Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.34240674_34240677dup | CA2627635933 | SLC12A6 | c.2420_2423dup (p.Leu808PhefsTer5) c.2267_2270dup (p.Leu757PhefsTer5) c.2243_2246dup (p.Leu749PhefsTer5) c.2375_2378dup (p.Leu793PhefsTer5) c.2393_2396dup (p.Leu799PhefsTer5) n.368_371dup c.1856_1859dup (p.Leu620PhefsTer5) c.2273_2276dup (p.Leu759PhefsTer5) n.2426_2429dup n.2427_2430dup n.3670_3673dup | gnomAD v4 |
15 | g.34240677G>A | CA391619575 | SLC12A6 | c.2420C>T (p.Ala807Val) c.2267C>T (p.Ala756Val) c.2243C>T (p.Ala748Val) c.2375C>T (p.Ala792Val) c.2393C>T (p.Ala798Val) n.368C>T c.1856C>T (p.Ala619Val) c.2273C>T (p.Ala758Val) n.2426C>T n.2427C>T n.3670C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34240677G>C | CA391619574 | SLC12A6 | c.2420C>G (p.Ala807Gly) c.2267C>G (p.Ala756Gly) c.2243C>G (p.Ala748Gly) c.2375C>G (p.Ala792Gly) c.2393C>G (p.Ala798Gly) n.368C>G c.1856C>G (p.Ala619Gly) c.2273C>G (p.Ala758Gly) n.2426C>G n.2427C>G n.3670C>G | gnomAD v4 |
15 | g.34240677G>T | CA391619573 | SLC12A6 | c.2420C>A (p.Ala807Asp) c.2267C>A (p.Ala756Asp) c.2243C>A (p.Ala748Asp) c.2375C>A (p.Ala792Asp) c.2393C>A (p.Ala798Asp) n.368C>A c.1856C>A (p.Ala619Asp) c.2273C>A (p.Ala758Asp) n.2426C>A n.2427C>A n.3670C>A | |
15 | g.34240678C>A | CA391619577 | SLC12A6 | c.2419G>T (p.Ala807Ser) c.2266G>T (p.Ala756Ser) c.2242G>T (p.Ala748Ser) c.2374G>T (p.Ala792Ser) c.2392G>T (p.Ala798Ser) n.367G>T c.1855G>T (p.Ala619Ser) c.2272G>T (p.Ala758Ser) n.2425G>T n.2426G>T n.3669G>T | |
15 | g.34240678C>G | CA391619576 | SLC12A6 | c.2419G>C (p.Ala807Pro) c.2266G>C (p.Ala756Pro) c.2242G>C (p.Ala748Pro) c.2374G>C (p.Ala792Pro) c.2392G>C (p.Ala798Pro) n.367G>C c.1855G>C (p.Ala619Pro) c.2272G>C (p.Ala758Pro) n.2425G>C n.2426G>C n.3669G>C | |
15 | g.34240678C>T | CA7464092 | SLC12A6 | c.2419G>A (p.Ala807Thr) c.2266G>A (p.Ala756Thr) c.2242G>A (p.Ala748Thr) c.2374G>A (p.Ala792Thr) c.2392G>A (p.Ala798Thr) n.367G>A c.1855G>A (p.Ala619Thr) c.2272G>A (p.Ala758Thr) n.2425G>A n.2426G>A n.3669G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34240679T>A | CA391619578 | SLC12A6 | c.2418A>T (p.Glu806Asp) c.2265A>T (p.Glu755Asp) c.2241A>T (p.Glu747Asp) c.2373A>T (p.Glu791Asp) c.2391A>T (p.Glu797Asp) n.366A>T c.1854A>T (p.Glu618Asp) c.2271A>T (p.Glu757Asp) n.2424A>T n.2425A>T n.3668A>T | |
15 | g.34240679T>C | CA489413329 | SLC12A6 | c.2418A>G (p.Glu806=) c.2265A>G (p.Glu755=) c.2241A>G (p.Glu747=) c.2373A>G (p.Glu791=) c.2391A>G (p.Glu797=) n.366A>G c.1854A>G (p.Glu618=) c.2271A>G (p.Glu757=) n.2424A>G n.2425A>G n.3668A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34240679T>G | CA391619579 | SLC12A6 | c.2418A>C (p.Glu806Asp) c.2265A>C (p.Glu755Asp) c.2241A>C (p.Glu747Asp) c.2373A>C (p.Glu791Asp) c.2391A>C (p.Glu797Asp) n.366A>C c.1854A>C (p.Glu618Asp) c.2271A>C (p.Glu757Asp) n.2424A>C n.2425A>C n.3668A>C | |
