>T (p.Ser822=)
17g.44251258G>CCA500618349SLC4A1c.2556C>G (p.Ser852=)
c.1458C>G (p.Ser486=)
c.2361C>G (p.Ser787=)
c.2466C>G (p.Ser822=)
17g.44251258G>TCA500618350SLC4A1c.2556C>A (p.Ser852=)
c.1458C>A (p.Ser486=)
c.2361C>A (p.Ser787=)
c.2466C>A (p.Ser822=)
17g.44251259G>ACA399779883SLC4A1c.2555C>T (p.Ser852Phe)
c.1457C>T (p.Ser486Phe)
c.2360C>T (p.Ser787Phe)
c.2465C>T (p.Ser822Phe)
 dbSNP
17g.44251259G>CCA399779879SLC4A1c.2555C>G (p.Ser852Cys)
c.1457C>G (p.Ser486Cys)
c.2360C>G (p.Ser787Cys)
c.2465C>G (p.Ser822Cys)
17g.44251259G=CA2261306735SLC4A1c.2555C= (p.Ser852=)
c.1457C= (p.Ser486=)
c.2360C= (p.Ser787=)
c.2465C= (p.Ser822=)
17g.44251259G>TCA399779881SLC4A1c.2555C>A (p.Ser852Tyr)
c.1457C>A (p.Ser486Tyr)
c.2360C>A (p.Ser787Tyr)
c.2465C>A (p.Ser822Tyr)
17g.44251260A>CCA399779885SLC4A1c.2554T>G (p.Ser852Ala)
c.1456T>G (p.Ser486Ala)
c.2359T>G (p.Ser787Ala)
c.2464T>G (p.Ser822Ala)
17g.44251260A>GCA399779886SLC4A1c.2554T>C (p.Ser852Pro)
c.1456T>C (p.Ser486Pro)
c.2359T>C (p.Ser787Pro)
c.2464T>C (p.Ser822Pro)
17g.44251260A>TCA399779889SLC4A1c.2554T>A (p.Ser852Thr)
c.1456T>A (p.Ser486Thr)
c.2359T>A (p.Ser787Thr)
c.2464T>A (p.Ser822Thr)
17g.44251261C>ACA399779891SLC4A1c.2553G>T (p.Lys851Asn)
c.1455G>T (p.Lys485Asn)
c.2358G>T (p.Lys786Asn)
c.2463G>T (p.Lys821Asn)
17g.44251261C>GCA399779892SLC4A1c.2553G>C (p.Lys851Asn)
c.1455G>C (p.Lys485Asn)
c.2358G>C (p.Lys786Asn)
c.2463G>C (p.Lys821Asn)
17g.44251261C>TCA500618351SLC4A1c.2553G>A (p.Lys851=)
c.1455G>A (p.Lys485=)
c.2358G>A (p.Lys786=)
c.2463G>A (p.Lys821=)
17g.44251262T>ACA399779896SLC4A1c.2552A>T (p.Lys851Met)
c.1454A>T (p.Lys485Met)
c.2357A>T (p.Lys786Met)
c.2462A>T (p.Lys821Met)
 gnomAD v4
17g.44251262T>CCA399779899SLC4A1c.2552A>G (p.Lys851Arg)
c.1454A>G (p.Lys485Arg)
c.2357A>G (p.Lys786Arg)
c.2462A>G (p.Lys821Arg)
17g.44251262T>GCA399779897SLC4A1c.2552A>C (p.Lys851Thr)
c.1454A>C (p.Lys485Thr)
c.2357A>C (p.Lys786Thr)
c.2462A>C (p.Lys821Thr)
17g.44251263T>ACA399779901SLC4A1c.2551A>T (p.Lys851Ter)
c.1453A>T (p.Lys485Ter)
c.2356A>T (p.Lys786Ter)
c.2461A>T (p.Lys821Ter)
17g.44251263T>CCA399779903SLC4A1c.2551A>G (p.Lys851Glu)
c.1453A>G (p.Lys485Glu)
c.2356A>G (p.Lys786Glu)
c.2461A>G (p.Lys821Glu)
17g.44251263T>GCA399779905SLC4A1c.2551A>C (p.Lys851Gln)
c.1453A>C (p.Lys485Gln)
c.2356A>C (p.Lys786Gln)
c.2461A>C (p.Lys821Gln)
17g.44251263_44251266delinsTCACCA2261306736SLC4A1c.2548_2551delinsGTGA (p.Val850=)
c.1450_1453delinsGTGA (p.Val484=)
c.2353_2356delinsGTGA (p.Val785=)
c.2458_2461delinsGTGA (p.Val820=)
17g.44251264C>ACA500618352SLC4A1c.2550G>T (p.Val850=)
c.1452G>T (p.Val484=)
c.2355G>T (p.Val785=)
c.2460G>T (p.Val820=)
17g.44251264C=CA2261306737SLC4A1c.2550G= (p.Val850=)
c.1452G= (p.Val484=)
c.2355G= (p.Val785=)
c.2460G= (p.Val820=)
