Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42787448_42787455delCA2638017112WNK4c.1647_1654del (p.Pro550CysfsTer5)
n.327_334del
c.*148_*155del (n.*148_*155del)
c.639_646del (p.Pro214CysfsTer5)
gnomAD v4
17g.42787454dupCA2809532577WNK4c.1653dup (p.Ser552GlnfsTer6)
n.333dup
c.*154dup (n.*154dup)
c.645dup (p.Ser216GlnfsTer6)
17g.42787453_42787454delCA2809532579WNK4c.1652_1653del (p.Pro551GlnfsTer6)
n.332_333del
c.*153_*154del (n.*153_*154del)
c.644_645del (p.Pro215GlnfsTer6)
17g.42787453C>ACA399657174WNK4c.1652C>A (p.Pro551His)
n.332C>A
c.*153C>A (n.*153C>A)
c.644C>A (p.Pro215His)
dbSNP gnomAD v4
17g.42787453C=CA2260641899WNK4c.1652C= (p.Pro551=)
n.332C=
c.*153C= (n.*153C=)
c.644C= (p.Pro215=)
17g.42787453C>GCA399657181WNK4c.1652C>G (p.Pro551Arg)
n.332C>G
c.*153C>G (n.*153C>G)
c.644C>G (p.Pro215Arg)
dbSNP gnomAD v4
17g.42787453C>TCA399657182WNK4c.1652C>T (p.Pro551Leu)
n.332C>T
c.*153C>T (n.*153C>T)
c.644C>T (p.Pro215Leu)
17g.42787454C>ACA500225490WNK4c.1653C>A (p.Pro551=)
n.333C>A
c.*154C>A (n.*154C>A)
c.645C>A (p.Pro215=)
17g.42787454C=CA2260641900WNK4c.1653C= (p.Pro551=)
n.333C=
c.*154C= (n.*154C=)
c.645C= (p.Pro215=)
17g.42787454C>GCA500225491WNK4c.1653C>G (p.Pro551=)
n.333C>G
c.*154C>G (n.*154C>G)
c.645C>G (p.Pro215=)
dbSNP gnomAD v3 gnomAD v4
17g.42787454C>TCA8584046WNK4c.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
17g.42787455A=CA2260641901WNK4c.1654A= (p.Ser552=)
n.334A=
c.*155A= (n.*155A=)
c.646A= (p.Ser216=)
17g.42787455A>CCA399657190WNK4c.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
17g.42787455A>GCA399657193WNK4c.1654A>G (p.Ser552Gly)
n.334A>G
c.*155A>G (n.*155A>G)
c.646A>G (p.Ser216Gly)
gnomAD v4
17g.42787455A>TCA399657199WNK4c.1654A>T (p.Ser552Cys)
n.334A>T
c.*155A>T (n.*155A>T)
c.646A>T (p.Ser216Cys)
17g.42787456G>ACA399657203WNK4c.1655G>A (p.Ser552Asn)
n.335G>A
c.*156G>A (n.*156G>A)
c.647G>A (p.Ser216Asn)
17g.42787456G>CCA8584047WNK4c.1655G>C (p.Ser552Thr)
n.335G>C
c.*156G>C (n.*156G>C)
c.647G>C (p.Ser216Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42787456G=CA2260641902WNK4c.1655G= (p.Ser552=)
n.335G=
c.*156G= (n.*156G=)
c.647G= (p.Ser216=)
17g.42787456G>TCA399657209WNK4c.1655G>T (p.Ser552Ile)
n.335G>T
c.*156G>T (n.*156G>T)
c.647G>T (p.Ser216Ile)
gnomAD v4
17g.42787457T>ACA399657211WNK4c.1656T>A (p.Ser552Arg)
n.336T>A
c.*157T>A (n.*157T>A)
c.648T>A (p.Ser216Arg)
17g.42787457T>CCA8584048WNK4c.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
17g.42787457T>GCA399657213WNK4c.1656T>G (p.Ser552Arg)
n.336T>G
c.*157T>G (n.*157T>G)
c.648T>G (p.Ser216Arg)
gnomAD v3 gnomAD v4
17g.42787457T=CA2260641903WNK4c.1656T= (p.Ser552=)
n.336T=
c.*157T= (n.*157T=)
c.648T= (p.Ser216=)
17g.42787458G>ACA399657223WNK4c.1657G>A (p.Val553Ile)
n.337G>A
c.*158G>A (n.*158G>A)
c.649G>A (p.Val217Ile)
gnomAD v4
17g.42787458G>CCA399657219WNK4c.1657G>C (p.Val553Leu)
n.337G>C
c.*158G>C (n.*158G>C)
c.649G>C (p.Val217Leu)
17g.42787458G>TCA399657215WNK4c.1657G>T (p.Val553Phe)
n.337G>T
c.*158G>T (n.*158G>T)
c.649G>T (p.Val217Phe)
17g.42787459T>ACA399657234WNK4c.1658T>A (p.Val553Asp)
n.338T>A
c.*159T>A (n.*159T>A)
c.650T>A (p.Val217Asp)
17g.42787459T>CCA399657226WNK4c.1658T>C (p.Val553Ala)
n.338T>C
c.*159T>C (n.*159T>C)
c.650T>C (p.Val217Ala)
17g.42787459T>GCA399657232WNK4c.1658T>G (p.Val553Gly)
n.338T>G
c.*159T>G (n.*159T>G)
c.650T>G (p.Val217Gly)
17g.42787459_42787469delCA2638017120WNK4c.1658_1668del (p.Val553GlyfsTer3)
n.338_348del
c.*159_*169del (n.*159_*169del)
c.650_660del (p.Val217GlyfsTer3)
gnomAD v4
17g.42787460C>ACA500225494WNK4c.1659C>A (p.Val553=)
n.339C>A
c.*160C>A (n.*160C>A)
c.651C>A (p.Val217=)
17g.42787460C=CA2260641904WNK4c.1659C= (p.Val553=)
n.339C=
c.*160C= (n.*160C=)
c.651C= (p.Val217=)
17g.42787460C>GCA500225495WNK4c.1659C>G (p.Val553=)
n.339C>G
c.*160C>G (n.*160C>G)
c.651C>G (p.Val217=)
17g.42787460C>TCA8584049WNK4c.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
17g.42787461T>ACA290785123WNK4c.1660T>A (p.Phe554Ile)
n.340T>A
c.*161T>A (n.*161T>A)
c.652T>A (p.Phe218Ile)
dbSNP gnomAD v3 gnomAD v4
17g.42787461T>CCA399657245WNK4c.1660T>C (p.Phe554Leu)
n.340T>C
c.*161T>C (n.*161T>C)
c.652T>C (p.Phe218Leu)
17g.42787461T>GCA399657249WNK4c.1660T>G (p.Phe554Val)
n.340T>G
c.*161T>G (n.*161T>G)
c.652T>G (p.Phe218Val)
gnomAD v3 gnomAD v4
17g.42787461T=CA2260641905WNK4c.1660T= (p.Phe554=)
n.340T=
c.*161T= (n.*161T=)
c.652T= (p.Phe218=)
17g.42787462T>ACA399657252WNK4c.1661T>A (p.Phe554Tyr)
n.341T>A
c.*162T>A (n.*162T>A)
c.653T>A (p.Phe218Tyr)
gnomAD v4
17g.42787462T>CCA399657255WNK4c.1661T>C (p.Phe554Ser)
n.341T>C
c.*162T>C (n.*162T>C)
c.653T>C (p.Phe218Ser)
dbSNP gnomAD v4
17g.42787462T>GCA399657267WNK4c.1661T>G (p.Phe554Cys)
n.341T>G
c.*162T>G (n.*162T>G)
c.653T>G (p.Phe218Cys)
17g.42787462T=CA2260641906WNK4c.1661T= (p.Phe554=)
n.341T=
c.*162T= (n.*162T=)
c.653T= (p.Phe218=)
17g.42787463C>ACA399657280WNK4c.1662C>A (p.Phe554Leu)
n.342C>A
c.*163C>A (n.*163C>A)
c.654C>A (p.Phe218Leu)
17g.42787463C=CA2260641907WNK4c.1662C= (p.Phe554=)
n.342C=
c.*163C= (n.*163C=)
c.654C= (p.Phe218=)
17g.42787463C>GCA399657284WNK4c.1662C>G (p.Phe554Leu)
n.342C>G
c.*163C>G (n.*163C>G)
c.654C>G (p.Phe218Leu)
17g.42787463C>TCA290785128WNK4c.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
17g.42787468dupCA626220175WNK4c.1667dup (p.Glu557Ter)
n.347dup
c.*168dup (n.*168dup)
c.659dup (p.Glu221Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42787468delCA2576279500WNK4c.1667del (p.Pro556LeufsTer?)
