Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56887984G>A | CA395994783 | SLC12A3 | c.2238G>A (p.Trp746Ter) c.2235G>A (p.Trp745Ter) | ClinVar |
16 | g.56887984G>C | CA395994784 | SLC12A3 | c.2238G>C (p.Trp746Cys) c.2235G>C (p.Trp745Cys) | |
16 | g.56887984G= | CA2224358086 | SLC12A3 | c.2238G= (p.Trp746=) c.2235G= (p.Trp745=) | |
16 | g.56887984G>T | CA395994786 | SLC12A3 | c.2238G>T (p.Trp746Cys) c.2235G>T (p.Trp745Cys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56887985C>A | CA395994792 | SLC12A3 | c.2239C>A (p.Gln747Lys) c.2236C>A (p.Gln746Lys) | |
16 | g.56887985C= | CA2224358087 | SLC12A3 | c.2239C= (p.Gln747=) c.2236C= (p.Gln746=) | |
16 | g.56887985C>G | CA395994790 | SLC12A3 | c.2239C>G (p.Gln747Glu) c.2236C>G (p.Gln746Glu) | |
16 | g.56887985C>T | CA395994789 | SLC12A3 | c.2239C>T (p.Gln747Ter) c.2236C>T (p.Gln746Ter) | ClinVar dbSNP |
16 | g.56887986A= | CA2224358088 | SLC12A3 | c.2240A= (p.Gln747=) c.2237A= (p.Gln746=) | |
16 | g.56887986A>C | CA395994795 | SLC12A3 | c.2240A>C (p.Gln747Pro) c.2237A>C (p.Gln746Pro) | |
16 | g.56887986A>G | CA395994797 | SLC12A3 | c.2240A>G (p.Gln747Arg) c.2237A>G (p.Gln746Arg) | dbSNP |
16 | g.56887986A>T | CA8069796 | SLC12A3 | c.2240A>T (p.Gln747Leu) c.2237A>T (p.Gln746Leu) | dbSNP ExAC gnomAD v2 |
16 | g.56887987G>A | CA495607816 | SLC12A3 | c.2241G>A (p.Gln747=) c.2238G>A (p.Gln746=) | COSMIC |
16 | g.56887987G>C | CA395994800 | SLC12A3 | c.2241G>C (p.Gln747His) c.2238G>C (p.Gln746His) | |
16 | g.56887987G= | CA2224358089 | SLC12A3 | c.2241G= (p.Gln747=) c.2238G= (p.Gln746=) | |
16 | g.56887987G>T | CA395994801 | SLC12A3 | c.2241G>T (p.Gln747His) c.2238G>T (p.Gln746His) | dbSNP |
16 | g.56887988T>A | CA395994803 | SLC12A3 | c.2242T>A (p.Ser748Thr) c.2239T>A (p.Ser747Thr) | |
16 | g.56887988T>C | CA395994805 | SLC12A3 | c.2242T>C (p.Ser748Pro) c.2239T>C (p.Ser747Pro) | |
16 | g.56887988T>G | CA395994806 | SLC12A3 | c.2242T>G (p.Ser748Ala) c.2239T>G (p.Ser747Ala) | |
16 | g.56887989C>A | CA395994808 | SLC12A3 | c.2243C>A (p.Ser748Ter) c.2240C>A (p.Ser747Ter) | |
16 | g.56887989C= | CA2224358090 | SLC12A3 | c.2243C= (p.Ser748=) c.2240C= (p.Ser747=) | |
16 | g.56887989C>G | CA395994810 | SLC12A3 | c.2243C>G (p.Ser748Trp) c.2240C>G (p.Ser747Trp) | |
16 | g.56887989C>T | CA8069797 | SLC12A3 | c.2243C>T (p.Ser748Leu) c.2240C>T (p.Ser747Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887990G>A | CA8069798 | SLC12A3 | c.2244G>A (p.Ser748=) c.2241G>A (p.Ser747=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887990G>C | CA495607829 | SLC12A3 | c.2244G>C (p.Ser748=) c.2241G>C (p.Ser747=) | |
16 | g.56887990G= | CA2224358091 | SLC12A3 | c.2244G= (p.Ser748=) c.2241G= (p.Ser747=) | |
16 | g.56887990G>T | CA495607831 | SLC12A3 | c.2244G>T (p.Ser748=) c.2241G>T (p.Ser747=) | ClinVar dbSNP |
16 | g.56887991G>A | CA395994818 | SLC12A3 | c.2245G>A (p.Ala749Thr) c.2242G>A (p.Ala748Thr) | COSMIC |
16 | g.56887991G>C | CA395994816 | SLC12A3 | c.2245G>C (p.Ala749Pro) c.2242G>C (p.Ala748Pro) | |
16 | g.56887991G>T | CA395994814 | SLC12A3 | c.2245G>T (p.Ala749Ser) c.2242G>T (p.Ala748Ser) | gnomAD v4 |
16 | g.56887992C>A | CA395994824 | SLC12A3 | c.2246C>A (p.Ala749Asp) c.2243C>A (p.Ala748Asp) | |
16 | g.56887992C>G | CA395994820 | SLC12A3 | c.2246C>G (p.Ala749Gly) c.2243C>G (p.Ala748Gly) | |
16 | g.56887992C>T | CA395994822 | SLC12A3 | c.2246C>T (p.Ala749Val) c.2243C>T (p.Ala748Val) | |
16 | g.56887993T>A | CA495607842 | SLC12A3 | c.2247T>A (p.Ala749=) c.2244T>A (p.Ala748=) | |
16 | g.56887993T>C | CA495607843 | SLC12A3 | c.2247T>C (p.Ala749=) c.2244T>C (p.Ala748=) | |
16 | g.56887993T>G | CA495607845 | SLC12A3 | c.2247T>G (p.Ala749=) c.2244T>G (p.Ala748=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56887993T= | CA2224358092 | SLC12A3 | c.2247T= (p.Ala749=) c.2244T= (p.Ala748=) | |
16 | g.56887994C>A | CA395994826 | SLC12A3 | c.2248C>A (p.His750Asn) c.2245C>A (p.His749Asn) | dbSNP |
