Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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) | |
17 | g.42787497C>A | CA399657521 | WNK4 | c.1696C>A (p.His566Asn) n.376C>A c.*197C>A (n.*197C>A) c.688C>A (p.His230Asn) | |
17 | g.42787497C>G | CA399657529 | WNK4 | c.1696C>G (p.His566Asp) n.376C>G c.*197C>G (n.*197C>G) c.688C>G (p.His230Asp) | |
17 | g.42787497C>T | CA399657525 | WNK4 | c.1696C>T (p.His566Tyr) n.376C>T c.*197C>T (n.*197C>T) c.688C>T (p.His230Tyr) | |
17 | g.42787498A= | CA2260641925 | WNK4 | c.1697A= (p.His566=) n.377A= c.*198A= (n.*198A=) c.689A= (p.His230=) | |
17 | g.42787498A>C | CA399657534 | WNK4 | c.1697A>C (p.His566Pro) n.377A>C c.*198A>C (n.*198A>C) c.689A>C (p.His230Pro) | dbSNP |
17 | g.42787498A>G | CA399657539 | WNK4 | c.1697A>G (p.His566Arg) n.377A>G c.*198A>G (n.*198A>G) c.689A>G (p.His230Arg) | |
17 | g.42787498A>T | CA399657536 | WNK4 | c.1697A>T (p.His566Leu) n.377A>T c.*198A>T (n.*198A>T) c.689A>T (p.His230Leu) | |
17 | g.42787499C>A | CA399657544 | WNK4 | c.1698C>A (p.His566Gln) n.378C>A c.*199C>A (n.*199C>A) c.690C>A (p.His230Gln) | |
17 | g.42787499C= | CA2260641926 | WNK4 | c.1698C= (p.His566=) n.378C= c.*199C= (n.*199C=) c.690C= (p.His230=) | |
17 | g.42787499C>G | CA399657546 | WNK4 | c.1698C>G (p.His566Gln) n.378C>G c.*199C>G (n.*199C>G) c.690C>G (p.His230Gln) | |
17 | g.42787499C>T | CA500225538 | WNK4 | c.1698C>T (p.His566=) n.378C>T c.*199C>T (n.*199C>T) c.690C>T (p.His230=) | dbSNP |
17 | g.42787500C>A | CA399657550 | WNK4 | c.1699C>A (p.Gln567Lys) n.379C>A c.*200C>A (n.*200C>A) c.691C>A (p.Gln231Lys) | |
17 | g.42787500C= | CA2260641927 | WNK4 | c.1699C= (p.Gln567=) n.379C= c.*200C= (n.*200C=) c.691C= (p.Gln231=) | |
17 | g.42787500C>G | CA399657553 | WNK4 | c.1699C>G (p.Gln567Glu) n.379C>G c.*200C>G (n.*200C>G) c.691C>G (p.Gln231Glu) | dbSNP |
17 | g.42787500C>T | CA399657555 | WNK4 | c.1699C>T (p.Gln567Ter) n.379C>T c.*200C>T (n.*200C>T) c.691C>T (p.Gln231Ter) | |
17 | g.42787501A= | CA2260641928 | WNK4 | c.1700A= (p.Gln567=) n.380A= c.*201A= (n.*201A=) c.692A= (p.Gln231=) | |
17 | g.42787501A>C | CA399657559 | WNK4 | c.1700A>C (p.Gln567Pro) n.380A>C c.*201A>C (n.*201A>C) c.692A>C (p.Gln231Pro) | |
17 | g.42787501A>G | CA290785160 | WNK4 | c.1700A>G (p.Gln567Arg) n.380A>G c.*201A>G (n.*201A>G) c.692A>G (p.Gln231Arg) | ClinVar dbSNP |
17 | g.42787501A>T | CA399657561 | WNK4 | c.1700A>T (p.Gln567Leu) n.380A>T c.*201A>T (n.*201A>T) c.692A>T (p.Gln231Leu) | |
17 | g.42787502G>A | CA500225539 | WNK4 | c.1701G>A (p.Gln567=) n.381G>A c.*202G>A (n.*202G>A) c.693G>A (p.Gln231=) | |
17 | g.42787502G>C | CA399657562 | WNK4 | c.1701G>C (p.Gln567His) n.381G>C c.*202G>C (n.*202G>C) c.693G>C (p.Gln231His) | |
17 | g.42787502G>T | CA399657563 | WNK4 | c.1701G>T (p.Gln567His) n.381G>T c.*202G>T (n.*202G>T) c.693G>T (p.Gln231His) | |
