| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3228259C>A | CA408084557 | SLC4A11 | c.2558G>T (p.Arg853Leu) c.2489G>T (p.Arg830Leu) c.2357G>T (p.Arg786Leu) c.2444G>T (p.Arg815Leu) c.2606G>T (p.Arg869Leu) c.2687G>T (p.Arg896Leu) c.*706G>T (n.*706G>T) c.2927G>T (p.Arg976Leu) c.2501G>T (p.Arg834Leu) c.2525G>T (p.Arg842Leu) n.2656G>T c.2921G>T (p.Arg974Leu) n.3101G>T n.3081G>T c.2573G>T (p.Arg858Leu) n.3066G>T | gnomAD v4 |
| 20 | g.3228259C= | CA2346474908 | SLC4A11 | c.2558G= (p.Arg853=) c.2489G= (p.Arg830=) c.2357G= (p.Arg786=) c.2444G= (p.Arg815=) c.2606G= (p.Arg869=) c.2687G= (p.Arg896=) c.*706G= (n.*706G=) c.2927G= (p.Arg976=) c.2501G= (p.Arg834=) c.2525G= (p.Arg842=) n.2656G= c.2921G= (p.Arg974=) n.3101G= n.3081G= c.2573G= (p.Arg858=) n.3066G= | |
| 20 | g.3228259C>G | CA408084558 | SLC4A11 | c.2558G>C (p.Arg853Pro) c.2489G>C (p.Arg830Pro) c.2357G>C (p.Arg786Pro) c.2444G>C (p.Arg815Pro) c.2606G>C (p.Arg869Pro) c.2687G>C (p.Arg896Pro) c.*706G>C (n.*706G>C) c.2927G>C (p.Arg976Pro) c.2501G>C (p.Arg834Pro) c.2525G>C (p.Arg842Pro) n.2656G>C c.2921G>C (p.Arg974Pro) n.3101G>C n.3081G>C c.2573G>C (p.Arg858Pro) n.3066G>C | |
| 20 | g.3228259C>T | CA250444 | SLC4A11 | c.2558G>A (p.Arg853His) c.2489G>A (p.Arg830His) c.2357G>A (p.Arg786His) c.2444G>A (p.Arg815His) c.2606G>A (p.Arg869His) c.2687G>A (p.Arg896His) c.*706G>A (n.*706G>A) c.2927G>A (p.Arg976His) c.2501G>A (p.Arg834His) c.2525G>A (p.Arg842His) n.2656G>A c.2921G>A (p.Arg974His) n.3101G>A n.3081G>A c.2573G>A (p.Arg858His) n.3066G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.3228260G>A | CA250442 | SLC4A11 | c.2557C>T (p.Arg853Cys) c.2488C>T (p.Arg830Cys) c.2356C>T (p.Arg786Cys) c.2443C>T (p.Arg815Cys) c.2605C>T (p.Arg869Cys) c.2686C>T (p.Arg896Cys) c.*705C>T (n.*705C>T) c.2926C>T (p.Arg976Cys) c.2500C>T (p.Arg834Cys) c.2524C>T (p.Arg842Cys) n.2655C>T c.2920C>T (p.Arg974Cys) n.3100C>T n.3080C>T c.2572C>T (p.Arg858Cys) n.3065C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.3228260G>C | CA408084562 | SLC4A11 | c.2557C>G (p.Arg853Gly) c.2488C>G (p.Arg830Gly) c.2356C>G (p.Arg786Gly) c.2443C>G (p.Arg815Gly) c.2605C>G (p.Arg869Gly) c.2686C>G (p.Arg896Gly) c.*705C>G (n.*705C>G) c.2926C>G (p.Arg976Gly) c.2500C>G (p.Arg834Gly) c.2524C>G (p.Arg842Gly) n.2655C>G c.2920C>G (p.Arg974Gly) n.3100C>G n.3080C>G c.2572C>G (p.Arg858Gly) n.3065C>G | |