16 | g.56887994C= | CA2224358093 | SLC12A3 | c.2248C= (p.His750=) c.2245C= (p.His749=) | |
16 | g.56887994C>G | CA395994828 | SLC12A3 | c.2248C>G (p.His750Asp) c.2245C>G (p.His749Asp) | |
16 | g.56887994C>T | CA8069799 | SLC12A3 | c.2248C>T (p.His750Tyr) c.2245C>T (p.His749Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56887995A>C | CA395994831 | SLC12A3 | c.2249A>C (p.His750Pro) c.2246A>C (p.His749Pro) | |
16 | g.56887995A>G | CA395994833 | SLC12A3 | c.2249A>G (p.His750Arg) c.2246A>G (p.His749Arg) | |
16 | g.56887995A>T | CA395994835 | SLC12A3 | c.2249A>T (p.His750Leu) c.2246A>T (p.His749Leu) | |
16 | g.56887996C>A | CA395994837 | SLC12A3 | c.2250C>A (p.His750Gln) c.2247C>A (p.His749Gln) | |
16 | g.56887996C= | CA2224358094 | SLC12A3 | c.2250C= (p.His750=) c.2247C= (p.His749=) | |
16 | g.56887996C>G | CA395994839 | SLC12A3 | c.2250C>G (p.His750Gln) c.2247C>G (p.His749Gln) | |
16 | g.56887996C>T | CA495607854 | SLC12A3 | c.2250C>T (p.His750=) c.2247C>T (p.His749=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56887997C>A | CA395994841 | SLC12A3 | c.2251C>A (p.Pro751Thr) c.2248C>A (p.Pro750Thr) | |
16 | g.56887997C>G | CA395994843 | SLC12A3 | c.2251C>G (p.Pro751Ala) c.2248C>G (p.Pro750Ala) | |
16 | g.56887997C>T | CA395994844 | SLC12A3 | c.2251C>T (p.Pro751Ser) c.2248C>T (p.Pro750Ser) | |
16 | g.56887998C>A | CA395994848 | SLC12A3 | c.2252C>A (p.Pro751Gln) c.2249C>A (p.Pro750Gln) | |
16 | g.56887998C= | CA2224358095 | SLC12A3 | c.2252C= (p.Pro751=) c.2249C= (p.Pro750=) | |
16 | g.56887998C>G | CA395994846 | SLC12A3 | c.2252C>G (p.Pro751Arg) c.2249C>G (p.Pro750Arg) | |
16 | g.56887998C>T | CA8069800 | SLC12A3 | c.2252C>T (p.Pro751Leu) c.2249C>T (p.Pro750Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887999G>A | CA8069801 | SLC12A3 | c.2253G>A (p.Pro751=) c.2250G>A (p.Pro750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56887999G>C | CA281510107 | SLC12A3 | c.2253G>C (p.Pro751=) c.2250G>C (p.Pro750=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56887999G= | CA2224358096 | SLC12A3 | c.2253G= (p.Pro751=) c.2250G= (p.Pro750=) | |
16 | g.56887999G>T | CA495607871 | SLC12A3 | c.2253G>T (p.Pro751=) c.2250G>T (p.Pro750=) | |
16 | g.56888000G>A | CA395994851 | SLC12A3 | c.2254G>A (p.Ala752Thr) c.2251G>A (p.Ala751Thr) | |
16 | g.56888000G>C | CA395994853 | SLC12A3 | c.2254G>C (p.Ala752Pro) c.2251G>C (p.Ala751Pro) | |
16 | g.56888000G>T | CA395994855 | SLC12A3 | c.2254G>T (p.Ala752Ser) c.2251G>T (p.Ala751Ser) | |
16 | g.56888001C>A | CA395994857 | SLC12A3 | c.2255C>A (p.Ala752Asp) c.2252C>A (p.Ala751Asp) | |
16 | g.56888001C>G | CA395994859 | SLC12A3 | c.2255C>G (p.Ala752Gly) c.2252C>G (p.Ala751Gly) | |
16 | g.56888001C>T | CA395994861 | SLC12A3 | c.2255C>T (p.Ala752Val) c.2252C>T (p.Ala751Val) | |
16 | g.56888002C>A | CA495607883 | SLC12A3 | c.2256C>A (p.Ala752=) c.2253C>A (p.Ala751=) | |
16 | g.56888002C>G | CA495607886 | SLC12A3 | c.2256C>G (p.Ala752=) c.2253C>G (p.Ala751=) | |
16 | g.56888002C>T | CA495607889 | SLC12A3 | c.2256C>T (p.Ala752=) c.2253C>T (p.Ala751=) | |
16 | g.56888003A>C | CA395994863 | SLC12A3 | c.2257A>C (p.Thr753Pro) c.2254A>C (p.Thr752Pro) | |
16 | g.56888003A>G | CA395994865 | SLC12A3 | c.2257A>G (p.Thr753Ala) c.2254A>G (p.Thr752Ala) | |
16 | g.56888003A>T | CA395994867 | SLC12A3 | c.2257A>T (p.Thr753Ser) c.2254A>T (p.Thr752Ser) | |
16 | g.56888004C>A | CA395994869 | SLC12A3 | c.2258C>A (p.Thr753Lys) c.2255C>A (p.Thr752Lys) | gnomAD v4 |
16 | g.56888004C>G | CA395994871 | SLC12A3 | c.2258C>G (p.Thr753Arg) c.2255C>G (p.Thr752Arg) | |
16 | g.56888004C>T | CA395994873 | SLC12A3 | c.2258C>T (p.Thr753Ile) c.2255C>T (p.Thr752Ile) | |
16 | g.56888005A= | CA2224358097 | SLC12A3 | c.2259A= (p.Thr753=) c.2256A= (p.Thr752=) | |
16 | g.56888005A>C | CA495607907 | SLC12A3 | c.2259A>C (p.Thr753=) c.2256A>C (p.Thr752=) | ClinVar dbSNP |