n.347del
c.*168del (n.*168del)
c.659del (p.Pro220LeufsTer?)
gnomAD v4
17g.42787464C>ACA8584050WNK4c.1663C>A (p.Pro555Thr)
n.343C>A
c.*164C>A (n.*164C>A)
c.655C>A (p.Pro219Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42787464C=CA2260641908WNK4c.1663C= (p.Pro555=)
n.343C=
c.*164C= (n.*164C=)
c.655C= (p.Pro219=)
17g.42787464C>GCA399657296WNK4c.1663C>G (p.Pro555Ala)
n.343C>G
c.*164C>G (n.*164C>G)
c.655C>G (p.Pro219Ala)
17g.42787464C>TCA399657293WNK4c.1663C>T (p.Pro555Ser)
n.343C>T
c.*164C>T (n.*164C>T)
c.655C>T (p.Pro219Ser)
gnomAD v4
17g.42787465C>ACA8584052WNK4c.1664C>A (p.Pro555His)
n.344C>A
c.*165C>A (n.*165C>A)
c.656C>A (p.Pro219His)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42787465C=CA2260641909WNK4c.1664C= (p.Pro555=)
n.344C=
c.*165C= (n.*165C=)
c.656C= (p.Pro219=)
17g.42787465C>GCA8584051WNK4c.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
17g.42787465C>TCA399657320WNK4c.1664C>T (p.Pro555Leu)
n.344C>T
c.*165C>T (n.*165C>T)
c.656C>T (p.Pro219Leu)
17g.42787466C>ACA500225498WNK4c.1665C>A (p.Pro555=)
n.345C>A
c.*166C>A (n.*166C>A)
c.657C>A (p.Pro219=)
17g.42787466C>GCA500225499WNK4c.1665C>G (p.Pro555=)
n.345C>G
c.*166C>G (n.*166C>G)
c.657C>G (p.Pro219=)
17g.42787466C>TCA500225500WNK4c.1665C>T (p.Pro555=)
n.345C>T
c.*166C>T (n.*166C>T)
c.657C>T (p.Pro219=)
17g.42787467C>ACA8584054WNK4c.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
17g.42787467C=CA2260641910WNK4c.1666C= (p.Pro556=)
n.346C=
c.*167C= (n.*167C=)
c.658C= (p.Pro220=)
17g.42787467C>GCA8584053WNK4c.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
17g.42787467C>TCA399657328WNK4c.1666C>T (p.Pro556Ser)
n.346C>T
c.*167C>T (n.*167C>T)
c.658C>T (p.Pro220Ser)
dbSNP gnomAD v2 gnomAD v4
17g.42787467_42787469delinsCCTCA2260641911WNK4c.1666_1668delinsCCT (p.Pro556=)
n.346_348delinsCCT
c.*167_*169delinsCCT (n.*167_*169delinsCCT)
c.658_660delinsCCT (p.Pro220=)
17g.42787468C>ACA399657331WNK4c.1667C>A (p.Pro556His)
n.347C>A
c.*168C>A (n.*168C>A)
c.659C>A (p.Pro220His)
dbSNP gnomAD v2 gnomAD v4
17g.42787468C=CA2260641912WNK4c.1667C= (p.Pro556=)
n.347C=
c.*168C= (n.*168C=)
c.659C= (p.Pro220=)
17g.42787468C>GCA399657332WNK4c.1667C>G (p.Pro556Arg)
n.347C>G
c.*168C>G (n.*168C>G)
c.659C>G (p.Pro220Arg)
17g.42787468C>TCA399657333WNK4c.1667C>T (p.Pro556Leu)
n.347C>T
c.*168C>T (n.*168C>T)
c.659C>T (p.Pro220Leu)
17g.42787468_42787469delCA983848430WNK4c.1667_1668del (p.Pro556ArgfsTer3)
n.347_348del
c.*168_*169del (n.*168_*169del)
c.659_660del (p.Pro220ArgfsTer3)
dbSNP gnomAD v3 gnomAD v4
17g.42787468_42787469delinsCTCA2260641913WNK4c.1667_1668delinsCT (p.Pro556=)
n.347_348delinsCT
c.*168_*169delinsCT (n.*168_*169delinsCT)
c.659_660delinsCT (p.Pro220=)
17g.42787468_42787469insGCA626220176WNK4c.1667_1668insG (p.Glu557Ter)
n.347_348insG
c.*168_*169insG (n.*168_*169insG)
c.659_660insG (p.Glu221Ter)
dbSNP gnomAD v2 gnomAD v4
17g.42787469delCA8584055WNK4c.1668del (p.Glu557SerfsTer?)
n.348del
c.*169del (n.*169del)
c.660del (p.Glu221SerfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42787469T>ACA500225502WNK4c.1668T>A (p.Pro556=)
n.348T>A
c.*169T>A (n.*169T>A)
c.660T>A (p.Pro220=)
17g.42787469T>CCA500225503WNK4c.1668T>C (p.Pro556=)
n.348T>C
c.*169T>C (n.*169T>C)
c.660T>C (p.Pro220=)
gnomAD v4
17g.42787469T>GCA500225504WNK4c.1668T>G (p.Pro556=)
n.348T>G
c.*169T>G (n.*169T>G)
c.660T>G (p.Pro220=)
17g.42787469dupCA626220177WNK4c.1668dup (p.Glu557Ter)
n.348dup
c.*169dup (n.*169dup)
c.660dup (p.Glu221Ter)
dbSNP gnomAD v2 gnomAD v4
17g.42787470G>ACA399657335WNK4c.1669G>A (p.Glu557Lys)
n.349G>A
c.*170G>A (n.*170G>A)
c.661G>A (p.Glu221Lys)
17g.42787470G>CCA399657337WNK4c.1669G>C (p.Glu557Gln)
n.349G>C
c.*170G>C (n.*170G>C)
c.661G>C (p.Glu221Gln)
17g.42787470G>TCA399657338WNK4c.1669G>T (p.Glu557Ter)
n.349G>T
c.*170G>T (n.*170G>T)
c.661G>T (p.Glu221Ter)
17g.42787471A>CCA399657343WNK4c.1670A>C (p.Glu557Ala)
n.350A>C
c.*171A>C (n.*171A>C)
c.662A>C (p.Glu221Ala)
17g.42787471A>GCA399657349WNK4c.1670A>G (p.Glu557Gly)
n.350A>G
c.*171A>G (n.*171A>G)
c.662A>G (p.Glu221Gly)
gnomAD v4
17g.42787471A>TCA399657342WNK4c.1670A>T (p.Glu557Val)
n.350A>T
c.*171A>T (n.*171A>T)
c.662A>T (p.Glu221Val)
17g.42787472G>ACA500225506WNK4c.1671G>A (p.Glu557=)
n.351G>A
c.*172G>A (n.*172G>A)
c.663G>A (p.Glu221=)
gnomAD v4
17g.42787472G>CCA399657353WNK4c.1671G>C (p.Glu557Asp)
n.351G>C
c.*172G>C (n.*172G>C)
c.663G>C (p.Glu221Asp)
17g.42787472G>TCA399657356WNK4c.1671G>T (p.Glu557Asp)
n.351G>T
c.*172G>T (n.*172G>T)
c.663G>T (p.Glu221Asp)
gnomAD v4
17g.42787473C>ACA399657360WNK4c.1672C>A (p.Pro558Thr)
n.352C>A
