Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.34239077G>A | CA489412564 | SLC12A6 | c.2520C>T (p.Ser840=) c.2367C>T (p.Ser789=) c.2343C>T (p.Ser781=) c.2475C>T (p.Ser825=) c.2493C>T (p.Ser831=) n.468C>T c.1956C>T (p.Ser652=) c.2373C>T (p.Ser791=) n.2526C>T n.2527C>T n.3770C>T | |
15 | g.34239077G>C | CA489412565 | SLC12A6 | c.2520C>G (p.Ser840=) c.2367C>G (p.Ser789=) c.2343C>G (p.Ser781=) c.2475C>G (p.Ser825=) c.2493C>G (p.Ser831=) n.468C>G c.1956C>G (p.Ser652=) c.2373C>G (p.Ser791=) n.2526C>G n.2527C>G n.3770C>G | |
15 | g.34239077G>T | CA489412566 | SLC12A6 | c.2520C>A (p.Ser840=) c.2367C>A (p.Ser789=) c.2343C>A (p.Ser781=) c.2475C>A (p.Ser825=) c.2493C>A (p.Ser831=) n.468C>A c.1956C>A (p.Ser652=) c.2373C>A (p.Ser791=) n.2526C>A n.2527C>A n.3770C>A | |
15 | g.34239078G>A | CA391619340 | SLC12A6 | c.2519C>T (p.Ser840Phe) c.2366C>T (p.Ser789Phe) c.2342C>T (p.Ser781Phe) c.2474C>T (p.Ser825Phe) c.2492C>T (p.Ser831Phe) n.467C>T c.1955C>T (p.Ser652Phe) c.2372C>T (p.Ser791Phe) n.2525C>T n.2526C>T n.3769C>T | |
15 | g.34239078G>C | CA391619341 | SLC12A6 | c.2519C>G (p.Ser840Cys) c.2366C>G (p.Ser789Cys) c.2342C>G (p.Ser781Cys) c.2474C>G (p.Ser825Cys) c.2492C>G (p.Ser831Cys) n.467C>G c.1955C>G (p.Ser652Cys) c.2372C>G (p.Ser791Cys) n.2525C>G n.2526C>G n.3769C>G | |
15 | g.34239078G>T | CA391619342 | SLC12A6 | c.2519C>A (p.Ser840Tyr) c.2366C>A (p.Ser789Tyr) c.2342C>A (p.Ser781Tyr) c.2474C>A (p.Ser825Tyr) c.2492C>A (p.Ser831Tyr) n.467C>A c.1955C>A (p.Ser652Tyr) c.2372C>A (p.Ser791Tyr) n.2525C>A n.2526C>A n.3769C>A | |
15 | g.34239079A>C | CA391619343 | SLC12A6 | c.2518T>G (p.Ser840Ala) c.2365T>G (p.Ser789Ala) c.2341T>G (p.Ser781Ala) c.2473T>G (p.Ser825Ala) c.2491T>G (p.Ser831Ala) n.466T>G c.1954T>G (p.Ser652Ala) c.2371T>G (p.Ser791Ala) n.2524T>G n.2525T>G n.3768T>G | |
15 | g.34239079A>G | CA391619345 | SLC12A6 | c.2518T>C (p.Ser840Pro) c.2365T>C (p.Ser789Pro) c.2341T>C (p.Ser781Pro) c.2473T>C (p.Ser825Pro) c.2491T>C (p.Ser831Pro) n.466T>C c.1954T>C (p.Ser652Pro) c.2371T>C (p.Ser791Pro) n.2524T>C n.2525T>C n.3768T>C | |
15 | g.34239079A>T | CA391619344 | SLC12A6 | c.2518T>A (p.Ser840Thr) c.2365T>A (p.Ser789Thr) c.2341T>A (p.Ser781Thr) c.2473T>A (p.Ser825Thr) c.2491T>A (p.Ser831Thr) n.466T>A c.1954T>A (p.Ser652Thr) c.2371T>A (p.Ser791Thr) n.2524T>A n.2525T>A n.3768T>A | |
15 | g.34239080A>C | CA391619346 | SLC12A6 | c.2517T>G (p.Ile839Met) c.2364T>G (p.Ile788Met) c.2340T>G (p.Ile780Met) c.2472T>G (p.Ile824Met) c.2490T>G (p.Ile830Met) n.465T>G c.1953T>G (p.Ile651Met) c.2370T>G (p.Ile790Met) n.2523T>G n.2524T>G n.3767T>G | |
