| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34239061_34239062del | CA2695197256 | SLC12A6 | c.2535_2536del (p.Cys846TrpfsTer16) c.2382_2383del (p.Cys795TrpfsTer16) c.2358_2359del (p.Cys787TrpfsTer16) c.2490_2491del (p.Cys831TrpfsTer16) c.2508_2509del (p.Cys837TrpfsTer16) n.483_484del c.1971_1972del (p.Cys658TrpfsTer16) c.2388_2389del (p.Cys797TrpfsTer16) n.2541_2542del n.2542_2543del n.3785_3786del | |
| 15 | g.34239062T>A | CA489412548 | SLC12A6 | c.2535A>T (p.Ser845=) c.2382A>T (p.Ser794=) c.2358A>T (p.Ser786=) c.2490A>T (p.Ser830=) c.2508A>T (p.Ser836=) n.483A>T c.1971A>T (p.Ser657=) c.2388A>T (p.Ser796=) n.2541A>T n.2542A>T n.3785A>T | |
| 15 | g.34239062T>C | CA489412547 | SLC12A6 | c.2535A>G (p.Ser845=) c.2382A>G (p.Ser794=) c.2358A>G (p.Ser786=) c.2490A>G (p.Ser830=) c.2508A>G (p.Ser836=) n.483A>G c.1971A>G (p.Ser657=) c.2388A>G (p.Ser796=) n.2541A>G n.2542A>G n.3785A>G | dbSNP gnomAD v2 |
| 15 | g.34239062T>G | CA489412546 | SLC12A6 | c.2535A>C (p.Ser845=) c.2382A>C (p.Ser794=) c.2358A>C (p.Ser786=) c.2490A>C (p.Ser830=) c.2508A>C (p.Ser836=) n.483A>C c.1971A>C (p.Ser657=) c.2388A>C (p.Ser796=) n.2541A>C n.2542A>C n.3785A>C | |
| 15 | g.34239063G>A | CA391619308 | SLC12A6 | c.2534C>T (p.Ser845Leu) c.2381C>T (p.Ser794Leu) c.2357C>T (p.Ser786Leu) c.2489C>T (p.Ser830Leu) c.2507C>T (p.Ser836Leu) n.482C>T c.1970C>T (p.Ser657Leu) c.2387C>T (p.Ser796Leu) n.2540C>T n.2541C>T n.3784C>T | |
| 15 | g.34239063G>C | CA391619306 | SLC12A6 | c.2534C>G (p.Ser845Ter) c.2381C>G (p.Ser794Ter) c.2357C>G (p.Ser786Ter) c.2489C>G (p.Ser830Ter) c.2507C>G (p.Ser836Ter) n.482C>G c.1970C>G (p.Ser657Ter) c.2387C>G (p.Ser796Ter) n.2540C>G n.2541C>G n.3784C>G | |
| 15 | g.34239063G>T | CA391619307 | SLC12A6 | c.2534C>A (p.Ser845Ter) c.2381C>A (p.Ser794Ter) c.2357C>A (p.Ser786Ter) c.2489C>A (p.Ser830Ter) c.2507C>A (p.Ser836Ter) n.482C>A c.1970C>A (p.Ser657Ter) c.2387C>A (p.Ser796Ter) n.2540C>A n.2541C>A n.3784C>A | |
| 15 | g.34239064A>C | CA391619309 | SLC12A6 | c.2533T>G (p.Ser845Ala) c.2380T>G (p.Ser794Ala) c.2356T>G (p.Ser786Ala) c.2488T>G (p.Ser830Ala) c.2506T>G (p.Ser836Ala) n.481T>G c.1969T>G (p.Ser657Ala) c.2386T>G (p.Ser796Ala) n.2539T>G n.2540T>G n.3783T>G | |
| 15 | g.34239064A>G | CA391619310 | SLC12A6 | c.2533T>C (p.Ser845Pro) c.2380T>C (p.Ser794Pro) c.2356T>C (p.Ser786Pro) c.2488T>C (p.Ser830Pro) c.2506T>C (p.Ser836Pro) n.481T>C c.1969T>C (p.Ser657Pro) c.2386T>C (p.Ser796Pro) n.2539T>C n.2540T>C n.3783T>C | |