17g.44251264C>GCA500618354SLC4A1c.2550G>C (p.Val850=)
c.1452G>C (p.Val484=)
c.2355G>C (p.Val785=)
c.2460G>C (p.Val820=)
17g.44251264C>TCA500618355SLC4A1c.2550G>A (p.Val850=)
c.1452G>A (p.Val484=)
c.2355G>A (p.Val785=)
c.2460G>A (p.Val820=)
 dbSNP gnomAD v2 gnomAD v4
17g.44251268_44251270delCA127397SLC4A1c.2548_2550del (p.Val850del)
c.1450_1452del (p.Val484del)
c.2353_2355del (p.Val785del)
c.2458_2460del (p.Val820del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.44251265A>CCA399779909SLC4A1c.2549T>G (p.Val850Gly)
c.1451T>G (p.Val484Gly)
c.2354T>G (p.Val785Gly)
c.2459T>G (p.Val820Gly)
 gnomAD v4
17g.44251265A>GCA399779910SLC4A1c.2549T>C (p.Val850Ala)
c.1451T>C (p.Val484Ala)
c.2354T>C (p.Val785Ala)
c.2459T>C (p.Val820Ala)
 COSMIC
17g.44251265A>TCA399779912SLC4A1c.2549T>A (p.Val850Glu)
c.1451T>A (p.Val484Glu)
c.2354T>A (p.Val785Glu)
c.2459T>A (p.Val820Glu)
17g.44251266C>ACA8599999SLC4A1c.2548G>T (p.Val850Leu)
c.1450G>T (p.Val484Leu)
c.2353G>T (p.Val785Leu)
c.2458G>T (p.Val820Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44251266C=CA2261306738SLC4A1c.2548G= (p.Val850=)
c.1450G= (p.Val484=)
c.2353G= (p.Val785=)
c.2458G= (p.Val820=)
17g.44251266C>GCA399779915SLC4A1c.2548G>C (p.Val850Leu)
c.1450G>C (p.Val484Leu)
c.2353G>C (p.Val785Leu)
c.2458G>C (p.Val820Leu)
17g.44251266C>TCA399779916SLC4A1c.2548G>A (p.Val850Met)
c.1450G>A (p.Val484Met)
c.2353G>A (p.Val785Met)
c.2458G>A (p.Val820Met)
 dbSNP gnomAD v3 gnomAD v4
17g.44251267delCA2580093845SLC4A1c.2548del (p.Val850Ter)
c.1450del (p.Val484Ter)
c.2353del (p.Val785Ter)
c.2458del (p.Val820Ter)
 ClinVar
17g.44251267C>ACA500618357SLC4A1c.2547G>T (p.Val849=)
c.1449G>T (p.Val483=)
c.2352G>T (p.Val784=)
c.2457G>T (p.Val819=)
17g.44251267C=CA2261306739SLC4A1c.2547G= (p.Val849=)
c.1449G= (p.Val483=)
c.2352G= (p.Val784=)
c.2457G= (p.Val819=)
17g.44251267C>GCA500618358SLC4A1c.2547G>C (p.Val849=)
c.1449G>C (p.Val483=)
c.2352G>C (p.Val784=)
c.2457G>C (p.Val819=)
17g.44251267C>TCA8600000SLC4A1c.2547G>A (p.Val849=)
c.1449G>A (p.Val483=)
c.2352G>A (p.Val784=)
c.2457G>A (p.Val819=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44251268A>CCA399779920SLC4A1c.2546T>G (p.Val849Gly)
c.1448T>G (p.Val483Gly)
c.2351T>G (p.Val784Gly)
c.2456T>G (p.Val819Gly)
17g.44251268A>GCA399779923SLC4A1c.2546T>C (p.Val849Ala)
c.1448T>C (p.Val483Ala)
c.2351T>C (p.Val784Ala)
c.2456T>C (p.Val819Ala)
17g.44251268A>TCA399779921SLC4A1c.2546T>A (p.Val849Glu)
c.1448T>A (p.Val483Glu)
c.2351T>A (p.Val784Glu)
c.2456T>A (p.Val819Glu)
17g.44251269C>ACA399779926SLC4A1c.2545G>T (p.Val849Leu)
c.1447G>T (p.Val483Leu)
c.2350G>T (p.Val784Leu)
c.2455G>T (p.Val819Leu)
17g.44251269C>GCA399779931SLC4A1c.2545G>C (p.Val849Leu)
c.1447G>C (p.Val483Leu)
c.2350G>C (p.Val784Leu)