15 | g.34239080A>G | CA489412577 | SLC12A6 | c.2517T>C (p.Ile839=) c.2364T>C (p.Ile788=) c.2340T>C (p.Ile780=) c.2472T>C (p.Ile824=) c.2490T>C (p.Ile830=) n.465T>C c.1953T>C (p.Ile651=) c.2370T>C (p.Ile790=) n.2523T>C n.2524T>C n.3767T>C | |
15 | g.34239080A>T | CA489412576 | SLC12A6 | c.2517T>A (p.Ile839=) c.2364T>A (p.Ile788=) c.2340T>A (p.Ile780=) c.2472T>A (p.Ile824=) c.2490T>A (p.Ile830=) n.465T>A c.1953T>A (p.Ile651=) c.2370T>A (p.Ile790=) n.2523T>A n.2524T>A n.3767T>A | |
15 | g.34239081A>C | CA391619349 | SLC12A6 | c.2516T>G (p.Ile839Ser) c.2363T>G (p.Ile788Ser) c.2339T>G (p.Ile780Ser) c.2471T>G (p.Ile824Ser) c.2489T>G (p.Ile830Ser) n.464T>G c.1952T>G (p.Ile651Ser) c.2369T>G (p.Ile790Ser) n.2522T>G n.2523T>G n.3766T>G | |
15 | g.34239081A>G | CA391619347 | SLC12A6 | c.2516T>C (p.Ile839Thr) c.2363T>C (p.Ile788Thr) c.2339T>C (p.Ile780Thr) c.2471T>C (p.Ile824Thr) c.2489T>C (p.Ile830Thr) n.464T>C c.1952T>C (p.Ile651Thr) c.2369T>C (p.Ile790Thr) n.2522T>C n.2523T>C n.3766T>C | |
15 | g.34239081A>T | CA391619348 | SLC12A6 | c.2516T>A (p.Ile839Asn) c.2363T>A (p.Ile788Asn) c.2339T>A (p.Ile780Asn) c.2471T>A (p.Ile824Asn) c.2489T>A (p.Ile830Asn) n.464T>A c.1952T>A (p.Ile651Asn) c.2369T>A (p.Ile790Asn) n.2522T>A n.2523T>A n.3766T>A | |
15 | g.34239082T>A | CA391619350 | SLC12A6 | c.2515A>T (p.Ile839Phe) c.2362A>T (p.Ile788Phe) c.2338A>T (p.Ile780Phe) c.2470A>T (p.Ile824Phe) c.2488A>T (p.Ile830Phe) n.463A>T c.1951A>T (p.Ile651Phe) c.2368A>T (p.Ile790Phe) n.2521A>T n.2522A>T n.3765A>T | |
15 | g.34239082T>C | CA391619351 | SLC12A6 | c.2515A>G (p.Ile839Val) c.2362A>G (p.Ile788Val) c.2338A>G (p.Ile780Val) c.2470A>G (p.Ile824Val) c.2488A>G (p.Ile830Val) n.463A>G c.1951A>G (p.Ile651Val) c.2368A>G (p.Ile790Val) n.2521A>G n.2522A>G n.3765A>G | |
15 | g.34239082T>G | CA391619352 | SLC12A6 | c.2515A>C (p.Ile839Leu) c.2362A>C (p.Ile788Leu) c.2338A>C (p.Ile780Leu) c.2470A>C (p.Ile824Leu) c.2488A>C (p.Ile830Leu) n.463A>C c.1951A>C (p.Ile651Leu) c.2368A>C (p.Ile790Leu) n.2521A>C n.2522A>C n.3765A>C | |
15 | g.34239083G>A | CA489412589 | SLC12A6 | c.2514C>T (p.Gly838=) c.2361C>T (p.Gly787=) c.2337C>T (p.Gly779=) c.2469C>T (p.Gly823=) c.2487C>T (p.Gly829=) n.462C>T c.1950C>T (p.Gly650=) c.2367C>T (p.Gly789=) n.2520C>T n.2521C>T n.3764C>T | |
15 | g.34239083G>C | CA489412587 | SLC12A6 | c.2514C>G (p.Gly838=) c.2361C>G (p.Gly787=) c.2337C>G (p.Gly779=) c.2469C>G (p.Gly823=) c.2487C>G (p.Gly829=) n.462C>G c.1950C>G (p.Gly650=) c.2367C>G (p.Gly789=) n.2520C>G n.2521C>G n.3764C>G | |
15 | g.34239083G>T | CA489412585 | SLC12A6 | c.2514C>A (p.Gly838=) c.2361C>A (p.Gly787=) c.2337C>A (p.Gly779=) c.2469C>A (p.Gly823=) c.2487C>A (p.Gly829=) n.462C>A c.1950C>A (p.Gly650=) c.2367C>A (p.Gly789=) n.2520C>A n.2521C>A n.3764C>A | |