16 | g.56888005A>G | CA281510112 | SLC12A3 | c.2259A>G (p.Thr753=) c.2256A>G (p.Thr752=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56888005A>T | CA495607911 | SLC12A3 | c.2259A>T (p.Thr753=) c.2256A>T (p.Thr752=) | |
16 | g.56888006G>A | CA395994875 | SLC12A3 | c.2260G>A (p.Val754Met) c.2257G>A (p.Val753Met) | |
16 | g.56888006G>C | CA395994876 | SLC12A3 | c.2260G>C (p.Val754Leu) c.2257G>C (p.Val753Leu) | |
16 | g.56888006G>T | CA395994874 | SLC12A3 | c.2260G>T (p.Val754Leu) c.2257G>T (p.Val753Leu) | COSMIC |
16 | g.56888007T>A | CA395994877 | SLC12A3 | c.2261T>A (p.Val754Glu) c.2258T>A (p.Val753Glu) | |
16 | g.56888007T>C | CA395994879 | SLC12A3 | c.2261T>C (p.Val754Ala) c.2258T>C (p.Val753Ala) | gnomAD v4 |
16 | g.56888007T>G | CA395994878 | SLC12A3 | c.2261T>G (p.Val754Gly) c.2258T>G (p.Val753Gly) | |
16 | g.56888008G>A | CA8069802 | SLC12A3 | c.2262G>A (p.Val754=) c.2259G>A (p.Val753=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56888008G>C | CA495607923 | SLC12A3 | c.2262G>C (p.Val754=) c.2259G>C (p.Val753=) | |
16 | g.56888008G= | CA2224358098 | SLC12A3 | c.2262G= (p.Val754=) c.2259G= (p.Val753=) | |
16 | g.56888008G>T | CA495607926 | SLC12A3 | c.2262G>T (p.Val754=) c.2259G>T (p.Val753=) | |
16 | g.56888009G>A | CA395994880 | SLC12A3 | c.2263G>A (p.Glu755Lys) c.2260G>A (p.Glu754Lys) | gnomAD v4 COSMIC |
16 | g.56888009G>C | CA395994881 | SLC12A3 | c.2263G>C (p.Glu755Gln) c.2260G>C (p.Glu754Gln) | |
16 | g.56888009G>T | CA395994882 | SLC12A3 | c.2263G>T (p.Glu755Ter) c.2260G>T (p.Glu754Ter) | |
16 | g.56888010A>C | CA395994883 | SLC12A3 | c.2264A>C (p.Glu755Ala) c.2261A>C (p.Glu754Ala) | |
16 | g.56888010A>G | CA395994884 | SLC12A3 | c.2264A>G (p.Glu755Gly) c.2261A>G (p.Glu754Gly) | |
16 | g.56888010A>T | CA395994885 | SLC12A3 | c.2264A>T (p.Glu755Val) c.2261A>T (p.Glu754Val) | |
16 | g.56888011A= | CA2224358099 | SLC12A3 | c.2265A= (p.Glu755=) c.2262A= (p.Glu754=) | |
16 | g.56888011A>C | CA395994886 | SLC12A3 | c.2265A>C (p.Glu755Asp) c.2262A>C (p.Glu754Asp) | |
16 | g.56888011A>G | CA281510119 | SLC12A3 | c.2265A>G (p.Glu755=) c.2262A>G (p.Glu754=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56888011A>T | CA395994887 | SLC12A3 | c.2265A>T (p.Glu755Asp) c.2262A>T (p.Glu754Asp) | |
16 | g.56888012G>A | CA395994888 | SLC12A3 | c.2266G>A (p.Asp756Asn) c.2263G>A (p.Asp755Asn) | |
16 | g.56888012G>C | CA395994889 | SLC12A3 | c.2266G>C (p.Asp756His) c.2263G>C (p.Asp755His) | |
16 | g.56888012G>T | CA395994890 | SLC12A3 | c.2266G>T (p.Asp756Tyr) c.2263G>T (p.Asp755Tyr) | |
16 | g.56888013A>C | CA395994893 | SLC12A3 | c.2267A>C (p.Asp756Ala) c.2264A>C (p.Asp755Ala) | |
16 | g.56888013A>G | CA395994891 | SLC12A3 | c.2267A>G (p.Asp756Gly) c.2264A>G (p.Asp755Gly) | |
16 | g.56888013A>T | CA395994892 | SLC12A3 | c.2267A>T (p.Asp756Val) c.2264A>T (p.Asp755Val) | |
16 | g.56888014C>A | CA395994894 | SLC12A3 | c.2268C>A (p.Asp756Glu) c.2265C>A (p.Asp755Glu) | |
16 | g.56888014C>G | CA395994895 | SLC12A3 | c.2268C>G (p.Asp756Glu) c.2265C>G (p.Asp755Glu) | |
16 | g.56888014C>T | CA495607965 | SLC12A3 | c.2268C>T (p.Asp756=) c.2265C>T (p.Asp755=) | |
16 | g.56888015del | CA2573152373 | SLC12A3 | c.2269del (p.Tyr757ThrfsTer18) c.2266del (p.Tyr756ThrfsTer18) | ClinVar dbSNP |
16 | g.56888015T>A | CA395994896 | SLC12A3 | c.2269T>A (p.Tyr757Asn) c.2266T>A (p.Tyr756Asn) | |
16 | g.56888015T>C | CA395994897 | SLC12A3 | c.2269T>C (p.Tyr757His) c.2266T>C (p.Tyr756His) | |
16 | g.56888015T>G | CA395994898 | SLC12A3 | c.2269T>G (p.Tyr757Asp) c.2266T>G (p.Tyr756Asp) | |
16 | g.56888016A>C | CA395994899 | SLC12A3 | c.2270A>C (p.Tyr757Ser) c.2267A>C (p.Tyr756Ser) | |
16 | g.56888016A>G | CA395994900 | SLC12A3 | c.2270A>G (p.Tyr757Cys) c.2267A>G (p.Tyr756Cys) | |
16 | g.56888016A>T | CA395994901 | SLC12A3 | c.2270A>T (p.Tyr757Phe) c.2267A>T (p.Tyr756Phe) | |
16 | g.56888017C>A | CA395994902 | SLC12A3 | c.2271C>A (p.Tyr757Ter) c.2268C>A (p.Tyr756Ter) | |
16 | g.56888017C= | CA2224358100 | SLC12A3 | c.2271C= (p.Tyr757=) c.2268C= (p.Tyr756=) | |
