Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.3228274_3228282dupCA634329253SLC4A11c.2542_2550dup (p.Ile850_Pro851insAlaMetIle)
c.2473_2481dup (p.Ile827_Pro828insAlaMetIle)
c.2341_2349dup (p.Ile783_Pro784insAlaMetIle)
c.2428_2436dup (p.Ile812_Pro813insAlaMetIle)
c.2590_2598dup (p.Ile866_Pro867insAlaMetIle)
c.2671_2679dup (p.Ile893_Pro894insAlaMetIle)
c.*690_*698dup (n.*690_*698dup)
c.2911_2919dup (p.Ile973_Pro974insAlaMetIle)
c.2485_2493dup (p.Ile831_Pro832insAlaMetIle)
c.2509_2517dup (p.Ile839_Pro840insAlaMetIle)
n.2640_2648dup
c.2905_2913dup (p.Ile971_Pro972insAlaMetIle)
n.3085_3093dup
n.3065_3073dup
c.2557_2565dup (p.Ile855_Pro856insAlaMetIle)
n.3050_3058dup
 dbSNP gnomAD v2 gnomAD v4
20g.3228273G>ACA509557612SLC4A11c.2544C>T (p.Ala848=)
c.2475C>T (p.Ala825=)
c.2343C>T (p.Ala781=)
c.2430C>T (p.Ala810=)
c.2592C>T (p.Ala864=)
c.2673C>T (p.Ala891=)
c.*692C>T (n.*692C>T)
c.2913C>T (p.Ala971=)
c.2487C>T (p.Ala829=)
c.2511C>T (p.Ala837=)
n.2642C>T
c.2907C>T (p.Ala969=)
n.3087C>T
n.3067C>T
c.2559C>T (p.Ala853=)
n.3052C>T
20g.3228273G>CCA509557613SLC4A11c.2544C>G (p.Ala848=)
c.2475C>G (p.Ala825=)
c.2343C>G (p.Ala781=)
c.2430C>G (p.Ala810=)
c.2592C>G (p.Ala864=)
c.2673C>G (p.Ala891=)
c.*692C>G (n.*692C>G)
c.2913C>G (p.Ala971=)
c.2487C>G (p.Ala829=)
c.2511C>G (p.Ala837=)
n.2642C>G
c.2907C>G (p.Ala969=)
n.3087C>G
n.3067C>G
c.2559C>G (p.Ala853=)
n.3052C>G
20g.3228273G>TCA509557614SLC4A11c.2544C>A (p.Ala848=)
c.2475C>A (p.Ala825=)
c.2343C>A (p.Ala781=)
c.2430C>A (p.Ala810=)
c.2592C>A (p.Ala864=)
c.2673C>A (p.Ala891=)
c.*692C>A (n.*692C>A)
c.2913C>A (p.Ala971=)
c.2487C>A (p.Ala829=)
c.2511C>A (p.Ala837=)
n.2642C>A
c.2907C>A (p.Ala969=)
n.3087C>A
n.3067C>A
c.2559C>A (p.Ala853=)
n.3052C>A
20g.3228274G>ACA408084627SLC4A11c.2543C>T (p.Ala848Val)
c.2474C>T (p.Ala825Val)
c.2342C>T (p.Ala781Val)
c.2429C>T (p.Ala810Val)
c.2591C>T (p.Ala864Val)
c.2672C>T (p.Ala891Val)
c.*691C>T (n.*691C>T)
c.2912C>T (p.Ala971Val)
c.2486C>T (p.Ala829Val)
c.2510C>T (p.Ala837Val)
n.2641C>T
c.2906C>T (p.Ala969Val)
n.3086C>T
n.3066C>T
c.2558C>T (p.Ala853Val)
n.3051C>T
 gnomAD v4
20g.3228274G>CCA408084629SLC4A11c.2543C>G (p.Ala848Gly)
c.2474C>G (p.Ala825Gly)
c.2342C>G (p.Ala781Gly)
c.2429C>G (p.Ala810Gly)
c.2591C>G (p.Ala864Gly)
c.2672C>G (p.Ala891Gly)
c.*691C>G (n.*691C>G)
c.2912C>G (p.Ala971Gly)
c.2486C>G (p.Ala829Gly)
c.2510C>G (p.Ala837Gly)
n.2641C>G
c.2906C>G (p.Ala969Gly)
n.3086C>G
n.3066C>G
c.2558C>G (p.Ala853Gly)
n.3051C>G
20g.3228274G>TCA408084631SLC4A11c.2543C>A (p.Ala848Asp)
c.2474C>A (p.Ala825Asp)
c.2342C>A (p.Ala781Asp)
c.2429C>A (p.Ala810Asp)
c.2591C>A (p.Ala864Asp)
c.2672C>A (p.Ala891Asp)
c.*691C>A (n.*691C>A)
c.2912C>A (p.Ala971Asp)
c.2486C>A (p.Ala829Asp)
c.2510C>A (p.Ala837Asp)
n.2641C>A
c.2906C>A (p.Ala969Asp)
n.3086C>A
n.3066C>A
c.2558C>A (p.Ala853Asp)
n.3051C>A
20g.3228275C>ACA408084637SLC4A11c.2542G>T (p.Ala848Ser)
c.2473G>T (p.Ala825Ser)
c.2341G>T (p.Ala781Ser)
c.2428G>T (p.Ala810Ser)
c.2590G>T (p.Ala864Ser)
c.2671G>T (p.Ala891Ser)
c.*690G>T (n.*690G>T)
c.2911G>T (p.Ala971Ser)
c.2485G>T (p.Ala829Ser)
c.2509G>T (p.Ala837Ser)
n.2640G>T
c.2905G>T (p.Ala969Ser)
n.3085G>T
n.3065G>T
c.2557G>T (p.Ala853Ser)
n.3050G>T
20g.3228275C=CA2346474914SLC4A11c.2542G= (p.Ala848=)
c.2473G= (p.Ala825=)
c.2341G= (p.Ala781=)
c.2428G= (p.Ala810=)
c.2590G= (p.Ala864=)
c.2671G= (p.Ala891=)
c.*690G= (n.*690G=)
c.2911G= (p.Ala971=)
c.2485G= (p.Ala829=)
c.2509G= (p.Ala837=)
n.2640G=
c.2905G= (p.Ala969=)
n.3085G=
n.3065G=
c.2557G= (p.Ala853=)
n.3050G=
20g.3228275C>GCA408084639SLC4A11c.2542G>C (p.Ala848Pro)
c.2473G>C (p.Ala825Pro)
c.2341G>C (p.Ala781Pro)
c.2428G>C (p.Ala810Pro)
c.2590G>C (p.Ala864Pro)
c.2671G>C (p.Ala891Pro)
c.*690G>C (n.*690G>C)
c.2911G>C (p.Ala971Pro)
c.2485G>C (p.Ala829Pro)
c.2509G>C (p.Ala837Pro)
n.2640G>C
c.2905G>C (p.Ala969Pro)
n.3085G>C
n.3065G>C
c.2557G>C (p.Ala853Pro)
n.3050G>C
20g.3228275C>TCA9741438SLC4A11c.2542G>A (p.Ala848Thr)
c.2473G>A (p.Ala825Thr)
c.2341G>A (p.Ala781Thr)
c.2428G>A (p.Ala810Thr)
c.2590G>A (p.Ala864Thr)
c.2671G>A (p.Ala891Thr)
c.*690G>A (n.*690G>A)
c.2911G>A (p.Ala971Thr)
c.2485G>A (p.Ala829Thr)
c.2509G>A (p.Ala837Thr)
n.2640G>A
c.2905G>A (p.Ala969Thr)
n.3085G>A
n.3065G>A
c.2557G>A (p.Ala853Thr)
n.3050G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228276delCA2651691198SLC4A11c.2541del (p.Ile847MetfsTer3)
c.2472del (p.Ile824MetfsTer3)
c.2340del (p.Ile780MetfsTer3)
c.2427del (p.Ile809MetfsTer3)
c.2589del (p.Ile863MetfsTer3)
c.2670del (p.Ile890MetfsTer3)
c.*689del (n.*689del)
c.2910del (p.Ile970MetfsTer3)
c.2484del (p.Ile828MetfsTer3)
c.2508del (p.Ile836MetfsTer3)
n.2639del
c.2904del (p.Ile968MetfsTer3)
n.3084del
n.3064del
c.2556del (p.Ile852MetfsTer3)
n.3049del
 gnomAD v4
20g.3228276G>ACA9741439SLC4A11c.2541C>T (p.Ile847=)
c.2472C>T (p.Ile824=)
c.2340C>T (p.Ile780=)
c.2427C>T (p.Ile809=)
c.2589C>T (p.Ile863=)
c.2670C>T (p.Ile890=)
c.*689C>T (n.*689C>T)
c.2910C>T (p.Ile970=)
c.2484C>T (p.Ile828=)
c.2508C>T (p.Ile836=)
n.2639C>T
c.2904C>T (p.Ile968=)
n.3084C>T
n.3064C>T
c.2556C>T (p.Ile852=)
n.3049C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228276G>CCA408084641SLC4A11c.2541C>G (p.Ile847Met)
c.2472C>G (p.Ile824Met)
c.2340C>G (p.Ile780Met)
c.2427C>G (p.Ile809Met)
c.2589C>G (p.Ile863Met)
c.2670C>G (p.Ile890Met)
c.*689C>G (n.*689C>G)
c.2910C>G (p.Ile970Met)
c.2484C>G (p.Ile828Met)
c.2508C>G (p.Ile836Met)
n.2639C>G
c.2904C>G (p.Ile968Met)
n.3084C>G
n.3064C>G
c.2556C>G (p.Ile852Met)
n.3049C>G
20g.3228276G=CA2346474915SLC4A11c.2541C= (p.Ile847=)
c.2472C= (p.Ile824=)
c.2340C= (p.Ile780=)
c.2427C= (p.Ile809=)
c.2589C= (p.Ile863=)
c.2670C= (p.Ile890=)
c.*689C= (n.*689C=)
c.2910C= (p.Ile970=)
c.2484C= (p.Ile828=)
c.2508C= (p.Ile836=)
n.2639C=
c.2904C= (p.Ile968=)
n.3084C=
n.3064C=
c.2556C= (p.Ile852=)
n.3049C=
20g.3228276G>TCA509557615SLC4A11c.2541C>A (p.Ile847=)
c.2472C>A (p.Ile824=)
c.2340C>A (p.Ile780=)
c.2427C>A (p.Ile809=)
c.2589C>A (p.Ile863=)
c.2670C>A (p.Ile890=)
c.*689C>A (n.*689C>A)
c.2910C>A (p.Ile970=)
c.2484C>A (p.Ile828=)
c.2508C>A (p.Ile836=)
n.2639C>A
c.2904C>A (p.Ile968=)
n.3084C>A
n.3064C>A
c.2556C>A (p.Ile852=)
n.3049C>A
 dbSNP
20g.3228277A=CA2346474916SLC4A11c.2540T= (p.Ile847=)
c.2471T= (p.Ile824=)
c.2339T= (p.Ile780=)
c.2426T= (p.Ile809=)
c.2588T= (p.Ile863=)
c.2669T= (p.Ile890=)
c.*688T= (n.*688T=)
c.2909T= (p.Ile970=)
c.2483T= (p.Ile828=)
c.2507T= (p.Ile836=)
n.2638T=
c.2903T= (p.Ile968=)
n.3083T=
n.3063T=
c.2555T= (p.Ile852=)
n.3048T=
20g.3228277A>CCA9741440SLC4A11c.2540T>G (p.Ile847Ser)
c.2471T>G (p.Ile824Ser)
c.2339T>G (p.Ile780Ser)
c.2426T>G (p.Ile809Ser)
c.2588T>G (p.Ile863Ser)
c.2669T>G (p.Ile890Ser)
c.*688T>G (n.*688T>G)
c.2909T>G (p.Ile970Ser)
c.2483T>G (p.Ile828Ser)
c.2507T>G (p.Ile836Ser)
n.2638T>G
c.2903T>G (p.Ile968Ser)
n.3083T>G
n.3063T>G
c.2555T>G (p.Ile852Ser)
n.3048T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228277A>GCA408084645SLC4A11c.2540T>C (p.Ile847Thr)
c.2471T>C (p.Ile824Thr)
c.2339T>C (p.Ile780Thr)
c.2426T>C (p.Ile809Thr)
c.2588T>C (p.Ile863Thr)
c.2669T>C (p.Ile890Thr)
c.*688T>C (n.*688T>C)
c.2909T>C (p.Ile970Thr)
c.2483T>C (p.Ile828Thr)
c.2507T>C (p.Ile836Thr)
n.2638T>C
c.2903T>C (p.Ile968Thr)
n.3083T>C
n.3063T>C
c.2555T>C (p.Ile852Thr)
n.3048T>C
20g.3228277A>TCA408084647SLC4A11c.2540T>A (p.Ile847Asn)
c.2471T>A (p.Ile824Asn)
c.2339T>A (p.Ile780Asn)
c.2426T>A (p.Ile809Asn)
c.2588T>A (p.Ile863Asn)
c.2669T>A (p.Ile890Asn)
c.*688T>A (n.*688T>A)
c.2909T>A (p.Ile970Asn)
c.2483T>A (p.Ile828Asn)
c.2507T>A (p.Ile836Asn)
n.2638T>A
c.2903T>A (p.Ile968Asn)
n.3083T>A
n.3063T>A
c.2555T>A (p.Ile852Asn)
n.3048T>A
20g.3228278delCA2697547269SLC4A11c.2539del (p.Ile847SerfsTer3)
c.2470del (p.Ile824SerfsTer3)
c.2338del (p.Ile780SerfsTer3)
c.2425del (p.Ile809SerfsTer3)
c.2587del (p.Ile863SerfsTer3)
c.2668del (p.Ile890SerfsTer3)
c.*687del (n.*687del)
c.2908del (p.Ile970SerfsTer3)
c.2482del (p.Ile828SerfsTer3)
c.2506del (p.Ile836SerfsTer3)
n.2637del
c.2902del (p.Ile968SerfsTer3)
n.3082del
n.3062del
c.2554del (p.Ile852SerfsTer3)
n.3047del
 ClinVar
20g.3228278T>ACA9741441SLC4A11c.2539A>T (p.Ile847Phe)
c.2470A>T (p.Ile824Phe)
c.2338A>T (p.Ile780Phe)
c.2425A>T (p.Ile809Phe)
c.2587A>T (p.Ile863Phe)
c.2668A>T (p.Ile890Phe)
c.*687A>T (n.*687A>T)
c.2908A>T (p.Ile970Phe)
c.2482A>T (p.Ile828Phe)
c.2506A>T (p.Ile836Phe)
n.2637A>T
c.2902A>T (p.Ile968Phe)
n.3082A>T
n.3062A>T
c.2554A>T (p.Ile852Phe)
n.3047A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228278T>CCA408084652SLC4A11c.2539A>G (p.Ile847Val)
c.2470A>G (p.Ile824Val)
c.2338A>G (p.Ile780Val)
c.2425A>G (p.Ile809Val)
c.2587A>G (p.Ile863Val)
c.2668A>G (p.Ile890Val)
c.*687A>G (n.*687A>G)
c.2908A>G (p.Ile970Val)
c.2482A>G (p.Ile828Val)
c.2506A>G (p.Ile836Val)
n.2637A>G
c.2902A>G (p.Ile968Val)
n.3082A>G
n.3062A>G
c.2554A>G (p.Ile852Val)
n.3047A>G
20g.3228278T>GCA408084655SLC4A11c.2539A>C (p.Ile847Leu)
c.2470A>C (p.Ile824Leu)
c.2338A>C (p.Ile780Leu)
c.2425A>C (p.Ile809Leu)
c.2587A>C (p.Ile863Leu)
c.2668A>C (p.Ile890Leu)
c.*687A>C (n.*687A>C)
c.2908A>C (p.Ile970Leu)
c.2482A>C (p.Ile828Leu)
c.2506A>C (p.Ile836Leu)
n.2637A>C
c.2902A>C (p.Ile968Leu)
n.3082A>C
n.3062A>C
c.2554A>C (p.Ile852Leu)
n.3047A>C
20g.3228278T=CA2346474917SLC4A11c.2539A= (p.Ile847=)
c.2470A= (p.Ile824=)
c.2338A= (p.Ile780=)
c.2425A= (p.Ile809=)
c.2587A= (p.Ile863=)
c.2668A= (p.Ile890=)
c.*687A= (n.*687A=)
c.2908A= (p.Ile970=)
c.2482A= (p.Ile828=)
c.2506A= (p.Ile836=)
n.2637A=
c.2902A= (p.Ile968=)
n.3082A=
n.3062A=
c.2554A= (p.Ile852=)
n.3047A=
20g.3228279C>ACA408084658SLC4A11c.2538G>T (p.Met846Ile)
c.2469G>T (p.Met823Ile)
c.2337G>T (p.Met779Ile)
c.2424G>T (p.Met808Ile)
c.2586G>T (p.Met862Ile)
c.2667G>T (p.Met889Ile)
c.*686G>T (n.*686G>T)
c.2907G>T (p.Met969Ile)
c.2481G>T (p.Met827Ile)
c.2505G>T (p.Met835Ile)
n.2636G>T
c.2901G>T (p.Met967Ile)
n.3081G>T
n.3061G>T
c.2553G>T (p.Met851Ile)
n.3046G>T
20g.3228279C>GCA408084660SLC4A11c.2538G>C (p.Met846Ile)
c.2469G>C (p.Met823Ile)
c.2337G>C (p.Met779Ile)
c.2424G>C (p.Met808Ile)
c.2586G>C (p.Met862Ile)
c.2667G>C (p.Met889Ile)
c.*686G>C (n.*686G>C)
c.2907G>C (p.Met969Ile)
c.2481G>C (p.Met827Ile)
c.2505G>C (p.Met835Ile)
n.2636G>C
c.2901G>C (p.Met967Ile)
n.3081G>C
n.3061G>C
c.2553G>C (p.Met851Ile)
n.3046G>C
20g.3228279C>TCA408084661SLC4A11c.2538G>A (p.Met846Ile)
c.2469G>A (p.Met823Ile)
c.2337G>A (p.Met779Ile)
c.2424G>A (p.Met808Ile)
c.2586G>A (p.Met862Ile)
c.2667G>A (p.Met889Ile)
c.*686G>A (n.*686G>A)
c.2907G>A (p.Met969Ile)
c.2481G>A (p.Met827Ile)
c.2505G>A (p.Met835Ile)
n.2636G>A
c.2901G>A (p.Met967Ile)
n.3081G>A
n.3061G>A
c.2553G>A (p.Met851Ile)
n.3046G>A
20g.3228280A>CCA408084664SLC4A11c.2537T>G (p.Met846Arg)
c.2468T>G (p.Met823Arg)
c.2336T>G (p.Met779Arg)
c.2423T>G (p.Met808Arg)
c.2585T>G (p.Met862Arg)
c.2666T>G (p.Met889Arg)
c.*685T>G (n.*685T>G)
c.2906T>G (p.Met969Arg)
c.2480T>G (p.Met827Arg)
c.2504T>G (p.Met835Arg)
n.2635T>G
c.2900T>G (p.Met967Arg)
n.3080T>G
n.3060T>G
c.2552T>G (p.Met851Arg)
n.3045T>G
20g.3228280A>GCA408084666SLC4A11c.2537T>C (p.Met846Thr)
c.2468T>C (p.Met823Thr)
c.2336T>C (p.Met779Thr)
c.2423T>C (p.Met808Thr)
c.2585T>C (p.Met862Thr)
c.2666T>C (p.Met889Thr)
c.*685T>C (n.*685T>C)
c.2906T>C (p.Met969Thr)
c.2480T>C (p.Met827Thr)
c.2504T>C (p.Met835Thr)
n.2635T>C
c.2900T>C (p.Met967Thr)
n.3080T>C
n.3060T>C
c.2552T>C (p.Met851Thr)
n.3045T>C
20g.3228280A>TCA408084665SLC4A11c.2537T>A (p.Met846Lys)
c.2468T>A (p.Met823Lys)
c.2336T>A (p.Met779Lys)
c.2423T>A (p.Met808Lys)
c.2585T>A (p.Met862Lys)
c.2666T>A (p.Met889Lys)
c.*685T>A (n.*685T>A)
c.2906T>A (p.Met969Lys)
c.2480T>A (p.Met827Lys)
c.2504T>A (p.Met835Lys)
n.2635T>A
c.2900T>A (p.Met967Lys)
n.3080T>A
n.3060T>A
c.2552T>A (p.Met851Lys)
n.3045T>A
20g.3228281T>ACA408084667SLC4A11c.2536A>T (p.Met846Leu)
c.2467A>T (p.Met823Leu)
c.2335A>T (p.Met779Leu)
c.2422A>T (p.Met808Leu)
c.2584A>T (p.Met862Leu)
c.2665A>T (p.Met889Leu)
c.*684A>T (n.*684A>T)
c.2905A>T (p.Met969Leu)
c.2479A>T (p.Met827Leu)
c.2503A>T (p.Met835Leu)
n.2634A>T
c.2899A>T (p.Met967Leu)
n.3079A>T
n.3059A>T
c.2551A>T (p.Met851Leu)
n.3044A>T
20g.3228281T>CCA408084669SLC4A11c.2536A>G (p.Met846Val)
c.2467A>G (p.Met823Val)
c.2335A>G (p.Met779Val)
c.2422A>G (p.Met808Val)
c.2584A>G (p.Met862Val)
c.2665A>G (p.Met889Val)
c.*684A>G (n.*684A>G)
c.2905A>G (p.Met969Val)
c.2479A>G (p.Met827Val)
c.2503A>G (p.Met835Val)
n.2634A>G
c.2899A>G (p.Met967Val)
n.3079A>G
n.3059A>G
c.2551A>G (p.Met851Val)
n.3044A>G
20g.3228281T>GCA408084671SLC4A11c.2536A>C (p.Met846Leu)
c.2467A>C (p.Met823Leu)
c.2335A>C (p.Met779Leu)
c.2422A>C (p.Met808Leu)
c.2584A>C (p.Met862Leu)
c.2665A>C (p.Met889Leu)