c.*173C>A (n.*173C>A)
c.664C>A (p.Pro222Thr)
dbSNP
17g.42787473C=CA2260641914WNK4c.1672C= (p.Pro558=)
n.352C=
c.*173C= (n.*173C=)
c.664C= (p.Pro222=)
17g.42787473C>GCA399657363WNK4c.1672C>G (p.Pro558Ala)
n.352C>G
c.*173C>G (n.*173C>G)
c.664C>G (p.Pro222Ala)
17g.42787473C>TCA8584056WNK4c.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
17g.42787473_42787475delCA2638017124WNK4c.1672_1674del (p.Pro558del)
n.352_354del
c.*173_*175del (n.*173_*175del)
c.664_666del (p.Pro222del)
gnomAD v4
17g.42787474C>ACA399657368WNK4c.1673C>A (p.Pro558His)
n.353C>A
c.*174C>A (n.*174C>A)
c.665C>A (p.Pro222His)
17g.42787474C>GCA399657371WNK4c.1673C>G (p.Pro558Arg)
n.353C>G
c.*174C>G (n.*174C>G)
c.665C>G (p.Pro222Arg)
17g.42787474C>TCA399657372WNK4c.1673C>T (p.Pro558Leu)
n.353C>T
c.*174C>T (n.*174C>T)
c.665C>T (p.Pro222Leu)
gnomAD v4
17g.42787475T>ACA500225508WNK4c.1674T>A (p.Pro558=)
n.354T>A
c.*175T>A (n.*175T>A)
c.666T>A (p.Pro222=)
17g.42787475T>CCA8584057WNK4c.1674T>C (p.Pro558=)
n.354T>C
c.*175T>C (n.*175T>C)
c.666T>C (p.Pro222=)
dbSNP ExAC gnomAD v2
17g.42787475T>GCA500225509WNK4c.1674T>G (p.Pro558=)
n.354T>G
c.*175T>G (n.*175T>G)
c.666T>G (p.Pro222=)
17g.42787475T=CA2260641915WNK4c.1674T= (p.Pro558=)
n.354T=
c.*175T= (n.*175T=)
c.666T= (p.Pro222=)
17g.42787476G>ACA399657376WNK4c.1675G>A (p.Glu559Lys)
n.355G>A
c.*176G>A (n.*176G>A)
c.667G>A (p.Glu223Lys)
17g.42787476G>CCA399657378WNK4c.1675G>C (p.Glu559Gln)
n.355G>C
c.*176G>C (n.*176G>C)
c.667G>C (p.Glu223Gln)
17g.42787476G>TCA399657381WNK4c.1675G>T (p.Glu559Ter)
n.355G>T
c.*176G>T (n.*176G>T)
c.667G>T (p.Glu223Ter)
17g.42787479_42787481delCA2695201330WNK4c.1678_1680del (p.Glu560del)
n.358_360del
c.*179_*181del (n.*179_*181del)
c.670_672del (p.Glu224del)
ClinVar
17g.42787477A>CCA399657385WNK4c.1676A>C (p.Glu559Ala)
n.356A>C
c.*177A>C (n.*177A>C)
c.668A>C (p.Glu223Ala)
17g.42787477A>GCA399657387WNK4c.1676A>G (p.Glu559Gly)
n.356A>G
c.*177A>G (n.*177A>G)
c.668A>G (p.Glu223Gly)
gnomAD v4
17g.42787477A>TCA399657391WNK4c.1676A>T (p.Glu559Val)
n.356A>T
c.*177A>T (n.*177A>T)
c.668A>T (p.Glu223Val)
17g.42787478G>ACA500225513WNK4c.1677G>A (p.Glu559=)
n.357G>A
c.*178G>A (n.*178G>A)
c.669G>A (p.Glu223=)
COSMIC COSMIC
17g.42787478G>CCA399657393WNK4c.1677G>C (p.Glu559Asp)
n.357G>C
c.*178G>C (n.*178G>C)
c.669G>C (p.Glu223Asp)
17g.42787478G>TCA399657395WNK4c.1677G>T (p.Glu559Asp)
n.357G>T
c.*178G>T (n.*178G>T)
c.669G>T (p.Glu223Asp)
17g.42787479G>ACA399657398WNK4c.1678G>A (p.Glu560Lys)
n.358G>A
c.*179G>A (n.*179G>A)
c.670G>A (p.Glu224Lys)
17g.42787479G>CCA399657399WNK4c.1678G>C (p.Glu560Gln)
n.358G>C
c.*179G>C (n.*179G>C)
c.670G>C (p.Glu224Gln)
17g.42787479G>TCA399657400WNK4c.1678G>T (p.Glu560Ter)
n.358G>T
c.*179G>T (n.*179G>T)
c.670G>T (p.Glu224Ter)
17g.42787480A=CA2260641916WNK4c.1679A= (p.Glu560=)
n.359A=
c.*180A= (n.*180A=)
c.671A= (p.Glu224=)
17g.42787480A>CCA399657401WNK4c.1679A>C (p.Glu560Ala)
n.359A>C
c.*180A>C (n.*180A>C)
c.671A>C (p.Glu224Ala)
17g.42787480A>GCA16044426WNK4c.1679A>G (p.Glu560Gly)
n.359A>G
c.*180A>G (n.*180A>G)
c.671A>G (p.Glu224Gly)
ClinVar dbSNP gnomAD v4
17g.42787480A>TCA399657403WNK4c.1679A>T (p.Glu560Val)
n.359A>T
c.*180A>T (n.*180A>T)
c.671A>T (p.Glu224Val)
17g.42787481G>ACA500225517WNK4c.1680G>A (p.Glu560=)
n.360G>A
c.*181G>A (n.*181G>A)
c.672G>A (p.Glu224=)
17g.42787481G>CCA399657406WNK4c.1680G>C (p.Glu560Asp)
n.360G>C
c.*181G>C (n.*181G>C)
c.672G>C (p.Glu224Asp)
17g.42787481G>TCA399657409WNK4c.1680G>T (p.Glu560Asp)
n.360G>T
c.*181G>T (n.*181G>T)
c.672G>T (p.Glu224Asp)
17g.42787482C>ACA399657412WNK4c.1681C>A (p.Pro561Thr)
n.361C>A
c.*182C>A (n.*182C>A)
c.673C>A (p.Pro225Thr)
17g.42787482C=CA2260641917WNK4c.1681C= (p.Pro561=)
n.361C=
c.*182C= (n.*182C=)
c.673C= (p.Pro225=)
17g.42787482C>GCA399657415WNK4c.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
17g.42787482C>TCA399657417WNK4c.1681C>T (p.Pro561Ser)
n.361C>T
c.*182C>T (n.*182C>T)
c.673C>T (p.Pro225Ser)
17g.42787482_42787484delCA2638017126WNK4c.1681_1683del (p.Pro561del)
n.361_363del
c.*182_*184del (n.*182_*184del)
c.673_675del (p.Pro225del)
gnomAD v4
17g.42787483C>ACA399657422WNK4c.1682C>A (p.Pro561Gln)
n.362C>A
c.*183C>A (n.*183C>A)
c.674C>A (p.Pro225Gln)
17g.42787483C=CA2260641918WNK4c.1682C= (p.Pro561=)
n.362C=
c.*183C= (n.*183C=)
c.674C= (p.Pro225=)
17g.42787483C>GCA399657420WNK4c.1682C>G (p.Pro561Arg)
n.362C>G
c.*183C>G (n.*183C>G)
c.674C>G (p.Pro225Arg)
17g.42787483C>TCA16044427WNK4c.1682C>T (p.Pro561Leu)
n.362C>T
c.*183C>T (n.*183C>T)
c.674C>T (p.Pro225Leu)
ClinVar dbSNP
17g.42787484A>CCA500225521WNK4c.1683A>C (p.Pro561=)