17 | g.42787503C>A | CA399657565 | WNK4 | c.1702C>A (p.Pro568Thr) n.382C>A c.*203C>A (n.*203C>A) c.694C>A (p.Pro232Thr) | |
17 | g.42787503C>G | CA399657567 | WNK4 | c.1702C>G (p.Pro568Ala) n.382C>G c.*203C>G (n.*203C>G) c.694C>G (p.Pro232Ala) | |
17 | g.42787503C>T | CA399657571 | WNK4 | c.1702C>T (p.Pro568Ser) n.382C>T c.*203C>T (n.*203C>T) c.694C>T (p.Pro232Ser) | |
17 | g.42787504C>A | CA399657580 | WNK4 | c.1703C>A (p.Pro568His) n.383C>A c.*204C>A (n.*204C>A) c.695C>A (p.Pro232His) | |
17 | g.42787504C>G | CA399657574 | WNK4 | c.1703C>G (p.Pro568Arg) n.383C>G c.*204C>G (n.*204C>G) c.695C>G (p.Pro232Arg) | |
17 | g.42787504C>T | CA399657577 | WNK4 | c.1703C>T (p.Pro568Leu) n.383C>T c.*204C>T (n.*204C>T) c.695C>T (p.Pro232Leu) | gnomAD v4 |
17 | g.42787505C>A | CA500225541 | WNK4 | c.1704C>A (p.Pro568=) n.384C>A c.*205C>A (n.*205C>A) c.696C>A (p.Pro232=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42787505C= | CA2260641929 | WNK4 | c.1704C= (p.Pro568=) n.384C= c.*205C= (n.*205C=) c.696C= (p.Pro232=) | |
17 | g.42787505C>G | CA500225543 | WNK4 | c.1704C>G (p.Pro568=) n.384C>G c.*205C>G (n.*205C>G) c.696C>G (p.Pro232=) | |
17 | g.42787505C>T | CA500225542 | WNK4 | c.1704C>T (p.Pro568=) n.384C>T c.*205C>T (n.*205C>T) c.696C>T (p.Pro232=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787505_42787506delinsCT | CA2260641930 | WNK4 | c.1704_1705delinsCT (p.Pro568=) n.384_385delinsCT c.*205_*206delinsCT (n.*205_*206delinsCT) c.696_697delinsCT (p.Pro232=) | |
17 | g.42787506T>A | CA290785161 | WNK4 | c.1705T>A (p.Phe569Ile) n.385T>A c.*206T>A (n.*206T>A) c.697T>A (p.Phe233Ile) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42787506T>C | CA399657585 | WNK4 | c.1705T>C (p.Phe569Leu) n.385T>C c.*206T>C (n.*206T>C) c.697T>C (p.Phe233Leu) | |
17 | g.42787506T>G | CA399657590 | WNK4 | c.1705T>G (p.Phe569Val) n.385T>G c.*206T>G (n.*206T>G) c.697T>G (p.Phe233Val) | |
17 | g.42787506T= | CA2260641931 | WNK4 | c.1705T= (p.Phe569=) n.385T= c.*206T= (n.*206T=) c.697T= (p.Phe233=) | |
17 | g.42787507del | CA626220178 | WNK4 | c.1706del (p.Phe569SerfsTer?) n.386del c.*207del (n.*207del) c.698del (p.Phe233SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787507T>A | CA399657593 | WNK4 | c.1706T>A (p.Phe569Tyr) n.386T>A c.*207T>A (n.*207T>A) c.698T>A (p.Phe233Tyr) | |
17 | g.42787507T>C | CA399657594 | WNK4 | c.1706T>C (p.Phe569Ser) n.386T>C c.*207T>C (n.*207T>C) c.698T>C (p.Phe233Ser) | |
17 | g.42787507T>G | CA399657595 | WNK4 | c.1706T>G (p.Phe569Cys) n.386T>G c.*207T>G (n.*207T>G) c.698T>G (p.Phe233Cys) | |
17 | g.42787508C>A | CA399657599 | WNK4 | c.1707C>A (p.Phe569Leu) n.387C>A c.*208C>A (n.*208C>A) c.699C>A (p.Phe233Leu) | |
17 | g.42787508C>G | CA399657601 | WNK4 | c.1707C>G (p.Phe569Leu) n.387C>G c.*208C>G (n.*208C>G) c.699C>G (p.Phe233Leu) | |
17 | g.42787508C>T | CA500225544 | WNK4 | c.1707C>T (p.Phe569=) n.387C>T c.*208C>T (n.*208C>T) c.699C>T (p.Phe233=) | |