15 | g.34240680T>A | CA391619580 | SLC12A6 | c.2417A>T (p.Glu806Val) c.2264A>T (p.Glu755Val) c.2240A>T (p.Glu747Val) c.2372A>T (p.Glu791Val) c.2390A>T (p.Glu797Val) n.365A>T c.1853A>T (p.Glu618Val) c.2270A>T (p.Glu757Val) n.2423A>T n.2424A>T n.3667A>T | |
15 | g.34240680T>C | CA391619582 | SLC12A6 | c.2417A>G (p.Glu806Gly) c.2264A>G (p.Glu755Gly) c.2240A>G (p.Glu747Gly) c.2372A>G (p.Glu791Gly) c.2390A>G (p.Glu797Gly) n.365A>G c.1853A>G (p.Glu618Gly) c.2270A>G (p.Glu757Gly) n.2423A>G n.2424A>G n.3667A>G | |
15 | g.34240680T>G | CA391619581 | SLC12A6 | c.2417A>C (p.Glu806Ala) c.2264A>C (p.Glu755Ala) c.2240A>C (p.Glu747Ala) c.2372A>C (p.Glu791Ala) c.2390A>C (p.Glu797Ala) n.365A>C c.1853A>C (p.Glu618Ala) c.2270A>C (p.Glu757Ala) n.2423A>C n.2424A>C n.3667A>C | |
15 | g.34240681C>A | CA16041722 | SLC12A6 | c.2416G>T (p.Glu806Ter) c.2263G>T (p.Glu755Ter) c.2239G>T (p.Glu747Ter) c.2371G>T (p.Glu791Ter) c.2389G>T (p.Glu797Ter) n.364G>T c.1852G>T (p.Glu618Ter) c.2269G>T (p.Glu757Ter) n.2422G>T n.2423G>T n.3666G>T | ClinVar dbSNP |
15 | g.34240681C>G | CA391619583 | SLC12A6 | c.2416G>C (p.Glu806Gln) c.2263G>C (p.Glu755Gln) c.2239G>C (p.Glu747Gln) c.2371G>C (p.Glu791Gln) c.2389G>C (p.Glu797Gln) n.364G>C c.1852G>C (p.Glu618Gln) c.2269G>C (p.Glu757Gln) n.2422G>C n.2423G>C n.3666G>C | |
15 | g.34240681C>T | CA391619584 | SLC12A6 | c.2416G>A (p.Glu806Lys) c.2263G>A (p.Glu755Lys) c.2239G>A (p.Glu747Lys) c.2371G>A (p.Glu791Lys) c.2389G>A (p.Glu797Lys) n.364G>A c.1852G>A (p.Glu618Lys) c.2269G>A (p.Glu757Lys) n.2422G>A n.2423G>A n.3666G>A | |
15 | g.34240682A>C | CA489413341 | SLC12A6 | c.2415T>G (p.Gly805=) c.2262T>G (p.Gly754=) c.2238T>G (p.Gly746=) c.2370T>G (p.Gly790=) c.2388T>G (p.Gly796=) n.363T>G c.1851T>G (p.Gly617=) c.2268T>G (p.Gly756=) n.2421T>G n.2422T>G n.3665T>G | |
15 | g.34240682A>G | CA489413339 | SLC12A6 | c.2415T>C (p.Gly805=) c.2262T>C (p.Gly754=) c.2238T>C (p.Gly746=) c.2370T>C (p.Gly790=) c.2388T>C (p.Gly796=) n.363T>C c.1851T>C (p.Gly617=) c.2268T>C (p.Gly756=) n.2421T>C n.2422T>C n.3665T>C | |
15 | g.34240682A>T | CA489413342 | SLC12A6 | c.2415T>A (p.Gly805=) c.2262T>A (p.Gly754=) c.2238T>A (p.Gly746=) c.2370T>A (p.Gly790=) c.2388T>A (p.Gly796=) n.363T>A c.1851T>A (p.Gly617=) c.2268T>A (p.Gly756=) n.2421T>A n.2422T>A n.3665T>A | |
15 | g.34240683C>A | CA391619585 | SLC12A6 | c.2414G>T (p.Gly805Val) c.2261G>T (p.Gly754Val) c.2237G>T (p.Gly746Val) c.2369G>T (p.Gly790Val) c.2387G>T (p.Gly796Val) n.362G>T c.1850G>T (p.Gly617Val) c.2267G>T (p.Gly756Val) n.2420G>T n.2421G>T n.3664G>T | |