c.*684A>C (n.*684A>C)
c.2905A>C (p.Met969Leu)
c.2479A>C (p.Met827Leu)
c.2503A>C (p.Met835Leu)
n.2634A>C
c.2899A>C (p.Met967Leu)
n.3079A>C
n.3059A>C
c.2551A>C (p.Met851Leu)
n.3044A>C
 gnomAD v4
20g.3228282G>ACA509557616SLC4A11c.2535C>T (p.Ile845=)
c.2466C>T (p.Ile822=)
c.2334C>T (p.Ile778=)
c.2421C>T (p.Ile807=)
c.2583C>T (p.Ile861=)
c.2664C>T (p.Ile888=)
c.*683C>T (n.*683C>T)
c.2904C>T (p.Ile968=)
c.2478C>T (p.Ile826=)
c.2502C>T (p.Ile834=)
n.2633C>T
c.2898C>T (p.Ile966=)
n.3078C>T
n.3058C>T
c.2550C>T (p.Ile850=)
n.3043C>T
 ClinVar dbSNP gnomAD v4
20g.3228282G>CCA408084673SLC4A11c.2535C>G (p.Ile845Met)
c.2466C>G (p.Ile822Met)
c.2334C>G (p.Ile778Met)
c.2421C>G (p.Ile807Met)
c.2583C>G (p.Ile861Met)
c.2664C>G (p.Ile888Met)
c.*683C>G (n.*683C>G)
c.2904C>G (p.Ile968Met)
c.2478C>G (p.Ile826Met)
c.2502C>G (p.Ile834Met)
n.2633C>G
c.2898C>G (p.Ile966Met)
n.3078C>G
n.3058C>G
c.2550C>G (p.Ile850Met)
n.3043C>G
20g.3228282G=CA2346474918SLC4A11c.2535C= (p.Ile845=)
c.2466C= (p.Ile822=)
c.2334C= (p.Ile778=)
c.2421C= (p.Ile807=)
c.2583C= (p.Ile861=)
c.2664C= (p.Ile888=)
c.*683C= (n.*683C=)
c.2904C= (p.Ile968=)
c.2478C= (p.Ile826=)
c.2502C= (p.Ile834=)
n.2633C=
c.2898C= (p.Ile966=)
n.3078C=
n.3058C=
c.2550C= (p.Ile850=)
n.3043C=
20g.3228282G>TCA509557617SLC4A11c.2535C>A (p.Ile845=)
c.2466C>A (p.Ile822=)
c.2334C>A (p.Ile778=)
c.2421C>A (p.Ile807=)
c.2583C>A (p.Ile861=)
c.2664C>A (p.Ile888=)
c.*683C>A (n.*683C>A)
c.2904C>A (p.Ile968=)
c.2478C>A (p.Ile826=)
c.2502C>A (p.Ile834=)
n.2633C>A
c.2898C>A (p.Ile966=)
n.3078C>A
n.3058C>A
c.2550C>A (p.Ile850=)
n.3043C>A
 dbSNP gnomAD v2 gnomAD v4
20g.3228283A>CCA408084677SLC4A11c.2534T>G (p.Ile845Ser)
c.2465T>G (p.Ile822Ser)
c.2333T>G (p.Ile778Ser)
c.2420T>G (p.Ile807Ser)
c.2582T>G (p.Ile861Ser)
c.2663T>G (p.Ile888Ser)
c.*682T>G (n.*682T>G)
c.2903T>G (p.Ile968Ser)
c.2477T>G (p.Ile826Ser)
c.2501T>G (p.Ile834Ser)
n.2632T>G
c.2897T>G (p.Ile966Ser)
n.3077T>G
n.3057T>G
c.2549T>G (p.Ile850Ser)
n.3042T>G
20g.3228283A>GCA408084681SLC4A11c.2534T>C (p.Ile845Thr)
c.2465T>C (p.Ile822Thr)
c.2333T>C (p.Ile778Thr)
c.2420T>C (p.Ile807Thr)
c.2582T>C (p.Ile861Thr)
c.2663T>C (p.Ile888Thr)
c.*682T>C (n.*682T>C)
c.2903T>C (p.Ile968Thr)
c.2477T>C (p.Ile826Thr)
c.2501T>C (p.Ile834Thr)
n.2632T>C
c.2897T>C (p.Ile966Thr)
n.3077T>C
n.3057T>C
c.2549T>C (p.Ile850Thr)
n.3042T>C
20g.3228283A>TCA408084679SLC4A11c.2534T>A (p.Ile845Asn)
c.2465T>A (p.Ile822Asn)
c.2333T>A (p.Ile778Asn)
c.2420T>A (p.Ile807Asn)
c.2582T>A (p.Ile861Asn)
c.2663T>A (p.Ile888Asn)
c.*682T>A (n.*682T>A)
c.2903T>A (p.Ile968Asn)
c.2477T>A (p.Ile826Asn)
c.2501T>A (p.Ile834Asn)
n.2632T>A
c.2897T>A (p.Ile966Asn)
n.3077T>A
n.3057T>A
c.2549T>A (p.Ile850Asn)
n.3042T>A
 gnomAD v4
20g.3228284T>ACA408084683SLC4A11c.2533A>T (p.Ile845Phe)
c.2464A>T (p.Ile822Phe)
c.2332A>T (p.Ile778Phe)
c.2419A>T (p.Ile807Phe)
c.2581A>T (p.Ile861Phe)
c.2662A>T (p.Ile888Phe)
c.*681A>T (n.*681A>T)
c.2902A>T (p.Ile968Phe)
c.2476A>T (p.Ile826Phe)
c.2500A>T (p.Ile834Phe)
n.2631A>T
c.2896A>T (p.Ile966Phe)
n.3076A>T
n.3056A>T
c.2548A>T (p.Ile850Phe)
n.3041A>T
20g.3228284T>CCA408084686SLC4A11c.2533A>G (p.Ile845Val)
c.2464A>G (p.Ile822Val)
c.2332A>G (p.Ile778Val)
c.2419A>G (p.Ile807Val)
c.2581A>G (p.Ile861Val)
c.2662A>G (p.Ile888Val)
c.*681A>G (n.*681A>G)
c.2902A>G (p.Ile968Val)
c.2476A>G (p.Ile826Val)
c.2500A>G (p.Ile834Val)
n.2631A>G
c.2896A>G (p.Ile966Val)
n.3076A>G
n.3056A>G
c.2548A>G (p.Ile850Val)
n.3041A>G
 dbSNP gnomAD v2 gnomAD v4
20g.3228284T>GCA408084688SLC4A11c.2533A>C (p.Ile845Leu)
c.2464A>C (p.Ile822Leu)
c.2332A>C (p.Ile778Leu)
c.2419A>C (p.Ile807Leu)
c.2581A>C (p.Ile861Leu)
c.2662A>C (p.Ile888Leu)
c.*681A>C (n.*681A>C)
c.2902A>C (p.Ile968Leu)
c.2476A>C (p.Ile826Leu)
c.2500A>C (p.Ile834Leu)
n.2631A>C
c.2896A>C (p.Ile966Leu)
n.3076A>C
n.3056A>C
c.2548A>C (p.Ile850Leu)
n.3041A>C
20g.3228284T=CA2346474919SLC4A11c.2533A= (p.Ile845=)
c.2464A= (p.Ile822=)
c.2332A= (p.Ile778=)
c.2419A= (p.Ile807=)
c.2581A= (p.Ile861=)
c.2662A= (p.Ile888=)
c.*681A= (n.*681A=)
c.2902A= (p.Ile968=)
c.2476A= (p.Ile826=)
c.2500A= (p.Ile834=)
n.2631A=
c.2896A= (p.Ile966=)
n.3076A=
n.3056A=
c.2548A= (p.Ile850=)
n.3041A=
20g.3228285G>ACA509557618SLC4A11c.2532C>T (p.Leu844=)
c.2463C>T (p.Leu821=)
c.2331C>T (p.Leu777=)
c.2418C>T (p.Leu806=)
c.2580C>T (p.Leu860=)
c.2661C>T (p.Leu887=)
c.*680C>T (n.*680C>T)
c.2901C>T (p.Leu967=)
c.2475C>T (p.Leu825=)
c.2499C>T (p.Leu833=)
n.2630C>T
c.2895C>T (p.Leu965=)
n.3075C>T
n.3055C>T
c.2547C>T (p.Leu849=)
n.3040C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.3228285G>CCA509557619SLC4A11c.2532C>G (p.Leu844=)
c.2463C>G (p.Leu821=)
c.2331C>G (p.Leu777=)
c.2418C>G (p.Leu806=)
c.2580C>G (p.Leu860=)
c.2661C>G (p.Leu887=)
c.*680C>G (n.*680C>G)
c.2901C>G (p.Leu967=)
c.2475C>G (p.Leu825=)
c.2499C>G (p.Leu833=)
n.2630C>G
c.2895C>G (p.Leu965=)
n.3075C>G
n.3055C>G
c.2547C>G (p.Leu849=)
n.3040C>G
20g.3228285G=CA2346474920SLC4A11c.2532C= (p.Leu844=)
c.2463C= (p.Leu821=)
c.2331C= (p.Leu777=)
c.2418C= (p.Leu806=)
c.2580C= (p.Leu860=)
c.2661C= (p.Leu887=)
c.*680C= (n.*680C=)
c.2901C= (p.Leu967=)
c.2475C= (p.Leu825=)
c.2499C= (p.Leu833=)
n.2630C=
c.2895C= (p.Leu965=)
n.3075C=
n.3055C=
c.2547C= (p.Leu849=)
n.3040C=
20g.3228285G>TCA509557620SLC4A11c.2532C>A (p.Leu844=)
c.2463C>A (p.Leu821=)
c.2331C>A (p.Leu777=)
c.2418C>A (p.Leu806=)
c.2580C>A (p.Leu860=)
c.2661C>A (p.Leu887=)
c.*680C>A (n.*680C>A)
c.2901C>A (p.Leu967=)
c.2475C>A (p.Leu825=)
c.2499C>A (p.Leu833=)
n.2630C>A
c.2895C>A (p.Leu965=)
n.3075C>A
n.3055C>A
c.2547C>A (p.Leu849=)
n.3040C>A
20g.3228286A>CCA408084691SLC4A11c.2531T>G (p.Leu844Arg)
c.2462T>G (p.Leu821Arg)
c.2330T>G (p.Leu777Arg)
c.2417T>G (p.Leu806Arg)
c.2579T>G (p.Leu860Arg)
c.2660T>G (p.Leu887Arg)
c.*679T>G (n.*679T>G)
c.2900T>G (p.Leu967Arg)
c.2474T>G (p.Leu825Arg)
c.2498T>G (p.Leu833Arg)
n.2629T>G
c.2894T>G (p.Leu965Arg)
n.3074T>G
n.3054T>G
c.2546T>G (p.Leu849Arg)
n.3039T>G
20g.3228286A>GCA408084693SLC4A11c.2531T>C (p.Leu844Pro)
c.2462T>C (p.Leu821Pro)
c.2330T>C (p.Leu777Pro)
c.2417T>C (p.Leu806Pro)
c.2579T>C (p.Leu860Pro)
c.2660T>C (p.Leu887Pro)
c.*679T>C (n.*679T>C)
c.2900T>C (p.Leu967Pro)
c.2474T>C (p.Leu825Pro)
c.2498T>C (p.Leu833Pro)
n.2629T>C
c.2894T>C (p.Leu965Pro)
n.3074T>C
n.3054T>C
c.2546T>C (p.Leu849Pro)
n.3039T>C
20g.3228286A>TCA408084695SLC4A11c.2531T>A (p.Leu844His)
c.2462T>A (p.Leu821His)
c.2330T>A (p.Leu777His)
c.2417T>A (p.Leu806His)
c.2579T>A (p.Leu860His)
c.2660T>A (p.Leu887His)
c.*679T>A (n.*679T>A)
c.2900T>A (p.Leu967His)
c.2474T>A (p.Leu825His)
c.2498T>A (p.Leu833His)
n.2629T>A
c.2894T>A (p.Leu965His)
n.3074T>A
n.3054T>A
c.2546T>A (p.Leu849His)
n.3039T>A
20g.3228287G>ACA310984726SLC4A11c.2530C>T (p.Leu844Phe)
c.2461C>T (p.Leu821Phe)
c.2329C>T (p.Leu777Phe)
c.2416C>T (p.Leu806Phe)
c.2578C>T (p.Leu860Phe)
c.2659C>T (p.Leu887Phe)
c.*678C>T (n.*678C>T)
c.2899C>T (p.Leu967Phe)
c.2473C>T (p.Leu825Phe)
c.2497C>T (p.Leu833Phe)
n.2628C>T
c.2893C>T (p.Leu965Phe)
n.3073C>T
n.3053C>T
c.2545C>T (p.Leu849Phe)
n.3038C>T
 dbSNP gnomAD v4
20g.3228287G>CCA408084699SLC4A11c.2530C>G (p.Leu844Val)
c.2461C>G (p.Leu821Val)
c.2329C>G (p.Leu777Val)
c.2416C>G (p.Leu806Val)
c.2578C>G (p.Leu860Val)
c.2659C>G (p.Leu887Val)
c.*678C>G (n.*678C>G)
c.2899C>G (p.Leu967Val)
c.2473C>G (p.Leu825Val)
c.2497C>G (p.Leu833Val)
n.2628C>G
c.2893C>G (p.Leu965Val)
n.3073C>G
n.3053C>G
c.2545C>G (p.Leu849Val)
n.3038C>G
20g.3228287G=CA2346474921SLC4A11c.2530C= (p.Leu844=)
c.2461C= (p.Leu821=)
c.2329C= (p.Leu777=)
c.2416C= (p.Leu806=)
c.2578C= (p.Leu860=)
c.2659C= (p.Leu887=)
c.*678C= (n.*678C=)
c.2899C= (p.Leu967=)
c.2473C= (p.Leu825=)
c.2497C= (p.Leu833=)
n.2628C=
c.2893C= (p.Leu965=)
n.3073C=
n.3053C=
c.2545C= (p.Leu849=)
n.3038C=
20g.3228287G>TCA408084701SLC4A11c.2530C>A (p.Leu844Ile)
c.2461C>A (p.Leu821Ile)
c.2329C>A (p.Leu777Ile)
c.2416C>A (p.Leu806Ile)
c.2578C>A (p.Leu860Ile)
c.2659C>A (p.Leu887Ile)
c.*678C>A (n.*678C>A)
c.2899C>A (p.Leu967Ile)
c.2473C>A (p.Leu825Ile)
c.2497C>A (p.Leu833Ile)
n.2628C>A
c.2893C>A (p.Leu965Ile)
n.3073C>A
n.3053C>A
c.2545C>A (p.Leu849Ile)
n.3038C>A
20g.3228288G>ACA509557621SLC4A11c.2529C>T (p.Pro843=)
c.2460C>T (p.Pro820=)
c.2328C>T (p.Pro776=)
c.2415C>T (p.Pro805=)
c.2577C>T (p.Pro859=)
c.2658C>T (p.Pro886=)
c.*677C>T (n.*677C>T)
c.2898C>T (p.Pro966=)
c.2472C>T (p.Pro824=)
c.2496C>T (p.Pro832=)
n.2627C>T
c.2892C>T (p.Pro964=)
n.3072C>T
n.3052C>T
c.2544C>T (p.Pro848=)
n.3037C>T
 ClinVar dbSNP gnomAD v4
20g.3228288G>CCA509557622SLC4A11c.2529C>G (p.Pro843=)
c.2460C>G (p.Pro820=)
c.2328C>G (p.Pro776=)
c.2415C>G (p.Pro805=)
c.2577C>G (p.Pro859=)
c.2658C>G (p.Pro886=)
c.*677C>G (n.*677C>G)
c.2898C>G (p.Pro966=)
c.2472C>G (p.Pro824=)
c.2496C>G (p.Pro832=)
n.2627C>G
c.2892C>G (p.Pro964=)
n.3072C>G
n.3052C>G
c.2544C>G (p.Pro848=)
n.3037C>G
20g.3228288G=CA2346474922SLC4A11c.2529C= (p.Pro843=)
c.2460C= (p.Pro820=)
c.2328C= (p.Pro776=)
c.2415C= (p.Pro805=)
c.2577C= (p.Pro859=)
c.2658C= (p.Pro886=)
c.*677C= (n.*677C=)
c.2898C= (p.Pro966=)
c.2472C= (p.Pro824=)
c.2496C= (p.Pro832=)
n.2627C=
c.2892C= (p.Pro964=)
n.3072C=
n.3052C=
c.2544C= (p.Pro848=)
n.3037C=
20g.3228288G>TCA509557623SLC4A11c.2529C>A (p.Pro843=)
c.2460C>A (p.Pro820=)
c.2328C>A (p.Pro776=)
c.2415C>A (p.Pro805=)
c.2577C>A (p.Pro859=)
c.2658C>A (p.Pro886=)
c.*677C>A (n.*677C>A)
c.2898C>A (p.Pro966=)
c.2472C>A (p.Pro824=)
c.2496C>A (p.Pro832=)
n.2627C>A
c.2892C>A (p.Pro964=)
n.3072C>A
n.3052C>A
c.2544C>A (p.Pro848=)
n.3037C>A
 dbSNP
20g.3228289G>ACA408084704SLC4A11c.2528C>T (p.Pro843Leu)
c.2459C>T (p.Pro820Leu)
c.2327C>T (p.Pro776Leu)
c.2414C>T (p.Pro805Leu)
c.2576C>T (p.Pro859Leu)
c.2657C>T (p.Pro886Leu)
c.*676C>T (n.*676C>T)
c.2897C>T (p.Pro966Leu)
c.2471C>T (p.Pro824Leu)
c.2495C>T (p.Pro832Leu)
n.2626C>T
c.2891C>T (p.Pro964Leu)
n.3071C>T
n.3051C>T
c.2543C>T (p.Pro848Leu)
n.3036C>T
 gnomAD v4 COSMIC COSMIC
20g.3228289G>CCA408084705SLC4A11c.2528C>G (p.Pro843Arg)
c.2459C>G (p.Pro820Arg)
c.2327C>G (p.Pro776Arg)
c.2414C>G (p.Pro805Arg)
c.2576C>G (p.Pro859Arg)
c.2657C>G (p.Pro886Arg)
c.*676C>G (n.*676C>G)
c.2897C>G (p.Pro966Arg)
c.2471C>G (p.Pro824Arg)
c.2495C>G (p.Pro832Arg)
n.2626C>G
c.2891C>G (p.Pro964Arg)
n.3071C>G
n.3051C>G
c.2543C>G (p.Pro848Arg)
n.3036C>G
20g.3228289G>TCA408084707SLC4A11c.2528C>A (p.Pro843His)
c.2459C>A (p.Pro820His)
c.2327C>A (p.Pro776His)
c.2414C>A (p.Pro805His)
c.2576C>A (p.Pro859His)
c.2657C>A (p.Pro886His)
c.*676C>A (n.*676C>A)
c.2897C>A (p.Pro966His)
c.2471C>A (p.Pro824His)
c.2495C>A (p.Pro832His)
n.2626C>A
c.2891C>A (p.Pro964His)
n.3071C>A
n.3051C>A
c.2543C>A (p.Pro848His)
n.3036C>A
20g.3228290G>ACA408084711SLC4A11c.2527C>T (p.Pro843Ser)
c.2458C>T (p.Pro820Ser)
c.2326C>T (p.Pro776Ser)
c.2413C>T (p.Pro805Ser)
c.2575C>T (p.Pro859Ser)
c.2656C>T (p.Pro886Ser)
c.*675C>T (n.*675C>T)
c.2896C>T (p.Pro966Ser)
c.2470C>T (p.Pro824Ser)
c.2494C>T (p.Pro832Ser)
n.2625C>T
c.2890C>T (p.Pro964Ser)
n.3070C>T
n.3050C>T
c.2542C>T (p.Pro848Ser)
n.3035C>T
20g.3228290G>CCA408084715SLC4A11c.2527C>G (p.Pro843Ala)
c.2458C>G (p.Pro820Ala)
c.2326C>G (p.Pro776Ala)
c.2413C>G (p.Pro805Ala)
c.2575C>G (p.Pro859Ala)
c.2656C>G (p.Pro886Ala)
c.*675C>G (n.*675C>G)
c.2896C>G (p.Pro966Ala)
c.2470C>G (p.Pro824Ala)
c.2494C>G (p.Pro832Ala)
n.2625C>G
c.2890C>G (p.Pro964Ala)
n.3070C>G
n.3050C>G
c.2542C>G (p.Pro848Ala)
n.3035C>G
20g.3228290G>TCA408084712SLC4A11c.2527C>A (p.Pro843Thr)
c.2458C>A (p.Pro820Thr)
c.2326C>A (p.Pro776Thr)
c.2413C>A (p.Pro805Thr)
c.2575C>A (p.Pro859Thr)
c.2656C>A (p.Pro886Thr)
c.*675C>A (n.*675C>A)
c.2896C>A (p.Pro966Thr)
c.2470C>A (p.Pro824Thr)
c.2494C>A (p.Pro832Thr)
n.2625C>A
c.2890C>A (p.Pro964Thr)
n.3070C>A
n.3050C>A
c.2542C>A (p.Pro848Thr)
n.3035C>A
20g.3228291A>CCA408084717SLC4A11c.2526T>G (p.Phe842Leu)
c.2457T>G (p.Phe819Leu)
c.2325T>G (p.Phe775Leu)
c.2412T>G (p.Phe804Leu)
c.2574T>G (p.Phe858Leu)
c.2655T>G (p.Phe885Leu)
c.*674T>G (n.*674T>G)
c.2895T>G (p.Phe965Leu)
c.2469T>G (p.Phe823Leu)
c.2493T>G (p.Phe831Leu)
n.2624T>G
c.2889T>G (p.Phe963Leu)
n.3069T>G
n.3049T>G
c.2541T>G (p.Phe847Leu)
n.3034T>G
20g.3228291A>GCA509557624SLC4A11c.2526T>C (p.Phe842=)
c.2457T>C (p.Phe819=)
c.2325T>C (p.Phe775=)
c.2412T>C (p.Phe804=)
c.2574T>C (p.Phe858=)
c.2655T>C (p.Phe885=)
c.*674T>C (n.*674T>C)
c.2895T>C (p.Phe965=)
c.2469T>C (p.Phe823=)
c.2493T>C (p.Phe831=)
n.2624T>C
c.2889T>C (p.Phe963=)
n.3069T>C
n.3049T>C
c.2541T>C (p.Phe847=)
n.3034T>C
20g.3228291A>TCA408084719SLC4A11c.2526T>A (p.Phe842Leu)
c.2457T>A (p.Phe819Leu)
c.2325T>A (p.Phe775Leu)
c.2412T>A (p.Phe804Leu)
c.2574T>A (p.Phe858Leu)
c.2655T>A (p.Phe885Leu)
c.*674T>A (n.*674T>A)
c.2895T>A (p.Phe965Leu)