n.363A>C
c.*184A>C (n.*184A>C)
c.675A>C (p.Pro225=)
17g.42787484A>GCA500225519WNK4c.1683A>G (p.Pro561=)
n.363A>G
c.*184A>G (n.*184A>G)
c.675A>G (p.Pro225=)
17g.42787484A>TCA500225520WNK4c.1683A>T (p.Pro561=)
n.363A>T
c.*184A>T (n.*184A>T)
c.675A>T (p.Pro225=)
17g.42787485G>ACA254226WNK4c.1684G>A (p.Glu562Lys)
n.364G>A
c.*185G>A (n.*185G>A)
c.676G>A (p.Glu226Lys)
ClinVar dbSNP
17g.42787485G>CCA399657427WNK4c.1684G>C (p.Glu562Gln)
n.364G>C
c.*185G>C (n.*185G>C)
c.676G>C (p.Glu226Gln)
17g.42787485G=CA2260641919WNK4c.1684G= (p.Glu562=)
n.364G=
c.*185G= (n.*185G=)
c.676G= (p.Glu226=)
17g.42787485G>TCA399657428WNK4c.1684G>T (p.Glu562Ter)
n.364G>T
c.*185G>T (n.*185G>T)
c.676G>T (p.Glu226Ter)
17g.42787486A>CCA399657431WNK4c.1685A>C (p.Glu562Ala)
n.365A>C
c.*186A>C (n.*186A>C)
c.677A>C (p.Glu226Ala)
17g.42787486A>GCA399657433WNK4c.1685A>G (p.Glu562Gly)
n.365A>G
c.*186A>G (n.*186A>G)
c.677A>G (p.Glu226Gly)
gnomAD v4
17g.42787486A>TCA399657434WNK4c.1685A>T (p.Glu562Val)
n.365A>T
c.*186A>T (n.*186A>T)
c.677A>T (p.Glu226Val)
17g.42787487G>ACA500225525WNK4c.1686G>A (p.Glu562=)
n.366G>A
c.*187G>A (n.*187G>A)
c.678G>A (p.Glu226=)
gnomAD v4 COSMIC COSMIC
17g.42787487G>CCA399657441WNK4c.1686G>C (p.Glu562Asp)
n.366G>C
c.*187G>C (n.*187G>C)
c.678G>C (p.Glu226Asp)
17g.42787487G>TCA399657436WNK4c.1686G>T (p.Glu562Asp)
n.366G>T
c.*187G>T (n.*187G>T)
c.678G>T (p.Glu226Asp)
17g.42787488G>ACA399657446WNK4c.1687G>A (p.Ala563Thr)
n.367G>A
c.*188G>A (n.*188G>A)
c.679G>A (p.Ala227Thr)
17g.42787488G>CCA399657449WNK4c.1687G>C (p.Ala563Pro)
n.367G>C
c.*188G>C (n.*188G>C)
c.679G>C (p.Ala227Pro)
17g.42787488G>TCA399657452WNK4c.1687G>T (p.Ala563Ser)
n.367G>T
c.*188G>T (n.*188G>T)
c.679G>T (p.Ala227Ser)
gnomAD v4
17g.42787489C>ACA399657455WNK4c.1688C>A (p.Ala563Glu)
n.368C>A
c.*189C>A (n.*189C>A)
c.680C>A (p.Ala227Glu)
gnomAD v4
17g.42787489C>GCA399657458WNK4c.1688C>G (p.Ala563Gly)
n.368C>G
c.*189C>G (n.*189C>G)
c.680C>G (p.Ala227Gly)
17g.42787489C>TCA399657460WNK4c.1688C>T (p.Ala563Val)
n.368C>T
c.*189C>T (n.*189C>T)
c.680C>T (p.Ala227Val)
17g.42787490A=CA2260641920WNK4c.1689A= (p.Ala563=)
n.369A=
c.*190A= (n.*190A=)
c.681A= (p.Ala227=)
17g.42787490A>CCA500225527WNK4c.1689A>C (p.Ala563=)
n.369A>C
c.*190A>C (n.*190A>C)
c.681A>C (p.Ala227=)
17g.42787490A>GCA500225528WNK4c.1689A>G (p.Ala563=)
n.369A>G
c.*190A>G (n.*190A>G)
c.681A>G (p.Ala227=)
dbSNP gnomAD v2 gnomAD v4
17g.42787490A>TCA500225529WNK4c.1689A>T (p.Ala563=)
n.369A>T
c.*190A>T (n.*190A>T)
c.681A>T (p.Ala227=)
17g.42787491G>ACA399657465WNK4c.1690G>A (p.Asp564Asn)
n.370G>A
c.*191G>A (n.*191G>A)
c.682G>A (p.Asp228Asn)
17g.42787491G>CCA16044428WNK4c.1690G>C (p.Asp564His)
n.370G>C
c.*191G>C (n.*191G>C)
c.682G>C (p.Asp228His)
ClinVar dbSNP
17g.42787491G=CA2260641921WNK4c.1690G= (p.Asp564=)
n.370G=
c.*191G= (n.*191G=)
c.682G= (p.Asp228=)
17g.42787491G>TCA399657468WNK4c.1690G>T (p.Asp564Tyr)
n.370G>T
c.*191G>T (n.*191G>T)
c.682G>T (p.Asp228Tyr)
17g.42787492A=CA2260641922WNK4c.1691A= (p.Asp564=)
n.371A=
c.*192A= (n.*192A=)
c.683A= (p.Asp228=)
17g.42787492A>CCA254227WNK4c.1691A>C (p.Asp564Ala)
n.371A>C
c.*192A>C (n.*192A>C)
c.683A>C (p.Asp228Ala)
ClinVar dbSNP gnomAD v4
17g.42787492A>GCA399657475WNK4c.1691A>G (p.Asp564Gly)
n.371A>G
c.*192A>G (n.*192A>G)
c.683A>G (p.Asp228Gly)
17g.42787492A>TCA399657477WNK4c.1691A>T (p.Asp564Val)
n.371A>T
c.*192A>T (n.*192A>T)
c.683A>T (p.Asp228Val)
17g.42787493C>ACA399657482WNK4c.1692C>A (p.Asp564Glu)
n.372C>A
c.*193C>A (n.*193C>A)
c.684C>A (p.Asp228Glu)
17g.42787493C>GCA399657485WNK4c.1692C>G (p.Asp564Glu)
n.372C>G
c.*193C>G (n.*193C>G)
c.684C>G (p.Asp228Glu)
17g.42787493C>TCA500225532WNK4c.1692C>T (p.Asp564=)
n.372C>T
c.*193C>T (n.*193C>T)
c.684C>T (p.Asp228=)
gnomAD v4
17g.42787494C>ACA399657500WNK4c.1693C>A (p.Gln565Lys)
n.373C>A
c.*194C>A (n.*194C>A)
c.685C>A (p.Gln229Lys)
17g.42787494C=CA2260641923WNK4c.1693C= (p.Gln565=)
n.373C=
c.*194C= (n.*194C=)
c.685C= (p.Gln229=)
17g.42787494C>GCA254225WNK4c.1693C>G (p.Gln565Glu)
n.373C>G
c.*194C>G (n.*194C>G)
c.685C>G (p.Gln229Glu)
ClinVar dbSNP
17g.42787494C>TCA399657505WNK4c.1693C>T (p.Gln565Ter)
n.373C>T
c.*194C>T (n.*194C>T)
c.685C>T (p.Gln229Ter)
17g.42787495A=CA2260641924WNK4c.1694A= (p.Gln565=)
n.374A=
c.*195A= (n.*195A=)
c.686A= (p.Gln229=)
17g.42787495A>CCA399657508WNK4c.1694A>C (p.Gln565Pro)
n.374A>C
c.*195A>C (n.*195A>C)
c.686A>C (p.Gln229Pro)
ClinVar
17g.42787495A>GCA399657510WNK4c.1694A>G (p.Gln565Arg)
n.374A>G
c.*195A>G (n.*195A>G)
c.686A>G (p.Gln229Arg)
17g.42787495A>TCA399657512WNK4c.1694A>T (p.Gln565Leu)
n.374A>T