15 | g.34240683C>G | CA391619586 | SLC12A6 | c.2414G>C (p.Gly805Ala) c.2261G>C (p.Gly754Ala) c.2237G>C (p.Gly746Ala) c.2369G>C (p.Gly790Ala) c.2387G>C (p.Gly796Ala) n.362G>C c.1850G>C (p.Gly617Ala) c.2267G>C (p.Gly756Ala) n.2420G>C n.2421G>C n.3664G>C | |
15 | g.34240683C>T | CA391619587 | SLC12A6 | c.2414G>A (p.Gly805Asp) c.2261G>A (p.Gly754Asp) c.2237G>A (p.Gly746Asp) c.2369G>A (p.Gly790Asp) c.2387G>A (p.Gly796Asp) n.362G>A c.1850G>A (p.Gly617Asp) c.2267G>A (p.Gly756Asp) n.2420G>A n.2421G>A n.3664G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.34240684C>A | CA391619588 | SLC12A6 | c.2413G>T (p.Gly805Cys) c.2260G>T (p.Gly754Cys) c.2236G>T (p.Gly746Cys) c.2368G>T (p.Gly790Cys) c.2386G>T (p.Gly796Cys) n.361G>T c.1849G>T (p.Gly617Cys) c.2266G>T (p.Gly756Cys) n.2419G>T n.2420G>T n.3663G>T | |
15 | g.34240684C>G | CA391619589 | SLC12A6 | c.2413G>C (p.Gly805Arg) c.2260G>C (p.Gly754Arg) c.2236G>C (p.Gly746Arg) c.2368G>C (p.Gly790Arg) c.2386G>C (p.Gly796Arg) n.361G>C c.1849G>C (p.Gly617Arg) c.2266G>C (p.Gly756Arg) n.2419G>C n.2420G>C n.3663G>C | |
15 | g.34240684C>T | CA268662400 | SLC12A6 | c.2413G>A (p.Gly805Ser) c.2260G>A (p.Gly754Ser) c.2236G>A (p.Gly746Ser) c.2368G>A (p.Gly790Ser) c.2386G>A (p.Gly796Ser) n.361G>A c.1849G>A (p.Gly617Ser) c.2266G>A (p.Gly756Ser) n.2419G>A n.2420G>A n.3663G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34240685G>A | CA7464093 | SLC12A6 | c.2412C>T (p.Tyr804=) c.2259C>T (p.Tyr753=) c.2235C>T (p.Tyr745=) c.2367C>T (p.Tyr789=) c.2385C>T (p.Tyr795=) n.360C>T c.1848C>T (p.Tyr616=) c.2265C>T (p.Tyr755=) n.2418C>T n.2419C>T n.3662C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34240685G>C | CA391619590 | SLC12A6 | c.2412C>G (p.Tyr804Ter) c.2259C>G (p.Tyr753Ter) c.2235C>G (p.Tyr745Ter) c.2367C>G (p.Tyr789Ter) c.2385C>G (p.Tyr795Ter) n.360C>G c.1848C>G (p.Tyr616Ter) c.2265C>G (p.Tyr755Ter) n.2418C>G n.2419C>G n.3662C>G | |
15 | g.34240685G>T | CA391619591 | SLC12A6 | c.2412C>A (p.Tyr804Ter) c.2259C>A (p.Tyr753Ter) c.2235C>A (p.Tyr745Ter) c.2367C>A (p.Tyr789Ter) c.2385C>A (p.Tyr795Ter) n.360C>A c.1848C>A (p.Tyr616Ter) c.2265C>A (p.Tyr755Ter) n.2418C>A n.2419C>A n.3662C>A | |
15 | g.34240686T>A | CA391619594 | SLC12A6 | c.2411A>T (p.Tyr804Phe) c.2258A>T (p.Tyr753Phe) c.2234A>T (p.Tyr745Phe) c.2366A>T (p.Tyr789Phe) c.2384A>T (p.Tyr795Phe) n.359A>T c.1847A>T (p.Tyr616Phe) c.2264A>T (p.Tyr755Phe) n.2417A>T n.2418A>T n.3661A>T | |