16 | g.56888017C>G | CA395994903 | SLC12A3 | c.2271C>G (p.Tyr757Ter) c.2268C>G (p.Tyr756Ter) | |
16 | g.56888017C>T | CA495607993 | SLC12A3 | c.2271C>T (p.Tyr757=) c.2268C>T (p.Tyr756=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56888018A= | CA2224358101 | SLC12A3 | c.2272A= (p.Ile758=) c.2269A= (p.Ile757=) | |
16 | g.56888018A>C | CA10643907 | SLC12A3 | c.2272A>C (p.Ile758Leu) c.2269A>C (p.Ile757Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.56888018A>G | CA395994905 | SLC12A3 | c.2272A>G (p.Ile758Val) c.2269A>G (p.Ile757Val) | dbSNP gnomAD v4 |
16 | g.56888018A>T | CA395994904 | SLC12A3 | c.2272A>T (p.Ile758Phe) c.2269A>T (p.Ile757Phe) | |
16 | g.56888019T>A | CA395994906 | SLC12A3 | c.2273T>A (p.Ile758Asn) c.2270T>A (p.Ile757Asn) | |
16 | g.56888019T>C | CA8069804 | SLC12A3 | c.2273T>C (p.Ile758Thr) c.2270T>C (p.Ile757Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888019T>G | CA8069803 | SLC12A3 | c.2273T>G (p.Ile758Ser) c.2270T>G (p.Ile757Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888019T= | CA2224358102 | SLC12A3 | c.2273T= (p.Ile758=) c.2270T= (p.Ile757=) | |
16 | g.56888020T>A | CA495608009 | SLC12A3 | c.2274T>A (p.Ile758=) c.2271T>A (p.Ile757=) | |
16 | g.56888020T>C | CA495608012 | SLC12A3 | c.2274T>C (p.Ile758=) c.2271T>C (p.Ile757=) | |
16 | g.56888020T>G | CA395994907 | SLC12A3 | c.2274T>G (p.Ile758Met) c.2271T>G (p.Ile757Met) | |
16 | g.56888020_56888021delinsTG | CA2224358103 | SLC12A3 | c.2274_2275delinsTG (p.Ile758=) c.2271_2272delinsTG (p.Ile757=) | |
16 | g.56888021G>A | CA395994908 | SLC12A3 | c.2275G>A (p.Gly759Ser) c.2272G>A (p.Gly758Ser) | |
16 | g.56888021G>C | CA395994909 | SLC12A3 | c.2275G>C (p.Gly759Arg) c.2272G>C (p.Gly758Arg) | |
16 | g.56888021G>T | CA395994910 | SLC12A3 | c.2275G>T (p.Gly759Cys) c.2272G>T (p.Gly758Cys) | |
16 | g.56888022del | CA622339033 | SLC12A3 | c.2276del (p.Gly759AlafsTer16) c.2273del (p.Gly758AlafsTer16) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56888022G>A | CA395994911 | SLC12A3 | c.2276G>A (p.Gly759Asp) c.2273G>A (p.Gly758Asp) | dbSNP gnomAD v4 |
16 | g.56888022G>C | CA281510133 | SLC12A3 | c.2276G>C (p.Gly759Ala) c.2273G>C (p.Gly758Ala) | dbSNP gnomAD v4 |
16 | g.56888022G= | CA2224358104 | SLC12A3 | c.2276G= (p.Gly759=) c.2273G= (p.Gly758=) | |
16 | g.56888022G>T | CA395994912 | SLC12A3 | c.2276G>T (p.Gly759Val) c.2273G>T (p.Gly758Val) | |
16 | g.56888023C>A | CA495608037 | SLC12A3 | c.2277C>A (p.Gly759=) c.2274C>A (p.Gly758=) | |
16 | g.56888023C>G | CA495608040 | SLC12A3 | c.2277C>G (p.Gly759=) c.2274C>G (p.Gly758=) | |
16 | g.56888023C>T | CA495608041 | SLC12A3 | c.2277C>T (p.Gly759=) c.2274C>T (p.Gly758=) | |
16 | g.56888024A>C | CA395994913 | SLC12A3 | c.2278A>C (p.Ile760Leu) c.2275A>C (p.Ile759Leu) | |
16 | g.56888024A>G | CA395994914 | SLC12A3 | c.2278A>G (p.Ile760Val) c.2275A>G (p.Ile759Val) | |
16 | g.56888024A>T | CA395994915 | SLC12A3 | c.2278A>T (p.Ile760Phe) c.2275A>T (p.Ile759Phe) | |
16 | g.56888025T>A | CA395994918 | SLC12A3 | c.2279T>A (p.Ile760Asn) c.2276T>A (p.Ile759Asn) | |
16 | g.56888025T>C | CA395994916 | SLC12A3 | c.2279T>C (p.Ile760Thr) c.2276T>C (p.Ile759Thr) | |
16 | g.56888025T>G | CA395994917 | SLC12A3 | c.2279T>G (p.Ile760Ser) c.2276T>G (p.Ile759Ser) | |
16 | g.56888026C>A | CA495608054 | SLC12A3 | c.2280C>A (p.Ile760=) c.2277C>A (p.Ile759=) | |
16 | g.56888026C= | CA2224358105 | SLC12A3 | c.2280C= (p.Ile760=) c.2277C= (p.Ile759=) | |
16 | g.56888026C>G | CA395994919 | SLC12A3 | c.2280C>G (p.Ile760Met) c.2277C>G (p.Ile759Met) | |
16 | g.56888026C>T | CA495608055 | SLC12A3 | c.2280C>T (p.Ile760=) c.2277C>T (p.Ile759=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56888027C>A | CA395994920 | SLC12A3 | c.2281C>A (p.Leu761Ile) c.2278C>A (p.Leu760Ile) | gnomAD v4 |
16 | g.56888027C>G | CA395994921 | SLC12A3 | c.2281C>G (p.Leu761Val) c.2278C>G (p.Leu760Val) | |