c.2469T>A (p.Phe823Leu)
c.2493T>A (p.Phe831Leu)
n.2624T>A
c.2889T>A (p.Phe963Leu)
n.3069T>A
n.3049T>A
c.2541T>A (p.Phe847Leu)
n.3034T>A
20g.3228292A>CCA408084722SLC4A11c.2525T>G (p.Phe842Cys)
c.2456T>G (p.Phe819Cys)
c.2324T>G (p.Phe775Cys)
c.2411T>G (p.Phe804Cys)
c.2573T>G (p.Phe858Cys)
c.2654T>G (p.Phe885Cys)
c.*673T>G (n.*673T>G)
c.2894T>G (p.Phe965Cys)
c.2468T>G (p.Phe823Cys)
c.2492T>G (p.Phe831Cys)
n.2623T>G
c.2888T>G (p.Phe963Cys)
n.3068T>G
n.3048T>G
c.2540T>G (p.Phe847Cys)
n.3033T>G
20g.3228292A>GCA408084724SLC4A11c.2525T>C (p.Phe842Ser)
c.2456T>C (p.Phe819Ser)
c.2324T>C (p.Phe775Ser)
c.2411T>C (p.Phe804Ser)
c.2573T>C (p.Phe858Ser)
c.2654T>C (p.Phe885Ser)
c.*673T>C (n.*673T>C)
c.2894T>C (p.Phe965Ser)
c.2468T>C (p.Phe823Ser)
c.2492T>C (p.Phe831Ser)
n.2623T>C
c.2888T>C (p.Phe963Ser)
n.3068T>C
n.3048T>C
c.2540T>C (p.Phe847Ser)
n.3033T>C
20g.3228292A>TCA408084727SLC4A11c.2525T>A (p.Phe842Tyr)
c.2456T>A (p.Phe819Tyr)
c.2324T>A (p.Phe775Tyr)
c.2411T>A (p.Phe804Tyr)
c.2573T>A (p.Phe858Tyr)
c.2654T>A (p.Phe885Tyr)
c.*673T>A (n.*673T>A)
c.2894T>A (p.Phe965Tyr)
c.2468T>A (p.Phe823Tyr)
c.2492T>A (p.Phe831Tyr)
n.2623T>A
c.2888T>A (p.Phe963Tyr)
n.3068T>A
n.3048T>A
c.2540T>A (p.Phe847Tyr)
n.3033T>A
20g.3228293A>CCA408084730SLC4A11c.2524T>G (p.Phe842Val)
c.2455T>G (p.Phe819Val)
c.2323T>G (p.Phe775Val)
c.2410T>G (p.Phe804Val)
c.2572T>G (p.Phe858Val)
c.2653T>G (p.Phe885Val)
c.*672T>G (n.*672T>G)
c.2893T>G (p.Phe965Val)
c.2467T>G (p.Phe823Val)
c.2491T>G (p.Phe831Val)
n.2622T>G
c.2887T>G (p.Phe963Val)
n.3067T>G
n.3047T>G
c.2539T>G (p.Phe847Val)
n.3032T>G
20g.3228293A>GCA408084732SLC4A11c.2524T>C (p.Phe842Leu)
c.2455T>C (p.Phe819Leu)
c.2323T>C (p.Phe775Leu)
c.2410T>C (p.Phe804Leu)
c.2572T>C (p.Phe858Leu)
c.2653T>C (p.Phe885Leu)
c.*672T>C (n.*672T>C)
c.2893T>C (p.Phe965Leu)
c.2467T>C (p.Phe823Leu)
c.2491T>C (p.Phe831Leu)
n.2622T>C
c.2887T>C (p.Phe963Leu)
n.3067T>C
n.3047T>C
c.2539T>C (p.Phe847Leu)
n.3032T>C
20g.3228293A>TCA408084734SLC4A11c.2524T>A (p.Phe842Ile)
c.2455T>A (p.Phe819Ile)
c.2323T>A (p.Phe775Ile)
c.2410T>A (p.Phe804Ile)
c.2572T>A (p.Phe858Ile)
c.2653T>A (p.Phe885Ile)
c.*672T>A (n.*672T>A)
c.2893T>A (p.Phe965Ile)
c.2467T>A (p.Phe823Ile)
c.2491T>A (p.Phe831Ile)
n.2622T>A
c.2887T>A (p.Phe963Ile)
n.3067T>A
n.3047T>A
c.2539T>A (p.Phe847Ile)
n.3032T>A
20g.3228294G>ACA509557625SLC4A11c.2523C>T (p.Ile841=)
c.2454C>T (p.Ile818=)
c.2322C>T (p.Ile774=)
c.2409C>T (p.Ile803=)
c.2571C>T (p.Ile857=)
c.2652C>T (p.Ile884=)
c.*671C>T (n.*671C>T)
c.2892C>T (p.Ile964=)
c.2466C>T (p.Ile822=)
c.2490C>T (p.Ile830=)
n.2621C>T
c.2886C>T (p.Ile962=)
n.3066C>T
n.3046C>T
c.2538C>T (p.Ile846=)
n.3031C>T
20g.3228294G>CCA408084736SLC4A11c.2523C>G (p.Ile841Met)
c.2454C>G (p.Ile818Met)
c.2322C>G (p.Ile774Met)
c.2409C>G (p.Ile803Met)
c.2571C>G (p.Ile857Met)
c.2652C>G (p.Ile884Met)
c.*671C>G (n.*671C>G)
c.2892C>G (p.Ile964Met)
c.2466C>G (p.Ile822Met)
c.2490C>G (p.Ile830Met)
n.2621C>G
c.2886C>G (p.Ile962Met)
n.3066C>G
n.3046C>G
c.2538C>G (p.Ile846Met)
n.3031C>G
20g.3228294G>TCA509557626SLC4A11c.2523C>A (p.Ile841=)
c.2454C>A (p.Ile818=)
c.2322C>A (p.Ile774=)
c.2409C>A (p.Ile803=)
c.2571C>A (p.Ile857=)
c.2652C>A (p.Ile884=)
c.*671C>A (n.*671C>A)
c.2892C>A (p.Ile964=)
c.2466C>A (p.Ile822=)
c.2490C>A (p.Ile830=)
n.2621C>A
c.2886C>A (p.Ile962=)
n.3066C>A
n.3046C>A
c.2538C>A (p.Ile846=)
n.3031C>A
20g.3228295A=CA2346474923SLC4A11c.2522T= (p.Ile841=)
c.2453T= (p.Ile818=)
c.2321T= (p.Ile774=)
c.2408T= (p.Ile803=)
c.2570T= (p.Ile857=)
c.2651T= (p.Ile884=)
c.*670T= (n.*670T=)
c.2891T= (p.Ile964=)
c.2465T= (p.Ile822=)
c.2489T= (p.Ile830=)
n.2620T=
c.2885T= (p.Ile962=)
n.3065T=
n.3045T=
c.2537T= (p.Ile846=)
n.3030T=
20g.3228295A>CCA408084739SLC4A11c.2522T>G (p.Ile841Ser)
c.2453T>G (p.Ile818Ser)
c.2321T>G (p.Ile774Ser)
c.2408T>G (p.Ile803Ser)
c.2570T>G (p.Ile857Ser)
c.2651T>G (p.Ile884Ser)
c.*670T>G (n.*670T>G)
c.2891T>G (p.Ile964Ser)
c.2465T>G (p.Ile822Ser)
c.2489T>G (p.Ile830Ser)
n.2620T>G
c.2885T>G (p.Ile962Ser)
n.3065T>G
n.3045T>G
c.2537T>G (p.Ile846Ser)
n.3030T>G
20g.3228295A>GCA9741442SLC4A11c.2522T>C (p.Ile841Thr)
c.2453T>C (p.Ile818Thr)
c.2321T>C (p.Ile774Thr)
c.2408T>C (p.Ile803Thr)
c.2570T>C (p.Ile857Thr)
c.2651T>C (p.Ile884Thr)
c.*670T>C (n.*670T>C)
c.2891T>C (p.Ile964Thr)
c.2465T>C (p.Ile822Thr)
c.2489T>C (p.Ile830Thr)
n.2620T>C
c.2885T>C (p.Ile962Thr)
n.3065T>C
n.3045T>C
c.2537T>C (p.Ile846Thr)
n.3030T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228295A>TCA408084740SLC4A11c.2522T>A (p.Ile841Asn)
c.2453T>A (p.Ile818Asn)
c.2321T>A (p.Ile774Asn)
c.2408T>A (p.Ile803Asn)
c.2570T>A (p.Ile857Asn)
c.2651T>A (p.Ile884Asn)
c.*670T>A (n.*670T>A)
c.2891T>A (p.Ile964Asn)
c.2465T>A (p.Ile822Asn)
c.2489T>A (p.Ile830Asn)
n.2620T>A
c.2885T>A (p.Ile962Asn)
n.3065T>A
n.3045T>A
c.2537T>A (p.Ile846Asn)
n.3030T>A
20g.3228296T>ACA408084746SLC4A11c.2521A>T (p.Ile841Phe)
c.2452A>T (p.Ile818Phe)
c.2320A>T (p.Ile774Phe)
c.2407A>T (p.Ile803Phe)
c.2569A>T (p.Ile857Phe)
c.2650A>T (p.Ile884Phe)
c.*669A>T (n.*669A>T)
c.2890A>T (p.Ile964Phe)
c.2464A>T (p.Ile822Phe)
c.2488A>T (p.Ile830Phe)
n.2619A>T
c.2884A>T (p.Ile962Phe)
n.3064A>T
n.3044A>T
c.2536A>T (p.Ile846Phe)
n.3029A>T
 gnomAD v4
20g.3228296T>CCA9741443SLC4A11c.2521A>G (p.Ile841Val)
c.2452A>G (p.Ile818Val)
c.2320A>G (p.Ile774Val)
c.2407A>G (p.Ile803Val)
c.2569A>G (p.Ile857Val)
c.2650A>G (p.Ile884Val)
c.*669A>G (n.*669A>G)
c.2890A>G (p.Ile964Val)
c.2464A>G (p.Ile822Val)
c.2488A>G (p.Ile830Val)
n.2619A>G
c.2884A>G (p.Ile962Val)
n.3064A>G
n.3044A>G
c.2536A>G (p.Ile846Val)
n.3029A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228296T>GCA408084744SLC4A11c.2521A>C (p.Ile841Leu)
c.2452A>C (p.Ile818Leu)
c.2320A>C (p.Ile774Leu)
c.2407A>C (p.Ile803Leu)
c.2569A>C (p.Ile857Leu)
c.2650A>C (p.Ile884Leu)
c.*669A>C (n.*669A>C)
c.2890A>C (p.Ile964Leu)
c.2464A>C (p.Ile822Leu)
c.2488A>C (p.Ile830Leu)
n.2619A>C
c.2884A>C (p.Ile962Leu)
n.3064A>C
n.3044A>C
c.2536A>C (p.Ile846Leu)
n.3029A>C
20g.3228296T=CA2346474924SLC4A11c.2521A= (p.Ile841=)
c.2452A= (p.Ile818=)
c.2320A= (p.Ile774=)
c.2407A= (p.Ile803=)
c.2569A= (p.Ile857=)
c.2650A= (p.Ile884=)
c.*669A= (n.*669A=)
c.2890A= (p.Ile964=)
c.2464A= (p.Ile822=)
c.2488A= (p.Ile830=)
n.2619A=
c.2884A= (p.Ile962=)
n.3064A=
n.3044A=
c.2536A= (p.Ile846=)
n.3029A=
20g.3228297C>ACA408084748SLC4A11c.2520G>T (p.Met840Ile)
c.2451G>T (p.Met817Ile)
c.2319G>T (p.Met773Ile)
c.2406G>T (p.Met802Ile)
c.2568G>T (p.Met856Ile)
c.2649G>T (p.Met883Ile)
c.*668G>T (n.*668G>T)
c.2889G>T (p.Met963Ile)
c.2463G>T (p.Met821Ile)
c.2487G>T (p.Met829Ile)
n.2618G>T
c.2883G>T (p.Met961Ile)
n.3063G>T
n.3043G>T
c.2535G>T (p.Met845Ile)
n.3028G>T
20g.3228297C=CA2346474925SLC4A11c.2520G= (p.Met840=)
c.2451G= (p.Met817=)
c.2319G= (p.Met773=)
c.2406G= (p.Met802=)
c.2568G= (p.Met856=)
c.2649G= (p.Met883=)
c.*668G= (n.*668G=)
c.2889G= (p.Met963=)
c.2463G= (p.Met821=)
c.2487G= (p.Met829=)
n.2618G=
c.2883G= (p.Met961=)
n.3063G=
n.3043G=
c.2535G= (p.Met845=)
n.3028G=
20g.3228297C>GCA408084751SLC4A11c.2520G>C (p.Met840Ile)
c.2451G>C (p.Met817Ile)
c.2319G>C (p.Met773Ile)
c.2406G>C (p.Met802Ile)
c.2568G>C (p.Met856Ile)
c.2649G>C (p.Met883Ile)
c.*668G>C (n.*668G>C)
c.2889G>C (p.Met963Ile)
c.2463G>C (p.Met821Ile)
c.2487G>C (p.Met829Ile)
n.2618G>C
c.2883G>C (p.Met961Ile)
n.3063G>C
n.3043G>C
c.2535G>C (p.Met845Ile)
n.3028G>C
20g.3228297C>TCA408084752SLC4A11c.2520G>A (p.Met840Ile)
c.2451G>A (p.Met817Ile)
c.2319G>A (p.Met773Ile)
c.2406G>A (p.Met802Ile)
c.2568G>A (p.Met856Ile)
c.2649G>A (p.Met883Ile)
c.*668G>A (n.*668G>A)
c.2889G>A (p.Met963Ile)
c.2463G>A (p.Met821Ile)
c.2487G>A (p.Met829Ile)
n.2618G>A
c.2883G>A (p.Met961Ile)
n.3063G>A
n.3043G>A
c.2535G>A (p.Met845Ile)
n.3028G>A
20g.3228298A>CCA408084755SLC4A11c.2519T>G (p.Met840Arg)
c.2450T>G (p.Met817Arg)
c.2318T>G (p.Met773Arg)
c.2405T>G (p.Met802Arg)
c.2567T>G (p.Met856Arg)
c.2648T>G (p.Met883Arg)
c.*667T>G (n.*667T>G)
c.2888T>G (p.Met963Arg)
c.2462T>G (p.Met821Arg)
c.2486T>G (p.Met829Arg)
n.2617T>G
c.2882T>G (p.Met961Arg)
n.3062T>G
n.3042T>G
c.2534T>G (p.Met845Arg)
n.3027T>G
20g.3228298A>GCA408084756SLC4A11c.2519T>C (p.Met840Thr)
c.2450T>C (p.Met817Thr)
c.2318T>C (p.Met773Thr)
c.2405T>C (p.Met802Thr)
c.2567T>C (p.Met856Thr)
c.2648T>C (p.Met883Thr)
c.*667T>C (n.*667T>C)
c.2888T>C (p.Met963Thr)
c.2462T>C (p.Met821Thr)
c.2486T>C (p.Met829Thr)
n.2617T>C
c.2882T>C (p.Met961Thr)
n.3062T>C
n.3042T>C
c.2534T>C (p.Met845Thr)
n.3027T>C
20g.3228298A>TCA408084759SLC4A11c.2519T>A (p.Met840Lys)
c.2450T>A (p.Met817Lys)
c.2318T>A (p.Met773Lys)
c.2405T>A (p.Met802Lys)
c.2567T>A (p.Met856Lys)
c.2648T>A (p.Met883Lys)
c.*667T>A (n.*667T>A)
c.2888T>A (p.Met963Lys)
c.2462T>A (p.Met821Lys)
c.2486T>A (p.Met829Lys)
n.2617T>A
c.2882T>A (p.Met961Lys)
n.3062T>A
n.3042T>A
c.2534T>A (p.Met845Lys)
n.3027T>A
20g.3228298_3228301dupCA2346474926SLC4A11c.2516_2519dup (p.Met840IlefsTer24)
c.2447_2450dup (p.Met817IlefsTer24)
c.2315_2318dup (p.Met773IlefsTer24)
c.2402_2405dup (p.Met802IlefsTer24)
c.2564_2567dup (p.Met856IlefsTer24)
c.2645_2648dup (p.Met883IlefsTer24)
c.*664_*667dup (n.*664_*667dup)
c.2885_2888dup (p.Met963IlefsTer24)
c.2459_2462dup (p.Met821IlefsTer24)
c.2483_2486dup (p.Met829IlefsTer24)
n.2614_2617dup
c.2879_2882dup (p.Met961IlefsTer24)
n.3059_3062dup
n.3039_3042dup
c.2531_2534dup (p.Met845IlefsTer24)
n.3024_3027dup
 dbSNP
20g.3228299T>ACA408084762SLC4A11c.2518A>T (p.Met840Leu)
c.2449A>T (p.Met817Leu)
c.2317A>T (p.Met773Leu)
c.2404A>T (p.Met802Leu)
c.2566A>T (p.Met856Leu)
c.2647A>T (p.Met883Leu)
c.*666A>T (n.*666A>T)
c.2887A>T (p.Met963Leu)
c.2461A>T (p.Met821Leu)
c.2485A>T (p.Met829Leu)
n.2616A>T
c.2881A>T (p.Met961Leu)
n.3061A>T
n.3041A>T
c.2533A>T (p.Met845Leu)
n.3026A>T
20g.3228299T>CCA114918SLC4A11c.2518A>G (p.Met840Val)
c.2449A>G (p.Met817Val)
c.2317A>G (p.Met773Val)
c.2404A>G (p.Met802Val)
c.2566A>G (p.Met856Val)
c.2647A>G (p.Met883Val)
c.*666A>G (n.*666A>G)
c.2887A>G (p.Met963Val)
c.2461A>G (p.Met821Val)
c.2485A>G (p.Met829Val)
n.2616A>G
c.2881A>G (p.Met961Val)
n.3061A>G
n.3041A>G
c.2533A>G (p.Met845Val)
n.3026A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228299T>GCA408084765SLC4A11c.2518A>C (p.Met840Leu)
c.2449A>C (p.Met817Leu)
c.2317A>C (p.Met773Leu)
c.2404A>C (p.Met802Leu)
c.2566A>C (p.Met856Leu)
c.2647A>C (p.Met883Leu)
c.*666A>C (n.*666A>C)
c.2887A>C (p.Met963Leu)
c.2461A>C (p.Met821Leu)
c.2485A>C (p.Met829Leu)
n.2616A>C
c.2881A>C (p.Met961Leu)
n.3061A>C
n.3041A>C
c.2533A>C (p.Met845Leu)
n.3026A>C
20g.3228299T=CA2346474927SLC4A11c.2518A= (p.Met840=)
c.2449A= (p.Met817=)
c.2317A= (p.Met773=)
c.2404A= (p.Met802=)
c.2566A= (p.Met856=)
c.2647A= (p.Met883=)
c.*666A= (n.*666A=)
c.2887A= (p.Met963=)
c.2461A= (p.Met821=)
c.2485A= (p.Met829=)
n.2616A=
c.2881A= (p.Met961=)
n.3061A=
n.3041A=
c.2533A= (p.Met845=)
n.3026A=
20g.3228300C>ACA408084768SLC4A11c.2517G>T (p.Lys839Asn)
c.2448G>T (p.Lys816Asn)
c.2316G>T (p.Lys772Asn)
c.2403G>T (p.Lys801Asn)
c.2565G>T (p.Lys855Asn)
c.2646G>T (p.Lys882Asn)
c.*665G>T (n.*665G>T)
c.2886G>T (p.Lys962Asn)
c.2460G>T (p.Lys820Asn)
c.2484G>T (p.Lys828Asn)
n.2615G>T
c.2880G>T (p.Lys960Asn)
n.3060G>T
n.3040G>T
c.2532G>T (p.Lys844Asn)
n.3025G>T
20g.3228300C=CA2346474928SLC4A11c.2517G= (p.Lys839=)
c.2448G= (p.Lys816=)
c.2316G= (p.Lys772=)
c.2403G= (p.Lys801=)
c.2565G= (p.Lys855=)
c.2646G= (p.Lys882=)
c.*665G= (n.*665G=)
c.2886G= (p.Lys962=)
c.2460G= (p.Lys820=)
c.2484G= (p.Lys828=)
n.2615G=
c.2880G= (p.Lys960=)
n.3060G=
n.3040G=
c.2532G= (p.Lys844=)
n.3025G=
20g.3228300C>GCA408084770SLC4A11c.2517G>C (p.Lys839Asn)
c.2448G>C (p.Lys816Asn)
c.2316G>C (p.Lys772Asn)
c.2403G>C (p.Lys801Asn)
c.2565G>C (p.Lys855Asn)
c.2646G>C (p.Lys882Asn)
c.*665G>C (n.*665G>C)
c.2886G>C (p.Lys962Asn)
c.2460G>C (p.Lys820Asn)
c.2484G>C (p.Lys828Asn)
n.2615G>C
c.2880G>C (p.Lys960Asn)
n.3060G>C
n.3040G>C
c.2532G>C (p.Lys844Asn)
n.3025G>C
 dbSNP gnomAD v3 gnomAD v4
20g.3228300C>TCA310984769SLC4A11c.2517G>A (p.Lys839=)
c.2448G>A (p.Lys816=)
c.2316G>A (p.Lys772=)
c.2403G>A (p.Lys801=)
c.2565G>A (p.Lys855=)
c.2646G>A (p.Lys882=)
c.*665G>A (n.*665G>A)
c.2886G>A (p.Lys962=)
c.2460G>A (p.Lys820=)
c.2484G>A (p.Lys828=)
n.2615G>A
c.2880G>A (p.Lys960=)
n.3060G>A
n.3040G>A
c.2532G>A (p.Lys844=)
n.3025G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228301T>ACA408084778SLC4A11c.2516A>T (p.Lys839Met)
c.2447A>T (p.Lys816Met)
c.2315A>T (p.Lys772Met)
c.2402A>T (p.Lys801Met)
c.2564A>T (p.Lys855Met)
c.2645A>T (p.Lys882Met)
c.*664A>T (n.*664A>T)
c.2885A>T (p.Lys962Met)
c.2459A>T (p.Lys820Met)
c.2483A>T (p.Lys828Met)
n.2614A>T
c.2879A>T (p.Lys960Met)
n.3059A>T
n.3039A>T
c.2531A>T (p.Lys844Met)