17 | g.42787509C>A | CA399657604 | WNK4 | c.1708C>A (p.Leu570Ile) n.388C>A c.*209C>A (n.*209C>A) c.700C>A (p.Leu234Ile) | |
17 | g.42787509C>G | CA399657606 | WNK4 | c.1708C>G (p.Leu570Val) n.388C>G c.*209C>G (n.*209C>G) c.700C>G (p.Leu234Val) | |
17 | g.42787509C>T | CA399657609 | WNK4 | c.1708C>T (p.Leu570Phe) n.388C>T c.*209C>T (n.*209C>T) c.700C>T (p.Leu234Phe) | COSMIC COSMIC |
17 | g.42787509_42787510delinsCT | CA2260641932 | WNK4 | c.1708_1709delinsCT (p.Leu570=) n.388_389delinsCT c.*209_*210delinsCT (n.*209_*210delinsCT) c.700_701delinsCT (p.Leu234=) | |
17 | g.42787510T>A | CA399657618 | WNK4 | c.1709T>A (p.Leu570His) n.389T>A c.*210T>A (n.*210T>A) c.701T>A (p.Leu234His) | gnomAD v4 |
17 | g.42787510T>C | CA399657621 | WNK4 | c.1709T>C (p.Leu570Pro) n.389T>C c.*210T>C (n.*210T>C) c.701T>C (p.Leu234Pro) | gnomAD v4 |
17 | g.42787510T>G | CA399657615 | WNK4 | c.1709T>G (p.Leu570Arg) n.389T>G c.*210T>G (n.*210T>G) c.701T>G (p.Leu234Arg) | |
17 | g.42787513del | CA626220179 | WNK4 | c.1712del (p.Phe571SerfsTer?) n.392del c.*213del (n.*213del) c.704del (p.Phe235SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787511T>A | CA500225548 | WNK4 | c.1710T>A (p.Leu570=) n.390T>A c.*211T>A (n.*211T>A) c.702T>A (p.Leu234=) | |
17 | g.42787511T>C | CA500225549 | WNK4 | c.1710T>C (p.Leu570=) n.390T>C c.*211T>C (n.*211T>C) c.702T>C (p.Leu234=) | COSMIC COSMIC |
17 | g.42787511T>G | CA500225550 | WNK4 | c.1710T>G (p.Leu570=) n.390T>G c.*211T>G (n.*211T>G) c.702T>G (p.Leu234=) | |
17 | g.42787512T>A | CA399657625 | WNK4 | c.1711T>A (p.Phe571Ile) n.391T>A c.*212T>A (n.*212T>A) c.703T>A (p.Phe235Ile) | |
17 | g.42787512T>C | CA399657629 | WNK4 | c.1711T>C (p.Phe571Leu) n.391T>C c.*212T>C (n.*212T>C) c.703T>C (p.Phe235Leu) | |
17 | g.42787512T>G | CA399657633 | WNK4 | c.1711T>G (p.Phe571Val) n.391T>G c.*212T>G (n.*212T>G) c.703T>G (p.Phe235Val) | |
17 | g.42787513T>A | CA399657638 | WNK4 | c.1712T>A (p.Phe571Tyr) n.392T>A c.*213T>A (n.*213T>A) c.704T>A (p.Phe235Tyr) | |
17 | g.42787513T>C | CA399657643 | WNK4 | c.1712T>C (p.Phe571Ser) n.392T>C c.*213T>C (n.*213T>C) c.704T>C (p.Phe235Ser) | |
17 | g.42787513T>G | CA399657646 | WNK4 | c.1712T>G (p.Phe571Cys) n.392T>G c.*213T>G (n.*213T>G) c.704T>G (p.Phe235Cys) | |
17 | g.42787514C>A | CA399657650 | WNK4 | c.1713C>A (p.Phe571Leu) n.393C>A c.*214C>A (n.*214C>A) c.705C>A (p.Phe235Leu) | |
17 | g.42787514C= | CA2260641933 | WNK4 | c.1713C= (p.Phe571=) n.393C= c.*214C= (n.*214C=) c.705C= (p.Phe235=) | |
17 | g.42787514C>G | CA399657653 | WNK4 | c.1713C>G (p.Phe571Leu) n.393C>G c.*214C>G (n.*214C>G) c.705C>G (p.Phe235Leu) | |
17 | g.42787514C>T | CA8584058 | WNK4 | c.1713C>T (p.Phe571=) n.393C>T c.*214C>T (n.*214C>T) c.705C>T (p.Phe235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787515C>A | CA399657660 | WNK4 | c.1714C>A (p.Arg572Ser) n.394C>A c.*215C>A (n.*215C>A) c.706C>A (p.Arg236Ser) | COSMIC COSMIC |