| 15 | g.34239064A>T | CA391619311 | SLC12A6 | c.2533T>A (p.Ser845Thr) c.2380T>A (p.Ser794Thr) c.2356T>A (p.Ser786Thr) c.2488T>A (p.Ser830Thr) c.2506T>A (p.Ser836Thr) n.481T>A c.1969T>A (p.Ser657Thr) c.2386T>A (p.Ser796Thr) n.2539T>A n.2540T>A n.3783T>A | |
| 15 | g.34239064dup | CA2695197257 | SLC12A6 | c.2533dup (p.Ser845PhefsTer18) c.2380dup (p.Ser794PhefsTer18) c.2356dup (p.Ser786PhefsTer18) c.2488dup (p.Ser830PhefsTer18) c.2506dup (p.Ser836PhefsTer18) n.481dup c.1969dup (p.Ser657PhefsTer18) c.2386dup (p.Ser796PhefsTer18) n.2539dup n.2540dup n.3783dup | |
| 15 | g.34239065C>A | CA391619312 | SLC12A6 | c.2532G>T (p.Gln844His) c.2379G>T (p.Gln793His) c.2355G>T (p.Gln785His) c.2487G>T (p.Gln829His) c.2505G>T (p.Gln835His) n.480G>T c.1968G>T (p.Gln656His) c.2385G>T (p.Gln795His) n.2538G>T n.2539G>T n.3782G>T | |
| 15 | g.34239065C>G | CA391619313 | SLC12A6 | c.2532G>C (p.Gln844His) c.2379G>C (p.Gln793His) c.2355G>C (p.Gln785His) c.2487G>C (p.Gln829His) c.2505G>C (p.Gln835His) n.480G>C c.1968G>C (p.Gln656His) c.2385G>C (p.Gln795His) n.2538G>C n.2539G>C n.3782G>C | |
| 15 | g.34239065C>T | CA489412549 | SLC12A6 | c.2532G>A (p.Gln844=) c.2379G>A (p.Gln793=) c.2355G>A (p.Gln785=) c.2487G>A (p.Gln829=) c.2505G>A (p.Gln835=) n.480G>A c.1968G>A (p.Gln656=) c.2385G>A (p.Gln795=) n.2538G>A n.2539G>A n.3782G>A | gnomAD v4 |
| 15 | g.34239066T>A | CA391619314 | SLC12A6 | c.2531A>T (p.Gln844Leu) c.2378A>T (p.Gln793Leu) c.2354A>T (p.Gln785Leu) c.2486A>T (p.Gln829Leu) c.2504A>T (p.Gln835Leu) n.479A>T c.1967A>T (p.Gln656Leu) c.2384A>T (p.Gln795Leu) n.2537A>T n.2538A>T n.3781A>T | |
| 15 | g.34239066T>C | CA391619316 | SLC12A6 | c.2531A>G (p.Gln844Arg) c.2378A>G (p.Gln793Arg) c.2354A>G (p.Gln785Arg) c.2486A>G (p.Gln829Arg) c.2504A>G (p.Gln835Arg) n.479A>G c.1967A>G (p.Gln656Arg) c.2384A>G (p.Gln795Arg) n.2537A>G n.2538A>G n.3781A>G | |
| 15 | g.34239066T>G | CA391619315 | SLC12A6 | c.2531A>C (p.Gln844Pro) c.2378A>C (p.Gln793Pro) c.2354A>C (p.Gln785Pro) c.2486A>C (p.Gln829Pro) c.2504A>C (p.Gln835Pro) n.479A>C c.1967A>C (p.Gln656Pro) c.2384A>C (p.Gln795Pro) n.2537A>C n.2538A>C n.3781A>C | |
| 15 | g.34239067G>A | CA391619317 | SLC12A6 | c.2530C>T (p.Gln844Ter) c.2377C>T (p.Gln793Ter) c.2353C>T (p.Gln785Ter) c.2485C>T (p.Gln829Ter) c.2503C>T (p.Gln835Ter) n.478C>T c.1966C>T (p.Gln656Ter) c.2383C>T (p.Gln795Ter) n.2536C>T n.2537C>T n.3780C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.34239067G>C | CA391619318 | SLC12A6 | c.2530C>G (p.Gln844Glu) c.2377C>G (p.Gln793Glu) c.2353C>G (p.Gln785Glu) c.2485C>G (p.Gln829Glu) c.2503C>G (p.Gln835Glu) n.478C>G c.1966C>G (p.Gln656Glu) c.2383C>G (p.Gln795Glu) n.2536C>G n.2537C>G n.3780C>G | |