16 | g.56888027C>T | CA395994922 | SLC12A3 | c.2281C>T (p.Leu761Phe) c.2278C>T (p.Leu760Phe) | gnomAD v4 |
16 | g.56888028T>A | CA395994923 | SLC12A3 | c.2282T>A (p.Leu761His) c.2279T>A (p.Leu760His) | gnomAD v4 |
16 | g.56888028T>C | CA395994924 | SLC12A3 | c.2282T>C (p.Leu761Pro) c.2279T>C (p.Leu760Pro) | gnomAD v4 |
16 | g.56888028T>G | CA395994925 | SLC12A3 | c.2282T>G (p.Leu761Arg) c.2279T>G (p.Leu760Arg) | |
16 | g.56888029C>A | CA495608069 | SLC12A3 | c.2283C>A (p.Leu761=) c.2280C>A (p.Leu760=) | |
16 | g.56888029C= | CA2224358106 | SLC12A3 | c.2283C= (p.Leu761=) c.2280C= (p.Leu760=) | |
16 | g.56888029C>G | CA495608072 | SLC12A3 | c.2283C>G (p.Leu761=) c.2280C>G (p.Leu760=) | |
16 | g.56888029C>T | CA8069805 | SLC12A3 | c.2283C>T (p.Leu761=) c.2280C>T (p.Leu760=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888030C>A | CA395994926 | SLC12A3 | c.2284C>A (p.His762Asn) c.2281C>A (p.His761Asn) | gnomAD v4 |
16 | g.56888030C>G | CA395994927 | SLC12A3 | c.2284C>G (p.His762Asp) c.2281C>G (p.His761Asp) | |
16 | g.56888030C>T | CA395994928 | SLC12A3 | c.2284C>T (p.His762Tyr) c.2281C>T (p.His761Tyr) | |
16 | g.56888031A>C | CA395994931 | SLC12A3 | c.2285A>C (p.His762Pro) c.2282A>C (p.His761Pro) | gnomAD v4 |
16 | g.56888031A>G | CA395994930 | SLC12A3 | c.2285A>G (p.His762Arg) c.2282A>G (p.His761Arg) | |
16 | g.56888031A>T | CA395994929 | SLC12A3 | c.2285A>T (p.His762Leu) c.2282A>T (p.His761Leu) | |
16 | g.56888031_56888032delinsAG | CA2224358107 | SLC12A3 | c.2285_2285+1delinsAG c.2282_2282+1delinsAG | |
16 | g.56888031_56888032insT | CA2633375948 | SLC12A3 | c.2285_2285+1insT (n.2285_2285+1insT) c.2282_2282+1insT (n.2282_2282+1insT) | gnomAD v4 |
16 | g.56888032del | CA2224358108 | SLC12A3 | c.2285+1del (n.2285+1del) c.2282+1del (n.2282+1del) | ClinVar dbSNP |
16 | g.56888032G>A | CA395994932 | SLC12A3 | c.2285+1G>A (n.2285+1G>A) c.2282+1G>A (n.2282+1G>A) | |
16 | g.56888032G>C | CA395994934 | SLC12A3 | c.2285+1G>C (n.2285+1G>C) c.2282+1G>C (n.2282+1G>C) | |
16 | g.56888032G>T | CA395994933 | SLC12A3 | c.2285+1G>T (n.2285+1G>T) c.2282+1G>T (n.2282+1G>T) | |
16 | g.56888032_56888033insATGCCTTTGATTTCAACTATGGCGTGTGTGTCA | CA2633375952 | SLC12A3 | c.2285+1_2285+2insATGCCTTTGATTTCAACTATGGCGTGTGTGTCA (n.2285+1_2285+2insATGCCTTTGATTTCAACTATGGCGTGTGTGTCA) c.2282+1_2282+2insATGCCTTTGATTTCAACTATGGCGTGTGTGTCA (n.2282+1_2282+2insATGCCTTTGATTTCAACTATGGCGTGTGTGTCA) | gnomAD v4 |
16 | g.56888033T>A | CA395994935 | SLC12A3 | c.2285+2T>A (n.2285+2T>A) c.2282+2T>A (n.2282+2T>A) | |
16 | g.56888033T>C | CA8069806 | SLC12A3 | c.2285+2T>C (n.2285+2T>C) c.2282+2T>C (n.2282+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56888033T>G | CA395994936 | SLC12A3 | c.2285+2T>G (n.2285+2T>G) c.2282+2T>G (n.2282+2T>G) | |
16 | g.56888033T= | CA2224358109 | SLC12A3 | c.2285+2T= (n.2285+2T=) c.2282+2T= (n.2282+2T=) | |
16 | g.56888035A>G | CA2807160552 | SLC12A3 | c.2285+4A>G (n.2285+4A>G) c.2282+4A>G (n.2282+4A>G) | |
16 | g.56888038C>A | CA622339035 | SLC12A3 | c.2285+7C>A (n.2285+7C>A) c.2282+7C>A (n.2282+7C>A) | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888038C= | CA2224358110 | SLC12A3 | c.2285+7C= (n.2285+7C=) c.2282+7C= (n.2282+7C=) | |
16 | g.56888038C>T | CA8069808 | SLC12A3 | c.2285+7C>T (n.2285+7C>T) c.2282+7C>T (n.2282+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888038_56888041delinsCGGG | CA2224358111 | SLC12A3 | c.2285+7_2285+10delinsCGGG (n.2285+7_2285+10delinsCGGG) c.2282+7_2282+10delinsCGGG (n.2282+7_2282+10delinsCGGG) | |
16 | g.56888039G>A | CA8069809 | SLC12A3 | c.2285+8G>A (n.2285+8G>A) c.2282+8G>A (n.2282+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888039G>C | CA2633375964 | SLC12A3 | c.2285+8G>C (n.2285+8G>C) c.2282+8G>C (n.2282+8G>C) | gnomAD v4 |
16 | g.56888039G= | CA2224358112 | SLC12A3 | c.2285+8G= (n.2285+8G=) c.2282+8G= (n.2282+8G=) | |