c.2455G>C (p.Val819Leu)
17g.44251269C>TCA399779929SLC4A1c.2545G>A (p.Val849Met)
c.1447G>A (p.Val483Met)
c.2350G>A (p.Val784Met)
c.2455G>A (p.Val819Met)
17g.44251270C>ACA399779935SLC4A1c.2544G>T (p.Trp848Cys)
c.1446G>T (p.Trp482Cys)
c.2349G>T (p.Trp783Cys)
c.2454G>T (p.Trp818Cys)
 dbSNP
17g.44251270C=CA2261306740SLC4A1c.2544G= (p.Trp848=)
c.1446G= (p.Trp482=)
c.2349G= (p.Trp783=)
c.2454G= (p.Trp818=)
17g.44251270C>GCA399779938SLC4A1c.2544G>C (p.Trp848Cys)
c.1446G>C (p.Trp482Cys)
c.2349G>C (p.Trp783Cys)
c.2454G>C (p.Trp818Cys)
17g.44251270C>TCA399779940SLC4A1c.2544G>A (p.Trp848Ter)
c.1446G>A (p.Trp482Ter)
c.2349G>A (p.Trp783Ter)
c.2454G>A (p.Trp818Ter)
17g.44251271C>ACA399779943SLC4A1c.2543G>T (p.Trp848Leu)
c.1445G>T (p.Trp482Leu)
c.2348G>T (p.Trp783Leu)
c.2453G>T (p.Trp818Leu)
 gnomAD v4
17g.44251271C>GCA399779945SLC4A1c.2543G>C (p.Trp848Ser)
c.1445G>C (p.Trp482Ser)
c.2348G>C (p.Trp783Ser)
c.2453G>C (p.Trp818Ser)
17g.44251271C>TCA399779949SLC4A1c.2543G>A (p.Trp848Ter)
c.1445G>A (p.Trp482Ter)
c.2348G>A (p.Trp783Ter)
c.2453G>A (p.Trp818Ter)
17g.44251272A=CA2261306741SLC4A1c.2542T= (p.Trp848=)
c.1444T= (p.Trp482=)
c.2347T= (p.Trp783=)
c.2452T= (p.Trp818=)
17g.44251272A>CCA399779953SLC4A1c.2542T>G (p.Trp848Gly)
c.1444T>G (p.Trp482Gly)
c.2347T>G (p.Trp783Gly)
c.2452T>G (p.Trp818Gly)
17g.44251272A>GCA8600001SLC4A1c.2542T>C (p.Trp848Arg)
c.1444T>C (p.Trp482Arg)
c.2347T>C (p.Trp783Arg)
c.2452T>C (p.Trp818Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44251272A>TCA399779956SLC4A1c.2542T>A (p.Trp848Arg)
c.1444T>A (p.Trp482Arg)
c.2347T>A (p.Trp783Arg)
c.2452T>A (p.Trp818Arg)
17g.44251273C>ACA500618361SLC4A1c.2541G>T (p.Leu847=)
c.1443G>T (p.Leu481=)
c.2346G>T (p.Leu782=)
c.2451G>T (p.Leu817=)
17g.44251273C=CA2261306742SLC4A1c.2541G= (p.Leu847=)
c.1443G= (p.Leu481=)
c.2346G= (p.Leu782=)
c.2451G= (p.Leu817=)
17g.44251273C>GCA500618362SLC4A1c.2541G>C (p.Leu847=)
c.1443G>C (p.Leu481=)
c.2346G>C (p.Leu782=)
c.2451G>C (p.Leu817=)
17g.44251273C>TCA8600002SLC4A1c.2541G>A (p.Leu847=)
c.1443G>A (p.Leu481=)
c.2346G>A (p.Leu782=)
c.2451G>A (p.Leu817=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44251274A>CCA399779960SLC4A1c.2540T>G (p.Leu847Arg)
c.1442T>G (p.Leu481Arg)
c.2345T>G (p.Leu782Arg)
c.2450T>G (p.Leu817Arg)
17g.44251274A>GCA399779964SLC4A1c.2540T>C (p.Leu847Pro)
c.1442T>C (p.Leu481Pro)
c.2345T>C (p.Leu782Pro)
c.2450T>C (p.Leu817Pro)
 gnomAD v4
17g.44251274A>TCA399779967SLC4A1c.2540T>A (p.Leu847Gln)
c.1442T>A (p.Leu481Gln)
c.2345T>A (p.Leu782Gln)
c.2450T>A (p.Leu817Gln)
17g.44251275G>ACA500618364SLC4A1c.2539C>T (p.Leu847=)
c.1441C>T (p.Leu481=)
c.2344C>T (p.Leu782=)
c.2449C>T (p.Leu817=)
 gnomAD v4
17g.44251275G>CCA399779970SLC4A1c.2539C>G (p.Leu847Val)
