Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56887978_56887980del | CA2633375890 | SLC12A3 | c.2232_2234del (p.Lys744del) c.2229_2231del (p.Lys743del) | gnomAD v4 |
16 | g.56887980A>C | CA395994763 | SLC12A3 | c.2234A>C (p.Asn745Thr) c.2231A>C (p.Asn744Thr) | |
16 | g.56887980A>G | CA395994767 | SLC12A3 | c.2234A>G (p.Asn745Ser) c.2231A>G (p.Asn744Ser) | |
16 | g.56887980A>T | CA395994765 | SLC12A3 | c.2234A>T (p.Asn745Ile) c.2231A>T (p.Asn744Ile) | |
16 | g.56887981C>A | CA395994769 | SLC12A3 | c.2235C>A (p.Asn745Lys) c.2232C>A (p.Asn744Lys) | |
16 | g.56887981C>G | CA395994771 | SLC12A3 | c.2235C>G (p.Asn745Lys) c.2232C>G (p.Asn744Lys) | |
16 | g.56887981C>T | CA495607785 | SLC12A3 | c.2235C>T (p.Asn745=) c.2232C>T (p.Asn744=) | ClinVar dbSNP |
16 | g.56887982T>A | CA395994772 | SLC12A3 | c.2236T>A (p.Trp746Arg) c.2233T>A (p.Trp745Arg) | |
16 | g.56887982T>C | CA395994773 | SLC12A3 | c.2236T>C (p.Trp746Arg) c.2233T>C (p.Trp745Arg) | |
16 | g.56887982T>G | CA395994775 | SLC12A3 | c.2236T>G (p.Trp746Gly) c.2233T>G (p.Trp745Gly) | |
16 | g.56887983G>A | CA281510092 | SLC12A3 | c.2237G>A (p.Trp746Ter) c.2234G>A (p.Trp745Ter) | dbSNP COSMIC |
16 | g.56887983G>C | CA395994778 | SLC12A3 | c.2237G>C (p.Trp746Ser) c.2234G>C (p.Trp745Ser) | |
16 | g.56887983G= | CA2224358085 | SLC12A3 | c.2237G= (p.Trp746=) c.2234G= (p.Trp745=) | |
16 | g.56887983G>T | CA395994780 | SLC12A3 | c.2237G>T (p.Trp746Leu) c.2234G>T (p.Trp745Leu) | |
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 |