17 | g.42787515C= | CA2260641934 | WNK4 | c.1714C= (p.Arg572=) n.394C= c.*215C= (n.*215C=) c.706C= (p.Arg236=) | |
17 | g.42787515C>G | CA399657663 | WNK4 | c.1714C>G (p.Arg572Gly) n.394C>G c.*215C>G (n.*215C>G) c.706C>G (p.Arg236Gly) | |
17 | g.42787515C>T | CA8584059 | WNK4 | c.1714C>T (p.Arg572Cys) n.394C>T c.*215C>T (n.*215C>T) c.706C>T (p.Arg236Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.42787516G>A | CA290785168 | WNK4 | c.1715G>A (p.Arg572His) n.395G>A c.*216G>A (n.*216G>A) c.707G>A (p.Arg236His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787516G>C | CA399657683 | WNK4 | c.1715G>C (p.Arg572Pro) n.395G>C c.*216G>C (n.*216G>C) c.707G>C (p.Arg236Pro) | |
17 | g.42787516G= | CA2260641936 | WNK4 | c.1715G= (p.Arg572=) n.395G= c.*216G= (n.*216G=) c.707G= (p.Arg236=) | |
17 | g.42787516G>T | CA399657677 | WNK4 | c.1715G>T (p.Arg572Leu) n.395G>T c.*216G>T (n.*216G>T) c.707G>T (p.Arg236Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42787516_42787517delinsGC | CA2260641935 | WNK4 | c.1715_1716delinsGC (p.Arg572=) n.395_396delinsGC c.*216_*217delinsGC (n.*216_*217delinsGC) c.707_708delinsGC (p.Arg236=) | |
17 | g.42787517C>A | CA500225551 | WNK4 | c.1716C>A (p.Arg572=) n.396C>A c.*217C>A (n.*217C>A) c.708C>A (p.Arg236=) | |
17 | g.42787517C= | CA2260641938 | WNK4 | c.1716C= (p.Arg572=) n.396C= c.*217C= (n.*217C=) c.708C= (p.Arg236=) | |
17 | g.42787517C>G | CA500225552 | WNK4 | c.1716C>G (p.Arg572=) n.396C>G c.*217C>G (n.*217C>G) c.708C>G (p.Arg236=) | |
17 | g.42787517C>T | CA8584060 | WNK4 | c.1716C>T (p.Arg572=) n.396C>T c.*217C>T (n.*217C>T) c.708C>T (p.Arg236=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787518del | CA2260641937 | WNK4 | c.1717del (p.His573ThrfsTer?) n.397del c.*218del (n.*218del) c.709del (p.His237ThrfsTer?) | dbSNP |
17 | g.42787518C>A | CA399657691 | WNK4 | c.1717C>A (p.His573Asn) n.397C>A c.*218C>A (n.*218C>A) c.709C>A (p.His237Asn) | |
17 | g.42787518C= | CA2260641939 | WNK4 | c.1717C= (p.His573=) n.397C= c.*218C= (n.*218C=) c.709C= (p.His237=) | |
17 | g.42787518C>G | CA399657696 | WNK4 | c.1717C>G (p.His573Asp) n.397C>G c.*218C>G (n.*218C>G) c.709C>G (p.His237Asp) | |
17 | g.42787518C>T | CA399657699 | WNK4 | c.1717C>T (p.His573Tyr) n.397C>T c.*218C>T (n.*218C>T) c.709C>T (p.His237Tyr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42787519A>C | CA399657730 | WNK4 | c.1718A>C (p.His573Pro) n.398A>C c.*219A>C (n.*219A>C) c.710A>C (p.His237Pro) | |
17 | g.42787519A>G | CA399657727 | WNK4 | c.1718A>G (p.His573Arg) n.398A>G c.*219A>G (n.*219A>G) c.710A>G (p.His237Arg) | |
17 | g.42787519A>T | CA399657717 | WNK4 | c.1718A>T (p.His573Leu) n.398A>T c.*219A>T (n.*219A>T) c.710A>T (p.His237Leu) | |
17 | g.42787520C>A | CA399657737 | WNK4 | c.1719C>A (p.His573Gln) n.399C>A c.*220C>A (n.*220C>A) c.711C>A (p.His237Gln) | |
17 | g.42787520C= | CA2260641940 | WNK4 | c.1719C= (p.His573=) n.399C= c.*220C= (n.*220C=) c.711C= (p.His237=) | |