16 | g.56888039G>T | CA281510158 | SLC12A3 | c.2285+8G>T (n.2285+8G>T) c.2282+8G>T (n.2282+8G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56888043del | CA2499223600 | SLC12A3 | c.2285+12del (n.2285+12del) c.2282+12del (n.2282+12del) | ClinVar dbSNP gnomAD v4 |
16 | g.56888041_56888043del | CA8069807 | SLC12A3 | c.2285+10_2285+12del (n.2285+10_2285+12del) c.2282+10_2282+12del (n.2282+10_2282+12del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888040G= | CA2224358113 | SLC12A3 | c.2285+9G= (n.2285+9G=) c.2282+9G= (n.2282+9G=) | |
16 | g.56888040G>T | CA977649560 | SLC12A3 | c.2285+9G>T (n.2285+9G>T) c.2282+9G>T (n.2282+9G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56888041G>A | CA8069811 | SLC12A3 | c.2285+10G>A (n.2285+10G>A) c.2282+10G>A (n.2282+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56888041G>C | CA8069810 | SLC12A3 | c.2285+10G>C (n.2285+10G>C) c.2282+10G>C (n.2282+10G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888041G= | CA2224358114 | SLC12A3 | c.2285+10G= (n.2285+10G=) c.2282+10G= (n.2282+10G=) | |
16 | g.56888042G>A | CA8069812 | SLC12A3 | c.2285+11G>A (n.2285+11G>A) c.2282+11G>A (n.2282+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888042G= | CA2224358115 | SLC12A3 | c.2285+11G= (n.2285+11G=) c.2282+11G= (n.2282+11G=) | |
16 | g.56888043G>A | CA622339036 | SLC12A3 | c.2285+12G>A (n.2285+12G>A) c.2282+12G>A (n.2282+12G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56888043G= | CA2224358116 | SLC12A3 | c.2285+12G= (n.2285+12G=) c.2282+12G= (n.2282+12G=) | |
16 | g.56888043G>T | CA622339037 | SLC12A3 | c.2285+12G>T (n.2285+12G>T) c.2282+12G>T (n.2282+12G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888043_56888044delinsGA | CA2224358117 | SLC12A3 | c.2285+12_2285+13delinsGA (n.2285+12_2285+13delinsGA) c.2282+12_2282+13delinsGA (n.2282+12_2282+13delinsGA) | |
16 | g.56888044del | CA622339038 | SLC12A3 | c.2285+13del (n.2285+13del) c.2282+13del (n.2282+13del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888044A>G | CA2633375983 | SLC12A3 | c.2285+13A>G (n.2285+13A>G) c.2282+13A>G (n.2282+13A>G) | gnomAD v4 |
16 | g.56888045G>A | CA2576002054 | SLC12A3 | c.2285+14G>A (n.2285+14G>A) c.2282+14G>A (n.2282+14G>A) | gnomAD v4 |
16 | g.56888045G= | CA2224358118 | SLC12A3 | c.2285+14G= (n.2285+14G=) c.2282+14G= (n.2282+14G=) | |
16 | g.56888046A>G | CA2633375984 | SLC12A3 | c.2285+15A>G (n.2285+15A>G) c.2282+15A>G (n.2282+15A>G) | gnomAD v4 |
16 | g.56888046_56888047insTCA | CA622339039 | SLC12A3 | c.2285+15_2285+16insTCA (n.2285+15_2285+16insTCA) c.2282+15_2282+16insTCA (n.2282+15_2282+16insTCA) | dbSNP gnomAD v2 |
16 | g.56888047G>A | CA2633375987 | SLC12A3 | c.2285+16G>A (n.2285+16G>A) c.2282+16G>A (n.2282+16G>A) | gnomAD v4 |
16 | g.56888047G>C | CA8069813 | SLC12A3 | c.2285+16G>C (n.2285+16G>C) c.2282+16G>C (n.2282+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56888047G= | CA2224358119 | SLC12A3 | c.2285+16G= (n.2285+16G=) c.2282+16G= (n.2282+16G=) | |
16 | g.56888048G>A | CA622339040 | SLC12A3 | c.2285+17G>A (n.2285+17G>A) c.2282+17G>A (n.2282+17G>A) | dbSNP gnomAD v2 |
16 | g.56888048G= | CA2224358120 | SLC12A3 | c.2285+17G= (n.2285+17G=) c.2282+17G= (n.2282+17G=) | |
16 | g.56888049A= | CA2224358121 | SLC12A3 | c.2285+18A= (n.2285+18A=) c.2282+18A= (n.2282+18A=) | |
16 | g.56888049A>T | CA8069814 | SLC12A3 | c.2285+18A>T (n.2285+18A>T) c.2282+18A>T (n.2282+18A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56888050A>G | CA2633375988 | SLC12A3 | c.2285+19A>G (n.2285+19A>G) c.2282+19A>G (n.2282+19A>G) | gnomAD v4 |
16 | g.56888051G>A | CA2633375990 | SLC12A3 | c.2285+20G>A (n.2285+20G>A) c.2282+20G>A (n.2282+20G>A) | gnomAD v4 |
16 | g.56888051G>C | CA2633375989 | SLC12A3 | c.2285+20G>C (n.2285+20G>C) c.2282+20G>C (n.2282+20G>C) | gnomAD v4 |
16 | g.56888052G>A | CA2633375993 | SLC12A3 | c.2285+21G>A (n.2285+21G>A) c.2282+21G>A (n.2282+21G>A) | dbSNP gnomAD v4 |
16 | g.56888052G>C | CA2224358123 | SLC12A3 | c.2285+21G>C (n.2285+21G>C) c.2282+21G>C (n.2282+21G>C) | dbSNP gnomAD v4 |
