Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
15g.34239093A>CCA391619376SLC12A6c.2504T>G (p.Leu835Arg)
c.2351T>G (p.Leu784Arg)
c.2327T>G (p.Leu776Arg)
c.2459T>G (p.Leu820Arg)
c.2477T>G (p.Leu826Arg)
n.452T>G
c.1940T>G (p.Leu647Arg)
c.2357T>G (p.Leu786Arg)
n.2510T>G
n.2511T>G
n.3754T>G
15g.34239093A>GCA391619375SLC12A6c.2504T>C (p.Leu835Pro)
c.2351T>C (p.Leu784Pro)
c.2327T>C (p.Leu776Pro)
c.2459T>C (p.Leu820Pro)
c.2477T>C (p.Leu826Pro)
n.452T>C
c.1940T>C (p.Leu647Pro)
c.2357T>C (p.Leu786Pro)
n.2510T>C
n.2511T>C
n.3754T>C
15g.34239093A>TCA391619374SLC12A6c.2504T>A (p.Leu835Gln)
c.2351T>A (p.Leu784Gln)
c.2327T>A (p.Leu776Gln)
c.2459T>A (p.Leu820Gln)
c.2477T>A (p.Leu826Gln)
n.452T>A
c.1940T>A (p.Leu647Gln)
c.2357T>A (p.Leu786Gln)
n.2510T>A
n.2511T>A
n.3754T>A
15g.34239093_34239097delCA2627635366SLC12A6c.2500_2504del (p.Lys834GlufsTer27)
c.2347_2351del (p.Lys783GlufsTer27)
c.2323_2327del (p.Lys775GlufsTer27)
c.2455_2459del (p.Lys819GlufsTer27)
c.2473_2477del (p.Lys825GlufsTer27)
n.448_452del
c.1936_1940del (p.Lys646GlufsTer27)
c.2353_2357del (p.Lys785GlufsTer27)
n.2506_2510del
n.2507_2511del
n.3750_3754del
 gnomAD v4
15g.34239094G>ACA489412625SLC12A6c.2503C>T (p.Leu835=)
c.2350C>T (p.Leu784=)
c.2326C>T (p.Leu776=)
c.2458C>T (p.Leu820=)
c.2476C>T (p.Leu826=)
n.451C>T
c.1939C>T (p.Leu647=)
c.2356C>T (p.Leu786=)
n.2509C>T
n.2510C>T
n.3753C>T
15g.34239094G>CCA391619377SLC12A6c.2503C>G (p.Leu835Val)
c.2350C>G (p.Leu784Val)
c.2326C>G (p.Leu776Val)
c.2458C>G (p.Leu820Val)
c.2476C>G (p.Leu826Val)
n.451C>G
c.1939C>G (p.Leu647Val)
c.2356C>G (p.Leu786Val)
n.2509C>G
n.2510C>G
n.3753C>G
15g.34239094G>TCA391619378SLC12A6c.2503C>A (p.Leu835Met)
c.2350C>A (p.Leu784Met)
c.2326C>A (p.Leu776Met)
c.2458C>A (p.Leu820Met)
c.2476C>A (p.Leu826Met)
n.451C>A
c.1939C>A (p.Leu647Met)
c.2356C>A (p.Leu786Met)
n.2509C>A
n.2510C>A
n.3753C>A
 gnomAD v4
15g.34239095C>ACA391619379SLC12A6c.2502G>T (p.Lys834Asn)
c.2349G>T (p.Lys783Asn)
c.2325G>T (p.Lys775Asn)
c.2457G>T (p.Lys819Asn)
c.2475G>T (p.Lys825Asn)
n.450G>T
c.1938G>T (p.Lys646Asn)
c.2355G>T (p.Lys785Asn)
n.2508G>T
n.2509G>T
n.3752G>T
15g.34239095C>GCA391619380SLC12A6c.2502G>C (p.Lys834Asn)
c.2349G>C (p.Lys783Asn)
c.2325G>C (p.Lys775Asn)
c.2457G>C (p.Lys819Asn)
c.2475G>C (p.Lys825Asn)
n.450G>C
c.1938G>C (p.Lys646Asn)