| 20 | g.3228260G= | CA2346474909 | SLC4A11 | c.2557C= (p.Arg853=) c.2488C= (p.Arg830=) c.2356C= (p.Arg786=) c.2443C= (p.Arg815=) c.2605C= (p.Arg869=) c.2686C= (p.Arg896=) c.*705C= (n.*705C=) c.2926C= (p.Arg976=) c.2500C= (p.Arg834=) c.2524C= (p.Arg842=) n.2655C= c.2920C= (p.Arg974=) n.3100C= n.3080C= c.2572C= (p.Arg858=) n.3065C= | |
| 20 | g.3228260G>T | CA408084564 | SLC4A11 | c.2557C>A (p.Arg853Ser) c.2488C>A (p.Arg830Ser) c.2356C>A (p.Arg786Ser) c.2443C>A (p.Arg815Ser) c.2605C>A (p.Arg869Ser) c.2686C>A (p.Arg896Ser) c.*705C>A (n.*705C>A) c.2926C>A (p.Arg976Ser) c.2500C>A (p.Arg834Ser) c.2524C>A (p.Arg842Ser) n.2655C>A c.2920C>A (p.Arg974Ser) n.3100C>A n.3080C>A c.2572C>A (p.Arg858Ser) n.3065C>A | |
| 20 | g.3228261G>A | CA509557606 | SLC4A11 | c.2556C>T (p.Ile852=) c.2487C>T (p.Ile829=) c.2355C>T (p.Ile785=) c.2442C>T (p.Ile814=) c.2604C>T (p.Ile868=) c.2685C>T (p.Ile895=) c.*704C>T (n.*704C>T) c.2925C>T (p.Ile975=) c.2499C>T (p.Ile833=) c.2523C>T (p.Ile841=) n.2654C>T c.2919C>T (p.Ile973=) n.3099C>T n.3079C>T c.2571C>T (p.Ile857=) n.3064C>T | |
| 20 | g.3228261G>C | CA408084567 | SLC4A11 | c.2556C>G (p.Ile852Met) c.2487C>G (p.Ile829Met) c.2355C>G (p.Ile785Met) c.2442C>G (p.Ile814Met) c.2604C>G (p.Ile868Met) c.2685C>G (p.Ile895Met) c.*704C>G (n.*704C>G) c.2925C>G (p.Ile975Met) c.2499C>G (p.Ile833Met) c.2523C>G (p.Ile841Met) n.2654C>G c.2919C>G (p.Ile973Met) n.3099C>G n.3079C>G c.2571C>G (p.Ile857Met) n.3064C>G | |
| 20 | g.3228261G= | CA2346474910 | SLC4A11 | c.2556C= (p.Ile852=) c.2487C= (p.Ile829=) c.2355C= (p.Ile785=) c.2442C= (p.Ile814=) c.2604C= (p.Ile868=) c.2685C= (p.Ile895=) c.*704C= (n.*704C=) c.2925C= (p.Ile975=) c.2499C= (p.Ile833=) c.2523C= (p.Ile841=) n.2654C= c.2919C= (p.Ile973=) n.3099C= n.3079C= c.2571C= (p.Ile857=) n.3064C= | |
| 20 | g.3228261G>T | CA9741436 | SLC4A11 | c.2556C>A (p.Ile852=) c.2487C>A (p.Ile829=) c.2355C>A (p.Ile785=) c.2442C>A (p.Ile814=) c.2604C>A (p.Ile868=) c.2685C>A (p.Ile895=) c.*704C>A (n.*704C>A) c.2925C>A (p.Ile975=) c.2499C>A (p.Ile833=) c.2523C>A (p.Ile841=) n.2654C>A c.2919C>A (p.Ile973=) n.3099C>A n.3079C>A c.2571C>A (p.Ile857=) n.3064C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.3228262A= | CA2346474911 | SLC4A11 | c.2555T= (p.Ile852=) c.2486T= (p.Ile829=) c.2354T= (p.Ile785=) c.2441T= (p.Ile814=) c.2603T= (p.Ile868=) c.2684T= (p.Ile895=) c.*703T= (n.*703T=) c.2924T= (p.Ile975=) c.2498T= (p.Ile833=) c.2522T= (p.Ile841=) n.2653T= c.2918T= (p.Ile973=) n.3098T= n.3078T= c.2570T= (p.Ile857=) n.3063T= | |