16 | g.56888052G= | CA2224358122 | SLC12A3 | c.2285+21G= (n.2285+21G=) c.2282+21G= (n.2282+21G=) | |
16 | g.56888053G>A | CA622339042 | SLC12A3 | c.2285+22G>A (n.2285+22G>A) c.2282+22G>A (n.2282+22G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56888053G= | CA2224358124 | SLC12A3 | c.2285+22G= (n.2285+22G=) c.2282+22G= (n.2282+22G=) | |
16 | g.56888053G>T | CA622339041 | SLC12A3 | c.2285+22G>T (n.2285+22G>T) c.2282+22G>T (n.2282+22G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56888054G>A | CA281510175 | SLC12A3 | c.2285+23G>A (n.2285+23G>A) c.2282+23G>A (n.2282+23G>A) | dbSNP gnomAD v4 |
16 | g.56888054G= | CA2224358125 | SLC12A3 | c.2285+23G= (n.2285+23G=) c.2282+23G= (n.2282+23G=) | |
16 | g.56888054G>T | CA622339043 | SLC12A3 | c.2285+23G>T (n.2285+23G>T) c.2282+23G>T (n.2282+23G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56888054_56888055delinsGC | CA2224358126 | SLC12A3 | c.2285+23_2285+24delinsGC (n.2285+23_2285+24delinsGC) c.2282+23_2282+24delinsGC (n.2282+23_2282+24delinsGC) | |
16 | g.56888055del | CA721939378 | SLC12A3 | c.2285+24del (n.2285+24del) c.2282+24del (n.2282+24del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56888055C>A | CA2576002055 | SLC12A3 | c.2285+24C>A (n.2285+24C>A) c.2282+24C>A (n.2282+24C>A) | gnomAD v4 |
16 | g.56888055C= | CA2224358128 | SLC12A3 | c.2285+24C= (n.2285+24C=) c.2282+24C= (n.2282+24C=) | |
16 | g.56888055C>G | CA2224358127 | SLC12A3 | c.2285+24C>G (n.2285+24C>G) c.2282+24C>G (n.2282+24C>G) | dbSNP |
16 | g.56888056T>G | CA2633375998 | SLC12A3 | c.2285+25T>G (n.2285+25T>G) c.2282+25T>G (n.2282+25T>G) | gnomAD v4 |
16 | g.56888057T>G | CA8069815 | SLC12A3 | c.2285+26T>G (n.2285+26T>G) c.2282+26T>G (n.2282+26T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56888057T= | CA2224358129 | SLC12A3 | c.2285+26T= (n.2285+26T=) c.2282+26T= (n.2282+26T=) | |
16 | g.56888058G>A | CA8069816 | SLC12A3 | c.2285+27G>A (n.2285+27G>A) c.2282+27G>A (n.2282+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888058G= | CA2224358130 | SLC12A3 | c.2285+27G= (n.2285+27G=) c.2282+27G= (n.2282+27G=) | |
16 | g.56888058G>T | CA2633375999 | SLC12A3 | c.2285+27G>T (n.2285+27G>T) c.2282+27G>T (n.2282+27G>T) | gnomAD v4 |
16 | g.56888059G>C | CA2732477976 | SLC12A3 | c.2285+28G>C (n.2285+28G>C) c.2282+28G>C (n.2282+28G>C) | dbSNP |
16 | g.56888059G>T | CA2633376000 | SLC12A3 | c.2285+28G>T (n.2285+28G>T) c.2282+28G>T (n.2282+28G>T) | gnomAD v4 |
16 | g.56888060G>A | CA8069817 | SLC12A3 | c.2285+29G>A (n.2285+29G>A) c.2282+29G>A (n.2282+29G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56888060G= | CA2224358131 | SLC12A3 | c.2285+29G= (n.2285+29G=) c.2282+29G= (n.2282+29G=) | |
16 | g.56888060G>T | CA2224358132 | SLC12A3 | c.2285+29G>T (n.2285+29G>T) c.2282+29G>T (n.2282+29G>T) | dbSNP |
16 | g.56888061G>A | CA2633376006 | SLC12A3 | c.2285+30G>A (n.2285+30G>A) c.2282+30G>A (n.2282+30G>A) | gnomAD v4 |
16 | g.56888061G>C | CA721939388 | SLC12A3 | c.2285+30G>C (n.2285+30G>C) c.2282+30G>C (n.2282+30G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56888061G= | CA2224358133 | SLC12A3 | c.2285+30G= (n.2285+30G=) c.2282+30G= (n.2282+30G=) | |
16 | g.56888061G>T | CA8069818 | SLC12A3 | c.2285+30G>T (n.2285+30G>T) c.2282+30G>T (n.2282+30G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888062del | CA2633376010 | SLC12A3 | c.2285+31del (n.2285+31del) c.2282+31del (n.2282+31del) | gnomAD v4 |
16 | g.56888062T>C | CA2633376011 | SLC12A3 | c.2285+31T>C (n.2285+31T>C) c.2282+31T>C (n.2282+31T>C) | gnomAD v4 |
16 | g.56888062T>G | CA2224358135 | SLC12A3 | c.2285+31T>G (n.2285+31T>G) c.2282+31T>G (n.2282+31T>G) | dbSNP |
16 | g.56888062T= | CA2224358134 | SLC12A3 | c.2285+31T= (n.2285+31T=) c.2282+31T= (n.2282+31T=) | |
16 | g.56888063C>A | CA2576002056 | SLC12A3 | c.2285+32C>A (n.2285+32C>A) c.2282+32C>A (n.2282+32C>A) | gnomAD v4 |
