UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 17 | g.42787408A>G | CA399656855 | WNK4 | c.1607A>G (p.Glu536Gly) n.287A>G c.*108A>G (n.*108A>G) c.599A>G (p.Glu200Gly) | |
| 17 | g.42787408A>T | CA399656856 | WNK4 | c.1607A>T (p.Glu536Val) n.287A>T c.*108A>T (n.*108A>T) c.599A>T (p.Glu200Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42787409G>A | CA500225464 | WNK4 | c.1608G>A (p.Glu536=) n.288G>A c.*109G>A (n.*109G>A) c.600G>A (p.Glu200=) | gnomAD v4 |
| 17 | g.42787409G>C | CA399656858 | WNK4 | c.1608G>C (p.Glu536Asp) n.288G>C c.*109G>C (n.*109G>C) c.600G>C (p.Glu200Asp) | |
| 17 | g.42787409G>T | CA399656860 | WNK4 | c.1608G>T (p.Glu536Asp) n.288G>T c.*109G>T (n.*109G>T) c.600G>T (p.Glu200Asp) | |
| 17 | g.42787410C>A | CA399656864 | WNK4 | c.1609C>A (p.Pro537Thr) n.289C>A c.*110C>A (n.*110C>A) c.601C>A (p.Pro201Thr) | |
| 17 | g.42787410C>G | CA399656865 | WNK4 | c.1609C>G (p.Pro537Ala) n.289C>G c.*110C>G (n.*110C>G) c.601C>G (p.Pro201Ala) | |
| 17 | g.42787410C>T | CA399656866 | WNK4 | c.1609C>T (p.Pro537Ser) n.289C>T c.*110C>T (n.*110C>T) c.601C>T (p.Pro201Ser) | dbSNP COSMIC COSMIC |
| 17 | g.42787411C>A | CA8584034 | WNK4 | c.1610C>A (p.Pro537Gln) n.290C>A c.*111C>A (n.*111C>A) c.602C>A (p.Pro201Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42787411C= | CA2260641876 | WNK4 | c.1610C= (p.Pro537=) n.290C= c.*111C= (n.*111C=) c.602C= (p.Pro201=) | |
| 17 | g.42787411C>G | CA399656869 | WNK4 | c.1610C>G (p.Pro537Arg) n.290C>G c.*111C>G (n.*111C>G) c.602C>G (p.Pro201Arg) | gnomAD v4 |
| 17 | g.42787411C>T | CA399656871 | WNK4 | c.1610C>T (p.Pro537Leu) n.290C>T c.*111C>T (n.*111C>T) c.602C>T (p.Pro201Leu) | |
| 17 | g.42787412A>C | CA500225466 | WNK4 | c.1611A>C (p.Pro537=) n.291A>C c.*112A>C (n.*112A>C) c.603A>C (p.Pro201=) | |
| 17 | g.42787412A>G | CA500225467 | WNK4 | c.1611A>G (p.Pro537=) n.291A>G c.*112A>G (n.*112A>G) c.603A>G (p.Pro201=) | |
| 17 | g.42787412A>T | CA500225468 | WNK4 | c.1611A>T (p.Pro537=) n.291A>T c.*112A>T (n.*112A>T) c.603A>T (p.Pro201=) | |
| 17 | g.42787413G>A | CA399656874 | WNK4 | c.1612G>A (p.Gly538Arg) n.292G>A c.*113G>A (n.*113G>A) c.604G>A (p.Gly202Arg) | |
| 17 | g.42787413G>C | CA399656877 | WNK4 | c.1612G>C (p.Gly538Arg) n.292G>C c.*113G>C (n.*113G>C) c.604G>C (p.Gly202Arg) | |
| 17 | g.42787413G>T | CA399656882 | WNK4 | c.1612G>T (p.Gly538Ter) n.292G>T c.*113G>T (n.*113G>T) c.604G>T (p.Gly202Ter) | |
| 17 | g.42787414G>A | CA290785069 | WNK4 | c.1613G>A (p.Gly538Glu) n.293G>A c.*114G>A (n.*114G>A) c.605G>A (p.Gly202Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.42787414G>C | CA399656887 | WNK4 | c.1613G>C (p.Gly538Ala) n.293G>C c.*114G>C (n.*114G>C) c.605G>C (p.Gly202Ala) | |
| 17 | g.42787414G= | CA2260641877 | WNK4 | c.1613G= (p.Gly538=) n.293G= c.*114G= (n.*114G=) c.605G= (p.Gly202=) | |
| 17 | g.42787414G>T | CA399656889 | WNK4 | c.1613G>T (p.Gly538Val) n.293G>T c.*114G>T (n.*114G>T) c.605G>T (p.Gly202Val) | |
| 17 | g.42787414_42787415delinsGA | CA2260641878 | WNK4 | c.1613_1614delinsGA (p.Gly538=) n.293_294delinsGA c.*114_*115delinsGA (n.*114_*115delinsGA) c.605_606delinsGA (p.Gly202=) | |
| 17 | g.42787415del | CA913012326 | WNK4 | c.1614del (p.Pro539LeufsTer?) n.294del c.*115del (n.*115del) c.606del (p.Pro203LeufsTer?) | dbSNP gnomAD v4 |
| 17 | g.42787415A>C | CA500225474 | WNK4 | c.1614A>C (p.Gly538=) n.294A>C c.*115A>C (n.*115A>C) c.606A>C (p.Gly202=) | gnomAD v4 |
| 17 | g.42787415A>G | CA500225472 | WNK4 | c.1614A>G (p.Gly538=) n.294A>G c.*115A>G (n.*115A>G) c.606A>G (p.Gly202=) | |
| 17 | g.42787415A>T | CA500225473 | WNK4 | c.1614A>T (p.Gly538=) n.294A>T c.*115A>T (n.*115A>T) c.606A>T (p.Gly202=) | |
| 17 | g.42787416C>A | CA399656893 | WNK4 | c.1615C>A (p.Pro539Thr) n.295C>A c.*116C>A (n.*116C>A) c.607C>A (p.Pro203Thr) | |
| 17 | g.42787416C= | CA2260641879 | WNK4 | c.1615C= (p.Pro539=) n.295C= c.*116C= (n.*116C=) c.607C= (p.Pro203=) | |
| 17 | g.42787416C>G | CA399656900 | WNK4 | c.1615C>G (p.Pro539Ala) n.295C>G c.*116C>G (n.*116C>G) c.607C>G (p.Pro203Ala) | |
| 17 | g.42787416C>T | CA8584035 | WNK4 | c.1615C>T (p.Pro539Ser) n.295C>T c.*116C>T (n.*116C>T) c.607C>T (p.Pro203Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787417C>A | CA399656904 | WNK4 | c.1616C>A (p.Pro539His) n.296C>A c.*117C>A (n.*117C>A) c.608C>A (p.Pro203His) | |
| 17 | g.42787417C= | CA2260641880 | WNK4 | c.1616C= (p.Pro539=) n.296C= c.*117C= (n.*117C=) c.608C= (p.Pro203=) | |
| 17 | g.42787417C>G | CA399656912 | WNK4 | c.1616C>G (p.Pro539Arg) n.296C>G c.*117C>G (n.*117C>G) c.608C>G (p.Pro203Arg) | gnomAD v4 |
| 17 | g.42787417C>T | CA8584036 | WNK4 | c.1616C>T (p.Pro539Leu) n.296C>T c.*117C>T (n.*117C>T) c.608C>T (p.Pro203Leu) | dbSNP ExAC gnomAD v2 |
| 17 | g.42787418T>A | CA500225477 | WNK4 | c.1617T>A (p.Pro539=) n.297T>A c.*118T>A (n.*118T>A) c.609T>A (p.Pro203=) | |
| 17 | g.42787418T>C | CA500225478 | WNK4 | c.1617T>C (p.Pro539=) n.297T>C c.*118T>C (n.*118T>C) c.609T>C (p.Pro203=) | |
| 17 | g.42787418T>G | CA500225479 | WNK4 | c.1617T>G (p.Pro539=) n.297T>G c.*118T>G (n.*118T>G) c.609T>G (p.Pro203=) | |
| 17 | g.42787419C>A | CA399656917 | WNK4 | c.1618C>A (p.Pro540Thr) n.298C>A c.*119C>A (n.*119C>A) c.610C>A (p.Pro204Thr) | |
| 17 | g.42787419C>G | CA399656919 | WNK4 | c.1618C>G (p.Pro540Ala) n.298C>G c.*119C>G (n.*119C>G) c.610C>G (p.Pro204Ala) | |
| 17 | g.42787419C>T | CA399656922 | WNK4 | c.1618C>T (p.Pro540Ser) n.298C>T c.*119C>T (n.*119C>T) c.610C>T (p.Pro204Ser) | |
| 17 | g.42787420C>A | CA399656929 | WNK4 | c.1619C>A (p.Pro540Gln) n.299C>A c.*120C>A (n.*120C>A) c.611C>A (p.Pro204Gln) | |
| 17 | g.42787420C>G | CA399656927 | WNK4 | c.1619C>G (p.Pro540Arg) n.299C>G c.*120C>G (n.*120C>G) c.611C>G (p.Pro204Arg) | |
| 17 | g.42787420C>T | CA399656925 | WNK4 | c.1619C>T (p.Pro540Leu) n.299C>T c.*120C>T (n.*120C>T) c.611C>T (p.Pro204Leu) | |
| 17 | g.42787421A= | CA2260641881 | WNK4 | c.1620A= (p.Pro540=) n.300A= c.*121A= (n.*121A=) c.612A= (p.Pro204=) | |
| 17 | g.42787421A>C | CA500225419 | WNK4 | c.1620A>C (p.Pro540=) n.300A>C c.*121A>C (n.*121A>C) c.612A>C (p.Pro204=) | dbSNP |
| 17 | g.42787421A>G | CA500225421 | WNK4 | c.1620A>G (p.Pro540=) n.300A>G c.*121A>G (n.*121A>G) c.612A>G (p.Pro204=) | |
| 17 | g.42787421A>T | CA500225422 | WNK4 | c.1620A>T (p.Pro540=) n.300A>T c.*121A>T (n.*121A>T) c.612A>T (p.Pro204=) | |
| 17 | g.42787422C>A | CA399656931 | WNK4 | c.1621C>A (p.Pro541Thr) n.301C>A c.*122C>A (n.*122C>A) c.613C>A (p.Pro205Thr) | |
| 17 | g.42787422C= | CA2260641882 | WNK4 | c.1621C= (p.Pro541=) n.301C= c.*122C= (n.*122C=) c.613C= (p.Pro205=) | |
| 17 | g.42787422C>G | CA399656934 | WNK4 | c.1621C>G (p.Pro541Ala) n.301C>G c.*122C>G (n.*122C>G) c.613C>G (p.Pro205Ala) | dbSNP |
| 17 | g.42787422C>T | CA399656938 | WNK4 | c.1621C>T (p.Pro541Ser) n.301C>T c.*122C>T (n.*122C>T) c.613C>T (p.Pro205Ser) | |
| 17 | g.42787423C>A | CA399656943 | WNK4 | c.1622C>A (p.Pro541Gln) n.302C>A c.*123C>A (n.*123C>A) c.614C>A (p.Pro205Gln) | |
| 17 | g.42787423C>G | CA399656946 | WNK4 | c.1622C>G (p.Pro541Arg) n.302C>G c.*123C>G (n.*123C>G) c.614C>G (p.Pro205Arg) | |
| 17 | g.42787423C>T | CA399656953 | WNK4 | c.1622C>T (p.Pro541Leu) n.302C>T c.*123C>T (n.*123C>T) c.614C>T (p.Pro205Leu) | |
| 17 | g.42787424A= | CA2260641883 | WNK4 | c.1623A= (p.Pro541=) n.303A= c.*124A= (n.*124A=) c.615A= (p.Pro205=) | |