| 20 | g.3228262A>C | CA408084570 | SLC4A11 | c.2555T>G (p.Ile852Ser) c.2486T>G (p.Ile829Ser) c.2354T>G (p.Ile785Ser) c.2441T>G (p.Ile814Ser) c.2603T>G (p.Ile868Ser) c.2684T>G (p.Ile895Ser) c.*703T>G (n.*703T>G) c.2924T>G (p.Ile975Ser) c.2498T>G (p.Ile833Ser) c.2522T>G (p.Ile841Ser) n.2653T>G c.2918T>G (p.Ile973Ser) n.3098T>G n.3078T>G c.2570T>G (p.Ile857Ser) n.3063T>G | |
| 20 | g.3228262A>G | CA9741437 | SLC4A11 | c.2555T>C (p.Ile852Thr) c.2486T>C (p.Ile829Thr) c.2354T>C (p.Ile785Thr) c.2441T>C (p.Ile814Thr) c.2603T>C (p.Ile868Thr) c.2684T>C (p.Ile895Thr) c.*703T>C (n.*703T>C) c.2924T>C (p.Ile975Thr) c.2498T>C (p.Ile833Thr) c.2522T>C (p.Ile841Thr) n.2653T>C c.2918T>C (p.Ile973Thr) n.3098T>C n.3078T>C c.2570T>C (p.Ile857Thr) n.3063T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.3228262A>T | CA408084573 | SLC4A11 | c.2555T>A (p.Ile852Asn) c.2486T>A (p.Ile829Asn) c.2354T>A (p.Ile785Asn) c.2441T>A (p.Ile814Asn) c.2603T>A (p.Ile868Asn) c.2684T>A (p.Ile895Asn) c.*703T>A (n.*703T>A) c.2924T>A (p.Ile975Asn) c.2498T>A (p.Ile833Asn) c.2522T>A (p.Ile841Asn) n.2653T>A c.2918T>A (p.Ile973Asn) n.3098T>A n.3078T>A c.2570T>A (p.Ile857Asn) n.3063T>A | |
| 20 | g.3228263T>A | CA408084575 | SLC4A11 | c.2554A>T (p.Ile852Phe) c.2485A>T (p.Ile829Phe) c.2353A>T (p.Ile785Phe) c.2440A>T (p.Ile814Phe) c.2602A>T (p.Ile868Phe) c.2683A>T (p.Ile895Phe) c.*702A>T (n.*702A>T) c.2923A>T (p.Ile975Phe) c.2497A>T (p.Ile833Phe) c.2521A>T (p.Ile841Phe) n.2652A>T c.2917A>T (p.Ile973Phe) n.3097A>T n.3077A>T c.2569A>T (p.Ile857Phe) n.3062A>T | |
| 20 | g.3228263T>C | CA10649519 | SLC4A11 | c.2554A>G (p.Ile852Val) c.2485A>G (p.Ile829Val) c.2353A>G (p.Ile785Val) c.2440A>G (p.Ile814Val) c.2602A>G (p.Ile868Val) c.2683A>G (p.Ile895Val) c.*702A>G (n.*702A>G) c.2923A>G (p.Ile975Val) c.2497A>G (p.Ile833Val) c.2521A>G (p.Ile841Val) n.2652A>G c.2917A>G (p.Ile973Val) n.3097A>G n.3077A>G c.2569A>G (p.Ile857Val) n.3062A>G | ClinVar dbSNP |