17 | g.42787520C>G | CA399657741 | WNK4 | c.1719C>G (p.His573Gln) n.399C>G c.*220C>G (n.*220C>G) c.711C>G (p.His237Gln) | |
17 | g.42787520C>T | CA8584061 | WNK4 | c.1719C>T (p.His573=) n.399C>T c.*220C>T (n.*220C>T) c.711C>T (p.His237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787521G>A | CA8584063 | WNK4 | c.1720G>A (p.Ala574Thr) n.400G>A c.*221G>A (n.*221G>A) c.712G>A (p.Ala238Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42787521G>C | CA399657752 | WNK4 | c.1720G>C (p.Ala574Pro) n.400G>C c.*221G>C (n.*221G>C) c.712G>C (p.Ala238Pro) | |
17 | g.42787521G= | CA2260641941 | WNK4 | c.1720G= (p.Ala574=) n.400G= c.*221G= (n.*221G=) c.712G= (p.Ala238=) | |
17 | g.42787521G>T | CA8584062 | WNK4 | c.1720G>T (p.Ala574Ser) n.400G>T c.*221G>T (n.*221G>T) c.712G>T (p.Ala238Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787522C>A | CA399657764 | WNK4 | c.1721C>A (p.Ala574Asp) n.401C>A c.*222C>A (n.*222C>A) c.713C>A (p.Ala238Asp) | |
17 | g.42787522C>G | CA399657759 | WNK4 | c.1721C>G (p.Ala574Gly) n.401C>G c.*222C>G (n.*222C>G) c.713C>G (p.Ala238Gly) | COSMIC COSMIC |
17 | g.42787522C>T | CA399657758 | WNK4 | c.1721C>T (p.Ala574Val) n.401C>T c.*222C>T (n.*222C>T) c.713C>T (p.Ala238Val) | |
17 | g.42787523C>A | CA500225559 | WNK4 | c.1722C>A (p.Ala574=) n.402C>A c.*223C>A (n.*223C>A) c.714C>A (p.Ala238=) | |
17 | g.42787523C>G | CA500225560 | WNK4 | c.1722C>G (p.Ala574=) n.402C>G c.*223C>G (n.*223C>G) c.714C>G (p.Ala238=) | |
17 | g.42787523C>T | CA500225561 | WNK4 | c.1722C>T (p.Ala574=) n.402C>T c.*223C>T (n.*223C>T) c.714C>T (p.Ala238=) | |
17 | g.42787524A>C | CA399657769 | WNK4 | c.1723A>C (p.Ser575Arg) n.403A>C c.*224A>C (n.*224A>C) c.715A>C (p.Ser239Arg) | |
17 | g.42787524A>G | CA399657775 | WNK4 | c.1723A>G (p.Ser575Gly) n.403A>G c.*224A>G (n.*224A>G) c.715A>G (p.Ser239Gly) | |
17 | g.42787524A>T | CA399657771 | WNK4 | c.1723A>T (p.Ser575Cys) n.403A>T c.*224A>T (n.*224A>T) c.715A>T (p.Ser239Cys) | |
17 | g.42787525G>A | CA399657779 | WNK4 | c.1724G>A (p.Ser575Asn) n.404G>A c.*225G>A (n.*225G>A) c.716G>A (p.Ser239Asn) | |
17 | g.42787525G>C | CA399657784 | WNK4 | c.1724G>C (p.Ser575Thr) n.404G>C c.*225G>C (n.*225G>C) c.716G>C (p.Ser239Thr) | gnomAD v4 |
17 | g.42787525G>T | CA399657787 | WNK4 | c.1724G>T (p.Ser575Ile) n.404G>T c.*225G>T (n.*225G>T) c.716G>T (p.Ser239Ile) | |
17 | g.42787526C>A | CA399657790 | WNK4 | c.1725C>A (p.Ser575Arg) n.405C>A c.*226C>A (n.*226C>A) c.717C>A (p.Ser239Arg) | |
17 | g.42787526C>G | CA399657792 | WNK4 | c.1725C>G (p.Ser575Arg) n.405C>G c.*226C>G (n.*226C>G) c.717C>G (p.Ser239Arg) | |
17 | g.42787526C>T | CA500225564 | WNK4 | c.1725C>T (p.Ser575=) n.405C>T c.*226C>T (n.*226C>T) c.717C>T (p.Ser239=) | gnomAD v4 |
17 | g.42787527T>A | CA399657797 | WNK4 | c.1726T>A (p.Tyr576Asn) n.406T>A c.*227T>A (n.*227T>A) c.718T>A (p.Tyr240Asn) | |