c.2355G>C (p.Lys785Asn)
n.2508G>C
n.2509G>C
n.3752G>C
15g.34239095C>TCA489412627SLC12A6c.2502G>A (p.Lys834=)
c.2349G>A (p.Lys783=)
c.2325G>A (p.Lys775=)
c.2457G>A (p.Lys819=)
c.2475G>A (p.Lys825=)
n.450G>A
c.1938G>A (p.Lys646=)
c.2355G>A (p.Lys785=)
n.2508G>A
n.2509G>A
n.3752G>A
 gnomAD v4
15g.34239096T>ACA391619381SLC12A6c.2501A>T (p.Lys834Met)
c.2348A>T (p.Lys783Met)
c.2324A>T (p.Lys775Met)
c.2456A>T (p.Lys819Met)
c.2474A>T (p.Lys825Met)
n.449A>T
c.1937A>T (p.Lys646Met)
c.2354A>T (p.Lys785Met)
n.2507A>T
n.2508A>T
n.3751A>T
15g.34239096T>CCA391619382SLC12A6c.2501A>G (p.Lys834Arg)
c.2348A>G (p.Lys783Arg)
c.2324A>G (p.Lys775Arg)
c.2456A>G (p.Lys819Arg)
c.2474A>G (p.Lys825Arg)
n.449A>G
c.1937A>G (p.Lys646Arg)
c.2354A>G (p.Lys785Arg)
n.2507A>G
n.2508A>G
n.3751A>G
 dbSNP gnomAD v4
15g.34239096T>GCA391619383SLC12A6c.2501A>C (p.Lys834Thr)
c.2348A>C (p.Lys783Thr)
c.2324A>C (p.Lys775Thr)
c.2456A>C (p.Lys819Thr)
c.2474A>C (p.Lys825Thr)
n.449A>C
c.1937A>C (p.Lys646Thr)
c.2354A>C (p.Lys785Thr)
n.2507A>C
n.2508A>C
n.3751A>C
15g.34239097T>ACA391619384SLC12A6c.2500A>T (p.Lys834Ter)
c.2347A>T (p.Lys783Ter)
c.2323A>T (p.Lys775Ter)
c.2455A>T (p.Lys819Ter)
c.2473A>T (p.Lys825Ter)
n.448A>T
c.1936A>T (p.Lys646Ter)
c.2353A>T (p.Lys785Ter)
n.2506A>T
n.2507A>T
n.3750A>T
15g.34239097T>CCA391619386SLC12A6c.2500A>G (p.Lys834Glu)
c.2347A>G (p.Lys783Glu)
c.2323A>G (p.Lys775Glu)
c.2455A>G (p.Lys819Glu)
c.2473A>G (p.Lys825Glu)
n.448A>G
c.1936A>G (p.Lys646Glu)
c.2353A>G (p.Lys785Glu)
n.2506A>G
n.2507A>G
n.3750A>G
15g.34239097T>GCA391619385SLC12A6c.2500A>C (p.Lys834Gln)
c.2347A>C (p.Lys783Gln)
c.2323A>C (p.Lys775Gln)
c.2455A>C (p.Lys819Gln)
c.2473A>C (p.Lys825Gln)
n.448A>C
c.1936A>C (p.Lys646Gln)
c.2353A>C (p.Lys785Gln)
n.2506A>C
n.2507A>C
n.3750A>C
15g.34239098G>ACA7464066SLC12A6c.2499C>T (p.Ala833=)
c.2346C>T (p.Ala782=)
c.2322C>T (p.Ala774=)
c.2454C>T (p.Ala818=)
c.2472C>T (p.Ala824=)
n.447C>T
c.1935C>T (p.Ala645=)
c.2352C>T (p.Ala784=)
n.2505C>T
n.2506C>T
n.3749C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34239098G>CCA489412636SLC12A6c.2499C>G (p.Ala833=)
c.2346C>G (p.Ala782=)
c.2322C>G (p.Ala774=)
c.2454C>G (p.Ala818=)
c.2472C>G (p.Ala824=)
n.447C>G
c.1935C>G (p.Ala645=)
c.2352C>G (p.Ala784=)
n.2505C>G
n.2506C>G
n.3749C>G
15g.34239098G>TCA489412638SLC12A6c.2499C>A (p.Ala833=)