n.3024A>T
20g.3228301T>CCA408084776SLC4A11c.2516A>G (p.Lys839Arg)
c.2447A>G (p.Lys816Arg)
c.2315A>G (p.Lys772Arg)
c.2402A>G (p.Lys801Arg)
c.2564A>G (p.Lys855Arg)
c.2645A>G (p.Lys882Arg)
c.*664A>G (n.*664A>G)
c.2885A>G (p.Lys962Arg)
c.2459A>G (p.Lys820Arg)
c.2483A>G (p.Lys828Arg)
n.2614A>G
c.2879A>G (p.Lys960Arg)
n.3059A>G
n.3039A>G
c.2531A>G (p.Lys844Arg)
n.3024A>G
20g.3228301T>GCA408084774SLC4A11c.2516A>C (p.Lys839Thr)
c.2447A>C (p.Lys816Thr)
c.2315A>C (p.Lys772Thr)
c.2402A>C (p.Lys801Thr)
c.2564A>C (p.Lys855Thr)
c.2645A>C (p.Lys882Thr)
c.*664A>C (n.*664A>C)
c.2885A>C (p.Lys962Thr)
c.2459A>C (p.Lys820Thr)
c.2483A>C (p.Lys828Thr)
n.2614A>C
c.2879A>C (p.Lys960Thr)
n.3059A>C
n.3039A>C
c.2531A>C (p.Lys844Thr)
n.3024A>C
20g.3228302T>ACA408084781SLC4A11c.2515A>T (p.Lys839Ter)
c.2446A>T (p.Lys816Ter)
c.2314A>T (p.Lys772Ter)
c.2401A>T (p.Lys801Ter)
c.2563A>T (p.Lys855Ter)
c.2644A>T (p.Lys882Ter)
c.*663A>T (n.*663A>T)
c.2884A>T (p.Lys962Ter)
c.2458A>T (p.Lys820Ter)
c.2482A>T (p.Lys828Ter)
n.2613A>T
c.2878A>T (p.Lys960Ter)
n.3058A>T
n.3038A>T
c.2530A>T (p.Lys844Ter)
n.3023A>T
20g.3228302T>CCA408084786SLC4A11c.2515A>G (p.Lys839Glu)
c.2446A>G (p.Lys816Glu)
c.2314A>G (p.Lys772Glu)
c.2401A>G (p.Lys801Glu)
c.2563A>G (p.Lys855Glu)
c.2644A>G (p.Lys882Glu)
c.*663A>G (n.*663A>G)
c.2884A>G (p.Lys962Glu)
c.2458A>G (p.Lys820Glu)
c.2482A>G (p.Lys828Glu)
n.2613A>G
c.2878A>G (p.Lys960Glu)
n.3058A>G
n.3038A>G
c.2530A>G (p.Lys844Glu)
n.3023A>G
20g.3228302T>GCA408084783SLC4A11c.2515A>C (p.Lys839Gln)
c.2446A>C (p.Lys816Gln)
c.2314A>C (p.Lys772Gln)
c.2401A>C (p.Lys801Gln)
c.2563A>C (p.Lys855Gln)
c.2644A>C (p.Lys882Gln)
c.*663A>C (n.*663A>C)
c.2884A>C (p.Lys962Gln)
c.2458A>C (p.Lys820Gln)
c.2482A>C (p.Lys828Gln)
n.2613A>C
c.2878A>C (p.Lys960Gln)
n.3058A>C
n.3038A>C
c.2530A>C (p.Lys844Gln)
n.3023A>C
20g.3228303C>ACA408084789SLC4A11c.2514G>T (p.Met838Ile)
c.2445G>T (p.Met815Ile)
c.2313G>T (p.Met771Ile)
c.2400G>T (p.Met800Ile)
c.2562G>T (p.Met854Ile)
c.2643G>T (p.Met881Ile)
c.*662G>T (n.*662G>T)
c.2883G>T (p.Met961Ile)
c.2457G>T (p.Met819Ile)
c.2481G>T (p.Met827Ile)
n.2612G>T
c.2877G>T (p.Met959Ile)
n.3057G>T
n.3037G>T
c.2529G>T (p.Met843Ile)
n.3022G>T
20g.3228303C>GCA408084791SLC4A11c.2514G>C (p.Met838Ile)
c.2445G>C (p.Met815Ile)
c.2313G>C (p.Met771Ile)
c.2400G>C (p.Met800Ile)
c.2562G>C (p.Met854Ile)
c.2643G>C (p.Met881Ile)
c.*662G>C (n.*662G>C)
c.2883G>C (p.Met961Ile)
c.2457G>C (p.Met819Ile)
c.2481G>C (p.Met827Ile)
n.2612G>C
c.2877G>C (p.Met959Ile)
n.3057G>C
n.3037G>C
c.2529G>C (p.Met843Ile)
n.3022G>C
20g.3228303C>TCA408084793SLC4A11c.2514G>A (p.Met838Ile)
c.2445G>A (p.Met815Ile)
c.2313G>A (p.Met771Ile)
c.2400G>A (p.Met800Ile)
c.2562G>A (p.Met854Ile)
c.2643G>A (p.Met881Ile)
c.*662G>A (n.*662G>A)
c.2883G>A (p.Met961Ile)
c.2457G>A (p.Met819Ile)
c.2481G>A (p.Met827Ile)
n.2612G>A
c.2877G>A (p.Met959Ile)
n.3057G>A
n.3037G>A
c.2529G>A (p.Met843Ile)
n.3022G>A
20g.3228304A=CA2346474929SLC4A11c.2513T= (p.Met838=)
c.2444T= (p.Met815=)
c.2312T= (p.Met771=)
c.2399T= (p.Met800=)
c.2561T= (p.Met854=)
c.2642T= (p.Met881=)
c.*661T= (n.*661T=)
c.2882T= (p.Met961=)
c.2456T= (p.Met819=)
c.2480T= (p.Met827=)
n.2611T=
c.2876T= (p.Met959=)
n.3056T=
n.3036T=
c.2528T= (p.Met843=)
n.3021T=
20g.3228304A>CCA9741444SLC4A11c.2513T>G (p.Met838Arg)
c.2444T>G (p.Met815Arg)
c.2312T>G (p.Met771Arg)
c.2399T>G (p.Met800Arg)
c.2561T>G (p.Met854Arg)
c.2642T>G (p.Met881Arg)
c.*661T>G (n.*661T>G)
c.2882T>G (p.Met961Arg)
c.2456T>G (p.Met819Arg)
c.2480T>G (p.Met827Arg)
n.2611T>G
c.2876T>G (p.Met959Arg)
n.3056T>G
n.3036T>G
c.2528T>G (p.Met843Arg)
n.3021T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228304A>GCA408084796SLC4A11c.2513T>C (p.Met838Thr)
c.2444T>C (p.Met815Thr)
c.2312T>C (p.Met771Thr)
c.2399T>C (p.Met800Thr)
c.2561T>C (p.Met854Thr)
c.2642T>C (p.Met881Thr)
c.*661T>C (n.*661T>C)
c.2882T>C (p.Met961Thr)
c.2456T>C (p.Met819Thr)
c.2480T>C (p.Met827Thr)
n.2611T>C
c.2876T>C (p.Met959Thr)
n.3056T>C
n.3036T>C
c.2528T>C (p.Met843Thr)
n.3021T>C
20g.3228304A>TCA408084798SLC4A11c.2513T>A (p.Met838Lys)
c.2444T>A (p.Met815Lys)
c.2312T>A (p.Met771Lys)
c.2399T>A (p.Met800Lys)
c.2561T>A (p.Met854Lys)
c.2642T>A (p.Met881Lys)
c.*661T>A (n.*661T>A)
c.2882T>A (p.Met961Lys)
c.2456T>A (p.Met819Lys)
c.2480T>A (p.Met827Lys)
n.2611T>A
c.2876T>A (p.Met959Lys)
n.3056T>A
n.3036T>A
c.2528T>A (p.Met843Lys)
n.3021T>A
20g.3228305T>ACA9741446SLC4A11c.2512A>T (p.Met838Leu)
c.2443A>T (p.Met815Leu)
c.2311A>T (p.Met771Leu)
c.2398A>T (p.Met800Leu)
c.2560A>T (p.Met854Leu)
c.2641A>T (p.Met881Leu)
c.*660A>T (n.*660A>T)
c.2881A>T (p.Met961Leu)
c.2455A>T (p.Met819Leu)
c.2479A>T (p.Met827Leu)
n.2610A>T
c.2875A>T (p.Met959Leu)
n.3055A>T
n.3035A>T
c.2527A>T (p.Met843Leu)
n.3020A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228305T>CCA9741445SLC4A11c.2512A>G (p.Met838Val)
c.2443A>G (p.Met815Val)
c.2311A>G (p.Met771Val)
c.2398A>G (p.Met800Val)
c.2560A>G (p.Met854Val)
c.2641A>G (p.Met881Val)
c.*660A>G (n.*660A>G)
c.2881A>G (p.Met961Val)
c.2455A>G (p.Met819Val)
c.2479A>G (p.Met827Val)
n.2610A>G
c.2875A>G (p.Met959Val)
n.3055A>G
n.3035A>G
c.2527A>G (p.Met843Val)
n.3020A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.3228305T>GCA408084802SLC4A11c.2512A>C (p.Met838Leu)
c.2443A>C (p.Met815Leu)
c.2311A>C (p.Met771Leu)
c.2398A>C (p.Met800Leu)
c.2560A>C (p.Met854Leu)
c.2641A>C (p.Met881Leu)
c.*660A>C (n.*660A>C)
c.2881A>C (p.Met961Leu)
c.2455A>C (p.Met819Leu)
c.2479A>C (p.Met827Leu)
n.2610A>C
c.2875A>C (p.Met959Leu)
n.3055A>C
n.3035A>C
c.2527A>C (p.Met843Leu)
n.3020A>C
 gnomAD v4
20g.3228305T=CA2346474930SLC4A11c.2512A= (p.Met838=)
c.2443A= (p.Met815=)
c.2311A= (p.Met771=)
c.2398A= (p.Met800=)
c.2560A= (p.Met854=)
c.2641A= (p.Met881=)
c.*660A= (n.*660A=)
c.2881A= (p.Met961=)
c.2455A= (p.Met819=)
c.2479A= (p.Met827=)
n.2610A=
c.2875A= (p.Met959=)
n.3055A=
n.3035A=
c.2527A= (p.Met843=)
n.3020A=
20g.3228306delCA2651691199SLC4A11c.2511del (p.Tyr837Ter)
c.2442del (p.Tyr814Ter)
c.2310del (p.Tyr770Ter)
c.2397del (p.Tyr799Ter)
c.2559del (p.Tyr853Ter)
c.2640del (p.Tyr880Ter)
c.*659del (n.*659del)
c.2880del (p.Tyr960Ter)
c.2454del (p.Tyr818Ter)
c.2478del (p.Tyr826Ter)
n.2609del
c.2874del (p.Tyr958Ter)
n.3054del
n.3034del
c.2526del (p.Tyr842Ter)
n.3019del
 gnomAD v4
20g.3228306G>ACA509557627SLC4A11c.2511C>T (p.Tyr837=)
c.2442C>T (p.Tyr814=)
c.2310C>T (p.Tyr770=)
c.2397C>T (p.Tyr799=)
c.2559C>T (p.Tyr853=)
c.2640C>T (p.Tyr880=)
c.*659C>T (n.*659C>T)
c.2880C>T (p.Tyr960=)
c.2454C>T (p.Tyr818=)
c.2478C>T (p.Tyr826=)
n.2609C>T
c.2874C>T (p.Tyr958=)
n.3054C>T
n.3034C>T
c.2526C>T (p.Tyr842=)
n.3019C>T
 dbSNP gnomAD v3 gnomAD v4
20g.3228306G>CCA408084806SLC4A11c.2511C>G (p.Tyr837Ter)
c.2442C>G (p.Tyr814Ter)
c.2310C>G (p.Tyr770Ter)
c.2397C>G (p.Tyr799Ter)
c.2559C>G (p.Tyr853Ter)
c.2640C>G (p.Tyr880Ter)
c.*659C>G (n.*659C>G)
c.2880C>G (p.Tyr960Ter)
c.2454C>G (p.Tyr818Ter)
c.2478C>G (p.Tyr826Ter)
n.2609C>G
c.2874C>G (p.Tyr958Ter)
n.3054C>G
n.3034C>G
c.2526C>G (p.Tyr842Ter)
n.3019C>G
20g.3228306G=CA2346474931SLC4A11c.2511C= (p.Tyr837=)
c.2442C= (p.Tyr814=)
c.2310C= (p.Tyr770=)
c.2397C= (p.Tyr799=)
c.2559C= (p.Tyr853=)
c.2640C= (p.Tyr880=)
c.*659C= (n.*659C=)
c.2880C= (p.Tyr960=)
c.2454C= (p.Tyr818=)
c.2478C= (p.Tyr826=)
n.2609C=
c.2874C= (p.Tyr958=)
n.3054C=
n.3034C=
c.2526C= (p.Tyr842=)
n.3019C=
20g.3228306G>TCA408084808SLC4A11c.2511C>A (p.Tyr837Ter)
c.2442C>A (p.Tyr814Ter)
c.2310C>A (p.Tyr770Ter)
c.2397C>A (p.Tyr799Ter)
c.2559C>A (p.Tyr853Ter)
c.2640C>A (p.Tyr880Ter)
c.*659C>A (n.*659C>A)
c.2880C>A (p.Tyr960Ter)
c.2454C>A (p.Tyr818Ter)
c.2478C>A (p.Tyr826Ter)
n.2609C>A
c.2874C>A (p.Tyr958Ter)
n.3054C>A
n.3034C>A
c.2526C>A (p.Tyr842Ter)
n.3019C>A
20g.3228307T>ACA408084815SLC4A11c.2510A>T (p.Tyr837Phe)
c.2441A>T (p.Tyr814Phe)
c.2309A>T (p.Tyr770Phe)
c.2396A>T (p.Tyr799Phe)
c.2558A>T (p.Tyr853Phe)
c.2639A>T (p.Tyr880Phe)
c.*658A>T (n.*658A>T)
c.2879A>T (p.Tyr960Phe)
c.2453A>T (p.Tyr818Phe)
c.2477A>T (p.Tyr826Phe)
n.2608A>T
c.2873A>T (p.Tyr958Phe)
n.3053A>T
n.3033A>T
c.2525A>T (p.Tyr842Phe)
n.3018A>T
20g.3228307T>CCA408084812SLC4A11c.2510A>G (p.Tyr837Cys)
c.2441A>G (p.Tyr814Cys)
c.2309A>G (p.Tyr770Cys)
c.2396A>G (p.Tyr799Cys)
c.2558A>G (p.Tyr853Cys)
c.2639A>G (p.Tyr880Cys)
c.*658A>G (n.*658A>G)
c.2879A>G (p.Tyr960Cys)
c.2453A>G (p.Tyr818Cys)
c.2477A>G (p.Tyr826Cys)
n.2608A>G
c.2873A>G (p.Tyr958Cys)
n.3053A>G
n.3033A>G
c.2525A>G (p.Tyr842Cys)
n.3018A>G
20g.3228307T>GCA408084811SLC4A11c.2510A>C (p.Tyr837Ser)
c.2441A>C (p.Tyr814Ser)
c.2309A>C (p.Tyr770Ser)
c.2396A>C (p.Tyr799Ser)
c.2558A>C (p.Tyr853Ser)
c.2639A>C (p.Tyr880Ser)
c.*658A>C (n.*658A>C)
c.2879A>C (p.Tyr960Ser)
c.2453A>C (p.Tyr818Ser)
c.2477A>C (p.Tyr826Ser)
n.2608A>C
c.2873A>C (p.Tyr958Ser)
n.3053A>C
n.3033A>C
c.2525A>C (p.Tyr842Ser)
n.3018A>C
20g.3228308A>CCA408084818SLC4A11c.2509T>G (p.Tyr837Asp)
c.2440T>G (p.Tyr814Asp)
c.2308T>G (p.Tyr770Asp)
c.2395T>G (p.Tyr799Asp)
c.2557T>G (p.Tyr853Asp)
c.2638T>G (p.Tyr880Asp)
c.*657T>G (n.*657T>G)
c.2878T>G (p.Tyr960Asp)
c.2452T>G (p.Tyr818Asp)
c.2476T>G (p.Tyr826Asp)
n.2607T>G
c.2872T>G (p.Tyr958Asp)
n.3052T>G
n.3032T>G
c.2524T>G (p.Tyr842Asp)
n.3017T>G
20g.3228308A>GCA408084819SLC4A11c.2509T>C (p.Tyr837His)
c.2440T>C (p.Tyr814His)
c.2308T>C (p.Tyr770His)
c.2395T>C (p.Tyr799His)
c.2557T>C (p.Tyr853His)
c.2638T>C (p.Tyr880His)
c.*657T>C (n.*657T>C)
c.2878T>C (p.Tyr960His)
c.2452T>C (p.Tyr818His)
c.2476T>C (p.Tyr826His)
n.2607T>C
c.2872T>C (p.Tyr958His)
n.3052T>C
n.3032T>C
c.2524T>C (p.Tyr842His)
n.3017T>C
20g.3228308A>TCA408084822SLC4A11c.2509T>A (p.Tyr837Asn)
c.2440T>A (p.Tyr814Asn)
c.2308T>A (p.Tyr770Asn)
c.2395T>A (p.Tyr799Asn)
c.2557T>A (p.Tyr853Asn)
c.2638T>A (p.Tyr880Asn)
c.*657T>A (n.*657T>A)
c.2878T>A (p.Tyr960Asn)
c.2452T>A (p.Tyr818Asn)
c.2476T>A (p.Tyr826Asn)
n.2607T>A
c.2872T>A (p.Tyr958Asn)
n.3052T>A
n.3032T>A
c.2524T>A (p.Tyr842Asn)
n.3017T>A
20g.3228309G>ACA509557628SLC4A11c.2508C>T (p.Pro836=)
c.2439C>T (p.Pro813=)
c.2307C>T (p.Pro769=)
c.2394C>T (p.Pro798=)
c.2556C>T (p.Pro852=)
c.2637C>T (p.Pro879=)
c.*656C>T (n.*656C>T)
c.2877C>T (p.Pro959=)
c.2451C>T (p.Pro817=)
c.2475C>T (p.Pro825=)
n.2606C>T
c.2871C>T (p.Pro957=)
n.3051C>T
n.3031C>T
c.2523C>T (p.Pro841=)
n.3016C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228309G>CCA509557629SLC4A11c.2508C>G (p.Pro836=)
c.2439C>G (p.Pro813=)
c.2307C>G (p.Pro769=)
c.2394C>G (p.Pro798=)
c.2556C>G (p.Pro852=)
c.2637C>G (p.Pro879=)
c.*656C>G (n.*656C>G)
c.2877C>G (p.Pro959=)
c.2451C>G (p.Pro817=)
c.2475C>G (p.Pro825=)
n.2606C>G
c.2871C>G (p.Pro957=)
n.3051C>G
n.3031C>G
c.2523C>G (p.Pro841=)
n.3016C>G
 gnomAD v4
20g.3228309G=CA2346474932SLC4A11c.2508C= (p.Pro836=)
c.2439C= (p.Pro813=)
c.2307C= (p.Pro769=)
c.2394C= (p.Pro798=)
c.2556C= (p.Pro852=)
c.2637C= (p.Pro879=)
c.*656C= (n.*656C=)
c.2877C= (p.Pro959=)
c.2451C= (p.Pro817=)
c.2475C= (p.Pro825=)
n.2606C=
c.2871C= (p.Pro957=)
n.3051C=
n.3031C=
c.2523C= (p.Pro841=)
n.3016C=
20g.3228309G>TCA509557630SLC4A11c.2508C>A (p.Pro836=)
c.2439C>A (p.Pro813=)
c.2307C>A (p.Pro769=)
c.2394C>A (p.Pro798=)
c.2556C>A (p.Pro852=)
c.2637C>A (p.Pro879=)
c.*656C>A (n.*656C>A)
c.2877C>A (p.Pro959=)
c.2451C>A (p.Pro817=)
c.2475C>A (p.Pro825=)
n.2606C>A
c.2871C>A (p.Pro957=)
n.3051C>A
n.3031C>A
c.2523C>A (p.Pro841=)
n.3016C>A
20g.3228310G>ACA408084825SLC4A11c.2507C>T (p.Pro836Leu)
c.2438C>T (p.Pro813Leu)
c.2306C>T (p.Pro769Leu)
c.2393C>T (p.Pro798Leu)
c.2555C>T (p.Pro852Leu)
c.2636C>T (p.Pro879Leu)
c.*655C>T (n.*655C>T)
c.2876C>T (p.Pro959Leu)
c.2450C>T (p.Pro817Leu)
c.2474C>T (p.Pro825Leu)
n.2605C>T
c.2870C>T (p.Pro957Leu)
n.3050C>T
n.3030C>T
c.2522C>T (p.Pro841Leu)
n.3015C>T
20g.3228310G>CCA408084827SLC4A11c.2507C>G (p.Pro836Arg)
c.2438C>G (p.Pro813Arg)
c.2306C>G (p.Pro769Arg)
c.2393C>G (p.Pro798Arg)
c.2555C>G (p.Pro852Arg)
c.2636C>G (p.Pro879Arg)
c.*655C>G (n.*655C>G)
c.2876C>G (p.Pro959Arg)
c.2450C>G (p.Pro817Arg)
c.2474C>G (p.Pro825Arg)
n.2605C>G
c.2870C>G (p.Pro957Arg)
n.3050C>G
n.3030C>G
c.2522C>G (p.Pro841Arg)
n.3015C>G
20g.3228310G=CA2346474933SLC4A11c.2507C= (p.Pro836=)
c.2438C= (p.Pro813=)
c.2306C= (p.Pro769=)
c.2393C= (p.Pro798=)
c.2555C= (p.Pro852=)
c.2636C= (p.Pro879=)
c.*655C= (n.*655C=)
c.2876C= (p.Pro959=)
c.2450C= (p.Pro817=)
c.2474C= (p.Pro825=)
n.2605C=
c.2870C= (p.Pro957=)
n.3050C=
n.3030C=
c.2522C= (p.Pro841=)
n.3015C=
20g.3228310G>TCA408084829SLC4A11c.2507C>A (p.Pro836His)
c.2438C>A (p.Pro813His)
c.2306C>A (p.Pro769His)
c.2393C>A (p.Pro798His)
c.2555C>A (p.Pro852His)
c.2636C>A (p.Pro879His)
c.*655C>A (n.*655C>A)
c.2876C>A (p.Pro959His)
c.2450C>A (p.Pro817His)
c.2474C>A (p.Pro825His)