| 17 | g.42787424A>C | CA500225425 | WNK4 | c.1623A>C (p.Pro541=) n.303A>C c.*124A>C (n.*124A>C) c.615A>C (p.Pro205=) | |
| 17 | g.42787424A>G | CA290785077 | WNK4 | c.1623A>G (p.Pro541=) n.303A>G c.*124A>G (n.*124A>G) c.615A>G (p.Pro205=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787424A>T | CA500225426 | WNK4 | c.1623A>T (p.Pro541=) n.303A>T c.*124A>T (n.*124A>T) c.615A>T (p.Pro205=) | |
| 17 | g.42787425G>A | CA399656958 | WNK4 | c.1624G>A (p.Ala542Thr) n.304G>A c.*125G>A (n.*125G>A) c.616G>A (p.Ala206Thr) | |
| 17 | g.42787425G>C | CA399656968 | WNK4 | c.1624G>C (p.Ala542Pro) n.304G>C c.*125G>C (n.*125G>C) c.616G>C (p.Ala206Pro) | |
| 17 | g.42787425G>T | CA399656961 | WNK4 | c.1624G>T (p.Ala542Ser) n.304G>T c.*125G>T (n.*125G>T) c.616G>T (p.Ala206Ser) | |
| 17 | g.42787426C>A | CA399656972 | WNK4 | c.1625C>A (p.Ala542Glu) n.305C>A c.*126C>A (n.*126C>A) c.617C>A (p.Ala206Glu) | |
| 17 | g.42787426C>G | CA399656975 | WNK4 | c.1625C>G (p.Ala542Gly) n.305C>G c.*126C>G (n.*126C>G) c.617C>G (p.Ala206Gly) | |
| 17 | g.42787426C>T | CA399656976 | WNK4 | c.1625C>T (p.Ala542Val) n.305C>T c.*126C>T (n.*126C>T) c.617C>T (p.Ala206Val) | |
| 17 | g.42787427A>C | CA500225434 | WNK4 | c.1626A>C (p.Ala542=) n.306A>C c.*127A>C (n.*127A>C) c.618A>C (p.Ala206=) | |
| 17 | g.42787427A>G | CA500225430 | WNK4 | c.1626A>G (p.Ala542=) n.306A>G c.*127A>G (n.*127A>G) c.618A>G (p.Ala206=) | |
| 17 | g.42787427A>T | CA500225432 | WNK4 | c.1626A>T (p.Ala542=) n.306A>T c.*127A>T (n.*127A>T) c.618A>T (p.Ala206=) | |
| 17 | g.42787428A= | CA2260641884 | WNK4 | c.1627A= (p.Thr543=) n.307A= c.*128A= (n.*128A=) c.619A= (p.Thr207=) | |
| 17 | g.42787428A>C | CA399656977 | WNK4 | c.1627A>C (p.Thr543Pro) n.307A>C c.*128A>C (n.*128A>C) c.619A>C (p.Thr207Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42787428A>G | CA399656978 | WNK4 | c.1627A>G (p.Thr543Ala) n.307A>G c.*128A>G (n.*128A>G) c.619A>G (p.Thr207Ala) | gnomAD v4 |
| 17 | g.42787428A>T | CA399656980 | WNK4 | c.1627A>T (p.Thr543Ser) n.307A>T c.*128A>T (n.*128A>T) c.619A>T (p.Thr207Ser) | |
| 17 | g.42787429C>A | CA399656981 | WNK4 | c.1628C>A (p.Thr543Asn) n.308C>A c.*129C>A (n.*129C>A) c.620C>A (p.Thr207Asn) | |
| 17 | g.42787429C>G | CA399656982 | WNK4 | c.1628C>G (p.Thr543Ser) n.308C>G c.*129C>G (n.*129C>G) c.620C>G (p.Thr207Ser) | |
| 17 | g.42787429C>T | CA399656985 | WNK4 | c.1628C>T (p.Thr543Ile) n.308C>T c.*129C>T (n.*129C>T) c.620C>T (p.Thr207Ile) | |
| 17 | g.42787430T>A | CA500225437 | WNK4 | c.1629T>A (p.Thr543=) n.309T>A c.*130T>A (n.*130T>A) c.621T>A (p.Thr207=) | |
| 17 | g.42787430T>C | CA500225439 | WNK4 | c.1629T>C (p.Thr543=) n.309T>C c.*130T>C (n.*130T>C) c.621T>C (p.Thr207=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787430T>G | CA500225440 | WNK4 | c.1629T>G (p.Thr543=) n.309T>G c.*130T>G (n.*130T>G) c.621T>G (p.Thr207=) | |
| 17 | g.42787430T= | CA2260641885 | WNK4 | c.1629T= (p.Thr543=) n.309T= c.*130T= (n.*130T=) c.621T= (p.Thr207=) | |
| 17 | g.42787432_42787433del | CA645572785 | WNK4 | c.1631_1632del (p.Val544AlafsTer13) n.311_312del c.*132_*133del (n.*132_*133del) c.623_624del (p.Val208AlafsTer13) | COSMIC COSMIC |
| 17 | g.42787431G>A | CA8584037 | WNK4 | c.1630G>A (p.Val544Met) n.310G>A c.*131G>A (n.*131G>A) c.622G>A (p.Val208Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42787431G>C | CA399656988 | WNK4 | c.1630G>C (p.Val544Leu) n.310G>C c.*131G>C (n.*131G>C) c.622G>C (p.Val208Leu) | |
| 17 | g.42787431G= | CA2260641886 | WNK4 | c.1630G= (p.Val544=) n.310G= c.*131G= (n.*131G=) c.622G= (p.Val208=) | |
| 17 | g.42787431G>T | CA399656990 | WNK4 | c.1630G>T (p.Val544Leu) n.310G>T c.*131G>T (n.*131G>T) c.622G>T (p.Val208Leu) | |
| 17 | g.42787432T>A | CA399656993 | WNK4 | c.1631T>A (p.Val544Glu) n.311T>A c.*132T>A (n.*132T>A) c.623T>A (p.Val208Glu) | |
| 17 | g.42787432T>C | CA399656995 | WNK4 | c.1631T>C (p.Val544Ala) n.311T>C c.*132T>C (n.*132T>C) c.623T>C (p.Val208Ala) | gnomAD v4 |
| 17 | g.42787432T>G | CA399656994 | WNK4 | c.1631T>G (p.Val544Gly) n.311T>G c.*132T>G (n.*132T>G) c.623T>G (p.Val208Gly) | |
| 17 | g.42787433G>A | CA500225442 | WNK4 | c.1632G>A (p.Val544=) n.312G>A c.*133G>A (n.*133G>A) c.624G>A (p.Val208=) | gnomAD v4 |
| 17 | g.42787433G>C | CA500225444 | WNK4 | c.1632G>C (p.Val544=) n.312G>C c.*133G>C (n.*133G>C) c.624G>C (p.Val208=) | |
| 17 | g.42787433G>T | CA500225448 | WNK4 | c.1632G>T (p.Val544=) n.312G>T c.*133G>T (n.*133G>T) c.624G>T (p.Val208=) | |
| 17 | g.42787434C>A | CA399656998 | WNK4 | c.1633C>A (p.Pro545Thr) n.313C>A c.*134C>A (n.*134C>A) c.625C>A (p.Pro209Thr) | |
| 17 | g.42787434C>G | CA399657001 | WNK4 | c.1633C>G (p.Pro545Ala) n.313C>G c.*134C>G (n.*134C>G) c.625C>G (p.Pro209Ala) | |
| 17 | g.42787434C>T | CA399657006 | WNK4 | c.1633C>T (p.Pro545Ser) n.313C>T c.*134C>T (n.*134C>T) c.625C>T (p.Pro209Ser) | |
| 17 | g.42787435C>A | CA399657009 | WNK4 | c.1634C>A (p.Pro545His) n.314C>A c.*135C>A (n.*135C>A) c.626C>A (p.Pro209His) | |
| 17 | g.42787435C>G | CA399657011 | WNK4 | c.1634C>G (p.Pro545Arg) n.314C>G c.*135C>G (n.*135C>G) c.626C>G (p.Pro209Arg) | |
| 17 | g.42787435C>T | CA399657016 | WNK4 | c.1634C>T (p.Pro545Leu) n.314C>T c.*135C>T (n.*135C>T) c.626C>T (p.Pro209Leu) | |
| 17 | g.42787436C>A | CA500225454 | WNK4 | c.1635C>A (p.Pro545=) n.315C>A c.*136C>A (n.*136C>A) c.627C>A (p.Pro209=) | |
| 17 | g.42787436C= | CA2260641887 | WNK4 | c.1635C= (p.Pro545=) n.315C= c.*136C= (n.*136C=) c.627C= (p.Pro209=) | |
| 17 | g.42787436C>G | CA500225456 | WNK4 | c.1635C>G (p.Pro545=) n.315C>G c.*136C>G (n.*136C>G) c.627C>G (p.Pro209=) | |
| 17 | g.42787436C>T | CA500225455 | WNK4 | c.1635C>T (p.Pro545=) n.315C>T c.*136C>T (n.*136C>T) c.627C>T (p.Pro209=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42787437A= | CA2260641888 | WNK4 | c.1636A= (p.Met546=) n.316A= c.*137A= (n.*137A=) c.628A= (p.Met210=) | |
| 17 | g.42787437A>C | CA8584038 | WNK4 | c.1636A>C (p.Met546Leu) n.316A>C c.*137A>C (n.*137A>C) c.628A>C (p.Met210Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42787437A>G | CA399657022 | WNK4 | c.1636A>G (p.Met546Val) n.316A>G c.*137A>G (n.*137A>G) c.628A>G (p.Met210Val) | dbSNP gnomAD v4 |
| 17 | g.42787437A>T | CA399657024 | WNK4 | c.1636A>T (p.Met546Leu) n.316A>T c.*137A>T (n.*137A>T) c.628A>T (p.Met210Leu) | |
| 17 | g.42787437_42787438insGGGGGGGGGGGGGGGGGGG | CA2733784814 | WNK4 | c.1636_1637insGGGGGGGGGGGGGGGGGGG (p.Met546ArgfsTer18) n.316_317insGGGGGGGGGGGGGGGGGGG c.*137_*138insGGGGGGGGGGGGGGGGGGG (n.*137_*138insGGGGGGGGGGGGGGGGGGG) c.628_629insGGGGGGGGGGGGGGGGGGG (p.Met210ArgfsTer18) | dbSNP |
| 17 | g.42787438T>A | CA399657025 | WNK4 | c.1637T>A (p.Met546Lys) n.317T>A c.*138T>A (n.*138T>A) c.629T>A (p.Met210Lys) | |
| 17 | g.42787438T>C | CA399657028 | WNK4 | c.1637T>C (p.Met546Thr) n.317T>C c.*138T>C (n.*138T>C) c.629T>C (p.Met210Thr) | |
| 17 | g.42787438T>G | CA399657033 | WNK4 | c.1637T>G (p.Met546Arg) n.317T>G c.*138T>G (n.*138T>G) c.629T>G (p.Met210Arg) | dbSNP gnomAD v4 |
| 17 | g.42787439G>A | CA399657047 | WNK4 | c.1638G>A (p.Met546Ile) n.318G>A c.*139G>A (n.*139G>A) c.630G>A (p.Met210Ile) | |
| 17 | g.42787439G>C | CA399657038 | WNK4 | c.1638G>C (p.Met546Ile) n.318G>C c.*139G>C (n.*139G>C) c.630G>C (p.Met210Ile) | |