17 | g.42787527T>C | CA399657799 | WNK4 | c.1726T>C (p.Tyr576His) n.406T>C c.*227T>C (n.*227T>C) c.718T>C (p.Tyr240His) | |
17 | g.42787527T>G | CA399657802 | WNK4 | c.1726T>G (p.Tyr576Asp) n.406T>G c.*227T>G (n.*227T>G) c.718T>G (p.Tyr240Asp) | |
17 | g.42787528A>C | CA399657809 | WNK4 | c.1727A>C (p.Tyr576Ser) n.407A>C c.*228A>C (n.*228A>C) c.719A>C (p.Tyr240Ser) | |
17 | g.42787528A>G | CA399657811 | WNK4 | c.1727A>G (p.Tyr576Cys) n.407A>G c.*228A>G (n.*228A>G) c.719A>G (p.Tyr240Cys) | |
17 | g.42787528A>T | CA399657816 | WNK4 | c.1727A>T (p.Tyr576Phe) n.407A>T c.*228A>T (n.*228A>T) c.719A>T (p.Tyr240Phe) | |
17 | g.42787529C>A | CA399657825 | WNK4 | c.1728C>A (p.Tyr576Ter) n.408C>A c.*229C>A (n.*229C>A) c.720C>A (p.Tyr240Ter) | |
17 | g.42787529C= | CA2260641942 | WNK4 | c.1728C= (p.Tyr576=) n.408C= c.*229C= (n.*229C=) c.720C= (p.Tyr240=) | |
17 | g.42787529C>G | CA399657821 | WNK4 | c.1728C>G (p.Tyr576Ter) n.408C>G c.*229C>G (n.*229C>G) c.720C>G (p.Tyr240Ter) | |
17 | g.42787529C>T | CA500225566 | WNK4 | c.1728C>T (p.Tyr576=) n.408C>T c.*229C>T (n.*229C>T) c.720C>T (p.Tyr240=) | dbSNP gnomAD v2 |
17 | g.42787530T>A | CA399657828 | WNK4 | c.1729T>A (p.Ser577Thr) n.409T>A c.*230T>A (n.*230T>A) c.721T>A (p.Ser241Thr) | |
17 | g.42787530T>C | CA399657829 | WNK4 | c.1729T>C (p.Ser577Pro) n.409T>C c.*230T>C (n.*230T>C) c.721T>C (p.Ser241Pro) | |
17 | g.42787530T>G | CA399657830 | WNK4 | c.1729T>G (p.Ser577Ala) n.409T>G c.*230T>G (n.*230T>G) c.721T>G (p.Ser241Ala) | |
17 | g.42787531C>A | CA399657831 | WNK4 | c.1730C>A (p.Ser577Ter) n.410C>A c.*231C>A (n.*231C>A) c.722C>A (p.Ser241Ter) | |
17 | g.42787531C= | CA2260641943 | WNK4 | c.1730C= (p.Ser577=) n.410C= c.*231C= (n.*231C=) c.722C= (p.Ser241=) | |
17 | g.42787531C>G | CA399657832 | WNK4 | c.1730C>G (p.Ser577Ter) n.410C>G c.*231C>G (n.*231C>G) c.722C>G (p.Ser241Ter) | |
17 | g.42787531C>T | CA8584064 | WNK4 | c.1730C>T (p.Ser577Leu) n.410C>T c.*231C>T (n.*231C>T) c.722C>T (p.Ser241Leu) | dbSNP ExAC gnomAD v2 |
17 | g.42787532A>C | CA500225570 | WNK4 | c.1731A>C (p.Ser577=) n.411A>C c.*232A>C (n.*232A>C) c.723A>C (p.Ser241=) | |
17 | g.42787532A>G | CA500225567 | WNK4 | c.1731A>G (p.Ser577=) n.411A>G c.*232A>G (n.*232A>G) c.723A>G (p.Ser241=) | |
17 | g.42787532A>T | CA500225568 | WNK4 | c.1731A>T (p.Ser577=) n.411A>T c.*232A>T (n.*232A>T) c.723A>T (p.Ser241=) | |
17 | g.42787533T>A | CA399657834 | WNK4 | c.1732T>A (p.Ser578Thr) n.412T>A c.*233T>A (n.*233T>A) c.724T>A (p.Ser242Thr) | |
17 | g.42787533T>C | CA399657836 | WNK4 | c.1732T>C (p.Ser578Pro) n.412T>C c.*233T>C (n.*233T>C) c.724T>C (p.Ser242Pro) | |
17 | g.42787533T>G | CA399657838 | WNK4 | c.1732T>G (p.Ser578Ala) n.412T>G c.*233T>G (n.*233T>G) c.724T>G (p.Ser242Ala) | dbSNP gnomAD v4 |
17 | g.42787533T= | CA2260641944 | WNK4 | c.1732T= (p.Ser578=) n.412T= c.*233T= (n.*233T=) c.724T= (p.Ser242=) | |