15 | g.34239084C>A | CA391619353 | SLC12A6 | c.2513G>T (p.Gly838Val) c.2360G>T (p.Gly787Val) c.2336G>T (p.Gly779Val) c.2468G>T (p.Gly823Val) c.2486G>T (p.Gly829Val) n.461G>T c.1949G>T (p.Gly650Val) c.2366G>T (p.Gly789Val) n.2519G>T n.2520G>T n.3763G>T | |
15 | g.34239084C>G | CA391619354 | SLC12A6 | c.2513G>C (p.Gly838Ala) c.2360G>C (p.Gly787Ala) c.2336G>C (p.Gly779Ala) c.2468G>C (p.Gly823Ala) c.2486G>C (p.Gly829Ala) n.461G>C c.1949G>C (p.Gly650Ala) c.2366G>C (p.Gly789Ala) n.2519G>C n.2520G>C n.3763G>C | |
15 | g.34239084C>T | CA391619355 | SLC12A6 | c.2513G>A (p.Gly838Asp) c.2360G>A (p.Gly787Asp) c.2336G>A (p.Gly779Asp) c.2468G>A (p.Gly823Asp) c.2486G>A (p.Gly829Asp) n.461G>A c.1949G>A (p.Gly650Asp) c.2366G>A (p.Gly789Asp) n.2519G>A n.2520G>A n.3763G>A | |
15 | g.34239085C>A | CA391619356 | SLC12A6 | c.2512G>T (p.Gly838Cys) c.2359G>T (p.Gly787Cys) c.2335G>T (p.Gly779Cys) c.2467G>T (p.Gly823Cys) c.2485G>T (p.Gly829Cys) n.460G>T c.1948G>T (p.Gly650Cys) c.2365G>T (p.Gly789Cys) n.2518G>T n.2519G>T n.3762G>T | |
15 | g.34239085C>G | CA391619357 | SLC12A6 | c.2512G>C (p.Gly838Arg) c.2359G>C (p.Gly787Arg) c.2335G>C (p.Gly779Arg) c.2467G>C (p.Gly823Arg) c.2485G>C (p.Gly829Arg) n.460G>C c.1948G>C (p.Gly650Arg) c.2365G>C (p.Gly789Arg) n.2518G>C n.2519G>C n.3762G>C | |
15 | g.34239085C>T | CA391619358 | SLC12A6 | c.2512G>A (p.Gly838Ser) c.2359G>A (p.Gly787Ser) c.2335G>A (p.Gly779Ser) c.2467G>A (p.Gly823Ser) c.2485G>A (p.Gly829Ser) n.460G>A c.1948G>A (p.Gly650Ser) c.2365G>A (p.Gly789Ser) n.2518G>A n.2519G>A n.3762G>A | |
15 | g.34239086C>A | CA391619359 | SLC12A6 | c.2511G>T (p.Glu837Asp) c.2358G>T (p.Glu786Asp) c.2334G>T (p.Glu778Asp) c.2466G>T (p.Glu822Asp) c.2484G>T (p.Glu828Asp) n.459G>T c.1947G>T (p.Glu649Asp) c.2364G>T (p.Glu788Asp) n.2517G>T n.2518G>T n.3761G>T | |
15 | g.34239086C>G | CA391619360 | SLC12A6 | c.2511G>C (p.Glu837Asp) c.2358G>C (p.Glu786Asp) c.2334G>C (p.Glu778Asp) c.2466G>C (p.Glu822Asp) c.2484G>C (p.Glu828Asp) n.459G>C c.1947G>C (p.Glu649Asp) c.2364G>C (p.Glu788Asp) n.2517G>C n.2518G>C n.3761G>C | |
15 | g.34239086C>T | CA489412596 | SLC12A6 | c.2511G>A (p.Glu837=) c.2358G>A (p.Glu786=) c.2334G>A (p.Glu778=) c.2466G>A (p.Glu822=) c.2484G>A (p.Glu828=) n.459G>A c.1947G>A (p.Glu649=) c.2364G>A (p.Glu788=) n.2517G>A n.2518G>A n.3761G>A | |
15 | g.34239091_34239092del | CA2497387238 | SLC12A6 | c.2510_2511del (p.Glu837GlyfsTer25) c.2357_2358del (p.Glu786GlyfsTer25) c.2333_2334del (p.Glu778GlyfsTer25) c.2465_2466del (p.Glu822GlyfsTer25) c.2483_2484del (p.Glu828GlyfsTer25) n.458_459del c.1946_1947del (p.Glu649GlyfsTer25) c.2363_2364del (p.Glu788GlyfsTer25) n.2516_2517del n.2517_2518del n.3760_3761del | dbSNP |