| 17 | g.42787439G>T | CA399657041 | WNK4 | c.1638G>T (p.Met546Ile) n.318G>T c.*139G>T (n.*139G>T) c.630G>T (p.Met210Ile) | |
| 17 | g.42787440_42787441insGGGGGGGGGGGGG | CA2733784822 | WNK4 | c.1639_1640insGGGGGGGGGGGGG (p.Ala547GlyfsTer15) n.319_320insGGGGGGGGGGGGG c.*140_*141insGGGGGGGGGGGGG (n.*140_*141insGGGGGGGGGGGGG) c.631_632insGGGGGGGGGGGGG (p.Ala211GlyfsTer15) | dbSNP |
| 17 | g.42787440_42787441insGGGGGGGGGGGGGGGGGGGGGG | CA2733784887 | WNK4 | c.1639_1640insGGGGGGGGGGGGGGGGGGGGGG (p.Ala547GlyfsTer18) n.319_320insGGGGGGGGGGGGGGGGGGGGGG c.*140_*141insGGGGGGGGGGGGGGGGGGGGGG (n.*140_*141insGGGGGGGGGGGGGGGGGGGGGG) c.631_632insGGGGGGGGGGGGGGGGGGGGGG (p.Ala211GlyfsTer18) | dbSNP |
| 17 | g.42787439_42787447dup | CA2638017042 | WNK4 | c.1638_1646dup (p.Gly549_Pro550insAlaProGly) n.318_326dup c.*139_*147dup (n.*139_*147dup) c.630_638dup (p.Gly213_Pro214insAlaProGly) | gnomAD v4 |
| 17 | g.42787440G>A | CA399657054 | WNK4 | c.1639G>A (p.Ala547Thr) n.319G>A c.*140G>A (n.*140G>A) c.631G>A (p.Ala211Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42787440G>C | CA399657056 | WNK4 | c.1639G>C (p.Ala547Pro) n.319G>C c.*140G>C (n.*140G>C) c.631G>C (p.Ala211Pro) | |
| 17 | g.42787440G= | CA2260641889 | WNK4 | c.1639G= (p.Ala547=) n.319G= c.*140G= (n.*140G=) c.631G= (p.Ala211=) | |
| 17 | g.42787440G>T | CA399657060 | WNK4 | c.1639G>T (p.Ala547Ser) n.319G>T c.*140G>T (n.*140G>T) c.631G>T (p.Ala211Ser) | |
| 17 | g.42787441C>A | CA8584040 | WNK4 | c.1640C>A (p.Ala547Asp) n.320C>A c.*141C>A (n.*141C>A) c.632C>A (p.Ala211Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787441C= | CA2260641890 | WNK4 | c.1640C= (p.Ala547=) n.320C= c.*141C= (n.*141C=) c.632C= (p.Ala211=) | |
| 17 | g.42787441C>G | CA399657067 | WNK4 | c.1640C>G (p.Ala547Gly) n.320C>G c.*141C>G (n.*141C>G) c.632C>G (p.Ala211Gly) | gnomAD v4 |
| 17 | g.42787441C>T | CA8584039 | WNK4 | c.1640C>T (p.Ala547Val) n.320C>T c.*141C>T (n.*141C>T) c.632C>T (p.Ala211Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787445dup | CA2809532571 | WNK4 | c.1644dup (p.Gly549ArgfsTer9) n.324dup c.*145dup (n.*145dup) c.636dup (p.Gly213ArgfsTer9) | |
| 17 | g.42787445del | CA2638017043 | WNK4 | c.1644del (p.Gly549ValfsTer?) n.324del c.*145del (n.*145del) c.636del (p.Gly213ValfsTer?) | gnomAD v4 |
| 17 | g.42787442C>A | CA8584042 | WNK4 | c.1641C>A (p.Ala547=) n.321C>A c.*142C>A (n.*142C>A) c.633C>A (p.Ala211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42787442C= | CA2260641891 | WNK4 | c.1641C= (p.Ala547=) n.321C= c.*142C= (n.*142C=) c.633C= (p.Ala211=) | |
| 17 | g.42787442C>G | CA500225465 | WNK4 | c.1641C>G (p.Ala547=) n.321C>G c.*142C>G (n.*142C>G) c.633C>G (p.Ala211=) | gnomAD v4 |
| 17 | g.42787442C>T | CA8584041 | WNK4 | c.1641C>T (p.Ala547=) n.321C>T c.*142C>T (n.*142C>T) c.633C>T (p.Ala211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787443C>A | CA399657080 | WNK4 | c.1642C>A (p.Pro548Thr) n.322C>A c.*143C>A (n.*143C>A) c.634C>A (p.Pro212Thr) | |
| 17 | g.42787443C= | CA2260641892 | WNK4 | c.1642C= (p.Pro548=) n.322C= c.*143C= (n.*143C=) c.634C= (p.Pro212=) | |
| 17 | g.42787443C>G | CA8584043 | WNK4 | c.1642C>G (p.Pro548Ala) n.322C>G c.*143C>G (n.*143C>G) c.634C>G (p.Pro212Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42787443C>T | CA399657084 | WNK4 | c.1642C>T (p.Pro548Ser) n.322C>T c.*143C>T (n.*143C>T) c.634C>T (p.Pro212Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42787444C>A | CA399657089 | WNK4 | c.1643C>A (p.Pro548His) n.323C>A c.*144C>A (n.*144C>A) c.635C>A (p.Pro212His) | |
| 17 | g.42787444C= | CA2260641893 | WNK4 | c.1643C= (p.Pro548=) n.323C= c.*144C= (n.*144C=) c.635C= (p.Pro212=) | |
| 17 | g.42787444C>G | CA399657096 | WNK4 | c.1643C>G (p.Pro548Arg) n.323C>G c.*144C>G (n.*144C>G) c.635C>G (p.Pro212Arg) | gnomAD v4 |
| 17 | g.42787444C>T | CA399657094 | WNK4 | c.1643C>T (p.Pro548Leu) n.323C>T c.*144C>T (n.*144C>T) c.635C>T (p.Pro212Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42787445C>A | CA500225475 | WNK4 | c.1644C>A (p.Pro548=) n.324C>A c.*145C>A (n.*145C>A) c.636C>A (p.Pro212=) | gnomAD v4 |
| 17 | g.42787445C= | CA2260641894 | WNK4 | c.1644C= (p.Pro548=) n.324C= c.*145C= (n.*145C=) c.636C= (p.Pro212=) | |
| 17 | g.42787445C>G | CA500225476 | WNK4 | c.1644C>G (p.Pro548=) n.324C>G c.*145C>G (n.*145C>G) c.636C>G (p.Pro212=) | dbSNP |
| 17 | g.42787445C>T | CA8584044 | WNK4 | c.1644C>T (p.Pro548=) n.324C>T c.*145C>T (n.*145C>T) c.636C>T (p.Pro212=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787447_42787448insGGGGCGG | CA2638017044 | WNK4 | c.1646_1647insGGGGCGG (p.Pro550GlyfsTer10) n.326_327insGGGGCGG c.*147_*148insGGGGCGG (n.*147_*148insGGGGCGG) c.638_639insGGGGCGG (p.Pro214GlyfsTer10) | gnomAD v4 |
| 17 | g.42787446G>A | CA8584045 | WNK4 | c.1645G>A (p.Gly549Ser) n.325G>A c.*146G>A (n.*146G>A) c.637G>A (p.Gly213Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787446G>C | CA399657104 | WNK4 | c.1645G>C (p.Gly549Arg) n.325G>C c.*146G>C (n.*146G>C) c.637G>C (p.Gly213Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42787446G= | CA2260641895 | WNK4 | c.1645G= (p.Gly549=) n.325G= c.*146G= (n.*146G=) c.637G= (p.Gly213=) | |
| 17 | g.42787446G>T | CA399657108 | WNK4 | c.1645G>T (p.Gly549Cys) n.325G>T c.*146G>T (n.*146G>T) c.637G>T (p.Gly213Cys) | dbSNP |
| 17 | g.42787447_42787448insGGGGG | CA2809532576 | WNK4 | c.1646_1647insGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGG c.*147_*148insGGGGG (n.*147_*148insGGGGG) c.638_639insGGGGG (p.Pro214GlyfsTer?) | |
| 17 | g.42787447_42787448insGGGGGG | CA2638017092 | WNK4 | c.1646_1647insGGGGGG (p.Gly549_Pro550insGlyGly) n.326_327insGGGGGG c.*147_*148insGGGGGG (n.*147_*148insGGGGGG) c.638_639insGGGGGG (p.Gly213_Pro214insGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGG | CA2638017091 | WNK4 | c.1646_1647insGGGGGGG (p.Pro550GlyfsTer10) n.326_327insGGGGGGG c.*147_*148insGGGGGGG (n.*147_*148insGGGGGGG) c.638_639insGGGGGGG (p.Pro214GlyfsTer10) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGG | CA2638017089 | WNK4 | c.1646_1647insGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGG c.*147_*148insGGGGGGGG (n.*147_*148insGGGGGGGG) c.638_639insGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGG | CA2638017086 | WNK4 | c.1646_1647insGGGGGGGGG (p.Gly549_Pro550insGlyGlyGly) n.326_327insGGGGGGGGG c.*147_*148insGGGGGGGGG (n.*147_*148insGGGGGGGGG) c.638_639insGGGGGGGGG (p.Gly213_Pro214insGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGG | CA2638017085 | WNK4 | c.1646_1647insGGGGGGGGGG (p.Pro550GlyfsTer11) n.326_327insGGGGGGGGGG c.*147_*148insGGGGGGGGGG (n.*147_*148insGGGGGGGGGG) c.638_639insGGGGGGGGGG (p.Pro214GlyfsTer11) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGG | CA2638017084 | WNK4 | c.1646_1647insGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGG c.