| 20 | g.3228263T>G | CA408084576 | SLC4A11 | c.2554A>C (p.Ile852Leu) c.2485A>C (p.Ile829Leu) c.2353A>C (p.Ile785Leu) c.2440A>C (p.Ile814Leu) c.2602A>C (p.Ile868Leu) c.2683A>C (p.Ile895Leu) c.*702A>C (n.*702A>C) c.2923A>C (p.Ile975Leu) c.2497A>C (p.Ile833Leu) c.2521A>C (p.Ile841Leu) n.2652A>C c.2917A>C (p.Ile973Leu) n.3097A>C n.3077A>C c.2569A>C (p.Ile857Leu) n.3062A>C | |
| 20 | g.3228263T= | CA2346474912 | SLC4A11 | c.2554A= (p.Ile852=) c.2485A= (p.Ile829=) c.2353A= (p.Ile785=) c.2440A= (p.Ile814=) c.2602A= (p.Ile868=) c.2683A= (p.Ile895=) c.*702A= (n.*702A=) c.2923A= (p.Ile975=) c.2497A= (p.Ile833=) c.2521A= (p.Ile841=) n.2652A= c.2917A= (p.Ile973=) n.3097A= n.3077A= c.2569A= (p.Ile857=) n.3062A= | |
| 20 | g.3228264G>A | CA509557607 | SLC4A11 | c.2553C>T (p.Pro851=) c.2484C>T (p.Pro828=) c.2352C>T (p.Pro784=) c.2439C>T (p.Pro813=) c.2601C>T (p.Pro867=) c.2682C>T (p.Pro894=) c.*701C>T (n.*701C>T) c.2922C>T (p.Pro974=) c.2496C>T (p.Pro832=) c.2520C>T (p.Pro840=) n.2651C>T c.2916C>T (p.Pro972=) n.3096C>T n.3076C>T c.2568C>T (p.Pro856=) n.3061C>T | ClinVar |
| 20 | g.3228264G>C | CA509557608 | SLC4A11 | c.2553C>G (p.Pro851=) c.2484C>G (p.Pro828=) c.2352C>G (p.Pro784=) c.2439C>G (p.Pro813=) c.2601C>G (p.Pro867=) c.2682C>G (p.Pro894=) c.*701C>G (n.*701C>G) c.2922C>G (p.Pro974=) c.2496C>G (p.Pro832=) c.2520C>G (p.Pro840=) n.2651C>G c.2916C>G (p.Pro972=) n.3096C>G n.3076C>G c.2568C>G (p.Pro856=) n.3061C>G | |
| 20 | g.3228264G>T | CA509557609 | SLC4A11 | c.2553C>A (p.Pro851=) c.2484C>A (p.Pro828=) c.2352C>A (p.Pro784=) c.2439C>A (p.Pro813=) c.2601C>A (p.Pro867=) c.2682C>A (p.Pro894=) c.*701C>A (n.*701C>A) c.2922C>A (p.Pro974=) c.2496C>A (p.Pro832=) c.2520C>A (p.Pro840=) n.2651C>A c.2916C>A (p.Pro972=) n.3096C>A n.3076C>A c.2568C>A (p.Pro856=) n.3061C>A | |
| 20 | g.3228265G>A | CA408084577 | SLC4A11 | c.2552C>T (p.Pro851Leu) c.2483C>T (p.Pro828Leu) c.2351C>T (p.Pro784Leu) c.2438C>T (p.Pro813Leu) c.2600C>T (p.Pro867Leu) c.2681C>T (p.Pro894Leu) c.*700C>T (n.*700C>T) c.2921C>T (p.Pro974Leu) c.2495C>T (p.Pro832Leu) c.2519C>T (p.Pro840Leu) n.2650C>T c.2915C>T (p.Pro972Leu) n.3095C>T n.3075C>T c.2567C>T (p.Pro856Leu) n.3060C>T | |