c.1441C>G (p.Leu481Val)
c.2344C>G (p.Leu782Val)
c.2449C>G (p.Leu817Val)
17g.44251275G>TCA399779973SLC4A1c.2539C>A (p.Leu847Met)
c.1441C>A (p.Leu481Met)
c.2344C>A (p.Leu782Met)
c.2449C>A (p.Leu817Met)
17g.44251276C>ACA500618365SLC4A1c.2538G>T (p.Val846=)
c.1440G>T (p.Val480=)
c.2343G>T (p.Val781=)
c.2448G>T (p.Val816=)
 dbSNP
17g.44251276C=CA2261306743SLC4A1c.2538G= (p.Val846=)
c.1440G= (p.Val480=)
c.2343G= (p.Val781=)
c.2448G= (p.Val816=)
17g.44251276C>GCA500618366SLC4A1c.2538G>C (p.Val846=)
c.1440G>C (p.Val480=)
c.2343G>C (p.Val781=)
c.2448G>C (p.Val816=)
17g.44251276C>TCA500618367SLC4A1c.2538G>A (p.Val846=)
c.1440G>A (p.Val480=)
c.2343G>A (p.Val781=)
c.2448G>A (p.Val816=)
 gnomAD v4
17g.44251277A=CA2261306744SLC4A1c.2537T= (p.Val846=)
c.1439T= (p.Val480=)
c.2342T= (p.Val781=)
c.2447T= (p.Val816=)
17g.44251277A>CCA399779977SLC4A1c.2537T>G (p.Val846Gly)
c.1439T>G (p.Val480Gly)
c.2342T>G (p.Val781Gly)
c.2447T>G (p.Val816Gly)
17g.44251277A>GCA8600003SLC4A1c.2537T>C (p.Val846Ala)
c.1439T>C (p.Val480Ala)
c.2342T>C (p.Val781Ala)
c.2447T>C (p.Val816Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44251277A>TCA399779979SLC4A1c.2537T>A (p.Val846Glu)
c.1439T>A (p.Val480Glu)
c.2342T>A (p.Val781Glu)
c.2447T>A (p.Val816Glu)
17g.44251278C>ACA399779982SLC4A1c.2536G>T (p.Val846Leu)
c.1438G>T (p.Val480Leu)
c.2341G>T (p.Val781Leu)
c.2446G>T (p.Val816Leu)
 dbSNP
17g.44251278C=CA2261306745SLC4A1c.2536G= (p.Val846=)
c.1438G= (p.Val480=)
c.2341G= (p.Val781=)
c.2446G= (p.Val816=)
17g.44251278C>GCA399779984SLC4A1c.2536G>C (p.Val846Leu)
c.1438G>C (p.Val480Leu)
c.2341G>C (p.Val781Leu)
c.2446G>C (p.Val816Leu)
17g.44251278C>TCA399779985SLC4A1c.2536G>A (p.Val846Met)
c.1438G>A (p.Val480Met)
c.2341G>A (p.Val781Met)
c.2446G>A (p.Val816Met)
17g.44251279T>ACA8600004SLC4A1c.2535A>T (p.Ala845=)
c.1437A>T (p.Ala479=)
c.2340A>T (p.Ala780=)
c.2445A>T (p.Ala815=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44251279T>CCA500618368SLC4A1c.2535A>G (p.Ala845=)
c.1437A>G (p.Ala479=)
c.2340A>G (p.Ala780=)
c.2445A>G (p.Ala815=)
17g.44251279T>GCA500618370SLC4A1c.2535A>C (p.Ala845=)
c.1437A>C (p.Ala479=)
c.2340A>C (p.Ala780=)
c.2445A>C (p.Ala815=)
17g.44251279T=CA2261306746SLC4A1c.2535A= (p.Ala845=)
c.1437A= (p.Ala479=)
c.2340A= (p.Ala780=)
c.2445A= (p.Ala815=)
17g.44251280G>ACA399779989SLC4A1c.2534C>T (p.Ala845Val)
c.1436C>T (p.Ala479Val)
c.2339C>T (p.Ala780Val)
c.2444C>T (p.Ala815Val)
17g.44251280G>CCA399779993SLC4A1c.2534C>G (p.Ala845Gly)
c.1436C>G (p.Ala479Gly)
c.2339C>G (p.Ala780Gly)
c.2444C>G (p.Ala815Gly)
17g.44251280G>TCA399779996SLC4A1c.2534C>A (p.Ala845Glu)
c.1436C>A (p.Ala479Glu)
c.2339C>A (p.Ala780Glu)
c.2444C>A (p.Ala815Glu)
17g.44251281C>ACA399780005SLC4A1c.2533G>T (p.Ala845Ser)
c.1435G>T (p.Ala479Ser)