*147_*148insGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGG) c.638_639insGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGG | CA2638017083 | WNK4 | c.1646_1647insGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGly) n.326_327insGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGG | CA2638017082 | WNK4 | c.1646_1647insGGGGGGGGGGGGG (p.Pro550GlyfsTer12) n.326_327insGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGG (p.Pro214GlyfsTer12) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGG | CA2638017081 | WNK4 | c.1646_1647insGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGG | CA2638017080 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGG | CA2638017079 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGG | CA2638017096 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGTGGGGGG | CA2638017073 | WNK4 | c.1646_1647insGGGGGGGGGGGTGGGGGG (p.Gly549_Pro550insGlyGlyGlyValGlyGly) n.326_327insGGGGGGGGGGGTGGGGGG c.*147_*148insGGGGGGGGGGGTGGGGGG (n.*147_*148insGGGGGGGGGGGTGGGGGG) c.638_639insGGGGGGGGGGGTGGGGGG (p.Gly213_Pro214insGlyGlyGlyValGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGG | CA2638017095 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer14) n.326_327insGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer14) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGG | CA2638017106 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGG | CA2638017109 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGly) | dbSNP gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGTGGGGGGGG | CA2638017072 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGTGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGTGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGTGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGTGGGGGGGG) c.638_639insGGGGGGGGGGGGGGTGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGG | CA2638017107 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017108 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGCGGGGGGGGGGGGGGGGGGGG | CA2638017093 | WNK4 | c.1646_1647insGGGCGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGCGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGCGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGCGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGCGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017103 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer16) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer16) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGCGGGGGGGGGGGGGGGGGGGGG | CA2638017090 | WNK4 | c.1646_1647insGGGGGCGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyAlaGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGCGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGCGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGCGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGCGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyAlaGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2809532575 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGly) | |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017104 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer17) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer17) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA1139771491 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017102 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGG | CA2638017088 | WNK4 | c.1646_1647insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017101 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer18) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer18) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG | CA2638017074 | WNK4 | c.1646_1647insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017100 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017099 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017098 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer19) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer19) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017097 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017087 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017076 | WNK4 | c.1646_1647insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2809532572 | WNK4 | c.1646_1647insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer20) n.326_327insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer20) | |
| 17 | g.42787447_42787448insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017078 | WNK4 | c.1646_1647insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer20) n.326_327insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer20) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017094 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017063 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer21) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer21) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017077 | WNK4 | c.1646_1647insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer21) n.326_327insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer21) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017061 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA1139532259 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017105 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyAlaGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyAlaGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017059 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer22) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer22) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017058 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017057 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017075 | WNK4 | c.1646_1647insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer23) n.326_327insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer23) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017056 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer23) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer23) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017055 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017054 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer24) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer24) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017053 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017052 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017051 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer25) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer25) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017050 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017049 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2809532574 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer26) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer26) | |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017064 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017065 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2809532573 | WNK4 | c.1646_1647insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer27) n.326_327insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer27) | |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017066 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017067 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017068 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer28) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer28) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017069 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017070 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer29) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer29) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017062 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer29) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer29) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017071 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447G>A | CA399657112 | WNK4 | c.1646G>A (p.Gly549Asp) n.326G>A c.*147G>A (n.*147G>A) c.638G>A (p.Gly213Asp) | |