| 20 | g.3228265G>C | CA408084578 | SLC4A11 | c.2552C>G (p.Pro851Arg) c.2483C>G (p.Pro828Arg) c.2351C>G (p.Pro784Arg) c.2438C>G (p.Pro813Arg) c.2600C>G (p.Pro867Arg) c.2681C>G (p.Pro894Arg) c.*700C>G (n.*700C>G) c.2921C>G (p.Pro974Arg) c.2495C>G (p.Pro832Arg) c.2519C>G (p.Pro840Arg) n.2650C>G c.2915C>G (p.Pro972Arg) n.3095C>G n.3075C>G c.2567C>G (p.Pro856Arg) n.3060C>G | |
| 20 | g.3228265G>T | CA408084580 | SLC4A11 | c.2552C>A (p.Pro851His) c.2483C>A (p.Pro828His) c.2351C>A (p.Pro784His) c.2438C>A (p.Pro813His) c.2600C>A (p.Pro867His) c.2681C>A (p.Pro894His) c.*700C>A (n.*700C>A) c.2921C>A (p.Pro974His) c.2495C>A (p.Pro832His) c.2519C>A (p.Pro840His) n.2650C>A c.2915C>A (p.Pro972His) n.3095C>A n.3075C>A c.2567C>A (p.Pro856His) n.3060C>A | |
| 20 | g.3228266G>A | CA408084584 | SLC4A11 | c.2551C>T (p.Pro851Ser) c.2482C>T (p.Pro828Ser) c.2350C>T (p.Pro784Ser) c.2437C>T (p.Pro813Ser) c.2599C>T (p.Pro867Ser) c.2680C>T (p.Pro894Ser) c.*699C>T (n.*699C>T) c.2920C>T (p.Pro974Ser) c.2494C>T (p.Pro832Ser) c.2518C>T (p.Pro840Ser) n.2649C>T c.2914C>T (p.Pro972Ser) n.3094C>T n.3074C>T c.2566C>T (p.Pro856Ser) n.3059C>T | |
| 20 | g.3228266G>C | CA408084586 | SLC4A11 | c.2551C>G (p.Pro851Ala) c.2482C>G (p.Pro828Ala) c.2350C>G (p.Pro784Ala) c.2437C>G (p.Pro813Ala) c.2599C>G (p.Pro867Ala) c.2680C>G (p.Pro894Ala) c.*699C>G (n.*699C>G) c.2920C>G (p.Pro974Ala) c.2494C>G (p.Pro832Ala) c.2518C>G (p.Pro840Ala) n.2649C>G c.2914C>G (p.Pro972Ala) n.3094C>G n.3074C>G c.2566C>G (p.Pro856Ala) n.3059C>G | |
| 20 | g.3228266G= | CA2346474913 | SLC4A11 | c.2551C= (p.Pro851=) c.2482C= (p.Pro828=) c.2350C= (p.Pro784=) c.2437C= (p.Pro813=) c.2599C= (p.Pro867=) c.2680C= (p.Pro894=) c.*699C= (n.*699C=) c.2920C= (p.Pro974=) c.2494C= (p.Pro832=) c.2518C= (p.Pro840=) n.2649C= c.2914C= (p.Pro972=) n.3094C= n.3074C= c.2566C= (p.Pro856=) n.3059C= | |
| 20 | g.3228266G>T | CA408084588 | SLC4A11 | c.2551C>A (p.Pro851Thr) c.2482C>A (p.Pro828Thr) c.2350C>A (p.Pro784Thr) c.2437C>A (p.Pro813Thr) c.2599C>A (p.Pro867Thr) c.2680C>A (p.Pro894Thr) c.*699C>A (n.*699C>A) c.2920C>A (p.Pro974Thr) c.2494C>A (p.Pro832Thr) c.2518C>A (p.Pro840Thr) n.2649C>A c.2914C>A (p.Pro972Thr) n.3094C>A n.3074C>A c.2566C>A (p.Pro856Thr) n.3059C>A | |
| 20 | g.3228267G>A | CA509557610 | SLC4A11 | c.2550C>T (p.Ile850=) c.2481C>T (p.Ile827=) c.2349C>T (p.Ile783=) c.2436C>T (p.Ile812=) c.2598C>T (p.Ile866=) c.2679C>T (p.Ile893=) c.*698C>T (n.*698C>T) c.2919C>T (p.Ile973=) c.2493C>T (p.Ile831=) c.2517C>T (p.Ile839=) n.2648C>T c.2913C>T (p.Ile971=) n.3093C>T n.3073C>T c.2565C>T (p.Ile855=) n.3058C>T | gnomAD v4 COSMIC COSMIC |