c.2338G>T (p.Ala780Ser)
c.2443G>T (p.Ala815Ser)
17g.44251281C>GCA399780002SLC4A1c.2533G>C (p.Ala845Pro)
c.1435G>C (p.Ala479Pro)
c.2338G>C (p.Ala780Pro)
c.2443G>C (p.Ala815Pro)
17g.44251281C>TCA399780000SLC4A1c.2533G>A (p.Ala845Thr)
c.1435G>A (p.Ala479Thr)
c.2338G>A (p.Ala780Thr)
c.2443G>A (p.Ala815Thr)
17g.44251282C>ACA500618371SLC4A1c.2532G>T (p.Leu844=)
c.1434G>T (p.Leu478=)
c.2337G>T (p.Leu779=)
c.2442G>T (p.Leu814=)
17g.44251282C>GCA500618373SLC4A1c.2532G>C (p.Leu844=)
c.1434G>C (p.Leu478=)
c.2337G>C (p.Leu779=)
c.2442G>C (p.Leu814=)
17g.44251282C>TCA500618372SLC4A1c.2532G>A (p.Leu844=)
c.1434G>A (p.Leu478=)
c.2337G>A (p.Leu779=)
c.2442G>A (p.Leu814=)
17g.44251283A>CCA399780008SLC4A1c.2531T>G (p.Leu844Arg)
c.1433T>G (p.Leu478Arg)
c.2336T>G (p.Leu779Arg)
c.2441T>G (p.Leu814Arg)
17g.44251283A>GCA399780010SLC4A1c.2531T>C (p.Leu844Pro)
c.1433T>C (p.Leu478Pro)
c.2336T>C (p.Leu779Pro)
c.2441T>C (p.Leu814Pro)
17g.44251283A>TCA399780013SLC4A1c.2531T>A (p.Leu844Gln)
c.1433T>A (p.Leu478Gln)
c.2336T>A (p.Leu779Gln)
c.2441T>A (p.Leu814Gln)
17g.44251284G>ACA500618376SLC4A1c.2530C>T (p.Leu844=)
c.1432C>T (p.Leu478=)
c.2335C>T (p.Leu779=)
c.2440C>T (p.Leu814=)
17g.44251284G>CCA399780016SLC4A1c.2530C>G (p.Leu844Val)
c.1432C>G (p.Leu478Val)
c.2335C>G (p.Leu779Val)
c.2440C>G (p.Leu814Val)
17g.44251284G=CA2261306747SLC4A1c.2530C= (p.Leu844=)
c.1432C= (p.Leu478=)
c.2335C= (p.Leu779=)
c.2440C= (p.Leu814=)
17g.44251284G>TCA399780019SLC4A1c.2530C>A (p.Leu844Met)
c.1432C>A (p.Leu478Met)
c.2335C>A (p.Leu779Met)
c.2440C>A (p.Leu814Met)
17g.44251285G>ACA290925115SLC4A1c.2529C>T (p.Cys843=)
c.1431C>T (p.Cys477=)
c.2334C>T (p.Cys778=)
c.2439C>T (p.Cys813=)
 dbSNP gnomAD v3 gnomAD v4
17g.44251285G>CCA399780022SLC4A1c.2529C>G (p.Cys843Trp)
c.1431C>G (p.Cys477Trp)
c.2334C>G (p.Cys778Trp)
c.2439C>G (p.Cys813Trp)
17g.44251285G=CA2261306748SLC4A1c.2529C= (p.Cys843=)
c.1431C= (p.Cys477=)
c.2334C= (p.Cys778=)
c.2439C= (p.Cys813=)
17g.44251285G>TCA399780025SLC4A1c.2529C>A (p.Cys843Ter)
c.1431C>A (p.Cys477Ter)
c.2334C>A (p.Cys778Ter)
c.2439C>A (p.Cys813Ter)
17g.44251286_44251288dupCA626223523SLC4A1c.2527_2529dup (p.Cys843_Leu844insCys)
c.1429_1431dup (p.Cys477_Leu478insCys)
c.2332_2334dup (p.Cys778_Leu779insCys)
c.2437_2439dup (p.Cys813_Leu814insCys)
 dbSNP gnomAD v2 gnomAD v4
17g.44251286C>ACA399780027SLC4A1c.2528G>T (p.Cys843Phe)
c.1430G>T (p.Cys477Phe)
c.2333G>T (p.Cys778Phe)
c.2438G>T (p.Cys813Phe)
17g.44251286C>GCA399780028SLC4A1c.2528G>C (p.Cys843Ser)
c.1430G>C (p.Cys477Ser)
c.2333G>C (p.Cys778Ser)
c.2438G>C (p.Cys813Ser)
17g.44251286C>TCA399780030SLC4A1c.2528G>A (p.Cys843Tyr)
c.1430G>A (p.Cys477Tyr)
c.2333G>A (p.Cys778Tyr)
c.2438G>A (p.Cys813Tyr)
17g.44251287A>CCA399780033SLC4A1c.2527T>G (p.Cys843Gly)