| 17 | g.42787447G>C | CA399657116 | WNK4 | c.1646G>C (p.Gly549Ala) n.326G>C c.*147G>C (n.*147G>C) c.638G>C (p.Gly213Ala) | dbSNP |
| 17 | g.42787447G= | CA2260641896 | WNK4 | c.1646G= (p.Gly549=) n.326G= c.*147G= (n.*147G=) c.638G= (p.Gly213=) | |
| 17 | g.42787447G>T | CA399657119 | WNK4 | c.1646G>T (p.Gly549Val) n.326G>T c.*147G>T (n.*147G>T) c.638G>T (p.Gly213Val) | |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG | CA2638017110 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG (p.Pro550GlyfsTer?) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG | CA2638017111 | WNK4 | c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG (p.Pro550GlyfsTer22) n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG) c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG (p.Pro214GlyfsTer22) | gnomAD v4 |
| 17 | g.42787448T>A | CA500225483 | WNK4 | c.1647T>A (p.Gly549=) n.327T>A c.*148T>A (n.*148T>A) c.639T>A (p.Gly213=) | |
| 17 | g.42787448T>C | CA500225485 | WNK4 | c.1647T>C (p.Gly549=) n.327T>C c.*148T>C (n.*148T>C) c.639T>C (p.Gly213=) | dbSNP |
| 17 | g.42787448T>G | CA500225484 | WNK4 | c.1647T>G (p.Gly549=) n.327T>G c.*148T>G (n.*148T>G) c.639T>G (p.Gly213=) | gnomAD v3 gnomAD v4 |
| 17 | g.42787448T= | CA2260641897 | WNK4 | c.1647T= (p.Gly549=) n.327T= c.*148T= (n.*148T=) c.639T= (p.Gly213=) | |
| 17 | g.42787448_42787455del | CA2638017112 | WNK4 | c.1647_1654del (p.Pro550CysfsTer5) n.327_334del c.*148_*155del (n.*148_*155del) c.639_646del (p.Pro214CysfsTer5) | gnomAD v4 |
| 17 | g.42787448_42787449insGGGG | CA2638017119 | WNK4 | c.1647_1648insGGGG (p.Pro550GlyfsTer9) n.327_328insGGGG c.*148_*149insGGGG (n.*148_*149insGGGG) c.639_640insGGGG (p.Pro214GlyfsTer9) | gnomAD v4 |
| 17 | g.42787448_42787449insGGGGG | CA2638017118 | WNK4 | c.1647_1648insGGGGG (p.Pro550GlyfsTer?) n.327_328insGGGGG c.*148_*149insGGGGG (n.*148_*149insGGGGG) c.639_640insGGGGG (p.Pro214GlyfsTer?) | gnomAD v4 |
| 17 | g.42787448_42787449insGGGGGGGGGGGGGGGGGG | CA2809532578 | WNK4 | c.1647_1648insGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGly) n.327_328insGGGGGGGGGGGGGGGGGG c.*148_*149insGGGGGGGGGGGGGGGGGG (n.*148_*149insGGGGGGGGGGGGGGGGGG) c.639_640insGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGly) | |
| 17 | g.42787448_42787449insGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017117 | WNK4 | c.1647_1648insGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer16) n.327_328insGGGGGGGGGGGGGGGGGGGGGGGGG c.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGG) c.639_640insGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer16) | gnomAD v4 |
| 17 | g.42787448_42787449insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017113 | WNK4 | c.1647_1648insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) n.327_328insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.639_640insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly) | gnomAD v4 |
| 17 | g.42787448_42787449insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017115 | WNK4 | c.1647_1648insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer21) n.327_328insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.639_640insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer21) | gnomAD v4 |
| 17 | g.42787448_42787449insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGG | CA2638017116 | WNK4 | c.1647_1648insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGG (p.Pro550GlyfsTer21) n.327_328insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGG c.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGG (n.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGG) c.639_640insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGG (p.Pro214GlyfsTer21) | gnomAD v4 |
| 17 | g.42787448_42787449insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2638017114 | WNK4 | c.1647_1648insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer22) n.327_328insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.639_640insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer22) | gnomAD v4 |
| 17 | g.42787449C>A | CA399657122 | WNK4 | c.1648C>A (p.Pro550Thr) n.328C>A c.*149C>A (n.*149C>A) c.640C>A (p.Pro214Thr) | |
| 17 | g.42787449C= | CA2260641898 | WNK4 | c.1648C= (p.Pro550=) n.328C= c.*149C= (n.*149C=) c.640C= (p.Pro214=) | |
| 17 | g.42787449C>G | CA399657128 | WNK4 | c.1648C>G (p.Pro550Ala) n.328C>G c.*149C>G (n.*149C>G) c.640C>G (p.Pro214Ala) | gnomAD v4 |
| 17 | g.42787449C>T | CA399657130 | WNK4 | c.1648C>T (p.Pro550Ser) n.328C>T c.*149C>T (n.*149C>T) c.640C>T (p.Pro214Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42787454dup | CA2809532577 | WNK4 | c.1653dup (p.Ser552GlnfsTer6) n.333dup c.*154dup (n.*154dup) c.645dup (p.Ser216GlnfsTer6) | |
| 17 | g.42787453_42787454del | CA2809532579 | WNK4 | c.1652_1653del (p.Pro551GlnfsTer6) n.332_333del c.*153_*154del (n.*153_*154del) c.644_645del (p.Pro215GlnfsTer6) | |
| 17 | g.42787450C>A | CA399657133 | WNK4 | c.1649C>A (p.Pro550His) n.329C>A c.*150C>A (n.*150C>A) c.641C>A (p.Pro214His) | |
| 17 | g.42787450C>G | CA399657135 | WNK4 | c.1649C>G (p.Pro550Arg) n.329C>G c.*150C>G (n.*150C>G) c.641C>G (p.Pro214Arg) | gnomAD v4 |
| 17 | g.42787450C>T | CA399657139 | WNK4 | c.1649C>T (p.Pro550Leu) n.329C>T c.*150C>T (n.*150C>T) c.641C>T (p.Pro214Leu) | |
| 17 | g.42787451C>A | CA500225489 | WNK4 | c.1650C>A (p.Pro550=) n.330C>A c.*151C>A (n.*151C>A) c.642C>A (p.Pro214=) | |
| 17 | g.42787451C>G | CA500225487 | WNK4 | c.1650C>G (p.Pro550=) n.330C>G c.*151C>G (n.*151C>G) c.642C>G (p.Pro214=) | |
| 17 | g.42787451C>T | CA500225488 | WNK4 | c.1650C>T (p.Pro550=) n.330C>T c.*151C>T (n.*151C>T) c.642C>T (p.Pro214=) | |
| 17 | g.42787452C>A | CA399657168 | WNK4 | c.1651C>A (p.Pro551Thr) n.331C>A c.*152C>A (n.*152C>A) c.643C>A (p.Pro215Thr) | |
| 17 | g.42787452C>G | CA399657159 | WNK4 | c.1651C>G (p.Pro551Ala) n.331C>G c.*152C>G (n.*152C>G) c.643C>G (p.Pro215Ala) | |
| 17 | g.42787452C>T | CA399657144 | WNK4 | c.1651C>T (p.Pro551Ser) n.331C>T c.*152C>T (n.*152C>T) c.643C>T (p.Pro215Ser) | |
| 17 | g.42787453C>A | CA399657174 | WNK4 | c.1652C>A (p.Pro551His) n.332C>A c.*153C>A (n.*153C>A) c.644C>A (p.Pro215His) | dbSNP gnomAD v4 |
| 17 | g.42787453C= | CA2260641899 | WNK4 | c.1652C= (p.Pro551=) n.332C= c.*153C= (n.*153C=) c.644C= (p.Pro215=) | |
| 17 | g.42787453C>G | CA399657181 | WNK4 | c.1652C>G (p.Pro551Arg) n.332C>G c.*153C>G (n.*153C>G) c.644C>G (p.Pro215Arg) | dbSNP gnomAD v4 |
| 17 | g.42787453C>T | CA399657182 | WNK4 | c.1652C>T (p.Pro551Leu) n.332C>T c.*153C>T (n.*153C>T) c.644C>T (p.Pro215Leu) | |
| 17 | g.42787454C>A | CA500225490 | WNK4 | c.1653C>A (p.Pro551=) n.333C>A c.*154C>A (n.*154C>A) c.645C>A (p.Pro215=) | |