| 20 | g.3228267G>C | CA408084590 | SLC4A11 | c.2550C>G (p.Ile850Met) c.2481C>G (p.Ile827Met) c.2349C>G (p.Ile783Met) c.2436C>G (p.Ile812Met) c.2598C>G (p.Ile866Met) c.2679C>G (p.Ile893Met) c.*698C>G (n.*698C>G) c.2919C>G (p.Ile973Met) c.2493C>G (p.Ile831Met) c.2517C>G (p.Ile839Met) n.2648C>G c.2913C>G (p.Ile971Met) n.3093C>G n.3073C>G c.2565C>G (p.Ile855Met) n.3058C>G | |
| 20 | g.3228267G>T | CA509557611 | SLC4A11 | c.2550C>A (p.Ile850=) c.2481C>A (p.Ile827=) c.2349C>A (p.Ile783=) c.2436C>A (p.Ile812=) c.2598C>A (p.Ile866=) c.2679C>A (p.Ile893=) c.*698C>A (n.*698C>A) c.2919C>A (p.Ile973=) c.2493C>A (p.Ile831=) c.2517C>A (p.Ile839=) n.2648C>A c.2913C>A (p.Ile971=) n.3093C>A n.3073C>A c.2565C>A (p.Ile855=) n.3058C>A | |
| 20 | g.3228274_3228282dup | CA634329253 | SLC4A11 | c.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 |
| 20 | g.3228268A>C | CA408084593 | SLC4A11 | c.2549T>G (p.Ile850Ser) c.2480T>G (p.Ile827Ser) c.2348T>G (p.Ile783Ser) c.2435T>G (p.Ile812Ser) c.2597T>G (p.Ile866Ser) c.2678T>G (p.Ile893Ser) c.*697T>G (n.*697T>G) c.2918T>G (p.Ile973Ser) c.2492T>G (p.Ile831Ser) c.2516T>G (p.Ile839Ser) n.2647T>G c.2912T>G (p.Ile971Ser) n.3092T>G n.3072T>G c.2564T>G (p.Ile855Ser) n.3057T>G | |
| 20 | g.3228268A>G | CA408084595 | SLC4A11 | c.2549T>C (p.Ile850Thr) c.2480T>C (p.Ile827Thr) c.2348T>C (p.Ile783Thr) c.2435T>C (p.Ile812Thr) c.2597T>C (p.Ile866Thr) c.2678T>C (p.Ile893Thr) c.*697T>C (n.*697T>C) c.2918T>C (p.Ile973Thr) c.2492T>C (p.Ile831Thr) c.2516T>C (p.Ile839Thr) n.2647T>C c.2912T>C (p.Ile971Thr) n.3092T>C n.3072T>C c.2564T>C (p.Ile855Thr) n.3057T>C | |
| 20 | g.3228268A>T | CA408084596 | SLC4A11 | c.2549T>A (p.Ile850Asn) c.2480T>A (p.Ile827Asn) c.2348T>A (p.Ile783Asn) c.2435T>A (p.Ile812Asn) c.2597T>A (p.Ile866Asn) c.2678T>A (p.Ile893Asn) c.*697T>A (n.*697T>A) c.2918T>A (p.Ile973Asn) c.2492T>A (p.Ile831Asn) c.2516T>A (p.Ile839Asn) n.2647T>A c.2912T>A (p.Ile971Asn) n.3092T>A n.3072T>A c.2564T>A (p.Ile855Asn) n.3057T>A | |