16 | g.56888064T>C | CA622339044 | SLC12A3 | c.2285+33T>C (n.2285+33T>C) c.2282+33T>C (n.2282+33T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888064T= | CA2224358136 | SLC12A3 | c.2285+33T= (n.2285+33T=) c.2282+33T= (n.2282+33T=) | |
16 | g.56888065G>A | CA721939397 | SLC12A3 | c.2285+34G>A (n.2285+34G>A) c.2282+34G>A (n.2282+34G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56888065G= | CA2224358137 | SLC12A3 | c.2285+34G= (n.2285+34G=) c.2282+34G= (n.2282+34G=) | |
16 | g.56888065G>T | CA2633376014 | SLC12A3 | c.2285+34G>T (n.2285+34G>T) c.2282+34G>T (n.2282+34G>T) | gnomAD v4 |
16 | g.56888067del | CA2633376015 | SLC12A3 | c.2285+36del (n.2285+36del) c.2282+36del (n.2282+36del) | gnomAD v4 |
16 | g.56888070T>C | CA8069819 | SLC12A3 | c.2285+39T>C (n.2285+39T>C) c.2282+39T>C (n.2282+39T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56888070T>G | CA281510217 | SLC12A3 | c.2285+39T>G (n.2285+39T>G) c.2282+39T>G (n.2282+39T>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56888070T= | CA2224358138 | SLC12A3 | c.2285+39T= (n.2285+39T=) c.2282+39T= (n.2282+39T=) | |
16 | g.56888073G>A | CA2576002057 | SLC12A3 | c.2285+42G>A (n.2285+42G>A) c.2282+42G>A (n.2282+42G>A) | gnomAD v4 |
16 | g.56888073G>C | CA2633376018 | SLC12A3 | c.2285+42G>C (n.2285+42G>C) c.2282+42G>C (n.2282+42G>C) | gnomAD v4 |
16 | g.56888073G>T | CA2633376019 | SLC12A3 | c.2285+42G>T (n.2285+42G>T) c.2282+42G>T (n.2282+42G>T) | gnomAD v4 |
16 | g.56888075G>A | CA8069820 | SLC12A3 | c.2285+44G>A (n.2285+44G>A) c.2282+44G>A (n.2282+44G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56888075G= | CA2224358139 | SLC12A3 | c.2285+44G= (n.2285+44G=) c.2282+44G= (n.2282+44G=) | |
16 | g.56888075G>T | CA2224358140 | SLC12A3 | c.2285+44G>T (n.2285+44G>T) c.2282+44G>T (n.2282+44G>T) | dbSNP |
16 | g.56888076C>A | CA622339045 | SLC12A3 | c.2285+45C>A (n.2285+45C>A) c.2282+45C>A (n.2282+45C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888076C= | CA2224358141 | SLC12A3 | c.2285+45C= (n.2285+45C=) c.2282+45C= (n.2282+45C=) | |
16 | g.56888076C>T | CA2633376021 | SLC12A3 | c.2285+45C>T (n.2285+45C>T) c.2282+45C>T (n.2282+45C>T) | gnomAD v4 |
16 | g.56888077C>A | CA2576002058 | SLC12A3 | c.2285+46C>A (n.2285+46C>A) c.2282+46C>A (n.2282+46C>A) | gnomAD v4 |
16 | g.56888078C>A | CA2633376022 | SLC12A3 | c.2285+47C>A (n.2285+47C>A) c.2282+47C>A (n.2282+47C>A) | gnomAD v4 |
16 | g.56888078C= | CA2224358142 | SLC12A3 | c.2285+47C= (n.2285+47C=) c.2282+47C= (n.2282+47C=) | |
16 | g.56888078C>G | CA2224358143 | SLC12A3 | c.2285+47C>G (n.2285+47C>G) c.2282+47C>G (n.2282+47C>G) | dbSNP |
16 | g.56888078C>T | CA2224358144 | SLC12A3 | c.2285+47C>T (n.2285+47C>T) c.2282+47C>T (n.2282+47C>T) | dbSNP |
16 | g.56888079A>G | CA2732477980 | SLC12A3 | c.2285+48A>G (n.2285+48A>G) c.2282+48A>G (n.2282+48A>G) | dbSNP |
16 | g.56888080T>A | CA2576002059 | SLC12A3 | c.2285+49T>A (n.2285+49T>A) c.2282+49T>A (n.2282+49T>A) | gnomAD v4 |
16 | g.56888080T>C | CA8069821 | SLC12A3 | c.2285+49T>C (n.2285+49T>C) c.2282+49T>C (n.2282+49T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56888080T>G | CA2633376023 | SLC12A3 | c.2285+49T>G (n.2285+49T>G) c.2282+49T>G (n.2282+49T>G) | gnomAD v4 |
16 | g.56888080T= | CA2224358145 | SLC12A3 | c.2285+49T= (n.2285+49T=) c.2282+49T= (n.2282+49T=) | |
16 | g.56888081T>G | CA2633376025 | SLC12A3 | c.2285+50T>G (n.2285+50T>G) c.2282+50T>G (n.2282+50T>G) | gnomAD v4 |
16 | g.56888084dup | CA2843104547 | SLC12A3 | c.2285+53dup (n.2285+53dup) c.2282+53dup (n.2282+53dup) | |
16 | g.56888083G>A | CA2633376028 | SLC12A3 | c.2285+52G>A (n.2285+52G>A) c.2282+52G>A (n.2282+52G>A) | gnomAD v4 |
16 | g.56888084G>A | CA2633376031 | SLC12A3 | c.2285+53G>A (n.2285+53G>A) c.2282+53G>A (n.2282+53G>A) | gnomAD v4 |
16 | g.56888084G= | CA2224358146 | SLC12A3 | c.2285+53G= (n.2285+53G=) c.2282+53G= (n.2282+53G=) | |
16 | g.56888084G>T | CA2224358147 | SLC12A3 | c.2285+53G>T (n.2285+53G>T) c.2282+53G>T (n.2282+53G>T) | dbSNP gnomAD v4 |