15 | g.34239087T>A | CA391619361 | SLC12A6 | c.2510A>T (p.Glu837Val) c.2357A>T (p.Glu786Val) c.2333A>T (p.Glu778Val) c.2465A>T (p.Glu822Val) c.2483A>T (p.Glu828Val) n.458A>T c.1946A>T (p.Glu649Val) c.2363A>T (p.Glu788Val) n.2516A>T n.2517A>T n.3760A>T | |
15 | g.34239087T>C | CA391619363 | SLC12A6 | c.2510A>G (p.Glu837Gly) c.2357A>G (p.Glu786Gly) c.2333A>G (p.Glu778Gly) c.2465A>G (p.Glu822Gly) c.2483A>G (p.Glu828Gly) n.458A>G c.1946A>G (p.Glu649Gly) c.2363A>G (p.Glu788Gly) n.2516A>G n.2517A>G n.3760A>G | |
15 | g.34239087T>G | CA391619362 | SLC12A6 | c.2510A>C (p.Glu837Ala) c.2357A>C (p.Glu786Ala) c.2333A>C (p.Glu778Ala) c.2465A>C (p.Glu822Ala) c.2483A>C (p.Glu828Ala) n.458A>C c.1946A>C (p.Glu649Ala) c.2363A>C (p.Glu788Ala) n.2516A>C n.2517A>C n.3760A>C | |
15 | g.34239087_34239088insGA | CA617554854 | SLC12A6 | c.2509_2510insTC (p.Glu837ValfsTer16) c.2356_2357insTC (p.Glu786ValfsTer16) c.2332_2333insTC (p.Glu778ValfsTer16) c.2464_2465insTC (p.Glu822ValfsTer16) c.2482_2483insTC (p.Glu828ValfsTer16) n.457_458insTC c.1945_1946insTC (p.Glu649ValfsTer16) c.2362_2363insTC (p.Glu788ValfsTer16) n.2515_2516insTC n.2516_2517insTC n.3759_3760insTC | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34239088C>A | CA391619364 | SLC12A6 | c.2509G>T (p.Glu837Ter) c.2356G>T (p.Glu786Ter) c.2332G>T (p.Glu778Ter) c.2464G>T (p.Glu822Ter) c.2482G>T (p.Glu828Ter) n.457G>T c.1945G>T (p.Glu649Ter) c.2362G>T (p.Glu788Ter) n.2515G>T n.2516G>T n.3759G>T | |
15 | g.34239088C>G | CA391619365 | SLC12A6 | c.2509G>C (p.Glu837Gln) c.2356G>C (p.Glu786Gln) c.2332G>C (p.Glu778Gln) c.2464G>C (p.Glu822Gln) c.2482G>C (p.Glu828Gln) n.457G>C c.1945G>C (p.Glu649Gln) c.2362G>C (p.Glu788Gln) n.2515G>C n.2516G>C n.3759G>C | |
15 | g.34239088C>T | CA391619366 | SLC12A6 | c.2509G>A (p.Glu837Lys) c.2356G>A (p.Glu786Lys) c.2332G>A (p.Glu778Lys) c.2464G>A (p.Glu822Lys) c.2482G>A (p.Glu828Lys) n.457G>A c.1945G>A (p.Glu649Lys) c.2362G>A (p.Glu788Lys) n.2515G>A n.2516G>A n.3759G>A | gnomAD v4 |
15 | g.34239089T>A | CA391619367 | SLC12A6 | c.2508A>T (p.Arg836Ser) c.2355A>T (p.Arg785Ser) c.2331A>T (p.Arg777Ser) c.2463A>T (p.Arg821Ser) c.2481A>T (p.Arg827Ser) n.456A>T c.1944A>T (p.Arg648Ser) c.2361A>T (p.Arg787Ser) n.2514A>T n.2515A>T n.3758A>T | |
15 | g.34239089T>C | CA489412606 | SLC12A6 | c.2508A>G (p.Arg836=) c.2355A>G (p.Arg785=) c.2331A>G (p.Arg777=) c.2463A>G (p.Arg821=) c.2481A>G (p.Arg827=) n.456A>G c.1944A>G (p.Arg648=) c.2361A>G (p.Arg787=) n.2514A>G n.2515A>G n.3758A>G | |