| 20 | g.3228269T>A | CA408084602 | SLC4A11 | c.2548A>T (p.Ile850Phe) c.2479A>T (p.Ile827Phe) c.2347A>T (p.Ile783Phe) c.2434A>T (p.Ile812Phe) c.2596A>T (p.Ile866Phe) c.2677A>T (p.Ile893Phe) c.*696A>T (n.*696A>T) c.2917A>T (p.Ile973Phe) c.2491A>T (p.Ile831Phe) c.2515A>T (p.Ile839Phe) n.2646A>T c.2911A>T (p.Ile971Phe) n.3091A>T n.3071A>T c.2563A>T (p.Ile855Phe) n.3056A>T | |
| 20 | g.3228269T>C | CA408084598 | SLC4A11 | c.2548A>G (p.Ile850Val) c.2479A>G (p.Ile827Val) c.2347A>G (p.Ile783Val) c.2434A>G (p.Ile812Val) c.2596A>G (p.Ile866Val) c.2677A>G (p.Ile893Val) c.*696A>G (n.*696A>G) c.2917A>G (p.Ile973Val) c.2491A>G (p.Ile831Val) c.2515A>G (p.Ile839Val) n.2646A>G c.2911A>G (p.Ile971Val) n.3091A>G n.3071A>G c.2563A>G (p.Ile855Val) n.3056A>G | gnomAD v4 |
| 20 | g.3228269T>G | CA408084600 | SLC4A11 | c.2548A>C (p.Ile850Leu) c.2479A>C (p.Ile827Leu) c.2347A>C (p.Ile783Leu) c.2434A>C (p.Ile812Leu) c.2596A>C (p.Ile866Leu) c.2677A>C (p.Ile893Leu) c.*696A>C (n.*696A>C) c.2917A>C (p.Ile973Leu) c.2491A>C (p.Ile831Leu) c.2515A>C (p.Ile839Leu) n.2646A>C c.2911A>C (p.Ile971Leu) n.3091A>C n.3071A>C c.2563A>C (p.Ile855Leu) n.3056A>C | |
| 20 | g.3228270C>A | CA408084604 | SLC4A11 | c.2547G>T (p.Met849Ile) c.2478G>T (p.Met826Ile) c.2346G>T (p.Met782Ile) c.2433G>T (p.Met811Ile) c.2595G>T (p.Met865Ile) c.2676G>T (p.Met892Ile) c.*695G>T (n.*695G>T) c.2916G>T (p.Met972Ile) c.2490G>T (p.Met830Ile) c.2514G>T (p.Met838Ile) n.2645G>T c.2910G>T (p.Met970Ile) n.3090G>T n.3070G>T c.2562G>T (p.Met854Ile) n.3055G>T | |
| 20 | g.3228270C>G | CA408084606 | SLC4A11 | c.2547G>C (p.Met849Ile) c.2478G>C (p.Met826Ile) c.2346G>C (p.Met782Ile) c.2433G>C (p.Met811Ile) c.2595G>C (p.Met865Ile) c.2676G>C (p.Met892Ile) c.*695G>C (n.*695G>C) c.2916G>C (p.Met972Ile) c.2490G>C (p.Met830Ile) c.2514G>C (p.Met838Ile) n.2645G>C c.2910G>C (p.Met970Ile) n.3090G>C n.3070G>C c.2562G>C (p.Met854Ile) n.3055G>C | |
| 20 | g.3228270C>T | CA408084608 | SLC4A11 | c.2547G>A (p.Met849Ile) c.2478G>A (p.Met826Ile) c.2346G>A (p.Met782Ile) c.2433G>A (p.Met811Ile) c.2595G>A (p.Met865Ile) c.2676G>A (p.Met892Ile) c.*695G>A (n.*695G>A) c.2916G>A (p.Met972Ile) c.2490G>A (p.Met830Ile) c.2514G>A (p.Met838Ile) n.2645G>A c.2910G>A (p.Met970Ile) n.3090G>A n.3070G>A c.2562G>A (p.Met854Ile) n.3055G>A | gnomAD v4 COSMIC COSMIC |