n.2605C>A
c.2870C>A (p.Pro957His)
n.3050C>A
n.3030C>A
c.2522C>A (p.Pro841His)
n.3015C>A
 dbSNP
20g.3228311G>ACA9741447SLC4A11c.2506C>T (p.Pro836Ser)
c.2437C>T (p.Pro813Ser)
c.2305C>T (p.Pro769Ser)
c.2392C>T (p.Pro798Ser)
c.2554C>T (p.Pro852Ser)
c.2635C>T (p.Pro879Ser)
c.*654C>T (n.*654C>T)
c.2875C>T (p.Pro959Ser)
c.2449C>T (p.Pro817Ser)
c.2473C>T (p.Pro825Ser)
n.2604C>T
c.2869C>T (p.Pro957Ser)
n.3049C>T
n.3029C>T
c.2521C>T (p.Pro841Ser)
n.3014C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228311G>CCA408084832SLC4A11c.2506C>G (p.Pro836Ala)
c.2437C>G (p.Pro813Ala)
c.2305C>G (p.Pro769Ala)
c.2392C>G (p.Pro798Ala)
c.2554C>G (p.Pro852Ala)
c.2635C>G (p.Pro879Ala)
c.*654C>G (n.*654C>G)
c.2875C>G (p.Pro959Ala)
c.2449C>G (p.Pro817Ala)
c.2473C>G (p.Pro825Ala)
n.2604C>G
c.2869C>G (p.Pro957Ala)
n.3049C>G
n.3029C>G
c.2521C>G (p.Pro841Ala)
n.3014C>G
20g.3228311G=CA2346474934SLC4A11c.2506C= (p.Pro836=)
c.2437C= (p.Pro813=)
c.2305C= (p.Pro769=)
c.2392C= (p.Pro798=)
c.2554C= (p.Pro852=)
c.2635C= (p.Pro879=)
c.*654C= (n.*654C=)
c.2875C= (p.Pro959=)
c.2449C= (p.Pro817=)
c.2473C= (p.Pro825=)
n.2604C=
c.2869C= (p.Pro957=)
n.3049C=
n.3029C=
c.2521C= (p.Pro841=)
n.3014C=
20g.3228311G>TCA408084834SLC4A11c.2506C>A (p.Pro836Thr)
c.2437C>A (p.Pro813Thr)
c.2305C>A (p.Pro769Thr)
c.2392C>A (p.Pro798Thr)
c.2554C>A (p.Pro852Thr)
c.2635C>A (p.Pro879Thr)
c.*654C>A (n.*654C>A)
c.2875C>A (p.Pro959Thr)
c.2449C>A (p.Pro817Thr)
c.2473C>A (p.Pro825Thr)
n.2604C>A
c.2869C>A (p.Pro957Thr)
n.3049C>A
n.3029C>A
c.2521C>A (p.Pro841Thr)
n.3014C>A
 gnomAD v4
20g.3228312C>ACA509557631SLC4A11c.2505G>T (p.Leu835=)
c.2436G>T (p.Leu812=)
c.2304G>T (p.Leu768=)
c.2391G>T (p.Leu797=)
c.2553G>T (p.Leu851=)
c.2634G>T (p.Leu878=)
c.*653G>T (n.*653G>T)
c.2874G>T (p.Leu958=)
c.2448G>T (p.Leu816=)
c.2472G>T (p.Leu824=)
n.2603G>T
c.2868G>T (p.Leu956=)
n.3048G>T
n.3028G>T
c.2520G>T (p.Leu840=)
n.3013G>T
20g.3228312C=CA2346474935SLC4A11c.2505G= (p.Leu835=)
c.2436G= (p.Leu812=)
c.2304G= (p.Leu768=)
c.2391G= (p.Leu797=)
c.2553G= (p.Leu851=)
c.2634G= (p.Leu878=)
c.*653G= (n.*653G=)
c.2874G= (p.Leu958=)
c.2448G= (p.Leu816=)
c.2472G= (p.Leu824=)
n.2603G=
c.2868G= (p.Leu956=)
n.3048G=
n.3028G=
c.2520G= (p.Leu840=)
n.3013G=
20g.3228312C>GCA509557633SLC4A11c.2505G>C (p.Leu835=)
c.2436G>C (p.Leu812=)
c.2304G>C (p.Leu768=)
c.2391G>C (p.Leu797=)
c.2553G>C (p.Leu851=)
c.2634G>C (p.Leu878=)
c.*653G>C (n.*653G>C)
c.2874G>C (p.Leu958=)
c.2448G>C (p.Leu816=)
c.2472G>C (p.Leu824=)
n.2603G>C
c.2868G>C (p.Leu956=)
n.3048G>C
n.3028G>C
c.2520G>C (p.Leu840=)
n.3013G>C
20g.3228312C>TCA509557632SLC4A11c.2505G>A (p.Leu835=)
c.2436G>A (p.Leu812=)
c.2304G>A (p.Leu768=)
c.2391G>A (p.Leu797=)
c.2553G>A (p.Leu851=)
c.2634G>A (p.Leu878=)
c.*653G>A (n.*653G>A)
c.2874G>A (p.Leu958=)
c.2448G>A (p.Leu816=)
c.2472G>A (p.Leu824=)
n.2603G>A
c.2868G>A (p.Leu956=)
n.3048G>A
n.3028G>A
c.2520G>A (p.Leu840=)
n.3013G>A
 ClinVar dbSNP gnomAD v4
20g.3228313A>CCA408084836SLC4A11c.2504T>G (p.Leu835Arg)
c.2435T>G (p.Leu812Arg)
c.2303T>G (p.Leu768Arg)
c.2390T>G (p.Leu797Arg)
c.2552T>G (p.Leu851Arg)
c.2633T>G (p.Leu878Arg)
c.*652T>G (n.*652T>G)
c.2873T>G (p.Leu958Arg)
c.2447T>G (p.Leu816Arg)
c.2471T>G (p.Leu824Arg)
n.2602T>G
c.2867T>G (p.Leu956Arg)
n.3047T>G
n.3027T>G
c.2519T>G (p.Leu840Arg)
n.3012T>G
20g.3228313A>GCA408084839SLC4A11c.2504T>C (p.Leu835Pro)
c.2435T>C (p.Leu812Pro)
c.2303T>C (p.Leu768Pro)
c.2390T>C (p.Leu797Pro)
c.2552T>C (p.Leu851Pro)
c.2633T>C (p.Leu878Pro)
c.*652T>C (n.*652T>C)
c.2873T>C (p.Leu958Pro)
c.2447T>C (p.Leu816Pro)
c.2471T>C (p.Leu824Pro)
n.2602T>C
c.2867T>C (p.Leu956Pro)
n.3047T>C
n.3027T>C
c.2519T>C (p.Leu840Pro)
n.3012T>C
20g.3228313A>TCA408084841SLC4A11c.2504T>A (p.Leu835Gln)
c.2435T>A (p.Leu812Gln)
c.2303T>A (p.Leu768Gln)
c.2390T>A (p.Leu797Gln)
c.2552T>A (p.Leu851Gln)
c.2633T>A (p.Leu878Gln)
c.*652T>A (n.*652T>A)
c.2873T>A (p.Leu958Gln)
c.2447T>A (p.Leu816Gln)
c.2471T>A (p.Leu824Gln)
n.2602T>A
c.2867T>A (p.Leu956Gln)
n.3047T>A
n.3027T>A
c.2519T>A (p.Leu840Gln)
n.3012T>A
20g.3228314G>ACA509557634SLC4A11c.2503C>T (p.Leu835=)
c.2434C>T (p.Leu812=)
c.2302C>T (p.Leu768=)
c.2389C>T (p.Leu797=)
c.2551C>T (p.Leu851=)
c.2632C>T (p.Leu878=)
c.*651C>T (n.*651C>T)
c.2872C>T (p.Leu958=)
c.2446C>T (p.Leu816=)
c.2470C>T (p.Leu824=)
n.2601C>T
c.2866C>T (p.Leu956=)
n.3046C>T
n.3026C>T
c.2518C>T (p.Leu840=)
n.3011C>T
 ClinVar dbSNP gnomAD v4
20g.3228314G>CCA408084846SLC4A11c.2503C>G (p.Leu835Val)
c.2434C>G (p.Leu812Val)
c.2302C>G (p.Leu768Val)
c.2389C>G (p.Leu797Val)
c.2551C>G (p.Leu851Val)
c.2632C>G (p.Leu878Val)
c.*651C>G (n.*651C>G)
c.2872C>G (p.Leu958Val)
c.2446C>G (p.Leu816Val)
c.2470C>G (p.Leu824Val)
n.2601C>G
c.2866C>G (p.Leu956Val)
n.3046C>G
n.3026C>G
c.2518C>G (p.Leu840Val)
n.3011C>G
20g.3228314G=CA2346474936SLC4A11c.2503C= (p.Leu835=)
c.2434C= (p.Leu812=)
c.2302C= (p.Leu768=)
c.2389C= (p.Leu797=)
c.2551C= (p.Leu851=)
c.2632C= (p.Leu878=)
c.*651C= (n.*651C=)
c.2872C= (p.Leu958=)
c.2446C= (p.Leu816=)
c.2470C= (p.Leu824=)
n.2601C=
c.2866C= (p.Leu956=)
n.3046C=
n.3026C=
c.2518C= (p.Leu840=)
n.3011C=
20g.3228314G>TCA408084844SLC4A11c.2503C>A (p.Leu835Met)
c.2434C>A (p.Leu812Met)
c.2302C>A (p.Leu768Met)
c.2389C>A (p.Leu797Met)
c.2551C>A (p.Leu851Met)
c.2632C>A (p.Leu878Met)
c.*651C>A (n.*651C>A)
c.2872C>A (p.Leu958Met)
c.2446C>A (p.Leu816Met)
c.2470C>A (p.Leu824Met)
n.2601C>A
c.2866C>A (p.Leu956Met)
n.3046C>A
n.3026C>A
c.2518C>A (p.Leu840Met)
n.3011C>A
20g.3228314_3228318delCA2577323902SLC4A11c.2499_2503del (p.Ser834AlafsTer27)
c.2430_2434del (p.Ser811AlafsTer27)
c.2298_2302del (p.Ser767AlafsTer27)
c.2385_2389del (p.Ser796AlafsTer27)
c.2547_2551del (p.Ser850AlafsTer27)
c.2628_2632del (p.Ser877AlafsTer27)
c.*647_*651del (n.*647_*651del)
c.2868_2872del (p.Ser957AlafsTer27)
c.2442_2446del (p.Ser815AlafsTer27)
c.2466_2470del (p.Ser823AlafsTer27)
n.2597_2601del
c.2862_2866del (p.Ser955AlafsTer27)
n.3042_3046del
n.3022_3026del
c.2514_2518del (p.Ser839AlafsTer27)
n.3007_3011del
20g.3228315G>ACA509557635SLC4A11c.2502C>T (p.Ser834=)
c.2433C>T (p.Ser811=)
c.2301C>T (p.Ser767=)
c.2388C>T (p.Ser796=)
c.2550C>T (p.Ser850=)
c.2631C>T (p.Ser877=)
c.*650C>T (n.*650C>T)
c.2871C>T (p.Ser957=)
c.2445C>T (p.Ser815=)
c.2469C>T (p.Ser823=)
n.2600C>T
c.2865C>T (p.Ser955=)
n.3045C>T
n.3025C>T
c.2517C>T (p.Ser839=)
n.3010C>T
20g.3228315G>CCA509557636SLC4A11c.2502C>G (p.Ser834=)
c.2433C>G (p.Ser811=)
c.2301C>G (p.Ser767=)
c.2388C>G (p.Ser796=)
c.2550C>G (p.Ser850=)
c.2631C>G (p.Ser877=)
c.*650C>G (n.*650C>G)
c.2871C>G (p.Ser957=)
c.2445C>G (p.Ser815=)
c.2469C>G (p.Ser823=)
n.2600C>G
c.2865C>G (p.Ser955=)
n.3045C>G
n.3025C>G
c.2517C>G (p.Ser839=)
n.3010C>G
20g.3228315G>TCA509557637SLC4A11c.2502C>A (p.Ser834=)
c.2433C>A (p.Ser811=)
c.2301C>A (p.Ser767=)
c.2388C>A (p.Ser796=)
c.2550C>A (p.Ser850=)
c.2631C>A (p.Ser877=)
c.*650C>A (n.*650C>A)
c.2871C>A (p.Ser957=)
c.2445C>A (p.Ser815=)
c.2469C>A (p.Ser823=)
n.2600C>A
c.2865C>A (p.Ser955=)
n.3045C>A
n.3025C>A
c.2517C>A (p.Ser839=)
n.3010C>A
20g.3228316G>ACA408084847SLC4A11c.2501C>T (p.Ser834Phe)
c.2432C>T (p.Ser811Phe)
c.2300C>T (p.Ser767Phe)
c.2387C>T (p.Ser796Phe)
c.2549C>T (p.Ser850Phe)
c.2630C>T (p.Ser877Phe)
c.*649C>T (n.*649C>T)
c.2870C>T (p.Ser957Phe)
c.2444C>T (p.Ser815Phe)
c.2468C>T (p.Ser823Phe)
n.2599C>T
c.2864C>T (p.Ser955Phe)
n.3044C>T
n.3024C>T
c.2516C>T (p.Ser839Phe)
n.3009C>T
 dbSNP gnomAD v4 COSMIC COSMIC
20g.3228316G>CCA408084851SLC4A11c.2501C>G (p.Ser834Cys)
c.2432C>G (p.Ser811Cys)
c.2300C>G (p.Ser767Cys)
c.2387C>G (p.Ser796Cys)
c.2549C>G (p.Ser850Cys)
c.2630C>G (p.Ser877Cys)
c.*649C>G (n.*649C>G)
c.2870C>G (p.Ser957Cys)
c.2444C>G (p.Ser815Cys)
c.2468C>G (p.Ser823Cys)
n.2599C>G
c.2864C>G (p.Ser955Cys)
n.3044C>G
n.3024C>G
c.2516C>G (p.Ser839Cys)
n.3009C>G
20g.3228316G=CA2346474937SLC4A11c.2501C= (p.Ser834=)
c.2432C= (p.Ser811=)
c.2300C= (p.Ser767=)
c.2387C= (p.Ser796=)
c.2549C= (p.Ser850=)
c.2630C= (p.Ser877=)
c.*649C= (n.*649C=)
c.2870C= (p.Ser957=)
c.2444C= (p.Ser815=)
c.2468C= (p.Ser823=)
n.2599C=
c.2864C= (p.Ser955=)
n.3044C=
n.3024C=
c.2516C= (p.Ser839=)
n.3009C=
20g.3228316G>TCA408084849SLC4A11c.2501C>A (p.Ser834Tyr)
c.2432C>A (p.Ser811Tyr)
c.2300C>A (p.Ser767Tyr)
c.2387C>A (p.Ser796Tyr)
c.2549C>A (p.Ser850Tyr)
c.2630C>A (p.Ser877Tyr)
c.*649C>A (n.*649C>A)
c.2870C>A (p.Ser957Tyr)
c.2444C>A (p.Ser815Tyr)
c.2468C>A (p.Ser823Tyr)
n.2599C>A
c.2864C>A (p.Ser955Tyr)
n.3044C>A
n.3024C>A
c.2516C>A (p.Ser839Tyr)
n.3009C>A
20g.3228317A>CCA408084854SLC4A11c.2500T>G (p.Ser834Ala)
c.2431T>G (p.Ser811Ala)
c.2299T>G (p.Ser767Ala)
c.2386T>G (p.Ser796Ala)
c.2548T>G (p.Ser850Ala)
c.2629T>G (p.Ser877Ala)
c.*648T>G (n.*648T>G)
c.2869T>G (p.Ser957Ala)
c.2443T>G (p.Ser815Ala)
c.2467T>G (p.Ser823Ala)
n.2598T>G
c.2863T>G (p.Ser955Ala)
n.3043T>G
n.3023T>G
c.2515T>G (p.Ser839Ala)
n.3008T>G
20g.3228317A>GCA408084856SLC4A11c.2500T>C (p.Ser834Pro)
c.2431T>C (p.Ser811Pro)
c.2299T>C (p.Ser767Pro)
c.2386T>C (p.Ser796Pro)
c.2548T>C (p.Ser850Pro)
c.2629T>C (p.Ser877Pro)
c.*648T>C (n.*648T>C)
c.2869T>C (p.Ser957Pro)
c.2443T>C (p.Ser815Pro)
c.2467T>C (p.Ser823Pro)
n.2598T>C
c.2863T>C (p.Ser955Pro)
n.3043T>C
n.3023T>C
c.2515T>C (p.Ser839Pro)
n.3008T>C
20g.3228317A>TCA408084858SLC4A11c.2500T>A (p.Ser834Thr)
c.2431T>A (p.Ser811Thr)
c.2299T>A (p.Ser767Thr)
c.2386T>A (p.Ser796Thr)
c.2548T>A (p.Ser850Thr)
c.2629T>A (p.Ser877Thr)
c.*648T>A (n.*648T>A)
c.2869T>A (p.Ser957Thr)
c.2443T>A (p.Ser815Thr)
c.2467T>A (p.Ser823Thr)
n.2598T>A
c.2863T>A (p.Ser955Thr)
n.3043T>A
n.3023T>A
c.2515T>A (p.Ser839Thr)
n.3008T>A
20g.3228318G>ACA509557638SLC4A11c.2499C>T (p.Ser833=)
c.2430C>T (p.Ser810=)
c.2298C>T (p.Ser766=)
c.2385C>T (p.Ser795=)
c.2547C>T (p.Ser849=)
c.2628C>T (p.Ser876=)
c.*647C>T (n.*647C>T)
c.2868C>T (p.Ser956=)
c.2442C>T (p.Ser814=)
c.2466C>T (p.Ser822=)
n.2597C>T
c.2862C>T (p.Ser954=)
n.3042C>T
n.3022C>T
c.2514C>T (p.Ser838=)
n.3007C>T
 dbSNP
20g.3228318G>CCA408084861SLC4A11c.2499C>G (p.Ser833Arg)
c.2430C>G (p.Ser810Arg)
c.2298C>G (p.Ser766Arg)
c.2385C>G (p.Ser795Arg)
c.2547C>G (p.Ser849Arg)
c.2628C>G (p.Ser876Arg)
c.*647C>G (n.*647C>G)
c.2868C>G (p.Ser956Arg)
c.2442C>G (p.Ser814Arg)
c.2466C>G (p.Ser822Arg)
n.2597C>G
c.2862C>G (p.Ser954Arg)
n.3042C>G
n.3022C>G
c.2514C>G (p.Ser838Arg)
n.3007C>G
20g.3228318G>TCA408084863SLC4A11c.2499C>A (p.Ser833Arg)
c.2430C>A (p.Ser810Arg)
c.2298C>A (p.Ser766Arg)
c.2385C>A (p.Ser795Arg)
c.2547C>A (p.Ser849Arg)
c.2628C>A (p.Ser876Arg)
c.*647C>A (n.*647C>A)
c.2868C>A (p.Ser956Arg)
c.2442C>A (p.Ser814Arg)
c.2466C>A (p.Ser822Arg)
n.2597C>A
c.2862C>A (p.Ser954Arg)
n.3042C>A
n.3022C>A
c.2514C>A (p.Ser838Arg)
n.3007C>A
20g.3228319C>ACA408084866SLC4A11c.2498G>T (p.Ser833Ile)
c.2429G>T (p.Ser810Ile)
c.2297G>T (p.Ser766Ile)
c.2384G>T (p.Ser795Ile)
c.2546G>T (p.Ser849Ile)
c.2627G>T (p.Ser876Ile)
c.*646G>T (n.*646G>T)
c.2867G>T (p.Ser956Ile)
c.2441G>T (p.Ser814Ile)
c.2465G>T (p.Ser822Ile)
n.2596G>T
c.2861G>T (p.Ser954Ile)
n.3041G>T
n.3021G>T
c.2513G>T (p.Ser838Ile)
n.3006G>T
20g.3228319C=CA2346474938SLC4A11c.2498G= (p.Ser833=)
c.2429G= (p.Ser810=)
c.2297G= (p.Ser766=)
c.2384G= (p.Ser795=)
c.2546G= (p.Ser849=)
c.2627G= (p.Ser876=)
c.*646G= (n.*646G=)
c.2867G= (p.Ser956=)
c.2441G= (p.Ser814=)
c.2465G= (p.Ser822=)
n.2596G=
c.2861G= (p.Ser954=)
n.3041G=
n.3021G=
c.2513G= (p.Ser838=)
n.3006G=
20g.3228319C>GCA408084868SLC4A11c.2498G>C (p.Ser833Thr)
c.2429G>C (p.Ser810Thr)
c.2297G>C (p.Ser766Thr)
c.2384G>C (p.Ser795Thr)
c.2546G>C (p.Ser849Thr)
c.2627G>C (p.Ser876Thr)
c.*646G>C (n.*646G>C)
c.2867G>C (p.Ser956Thr)
c.2441G>C (p.Ser814Thr)
c.2465G>C (p.Ser822Thr)
n.2596G>C
c.2861G>C (p.Ser954Thr)
n.3041G>C
n.3021G>C
c.2513G>C (p.Ser838Thr)
n.3006G>C
 gnomAD v4
20g.3228319C>TCA408084870SLC4A11c.2498G>A (p.Ser833Asn)
c.2429G>A (p.Ser810Asn)
c.2297G>A (p.Ser766Asn)
c.2384G>A (p.Ser795Asn)
c.2546G>A (p.Ser849Asn)
c.2627G>A (p.Ser876Asn)
c.*646G>A (n.*646G>A)
c.2867G>A (p.Ser956Asn)
c.2441G>A (p.Ser814Asn)
c.2465G>A (p.Ser822Asn)
n.2596G>A
c.2861G>A (p.Ser954Asn)
n.3041G>A
n.3021G>A
c.2513G>A (p.Ser838Asn)
n.3006G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228320T>ACA408084873SLC4A11c.2497A>T (p.Ser833Cys)
c.2428A>T (p.Ser810Cys)
c.2296A>T (p.Ser766Cys)
c.2383A>T (p.Ser795Cys)
c.2545A>T (p.Ser849Cys)
c.2626A>T (p.Ser876Cys)
c.*645A>T (n.*645A>T)
c.2866A>T (p.Ser956Cys)
c.2440A>T (p.Ser814Cys)
c.2464A>T (p.Ser822Cys)
n.2595A>T
c.2860A>T (p.Ser954Cys)
n.3040A>T
n.3020A>T
c.2512A>T (p.Ser838Cys)
n.3005A>T
20g.3228320T>CCA9741448SLC4A11c.2497A>G (p.Ser833Gly)
c.2428A>G (p.Ser810Gly)
c.2296A>G (p.Ser766Gly)
c.2383A>G (p.Ser795Gly)
c.2545A>G (p.Ser849Gly)