17 | g.42787534C>A | CA399657841 | WNK4 | c.1733C>A (p.Ser578Tyr) n.413C>A c.*234C>A (n.*234C>A) c.725C>A (p.Ser242Tyr) | |
17 | g.42787534C>G | CA399657844 | WNK4 | c.1733C>G (p.Ser578Cys) n.413C>G c.*234C>G (n.*234C>G) c.725C>G (p.Ser242Cys) | |
17 | g.42787534C>T | CA399657848 | WNK4 | c.1733C>T (p.Ser578Phe) n.413C>T c.*234C>T (n.*234C>T) c.725C>T (p.Ser242Phe) | |
17 | g.42787535T>A | CA500225571 | WNK4 | c.1734T>A (p.Ser578=) n.414T>A c.*235T>A (n.*235T>A) c.726T>A (p.Ser242=) | |
17 | g.42787535T>C | CA500225572 | WNK4 | c.1734T>C (p.Ser578=) n.414T>C c.*235T>C (n.*235T>C) c.726T>C (p.Ser242=) | |
17 | g.42787535T>G | CA500225573 | WNK4 | c.1734T>G (p.Ser578=) n.414T>G c.*235T>G (n.*235T>G) c.726T>G (p.Ser242=) | |
17 | g.42787536A>C | CA399657856 | WNK4 | c.1735A>C (p.Thr579Pro) n.415A>C c.*236A>C (n.*236A>C) c.727A>C (p.Thr243Pro) | |
17 | g.42787536A>G | CA399657859 | WNK4 | c.1735A>G (p.Thr579Ala) n.415A>G c.*236A>G (n.*236A>G) c.727A>G (p.Thr243Ala) | |
17 | g.42787536A>T | CA399657853 | WNK4 | c.1735A>T (p.Thr579Ser) n.415A>T c.*236A>T (n.*236A>T) c.727A>T (p.Thr243Ser) | |
17 | g.42787537C>A | CA399657862 | WNK4 | c.1736C>A (p.Thr579Asn) n.416C>A c.*237C>A (n.*237C>A) c.728C>A (p.Thr243Asn) | gnomAD v4 |
17 | g.42787537C= | CA2260641945 | WNK4 | c.1736C= (p.Thr579=) n.416C= c.*237C= (n.*237C=) c.728C= (p.Thr243=) | |
17 | g.42787537C>G | CA399657863 | WNK4 | c.1736C>G (p.Thr579Ser) n.416C>G c.*237C>G (n.*237C>G) c.728C>G (p.Thr243Ser) | |
17 | g.42787537C>T | CA399657866 | WNK4 | c.1736C>T (p.Thr579Ile) n.416C>T c.*237C>T (n.*237C>T) c.728C>T (p.Thr243Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42787538C>A | CA500225576 | WNK4 | c.1737C>A (p.Thr579=) n.417C>A c.*238C>A (n.*238C>A) c.729C>A (p.Thr243=) | |
17 | g.42787538C>G | CA500225577 | WNK4 | c.1737C>G (p.Thr579=) n.417C>G c.*238C>G (n.*238C>G) c.729C>G (p.Thr243=) | |
17 | g.42787538C>T | CA500225578 | WNK4 | c.1737C>T (p.Thr579=) n.417C>T c.*238C>T (n.*238C>T) c.729C>T (p.Thr243=) | gnomAD v4 |
17 | g.42787539A>C | CA399657869 | WNK4 | c.1738A>C (p.Thr580Pro) n.418A>C c.*239A>C (n.*239A>C) c.730A>C (p.Thr244Pro) | |
17 | g.42787539A>G | CA399657872 | WNK4 | c.1738A>G (p.Thr580Ala) n.418A>G c.*239A>G (n.*239A>G) c.730A>G (p.Thr244Ala) | |
17 | g.42787539A>T | CA399657875 | WNK4 | c.1738A>T (p.Thr580Ser) n.418A>T c.*239A>T (n.*239A>T) c.730A>T (p.Thr244Ser) | |
17 | g.42787540C>A | CA399657891 | WNK4 | c.1739C>A (p.Thr580Asn) n.419C>A c.*240C>A (n.*240C>A) c.731C>A (p.Thr244Asn) | |
17 | g.42787540C>G | CA399657892 | WNK4 | c.1739C>G (p.Thr580Ser) n.419C>G c.*240C>G (n.*240C>G) c.731C>G (p.Thr244Ser) | |
17 | g.42787540C>T | CA399657893 | WNK4 | c.1739C>T (p.Thr580Ile) n.419C>T c.*240C>T (n.*240C>T) c.731C>T (p.Thr244Ile) | |
17 | g.42787540_42787543delinsCTTG | CA2260641946 | WNK4 | c.1739_1741+1delinsCTTG n.419_421+1delinsCTTG c.*240_*242+1delinsCTTG c.731_733+1delinsCTTG | |