| 17 | g.42787454C= | CA2260641900 | WNK4 | c.1653C= (p.Pro551=) n.333C= c.*154C= (n.*154C=) c.645C= (p.Pro215=) | |
| 17 | g.42787454C>G | CA500225491 | WNK4 | c.1653C>G (p.Pro551=) n.333C>G c.*154C>G (n.*154C>G) c.645C>G (p.Pro215=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42787454C>T | CA8584046 | WNK4 | c.1653C>T (p.Pro551=) n.333C>T c.*154C>T (n.*154C>T) c.645C>T (p.Pro215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787455A= | CA2260641901 | WNK4 | c.1654A= (p.Ser552=) n.334A= c.*155A= (n.*155A=) c.646A= (p.Ser216=) | |
| 17 | g.42787455A>C | CA399657190 | WNK4 | c.1654A>C (p.Ser552Arg) n.334A>C c.*155A>C (n.*155A>C) c.646A>C (p.Ser216Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787455A>G | CA399657193 | WNK4 | c.1654A>G (p.Ser552Gly) n.334A>G c.*155A>G (n.*155A>G) c.646A>G (p.Ser216Gly) | gnomAD v4 |
| 17 | g.42787455A>T | CA399657199 | WNK4 | c.1654A>T (p.Ser552Cys) n.334A>T c.*155A>T (n.*155A>T) c.646A>T (p.Ser216Cys) | |
| 17 | g.42787456G>A | CA399657203 | WNK4 | c.1655G>A (p.Ser552Asn) n.335G>A c.*156G>A (n.*156G>A) c.647G>A (p.Ser216Asn) | |
| 17 | g.42787456G>C | CA8584047 | WNK4 | c.1655G>C (p.Ser552Thr) n.335G>C c.*156G>C (n.*156G>C) c.647G>C (p.Ser216Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42787456G= | CA2260641902 | WNK4 | c.1655G= (p.Ser552=) n.335G= c.*156G= (n.*156G=) c.647G= (p.Ser216=) | |
| 17 | g.42787456G>T | CA399657209 | WNK4 | c.1655G>T (p.Ser552Ile) n.335G>T c.*156G>T (n.*156G>T) c.647G>T (p.Ser216Ile) | gnomAD v4 |
| 17 | g.42787457T>A | CA399657211 | WNK4 | c.1656T>A (p.Ser552Arg) n.336T>A c.*157T>A (n.*157T>A) c.648T>A (p.Ser216Arg) | |
| 17 | g.42787457T>C | CA8584048 | WNK4 | c.1656T>C (p.Ser552=) n.336T>C c.*157T>C (n.*157T>C) c.648T>C (p.Ser216=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787457T>G | CA399657213 | WNK4 | c.1656T>G (p.Ser552Arg) n.336T>G c.*157T>G (n.*157T>G) c.648T>G (p.Ser216Arg) | gnomAD v3 gnomAD v4 |
| 17 | g.42787457T= | CA2260641903 | WNK4 | c.1656T= (p.Ser552=) n.336T= c.*157T= (n.*157T=) c.648T= (p.Ser216=) | |
| 17 | g.42787458G>A | CA399657223 | WNK4 | c.1657G>A (p.Val553Ile) n.337G>A c.*158G>A (n.*158G>A) c.649G>A (p.Val217Ile) | gnomAD v4 |
| 17 | g.42787458G>C | CA399657219 | WNK4 | c.1657G>C (p.Val553Leu) n.337G>C c.*158G>C (n.*158G>C) c.649G>C (p.Val217Leu) | |
| 17 | g.42787458G>T | CA399657215 | WNK4 | c.1657G>T (p.Val553Phe) n.337G>T c.*158G>T (n.*158G>T) c.649G>T (p.Val217Phe) | |
| 17 | g.42787459T>A | CA399657234 | WNK4 | c.1658T>A (p.Val553Asp) n.338T>A c.*159T>A (n.*159T>A) c.650T>A (p.Val217Asp) | |
| 17 | g.42787459T>C | CA399657226 | WNK4 | c.1658T>C (p.Val553Ala) n.338T>C c.*159T>C (n.*159T>C) c.650T>C (p.Val217Ala) | |
| 17 | g.42787459T>G | CA399657232 | WNK4 | c.1658T>G (p.Val553Gly) n.338T>G c.*159T>G (n.*159T>G) c.650T>G (p.Val217Gly) | |
| 17 | g.42787459_42787469del | CA2638017120 | WNK4 | c.1658_1668del (p.Val553GlyfsTer3) n.338_348del c.*159_*169del (n.*159_*169del) c.650_660del (p.Val217GlyfsTer3) | gnomAD v4 |
| 17 | g.42787460C>A | CA500225494 | WNK4 | c.1659C>A (p.Val553=) n.339C>A c.*160C>A (n.*160C>A) c.651C>A (p.Val217=) | |
| 17 | g.42787460C= | CA2260641904 | WNK4 | c.1659C= (p.Val553=) n.339C= c.*160C= (n.*160C=) c.651C= (p.Val217=) | |
| 17 | g.42787460C>G | CA500225495 | WNK4 | c.1659C>G (p.Val553=) n.339C>G c.*160C>G (n.*160C>G) c.651C>G (p.Val217=) | |
| 17 | g.42787460C>T | CA8584049 | WNK4 | c.1659C>T (p.Val553=) n.339C>T c.*160C>T (n.*160C>T) c.651C>T (p.Val217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.42787461T>A | CA290785123 | WNK4 | c.1660T>A (p.Phe554Ile) n.340T>A c.*161T>A (n.*161T>A) c.652T>A (p.Phe218Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42787461T>C | CA399657245 | WNK4 | c.1660T>C (p.Phe554Leu) n.340T>C c.*161T>C (n.*161T>C) c.652T>C (p.Phe218Leu) | |
| 17 | g.42787461T>G | CA399657249 | WNK4 | c.1660T>G (p.Phe554Val) n.340T>G c.*161T>G (n.*161T>G) c.652T>G (p.Phe218Val) | gnomAD v3 gnomAD v4 |
| 17 | g.42787461T= | CA2260641905 | WNK4 | c.1660T= (p.Phe554=) n.340T= c.*161T= (n.*161T=) c.652T= (p.Phe218=) | |
| 17 | g.42787462T>A | CA399657252 | WNK4 | c.1661T>A (p.Phe554Tyr) n.341T>A c.*162T>A (n.*162T>A) c.653T>A (p.Phe218Tyr) | gnomAD v4 |
| 17 | g.42787462T>C | CA399657255 | WNK4 | c.1661T>C (p.Phe554Ser) n.341T>C c.*162T>C (n.*162T>C) c.653T>C (p.Phe218Ser) | dbSNP gnomAD v4 |
| 17 | g.42787462T>G | CA399657267 | WNK4 | c.1661T>G (p.Phe554Cys) n.341T>G c.*162T>G (n.*162T>G) c.653T>G (p.Phe218Cys) | |
| 17 | g.42787462T= | CA2260641906 | WNK4 | c.1661T= (p.Phe554=) n.341T= c.*162T= (n.*162T=) c.653T= (p.Phe218=) | |
| 17 | g.42787463C>A | CA399657280 | WNK4 | c.1662C>A (p.Phe554Leu) n.342C>A c.*163C>A (n.*163C>A) c.654C>A (p.Phe218Leu) | |
| 17 | g.42787463C= | CA2260641907 | WNK4 | c.1662C= (p.Phe554=) n.342C= c.*163C= (n.*163C=) c.654C= (p.Phe218=) | |
| 17 | g.42787463C>G | CA399657284 | WNK4 | c.1662C>G (p.Phe554Leu) n.342C>G c.*163C>G (n.*163C>G) c.654C>G (p.Phe218Leu) | |
| 17 | g.42787463C>T | CA290785128 | WNK4 | c.1662C>T (p.Phe554=) n.342C>T c.*163C>T (n.*163C>T) c.654C>T (p.Phe218=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.42787468dup | CA626220175 | WNK4 | c.1667dup (p.Glu557Ter) n.347dup c.*168dup (n.*168dup) c.659dup (p.Glu221Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787468del | CA2576279500 | WNK4 | c.1667del (p.Pro556LeufsTer?) n.347del c.*168del (n.*168del) c.659del (p.Pro220LeufsTer?) | gnomAD v4 |
| 17 | g.42787464C>A | CA8584050 | WNK4 | c.1663C>A (p.Pro555Thr) n.343C>A c.*164C>A (n.*164C>A) c.655C>A (p.Pro219Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42787464C= | CA2260641908 | WNK4 | c.1663C= (p.Pro555=) n.343C= c.*164C= (n.*164C=) c.655C= (p.Pro219=) | |
| 17 | g.42787464C>G | CA399657296 | WNK4 | c.1663C>G (p.Pro555Ala) n.343C>G c.*164C>G (n.*164C>G) c.655C>G (p.Pro219Ala) | |
| 17 | g.42787464C>T | CA399657293 | WNK4 | c.1663C>T (p.Pro555Ser) n.343C>T c.*164C>T (n.*164C>T) c.655C>T (p.Pro219Ser) | gnomAD v4 |
| 17 | g.42787465C>A | CA8584052 | WNK4 | c.1664C>A (p.Pro555His) n.344C>A c.*165C>A (n.*165C>A) c.656C>A (p.Pro219His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42787465C= | CA2260641909 | WNK4 | c.1664C= (p.Pro555=) n.344C= c.*165C= (n.*165C=) c.656C= (p.Pro219=) | |
| 17 | g.42787465C>G | CA8584051 | WNK4 | c.1664C>G (p.Pro555Arg) n.344C>G c.*165C>G (n.*165C>G) c.656C>G (p.Pro219Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787465C>T | CA399657320 | WNK4 | c.1664C>T (p.Pro555Leu) n.344C>T c.*165C>T (n.*165C>T) c.656C>T (p.Pro219Leu) | |
| 17 | g.42787466C>A | CA500225498 | WNK4 | c.1665C>A (p.Pro555=) n.345C>A c.*166C>A (n.*166C>A) c.657C>A (p.Pro219=) | |
| 17 | g.42787466C>G | CA500225499 | WNK4 | c.1665C>G (p.Pro555=) n.345C>G c.*166C>G (n.*166C>G) c.657C>G (p.Pro219=) | |
| 17 | g.42787466C>T | CA500225500 | WNK4 | c.1665C>T (p.Pro555=) n.345C>T c.*166C>T (n.*166C>T) c.657C>T (p.Pro219=) | |
| 17 | g.42787467C>A | CA8584054 | WNK4 | c.1666C>A (p.Pro556Thr) n.346C>A c.*167C>A (n.*167C>A) c.658C>A (p.Pro220Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787467C= | CA2260641910 | WNK4 | c.1666C= (p.Pro556=) n.346C= c.*167C= (n.*167C=) c.658C= (p.Pro220=) | |