15 | g.34240686T>C | CA391619592 | SLC12A6 | c.2411A>G (p.Tyr804Cys) c.2258A>G (p.Tyr753Cys) c.2234A>G (p.Tyr745Cys) c.2366A>G (p.Tyr789Cys) c.2384A>G (p.Tyr795Cys) n.359A>G c.1847A>G (p.Tyr616Cys) c.2264A>G (p.Tyr755Cys) n.2417A>G n.2418A>G n.3661A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.34240686T>G | CA391619593 | SLC12A6 | c.2411A>C (p.Tyr804Ser) c.2258A>C (p.Tyr753Ser) c.2234A>C (p.Tyr745Ser) c.2366A>C (p.Tyr789Ser) c.2384A>C (p.Tyr795Ser) n.359A>C c.1847A>C (p.Tyr616Ser) c.2264A>C (p.Tyr755Ser) n.2417A>C n.2418A>C n.3661A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34240687A>C | CA391619595 | SLC12A6 | c.2410T>G (p.Tyr804Asp) c.2257T>G (p.Tyr753Asp) c.2233T>G (p.Tyr745Asp) c.2365T>G (p.Tyr789Asp) c.2383T>G (p.Tyr795Asp) n.358T>G c.1846T>G (p.Tyr616Asp) c.2263T>G (p.Tyr755Asp) n.2416T>G n.2417T>G n.3660T>G | |
15 | g.34240687A>G | CA391619596 | SLC12A6 | c.2410T>C (p.Tyr804His) c.2257T>C (p.Tyr753His) c.2233T>C (p.Tyr745His) c.2365T>C (p.Tyr789His) c.2383T>C (p.Tyr795His) n.358T>C c.1846T>C (p.Tyr616His) c.2263T>C (p.Tyr755His) n.2416T>C n.2417T>C n.3660T>C | |
15 | g.34240687A>T | CA391619597 | SLC12A6 | c.2410T>A (p.Tyr804Asn) c.2257T>A (p.Tyr753Asn) c.2233T>A (p.Tyr745Asn) c.2365T>A (p.Tyr789Asn) c.2383T>A (p.Tyr795Asn) n.358T>A c.1846T>A (p.Tyr616Asn) c.2263T>A (p.Tyr755Asn) n.2416T>A n.2417T>A n.3660T>A | |
15 | g.34240688G>A | CA7464094 | SLC12A6 | c.2409C>T (p.Asn803=) c.2256C>T (p.Asn752=) c.2232C>T (p.Asn744=) c.2364C>T (p.Asn788=) c.2382C>T (p.Asn794=) n.357C>T c.1845C>T (p.Asn615=) c.2262C>T (p.Asn754=) n.2415C>T n.2416C>T n.3659C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.34240688G>C | CA391619598 | SLC12A6 | c.2409C>G (p.Asn803Lys) c.2256C>G (p.Asn752Lys) c.2232C>G (p.Asn744Lys) c.2364C>G (p.Asn788Lys) c.2382C>G (p.Asn794Lys) n.357C>G c.1845C>G (p.Asn615Lys) c.2262C>G (p.Asn754Lys) n.2415C>G n.2416C>G n.3659C>G | |
15 | g.34240688G>T | CA391619599 | SLC12A6 | c.2409C>A (p.Asn803Lys) c.2256C>A (p.Asn752Lys) c.2232C>A (p.Asn744Lys) c.2364C>A (p.Asn788Lys) c.2382C>A (p.Asn794Lys) n.357C>A c.1845C>A (p.Asn615Lys) c.2262C>A (p.Asn754Lys) n.2415C>A n.2416C>A n.3659C>A | |
15 | g.34240689T>A | CA391619600 | SLC12A6 | c.2408A>T (p.Asn803Ile) c.2255A>T (p.Asn752Ile) c.2231A>T (p.Asn744Ile) c.2363A>T (p.Asn788Ile) c.2381A>T (p.Asn794Ile) n.356A>T c.1844A>T (p.Asn615Ile) c.2261A>T (p.Asn754Ile) n.2414A>T n.2415A>T n.3658A>T | |
15 | g.34240689T>C | CA391619601 | SLC12A6 | c.2408A>G (p.Asn803Ser) c.2255A>G (p.Asn752Ser) c.2231A>G (p.Asn744Ser) c.2363A>G (p.Asn788Ser) c.2381A>G (p.Asn794Ser) n.356A>G c.1844A>G (p.Asn615Ser) c.2261A>G (p.Asn754Ser) n.2414A>G n.2415A>G n.3658A>G | |
15 | g.34240689T>G | CA391619602 | SLC12A6 | c.2408A>C (p.Asn803Thr) c.2255A>C (p.Asn752Thr) c.2231A>C (p.Asn744Thr) c.2363A>C (p.Asn788Thr) c.2381A>C (p.Asn794Thr) n.356A>C c.1844A>C (p.Asn615Thr) c.2261A>C (p.Asn754Thr) n.2414A>C n.2415A>C n.3658A>C | gnomAD v4 |