c.1429T>G (p.Cys477Gly)
c.2332T>G (p.Cys778Gly)
c.2437T>G (p.Cys813Gly)
17g.44251287A>GCA399780035SLC4A1c.2527T>C (p.Cys843Arg)
c.1429T>C (p.Cys477Arg)
c.2332T>C (p.Cys778Arg)
c.2437T>C (p.Cys813Arg)
17g.44251287A>TCA399780036SLC4A1c.2527T>A (p.Cys843Ser)
c.1429T>A (p.Cys477Ser)
c.2332T>A (p.Cys778Ser)
c.2437T>A (p.Cys813Ser)
17g.44251288G>ACA500618378SLC4A1c.2526C>T (p.Ile842=)
c.1428C>T (p.Ile476=)
c.2331C>T (p.Ile777=)
c.2436C>T (p.Ile812=)
17g.44251288G>CCA399780039SLC4A1c.2526C>G (p.Ile842Met)
c.1428C>G (p.Ile476Met)
c.2331C>G (p.Ile777Met)
c.2436C>G (p.Ile812Met)
17g.44251288G=CA2261306749SLC4A1c.2526C= (p.Ile842=)
c.1428C= (p.Ile476=)
c.2331C= (p.Ile777=)
c.2436C= (p.Ile812=)
17g.44251288G>TCA500618379SLC4A1c.2526C>A (p.Ile842=)
c.1428C>A (p.Ile476=)
c.2331C>A (p.Ile777=)
c.2436C>A (p.Ile812=)
 dbSNP gnomAD v4
17g.44251289A>CCA399780042SLC4A1c.2525T>G (p.Ile842Ser)
c.1427T>G (p.Ile476Ser)
c.2330T>G (p.Ile777Ser)
c.2435T>G (p.Ile812Ser)
17g.44251289A>GCA399780045SLC4A1c.2525T>C (p.Ile842Thr)
c.1427T>C (p.Ile476Thr)
c.2330T>C (p.Ile777Thr)
c.2435T>C (p.Ile812Thr)
 gnomAD v4
17g.44251289A>TCA399780047SLC4A1c.2525T>A (p.Ile842Asn)
c.1427T>A (p.Ile476Asn)
c.2330T>A (p.Ile777Asn)
c.2435T>A (p.Ile812Asn)
17g.44251290T>ACA399780051SLC4A1c.2524A>T (p.Ile842Phe)
c.1426A>T (p.Ile476Phe)
c.2329A>T (p.Ile777Phe)
c.2434A>T (p.Ile812Phe)
17g.44251290T>CCA399780053SLC4A1c.2524A>G (p.Ile842Val)
c.1426A>G (p.Ile476Val)
c.2329A>G (p.Ile777Val)
c.2434A>G (p.Ile812Val)
 gnomAD v4
17g.44251290T>GCA399780056SLC4A1c.2524A>C (p.Ile842Leu)
c.1426A>C (p.Ile476Leu)
c.2329A>C (p.Ile777Leu)
c.2434A>C (p.Ile812Leu)
 gnomAD v4
17g.44251291G>ACA500618380SLC4A1c.2523C>T (p.Ile841=)
c.1425C>T (p.Ile475=)
c.2328C>T (p.Ile776=)
c.2433C>T (p.Ile811=)
17g.44251291G>CCA399780058SLC4A1c.2523C>G (p.Ile841Met)
c.1425C>G (p.Ile475Met)
c.2328C>G (p.Ile776Met)
c.2433C>G (p.Ile811Met)
17g.44251291G>TCA500618381SLC4A1c.2523C>A (p.Ile841=)
c.1425C>A (p.Ile475=)
c.2328C>A (p.Ile776=)
c.2433C>A (p.Ile811=)
17g.44251292A>CCA399780060SLC4A1c.2522T>G (p.Ile841Ser)
c.1424T>G (p.Ile475Ser)
c.2327T>G (p.Ile776Ser)
c.2432T>G (p.Ile811Ser)
17g.44251292A>GCA399780063SLC4A1c.2522T>C (p.Ile841Thr)
c.1424T>C (p.Ile475Thr)
c.2327T>C (p.Ile776Thr)
c.2432T>C (p.Ile811Thr)
17g.44251292A>TCA399780065SLC4A1c.2522T>A (p.Ile841Asn)
c.1424T>A (p.Ile475Asn)
c.2327T>A (p.Ile776Asn)
c.2432T>A (p.Ile811Asn)
17g.44251293T>ACA399780067SLC4A1c.2521A>T (p.Ile841Phe)
c.1423A>T (p.Ile475Phe)
c.2326A>T (p.Ile776Phe)
c.2431A>T (p.Ile811Phe)
17g.44251293T>CCA399780068SLC4A1c.2521A>G (p.Ile841Val)
c.1423A>G (p.Ile475Val)
c.2326A>G (p.Ile776Val)
c.2431A>G (p.Ile811Val)
 gnomAD v4
17g.44251293T>GCA399780070SLC4A1c.2521A>C (p.Ile841Leu)