c.2626A>G (p.Ser876Gly)
c.*645A>G (n.*645A>G)
c.2866A>G (p.Ser956Gly)
c.2440A>G (p.Ser814Gly)
c.2464A>G (p.Ser822Gly)
n.2595A>G
c.2860A>G (p.Ser954Gly)
n.3040A>G
n.3020A>G
c.2512A>G (p.Ser838Gly)
n.3005A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228320T>GCA408084876SLC4A11c.2497A>C (p.Ser833Arg)
c.2428A>C (p.Ser810Arg)
c.2296A>C (p.Ser766Arg)
c.2383A>C (p.Ser795Arg)
c.2545A>C (p.Ser849Arg)
c.2626A>C (p.Ser876Arg)
c.*645A>C (n.*645A>C)
c.2866A>C (p.Ser956Arg)
c.2440A>C (p.Ser814Arg)
c.2464A>C (p.Ser822Arg)
n.2595A>C
c.2860A>C (p.Ser954Arg)
n.3040A>C
n.3020A>C
c.2512A>C (p.Ser838Arg)
n.3005A>C
20g.3228320T=CA2346474939SLC4A11c.2497A= (p.Ser833=)
c.2428A= (p.Ser810=)
c.2296A= (p.Ser766=)
c.2383A= (p.Ser795=)
c.2545A= (p.Ser849=)
c.2626A= (p.Ser876=)
c.*645A= (n.*645A=)
c.2866A= (p.Ser956=)
c.2440A= (p.Ser814=)
c.2464A= (p.Ser822=)
n.2595A=
c.2860A= (p.Ser954=)
n.3040A=
n.3020A=
c.2512A= (p.Ser838=)
n.3005A=
20g.3228321C>ACA408084883SLC4A11c.2496G>T (p.Met832Ile)
c.2427G>T (p.Met809Ile)
c.2295G>T (p.Met765Ile)
c.2382G>T (p.Met794Ile)
c.2544G>T (p.Met848Ile)
c.2625G>T (p.Met875Ile)
c.*644G>T (n.*644G>T)
c.2865G>T (p.Met955Ile)
c.2439G>T (p.Met813Ile)
c.2463G>T (p.Met821Ile)
n.2594G>T
c.2859G>T (p.Met953Ile)
n.3039G>T
n.3019G>T
c.2511G>T (p.Met837Ile)
n.3004G>T
20g.3228321C=CA2346474940SLC4A11c.2496G= (p.Met832=)
c.2427G= (p.Met809=)
c.2295G= (p.Met765=)
c.2382G= (p.Met794=)
c.2544G= (p.Met848=)
c.2625G= (p.Met875=)
c.*644G= (n.*644G=)
c.2865G= (p.Met955=)
c.2439G= (p.Met813=)
c.2463G= (p.Met821=)
n.2594G=
c.2859G= (p.Met953=)
n.3039G=
n.3019G=
c.2511G= (p.Met837=)
n.3004G=
20g.3228321C>GCA408084881SLC4A11c.2496G>C (p.Met832Ile)
c.2427G>C (p.Met809Ile)
c.2295G>C (p.Met765Ile)
c.2382G>C (p.Met794Ile)
c.2544G>C (p.Met848Ile)
c.2625G>C (p.Met875Ile)
c.*644G>C (n.*644G>C)
c.2865G>C (p.Met955Ile)
c.2439G>C (p.Met813Ile)
c.2463G>C (p.Met821Ile)
n.2594G>C
c.2859G>C (p.Met953Ile)
n.3039G>C
n.3019G>C
c.2511G>C (p.Met837Ile)
n.3004G>C
20g.3228321C>TCA9741449SLC4A11c.2496G>A (p.Met832Ile)
c.2427G>A (p.Met809Ile)
c.2295G>A (p.Met765Ile)
c.2382G>A (p.Met794Ile)
c.2544G>A (p.Met848Ile)
c.2625G>A (p.Met875Ile)
c.*644G>A (n.*644G>A)
c.2865G>A (p.Met955Ile)
c.2439G>A (p.Met813Ile)
c.2463G>A (p.Met821Ile)
n.2594G>A
c.2859G>A (p.Met953Ile)
n.3039G>A
n.3019G>A
c.2511G>A (p.Met837Ile)
n.3004G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228322A>CCA408084886SLC4A11c.2495T>G (p.Met832Arg)
c.2426T>G (p.Met809Arg)
c.2294T>G (p.Met765Arg)
c.2381T>G (p.Met794Arg)
c.2543T>G (p.Met848Arg)
c.2624T>G (p.Met875Arg)
c.*643T>G (n.*643T>G)
c.2864T>G (p.Met955Arg)
c.2438T>G (p.Met813Arg)
c.2462T>G (p.Met821Arg)
n.2593T>G
c.2858T>G (p.Met953Arg)
n.3038T>G
n.3018T>G
c.2510T>G (p.Met837Arg)
n.3003T>G
20g.3228322A>GCA408084888SLC4A11c.2495T>C (p.Met832Thr)
c.2426T>C (p.Met809Thr)
c.2294T>C (p.Met765Thr)
c.2381T>C (p.Met794Thr)
c.2543T>C (p.Met848Thr)
c.2624T>C (p.Met875Thr)
c.*643T>C (n.*643T>C)
c.2864T>C (p.Met955Thr)
c.2438T>C (p.Met813Thr)
c.2462T>C (p.Met821Thr)
n.2593T>C
c.2858T>C (p.Met953Thr)
n.3038T>C
n.3018T>C
c.2510T>C (p.Met837Thr)
n.3003T>C
20g.3228322A>TCA408084891SLC4A11c.2495T>A (p.Met832Lys)
c.2426T>A (p.Met809Lys)
c.2294T>A (p.Met765Lys)
c.2381T>A (p.Met794Lys)
c.2543T>A (p.Met848Lys)
c.2624T>A (p.Met875Lys)
c.*643T>A (n.*643T>A)
c.2864T>A (p.Met955Lys)
c.2438T>A (p.Met813Lys)
c.2462T>A (p.Met821Lys)
n.2593T>A
c.2858T>A (p.Met953Lys)
n.3038T>A
n.3018T>A
c.2510T>A (p.Met837Lys)
n.3003T>A
20g.3228323T>ACA408084894SLC4A11c.2494A>T (p.Met832Leu)
c.2425A>T (p.Met809Leu)
c.2293A>T (p.Met765Leu)
c.2380A>T (p.Met794Leu)
c.2542A>T (p.Met848Leu)
c.2623A>T (p.Met875Leu)
c.*642A>T (n.*642A>T)
c.2863A>T (p.Met955Leu)
c.2437A>T (p.Met813Leu)
c.2461A>T (p.Met821Leu)
n.2592A>T
c.2857A>T (p.Met953Leu)
n.3037A>T
n.3017A>T
c.2509A>T (p.Met837Leu)
n.3002A>T
20g.3228323T>CCA408084896SLC4A11c.2494A>G (p.Met832Val)
c.2425A>G (p.Met809Val)
c.2293A>G (p.Met765Val)
c.2380A>G (p.Met794Val)
c.2542A>G (p.Met848Val)
c.2623A>G (p.Met875Val)
c.*642A>G (n.*642A>G)
c.2863A>G (p.Met955Val)
c.2437A>G (p.Met813Val)
c.2461A>G (p.Met821Val)
n.2592A>G
c.2857A>G (p.Met953Val)
n.3037A>G
n.3017A>G
c.2509A>G (p.Met837Val)
n.3002A>G
20g.3228323T>GCA408084898SLC4A11c.2494A>C (p.Met832Leu)
c.2425A>C (p.Met809Leu)
c.2293A>C (p.Met765Leu)
c.2380A>C (p.Met794Leu)
c.2542A>C (p.Met848Leu)
c.2623A>C (p.Met875Leu)
c.*642A>C (n.*642A>C)
c.2863A>C (p.Met955Leu)
c.2437A>C (p.Met813Leu)
c.2461A>C (p.Met821Leu)
n.2592A>C
c.2857A>C (p.Met953Leu)
n.3037A>C
n.3017A>C
c.2509A>C (p.Met837Leu)
n.3002A>C
20g.3228324G>ACA509557639SLC4A11c.2493C>T (p.Gly831=)
c.2424C>T (p.Gly808=)
c.2292C>T (p.Gly764=)
c.2379C>T (p.Gly793=)
c.2541C>T (p.Gly847=)
c.2622C>T (p.Gly874=)
c.*641C>T (n.*641C>T)
c.2862C>T (p.Gly954=)
c.2436C>T (p.Gly812=)
c.2460C>T (p.Gly820=)
n.2591C>T
c.2856C>T (p.Gly952=)
n.3036C>T
n.3016C>T
c.2508C>T (p.Gly836=)
n.3001C>T
 dbSNP gnomAD v4
20g.3228324G>CCA509557641SLC4A11c.2493C>G (p.Gly831=)
c.2424C>G (p.Gly808=)
c.2292C>G (p.Gly764=)
c.2379C>G (p.Gly793=)
c.2541C>G (p.Gly847=)
c.2622C>G (p.Gly874=)
c.*641C>G (n.*641C>G)
c.2862C>G (p.Gly954=)
c.2436C>G (p.Gly812=)
c.2460C>G (p.Gly820=)
n.2591C>G
c.2856C>G (p.Gly952=)
n.3036C>G
n.3016C>G
c.2508C>G (p.Gly836=)
n.3001C>G
20g.3228324G=CA2346474941SLC4A11c.2493C= (p.Gly831=)
c.2424C= (p.Gly808=)
c.2292C= (p.Gly764=)
c.2379C= (p.Gly793=)
c.2541C= (p.Gly847=)
c.2622C= (p.Gly874=)
c.*641C= (n.*641C=)
c.2862C= (p.Gly954=)
c.2436C= (p.Gly812=)
c.2460C= (p.Gly820=)
n.2591C=
c.2856C= (p.Gly952=)
n.3036C=
n.3016C=
c.2508C= (p.Gly836=)
n.3001C=
20g.3228324G>TCA509557640SLC4A11c.2493C>A (p.Gly831=)
c.2424C>A (p.Gly808=)
c.2292C>A (p.Gly764=)
c.2379C>A (p.Gly793=)
c.2541C>A (p.Gly847=)
c.2622C>A (p.Gly874=)
c.*641C>A (n.*641C>A)
c.2862C>A (p.Gly954=)
c.2436C>A (p.Gly812=)
c.2460C>A (p.Gly820=)
n.2591C>A
c.2856C>A (p.Gly952=)
n.3036C>A
n.3016C>A
c.2508C>A (p.Gly836=)
n.3001C>A
20g.3228324_3228325insTAGGGCA2577323903SLC4A11c.2493_2494insCCTAC (p.Met832ProfsTer3)
c.2424_2425insCCTAC (p.Met809ProfsTer3)
c.2292_2293insCCTAC (p.Met765ProfsTer3)
c.2379_2380insCCTAC (p.Met794ProfsTer3)
c.2541_2542insCCTAC (p.Met848ProfsTer3)
c.2622_2623insCCTAC (p.Met875ProfsTer3)
c.*641_*642insCCTAC (n.*641_*642insCCTAC)
c.2862_2863insCCTAC (p.Met955ProfsTer3)
c.2436_2437insCCTAC (p.Met813ProfsTer3)
c.2460_2461insCCTAC (p.Met821ProfsTer3)
n.2591_2592insCCTAC
c.2856_2857insCCTAC (p.Met953ProfsTer3)
n.3036_3037insCCTAC
n.3016_3017insCCTAC
c.2508_2509insCCTAC (p.Met837ProfsTer3)
n.3001_3002insCCTAC
20g.3228325C>ACA408084901SLC4A11c.2492G>T (p.Gly831Val)
c.2423G>T (p.Gly808Val)
c.2291G>T (p.Gly764Val)
c.2378G>T (p.Gly793Val)
c.2540G>T (p.Gly847Val)
c.2621G>T (p.Gly874Val)
c.*640G>T (n.*640G>T)
c.2861G>T (p.Gly954Val)
c.2435G>T (p.Gly812Val)
c.2459G>T (p.Gly820Val)
n.2590G>T
c.2855G>T (p.Gly952Val)
n.3035G>T
n.3015G>T
c.2507G>T (p.Gly836Val)
n.3000G>T
20g.3228325C>GCA408084902SLC4A11c.2492G>C (p.Gly831Ala)
c.2423G>C (p.Gly808Ala)
c.2291G>C (p.Gly764Ala)
c.2378G>C (p.Gly793Ala)
c.2540G>C (p.Gly847Ala)
c.2621G>C (p.Gly874Ala)
c.*640G>C (n.*640G>C)
c.2861G>C (p.Gly954Ala)
c.2435G>C (p.Gly812Ala)
c.2459G>C (p.Gly820Ala)
n.2590G>C
c.2855G>C (p.Gly952Ala)
n.3035G>C
n.3015G>C
c.2507G>C (p.Gly836Ala)
n.3000G>C
20g.3228325C>TCA408084903SLC4A11c.2492G>A (p.Gly831Asp)
c.2423G>A (p.Gly808Asp)
c.2291G>A (p.Gly764Asp)
c.2378G>A (p.Gly793Asp)
c.2540G>A (p.Gly847Asp)
c.2621G>A (p.Gly874Asp)
c.*640G>A (n.*640G>A)
c.2861G>A (p.Gly954Asp)
c.2435G>A (p.Gly812Asp)
c.2459G>A (p.Gly820Asp)
n.2590G>A
c.2855G>A (p.Gly952Asp)
n.3035G>A
n.3015G>A
c.2507G>A (p.Gly836Asp)
n.3000G>A
20g.3228326C>ACA408084906SLC4A11c.2491G>T (p.Gly831Cys)
c.2422G>T (p.Gly808Cys)
c.2290G>T (p.Gly764Cys)
c.2377G>T (p.Gly793Cys)
c.2539G>T (p.Gly847Cys)
c.2620G>T (p.Gly874Cys)
c.*639G>T (n.*639G>T)
c.2860G>T (p.Gly954Cys)
c.2434G>T (p.Gly812Cys)
c.2458G>T (p.Gly820Cys)
n.2589G>T
c.2854G>T (p.Gly952Cys)
n.3034G>T
n.3014G>T
c.2506G>T (p.Gly836Cys)
n.2999G>T
20g.3228326C=CA2346474942SLC4A11c.2491G= (p.Gly831=)
c.2422G= (p.Gly808=)
c.2290G= (p.Gly764=)
c.2377G= (p.Gly793=)
c.2539G= (p.Gly847=)
c.2620G= (p.Gly874=)
c.*639G= (n.*639G=)
c.2860G= (p.Gly954=)
c.2434G= (p.Gly812=)
c.2458G= (p.Gly820=)
n.2589G=
c.2854G= (p.Gly952=)
n.3034G=
n.3014G=
c.2506G= (p.Gly836=)
n.2999G=
20g.3228326C>GCA408084908SLC4A11c.2491G>C (p.Gly831Arg)
c.2422G>C (p.Gly808Arg)
c.2290G>C (p.Gly764Arg)
c.2377G>C (p.Gly793Arg)
c.2539G>C (p.Gly847Arg)
c.2620G>C (p.Gly874Arg)
c.*639G>C (n.*639G>C)
c.2860G>C (p.Gly954Arg)
c.2434G>C (p.Gly812Arg)
c.2458G>C (p.Gly820Arg)
n.2589G>C
c.2854G>C (p.Gly952Arg)
n.3034G>C
n.3014G>C
c.2506G>C (p.Gly836Arg)
n.2999G>C
20g.3228326C>TCA9741450SLC4A11c.2491G>A (p.Gly831Ser)
c.2422G>A (p.Gly808Ser)
c.2290G>A (p.Gly764Ser)
c.2377G>A (p.Gly793Ser)
c.2539G>A (p.Gly847Ser)
c.2620G>A (p.Gly874Ser)
c.*639G>A (n.*639G>A)
c.2860G>A (p.Gly954Ser)
c.2434G>A (p.Gly812Ser)
c.2458G>A (p.Gly820Ser)
n.2589G>A
c.2854G>A (p.Gly952Ser)
n.3034G>A
n.3014G>A
c.2506G>A (p.Gly836Ser)
n.2999G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228327G>ACA9741451SLC4A11c.2490C>T (p.Phe830=)
c.2421C>T (p.Phe807=)
c.2289C>T (p.Phe763=)
c.2376C>T (p.Phe792=)
c.2538C>T (p.Phe846=)
c.2619C>T (p.Phe873=)
c.*638C>T (n.*638C>T)
c.2859C>T (p.Phe953=)
c.2433C>T (p.Phe811=)
c.2457C>T (p.Phe819=)
n.2588C>T
c.2853C>T (p.Phe951=)
n.3033C>T
n.3013C>T
c.2505C>T (p.Phe835=)
n.2998C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228327G>CCA408084914SLC4A11c.2490C>G (p.Phe830Leu)
c.2421C>G (p.Phe807Leu)
c.2289C>G (p.Phe763Leu)
c.2376C>G (p.Phe792Leu)
c.2538C>G (p.Phe846Leu)
c.2619C>G (p.Phe873Leu)
c.*638C>G (n.*638C>G)
c.2859C>G (p.Phe953Leu)
c.2433C>G (p.Phe811Leu)
c.2457C>G (p.Phe819Leu)
n.2588C>G
c.2853C>G (p.Phe951Leu)
n.3033C>G
n.3013C>G
c.2505C>G (p.Phe835Leu)
n.2998C>G
20g.3228327G=CA2346474943SLC4A11c.2490C= (p.Phe830=)
c.2421C= (p.Phe807=)
c.2289C= (p.Phe763=)
c.2376C= (p.Phe792=)
c.2538C= (p.Phe846=)
c.2619C= (p.Phe873=)
c.*638C= (n.*638C=)
c.2859C= (p.Phe953=)
c.2433C= (p.Phe811=)
c.2457C= (p.Phe819=)
n.2588C=
c.2853C= (p.Phe951=)
n.3033C=
n.3013C=
c.2505C= (p.Phe835=)
n.2998C=
20g.3228327G>TCA408084912SLC4A11c.2490C>A (p.Phe830Leu)
c.2421C>A (p.Phe807Leu)
c.2289C>A (p.Phe763Leu)
c.2376C>A (p.Phe792Leu)
c.2538C>A (p.Phe846Leu)
c.2619C>A (p.Phe873Leu)
c.*638C>A (n.*638C>A)
c.2859C>A (p.Phe953Leu)
c.2433C>A (p.Phe811Leu)
c.2457C>A (p.Phe819Leu)
n.2588C>A
c.2853C>A (p.Phe951Leu)
n.3033C>A
n.3013C>A
c.2505C>A (p.Phe835Leu)
n.2998C>A
 dbSNP gnomAD v3 gnomAD v4
20g.3228328A>CCA408084918SLC4A11c.2489T>G (p.Phe830Cys)
c.2420T>G (p.Phe807Cys)
c.2288T>G (p.Phe763Cys)
c.2375T>G (p.Phe792Cys)
c.2537T>G (p.Phe846Cys)
c.2618T>G (p.Phe873Cys)
c.*637T>G (n.*637T>G)
c.2858T>G (p.Phe953Cys)
c.2432T>G (p.Phe811Cys)
c.2456T>G (p.Phe819Cys)
n.2587T>G
c.2852T>G (p.Phe951Cys)
n.3032T>G
n.3012T>G
c.2504T>G (p.Phe835Cys)
n.2997T>G
20g.3228328A>GCA408084922SLC4A11c.2489T>C (p.Phe830Ser)
c.2420T>C (p.Phe807Ser)
c.2288T>C (p.Phe763Ser)
c.2375T>C (p.Phe792Ser)
c.2537T>C (p.Phe846Ser)
c.2618T>C (p.Phe873Ser)
c.*637T>C (n.*637T>C)
c.2858T>C (p.Phe953Ser)
c.2432T>C (p.Phe811Ser)
c.2456T>C (p.Phe819Ser)
n.2587T>C
c.2852T>C (p.Phe951Ser)
n.3032T>C
n.3012T>C
c.2504T>C (p.Phe835Ser)
n.2997T>C
20g.3228328A>TCA408084920SLC4A11c.2489T>A (p.Phe830Tyr)
c.2420T>A (p.Phe807Tyr)
c.2288T>A (p.Phe763Tyr)
c.2375T>A (p.Phe792Tyr)
c.2537T>A (p.Phe846Tyr)
c.2618T>A (p.Phe873Tyr)
c.*637T>A (n.*637T>A)
c.2858T>A (p.Phe953Tyr)
c.2432T>A (p.Phe811Tyr)
c.2456T>A (p.Phe819Tyr)
n.2587T>A
c.2852T>A (p.Phe951Tyr)
n.3032T>A
n.3012T>A
c.2504T>A (p.Phe835Tyr)
n.2997T>A
20g.3228329A>CCA408084925SLC4A11c.2488T>G (p.Phe830Val)
c.2419T>G (p.Phe807Val)
c.2287T>G (p.Phe763Val)
c.2374T>G (p.Phe792Val)
c.2536T>G (p.Phe846Val)
c.2617T>G (p.Phe873Val)
c.*636T>G (n.*636T>G)
c.2857T>G (p.Phe953Val)
c.2431T>G (p.Phe811Val)
c.2455T>G (p.Phe819Val)
n.2586T>G
c.2851T>G (p.Phe951Val)
n.3031T>G
n.3011T>G
c.2503T>G (p.Phe835Val)
n.2996T>G
20g.3228329A>GCA408084927SLC4A11c.2488T>C (p.Phe830Leu)
c.2419T>C (p.Phe807Leu)
c.2287T>C (p.Phe763Leu)
c.2374T>C (p.Phe792Leu)
c.2536T>C (p.Phe846Leu)
c.2617T>C (p.Phe873Leu)
c.*636T>C (n.*636T>C)
c.2857T>C (p.Phe953Leu)
c.2431T>C (p.Phe811Leu)
c.2455T>C (p.Phe819Leu)
n.2586T>C
c.2851T>C (p.Phe951Leu)
n.3031T>C
n.3011T>C
c.2503T>C (p.Phe835Leu)
n.2996T>C
20g.3228329A>TCA408084929SLC4A11c.2488T>A (p.Phe830Ile)
c.2419T>A (p.Phe807Ile)
c.2287T>A (p.Phe763Ile)
c.2374T>A (p.Phe792Ile)
c.2536T>A (p.Phe846Ile)
c.2617T>A (p.Phe873Ile)
c.*636T>A (n.*636T>A)