15 | g.34240690T>A | CA391619603 | SLC12A6 | c.2407A>T (p.Asn803Tyr) c.2254A>T (p.Asn752Tyr) c.2230A>T (p.Asn744Tyr) c.2362A>T (p.Asn788Tyr) c.2380A>T (p.Asn794Tyr) n.355A>T c.1843A>T (p.Asn615Tyr) c.2260A>T (p.Asn754Tyr) n.2413A>T n.2414A>T n.3657A>T | |
15 | g.34240690T>C | CA391619604 | SLC12A6 | c.2407A>G (p.Asn803Asp) c.2254A>G (p.Asn752Asp) c.2230A>G (p.Asn744Asp) c.2362A>G (p.Asn788Asp) c.2380A>G (p.Asn794Asp) n.355A>G c.1843A>G (p.Asn615Asp) c.2260A>G (p.Asn754Asp) n.2413A>G n.2414A>G n.3657A>G | |
15 | g.34240690T>G | CA391619605 | SLC12A6 | c.2407A>C (p.Asn803His) c.2254A>C (p.Asn752His) c.2230A>C (p.Asn744His) c.2362A>C (p.Asn788His) c.2380A>C (p.Asn794His) n.355A>C c.1843A>C (p.Asn615His) c.2260A>C (p.Asn754His) n.2413A>C n.2414A>C n.3657A>C | |
15 | g.34240691C>A | CA391619606 | SLC12A6 | c.2406G>T (p.Glu802Asp) c.2253G>T (p.Glu751Asp) c.2229G>T (p.Glu743Asp) c.2361G>T (p.Glu787Asp) c.2379G>T (p.Glu793Asp) n.354G>T c.1842G>T (p.Glu614Asp) c.2259G>T (p.Glu753Asp) n.2412G>T n.2413G>T n.3656G>T | |
15 | g.34240691C>G | CA391619607 | SLC12A6 | c.2406G>C (p.Glu802Asp) c.2253G>C (p.Glu751Asp) c.2229G>C (p.Glu743Asp) c.2361G>C (p.Glu787Asp) c.2379G>C (p.Glu793Asp) n.354G>C c.1842G>C (p.Glu614Asp) c.2259G>C (p.Glu753Asp) n.2412G>C n.2413G>C n.3656G>C | |
15 | g.34240691C>T | CA489413364 | SLC12A6 | c.2406G>A (p.Glu802=) c.2253G>A (p.Glu751=) c.2229G>A (p.Glu743=) c.2361G>A (p.Glu787=) c.2379G>A (p.Glu793=) n.354G>A c.1842G>A (p.Glu614=) c.2259G>A (p.Glu753=) n.2412G>A n.2413G>A n.3656G>A | |
15 | g.34240692T>A | CA391619608 | SLC12A6 | c.2405A>T (p.Glu802Val) c.2252A>T (p.Glu751Val) c.2228A>T (p.Glu743Val) c.2360A>T (p.Glu787Val) c.2378A>T (p.Glu793Val) n.353A>T c.1841A>T (p.Glu614Val) c.2258A>T (p.Glu753Val) n.2411A>T n.2412A>T n.3655A>T | |
15 | g.34240692T>C | CA391619609 | SLC12A6 | c.2405A>G (p.Glu802Gly) c.2252A>G (p.Glu751Gly) c.2228A>G (p.Glu743Gly) c.2360A>G (p.Glu787Gly) c.2378A>G (p.Glu793Gly) n.353A>G c.1841A>G (p.Glu614Gly) c.2258A>G (p.Glu753Gly) n.2411A>G n.2412A>G n.3655A>G | dbSNP |
15 | g.34240692T>G | CA391619610 | SLC12A6 | c.2405A>C (p.Glu802Ala) c.2252A>C (p.Glu751Ala) c.2228A>C (p.Glu743Ala) c.2360A>C (p.Glu787Ala) c.2378A>C (p.Glu793Ala) n.353A>C c.1841A>C (p.Glu614Ala) c.2258A>C (p.Glu753Ala) n.2411A>C n.2412A>C n.3655A>C | gnomAD v4 |
15 | g.34240693C>A | CA391619611 | SLC12A6 | c.2404G>T (p.Glu802Ter) c.2251G>T (p.Glu751Ter) c.2227G>T (p.Glu743Ter) c.2359G>T (p.Glu787Ter) c.2377G>T (p.Glu793Ter) n.352G>T c.1840G>T (p.Glu614Ter) c.2257G>T (p.Glu753Ter) n.2410G>T n.2411G>T n.3654G>T |