c.*195A>T (n.*195A>T)
c.686A>T (p.Gln229Leu)
dbSNP
17g.42787496G>ACA500225534WNK4c.1695G>A (p.Gln565=)
n.375G>A
c.*196G>A (n.*196G>A)
c.687G>A (p.Gln229=)
17g.42787496G>CCA399657517WNK4c.1695G>C (p.Gln565His)
n.375G>C
c.*196G>C (n.*196G>C)
c.687G>C (p.Gln229His)
17g.42787496G>TCA399657515WNK4c.1695G>T (p.Gln565His)
n.375G>T
c.*196G>T (n.*196G>T)
c.687G>T (p.Gln229His)
17g.42787497C>ACA399657521WNK4c.1696C>A (p.His566Asn)
n.376C>A
c.*197C>A (n.*197C>A)
c.688C>A (p.His230Asn)
17g.42787497C>GCA399657529WNK4c.1696C>G (p.His566Asp)
n.376C>G
c.*197C>G (n.*197C>G)
c.688C>G (p.His230Asp)
17g.42787497C>TCA399657525WNK4c.1696C>T (p.His566Tyr)
n.376C>T
c.*197C>T (n.*197C>T)
c.688C>T (p.His230Tyr)
17g.42787498A=CA2260641925WNK4c.1697A= (p.His566=)
n.377A=
c.*198A= (n.*198A=)
c.689A= (p.His230=)
17g.42787498A>CCA399657534WNK4c.1697A>C (p.His566Pro)
n.377A>C
c.*198A>C (n.*198A>C)
c.689A>C (p.His230Pro)
dbSNP
17g.42787498A>GCA399657539WNK4c.1697A>G (p.His566Arg)
n.377A>G
c.*198A>G (n.*198A>G)
c.689A>G (p.His230Arg)
17g.42787498A>TCA399657536WNK4c.1697A>T (p.His566Leu)
n.377A>T
c.*198A>T (n.*198A>T)
c.689A>T (p.His230Leu)
17g.42787499C>ACA399657544WNK4c.1698C>A (p.His566Gln)
n.378C>A
c.*199C>A (n.*199C>A)
c.690C>A (p.His230Gln)
17g.42787499C=CA2260641926WNK4c.1698C= (p.His566=)
n.378C=
c.*199C= (n.*199C=)
c.690C= (p.His230=)
17g.42787499C>GCA399657546WNK4c.1698C>G (p.His566Gln)
n.378C>G
c.*199C>G (n.*199C>G)
c.690C>G (p.His230Gln)
17g.42787499C>TCA500225538WNK4c.1698C>T (p.His566=)
n.378C>T
c.*199C>T (n.*199C>T)
c.690C>T (p.His230=)
dbSNP
17g.42787500C>ACA399657550WNK4c.1699C>A (p.Gln567Lys)
n.379C>A
c.*200C>A (n.*200C>A)
c.691C>A (p.Gln231Lys)
17g.42787500C=CA2260641927WNK4c.1699C= (p.Gln567=)
n.379C=
c.*200C= (n.*200C=)
c.691C= (p.Gln231=)
17g.42787500C>GCA399657553WNK4c.1699C>G (p.Gln567Glu)
n.379C>G
c.*200C>G (n.*200C>G)
c.691C>G (p.Gln231Glu)
dbSNP
17g.42787500C>TCA399657555WNK4c.1699C>T (p.Gln567Ter)
n.379C>T
c.*200C>T (n.*200C>T)
c.691C>T (p.Gln231Ter)
17g.42787501A=CA2260641928WNK4c.1700A= (p.Gln567=)
n.380A=
c.*201A= (n.*201A=)
c.692A= (p.Gln231=)
17g.42787501A>CCA399657559WNK4c.1700A>C (p.Gln567Pro)
n.380A>C
c.*201A>C (n.*201A>C)
c.692A>C (p.Gln231Pro)
17g.42787501A>GCA290785160WNK4c.1700A>G (p.Gln567Arg)
n.380A>G
c.*201A>G (n.*201A>G)
c.692A>G (p.Gln231Arg)
ClinVar dbSNP
17g.42787501A>TCA399657561WNK4c.1700A>T (p.Gln567Leu)
n.380A>T
c.*201A>T (n.*201A>T)
c.692A>T (p.Gln231Leu)
17g.42787502G>ACA500225539WNK4c.1701G>A (p.Gln567=)
n.381G>A
c.*202G>A (n.*202G>A)
c.693G>A (p.Gln231=)
17g.42787502G>CCA399657562WNK4c.1701G>C (p.Gln567His)
n.381G>C
c.*202G>C (n.*202G>C)
c.693G>C (p.Gln231His)
17g.42787502G>TCA399657563WNK4c.1701G>T (p.Gln567His)
n.381G>T
c.*202G>T (n.*202G>T)
c.693G>T (p.Gln231His)
17g.42787503C>ACA399657565WNK4c.1702C>A (p.Pro568Thr)
n.382C>A
c.*203C>A (n.*203C>A)
c.694C>A (p.Pro232Thr)
17g.42787503C>GCA399657567WNK4c.1702C>G (p.Pro568Ala)
n.382C>G
c.*203C>G (n.*203C>G)
c.694C>G (p.Pro232Ala)
17g.42787503C>TCA399657571WNK4c.1702C>T (p.Pro568Ser)
n.382C>T
c.*203C>T (n.*203C>T)
c.694C>T (p.Pro232Ser)
17g.42787504C>ACA399657580WNK4c.1703C>A (p.Pro568His)
n.383C>A
c.*204C>A (n.*204C>A)
c.695C>A (p.Pro232His)
17g.42787504C>GCA399657574WNK4c.1703C>G (p.Pro568Arg)
n.383C>G
c.*204C>G (n.*204C>G)
c.695C>G (p.Pro232Arg)
17g.42787504C>TCA399657577WNK4c.1703C>T (p.Pro568Leu)
n.383C>T
c.*204C>T (n.*204C>T)
c.695C>T (p.Pro232Leu)
gnomAD v4
17g.42787505C>ACA500225541WNK4c.1704C>A (p.Pro568=)
n.384C>A
c.*205C>A (n.*205C>A)
c.696C>A (p.Pro232=)
dbSNP gnomAD v2 gnomAD v4
17g.42787505C=CA2260641929WNK4c.1704C= (p.Pro568=)
n.384C=
c.*205C= (n.*205C=)
c.696C= (p.Pro232=)
17g.42787505C>GCA500225543WNK4c.1704C>G (p.Pro568=)
n.384C>G
c.*205C>G (n.*205C>G)
c.696C>G (p.Pro232=)
17g.42787505C>TCA500225542WNK4c.1704C>T (p.Pro568=)
n.384C>T
c.*205C>T (n.*205C>T)
c.696C>T (p.Pro232=)
dbSNP gnomAD v3 gnomAD v4
17g.42787505_42787506delinsCTCA2260641930WNK4c.1704_1705delinsCT (p.Pro568=)
n.384_385delinsCT
c.*205_*206delinsCT (n.*205_*206delinsCT)
c.696_697delinsCT (p.Pro232=)
17g.42787506T>ACA290785161WNK4c.1705T>A (p.Phe569Ile)
n.385T>A
c.*206T>A (n.*206T>A)
c.697T>A (p.Phe233Ile)
dbSNP gnomAD v3 gnomAD v4
17g.42787506T>CCA399657585WNK4c.1705T>C (p.Phe569Leu)
n.385T>C
c.*206T>C (n.*206T>C)
c.697T>C (p.Phe233Leu)
17g.42787506T>GCA399657590WNK4c.1705T>G (p.Phe569Val)
n.385T>G
c.*206T>G (n.*206T>G)
c.697T>G (p.Phe233Val)
17g.42787506T=CA2260641931WNK4c.1705T= (p.Phe569=)
n.385T=
c.*206T= (n.*206T=)
c.697T= (p.Phe233=)
17g.42787507delCA626220178WNK4c.1706del (p.Phe569SerfsTer?)