c.2857T>A (p.Phe953Ile)
c.2431T>A (p.Phe811Ile)
c.2455T>A (p.Phe819Ile)
n.2586T>A
c.2851T>A (p.Phe951Ile)
n.3031T>A
n.3011T>A
c.2503T>A (p.Phe835Ile)
n.2996T>A
20g.3228330G>ACA509557642SLC4A11c.2487C>T (p.Ala829=)
c.2418C>T (p.Ala806=)
c.2286C>T (p.Ala762=)
c.2373C>T (p.Ala791=)
c.2535C>T (p.Ala845=)
c.2616C>T (p.Ala872=)
c.*635C>T (n.*635C>T)
c.2856C>T (p.Ala952=)
c.2430C>T (p.Ala810=)
c.2454C>T (p.Ala818=)
n.2585C>T
c.2850C>T (p.Ala950=)
n.3030C>T
n.3010C>T
c.2502C>T (p.Ala834=)
n.2995C>T
20g.3228330G>CCA509557643SLC4A11c.2487C>G (p.Ala829=)
c.2418C>G (p.Ala806=)
c.2286C>G (p.Ala762=)
c.2373C>G (p.Ala791=)
c.2535C>G (p.Ala845=)
c.2616C>G (p.Ala872=)
c.*635C>G (n.*635C>G)
c.2856C>G (p.Ala952=)
c.2430C>G (p.Ala810=)
c.2454C>G (p.Ala818=)
n.2585C>G
c.2850C>G (p.Ala950=)
n.3030C>G
n.3010C>G
c.2502C>G (p.Ala834=)
n.2995C>G
20g.3228330G>TCA509557644SLC4A11c.2487C>A (p.Ala829=)
c.2418C>A (p.Ala806=)
c.2286C>A (p.Ala762=)
c.2373C>A (p.Ala791=)
c.2535C>A (p.Ala845=)
c.2616C>A (p.Ala872=)
c.*635C>A (n.*635C>A)
c.2856C>A (p.Ala952=)
c.2430C>A (p.Ala810=)
c.2454C>A (p.Ala818=)
n.2585C>A
c.2850C>A (p.Ala950=)
n.3030C>A
n.3010C>A
c.2502C>A (p.Ala834=)
n.2995C>A
20g.3228331G>ACA408084932SLC4A11c.2486C>T (p.Ala829Val)
c.2417C>T (p.Ala806Val)
c.2285C>T (p.Ala762Val)
c.2372C>T (p.Ala791Val)
c.2534C>T (p.Ala845Val)
c.2615C>T (p.Ala872Val)
c.*634C>T (n.*634C>T)
c.2855C>T (p.Ala952Val)
c.2429C>T (p.Ala810Val)
c.2453C>T (p.Ala818Val)
n.2584C>T
c.2849C>T (p.Ala950Val)
n.3029C>T
n.3009C>T
c.2501C>T (p.Ala834Val)
n.2994C>T
 gnomAD v4
20g.3228331G>CCA408084934SLC4A11c.2486C>G (p.Ala829Gly)
c.2417C>G (p.Ala806Gly)
c.2285C>G (p.Ala762Gly)
c.2372C>G (p.Ala791Gly)
c.2534C>G (p.Ala845Gly)
c.2615C>G (p.Ala872Gly)
c.*634C>G (n.*634C>G)
c.2855C>G (p.Ala952Gly)
c.2429C>G (p.Ala810Gly)
c.2453C>G (p.Ala818Gly)
n.2584C>G
c.2849C>G (p.Ala950Gly)
n.3029C>G
n.3009C>G
c.2501C>G (p.Ala834Gly)
n.2994C>G
20g.3228331G>TCA408084936SLC4A11c.2486C>A (p.Ala829Asp)
c.2417C>A (p.Ala806Asp)
c.2285C>A (p.Ala762Asp)
c.2372C>A (p.Ala791Asp)
c.2534C>A (p.Ala845Asp)
c.2615C>A (p.Ala872Asp)
c.*634C>A (n.*634C>A)
c.2855C>A (p.Ala952Asp)
c.2429C>A (p.Ala810Asp)
c.2453C>A (p.Ala818Asp)
n.2584C>A
c.2849C>A (p.Ala950Asp)
n.3029C>A
n.3009C>A
c.2501C>A (p.Ala834Asp)
n.2994C>A
20g.3228332C>ACA408084943SLC4A11c.2485G>T (p.Ala829Ser)
c.2416G>T (p.Ala806Ser)
c.2284G>T (p.Ala762Ser)
c.2371G>T (p.Ala791Ser)
c.2533G>T (p.Ala845Ser)
c.2614G>T (p.Ala872Ser)
c.*633G>T (n.*633G>T)
c.2854G>T (p.Ala952Ser)
c.2428G>T (p.Ala810Ser)
c.2452G>T (p.Ala818Ser)
n.2583G>T
c.2848G>T (p.Ala950Ser)
n.3028G>T
n.3008G>T
c.2500G>T (p.Ala834Ser)
n.2993G>T
20g.3228332C>GCA408084940SLC4A11c.2485G>C (p.Ala829Pro)
c.2416G>C (p.Ala806Pro)
c.2284G>C (p.Ala762Pro)
c.2371G>C (p.Ala791Pro)
c.2533G>C (p.Ala845Pro)
c.2614G>C (p.Ala872Pro)
c.*633G>C (n.*633G>C)
c.2854G>C (p.Ala952Pro)
c.2428G>C (p.Ala810Pro)
c.2452G>C (p.Ala818Pro)
n.2583G>C
c.2848G>C (p.Ala950Pro)
n.3028G>C
n.3008G>C
c.2500G>C (p.Ala834Pro)
n.2993G>C
20g.3228332C>TCA408084941SLC4A11c.2485G>A (p.Ala829Thr)
c.2416G>A (p.Ala806Thr)
c.2284G>A (p.Ala762Thr)
c.2371G>A (p.Ala791Thr)
c.2533G>A (p.Ala845Thr)
c.2614G>A (p.Ala872Thr)
c.*633G>A (n.*633G>A)
c.2854G>A (p.Ala952Thr)
c.2428G>A (p.Ala810Thr)
c.2452G>A (p.Ala818Thr)
n.2583G>A
c.2848G>A (p.Ala950Thr)
n.3028G>A
n.3008G>A
c.2500G>A (p.Ala834Thr)
n.2993G>A
20g.3228333A>CCA408084946SLC4A11c.2484T>G (p.Cys828Trp)
c.2415T>G (p.Cys805Trp)
c.2283T>G (p.Cys761Trp)
c.2370T>G (p.Cys790Trp)
c.2532T>G (p.Cys844Trp)
c.2613T>G (p.Cys871Trp)
c.*632T>G (n.*632T>G)
c.2853T>G (p.Cys951Trp)
c.2427T>G (p.Cys809Trp)
c.2451T>G (p.Cys817Trp)
n.2582T>G
c.2847T>G (p.Cys949Trp)
n.3027T>G
n.3007T>G
c.2499T>G (p.Cys833Trp)
n.2992T>G
20g.3228333A>GCA509557645SLC4A11c.2484T>C (p.Cys828=)
c.2415T>C (p.Cys805=)
c.2283T>C (p.Cys761=)
c.2370T>C (p.Cys790=)
c.2532T>C (p.Cys844=)
c.2613T>C (p.Cys871=)
c.*632T>C (n.*632T>C)
c.2853T>C (p.Cys951=)
c.2427T>C (p.Cys809=)
c.2451T>C (p.Cys817=)
n.2582T>C
c.2847T>C (p.Cys949=)
n.3027T>C
n.3007T>C
c.2499T>C (p.Cys833=)
n.2992T>C
20g.3228333A>TCA408084949SLC4A11c.2484T>A (p.Cys828Ter)
c.2415T>A (p.Cys805Ter)
c.2283T>A (p.Cys761Ter)
c.2370T>A (p.Cys790Ter)
c.2532T>A (p.Cys844Ter)
c.2613T>A (p.Cys871Ter)
c.*632T>A (n.*632T>A)
c.2853T>A (p.Cys951Ter)
c.2427T>A (p.Cys809Ter)
c.2451T>A (p.Cys817Ter)
n.2582T>A
c.2847T>A (p.Cys949Ter)
n.3027T>A
n.3007T>A
c.2499T>A (p.Cys833Ter)
n.2992T>A
20g.3228334C>ACA408084952SLC4A11c.2483G>T (p.Cys828Phe)
c.2414G>T (p.Cys805Phe)
c.2282G>T (p.Cys761Phe)
c.2369G>T (p.Cys790Phe)
c.2531G>T (p.Cys844Phe)
c.2612G>T (p.Cys871Phe)
c.*631G>T (n.*631G>T)
c.2852G>T (p.Cys951Phe)
c.2426G>T (p.Cys809Phe)
c.2450G>T (p.Cys817Phe)
n.2581G>T
c.2846G>T (p.Cys949Phe)
n.3026G>T
n.3006G>T
c.2498G>T (p.Cys833Phe)
n.2991G>T
20g.3228334C=CA2346474944SLC4A11c.2483G= (p.Cys828=)
c.2414G= (p.Cys805=)
c.2282G= (p.Cys761=)
c.2369G= (p.Cys790=)
c.2531G= (p.Cys844=)
c.2612G= (p.Cys871=)
c.*631G= (n.*631G=)
c.2852G= (p.Cys951=)
c.2426G= (p.Cys809=)
c.2450G= (p.Cys817=)
n.2581G=
c.2846G= (p.Cys949=)
n.3026G=
n.3006G=
c.2498G= (p.Cys833=)
n.2991G=
20g.3228334C>GCA408084953SLC4A11c.2483G>C (p.Cys828Ser)
c.2414G>C (p.Cys805Ser)
c.2282G>C (p.Cys761Ser)
c.2369G>C (p.Cys790Ser)
c.2531G>C (p.Cys844Ser)
c.2612G>C (p.Cys871Ser)
c.*631G>C (n.*631G>C)
c.2852G>C (p.Cys951Ser)
c.2426G>C (p.Cys809Ser)
c.2450G>C (p.Cys817Ser)
n.2581G>C
c.2846G>C (p.Cys949Ser)
n.3026G>C
n.3006G>C
c.2498G>C (p.Cys833Ser)
n.2991G>C
 dbSNP gnomAD v4
20g.3228334C>TCA408084955SLC4A11c.2483G>A (p.Cys828Tyr)
c.2414G>A (p.Cys805Tyr)
c.2282G>A (p.Cys761Tyr)
c.2369G>A (p.Cys790Tyr)
c.2531G>A (p.Cys844Tyr)
c.2612G>A (p.Cys871Tyr)
c.*631G>A (n.*631G>A)
c.2852G>A (p.Cys951Tyr)
c.2426G>A (p.Cys809Tyr)
c.2450G>A (p.Cys817Tyr)
n.2581G>A
c.2846G>A (p.Cys949Tyr)
n.3026G>A
n.3006G>A
c.2498G>A (p.Cys833Tyr)
n.2991G>A
20g.3228335A>CCA408084958SLC4A11c.2482T>G (p.Cys828Gly)
c.2413T>G (p.Cys805Gly)
c.2281T>G (p.Cys761Gly)
c.2368T>G (p.Cys790Gly)
c.2530T>G (p.Cys844Gly)
c.2611T>G (p.Cys871Gly)
c.*630T>G (n.*630T>G)
c.2851T>G (p.Cys951Gly)
c.2425T>G (p.Cys809Gly)
c.2449T>G (p.Cys817Gly)
n.2580T>G
c.2845T>G (p.Cys949Gly)
n.3025T>G
n.3005T>G
c.2497T>G (p.Cys833Gly)
n.2990T>G
20g.3228335A>GCA408084963SLC4A11c.2482T>C (p.Cys828Arg)
c.2413T>C (p.Cys805Arg)
c.2281T>C (p.Cys761Arg)
c.2368T>C (p.Cys790Arg)
c.2530T>C (p.Cys844Arg)
c.2611T>C (p.Cys871Arg)
c.*630T>C (n.*630T>C)
c.2851T>C (p.Cys951Arg)
c.2425T>C (p.Cys809Arg)
c.2449T>C (p.Cys817Arg)
n.2580T>C
c.2845T>C (p.Cys949Arg)
n.3025T>C
n.3005T>C
c.2497T>C (p.Cys833Arg)
n.2990T>C
 gnomAD v4
20g.3228335A>TCA408084961SLC4A11c.2482T>A (p.Cys828Ser)
c.2413T>A (p.Cys805Ser)
c.2281T>A (p.Cys761Ser)
c.2368T>A (p.Cys790Ser)
c.2530T>A (p.Cys844Ser)
c.2611T>A (p.Cys871Ser)
c.*630T>A (n.*630T>A)
c.2851T>A (p.Cys951Ser)
c.2425T>A (p.Cys809Ser)
c.2449T>A (p.Cys817Ser)
n.2580T>A
c.2845T>A (p.Cys949Ser)
n.3025T>A
n.3005T>A
c.2497T>A (p.Cys833Ser)
n.2990T>A
20g.3228335_3228338delinsACAGCA2346474945SLC4A11c.2479_2482delinsCTGT (p.Leu827=)
c.2410_2413delinsCTGT (p.Leu804=)
c.2278_2281delinsCTGT (p.Leu760=)
c.2365_2368delinsCTGT (p.Leu789=)
c.2527_2530delinsCTGT (p.Leu843=)
c.2608_2611delinsCTGT (p.Leu870=)
c.*627_*630delinsCTGT (n.*627_*630delinsCTGT)
c.2848_2851delinsCTGT (p.Leu950=)
c.2422_2425delinsCTGT (p.Leu808=)
c.2446_2449delinsCTGT (p.Leu816=)
n.2577_2580delinsCTGT
c.2842_2845delinsCTGT (p.Leu948=)
n.3022_3025delinsCTGT
n.3002_3005delinsCTGT
c.2494_2497delinsCTGT (p.Leu832=)
n.2987_2990delinsCTGT
20g.3228336C>ACA509557646SLC4A11c.2481G>T (p.Leu827=)
c.2412G>T (p.Leu804=)
c.2280G>T (p.Leu760=)
c.2367G>T (p.Leu789=)
c.2529G>T (p.Leu843=)
c.2610G>T (p.Leu870=)
c.*629G>T (n.*629G>T)
c.2850G>T (p.Leu950=)
c.2424G>T (p.Leu808=)
c.2448G>T (p.Leu816=)
n.2579G>T
c.2844G>T (p.Leu948=)
n.3024G>T
n.3004G>T
c.2496G>T (p.Leu832=)
n.2989G>T
20g.3228336C=CA2346474946SLC4A11c.2481G= (p.Leu827=)
c.2412G= (p.Leu804=)
c.2280G= (p.Leu760=)
c.2367G= (p.Leu789=)
c.2529G= (p.Leu843=)
c.2610G= (p.Leu870=)
c.*629G= (n.*629G=)
c.2850G= (p.Leu950=)
c.2424G= (p.Leu808=)
c.2448G= (p.Leu816=)
n.2579G=
c.2844G= (p.Leu948=)
n.3024G=
n.3004G=
c.2496G= (p.Leu832=)
n.2989G=
20g.3228336C>GCA509557647SLC4A11c.2481G>C (p.Leu827=)
c.2412G>C (p.Leu804=)
c.2280G>C (p.Leu760=)
c.2367G>C (p.Leu789=)
c.2529G>C (p.Leu843=)
c.2610G>C (p.Leu870=)
c.*629G>C (n.*629G>C)
c.2850G>C (p.Leu950=)
c.2424G>C (p.Leu808=)
c.2448G>C (p.Leu816=)
n.2579G>C
c.2844G>C (p.Leu948=)
n.3024G>C
n.3004G>C
c.2496G>C (p.Leu832=)
n.2989G>C
20g.3228336C>TCA509557648SLC4A11c.2481G>A (p.Leu827=)
c.2412G>A (p.Leu804=)
c.2280G>A (p.Leu760=)
c.2367G>A (p.Leu789=)
c.2529G>A (p.Leu843=)
c.2610G>A (p.Leu870=)
c.*629G>A (n.*629G>A)
c.2850G>A (p.Leu950=)
c.2424G>A (p.Leu808=)
c.2448G>A (p.Leu816=)
n.2579G>A
c.2844G>A (p.Leu948=)
n.3024G>A
n.3004G>A
c.2496G>A (p.Leu832=)
n.2989G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.3228346_3228348delCA634329256SLC4A11c.2479_2481del (p.Leu827del)
c.2410_2412del (p.Leu804del)
c.2278_2280del (p.Leu760del)
c.2365_2367del (p.Leu789del)
c.2527_2529del (p.Leu843del)
c.2608_2610del (p.Leu870del)
c.*627_*629del (n.*627_*629del)
c.2848_2850del (p.Leu950del)
c.2422_2424del (p.Leu808del)
c.2446_2448del (p.Leu816del)
n.2577_2579del
c.2842_2844del (p.Leu948del)
n.3022_3024del
n.3002_3004del
c.2494_2496del (p.Leu832del)
n.2987_2989del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228337A=CA2346474947SLC4A11c.2480T= (p.Leu827=)
c.2411T= (p.Leu804=)
c.2279T= (p.Leu760=)
c.2366T= (p.Leu789=)
c.2528T= (p.Leu843=)
c.2609T= (p.Leu870=)
c.*628T= (n.*628T=)
c.2849T= (p.Leu950=)
c.2423T= (p.Leu808=)
c.2447T= (p.Leu816=)
n.2578T=
c.2843T= (p.Leu948=)
n.3023T=
n.3003T=
c.2495T= (p.Leu832=)
n.2988T=
20g.3228337A>CCA408084966SLC4A11c.2480T>G (p.Leu827Arg)
c.2411T>G (p.Leu804Arg)
c.2279T>G (p.Leu760Arg)
c.2366T>G (p.Leu789Arg)
c.2528T>G (p.Leu843Arg)
c.2609T>G (p.Leu870Arg)
c.*628T>G (n.*628T>G)
c.2849T>G (p.Leu950Arg)
c.2423T>G (p.Leu808Arg)
c.2447T>G (p.Leu816Arg)
n.2578T>G
c.2843T>G (p.Leu948Arg)
n.3023T>G
n.3003T>G
c.2495T>G (p.Leu832Arg)
n.2988T>G
20g.3228337A>GCA114920SLC4A11c.2480T>C (p.Leu827Pro)
c.2411T>C (p.Leu804Pro)
c.2279T>C (p.Leu760Pro)
c.2366T>C (p.Leu789Pro)
c.2528T>C (p.Leu843Pro)
c.2609T>C (p.Leu870Pro)
c.*628T>C (n.*628T>C)
c.2849T>C (p.Leu950Pro)
c.2423T>C (p.Leu808Pro)
c.2447T>C (p.Leu816Pro)
n.2578T>C
c.2843T>C (p.Leu948Pro)
n.3023T>C
n.3003T>C
c.2495T>C (p.Leu832Pro)
n.2988T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228337A>TCA408084969SLC4A11c.2480T>A (p.Leu827Gln)
c.2411T>A (p.Leu804Gln)
c.2279T>A (p.Leu760Gln)
c.2366T>A (p.Leu789Gln)
c.2528T>A (p.Leu843Gln)
c.2609T>A (p.Leu870Gln)
c.*628T>A (n.*628T>A)
c.2849T>A (p.Leu950Gln)
c.2423T>A (p.Leu808Gln)
c.2447T>A (p.Leu816Gln)
n.2578T>A
c.2843T>A (p.Leu948Gln)
n.3023T>A
n.3003T>A
c.2495T>A (p.Leu832Gln)
n.2988T>A
20g.3228338G>ACA9741452SLC4A11c.2479C>T (p.Leu827=)
c.2410C>T (p.Leu804=)
c.2278C>T (p.Leu760=)
c.2365C>T (p.Leu789=)
c.2527C>T (p.Leu843=)
c.2608C>T (p.Leu870=)
c.*627C>T (n.*627C>T)
c.2848C>T (p.Leu950=)
c.2422C>T (p.Leu808=)
c.2446C>T (p.Leu816=)
n.2577C>T
c.2842C>T (p.Leu948=)
n.3022C>T
n.3002C>T
c.2494C>T (p.Leu832=)
n.2987C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228338G>CCA408084973SLC4A11c.2479C>G (p.Leu827Val)
c.2410C>G (p.Leu804Val)
c.2278C>G (p.Leu760Val)
c.2365C>G (p.Leu789Val)
c.2527C>G (p.Leu843Val)
c.2608C>G (p.Leu870Val)
c.*627C>G (n.*627C>G)
c.2848C>G (p.Leu950Val)
c.2422C>G (p.Leu808Val)
c.2446C>G (p.Leu816Val)
n.2577C>G
c.2842C>G (p.Leu948Val)
n.3022C>G
n.3002C>G
c.2494C>G (p.Leu832Val)
n.2987C>G
20g.3228338G=CA2346474948SLC4A11c.2479C= (p.Leu827=)
c.2410C= (p.Leu804=)
c.2278C= (p.Leu760=)
c.2365C= (p.Leu789=)
c.2527C= (p.Leu843=)
c.2608C= (p.Leu870=)
c.*627C= (n.*627C=)
c.2848C= (p.Leu950=)
c.2422C= (p.Leu808=)
c.2446C= (p.Leu816=)
n.2577C=
c.2842C= (p.Leu948=)
n.3022C=
n.3002C=
c.2494C= (p.Leu832=)
n.2987C=
20g.3228338G>TCA408084976SLC4A11c.2479C>A (p.Leu827Met)
c.2410C>A (p.Leu804Met)
c.2278C>A (p.Leu760Met)
c.2365C>A (p.Leu789Met)
c.2527C>A (p.Leu843Met)
c.2608C>A (p.Leu870Met)
c.*627C>A (n.*627C>A)
c.2848C>A (p.Leu950Met)
c.2422C>A (p.Leu808Met)
c.2446C>A (p.Leu816Met)
n.2577C>A
c.2842C>A (p.Leu948Met)
n.3022C>A
n.3002C>A
c.2494C>A (p.Leu832Met)
n.2987C>A
20g.3228339C>ACA509557649SLC4A11c.2478G>T (p.Leu826=)
c.2409G>T (p.Leu803=)
c.2277G>T (p.Leu759=)
c.2364G>T (p.Leu788=)
c.2526G>T (p.Leu842=)
c.2607G>T (p.Leu869=)
c.*626G>T (n.*626G>T)
c.2847G>T (p.Leu949=)
c.2421G>T (p.Leu807=)
c.2445G>T (p.Leu815=)
n.2576G>T