c.2346C>A (p.Ala782=)
c.2322C>A (p.Ala774=)
c.2454C>A (p.Ala818=)
c.2472C>A (p.Ala824=)
n.447C>A
c.1935C>A (p.Ala645=)
c.2352C>A (p.Ala784=)
n.2505C>A
n.2506C>A
n.3749C>A
15g.34239099G>ACA391619387SLC12A6c.2498C>T (p.Ala833Val)
c.2345C>T (p.Ala782Val)
c.2321C>T (p.Ala774Val)
c.2453C>T (p.Ala818Val)
c.2471C>T (p.Ala824Val)
n.446C>T
c.1934C>T (p.Ala645Val)
c.2351C>T (p.Ala784Val)
n.2504C>T
n.2505C>T
n.3748C>T
 gnomAD v4
15g.34239099G>CCA391619388SLC12A6c.2498C>G (p.Ala833Gly)
c.2345C>G (p.Ala782Gly)
c.2321C>G (p.Ala774Gly)
c.2453C>G (p.Ala818Gly)
c.2471C>G (p.Ala824Gly)
n.446C>G
c.1934C>G (p.Ala645Gly)
c.2351C>G (p.Ala784Gly)
n.2504C>G
n.2505C>G
n.3748C>G
15g.34239099G>TCA391619389SLC12A6c.2498C>A (p.Ala833Asp)
c.2345C>A (p.Ala782Asp)
c.2321C>A (p.Ala774Asp)
c.2453C>A (p.Ala818Asp)
c.2471C>A (p.Ala824Asp)
n.446C>A
c.1934C>A (p.Ala645Asp)
c.2351C>A (p.Ala784Asp)
n.2504C>A
n.2505C>A
n.3748C>A
15g.34239100C>ACA391619390SLC12A6c.2497G>T (p.Ala833Ser)
c.2344G>T (p.Ala782Ser)
c.2320G>T (p.Ala774Ser)
c.2452G>T (p.Ala818Ser)
c.2470G>T (p.Ala824Ser)
n.445G>T
c.1933G>T (p.Ala645Ser)
c.2350G>T (p.Ala784Ser)
n.2503G>T
n.2504G>T
n.3747G>T
15g.34239100C>GCA391619392SLC12A6c.2497G>C (p.Ala833Pro)
c.2344G>C (p.Ala782Pro)
c.2320G>C (p.Ala774Pro)
c.2452G>C (p.Ala818Pro)
c.2470G>C (p.Ala824Pro)
n.445G>C
c.1933G>C (p.Ala645Pro)
c.2350G>C (p.Ala784Pro)
n.2503G>C
n.2504G>C
n.3747G>C
15g.34239100C>TCA391619391SLC12A6c.2497G>A (p.Ala833Thr)
c.2344G>A (p.Ala782Thr)
c.2320G>A (p.Ala774Thr)
c.2452G>A (p.Ala818Thr)
c.2470G>A (p.Ala824Thr)
n.445G>A
c.1933G>A (p.Ala645Thr)
c.2350G>A (p.Ala784Thr)
n.2503G>A
n.2504G>A
n.3747G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.34239101G>ACA7464067SLC12A6c.2496C>T (p.Ala832=)
c.2343C>T (p.Ala781=)
c.2319C>T (p.Ala773=)
c.2451C>T (p.Ala817=)
c.2469C>T (p.Ala823=)
n.444C>T
c.1932C>T (p.Ala644=)
c.2349C>T (p.Ala783=)
n.2502C>T
n.2503C>T
n.3746C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34239101G>CCA489412647SLC12A6c.2496C>G (p.Ala832=)
c.2343C>G (p.Ala781=)
c.2319C>G (p.Ala773=)
c.2451C>G (p.Ala817=)
c.2469C>G (p.Ala823=)
n.444C>G
c.1932C>G (p.Ala644=)
c.2349C>G (p.Ala783=)
n.2502C>G
n.2503C>G
n.3746C>G
 ClinVar
15g.34239101G>TCA489412650SLC12A6c.2496C>A (p.Ala832=)
c.2343C>A (p.Ala781=)
