Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42787411C>ACA8584034WNK4c.1610C>A (p.Pro537Gln)
n.290C>A
c.*111C>A (n.*111C>A)
c.602C>A (p.Pro201Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42787411C=CA2260641876WNK4c.1610C= (p.Pro537=)
n.290C=
c.*111C= (n.*111C=)
c.602C= (p.Pro201=)
17g.42787411C>GCA399656869WNK4c.1610C>G (p.Pro537Arg)
n.290C>G
c.*111C>G (n.*111C>G)
c.602C>G (p.Pro201Arg)
gnomAD v4
17g.42787411C>TCA399656871WNK4c.1610C>T (p.Pro537Leu)
n.290C>T
c.*111C>T (n.*111C>T)
c.602C>T (p.Pro201Leu)
17g.42787412A>CCA500225466WNK4c.1611A>C (p.Pro537=)
n.291A>C
c.*112A>C (n.*112A>C)
c.603A>C (p.Pro201=)
17g.42787412A>GCA500225467WNK4c.1611A>G (p.Pro537=)
n.291A>G
c.*112A>G (n.*112A>G)
c.603A>G (p.Pro201=)
17g.42787412A>TCA500225468WNK4c.1611A>T (p.Pro537=)
n.291A>T
c.*112A>T (n.*112A>T)
c.603A>T (p.Pro201=)
17g.42787413G>ACA399656874WNK4c.1612G>A (p.Gly538Arg)
n.292G>A
c.*113G>A (n.*113G>A)
c.604G>A (p.Gly202Arg)
17g.42787413G>CCA399656877WNK4c.1612G>C (p.Gly538Arg)
n.292G>C
c.*113G>C (n.*113G>C)
c.604G>C (p.Gly202Arg)
17g.42787413G>TCA399656882WNK4c.1612G>T (p.Gly538Ter)
n.292G>T
c.*113G>T (n.*113G>T)
c.604G>T (p.Gly202Ter)
17g.42787414G>ACA290785069WNK4c.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
17g.42787414G>CCA399656887WNK4c.1613G>C (p.Gly538Ala)
n.293G>C
c.*114G>C (n.*114G>C)
c.605G>C (p.Gly202Ala)
17g.42787414G=CA2260641877WNK4c.1613G= (p.Gly538=)
n.293G=
c.*114G= (n.*114G=)
c.605G= (p.Gly202=)
17g.42787414G>TCA399656889WNK4c.1613G>T (p.Gly538Val)
n.293G>T
c.*114G>T (n.*114G>T)
c.605G>T (p.Gly202Val)
17g.42787414_42787415delinsGACA2260641878WNK4c.1613_1614delinsGA (p.Gly538=)
n.293_294delinsGA
c.*114_*115delinsGA (n.*114_*115delinsGA)
c.605_606delinsGA (p.Gly202=)
17g.42787415delCA913012326WNK4c.1614del (p.Pro539LeufsTer?)
n.294del
c.*115del (n.*115del)
c.606del (p.Pro203LeufsTer?)
dbSNP gnomAD v4
17g.42787415A>CCA500225474WNK4c.1614A>C (p.Gly538=)
n.294A>C
c.*115A>C (n.*115A>C)
c.606A>C (p.Gly202=)
gnomAD v4
17g.42787415A>GCA500225472WNK4c.1614A>G (p.Gly538=)
n.294A>G
c.*115A>G (n.*115A>G)
c.606A>G (p.Gly202=)
17g.42787415A>TCA500225473WNK4c.1614A>T (p.Gly538=)
n.294A>T
c.*115A>T (n.*115A>T)
c.606A>T (p.Gly202=)
17g.42787416C>ACA399656893WNK4c.1615C>A (p.Pro539Thr)
n.295C>A
c.*116C>A (n.*116C>A)
c.607C>A (p.Pro203Thr)
17g.42787416C=CA2260641879WNK4c.1615C= (p.Pro539=)
n.295C=
c.*116C= (n.*116C=)
c.607C= (p.Pro203=)
17g.42787416C>GCA399656900WNK4c.1615C>G (p.Pro539Ala)
n.295C>G
c.*116C>G (n.*116C>G)
c.607C>G (p.Pro203Ala)
17g.42787416C>TCA8584035WNK4c.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
17g.42787417C>ACA399656904WNK4c.1616C>A (p.Pro539His)
n.296C>A
c.*117C>A (n.*117C>A)
c.608C>A (p.Pro203His)
17g.42787417C=CA2260641880WNK4c.1616C= (p.Pro539=)
n.296C=
c.*117C= (n.*117C=)
c.608C= (p.Pro203=)
17g.42787417C>GCA399656912WNK4c.1616C>G (p.Pro539Arg)
n.296C>G
c.*117C>G (n.*117C>G)
c.608C>G (p.Pro203Arg)
gnomAD v4
17g.42787417C>TCA8584036WNK4c.1616C>T (p.Pro539Leu)