15 | g.34239089T>G | CA391619368 | SLC12A6 | c.2508A>C (p.Arg836Ser) c.2355A>C (p.Arg785Ser) c.2331A>C (p.Arg777Ser) c.2463A>C (p.Arg821Ser) c.2481A>C (p.Arg827Ser) n.456A>C c.1944A>C (p.Arg648Ser) c.2361A>C (p.Arg787Ser) n.2514A>C n.2515A>C n.3758A>C | |
15 | g.34239090C>A | CA391619369 | SLC12A6 | c.2507G>T (p.Arg836Ile) c.2354G>T (p.Arg785Ile) c.2330G>T (p.Arg777Ile) c.2462G>T (p.Arg821Ile) c.2480G>T (p.Arg827Ile) n.455G>T c.1943G>T (p.Arg648Ile) c.2360G>T (p.Arg787Ile) n.2513G>T n.2514G>T n.3757G>T | |
15 | g.34239090C>G | CA391619370 | SLC12A6 | c.2507G>C (p.Arg836Thr) c.2354G>C (p.Arg785Thr) c.2330G>C (p.Arg777Thr) c.2462G>C (p.Arg821Thr) c.2480G>C (p.Arg827Thr) n.455G>C c.1943G>C (p.Arg648Thr) c.2360G>C (p.Arg787Thr) n.2513G>C n.2514G>C n.3757G>C | |
15 | g.34239090C>T | CA391619371 | SLC12A6 | c.2507G>A (p.Arg836Lys) c.2354G>A (p.Arg785Lys) c.2330G>A (p.Arg777Lys) c.2462G>A (p.Arg821Lys) c.2480G>A (p.Arg827Lys) n.455G>A c.1943G>A (p.Arg648Lys) c.2360G>A (p.Arg787Lys) n.2513G>A n.2514G>A n.3757G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.34239091T>A | CA391619372 | SLC12A6 | c.2506A>T (p.Arg836Ter) c.2353A>T (p.Arg785Ter) c.2329A>T (p.Arg777Ter) c.2461A>T (p.Arg821Ter) c.2479A>T (p.Arg827Ter) n.454A>T c.1942A>T (p.Arg648Ter) c.2359A>T (p.Arg787Ter) n.2512A>T n.2513A>T n.3756A>T | |
15 | g.34239091T>C | CA391619373 | SLC12A6 | c.2506A>G (p.Arg836Gly) c.2353A>G (p.Arg785Gly) c.2329A>G (p.Arg777Gly) c.2461A>G (p.Arg821Gly) c.2479A>G (p.Arg827Gly) n.454A>G c.1942A>G (p.Arg648Gly) c.2359A>G (p.Arg787Gly) n.2512A>G n.2513A>G n.3756A>G | gnomAD v4 |
15 | g.34239091T>G | CA489412612 | SLC12A6 | c.2506A>C (p.Arg836=) c.2353A>C (p.Arg785=) c.2329A>C (p.Arg777=) c.2461A>C (p.Arg821=) c.2479A>C (p.Arg827=) n.454A>C c.1942A>C (p.Arg648=) c.2359A>C (p.Arg787=) n.2512A>C n.2513A>C n.3756A>C | |
15 | g.34239092C>A | CA489412614 | SLC12A6 | c.2505G>T (p.Leu835=) c.2352G>T (p.Leu784=) c.2328G>T (p.Leu776=) c.2460G>T (p.Leu820=) c.2478G>T (p.Leu826=) n.453G>T c.1941G>T (p.Leu647=) c.2358G>T (p.Leu786=) n.2511G>T n.2512G>T n.3755G>T | |
15 | g.34239092C>G | CA489412618 | SLC12A6 | c.2505G>C (p.Leu835=) c.2352G>C (p.Leu784=) c.2328G>C (p.Leu776=) c.2460G>C (p.Leu820=) c.2478G>C (p.Leu826=) n.453G>C c.1941G>C (p.Leu647=) c.2358G>C (p.Leu786=) n.2511G>C n.2512G>C n.3755G>C | |
15 | g.34239092C>T | CA489412616 | SLC12A6 | c.2505G>A (p.Leu835=) c.2352G>A (p.Leu784=) c.2328G>A (p.Leu776=) c.2460G>A (p.Leu820=) c.2478G>A (p.Leu826=) n.453G>A c.1941G>A (p.Leu647=) c.2358G>A (p.Leu786=) n.2511G>A n.2512G>A n.3755G>A |