n.386del
c.*207del (n.*207del)
c.698del (p.Phe233SerfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42787507T>ACA399657593WNK4c.1706T>A (p.Phe569Tyr)
n.386T>A
c.*207T>A (n.*207T>A)
c.698T>A (p.Phe233Tyr)
17g.42787507T>CCA399657594WNK4c.1706T>C (p.Phe569Ser)
n.386T>C
c.*207T>C (n.*207T>C)
c.698T>C (p.Phe233Ser)
17g.42787507T>GCA399657595WNK4c.1706T>G (p.Phe569Cys)
n.386T>G
c.*207T>G (n.*207T>G)
c.698T>G (p.Phe233Cys)
17g.42787508C>ACA399657599WNK4c.1707C>A (p.Phe569Leu)
n.387C>A
c.*208C>A (n.*208C>A)
c.699C>A (p.Phe233Leu)
17g.42787508C>GCA399657601WNK4c.1707C>G (p.Phe569Leu)
n.387C>G
c.*208C>G (n.*208C>G)
c.699C>G (p.Phe233Leu)
17g.42787508C>TCA500225544WNK4c.1707C>T (p.Phe569=)
n.387C>T
c.*208C>T (n.*208C>T)
c.699C>T (p.Phe233=)
17g.42787509C>ACA399657604WNK4c.1708C>A (p.Leu570Ile)
n.388C>A
c.*209C>A (n.*209C>A)
c.700C>A (p.Leu234Ile)
17g.42787509C>GCA399657606WNK4c.1708C>G (p.Leu570Val)
n.388C>G
c.*209C>G (n.*209C>G)
c.700C>G (p.Leu234Val)
17g.42787509C>TCA399657609WNK4c.1708C>T (p.Leu570Phe)
n.388C>T
c.*209C>T (n.*209C>T)
c.700C>T (p.Leu234Phe)
COSMIC COSMIC
17g.42787509_42787510delinsCTCA2260641932WNK4c.1708_1709delinsCT (p.Leu570=)
n.388_389delinsCT
c.*209_*210delinsCT (n.*209_*210delinsCT)
c.700_701delinsCT (p.Leu234=)
17g.42787510T>ACA399657618WNK4c.1709T>A (p.Leu570His)
n.389T>A
c.*210T>A (n.*210T>A)
c.701T>A (p.Leu234His)
gnomAD v4
17g.42787510T>CCA399657621WNK4c.1709T>C (p.Leu570Pro)
n.389T>C
c.*210T>C (n.*210T>C)
c.701T>C (p.Leu234Pro)
gnomAD v4
17g.42787510T>GCA399657615WNK4c.1709T>G (p.Leu570Arg)
n.389T>G
c.*210T>G (n.*210T>G)
c.701T>G (p.Leu234Arg)
17g.42787513delCA626220179WNK4c.1712del (p.Phe571SerfsTer?)
n.392del
c.*213del (n.*213del)
c.704del (p.Phe235SerfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42787511T>ACA500225548WNK4c.1710T>A (p.Leu570=)
n.390T>A
c.*211T>A (n.*211T>A)
c.702T>A (p.Leu234=)
17g.42787511T>CCA500225549WNK4c.1710T>C (p.Leu570=)
n.390T>C
c.*211T>C (n.*211T>C)
c.702T>C (p.Leu234=)
COSMIC COSMIC
17g.42787511T>GCA500225550WNK4c.1710T>G (p.Leu570=)
n.390T>G
c.*211T>G (n.*211T>G)
c.702T>G (p.Leu234=)
17g.42787512T>ACA399657625WNK4c.1711T>A (p.Phe571Ile)
n.391T>A
c.*212T>A (n.*212T>A)
c.703T>A (p.Phe235Ile)
17g.42787512T>CCA399657629WNK4c.1711T>C (p.Phe571Leu)
n.391T>C
c.*212T>C (n.*212T>C)
c.703T>C (p.Phe235Leu)
17g.42787512T>GCA399657633WNK4c.1711T>G (p.Phe571Val)
n.391T>G
c.*212T>G (n.*212T>G)
c.703T>G (p.Phe235Val)
17g.42787513T>ACA399657638WNK4c.1712T>A (p.Phe571Tyr)
n.392T>A
c.*213T>A (n.*213T>A)
c.704T>A (p.Phe235Tyr)
17g.42787513T>CCA399657643WNK4c.1712T>C (p.Phe571Ser)
n.392T>C
c.*213T>C (n.*213T>C)
c.704T>C (p.Phe235Ser)
17g.42787513T>GCA399657646WNK4c.1712T>G (p.Phe571Cys)
n.392T>G
c.*213T>G (n.*213T>G)
c.704T>G (p.Phe235Cys)
17g.42787514C>ACA399657650WNK4c.1713C>A (p.Phe571Leu)
n.393C>A
c.*214C>A (n.*214C>A)
c.705C>A (p.Phe235Leu)
17g.42787514C=CA2260641933WNK4c.1713C= (p.Phe571=)
n.393C=
c.*214C= (n.*214C=)
c.705C= (p.Phe235=)
17g.42787514C>GCA399657653WNK4c.1713C>G (p.Phe571Leu)
n.393C>G
c.*214C>G (n.*214C>G)
c.705C>G (p.Phe235Leu)
17g.42787514C>TCA8584058WNK4c.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
17g.42787515C>ACA399657660WNK4c.1714C>A (p.Arg572Ser)
n.394C>A
c.*215C>A (n.*215C>A)
c.706C>A (p.Arg236Ser)
COSMIC COSMIC
17g.42787515C=CA2260641934WNK4c.1714C= (p.Arg572=)
n.394C=
c.*215C= (n.*215C=)
c.706C= (p.Arg236=)
17g.42787515C>GCA399657663WNK4c.1714C>G (p.Arg572Gly)
n.394C>G
c.*215C>G (n.*215C>G)
c.706C>G (p.Arg236Gly)
17g.42787515C>TCA8584059WNK4c.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
17g.42787516G>ACA290785168WNK4c.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
17g.42787516G>CCA399657683WNK4c.1715G>C (p.Arg572Pro)
n.395G>C
c.*216G>C (n.*216G>C)
c.707G>C (p.Arg236Pro)
17g.42787516G=CA2260641936WNK4c.1715G= (p.Arg572=)
n.395G=
c.*216G= (n.*216G=)
c.707G= (p.Arg236=)
17g.42787516G>TCA399657677WNK4c.1715G>T (p.Arg572Leu)
n.395G>T
c.*216G>T (n.*216G>T)
c.707G>T (p.Arg236Leu)
dbSNP gnomAD v2 gnomAD v4
17g.42787516_42787517delinsGCCA2260641935WNK4c.1715_1716delinsGC (p.Arg572=)
n.395_396delinsGC
c.*216_*217delinsGC (n.*216_*217delinsGC)
c.707_708delinsGC (p.Arg236=)
17g.42787517C>ACA500225551WNK4c.1716C>A (p.Arg572=)
n.396C>A
c.*217C>A (n.*217C>A)
c.708C>A (p.Arg236=)
17g.42787517C=CA2260641938WNK4c.1716C= (p.Arg572=)
n.396C=
c.*217C= (n.*217C=)
c.708C= (p.Arg236=)
17g.42787517C>GCA500225552WNK4c.1716C>G (p.Arg572=)
n.396C>G
c.*217C>G (n.*217C>G)
c.708C>G (p.Arg236=)
17g.42787517C>TCA8584060WNK4c.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
17g.42787518delCA2260641937WNK4c.1717del (p.His573ThrfsTer?)
n.397del
c.*218del (n.*218del)
c.709del (p.His237ThrfsTer?)
