Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42787394G>A | CA8584033 | WNK4 | c.1593G>A (p.Glu531=) n.273G>A c.*94G>A (n.*94G>A) c.585G>A (p.Glu195=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787394G>C | CA399656761 | WNK4 | c.1593G>C (p.Glu531Asp) n.273G>C c.*94G>C (n.*94G>C) c.585G>C (p.Glu195Asp) | |
17 | g.42787394G= | CA2260641869 | WNK4 | c.1593G= (p.Glu531=) n.273G= c.*94G= (n.*94G=) c.585G= (p.Glu195=) | |
17 | g.42787394G>T | CA399656759 | WNK4 | c.1593G>T (p.Glu531Asp) n.273G>T c.*94G>T (n.*94G>T) c.585G>T (p.Glu195Asp) | |
17 | g.42787395G>A | CA399656766 | WNK4 | c.1594G>A (p.Ala532Thr) n.274G>A c.*95G>A (n.*95G>A) c.586G>A (p.Ala196Thr) | |
17 | g.42787395G>C | CA399656768 | WNK4 | c.1594G>C (p.Ala532Pro) n.274G>C c.*95G>C (n.*95G>C) c.586G>C (p.Ala196Pro) | |
17 | g.42787395G= | CA2260641870 | WNK4 | c.1594G= (p.Ala532=) n.274G= c.*95G= (n.*95G=) c.586G= (p.Ala196=) | |
17 | g.42787395G>T | CA399656771 | WNK4 | c.1594G>T (p.Ala532Ser) n.274G>T c.*95G>T (n.*95G>T) c.586G>T (p.Ala196Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787396C>A | CA399656773 | WNK4 | c.1595C>A (p.Ala532Glu) n.275C>A c.*96C>A (n.*96C>A) c.587C>A (p.Ala196Glu) | |
17 | g.42787396C= | CA2260641871 | WNK4 | c.1595C= (p.Ala532=) n.275C= c.*96C= (n.*96C=) c.587C= (p.Ala196=) | |
17 | g.42787396C>G | CA399656775 | WNK4 | c.1595C>G (p.Ala532Gly) n.275C>G c.*96C>G (n.*96C>G) c.587C>G (p.Ala196Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787396C>T | CA399656778 | WNK4 | c.1595C>T (p.Ala532Val) n.275C>T c.*96C>T (n.*96C>T) c.587C>T (p.Ala196Val) | |
17 | g.42787397A>C | CA500225445 | WNK4 | c.1596A>C (p.Ala532=) n.276A>C c.*97A>C (n.*97A>C) c.588A>C (p.Ala196=) | gnomAD v3 gnomAD v4 |
17 | g.42787397A>G | CA500225447 | WNK4 | c.1596A>G (p.Ala532=) n.276A>G c.*97A>G (n.*97A>G) c.588A>G (p.Ala196=) | |
17 | g.42787397A>T | CA500225449 | WNK4 | c.1596A>T (p.Ala532=) n.276A>T c.*97A>T (n.*97A>T) c.588A>T (p.Ala196=) | |
17 | g.42787398C>A | CA399656783 | WNK4 | c.1597C>A (p.Leu533Ile) n.277C>A c.*98C>A (n.*98C>A) c.589C>A (p.Leu197Ile) | |
17 | g.42787398C= | CA2260641872 | WNK4 | c.1597C= (p.Leu533=) n.277C= c.*98C= (n.*98C=) c.589C= (p.Leu197=) | |
17 | g.42787398C>G | CA399656784 | WNK4 | c.1597C>G (p.Leu533Val) n.277C>G c.*98C>G (n.*98C>G) c.589C>G (p.Leu197Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787398C>T | CA399656786 | WNK4 | c.1597C>T (p.Leu533Phe) n.277C>T c.*98C>T (n.*98C>T) c.589C>T (p.Leu197Phe) | |
17 | g.42787399T>A | CA399656791 | WNK4 | c.1598T>A (p.Leu533His) n.278T>A c.*99T>A (n.*99T>A) c.590T>A (p.Leu197His) | |
17 | g.42787399T>C | CA290785064 | WNK4 | c.1598T>C (p.Leu533Pro) n.278T>C c.*99T>C (n.*99T>C) c.590T>C (p.Leu197Pro) | dbSNP gnomAD v4 |
17 | g.42787399T>G | CA399656801 | WNK4 | c.1598T>G (p.Leu533Arg) n.278T>G c.*99T>G (n.*99T>G) c.590T>G (p.Leu197Arg) | |
17 | g.42787399T= | CA2260641873 | WNK4 | c.1598T= (p.Leu533=) n.278T= c.*99T= (n.*99T=) c.590T= (p.Leu197=) | |
17 | g.42787400C>A | CA500225450 | WNK4 | c.1599C>A (p.Leu533=) n.279C>A c.*100C>A (n.*100C>A) c.591C>A (p.Leu197=) | |
17 | g.42787400C>G | CA500225452 | WNK4 | c.1599C>G (p.Leu533=) n.279C>G c.*100C>G (n.*100C>G) c.591C>G (p.Leu197=) | |