| 15 | g.34239067G>T | CA391619319 | SLC12A6 | c.2530C>A (p.Gln844Lys) c.2377C>A (p.Gln793Lys) c.2353C>A (p.Gln785Lys) c.2485C>A (p.Gln829Lys) c.2503C>A (p.Gln835Lys) n.478C>A c.1966C>A (p.Gln656Lys) c.2383C>A (p.Gln795Lys) n.2536C>A n.2537C>A n.3780C>A | |
| 15 | g.34239068G>A | CA489412550 | SLC12A6 | c.2529C>T (p.Ile843=) c.2376C>T (p.Ile792=) c.2352C>T (p.Ile784=) c.2484C>T (p.Ile828=) c.2502C>T (p.Ile834=) n.477C>T c.1965C>T (p.Ile655=) c.2382C>T (p.Ile794=) n.2535C>T n.2536C>T n.3779C>T | |
| 15 | g.34239068G>C | CA391619320 | SLC12A6 | c.2529C>G (p.Ile843Met) c.2376C>G (p.Ile792Met) c.2352C>G (p.Ile784Met) c.2484C>G (p.Ile828Met) c.2502C>G (p.Ile834Met) n.477C>G c.1965C>G (p.Ile655Met) c.2382C>G (p.Ile794Met) n.2535C>G n.2536C>G n.3779C>G | |
| 15 | g.34239068G>T | CA489412551 | SLC12A6 | c.2529C>A (p.Ile843=) c.2376C>A (p.Ile792=) c.2352C>A (p.Ile784=) c.2484C>A (p.Ile828=) c.2502C>A (p.Ile834=) n.477C>A c.1965C>A (p.Ile655=) c.2382C>A (p.Ile794=) n.2535C>A n.2536C>A n.3779C>A | |
| 15 | g.34239069A>C | CA391619321 | SLC12A6 | c.2528T>G (p.Ile843Ser) c.2375T>G (p.Ile792Ser) c.2351T>G (p.Ile784Ser) c.2483T>G (p.Ile828Ser) c.2501T>G (p.Ile834Ser) n.476T>G c.1964T>G (p.Ile655Ser) c.2381T>G (p.Ile794Ser) n.2534T>G n.2535T>G n.3778T>G | |
| 15 | g.34239069A>G | CA391619322 | SLC12A6 | c.2528T>C (p.Ile843Thr) c.2375T>C (p.Ile792Thr) c.2351T>C (p.Ile784Thr) c.2483T>C (p.Ile828Thr) c.2501T>C (p.Ile834Thr) n.476T>C c.1964T>C (p.Ile655Thr) c.2381T>C (p.Ile794Thr) n.2534T>C n.2535T>C n.3778T>C | |
| 15 | g.34239069A>T | CA391619323 | SLC12A6 | c.2528T>A (p.Ile843Asn) c.2375T>A (p.Ile792Asn) c.2351T>A (p.Ile784Asn) c.2483T>A (p.Ile828Asn) c.2501T>A (p.Ile834Asn) n.476T>A c.1964T>A (p.Ile655Asn) c.2381T>A (p.Ile794Asn) n.2534T>A n.2535T>A n.3778T>A | |
| 15 | g.34239070T>A | CA391619324 | SLC12A6 | c.2527A>T (p.Ile843Phe) c.2374A>T (p.Ile792Phe) c.2350A>T (p.Ile784Phe) c.2482A>T (p.Ile828Phe) c.2500A>T (p.Ile834Phe) n.475A>T c.1963A>T (p.Ile655Phe) c.2380A>T (p.Ile794Phe) n.2533A>T n.2534A>T n.3777A>T | |
| 15 | g.34239070T>C | CA391619325 | SLC12A6 | c.2527A>G (p.Ile843Val) c.2374A>G (p.Ile792Val) c.2350A>G (p.Ile784Val) c.2482A>G (p.Ile828Val) c.2500A>G (p.Ile834Val) n.475A>G c.1963A>G (p.Ile655Val) c.2380A>G (p.Ile794Val) n.2533A>G n.2534A>G n.3777A>G | |