17 | g.42787541T>A | CA500225580 | WNK4 | c.1740T>A (p.Thr580=) n.420T>A c.*241T>A (n.*241T>A) c.732T>A (p.Thr244=) | |
17 | g.42787541T>C | CA500225582 | WNK4 | c.1740T>C (p.Thr580=) n.420T>C c.*241T>C (n.*241T>C) c.732T>C (p.Thr244=) | |
17 | g.42787541T>G | CA500225581 | WNK4 | c.1740T>G (p.Thr580=) n.420T>G c.*241T>G (n.*241T>G) c.732T>G (p.Thr244=) | |
17 | g.42787542_42787544del | CA8584065 | WNK4 | c.1741_1741+2del n.421_421+2del c.*242_*242+2del c.733_733+2del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42787542T>A | CA399657899 | WNK4 | c.1741T>A (p.Ser581Thr) n.421T>A c.*242T>A (n.*242T>A) c.733T>A (p.Ser245Thr) | |
17 | g.42787542T>C | CA399657903 | WNK4 | c.1741T>C (p.Ser581Pro) n.421T>C c.*242T>C (n.*242T>C) c.733T>C (p.Ser245Pro) | |
17 | g.42787542T>G | CA399657907 | WNK4 | c.1741T>G (p.Ser581Ala) n.421T>G c.*242T>G (n.*242T>G) c.733T>G (p.Ser245Ala) | |
17 | g.42787543G>A | CA399657915 | WNK4 | c.1741+1G>A (n.1741+1G>A) n.421+1G>A c.*242+1G>A (n.*242+1G>A) c.733+1G>A (n.733+1G>A) | |
17 | g.42787543G>C | CA399657914 | WNK4 | c.1741+1G>C (n.1741+1G>C) n.421+1G>C c.*242+1G>C (n.*242+1G>C) c.733+1G>C (n.733+1G>C) | |
17 | g.42787543G= | CA2260641947 | WNK4 | c.1741+1G= (n.1741+1G=) n.421+1G= c.*242+1G= (n.*242+1G=) c.733+1G= (n.733+1G=) | |
17 | g.42787543G>T | CA399657910 | WNK4 | c.1741+1G>T (n.1741+1G>T) n.421+1G>T c.*242+1G>T (n.*242+1G>T) c.733+1G>T (n.733+1G>T) | dbSNP |
17 | g.42787544T>A | CA399657916 | WNK4 | c.1741+2T>A (n.1741+2T>A) n.421+2T>A c.*242+2T>A (n.*242+2T>A) c.733+2T>A (n.733+2T>A) | |
17 | g.42787544T>C | CA399657917 | WNK4 | c.1741+2T>C (n.1741+2T>C) n.421+2T>C c.*242+2T>C (n.*242+2T>C) c.733+2T>C (n.733+2T>C) | |
17 | g.42787544T>G | CA399657920 | WNK4 | c.1741+2T>G (n.1741+2T>G) n.421+2T>G c.*242+2T>G (n.*242+2T>G) c.733+2T>G (n.733+2T>G) | |
17 | g.42787547G>A | CA2638017128 | WNK4 | c.1741+5G>A (n.1741+5G>A) n.421+5G>A c.*242+5G>A (n.*242+5G>A) c.733+5G>A (n.733+5G>A) | gnomAD v4 |
17 | g.42787550_42787551delinsAC | CA2260641948 | WNK4 | c.1741+8_1741+9delinsAC (n.1741+8_1741+9delinsAC) n.421+8_421+9delinsAC c.*242+8_*242+9delinsAC (n.*242+8_*242+9delinsAC) c.733+8_733+9delinsAC (n.733+8_733+9delinsAC) | |
17 | g.42787551C>A | CA2638017129 | WNK4 | c.1741+9C>A (n.1741+9C>A) n.421+9C>A c.*242+9C>A (n.*242+9C>A) c.733+9C>A (n.733+9C>A) | gnomAD v4 |
17 | g.42787551C= | CA2260641950 | WNK4 | c.1741+9C= (n.1741+9C=) n.421+9C= c.*242+9C= (n.*242+9C=) c.733+9C= (n.733+9C=) | |
17 | g.42787551C>G | CA1139665589 | WNK4 | c.1741+9C>G (n.1741+9C>G) n.421+9C>G c.*242+9C>G (n.*242+9C>G) c.733+9C>G (n.733+9C>G) | ClinVar dbSNP gnomAD v4 |
17 | g.42787554del | CA2260641949 | WNK4 | c.1741+12del (n.1741+12del) n.421+12del c.*242+12del (n.*242+12del) c.733+12del (n.733+12del) | dbSNP |
17 | g.42787553C>T | CA2638017131 | WNK4 | c.1741+11C>T (n.1741+11C>T) n.421+11C>T c.*242+11C>T (n.*242+11C>T) c.733+11C>T (n.733+11C>T) | gnomAD v4 |