17 | g.42787400C>T | CA500225451 | WNK4 | c.1599C>T (p.Leu533=) n.279C>T c.*100C>T (n.*100C>T) c.591C>T (p.Leu197=) | COSMIC COSMIC |
17 | g.42787401C>A | CA399656810 | WNK4 | c.1600C>A (p.Pro534Thr) n.280C>A c.*101C>A (n.*101C>A) c.592C>A (p.Pro198Thr) | |
17 | g.42787401C>G | CA399656808 | WNK4 | c.1600C>G (p.Pro534Ala) n.280C>G c.*101C>G (n.*101C>G) c.592C>G (p.Pro198Ala) | |
17 | g.42787401C>T | CA399656809 | WNK4 | c.1600C>T (p.Pro534Ser) n.280C>T c.*101C>T (n.*101C>T) c.592C>T (p.Pro198Ser) | |
17 | g.42787402C>A | CA399656811 | WNK4 | c.1601C>A (p.Pro534Gln) n.281C>A c.*102C>A (n.*102C>A) c.593C>A (p.Pro198Gln) | |
17 | g.42787402C>G | CA399656813 | WNK4 | c.1601C>G (p.Pro534Arg) n.281C>G c.*102C>G (n.*102C>G) c.593C>G (p.Pro198Arg) | |
17 | g.42787402C>T | CA399656812 | WNK4 | c.1601C>T (p.Pro534Leu) n.281C>T c.*102C>T (n.*102C>T) c.593C>T (p.Pro198Leu) | gnomAD v4 |
17 | g.42787403A>C | CA500225459 | WNK4 | c.1602A>C (p.Pro534=) n.282A>C c.*103A>C (n.*103A>C) c.594A>C (p.Pro198=) | |
17 | g.42787403A>G | CA500225457 | WNK4 | c.1602A>G (p.Pro534=) n.282A>G c.*103A>G (n.*103A>G) c.594A>G (p.Pro198=) | gnomAD v4 |
17 | g.42787403A>T | CA500225458 | WNK4 | c.1602A>T (p.Pro534=) n.282A>T c.*103A>T (n.*103A>T) c.594A>T (p.Pro198=) | |
17 | g.42787404C>A | CA399656814 | WNK4 | c.1603C>A (p.Pro535Thr) n.283C>A c.*104C>A (n.*104C>A) c.595C>A (p.Pro199Thr) | |
17 | g.42787404C= | CA2260641874 | WNK4 | c.1603C= (p.Pro535=) n.283C= c.*104C= (n.*104C=) c.595C= (p.Pro199=) | |
17 | g.42787404C>G | CA399656822 | WNK4 | c.1603C>G (p.Pro535Ala) n.283C>G c.*104C>G (n.*104C>G) c.595C>G (p.Pro199Ala) | gnomAD v4 |
17 | g.42787404C>T | CA290785066 | WNK4 | c.1603C>T (p.Pro535Ser) n.283C>T c.*104C>T (n.*104C>T) c.595C>T (p.Pro199Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787405C>A | CA399656836 | WNK4 | c.1604C>A (p.Pro535Gln) n.284C>A c.*105C>A (n.*105C>A) c.596C>A (p.Pro199Gln) | |
17 | g.42787405C>G | CA399656838 | WNK4 | c.1604C>G (p.Pro535Arg) n.284C>G c.*105C>G (n.*105C>G) c.596C>G (p.Pro199Arg) | |
17 | g.42787405C>T | CA399656842 | WNK4 | c.1604C>T (p.Pro535Leu) n.284C>T c.*105C>T (n.*105C>T) c.596C>T (p.Pro199Leu) | |
17 | g.42787406A>C | CA500225460 | WNK4 | c.1605A>C (p.Pro535=) n.285A>C c.*106A>C (n.*106A>C) c.597A>C (p.Pro199=) | |
17 | g.42787406A>G | CA500225462 | WNK4 | c.1605A>G (p.Pro535=) n.285A>G c.*106A>G (n.*106A>G) c.597A>G (p.Pro199=) | |
17 | g.42787406A>T | CA500225463 | WNK4 | c.1605A>T (p.Pro535=) n.285A>T c.*106A>T (n.*106A>T) c.597A>T (p.Pro199=) | |
17 | g.42787407G>A | CA399656846 | WNK4 | c.1606G>A (p.Glu536Lys) n.286G>A c.*107G>A (n.*107G>A) c.598G>A (p.Glu200Lys) | gnomAD v4 |
17 | g.42787407G>C | CA399656849 | WNK4 | c.1606G>C (p.Glu536Gln) n.286G>C c.*107G>C (n.*107G>C) c.598G>C (p.Glu200Gln) | gnomAD v4 |
17 | g.42787407G>T | CA399656851 | WNK4 | c.1606G>T (p.Glu536Ter) n.286G>T c.*107G>T (n.*107G>T) c.598G>T (p.Glu200Ter) | |
17 | g.42787408A= | CA2260641875 | WNK4 | c.1607A= (p.Glu536=) n.287A= c.*108A= (n.*108A=) c.599A= (p.Glu200=) | |
17 | g.42787408A>C | CA399656854 | WNK4 | c.1607A>C (p.Glu536Ala) n.287A>C c.*108A>C (n.*108A>C) c.599A>C (p.Glu200Ala) |