| 15 | g.34239070T>G | CA391619326 | SLC12A6 | c.2527A>C (p.Ile843Leu) c.2374A>C (p.Ile792Leu) c.2350A>C (p.Ile784Leu) c.2482A>C (p.Ile828Leu) c.2500A>C (p.Ile834Leu) n.475A>C c.1963A>C (p.Ile655Leu) c.2380A>C (p.Ile794Leu) n.2533A>C n.2534A>C n.3777A>C | |
| 15 | g.34239071G>A | CA489412554 | SLC12A6 | c.2526C>T (p.Leu842=) c.2373C>T (p.Leu791=) c.2349C>T (p.Leu783=) c.2481C>T (p.Leu827=) c.2499C>T (p.Leu833=) n.474C>T c.1962C>T (p.Leu654=) c.2379C>T (p.Leu793=) n.2532C>T n.2533C>T n.3776C>T | dbSNP gnomAD v4 |
| 15 | g.34239071G>C | CA489412552 | SLC12A6 | c.2526C>G (p.Leu842=) c.2373C>G (p.Leu791=) c.2349C>G (p.Leu783=) c.2481C>G (p.Leu827=) c.2499C>G (p.Leu833=) n.474C>G c.1962C>G (p.Leu654=) c.2379C>G (p.Leu793=) n.2532C>G n.2533C>G n.3776C>G | |
| 15 | g.34239071G>T | CA489412553 | SLC12A6 | c.2526C>A (p.Leu842=) c.2373C>A (p.Leu791=) c.2349C>A (p.Leu783=) c.2481C>A (p.Leu827=) c.2499C>A (p.Leu833=) n.474C>A c.1962C>A (p.Leu654=) c.2379C>A (p.Leu793=) n.2532C>A n.2533C>A n.3776C>A | |
| 15 | g.34239072A>C | CA391619327 | SLC12A6 | c.2525T>G (p.Leu842Arg) c.2372T>G (p.Leu791Arg) c.2348T>G (p.Leu783Arg) c.2480T>G (p.Leu827Arg) c.2498T>G (p.Leu833Arg) n.473T>G c.1961T>G (p.Leu654Arg) c.2378T>G (p.Leu793Arg) n.2531T>G n.2532T>G n.3775T>G | |
| 15 | g.34239072A>G | CA391619328 | SLC12A6 | c.2525T>C (p.Leu842Pro) c.2372T>C (p.Leu791Pro) c.2348T>C (p.Leu783Pro) c.2480T>C (p.Leu827Pro) c.2498T>C (p.Leu833Pro) n.473T>C c.1961T>C (p.Leu654Pro) c.2378T>C (p.Leu793Pro) n.2531T>C n.2532T>C n.3775T>C | |
| 15 | g.34239072A>T | CA391619329 | SLC12A6 | c.2525T>A (p.Leu842His) c.2372T>A (p.Leu791His) c.2348T>A (p.Leu783His) c.2480T>A (p.Leu827His) c.2498T>A (p.Leu833His) n.473T>A c.1961T>A (p.Leu654His) c.2378T>A (p.Leu793His) n.2531T>A n.2532T>A n.3775T>A | |
| 15 | g.34239073G>A | CA391619332 | SLC12A6 | c.2524C>T (p.Leu842Phe) c.2371C>T (p.Leu791Phe) c.2347C>T (p.Leu783Phe) c.2479C>T (p.Leu827Phe) c.2497C>T (p.Leu833Phe) n.472C>T c.1960C>T (p.Leu654Phe) c.2377C>T (p.Leu793Phe) n.2530C>T n.2531C>T n.3774C>T | |
| 15 | g.34239073G>C | CA391619330 | SLC12A6 | c.2524C>G (p.Leu842Val) c.2371C>G (p.Leu791Val) c.2347C>G (p.Leu783Val) c.2479C>G (p.Leu827Val) c.2497C>G (p.Leu833Val) n.472C>G c.1960C>G (p.Leu654Val) c.2377C>G (p.Leu793Val) n.2530C>G n.2531C>G n.3774C>G | |
| 15 | g.34239073G>T | CA391619331 | SLC12A6 | c.2524C>A (p.Leu842Ile) c.2371C>A (p.Leu791Ile) c.2347C>A (p.Leu783Ile) c.2479C>A (p.Leu827Ile) c.2497C>A (p.Leu833Ile) n.472C>A c.1960C>A (p.Leu654Ile) c.2377C>A (p.Leu793Ile) n.2530C>A n.2531C>A n.3774C>A | |