c.2841G>T (p.Leu947=)
n.3021G>T
n.3001G>T
c.2493G>T (p.Leu831=)
n.2986G>T
 gnomAD v4
20g.3228339C>GCA509557650SLC4A11c.2478G>C (p.Leu826=)
c.2409G>C (p.Leu803=)
c.2277G>C (p.Leu759=)
c.2364G>C (p.Leu788=)
c.2526G>C (p.Leu842=)
c.2607G>C (p.Leu869=)
c.*626G>C (n.*626G>C)
c.2847G>C (p.Leu949=)
c.2421G>C (p.Leu807=)
c.2445G>C (p.Leu815=)
n.2576G>C
c.2841G>C (p.Leu947=)
n.3021G>C
n.3001G>C
c.2493G>C (p.Leu831=)
n.2986G>C
20g.3228339C>TCA509557651SLC4A11c.2478G>A (p.Leu826=)
c.2409G>A (p.Leu803=)
c.2277G>A (p.Leu759=)
c.2364G>A (p.Leu788=)
c.2526G>A (p.Leu842=)
c.2607G>A (p.Leu869=)
c.*626G>A (n.*626G>A)
c.2847G>A (p.Leu949=)
c.2421G>A (p.Leu807=)
c.2445G>A (p.Leu815=)
n.2576G>A
c.2841G>A (p.Leu947=)
n.3021G>A
n.3001G>A
c.2493G>A (p.Leu831=)
n.2986G>A
 ClinVar
20g.3228340A>CCA408084979SLC4A11c.2477T>G (p.Leu826Arg)
c.2408T>G (p.Leu803Arg)
c.2276T>G (p.Leu759Arg)
c.2363T>G (p.Leu788Arg)
c.2525T>G (p.Leu842Arg)
c.2606T>G (p.Leu869Arg)
c.*625T>G (n.*625T>G)
c.2846T>G (p.Leu949Arg)
c.2420T>G (p.Leu807Arg)
c.2444T>G (p.Leu815Arg)
n.2575T>G
c.2840T>G (p.Leu947Arg)
n.3020T>G
n.3000T>G
c.2492T>G (p.Leu831Arg)
n.2985T>G
20g.3228340A>GCA408084981SLC4A11c.2477T>C (p.Leu826Pro)
c.2408T>C (p.Leu803Pro)
c.2276T>C (p.Leu759Pro)
c.2363T>C (p.Leu788Pro)
c.2525T>C (p.Leu842Pro)
c.2606T>C (p.Leu869Pro)
c.*625T>C (n.*625T>C)
c.2846T>C (p.Leu949Pro)
c.2420T>C (p.Leu807Pro)
c.2444T>C (p.Leu815Pro)
n.2575T>C
c.2840T>C (p.Leu947Pro)
n.3020T>C
n.3000T>C
c.2492T>C (p.Leu831Pro)
n.2985T>C
20g.3228340A>TCA408084983SLC4A11c.2477T>A (p.Leu826Gln)
c.2408T>A (p.Leu803Gln)
c.2276T>A (p.Leu759Gln)
c.2363T>A (p.Leu788Gln)
c.2525T>A (p.Leu842Gln)
c.2606T>A (p.Leu869Gln)
c.*625T>A (n.*625T>A)
c.2846T>A (p.Leu949Gln)
c.2420T>A (p.Leu807Gln)
c.2444T>A (p.Leu815Gln)
n.2575T>A
c.2840T>A (p.Leu947Gln)
n.3020T>A
n.3000T>A
c.2492T>A (p.Leu831Gln)
n.2985T>A
20g.3228341G>ACA509557652SLC4A11c.2476C>T (p.Leu826=)
c.2407C>T (p.Leu803=)
c.2275C>T (p.Leu759=)
c.2362C>T (p.Leu788=)
c.2524C>T (p.Leu842=)
c.2605C>T (p.Leu869=)
c.*624C>T (n.*624C>T)
c.2845C>T (p.Leu949=)
c.2419C>T (p.Leu807=)
c.2443C>T (p.Leu815=)
n.2574C>T
c.2839C>T (p.Leu947=)
n.3019C>T
n.2999C>T
c.2491C>T (p.Leu831=)
n.2984C>T
 ClinVar dbSNP
20g.3228341G>CCA408084986SLC4A11c.2476C>G (p.Leu826Val)
c.2407C>G (p.Leu803Val)
c.2275C>G (p.Leu759Val)
c.2362C>G (p.Leu788Val)
c.2524C>G (p.Leu842Val)
c.2605C>G (p.Leu869Val)
c.*624C>G (n.*624C>G)
c.2845C>G (p.Leu949Val)
c.2419C>G (p.Leu807Val)
c.2443C>G (p.Leu815Val)
n.2574C>G
c.2839C>G (p.Leu947Val)
n.3019C>G
n.2999C>G
c.2491C>G (p.Leu831Val)
n.2984C>G
20g.3228341G>TCA408084987SLC4A11c.2476C>A (p.Leu826Met)
c.2407C>A (p.Leu803Met)
c.2275C>A (p.Leu759Met)
c.2362C>A (p.Leu788Met)
c.2524C>A (p.Leu842Met)
c.2605C>A (p.Leu869Met)
c.*624C>A (n.*624C>A)
c.2845C>A (p.Leu949Met)
c.2419C>A (p.Leu807Met)
c.2443C>A (p.Leu815Met)
n.2574C>A
c.2839C>A (p.Leu947Met)
n.3019C>A
n.2999C>A
c.2491C>A (p.Leu831Met)
n.2984C>A
20g.3228342C>ACA509557653SLC4A11c.2475G>T (p.Leu825=)
c.2406G>T (p.Leu802=)
c.2274G>T (p.Leu758=)
c.2361G>T (p.Leu787=)
c.2523G>T (p.Leu841=)
c.2604G>T (p.Leu868=)
c.*623G>T (n.*623G>T)
c.2844G>T (p.Leu948=)
c.2418G>T (p.Leu806=)
c.2442G>T (p.Leu814=)
n.2573G>T
c.2838G>T (p.Leu946=)
n.3018G>T
n.2998G>T
c.2490G>T (p.Leu830=)
n.2983G>T
20g.3228342C>GCA509557654SLC4A11c.2475G>C (p.Leu825=)
c.2406G>C (p.Leu802=)
c.2274G>C (p.Leu758=)
c.2361G>C (p.Leu787=)
c.2523G>C (p.Leu841=)
c.2604G>C (p.Leu868=)
c.*623G>C (n.*623G>C)
c.2844G>C (p.Leu948=)
c.2418G>C (p.Leu806=)
c.2442G>C (p.Leu814=)
n.2573G>C
c.2838G>C (p.Leu946=)
n.3018G>C
n.2998G>C
c.2490G>C (p.Leu830=)
n.2983G>C
20g.3228342C>TCA509557655SLC4A11c.2475G>A (p.Leu825=)
c.2406G>A (p.Leu802=)
c.2274G>A (p.Leu758=)
c.2361G>A (p.Leu787=)
c.2523G>A (p.Leu841=)
c.2604G>A (p.Leu868=)
c.*623G>A (n.*623G>A)
c.2844G>A (p.Leu948=)
c.2418G>A (p.Leu806=)
c.2442G>A (p.Leu814=)
n.2573G>A
c.2838G>A (p.Leu946=)
n.3018G>A
n.2998G>A
c.2490G>A (p.Leu830=)
n.2983G>A
20g.3228343A>CCA408084989SLC4A11c.2474T>G (p.Leu825Arg)
c.2405T>G (p.Leu802Arg)
c.2273T>G (p.Leu758Arg)
c.2360T>G (p.Leu787Arg)
c.2522T>G (p.Leu841Arg)
c.2603T>G (p.Leu868Arg)
c.*622T>G (n.*622T>G)
c.2843T>G (p.Leu948Arg)
c.2417T>G (p.Leu806Arg)
c.2441T>G (p.Leu814Arg)
n.2572T>G
c.2837T>G (p.Leu946Arg)
n.3017T>G
n.2997T>G
c.2489T>G (p.Leu830Arg)
n.2982T>G
20g.3228343A>GCA408084992SLC4A11c.2474T>C (p.Leu825Pro)
c.2405T>C (p.Leu802Pro)
c.2273T>C (p.Leu758Pro)
c.2360T>C (p.Leu787Pro)
c.2522T>C (p.Leu841Pro)
c.2603T>C (p.Leu868Pro)
c.*622T>C (n.*622T>C)
c.2843T>C (p.Leu948Pro)
c.2417T>C (p.Leu806Pro)
c.2441T>C (p.Leu814Pro)
n.2572T>C
c.2837T>C (p.Leu946Pro)
n.3017T>C
n.2997T>C
c.2489T>C (p.Leu830Pro)
n.2982T>C
20g.3228343A>TCA408084991SLC4A11c.2474T>A (p.Leu825Gln)
c.2405T>A (p.Leu802Gln)
c.2273T>A (p.Leu758Gln)
c.2360T>A (p.Leu787Gln)
c.2522T>A (p.Leu841Gln)
c.2603T>A (p.Leu868Gln)
c.*622T>A (n.*622T>A)
c.2843T>A (p.Leu948Gln)
c.2417T>A (p.Leu806Gln)
c.2441T>A (p.Leu814Gln)
n.2572T>A
c.2837T>A (p.Leu946Gln)
n.3017T>A
n.2997T>A
c.2489T>A (p.Leu830Gln)
n.2982T>A
20g.3228344G>ACA509557656SLC4A11c.2473C>T (p.Leu825=)
c.2404C>T (p.Leu802=)
c.2272C>T (p.Leu758=)
c.2359C>T (p.Leu787=)
c.2521C>T (p.Leu841=)
c.2602C>T (p.Leu868=)
c.*621C>T (n.*621C>T)
c.2842C>T (p.Leu948=)
c.2416C>T (p.Leu806=)
c.2440C>T (p.Leu814=)
n.2571C>T
c.2836C>T (p.Leu946=)
n.3016C>T
n.2996C>T
c.2488C>T (p.Leu830=)
n.2981C>T
 gnomAD v4
20g.3228344G>CCA408084996SLC4A11c.2473C>G (p.Leu825Val)
c.2404C>G (p.Leu802Val)
c.2272C>G (p.Leu758Val)
c.2359C>G (p.Leu787Val)
c.2521C>G (p.Leu841Val)
c.2602C>G (p.Leu868Val)
c.*621C>G (n.*621C>G)
c.2842C>G (p.Leu948Val)
c.2416C>G (p.Leu806Val)
c.2440C>G (p.Leu814Val)
n.2571C>G
c.2836C>G (p.Leu946Val)
n.3016C>G
n.2996C>G
c.2488C>G (p.Leu830Val)
n.2981C>G
20g.3228344G>TCA408084997SLC4A11c.2473C>A (p.Leu825Met)
c.2404C>A (p.Leu802Met)
c.2272C>A (p.Leu758Met)
c.2359C>A (p.Leu787Met)
c.2521C>A (p.Leu841Met)
c.2602C>A (p.Leu868Met)
c.*621C>A (n.*621C>A)
c.2842C>A (p.Leu948Met)
c.2416C>A (p.Leu806Met)
c.2440C>A (p.Leu814Met)
n.2571C>A
c.2836C>A (p.Leu946Met)
n.3016C>A
n.2996C>A
c.2488C>A (p.Leu830Met)
n.2981C>A
20g.3228345C>ACA509557658SLC4A11c.2472G>T (p.Leu824=)
c.2403G>T (p.Leu801=)
c.2271G>T (p.Leu757=)
c.2358G>T (p.Leu786=)
c.2520G>T (p.Leu840=)
c.2601G>T (p.Leu867=)
c.*620G>T (n.*620G>T)
c.2841G>T (p.Leu947=)
c.2415G>T (p.Leu805=)
c.2439G>T (p.Leu813=)
n.2570G>T
c.2835G>T (p.Leu945=)
n.3015G>T
n.2995G>T
c.2487G>T (p.Leu829=)
n.2980G>T
20g.3228345C=CA2346474949SLC4A11c.2472G= (p.Leu824=)
c.2403G= (p.Leu801=)
c.2271G= (p.Leu757=)
c.2358G= (p.Leu786=)
c.2520G= (p.Leu840=)
c.2601G= (p.Leu867=)
c.*620G= (n.*620G=)
c.2841G= (p.Leu947=)
c.2415G= (p.Leu805=)
c.2439G= (p.Leu813=)
n.2570G=
c.2835G= (p.Leu945=)
n.3015G=
n.2995G=
c.2487G= (p.Leu829=)
n.2980G=
20g.3228345C>GCA509557659SLC4A11c.2472G>C (p.Leu824=)
c.2403G>C (p.Leu801=)
c.2271G>C (p.Leu757=)
c.2358G>C (p.Leu786=)
c.2520G>C (p.Leu840=)
c.2601G>C (p.Leu867=)
c.*620G>C (n.*620G>C)
c.2841G>C (p.Leu947=)
c.2415G>C (p.Leu805=)
c.2439G>C (p.Leu813=)
n.2570G>C
c.2835G>C (p.Leu945=)
n.3015G>C
n.2995G>C
c.2487G>C (p.Leu829=)
n.2980G>C
 gnomAD v4
20g.3228345C>TCA509557657SLC4A11c.2472G>A (p.Leu824=)
c.2403G>A (p.Leu801=)
c.2271G>A (p.Leu757=)
c.2358G>A (p.Leu786=)
c.2520G>A (p.Leu840=)
c.2601G>A (p.Leu867=)
c.*620G>A (n.*620G>A)
c.2841G>A (p.Leu947=)
c.2415G>A (p.Leu805=)
c.2439G>A (p.Leu813=)
n.2570G>A
c.2835G>A (p.Leu945=)
n.3015G>A
n.2995G>A
c.2487G>A (p.Leu829=)
n.2980G>A
 ClinVar dbSNP
20g.3228346A=CA2346474950SLC4A11c.2471T= (p.Leu824=)
c.2402T= (p.Leu801=)
c.2270T= (p.Leu757=)
c.2357T= (p.Leu786=)
c.2519T= (p.Leu840=)
c.2600T= (p.Leu867=)
c.*619T= (n.*619T=)
c.2840T= (p.Leu947=)
c.2414T= (p.Leu805=)
c.2438T= (p.Leu813=)
n.2569T=
c.2834T= (p.Leu945=)
n.3014T=
n.2994T=
c.2486T= (p.Leu829=)
n.2979T=
20g.3228346A>CCA408085000SLC4A11c.2471T>G (p.Leu824Arg)
c.2402T>G (p.Leu801Arg)
c.2270T>G (p.Leu757Arg)
c.2357T>G (p.Leu786Arg)
c.2519T>G (p.Leu840Arg)
c.2600T>G (p.Leu867Arg)
c.*619T>G (n.*619T>G)
c.2840T>G (p.Leu947Arg)
c.2414T>G (p.Leu805Arg)
c.2438T>G (p.Leu813Arg)
n.2569T>G
c.2834T>G (p.Leu945Arg)
n.3014T>G
n.2994T>G
c.2486T>G (p.Leu829Arg)
n.2979T>G
20g.3228346A>GCA408085002SLC4A11c.2471T>C (p.Leu824Pro)
c.2402T>C (p.Leu801Pro)
c.2270T>C (p.Leu757Pro)
c.2357T>C (p.Leu786Pro)
c.2519T>C (p.Leu840Pro)
c.2600T>C (p.Leu867Pro)
c.*619T>C (n.*619T>C)
c.2840T>C (p.Leu947Pro)
c.2414T>C (p.Leu805Pro)
c.2438T>C (p.Leu813Pro)
n.2569T>C
c.2834T>C (p.Leu945Pro)
n.3014T>C
n.2994T>C
c.2486T>C (p.Leu829Pro)
n.2979T>C
 dbSNP gnomAD v2
20g.3228346A>TCA408085004SLC4A11c.2471T>A (p.Leu824Gln)
c.2402T>A (p.Leu801Gln)
c.2270T>A (p.Leu757Gln)
c.2357T>A (p.Leu786Gln)
c.2519T>A (p.Leu840Gln)
c.2600T>A (p.Leu867Gln)
c.*619T>A (n.*619T>A)
c.2840T>A (p.Leu947Gln)
c.2414T>A (p.Leu805Gln)
c.2438T>A (p.Leu813Gln)
n.2569T>A
c.2834T>A (p.Leu945Gln)
n.3014T>A
n.2994T>A
c.2486T>A (p.Leu829Gln)
n.2979T>A
20g.3228347G>ACA9741453SLC4A11c.2470C>T (p.Leu824=)
c.2401C>T (p.Leu801=)
c.2269C>T (p.Leu757=)
c.2356C>T (p.Leu786=)
c.2518C>T (p.Leu840=)
c.2599C>T (p.Leu867=)
c.*618C>T (n.*618C>T)
c.2839C>T (p.Leu947=)
c.2413C>T (p.Leu805=)
c.2437C>T (p.Leu813=)
n.2568C>T
c.2833C>T (p.Leu945=)
n.3013C>T
n.2993C>T
c.2485C>T (p.Leu829=)
n.2978C>T
 dbSNP ExAC
20g.3228347G>CCA408085008SLC4A11c.2470C>G (p.Leu824Val)
c.2401C>G (p.Leu801Val)
c.2269C>G (p.Leu757Val)
c.2356C>G (p.Leu786Val)
c.2518C>G (p.Leu840Val)
c.2599C>G (p.Leu867Val)
c.*618C>G (n.*618C>G)
c.2839C>G (p.Leu947Val)
c.2413C>G (p.Leu805Val)
c.2437C>G (p.Leu813Val)
n.2568C>G
c.2833C>G (p.Leu945Val)
n.3013C>G
n.2993C>G
c.2485C>G (p.Leu829Val)
n.2978C>G
20g.3228347G=CA2346474951SLC4A11c.2470C= (p.Leu824=)
c.2401C= (p.Leu801=)
c.2269C= (p.Leu757=)
c.2356C= (p.Leu786=)
c.2518C= (p.Leu840=)
c.2599C= (p.Leu867=)
c.*618C= (n.*618C=)
c.2839C= (p.Leu947=)
c.2413C= (p.Leu805=)
c.2437C= (p.Leu813=)
n.2568C=
c.2833C= (p.Leu945=)
n.3013C=
n.2993C=
c.2485C= (p.Leu829=)
n.2978C=
20g.3228347G>TCA408085010SLC4A11c.2470C>A (p.Leu824Met)
c.2401C>A (p.Leu801Met)
c.2269C>A (p.Leu757Met)
c.2356C>A (p.Leu786Met)
c.2518C>A (p.Leu840Met)
c.2599C>A (p.Leu867Met)
c.*618C>A (n.*618C>A)
c.2839C>A (p.Leu947Met)
c.2413C>A (p.Leu805Met)
c.2437C>A (p.Leu813Met)
n.2568C>A
c.2833C>A (p.Leu945Met)
n.3013C>A
n.2993C>A
c.2485C>A (p.Leu829Met)
n.2978C>A
20g.3228348C>ACA408085013SLC4A11c.2469G>T (p.Gln823His)
c.2400G>T (p.Gln800His)
c.2268G>T (p.Gln756His)
c.2355G>T (p.Gln785His)
c.2517G>T (p.Gln839His)
c.2598G>T (p.Gln866His)
c.*617G>T (n.*617G>T)
c.2838G>T (p.Gln946His)
c.2412G>T (p.Gln804His)
c.2436G>T (p.Gln812His)
n.2567G>T
c.2832G>T (p.Gln944His)
n.3012G>T
n.2992G>T
c.2484G>T (p.Gln828His)
n.2977G>T
 gnomAD v4
20g.3228348C>GCA408085015SLC4A11c.2469G>C (p.Gln823His)
c.2400G>C (p.Gln800His)
c.2268G>C (p.Gln756His)
c.2355G>C (p.Gln785His)
c.2517G>C (p.Gln839His)
c.2598G>C (p.Gln866His)
c.*617G>C (n.*617G>C)
c.2838G>C (p.Gln946His)
c.2412G>C (p.Gln804His)
c.2436G>C (p.Gln812His)
n.2567G>C
c.2832G>C (p.Gln944His)
n.3012G>C
n.2992G>C
c.2484G>C (p.Gln828His)
n.2977G>C
20g.3228348C>TCA509557660SLC4A11c.2469G>A (p.Gln823=)
c.2400G>A (p.Gln800=)
c.2268G>A (p.Gln756=)
c.2355G>A (p.Gln785=)
c.2517G>A (p.Gln839=)
c.2598G>A (p.Gln866=)
c.*617G>A (n.*617G>A)
c.2838G>A (p.Gln946=)
c.2412G>A (p.Gln804=)
c.2436G>A (p.Gln812=)
n.2567G>A
c.2832G>A (p.Gln944=)
n.3012G>A
n.2992G>A
c.2484G>A (p.Gln828=)
n.2977G>A
20g.3228349T>ACA408085018SLC4A11c.2468A>T (p.Gln823Leu)
c.2399A>T (p.Gln800Leu)
c.2267A>T (p.Gln756Leu)
c.2354A>T (p.Gln785Leu)
c.2516A>T (p.Gln839Leu)
c.2597A>T (p.Gln866Leu)
c.*616A>T (n.*616A>T)
c.2837A>T (p.Gln946Leu)
c.2411A>T (p.Gln804Leu)
c.2435A>T (p.Gln812Leu)
n.2566A>T
c.2831A>T (p.Gln944Leu)
n.3011A>T
n.2991A>T
c.2483A>T (p.Gln828Leu)
n.2976A>T
20g.3228349T>CCA408085020SLC4A11c.2468A>G (p.Gln823Arg)
c.2399A>G (p.Gln800Arg)
c.2267A>G (p.Gln756Arg)
c.2354A>G (p.Gln785Arg)
c.2516A>G (p.Gln839Arg)
c.2597A>G (p.Gln866Arg)
c.*616A>G (n.*616A>G)
c.2837A>G (p.Gln946Arg)
c.2411A>G (p.Gln804Arg)
c.2435A>G (p.Gln812Arg)
n.2566A>G
c.2831A>G (p.Gln944Arg)
n.3011A>G
n.2991A>G
c.2483A>G (p.Gln828Arg)
n.2976A>G
20g.3228349T>GCA408085021SLC4A11c.2468A>C (p.Gln823Pro)
c.2399A>C (p.Gln800Pro)
c.2267A>C (p.Gln756Pro)
c.2354A>C (p.Gln785Pro)
c.2516A>C (p.Gln839Pro)
c.2597A>C (p.Gln866Pro)
c.*616A>C (n.*616A>C)
c.2837A>C (p.Gln946Pro)
c.2411A>C (p.Gln804Pro)
c.2435A>C (p.Gln812Pro)
n.2566A>C
c.2831A>C (p.Gln944Pro)
n.3011A>C
n.2991A>C
c.2483A>C (p.Gln828Pro)
n.2976A>C
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=

Number of alleles fetched