| 20 | g.3228271A>C | CA408084610 | SLC4A11 | c.2546T>G (p.Met849Arg) c.2477T>G (p.Met826Arg) c.2345T>G (p.Met782Arg) c.2432T>G (p.Met811Arg) c.2594T>G (p.Met865Arg) c.2675T>G (p.Met892Arg) c.*694T>G (n.*694T>G) c.2915T>G (p.Met972Arg) c.2489T>G (p.Met830Arg) c.2513T>G (p.Met838Arg) n.2644T>G c.2909T>G (p.Met970Arg) n.3089T>G n.3069T>G c.2561T>G (p.Met854Arg) n.3054T>G | |
| 20 | g.3228271A>G | CA408084612 | SLC4A11 | c.2546T>C (p.Met849Thr) c.2477T>C (p.Met826Thr) c.2345T>C (p.Met782Thr) c.2432T>C (p.Met811Thr) c.2594T>C (p.Met865Thr) c.2675T>C (p.Met892Thr) c.*694T>C (n.*694T>C) c.2915T>C (p.Met972Thr) c.2489T>C (p.Met830Thr) c.2513T>C (p.Met838Thr) n.2644T>C c.2909T>C (p.Met970Thr) n.3089T>C n.3069T>C c.2561T>C (p.Met854Thr) n.3054T>C | gnomAD v4 |
| 20 | g.3228271A>T | CA408084614 | SLC4A11 | c.2546T>A (p.Met849Lys) c.2477T>A (p.Met826Lys) c.2345T>A (p.Met782Lys) c.2432T>A (p.Met811Lys) c.2594T>A (p.Met865Lys) c.2675T>A (p.Met892Lys) c.*694T>A (n.*694T>A) c.2915T>A (p.Met972Lys) c.2489T>A (p.Met830Lys) c.2513T>A (p.Met838Lys) n.2644T>A c.2909T>A (p.Met970Lys) n.3089T>A n.3069T>A c.2561T>A (p.Met854Lys) n.3054T>A | |
| 20 | g.3228272T>A | CA408084616 | SLC4A11 | c.2545A>T (p.Met849Leu) c.2476A>T (p.Met826Leu) c.2344A>T (p.Met782Leu) c.2431A>T (p.Met811Leu) c.2593A>T (p.Met865Leu) c.2674A>T (p.Met892Leu) c.*693A>T (n.*693A>T) c.2914A>T (p.Met972Leu) c.2488A>T (p.Met830Leu) c.2512A>T (p.Met838Leu) n.2643A>T c.2908A>T (p.Met970Leu) n.3088A>T n.3068A>T c.2560A>T (p.Met854Leu) n.3053A>T | |
| 20 | g.3228272T>C | CA408084618 | SLC4A11 | c.2545A>G (p.Met849Val) c.2476A>G (p.Met826Val) c.2344A>G (p.Met782Val) c.2431A>G (p.Met811Val) c.2593A>G (p.Met865Val) c.2674A>G (p.Met892Val) c.*693A>G (n.*693A>G) c.2914A>G (p.Met972Val) c.2488A>G (p.Met830Val) c.2512A>G (p.Met838Val) n.2643A>G c.2908A>G (p.Met970Val) n.3088A>G n.3068A>G c.2560A>G (p.Met854Val) n.3053A>G | gnomAD v4 |
| 20 | g.3228272T>G | CA408084624 | SLC4A11 | c.2545A>C (p.Met849Leu) c.2476A>C (p.Met826Leu) c.2344A>C (p.Met782Leu) c.2431A>C (p.Met811Leu) c.2593A>C (p.Met865Leu) c.2674A>C (p.Met892Leu) c.*693A>C (n.*693A>C) c.2914A>C (p.Met972Leu) c.2488A>C (p.Met830Leu) c.2512A>C (p.Met838Leu) n.2643A>C c.2908A>C (p.Met970Leu) n.3088A>C n.3068A>C c.2560A>C (p.Met854Leu) n.3053A>C | |
| 20 | g.3228273G>A | CA509557612 | SLC4A11 | c.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 |