c.2319C>A (p.Ala773=)
c.2451C>A (p.Ala817=)
c.2469C>A (p.Ala823=)
n.444C>A
c.1932C>A (p.Ala644=)
c.2349C>A (p.Ala783=)
n.2502C>A
n.2503C>A
n.3746C>A
15g.34239102G>ACA391619393SLC12A6c.2495C>T (p.Ala832Val)
c.2342C>T (p.Ala781Val)
c.2318C>T (p.Ala773Val)
c.2450C>T (p.Ala817Val)
c.2468C>T (p.Ala823Val)
n.443C>T
c.1931C>T (p.Ala644Val)
c.2348C>T (p.Ala783Val)
n.2501C>T
n.2502C>T
n.3745C>T
 COSMIC COSMIC COSMIC
15g.34239102G>CCA391619394SLC12A6c.2495C>G (p.Ala832Gly)
c.2342C>G (p.Ala781Gly)
c.2318C>G (p.Ala773Gly)
c.2450C>G (p.Ala817Gly)
c.2468C>G (p.Ala823Gly)
n.443C>G
c.1931C>G (p.Ala644Gly)
c.2348C>G (p.Ala783Gly)
n.2501C>G
n.2502C>G
n.3745C>G
15g.34239102G>TCA391619395SLC12A6c.2495C>A (p.Ala832Asp)
c.2342C>A (p.Ala781Asp)
c.2318C>A (p.Ala773Asp)
c.2450C>A (p.Ala817Asp)
c.2468C>A (p.Ala823Asp)
n.443C>A
c.1931C>A (p.Ala644Asp)
c.2348C>A (p.Ala783Asp)
n.2501C>A
n.2502C>A
n.3745C>A
 dbSNP gnomAD v2 gnomAD v4
15g.34239103C>ACA391619396SLC12A6c.2494G>T (p.Ala832Ser)
c.2341G>T (p.Ala781Ser)
c.2317G>T (p.Ala773Ser)
c.2449G>T (p.Ala817Ser)
c.2467G>T (p.Ala823Ser)
n.442G>T
c.1930G>T (p.Ala644Ser)
c.2347G>T (p.Ala783Ser)
n.2500G>T
n.2501G>T
n.3744G>T
15g.34239103C>GCA391619397SLC12A6c.2494G>C (p.Ala832Pro)
c.2341G>C (p.Ala781Pro)
c.2317G>C (p.Ala773Pro)
c.2449G>C (p.Ala817Pro)
c.2467G>C (p.Ala823Pro)
n.442G>C
c.1930G>C (p.Ala644Pro)
c.2347G>C (p.Ala783Pro)
n.2500G>C
n.2501G>C
n.3744G>C
15g.34239103C>TCA391619398SLC12A6c.2494G>A (p.Ala832Thr)
c.2341G>A (p.Ala781Thr)
c.2317G>A (p.Ala773Thr)
c.2449G>A (p.Ala817Thr)
c.2467G>A (p.Ala823Thr)
n.442G>A
c.1930G>A (p.Ala644Thr)
c.2347G>A (p.Ala783Thr)
n.2500G>A
n.2501G>A
n.3744G>A
 gnomAD v4
15g.34239109_34239111delCA919528404SLC12A6c.2492_2494del (p.Val831del)
c.2339_2341del (p.Val780del)
c.2315_2317del (p.Val772del)
c.2447_2449del (p.Val816del)
c.2465_2467del (p.Val822del)
n.440_442del
c.1928_1930del (p.Val643del)
c.2345_2347del (p.Val782del)
n.2498_2500del
n.2499_2501del
n.3742_3744del
 dbSNP
15g.34239104C>ACA489412659SLC12A6c.2493G>T (p.Val831=)
c.2340G>T (p.Val780=)
c.2316G>T (p.Val772=)
c.2448G>T (p.Val816=)
c.2466G>T (p.Val822=)
n.441G>T
c.1929G>T (p.Val643=)
c.2346G>T (p.Val782=)
n.2499G>T
n.2500G>T
n.3743G>T
15g.34239104C>GCA489412661SLC12A6c.2493G>C (p.Val831=)
c.2340G>C (p.Val780=)
c.2316G>C (p.Val772=)