c.1423A>C (p.Ile475Leu)
c.2326A>C (p.Ile776Leu)
c.2431A>C (p.Ile811Leu)
17g.44251294C>ACA399780074SLC4A1c.2520G>T (p.Gln840His)
c.1422G>T (p.Gln474His)
c.2325G>T (p.Gln775His)
c.2430G>T (p.Gln810His)
17g.44251294C=CA2261306750SLC4A1c.2520G= (p.Gln840=)
c.1422G= (p.Gln474=)
c.2325G= (p.Gln775=)
c.2430G= (p.Gln810=)
17g.44251294C>GCA399780077SLC4A1c.2520G>C (p.Gln840His)
c.1422G>C (p.Gln474His)
c.2325G>C (p.Gln775His)
c.2430G>C (p.Gln810His)
 ClinVar dbSNP
17g.44251294C>TCA8600005SLC4A1c.2520G>A (p.Gln840=)
c.1422G>A (p.Gln474=)
c.2325G>A (p.Gln775=)
c.2430G>A (p.Gln810=)
 dbSNP ExAC gnomAD v4
17g.44251295T>ACA399780086SLC4A1c.2519A>T (p.Gln840Leu)
c.1421A>T (p.Gln474Leu)
c.2324A>T (p.Gln775Leu)
c.2429A>T (p.Gln810Leu)
17g.44251295T>CCA399780080SLC4A1c.2519A>G (p.Gln840Arg)
c.1421A>G (p.Gln474Arg)
c.2324A>G (p.Gln775Arg)
c.2429A>G (p.Gln810Arg)
 ClinVar
17g.44251295T>GCA399780083SLC4A1c.2519A>C (p.Gln840Pro)
c.1421A>C (p.Gln474Pro)
c.2324A>C (p.Gln775Pro)
c.2429A>C (p.Gln810Pro)
17g.44251296G>ACA399780090SLC4A1c.2518C>T (p.Gln840Ter)
c.1420C>T (p.Gln474Ter)
c.2323C>T (p.Gln775Ter)
c.2428C>T (p.Gln810Ter)
17g.44251296G>CCA399780092SLC4A1c.2518C>G (p.Gln840Glu)
c.1420C>G (p.Gln474Glu)
c.2323C>G (p.Gln775Glu)
c.2428C>G (p.Gln810Glu)
17g.44251296G>TCA399780095SLC4A1c.2518C>A (p.Gln840Lys)
c.1420C>A (p.Gln474Lys)
c.2323C>A (p.Gln775Lys)
c.2428C>A (p.Gln810Lys)
17g.44251297G>ACA500618387SLC4A1c.2517C>T (p.Ile839=)
c.1419C>T (p.Ile473=)
c.2322C>T (p.Ile774=)
c.2427C>T (p.Ile809=)
17g.44251297G>CCA399780098SLC4A1c.2517C>G (p.Ile839Met)
c.1419C>G (p.Ile473Met)
c.2322C>G (p.Ile774Met)
c.2427C>G (p.Ile809Met)
17g.44251297G>TCA500618389SLC4A1c.2517C>A (p.Ile839=)
c.1419C>A (p.Ile473=)
c.2322C>A (p.Ile774=)
c.2427C>A (p.Ile809=)
17g.44251298A>CCA399780102SLC4A1c.2516T>G (p.Ile839Ser)
c.1418T>G (p.Ile473Ser)
c.2321T>G (p.Ile774Ser)
c.2426T>G (p.Ile809Ser)
17g.44251298A>GCA399780104SLC4A1c.2516T>C (p.Ile839Thr)
c.1418T>C (p.Ile473Thr)
c.2321T>C (p.Ile774Thr)
c.2426T>C (p.Ile809Thr)
17g.44251298A>TCA399780106SLC4A1c.2516T>A (p.Ile839Asn)
c.1418T>A (p.Ile473Asn)
c.2321T>A (p.Ile774Asn)
c.2426T>A (p.Ile809Asn)
17g.44251299T>ACA399780110SLC4A1c.2515A>T (p.Ile839Phe)
c.1417A>T (p.Ile473Phe)
c.2320A>T (p.Ile774Phe)
c.2425A>T (p.Ile809Phe)
17g.44251299T>CCA399780112SLC4A1c.2515A>G (p.Ile839Val)
c.1417A>G (p.Ile473Val)
c.2320A>G (p.Ile774Val)
c.2425A>G (p.Ile809Val)
17g.44251299T>GCA399780113SLC4A1c.2515A>C (p.Ile839Leu)
c.1417A>C (p.Ile473Leu)
c.2320A>C (p.Ile774Leu)
c.2425A>C (p.Ile809Leu)
17g.44251300G>ACA500618390SLC4A1c.2514C>T (p.Gly838=)
c.1416C>T (p.Gly472=)
c.2319C>T (p.Gly773=)
c.2424C>T (p.Gly808=)
 gnomAD v4
17g.44251300G>CCA500618391SLC4A1c.2514C>G (p.Gly838=)
