Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.34239077G>ACA489412564SLC12A6c.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
15g.34239077G>CCA489412565SLC12A6c.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
15g.34239077G>TCA489412566SLC12A6c.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
15g.34239078G>ACA391619340SLC12A6c.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
15g.34239078G>CCA391619341SLC12A6c.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
15g.34239078G>TCA391619342SLC12A6c.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
15g.34239079A>CCA391619343SLC12A6c.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
15g.34239079A>GCA391619345SLC12A6c.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
15g.34239079A>TCA391619344SLC12A6c.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
15g.34239080A>CCA391619346SLC12A6c.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
15g.34239080A>GCA489412577SLC12A6c.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
15g.34239080A>TCA489412576SLC12A6c.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
15g.34239081A>CCA391619349SLC12A6c.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
15g.34239081A>GCA391619347SLC12A6c.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
15g.34239081A>TCA391619348SLC12A6c.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
15g.34239082T>ACA391619350SLC12A6c.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
15g.34239082T>CCA391619351SLC12A6c.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
15g.34239082T>GCA391619352SLC12A6c.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
15g.34239083G>ACA489412589SLC12A6c.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
15g.34239083G>CCA489412587SLC12A6c.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
15g.34239083G>TCA489412585SLC12A6c.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
15g.34239084C>ACA391619353SLC12A6c.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
15g.34239084C>GCA391619354SLC12A6c.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
15g.34239084C>TCA391619355SLC12A6c.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
15g.34239085C>ACA391619356SLC12A6c.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
15g.34239085C>GCA391619357SLC12A6c.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
15g.34239085C>TCA391619358SLC12A6c.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
15g.34239086C>ACA391619359SLC12A6c.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
15g.34239086C>GCA391619360SLC12A6c.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
15g.34239086C>TCA489412596SLC12A6c.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
15g.34239091_34239092delCA2497387238SLC12A6c.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
15g.34239087T>ACA391619361SLC12A6c.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
15g.34239087T>CCA391619363SLC12A6c.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
15g.34239087T>GCA391619362SLC12A6c.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
15g.34239087_34239088insGACA617554854SLC12A6c.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
15g.34239088C>ACA391619364SLC12A6c.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
15g.34239088C>GCA391619365SLC12A6c.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
15g.34239088C>TCA391619366SLC12A6c.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
15g.34239089T>ACA391619367SLC12A6c.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
15g.34239089T>CCA489412606SLC12A6c.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
15g.34239089T>GCA391619368SLC12A6c.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
15g.34239090C>ACA391619369SLC12A6c.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
15g.34239090C>GCA391619370SLC12A6c.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
15g.34239090C>TCA391619371SLC12A6c.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
15g.34239091T>ACA391619372SLC12A6c.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
15g.34239091T>CCA391619373SLC12A6c.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
15g.34239091T>GCA489412612SLC12A6c.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
15g.34239092C>ACA489412614SLC12A6c.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
15g.34239092C>GCA489412618SLC12A6c.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
15g.34239092C>TCA489412616SLC12A6c.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

Number of alleles fetched