c.2448G>C (p.Val816=)
c.2466G>C (p.Val822=)
n.441G>C
c.1929G>C (p.Val643=)
c.2346G>C (p.Val782=)
n.2499G>C
n.2500G>C
n.3743G>C
15g.34239104C>TCA489412663SLC12A6c.2493G>A (p.Val831=)
c.2340G>A (p.Val780=)
c.2316G>A (p.Val772=)
c.2448G>A (p.Val816=)
c.2466G>A (p.Val822=)
n.441G>A
c.1929G>A (p.Val643=)
c.2346G>A (p.Val782=)
n.2499G>A
n.2500G>A
n.3743G>A
 gnomAD v4
15g.34239105A>CCA391619399SLC12A6c.2492T>G (p.Val831Gly)
c.2339T>G (p.Val780Gly)
c.2315T>G (p.Val772Gly)
c.2447T>G (p.Val816Gly)
c.2465T>G (p.Val822Gly)
n.440T>G
c.1928T>G (p.Val643Gly)
c.2345T>G (p.Val782Gly)
n.2498T>G
n.2499T>G
n.3742T>G
15g.34239105A>GCA391619400SLC12A6c.2492T>C (p.Val831Ala)
c.2339T>C (p.Val780Ala)
c.2315T>C (p.Val772Ala)
c.2447T>C (p.Val816Ala)
c.2465T>C (p.Val822Ala)
n.440T>C
c.1928T>C (p.Val643Ala)
c.2345T>C (p.Val782Ala)
n.2498T>C
n.2499T>C
n.3742T>C
15g.34239105A>TCA391619401SLC12A6c.2492T>A (p.Val831Glu)
c.2339T>A (p.Val780Glu)
c.2315T>A (p.Val772Glu)
c.2447T>A (p.Val816Glu)
c.2465T>A (p.Val822Glu)
n.440T>A
c.1928T>A (p.Val643Glu)
c.2345T>A (p.Val782Glu)
n.2498T>A
n.2499T>A
n.3742T>A
15g.34239106C>ACA391619404SLC12A6c.2491G>T (p.Val831Leu)
c.2338G>T (p.Val780Leu)
c.2314G>T (p.Val772Leu)
c.2446G>T (p.Val816Leu)
c.2464G>T (p.Val822Leu)
n.439G>T
c.1927G>T (p.Val643Leu)
c.2344G>T (p.Val782Leu)
n.2497G>T
n.2498G>T
n.3741G>T
15g.34239106C>GCA391619403SLC12A6c.2491G>C (p.Val831Leu)
c.2338G>C (p.Val780Leu)
c.2314G>C (p.Val772Leu)
c.2446G>C (p.Val816Leu)
c.2464G>C (p.Val822Leu)
n.439G>C
c.1927G>C (p.Val643Leu)
c.2344G>C (p.Val782Leu)
n.2497G>C
n.2498G>C
n.3741G>C
15g.34239106C>TCA391619402SLC12A6c.2491G>A (p.Val831Met)
c.2338G>A (p.Val780Met)
c.2314G>A (p.Val772Met)
c.2446G>A (p.Val816Met)
c.2464G>A (p.Val822Met)
n.439G>A
c.1927G>A (p.Val643Met)
c.2344G>A (p.Val782Met)
n.2497G>A
n.2498G>A
n.3741G>A
15g.34239107C>ACA489412672SLC12A6c.2490G>T (p.Val830=)
c.2337G>T (p.Val779=)
c.2313G>T (p.Val771=)
c.2445G>T (p.Val815=)
c.2463G>T (p.Val821=)
n.438G>T
c.1926G>T (p.Val642=)
c.2343G>T (p.Val781=)
n.2496G>T
n.2497G>T
n.3740G>T
15g.34239107C>GCA489412675SLC12A6c.2490G>C (p.Val830=)
c.2337G>C (p.Val779=)
c.2313G>C (p.Val771=)
c.2445G>C (p.Val815=)
c.2463G>C (p.Val821=)
n.438G>C
c.1926G>C (p.Val642=)
c.2343G>C (p.Val781=)
n.2496G>C
n.2497G>C
n.3740G>C

Number of alleles fetched