dbSNP
17g.42787518C>ACA399657691WNK4c.1717C>A (p.His573Asn)
n.397C>A
c.*218C>A (n.*218C>A)
c.709C>A (p.His237Asn)
17g.42787518C=CA2260641939WNK4c.1717C= (p.His573=)
n.397C=
c.*218C= (n.*218C=)
c.709C= (p.His237=)
17g.42787518C>GCA399657696WNK4c.1717C>G (p.His573Asp)
n.397C>G
c.*218C>G (n.*218C>G)
c.709C>G (p.His237Asp)
17g.42787518C>TCA399657699WNK4c.1717C>T (p.His573Tyr)
n.397C>T
c.*218C>T (n.*218C>T)
c.709C>T (p.His237Tyr)
dbSNP gnomAD v2 gnomAD v4
17g.42787519A>CCA399657730WNK4c.1718A>C (p.His573Pro)
n.398A>C
c.*219A>C (n.*219A>C)
c.710A>C (p.His237Pro)
17g.42787519A>GCA399657727WNK4c.1718A>G (p.His573Arg)
n.398A>G
c.*219A>G (n.*219A>G)
c.710A>G (p.His237Arg)
17g.42787519A>TCA399657717WNK4c.1718A>T (p.His573Leu)
n.398A>T
c.*219A>T (n.*219A>T)
c.710A>T (p.His237Leu)
17g.42787520C>ACA399657737WNK4c.1719C>A (p.His573Gln)
n.399C>A
c.*220C>A (n.*220C>A)
c.711C>A (p.His237Gln)
17g.42787520C=CA2260641940WNK4c.1719C= (p.His573=)
n.399C=
c.*220C= (n.*220C=)
c.711C= (p.His237=)
17g.42787520C>GCA399657741WNK4c.1719C>G (p.His573Gln)
n.399C>G
c.*220C>G (n.*220C>G)
c.711C>G (p.His237Gln)
17g.42787520C>TCA8584061WNK4c.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
17g.42787521G>ACA8584063WNK4c.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
17g.42787521G>CCA399657752WNK4c.1720G>C (p.Ala574Pro)
n.400G>C
c.*221G>C (n.*221G>C)
c.712G>C (p.Ala238Pro)
17g.42787521G=CA2260641941WNK4c.1720G= (p.Ala574=)
n.400G=
c.*221G= (n.*221G=)
c.712G= (p.Ala238=)
17g.42787521G>TCA8584062WNK4c.1720G>T (p.Ala574Ser)
n.400G>T
c.*221G>T (n.*221G>T)
c.712G>T (p.Ala238Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42787522C>ACA399657764WNK4c.1721C>A (p.Ala574Asp)
n.401C>A
c.*222C>A (n.*222C>A)
c.713C>A (p.Ala238Asp)
17g.42787522C>GCA399657759WNK4c.1721C>G (p.Ala574Gly)
n.401C>G
c.*222C>G (n.*222C>G)
c.713C>G (p.Ala238Gly)
COSMIC COSMIC
17g.42787522C>TCA399657758WNK4c.1721C>T (p.Ala574Val)
n.401C>T
c.*222C>T (n.*222C>T)
c.713C>T (p.Ala238Val)
17g.42787523C>ACA500225559WNK4c.1722C>A (p.Ala574=)
n.402C>A
c.*223C>A (n.*223C>A)
c.714C>A (p.Ala238=)
17g.42787523C>GCA500225560WNK4c.1722C>G (p.Ala574=)
n.402C>G
c.*223C>G (n.*223C>G)
c.714C>G (p.Ala238=)
17g.42787523C>TCA500225561WNK4c.1722C>T (p.Ala574=)
n.402C>T
c.*223C>T (n.*223C>T)
c.714C>T (p.Ala238=)
17g.42787524A>CCA399657769WNK4c.1723A>C (p.Ser575Arg)
n.403A>C
c.*224A>C (n.*224A>C)
c.715A>C (p.Ser239Arg)
17g.42787524A>GCA399657775WNK4c.1723A>G (p.Ser575Gly)
n.403A>G
c.*224A>G (n.*224A>G)
c.715A>G (p.Ser239Gly)
17g.42787524A>TCA399657771WNK4c.1723A>T (p.Ser575Cys)
n.403A>T
c.*224A>T (n.*224A>T)
c.715A>T (p.Ser239Cys)
17g.42787525G>ACA399657779WNK4c.1724G>A (p.Ser575Asn)
n.404G>A
c.*225G>A (n.*225G>A)
c.716G>A (p.Ser239Asn)
17g.42787525G>CCA399657784WNK4c.1724G>C (p.Ser575Thr)
n.404G>C
c.*225G>C (n.*225G>C)
c.716G>C (p.Ser239Thr)
gnomAD v4
17g.42787525G>TCA399657787WNK4c.1724G>T (p.Ser575Ile)
n.404G>T
c.*225G>T (n.*225G>T)
c.716G>T (p.Ser239Ile)
17g.42787526C>ACA399657790WNK4c.1725C>A (p.Ser575Arg)
n.405C>A
c.*226C>A (n.*226C>A)
c.717C>A (p.Ser239Arg)
17g.42787526C>GCA399657792WNK4c.1725C>G (p.Ser575Arg)
n.405C>G
c.*226C>G (n.*226C>G)
c.717C>G (p.Ser239Arg)
17g.42787526C>TCA500225564WNK4c.1725C>T (p.Ser575=)
n.405C>T
c.*226C>T (n.*226C>T)
c.717C>T (p.Ser239=)
gnomAD v4
17g.42787527T>ACA399657797WNK4c.1726T>A (p.Tyr576Asn)
n.406T>A
c.*227T>A (n.*227T>A)
c.718T>A (p.Tyr240Asn)
17g.42787527T>CCA399657799WNK4c.1726T>C (p.Tyr576His)
n.406T>C
c.*227T>C (n.*227T>C)
c.718T>C (p.Tyr240His)
17g.42787527T>GCA399657802WNK4c.1726T>G (p.Tyr576Asp)
n.406T>G
c.*227T>G (n.*227T>G)
c.718T>G (p.Tyr240Asp)
17g.42787528A>CCA399657809WNK4c.1727A>C (p.Tyr576Ser)
n.407A>C
c.*228A>C (n.*228A>C)
c.719A>C (p.Tyr240Ser)
17g.42787528A>GCA399657811WNK4c.1727A>G (p.Tyr576Cys)
n.407A>G
c.*228A>G (n.*228A>G)
c.719A>G (p.Tyr240Cys)
17g.42787528A>TCA399657816WNK4c.1727A>T (p.Tyr576Phe)
n.407A>T
c.*228A>T (n.*228A>T)
c.719A>T (p.Tyr240Phe)
17g.42787529C>ACA399657825WNK4c.1728C>A (p.Tyr576Ter)
n.408C>A
c.*229C>A (n.*229C>A)
c.720C>A (p.Tyr240Ter)
17g.42787529C=CA2260641942WNK4c.1728C= (p.Tyr576=)
n.408C=
c.*229C= (n.*229C=)
c.720C= (p.Tyr240=)
17g.42787529C>GCA399657821WNK4c.1728C>G (p.Tyr576Ter)
n.408C>G
c.*229C>G (n.*229C>G)
c.720C>G (p.Tyr240Ter)
17g.42787529C>TCA500225566WNK4c.1728C>T (p.Tyr576=)
n.408C>T
c.*229C>T (n.*229C>T)
c.720C>T (p.Tyr240=)
dbSNP gnomAD v2
17g.42787530T>ACA399657828WNK4c.1729T>A (p.Ser577Thr)
n.409T>A
c.*230T>A (n.*230T>A)
c.721T>A (p.Ser241Thr)
17g.42787530T>CCA399657829WNK4c.1729T>C (p.Ser577Pro)
n.409T>C
c.*230T>C (n.*230T>C)
c.721T>C (p.Ser241Pro)
17g.42787530T>GCA399657830WNK4c.1729T>G (p.Ser577Ala)
n.409T>G
c.*230T>G (n.*230T>G)
c.721T>G (p.Ser241Ala)
17g.42787531C>ACA399657831WNK4c.1730C>A (p.Ser577Ter)
n.410C>A
c.*231C>A (n.*231C>A)
c.722C>A (p.Ser241Ter)
17g.42787531C=CA2260641943WNK4c.1730C= (p.Ser577=)
n.410C=
c.*231C= (n.*231C=)
c.722C= (p.Ser241=)
17g.42787531C>GCA399657832WNK4c.1730C>G (p.Ser577Ter)
n.410C>G
c.*231C>G (n.*231C>G)
c.722C>G (p.Ser241Ter)
17g.42787531C>TCA8584064WNK4c.1730C>T (p.Ser577Leu)
n.410C>T
c.*231C>T (n.*231C>T)
c.722C>T (p.Ser241Leu)
dbSNP ExAC gnomAD v2
17g.42787532A>CCA500225570WNK4c.1731A>C (p.Ser577=)
n.411A>C
c.*232A>C (n.*232A>C)
c.723A>C (p.Ser241=)
17g.42787532A>GCA500225567WNK4c.1731A>G (p.Ser577=)
