WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3228335_3228338delinsACAG | CA2346474945 | SLC4A11 | c.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 | |
| 20 | g.3228346_3228348del | CA634329256 | SLC4A11 | c.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 |
| 20 | g.3228337A= | CA2346474947 | SLC4A11 | c.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= | |
| 20 | g.3228337A>C | CA408084966 | SLC4A11 | c.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 | |
| 20 | g.3228337A>G | CA114920 | SLC4A11 | c.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 |
| 20 | g.3228337A>T | CA408084969 | SLC4A11 | c.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 | |
| 20 | g.3228338G>A | CA9741452 | SLC4A11 | c.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 |
| 20 | g.3228338G>C | CA408084973 | SLC4A11 | c.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 | |
| 20 | g.3228338G= | CA2346474948 | SLC4A11 | c.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= | |
| 20 | g.3228338G>T | CA408084976 | SLC4A11 | c.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 | |
| 20 | g.3228339C>A | CA509557649 | SLC4A11 | c.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 |
| 20 | g.3228339C>G | CA509557650 | SLC4A11 | c.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 | |
| 20 | g.3228339C>T | CA509557651 | SLC4A11 | c.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 |
| 20 | g.3228340A>C | CA408084979 | SLC4A11 | c.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 | |
| 20 | g.3228340A>G | CA408084981 | SLC4A11 | c.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 | |
| 20 | g.3228340A>T | CA408084983 | SLC4A11 | c.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 | |
| 20 | g.3228341G>A | CA509557652 | SLC4A11 | c.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 |
| 20 | g.3228341G>C | CA408084986 | SLC4A11 | c.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 | |
| 20 | g.3228341G>T | CA408084987 | SLC4A11 | c.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 | |
| 20 | g.3228342C>A | CA509557653 | SLC4A11 | c.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 | |
| 20 | g.3228342C>G | CA509557654 | SLC4A11 | c.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 | |
| 20 | g.3228342C>T | CA509557655 | SLC4A11 | c.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 | |
| 20 | g.3228343A>C | CA408084989 | SLC4A11 | c.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 | |
| 20 | g.3228343A>G | CA408084992 | SLC4A11 | c.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 | |
| 20 | g.3228343A>T | CA408084991 | SLC4A11 | c.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 | |
| 20 | g.3228344G>A | CA509557656 | SLC4A11 | c.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 |
| 20 | g.3228344G>C | CA408084996 | SLC4A11 | c.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 | |
| 20 | g.3228344G>T | CA408084997 | SLC4A11 | c.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 | |
| 20 | g.3228345C>A | CA509557658 | SLC4A11 | c.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 | |
| 20 | g.3228345C= | CA2346474949 | SLC4A11 | c.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= | |
| 20 | g.3228345C>G | CA509557659 | SLC4A11 | c.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 |
| 20 | g.3228345C>T | CA509557657 | SLC4A11 | c.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 |
| 20 | g.3228346A= | CA2346474950 | SLC4A11 | c.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= | |
| 20 | g.3228346A>C | CA408085000 | SLC4A11 | c.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 | |
| 20 | g.3228346A>G | CA408085002 | SLC4A11 | c.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 |
| 20 | g.3228346A>T | CA408085004 | SLC4A11 | c.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 | |
| 20 | g.3228347G>A | CA9741453 | SLC4A11 | c.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 |
| 20 | g.3228347G>C | CA408085008 | SLC4A11 | c.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 | |
| 20 | g.3228347G= | CA2346474951 | SLC4A11 | c.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= | |
| 20 | g.3228347G>T | CA408085010 | SLC4A11 | c.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 | |
| 20 | g.3228348C>A | CA408085013 | SLC4A11 | c.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 |
| 20 | g.3228348C>G | CA408085015 | SLC4A11 | c.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 | |
| 20 | g.3228348C>T | CA509557660 | SLC4A11 | c.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 | |
| 20 | g.3228349T>A | CA408085018 | SLC4A11 | c.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 | |
| 20 | g.3228349T>C | CA408085020 | SLC4A11 | c.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 | |
| 20 | g.3228349T>G | CA408085021 | SLC4A11 | c.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 | |
| 20 | g.3228350G>A | CA408085024 | SLC4A11 | c.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 |
| 20 | g.3228350G>C | CA408085030 | SLC4A11 | c.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 | |
| 20 | g.3228350G>T | CA408085026 | SLC4A11 | c.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 | |
| 20 | g.3228351A= | CA2346474952 | SLC4A11 | c.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= |