| 17 | g.42787467C>G | CA8584053 | WNK4 | c.1666C>G (p.Pro556Ala) n.346C>G c.*167C>G (n.*167C>G) c.658C>G (p.Pro220Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787467C>T | CA399657328 | WNK4 | c.1666C>T (p.Pro556Ser) n.346C>T c.*167C>T (n.*167C>T) c.658C>T (p.Pro220Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42787467_42787469delinsCCT | CA2260641911 | WNK4 | c.1666_1668delinsCCT (p.Pro556=) n.346_348delinsCCT c.*167_*169delinsCCT (n.*167_*169delinsCCT) c.658_660delinsCCT (p.Pro220=) | |
| 17 | g.42787468C>A | CA399657331 | WNK4 | c.1667C>A (p.Pro556His) n.347C>A c.*168C>A (n.*168C>A) c.659C>A (p.Pro220His) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42787468C= | CA2260641912 | WNK4 | c.1667C= (p.Pro556=) n.347C= c.*168C= (n.*168C=) c.659C= (p.Pro220=) | |
| 17 | g.42787468C>G | CA399657332 | WNK4 | c.1667C>G (p.Pro556Arg) n.347C>G c.*168C>G (n.*168C>G) c.659C>G (p.Pro220Arg) | |
| 17 | g.42787468C>T | CA399657333 | WNK4 | c.1667C>T (p.Pro556Leu) n.347C>T c.*168C>T (n.*168C>T) c.659C>T (p.Pro220Leu) | |
| 17 | g.42787468_42787469del | CA983848430 | WNK4 | c.1667_1668del (p.Pro556ArgfsTer3) n.347_348del c.*168_*169del (n.*168_*169del) c.659_660del (p.Pro220ArgfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42787468_42787469delinsCT | CA2260641913 | WNK4 | c.1667_1668delinsCT (p.Pro556=) n.347_348delinsCT c.*168_*169delinsCT (n.*168_*169delinsCT) c.659_660delinsCT (p.Pro220=) | |
| 17 | g.42787468_42787469insG | CA626220176 | WNK4 | c.1667_1668insG (p.Glu557Ter) n.347_348insG c.*168_*169insG (n.*168_*169insG) c.659_660insG (p.Glu221Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42787469del | CA8584055 | WNK4 | c.1668del (p.Glu557SerfsTer?) n.348del c.*169del (n.*169del) c.660del (p.Glu221SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787469T>A | CA500225502 | WNK4 | c.1668T>A (p.Pro556=) n.348T>A c.*169T>A (n.*169T>A) c.660T>A (p.Pro220=) | |
| 17 | g.42787469T>C | CA500225503 | WNK4 | c.1668T>C (p.Pro556=) n.348T>C c.*169T>C (n.*169T>C) c.660T>C (p.Pro220=) | gnomAD v4 |
| 17 | g.42787469T>G | CA500225504 | WNK4 | c.1668T>G (p.Pro556=) n.348T>G c.*169T>G (n.*169T>G) c.660T>G (p.Pro220=) | |
| 17 | g.42787469dup | CA626220177 | WNK4 | c.1668dup (p.Glu557Ter) n.348dup c.*169dup (n.*169dup) c.660dup (p.Glu221Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42787470G>A | CA399657335 | WNK4 | c.1669G>A (p.Glu557Lys) n.349G>A c.*170G>A (n.*170G>A) c.661G>A (p.Glu221Lys) | |
| 17 | g.42787470G>C | CA399657337 | WNK4 | c.1669G>C (p.Glu557Gln) n.349G>C c.*170G>C (n.*170G>C) c.661G>C (p.Glu221Gln) | |
| 17 | g.42787470G>T | CA399657338 | WNK4 | c.1669G>T (p.Glu557Ter) n.349G>T c.*170G>T (n.*170G>T) c.661G>T (p.Glu221Ter) | |
| 17 | g.42787471A>C | CA399657343 | WNK4 | c.1670A>C (p.Glu557Ala) n.350A>C c.*171A>C (n.*171A>C) c.662A>C (p.Glu221Ala) | |
| 17 | g.42787471A>G | CA399657349 | WNK4 | c.1670A>G (p.Glu557Gly) n.350A>G c.*171A>G (n.*171A>G) c.662A>G (p.Glu221Gly) | gnomAD v4 |
| 17 | g.42787471A>T | CA399657342 | WNK4 | c.1670A>T (p.Glu557Val) n.350A>T c.*171A>T (n.*171A>T) c.662A>T (p.Glu221Val) | |
| 17 | g.42787472G>A | CA500225506 | WNK4 | c.1671G>A (p.Glu557=) n.351G>A c.*172G>A (n.*172G>A) c.663G>A (p.Glu221=) | gnomAD v4 |
| 17 | g.42787472G>C | CA399657353 | WNK4 | c.1671G>C (p.Glu557Asp) n.351G>C c.*172G>C (n.*172G>C) c.663G>C (p.Glu221Asp) | |
| 17 | g.42787472G>T | CA399657356 | WNK4 | c.1671G>T (p.Glu557Asp) n.351G>T c.*172G>T (n.*172G>T) c.663G>T (p.Glu221Asp) | gnomAD v4 |
| 17 | g.42787473C>A | CA399657360 | WNK4 | c.1672C>A (p.Pro558Thr) n.352C>A c.*173C>A (n.*173C>A) c.664C>A (p.Pro222Thr) | dbSNP |
| 17 | g.42787473C= | CA2260641914 | WNK4 | c.1672C= (p.Pro558=) n.352C= c.*173C= (n.*173C=) c.664C= (p.Pro222=) | |
| 17 | g.42787473C>G | CA399657363 | WNK4 | c.1672C>G (p.Pro558Ala) n.352C>G c.*173C>G (n.*173C>G) c.664C>G (p.Pro222Ala) | |
| 17 | g.42787473C>T | CA8584056 | WNK4 | c.1672C>T (p.Pro558Ser) n.352C>T c.*173C>T (n.*173C>T) c.664C>T (p.Pro222Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787473_42787475del | CA2638017124 | WNK4 | c.1672_1674del (p.Pro558del) n.352_354del c.*173_*175del (n.*173_*175del) c.664_666del (p.Pro222del) | gnomAD v4 |
| 17 | g.42787474C>A | CA399657368 | WNK4 | c.1673C>A (p.Pro558His) n.353C>A c.*174C>A (n.*174C>A) c.665C>A (p.Pro222His) | |
| 17 | g.42787474C>G | CA399657371 | WNK4 | c.1673C>G (p.Pro558Arg) n.353C>G c.*174C>G (n.*174C>G) c.665C>G (p.Pro222Arg) | |
| 17 | g.42787474C>T | CA399657372 | WNK4 | c.1673C>T (p.Pro558Leu) n.353C>T c.*174C>T (n.*174C>T) c.665C>T (p.Pro222Leu) | gnomAD v4 |
| 17 | g.42787475T>A | CA500225508 | WNK4 | c.1674T>A (p.Pro558=) n.354T>A c.*175T>A (n.*175T>A) c.666T>A (p.Pro222=) | |
| 17 | g.42787475T>C | CA8584057 | WNK4 | c.1674T>C (p.Pro558=) n.354T>C c.*175T>C (n.*175T>C) c.666T>C (p.Pro222=) | dbSNP ExAC gnomAD v2 |
| 17 | g.42787475T>G | CA500225509 | WNK4 | c.1674T>G (p.Pro558=) n.354T>G c.*175T>G (n.*175T>G) c.666T>G (p.Pro222=) | |
| 17 | g.42787475T= | CA2260641915 | WNK4 | c.1674T= (p.Pro558=) n.354T= c.*175T= (n.*175T=) c.666T= (p.Pro222=) | |
| 17 | g.42787476G>A | CA399657376 | WNK4 | c.1675G>A (p.Glu559Lys) n.355G>A c.*176G>A (n.*176G>A) c.667G>A (p.Glu223Lys) | |
| 17 | g.42787476G>C | CA399657378 | WNK4 | c.1675G>C (p.Glu559Gln) n.355G>C c.*176G>C (n.*176G>C) c.667G>C (p.Glu223Gln) | |
| 17 | g.42787476G>T | CA399657381 | WNK4 | c.1675G>T (p.Glu559Ter) n.355G>T c.*176G>T (n.*176G>T) c.667G>T (p.Glu223Ter) | |
| 17 | g.42787479_42787481del | CA2695201330 | WNK4 | c.1678_1680del (p.Glu560del) n.358_360del c.*179_*181del (n.*179_*181del) c.670_672del (p.Glu224del) | ClinVar |
| 17 | g.42787477A>C | CA399657385 | WNK4 | c.1676A>C (p.Glu559Ala) n.356A>C c.*177A>C (n.*177A>C) c.668A>C (p.Glu223Ala) | |
| 17 | g.42787477A>G | CA399657387 | WNK4 | c.1676A>G (p.Glu559Gly) n.356A>G c.*177A>G (n.*177A>G) c.668A>G (p.Glu223Gly) | gnomAD v4 |
| 17 | g.42787477A>T | CA399657391 | WNK4 | c.1676A>T (p.Glu559Val) n.356A>T c.*177A>T (n.*177A>T) c.668A>T (p.Glu223Val) | |
| 17 | g.42787478G>A | CA500225513 | WNK4 | c.1677G>A (p.Glu559=) n.357G>A c.*178G>A (n.*178G>A) c.669G>A (p.Glu223=) | COSMIC COSMIC |
| 17 | g.42787478G>C | CA399657393 | WNK4 | c.1677G>C (p.Glu559Asp) n.357G>C c.*178G>C (n.*178G>C) c.669G>C (p.Glu223Asp) | |
| 17 | g.42787478G>T | CA399657395 | WNK4 | c.1677G>T (p.Glu559Asp) n.357G>T c.*178G>T (n.*178G>T) c.669G>T (p.Glu223Asp) | |
| 17 | g.42787479G>A | CA399657398 | WNK4 | c.1678G>A (p.Glu560Lys) n.358G>A c.*179G>A (n.*179G>A) c.670G>A (p.Glu224Lys) | |
| 17 | g.42787479G>C | CA399657399 | WNK4 | c.1678G>C (p.Glu560Gln) n.358G>C c.*179G>C (n.*179G>C) c.670G>C (p.Glu224Gln) | |
| 17 | g.42787479G>T | CA399657400 | WNK4 | c.1678G>T (p.Glu560Ter) n.358G>T c.*179G>T (n.*179G>T) c.670G>T (p.Glu224Ter) | |
| 17 | g.42787480A= | CA2260641916 | WNK4 | c.1679A= (p.Glu560=) n.359A= c.*180A= (n.*180A=) c.671A= (p.Glu224=) | |
| 17 | g.42787480A>C | CA399657401 | WNK4 | c.1679A>C (p.Glu560Ala) n.359A>C c.*180A>C (n.*180A>C) c.671A>C (p.Glu224Ala) | |
| 17 | g.42787480A>G | CA16044426 | WNK4 | c.1679A>G (p.Glu560Gly) n.359A>G c.*180A>G (n.*180A>G) c.671A>G (p.Glu224Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42787480A>T | CA399657403 | WNK4 | c.1679A>T (p.Glu560Val) n.359A>T c.*180A>T (n.*180A>T) c.671A>T (p.Glu224Val) | |
| 17 | g.42787481G>A | CA500225517 | WNK4 | c.1680G>A (p.Glu560=) n.360G>A c.*181G>A (n.*181G>A) c.672G>A (p.Glu224=) | |