n.411A>G
c.*232A>G (n.*232A>G)
c.723A>G (p.Ser241=)
17g.42787532A>TCA500225568WNK4c.1731A>T (p.Ser577=)
n.411A>T
c.*232A>T (n.*232A>T)
c.723A>T (p.Ser241=)
17g.42787533T>ACA399657834WNK4c.1732T>A (p.Ser578Thr)
n.412T>A
c.*233T>A (n.*233T>A)
c.724T>A (p.Ser242Thr)
17g.42787533T>CCA399657836WNK4c.1732T>C (p.Ser578Pro)
n.412T>C
c.*233T>C (n.*233T>C)
c.724T>C (p.Ser242Pro)
17g.42787533T>GCA399657838WNK4c.1732T>G (p.Ser578Ala)
n.412T>G
c.*233T>G (n.*233T>G)
c.724T>G (p.Ser242Ala)
dbSNP gnomAD v4
17g.42787533T=CA2260641944WNK4c.1732T= (p.Ser578=)
n.412T=
c.*233T= (n.*233T=)
c.724T= (p.Ser242=)
17g.42787534C>ACA399657841WNK4c.1733C>A (p.Ser578Tyr)
n.413C>A
c.*234C>A (n.*234C>A)
c.725C>A (p.Ser242Tyr)
17g.42787534C>GCA399657844WNK4c.1733C>G (p.Ser578Cys)
n.413C>G
c.*234C>G (n.*234C>G)
c.725C>G (p.Ser242Cys)
17g.42787534C>TCA399657848WNK4c.1733C>T (p.Ser578Phe)
n.413C>T
c.*234C>T (n.*234C>T)
c.725C>T (p.Ser242Phe)
17g.42787535T>ACA500225571WNK4c.1734T>A (p.Ser578=)
n.414T>A
c.*235T>A (n.*235T>A)
c.726T>A (p.Ser242=)
17g.42787535T>CCA500225572WNK4c.1734T>C (p.Ser578=)
n.414T>C
c.*235T>C (n.*235T>C)
c.726T>C (p.Ser242=)
17g.42787535T>GCA500225573WNK4c.1734T>G (p.Ser578=)
n.414T>G
c.*235T>G (n.*235T>G)
c.726T>G (p.Ser242=)
17g.42787536A>CCA399657856WNK4c.1735A>C (p.Thr579Pro)
n.415A>C
c.*236A>C (n.*236A>C)
c.727A>C (p.Thr243Pro)
17g.42787536A>GCA399657859WNK4c.1735A>G (p.Thr579Ala)
n.415A>G
c.*236A>G (n.*236A>G)
c.727A>G (p.Thr243Ala)
17g.42787536A>TCA399657853WNK4c.1735A>T (p.Thr579Ser)
n.415A>T
c.*236A>T (n.*236A>T)
c.727A>T (p.Thr243Ser)
17g.42787537C>ACA399657862WNK4c.1736C>A (p.Thr579Asn)
n.416C>A
c.*237C>A (n.*237C>A)
c.728C>A (p.Thr243Asn)
gnomAD v4
17g.42787537C=CA2260641945WNK4c.1736C= (p.Thr579=)
n.416C=
c.*237C= (n.*237C=)
c.728C= (p.Thr243=)
17g.42787537C>GCA399657863WNK4c.1736C>G (p.Thr579Ser)
n.416C>G
c.*237C>G (n.*237C>G)
c.728C>G (p.Thr243Ser)
17g.42787537C>TCA399657866WNK4c.1736C>T (p.Thr579Ile)
n.416C>T
c.*237C>T (n.*237C>T)
c.728C>T (p.Thr243Ile)
dbSNP gnomAD v2 gnomAD v4
17g.42787538C>ACA500225576WNK4c.1737C>A (p.Thr579=)
n.417C>A
c.*238C>A (n.*238C>A)
c.729C>A (p.Thr243=)
17g.42787538C>GCA500225577WNK4c.1737C>G (p.Thr579=)
n.417C>G
c.*238C>G (n.*238C>G)
c.729C>G (p.Thr243=)
17g.42787538C>TCA500225578WNK4c.1737C>T (p.Thr579=)
n.417C>T
c.*238C>T (n.*238C>T)
c.729C>T (p.Thr243=)
gnomAD v4
17g.42787539A>CCA399657869WNK4c.1738A>C (p.Thr580Pro)
n.418A>C
c.*239A>C (n.*239A>C)
c.730A>C (p.Thr244Pro)
17g.42787539A>GCA399657872WNK4c.1738A>G (p.Thr580Ala)
n.418A>G
c.*239A>G (n.*239A>G)
c.730A>G (p.Thr244Ala)
17g.42787539A>TCA399657875WNK4c.1738A>T (p.Thr580Ser)
n.418A>T
c.*239A>T (n.*239A>T)
c.730A>T (p.Thr244Ser)
17g.42787540C>ACA399657891WNK4c.1739C>A (p.Thr580Asn)
n.419C>A
c.*240C>A (n.*240C>A)
c.731C>A (p.Thr244Asn)
17g.42787540C>GCA399657892WNK4c.1739C>G (p.Thr580Ser)
n.419C>G
c.*240C>G (n.*240C>G)
c.731C>G (p.Thr244Ser)
17g.42787540C>TCA399657893WNK4c.1739C>T (p.Thr580Ile)
n.419C>T
c.*240C>T (n.*240C>T)
c.731C>T (p.Thr244Ile)
17g.42787540_42787543delinsCTTGCA2260641946WNK4c.1739_1741+1delinsCTTG
n.419_421+1delinsCTTG
c.*240_*242+1delinsCTTG
c.731_733+1delinsCTTG
17g.42787541T>ACA500225580WNK4c.1740T>A (p.Thr580=)
n.420T>A
c.*241T>A (n.*241T>A)
c.732T>A (p.Thr244=)
17g.42787541T>CCA500225582WNK4c.1740T>C (p.Thr580=)
n.420T>C
c.*241T>C (n.*241T>C)
c.732T>C (p.Thr244=)
17g.42787541T>GCA500225581WNK4c.1740T>G (p.Thr580=)
n.420T>G
c.*241T>G (n.*241T>G)
c.732T>G (p.Thr244=)
17g.42787542_42787544delCA8584065WNK4c.1741_1741+2del
n.421_421+2del
c.*242_*242+2del
c.733_733+2del
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42787542T>ACA399657899WNK4c.1741T>A (p.Ser581Thr)
n.421T>A
c.*242T>A (n.*242T>A)
c.733T>A (p.Ser245Thr)
17g.42787542T>CCA399657903WNK4c.1741T>C (p.Ser581Pro)
n.421T>C
c.*242T>C (n.*242T>C)
c.733T>C (p.Ser245Pro)
17g.42787542T>GCA399657907WNK4c.1741T>G (p.Ser581Ala)
n.421T>G
c.*242T>G (n.*242T>G)
c.733T>G (p.Ser245Ala)
17g.42787543G>ACA399657915WNK4c.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)
17g.42787543G>CCA399657914WNK4c.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)
17g.42787543G=CA2260641947WNK4c.1741+1G= (n.1741+1G=)
n.421+1G=
c.*242+1G= (n.*242+1G=)
c.733+1G= (n.733+1G=)
17g.42787543G>TCA399657910WNK4c.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
17g.42787544T>ACA399657916WNK4c.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)
17g.42787544T>CCA399657917WNK4c.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)
17g.42787544T>GCA399657920WNK4c.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)
17g.42787547G>ACA2638017128WNK4c.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
17g.42787550_42787551delinsACCA2260641948WNK4c.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)
17g.42787551C>ACA2638017129WNK4c.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
17g.42787551C=CA2260641950WNK4c.1741+9C= (n.1741+9C=)
n.421+9C=
c.*242+9C= (n.*242+9C=)
c.733+9C= (n.733+9C=)
17g.42787551C>GCA1139665589WNK4c.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
17g.42787554delCA2260641949WNK4c.1741+12del (n.1741+12del)
n.421+12del
c.*242+12del (n.*242+12del)
c.733+12del (n.733+12del)
dbSNP
17g.42787553C>TCA2638017131WNK4c.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

Number of alleles fetched