c.1416C>G (p.Gly472=)
c.2319C>G (p.Gly773=)
c.2424C>G (p.Gly808=)
17g.44251300G>TCA500618393SLC4A1c.2514C>A (p.Gly838=)
c.1416C>A (p.Gly472=)
c.2319C>A (p.Gly773=)
c.2424C>A (p.Gly808=)
17g.44251301C>ACA399780121SLC4A1c.2513G>T (p.Gly838Val)
c.1415G>T (p.Gly472Val)
c.2318G>T (p.Gly773Val)
c.2423G>T (p.Gly808Val)
17g.44251301C>GCA399780119SLC4A1c.2513G>C (p.Gly838Ala)
c.1415G>C (p.Gly472Ala)
c.2318G>C (p.Gly773Ala)
c.2423G>C (p.Gly808Ala)
17g.44251301C>TCA399780116SLC4A1c.2513G>A (p.Gly838Asp)
c.1415G>A (p.Gly472Asp)
c.2318G>A (p.Gly773Asp)
c.2423G>A (p.Gly808Asp)
 gnomAD v4
17g.44251302C>ACA399780124SLC4A1c.2512G>T (p.Gly838Cys)
c.1414G>T (p.Gly472Cys)
c.2317G>T (p.Gly773Cys)
c.2422G>T (p.Gly808Cys)
17g.44251302C=CA2261306751SLC4A1c.2512G= (p.Gly838=)
c.1414G= (p.Gly472=)
c.2317G= (p.Gly773=)
c.2422G= (p.Gly808=)
17g.44251302C>GCA399780127SLC4A1c.2512G>C (p.Gly838Arg)
c.1414G>C (p.Gly472Arg)
c.2317G>C (p.Gly773Arg)
c.2422G>C (p.Gly808Arg)
17g.44251302C>TCA290925118SLC4A1c.2512G>A (p.Gly838Ser)
c.1414G>A (p.Gly472Ser)
c.2317G>A (p.Gly773Ser)
c.2422G>A (p.Gly808Ser)
 dbSNP
17g.44251303C>ACA500618395SLC4A1c.2511G>T (p.Thr837=)
c.1413G>T (p.Thr471=)
c.2316G>T (p.Thr772=)
c.2421G>T (p.Thr807=)
17g.44251303C=CA2261306752SLC4A1c.2511G= (p.Thr837=)
c.1413G= (p.Thr471=)
c.2316G= (p.Thr772=)
c.2421G= (p.Thr807=)
17g.44251303C>GCA8600006SLC4A1c.2511G>C (p.Thr837=)
c.1413G>C (p.Thr471=)
c.2316G>C (p.Thr772=)
c.2421G>C (p.Thr807=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44251303C>TCA290925122SLC4A1c.2511G>A (p.Thr837=)
c.1413G>A (p.Thr471=)
c.2316G>A (p.Thr772=)
c.2421G>A (p.Thr807=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44251304G>ACA399780137SLC4A1c.2510C>T (p.Thr837Met)
c.1412C>T (p.Thr471Met)
c.2315C>T (p.Thr772Met)
c.2420C>T (p.Thr807Met)
 ClinVar dbSNP gnomAD v4
17g.44251304G>CCA399780139SLC4A1c.2510C>G (p.Thr837Arg)
c.1412C>G (p.Thr471Arg)
c.2315C>G (p.Thr772Arg)
c.2420C>G (p.Thr807Arg)
17g.44251304G=CA2261306753SLC4A1c.2510C= (p.Thr837=)
c.1412C= (p.Thr471=)
c.2315C= (p.Thr772=)
c.2420C= (p.Thr807=)
17g.44251304G>TCA399780141SLC4A1c.2510C>A (p.Thr837Lys)
c.1412C>A (p.Thr471Lys)
c.2315C>A (p.Thr772Lys)
c.2420C>A (p.Thr807Lys)
17g.44251305T>ACA399780144SLC4A1c.2509A>T (p.Thr837Ser)
c.1411A>T (p.Thr471Ser)
c.2314A>T (p.Thr772Ser)
c.2419A>T (p.Thr807Ser)
17g.44251305T>CCA127395SLC4A1c.2509A>G (p.Thr837Ala)
c.1411A>G (p.Thr471Ala)
c.2314A>G (p.Thr772Ala)
c.2419A>G (p.Thr807Ala)
 ClinVar dbSNP
17g.44251305T>GCA399780148SLC4A1c.2509A>C (p.Thr837Pro)
c.1411A>C (p.Thr471Pro)
c.2314A>C (p.Thr772Pro)
c.2419A>C (p.Thr807Pro)
17g.44251305T=CA2261306754SLC4A1c.2509A= (p.Thr837=)
c.1411A= (p.Thr471=)
c.2314A= (p.Thr772=)
c.2419A= (p.Thr807=)

Number of alleles fetched