| 15 | g.34239074G>A | CA489412557 | SLC12A6 | c.2523C>T (p.His841=) c.2370C>T (p.His790=) c.2346C>T (p.His782=) c.2478C>T (p.His826=) c.2496C>T (p.His832=) n.471C>T c.1959C>T (p.His653=) c.2376C>T (p.His792=) n.2529C>T n.2530C>T n.3773C>T | |
| 15 | g.34239074G>C | CA7464065 | SLC12A6 | c.2523C>G (p.His841Gln) c.2370C>G (p.His790Gln) c.2346C>G (p.His782Gln) c.2478C>G (p.His826Gln) c.2496C>G (p.His832Gln) n.471C>G c.1959C>G (p.His653Gln) c.2376C>G (p.His792Gln) n.2529C>G n.2530C>G n.3773C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34239074G>T | CA391619333 | SLC12A6 | c.2523C>A (p.His841Gln) c.2370C>A (p.His790Gln) c.2346C>A (p.His782Gln) c.2478C>A (p.His826Gln) c.2496C>A (p.His832Gln) n.471C>A c.1959C>A (p.His653Gln) c.2376C>A (p.His792Gln) n.2529C>A n.2530C>A n.3773C>A | |
| 15 | g.34239075T>A | CA391619334 | SLC12A6 | c.2522A>T (p.His841Leu) c.2369A>T (p.His790Leu) c.2345A>T (p.His782Leu) c.2477A>T (p.His826Leu) c.2495A>T (p.His832Leu) n.470A>T c.1958A>T (p.His653Leu) c.2375A>T (p.His792Leu) n.2528A>T n.2529A>T n.3772A>T | |
| 15 | g.34239075T>C | CA391619335 | SLC12A6 | c.2522A>G (p.His841Arg) c.2369A>G (p.His790Arg) c.2345A>G (p.His782Arg) c.2477A>G (p.His826Arg) c.2495A>G (p.His832Arg) n.470A>G c.1958A>G (p.His653Arg) c.2375A>G (p.His792Arg) n.2528A>G n.2529A>G n.3772A>G | |
| 15 | g.34239075T>G | CA391619336 | SLC12A6 | c.2522A>C (p.His841Pro) c.2369A>C (p.His790Pro) c.2345A>C (p.His782Pro) c.2477A>C (p.His826Pro) c.2495A>C (p.His832Pro) n.470A>C c.1958A>C (p.His653Pro) c.2375A>C (p.His792Pro) n.2528A>C n.2529A>C n.3772A>C | |
| 15 | g.34239076G>A | CA391619337 | SLC12A6 | c.2521C>T (p.His841Tyr) c.2368C>T (p.His790Tyr) c.2344C>T (p.His782Tyr) c.2476C>T (p.His826Tyr) c.2494C>T (p.His832Tyr) n.469C>T c.1957C>T (p.His653Tyr) c.2374C>T (p.His792Tyr) n.2527C>T n.2528C>T n.3771C>T | |
| 15 | g.34239076G>C | CA391619338 | SLC12A6 | c.2521C>G (p.His841Asp) c.2368C>G (p.His790Asp) c.2344C>G (p.His782Asp) c.2476C>G (p.His826Asp) c.2494C>G (p.His832Asp) n.469C>G c.1957C>G (p.His653Asp) c.2374C>G (p.His792Asp) n.2527C>G n.2528C>G n.3771C>G | |
| 15 | g.34239076G>T | CA391619339 | SLC12A6 | c.2521C>A (p.His841Asn) c.2368C>A (p.His790Asn) c.2344C>A (p.His782Asn) c.2476C>A (p.His826Asn) c.2494C>A (p.His832Asn) n.469C>A c.1957C>A (p.His653Asn) c.2374C>A (p.His792Asn) n.2527C>A n.2528C>A n.3771C>A | |
| 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 |