| 17 | g.42787481G>C | CA399657406 | WNK4 | c.1680G>C (p.Glu560Asp) n.360G>C c.*181G>C (n.*181G>C) c.672G>C (p.Glu224Asp) | |
| 17 | g.42787481G>T | CA399657409 | WNK4 | c.1680G>T (p.Glu560Asp) n.360G>T c.*181G>T (n.*181G>T) c.672G>T (p.Glu224Asp) | |
| 17 | g.42787482C>A | CA399657412 | WNK4 | c.1681C>A (p.Pro561Thr) n.361C>A c.*182C>A (n.*182C>A) c.673C>A (p.Pro225Thr) | |
| 17 | g.42787482C= | CA2260641917 | WNK4 | c.1681C= (p.Pro561=) n.361C= c.*182C= (n.*182C=) c.673C= (p.Pro225=) | |
| 17 | g.42787482C>G | CA399657415 | WNK4 | c.1681C>G (p.Pro561Ala) n.361C>G c.*182C>G (n.*182C>G) c.673C>G (p.Pro225Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42787482C>T | CA399657417 | WNK4 | c.1681C>T (p.Pro561Ser) n.361C>T c.*182C>T (n.*182C>T) c.673C>T (p.Pro225Ser) | |
| 17 | g.42787482_42787484del | CA2638017126 | WNK4 | c.1681_1683del (p.Pro561del) n.361_363del c.*182_*184del (n.*182_*184del) c.673_675del (p.Pro225del) | gnomAD v4 |
| 17 | g.42787483C>A | CA399657422 | WNK4 | c.1682C>A (p.Pro561Gln) n.362C>A c.*183C>A (n.*183C>A) c.674C>A (p.Pro225Gln) | |
| 17 | g.42787483C= | CA2260641918 | WNK4 | c.1682C= (p.Pro561=) n.362C= c.*183C= (n.*183C=) c.674C= (p.Pro225=) | |
| 17 | g.42787483C>G | CA399657420 | WNK4 | c.1682C>G (p.Pro561Arg) n.362C>G c.*183C>G (n.*183C>G) c.674C>G (p.Pro225Arg) | |
| 17 | g.42787483C>T | CA16044427 | WNK4 | c.1682C>T (p.Pro561Leu) n.362C>T c.*183C>T (n.*183C>T) c.674C>T (p.Pro225Leu) | ClinVar dbSNP |
| 17 | g.42787484A>C | CA500225521 | WNK4 | c.1683A>C (p.Pro561=) n.363A>C c.*184A>C (n.*184A>C) c.675A>C (p.Pro225=) | |
| 17 | g.42787484A>G | CA500225519 | WNK4 | c.1683A>G (p.Pro561=) n.363A>G c.*184A>G (n.*184A>G) c.675A>G (p.Pro225=) | |
| 17 | g.42787484A>T | CA500225520 | WNK4 | c.1683A>T (p.Pro561=) n.363A>T c.*184A>T (n.*184A>T) c.675A>T (p.Pro225=) | |
| 17 | g.42787485G>A | CA254226 | WNK4 | c.1684G>A (p.Glu562Lys) n.364G>A c.*185G>A (n.*185G>A) c.676G>A (p.Glu226Lys) | ClinVar dbSNP |
| 17 | g.42787485G>C | CA399657427 | WNK4 | c.1684G>C (p.Glu562Gln) n.364G>C c.*185G>C (n.*185G>C) c.676G>C (p.Glu226Gln) | |
| 17 | g.42787485G= | CA2260641919 | WNK4 | c.1684G= (p.Glu562=) n.364G= c.*185G= (n.*185G=) c.676G= (p.Glu226=) | |
| 17 | g.42787485G>T | CA399657428 | WNK4 | c.1684G>T (p.Glu562Ter) n.364G>T c.*185G>T (n.*185G>T) c.676G>T (p.Glu226Ter) | |
| 17 | g.42787486A>C | CA399657431 | WNK4 | c.1685A>C (p.Glu562Ala) n.365A>C c.*186A>C (n.*186A>C) c.677A>C (p.Glu226Ala) | |
| 17 | g.42787486A>G | CA399657433 | WNK4 | c.1685A>G (p.Glu562Gly) n.365A>G c.*186A>G (n.*186A>G) c.677A>G (p.Glu226Gly) | gnomAD v4 |
| 17 | g.42787486A>T | CA399657434 | WNK4 | c.1685A>T (p.Glu562Val) n.365A>T c.*186A>T (n.*186A>T) c.677A>T (p.Glu226Val) | |
| 17 | g.42787487G>A | CA500225525 | WNK4 | c.1686G>A (p.Glu562=) n.366G>A c.*187G>A (n.*187G>A) c.678G>A (p.Glu226=) | gnomAD v4 COSMIC COSMIC |
| 17 | g.42787487G>C | CA399657441 | WNK4 | c.1686G>C (p.Glu562Asp) n.366G>C c.*187G>C (n.*187G>C) c.678G>C (p.Glu226Asp) | |
| 17 | g.42787487G>T | CA399657436 | WNK4 | c.1686G>T (p.Glu562Asp) n.366G>T c.*187G>T (n.*187G>T) c.678G>T (p.Glu226Asp) | |
| 17 | g.42787488G>A | CA399657446 | WNK4 | c.1687G>A (p.Ala563Thr) n.367G>A c.*188G>A (n.*188G>A) c.679G>A (p.Ala227Thr) | |
| 17 | g.42787488G>C | CA399657449 | WNK4 | c.1687G>C (p.Ala563Pro) n.367G>C c.*188G>C (n.*188G>C) c.679G>C (p.Ala227Pro) | |
| 17 | g.42787488G>T | CA399657452 | WNK4 | c.1687G>T (p.Ala563Ser) n.367G>T c.*188G>T (n.*188G>T) c.679G>T (p.Ala227Ser) | gnomAD v4 |
| 17 | g.42787489C>A | CA399657455 | WNK4 | c.1688C>A (p.Ala563Glu) n.368C>A c.*189C>A (n.*189C>A) c.680C>A (p.Ala227Glu) | gnomAD v4 |
| 17 | g.42787489C>G | CA399657458 | WNK4 | c.1688C>G (p.Ala563Gly) n.368C>G c.*189C>G (n.*189C>G) c.680C>G (p.Ala227Gly) | |
| 17 | g.42787489C>T | CA399657460 | WNK4 | c.1688C>T (p.Ala563Val) n.368C>T c.*189C>T (n.*189C>T) c.680C>T (p.Ala227Val) | |
| 17 | g.42787490A= | CA2260641920 | WNK4 | c.1689A= (p.Ala563=) n.369A= c.*190A= (n.*190A=) c.681A= (p.Ala227=) | |
| 17 | g.42787490A>C | CA500225527 | WNK4 | c.1689A>C (p.Ala563=) n.369A>C c.*190A>C (n.*190A>C) c.681A>C (p.Ala227=) | |
| 17 | g.42787490A>G | CA500225528 | WNK4 | c.1689A>G (p.Ala563=) n.369A>G c.*190A>G (n.*190A>G) c.681A>G (p.Ala227=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42787490A>T | CA500225529 | WNK4 | c.1689A>T (p.Ala563=) n.369A>T c.*190A>T (n.*190A>T) c.681A>T (p.Ala227=) | |
| 17 | g.42787491G>A | CA399657465 | WNK4 | c.1690G>A (p.Asp564Asn) n.370G>A c.*191G>A (n.*191G>A) c.682G>A (p.Asp228Asn) | |
| 17 | g.42787491G>C | CA16044428 | WNK4 | c.1690G>C (p.Asp564His) n.370G>C c.*191G>C (n.*191G>C) c.682G>C (p.Asp228His) | ClinVar dbSNP |
| 17 | g.42787491G= | CA2260641921 | WNK4 | c.1690G= (p.Asp564=) n.370G= c.*191G= (n.*191G=) c.682G= (p.Asp228=) | |
| 17 | g.42787491G>T | CA399657468 | WNK4 | c.1690G>T (p.Asp564Tyr) n.370G>T c.*191G>T (n.*191G>T) c.682G>T (p.Asp228Tyr) | |
| 17 | g.42787492A= | CA2260641922 | WNK4 | c.1691A= (p.Asp564=) n.371A= c.*192A= (n.*192A=) c.683A= (p.Asp228=) | |
| 17 | g.42787492A>C | CA254227 | WNK4 | c.1691A>C (p.Asp564Ala) n.371A>C c.*192A>C (n.*192A>C) c.683A>C (p.Asp228Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42787492A>G | CA399657475 | WNK4 | c.1691A>G (p.Asp564Gly) n.371A>G c.*192A>G (n.*192A>G) c.683A>G (p.Asp228Gly) | |
| 17 | g.42787492A>T | CA399657477 | WNK4 | c.1691A>T (p.Asp564Val) n.371A>T c.*192A>T (n.*192A>T) c.683A>T (p.Asp228Val) | |
| 17 | g.42787493C>A | CA399657482 | WNK4 | c.1692C>A (p.Asp564Glu) n.372C>A c.*193C>A (n.*193C>A) c.684C>A (p.Asp228Glu) | |
| 17 | g.42787493C>G | CA399657485 | WNK4 | c.1692C>G (p.Asp564Glu) n.372C>G c.*193C>G (n.*193C>G) c.684C>G (p.Asp228Glu) | |
| 17 | g.42787493C>T | CA500225532 | WNK4 | c.1692C>T (p.Asp564=) n.372C>T c.*193C>T (n.*193C>T) c.684C>T (p.Asp228=) | gnomAD v4 |
| 17 | g.42787494C>A | CA399657500 | WNK4 | c.1693C>A (p.Gln565Lys) n.373C>A c.*194C>A (n.*194C>A) c.685C>A (p.Gln229Lys) | |
| 17 | g.42787494C= | CA2260641923 | WNK4 | c.1693C= (p.Gln565=) n.373C= c.*194C= (n.*194C=) c.685C= (p.Gln229=) | |
| 17 | g.42787494C>G | CA254225 | WNK4 | c.1693C>G (p.Gln565Glu) n.373C>G c.*194C>G (n.*194C>G) c.685C>G (p.Gln229Glu) | ClinVar dbSNP |
| 17 | g.42787494C>T | CA399657505 | WNK4 | c.1693C>T (p.Gln565Ter) n.373C>T c.*194C>T (n.*194C>T) c.685C>T (p.Gln229Ter) | |
| 17 | g.42787495A= | CA2260641924 | WNK4 | c.1694A= (p.Gln565=) n.374A= c.*195A= (n.*195A=) c.686A= (p.Gln229=) | |
| 17 | g.42787495A>C | CA399657508 | WNK4 | c.1694A>C (p.Gln565Pro) n.374A>C c.*195A>C (n.*195A>C) c.686A>C (p.Gln229Pro) | ClinVar |
| 17 | g.42787495A>G | CA399657510 | WNK4 | c.1694A>G (p.Gln565Arg) n.374A>G c.*195A>G (n.*195A>G) c.686A>G (p.Gln229Arg) | |
| 17 | g.42787495A>T | CA399657512 | WNK4 | c.1694A>T (p.Gln565Leu) n.374A>T c.*195A>T (n.*195A>T) c.686A>T (p.Gln229Leu) | dbSNP |
| 17 | g.42787496G>A | CA500225534 | WNK4 | c.1695G>A (p.Gln565=) n.375G>A c.*196G>A (n.*196G>A) c.687G>A (p.Gln229=) | |
| 17 | g.42787496G>C | CA399657517 | WNK4 | c.1695G>C (p.Gln565His) n.375G>C c.*196G>C (n.*196G>C) c.687G>C (p.Gln229His) | |
| 17 | g.42787496G>T | CA399657515 | WNK4 | c.1695G>T (p.Gln565His) n.375G>T c.*196G>T (n.*196G>T) c.687G>T (p.Gln229His) |