n.296C>T
c.*117C>T (n.*117C>T)
c.608C>T (p.Pro203Leu)
dbSNP ExAC gnomAD v2
17g.42787418T>ACA500225477WNK4c.1617T>A (p.Pro539=)
n.297T>A
c.*118T>A (n.*118T>A)
c.609T>A (p.Pro203=)
17g.42787418T>CCA500225478WNK4c.1617T>C (p.Pro539=)
n.297T>C
c.*118T>C (n.*118T>C)
c.609T>C (p.Pro203=)
17g.42787418T>GCA500225479WNK4c.1617T>G (p.Pro539=)
n.297T>G
c.*118T>G (n.*118T>G)
c.609T>G (p.Pro203=)
17g.42787419C>ACA399656917WNK4c.1618C>A (p.Pro540Thr)
n.298C>A
c.*119C>A (n.*119C>A)
c.610C>A (p.Pro204Thr)
17g.42787419C>GCA399656919WNK4c.1618C>G (p.Pro540Ala)
n.298C>G
c.*119C>G (n.*119C>G)
c.610C>G (p.Pro204Ala)
17g.42787419C>TCA399656922WNK4c.1618C>T (p.Pro540Ser)
n.298C>T
c.*119C>T (n.*119C>T)
c.610C>T (p.Pro204Ser)
17g.42787420C>ACA399656929WNK4c.1619C>A (p.Pro540Gln)
n.299C>A
c.*120C>A (n.*120C>A)
c.611C>A (p.Pro204Gln)
17g.42787420C>GCA399656927WNK4c.1619C>G (p.Pro540Arg)
n.299C>G
c.*120C>G (n.*120C>G)
c.611C>G (p.Pro204Arg)
17g.42787420C>TCA399656925WNK4c.1619C>T (p.Pro540Leu)
n.299C>T
c.*120C>T (n.*120C>T)
c.611C>T (p.Pro204Leu)
17g.42787421A=CA2260641881WNK4c.1620A= (p.Pro540=)
n.300A=
c.*121A= (n.*121A=)
c.612A= (p.Pro204=)
17g.42787421A>CCA500225419WNK4c.1620A>C (p.Pro540=)
n.300A>C
c.*121A>C (n.*121A>C)
c.612A>C (p.Pro204=)
dbSNP
17g.42787421A>GCA500225421WNK4c.1620A>G (p.Pro540=)
n.300A>G
c.*121A>G (n.*121A>G)
c.612A>G (p.Pro204=)
17g.42787421A>TCA500225422WNK4c.1620A>T (p.Pro540=)
n.300A>T
c.*121A>T (n.*121A>T)
c.612A>T (p.Pro204=)
17g.42787422C>ACA399656931WNK4c.1621C>A (p.Pro541Thr)
n.301C>A
c.*122C>A (n.*122C>A)
c.613C>A (p.Pro205Thr)
17g.42787422C=CA2260641882WNK4c.1621C= (p.Pro541=)
n.301C=
c.*122C= (n.*122C=)
c.613C= (p.Pro205=)
17g.42787422C>GCA399656934WNK4c.1621C>G (p.Pro541Ala)
n.301C>G
c.*122C>G (n.*122C>G)
c.613C>G (p.Pro205Ala)
dbSNP
17g.42787422C>TCA399656938WNK4c.1621C>T (p.Pro541Ser)
n.301C>T
c.*122C>T (n.*122C>T)
c.613C>T (p.Pro205Ser)
17g.42787423C>ACA399656943WNK4c.1622C>A (p.Pro541Gln)
n.302C>A
c.*123C>A (n.*123C>A)
c.614C>A (p.Pro205Gln)
17g.42787423C>GCA399656946WNK4c.1622C>G (p.Pro541Arg)
n.302C>G
c.*123C>G (n.*123C>G)
c.614C>G (p.Pro205Arg)
17g.42787423C>TCA399656953WNK4c.1622C>T (p.Pro541Leu)
n.302C>T
c.*123C>T (n.*123C>T)
c.614C>T (p.Pro205Leu)
17g.42787424A=CA2260641883WNK4c.1623A= (p.Pro541=)
n.303A=
c.*124A= (n.*124A=)
c.615A= (p.Pro205=)
17g.42787424A>CCA500225425WNK4c.1623A>C (p.Pro541=)
n.303A>C
c.*124A>C (n.*124A>C)
c.615A>C (p.Pro205=)
17g.42787424A>GCA290785077WNK4c.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
17g.42787424A>TCA500225426WNK4c.1623A>T (p.Pro541=)
n.303A>T
c.*124A>T (n.*124A>T)
c.615A>T (p.Pro205=)
17g.42787425G>ACA399656958WNK4c.1624G>A (p.Ala542Thr)
n.304G>A
c.*125G>A (n.*125G>A)
c.616G>A (p.Ala206Thr)
17g.42787425G>CCA399656968WNK4c.1624G>C (p.Ala542Pro)
n.304G>C
c.*125G>C (n.*125G>C)
c.616G>C (p.Ala206Pro)
17g.42787425G>TCA399656961WNK4c.1624G>T (p.Ala542Ser)
n.304G>T
c.*125G>T (n.*125G>T)
c.616G>T (p.Ala206Ser)
17g.42787426C>ACA399656972WNK4c.1625C>A (p.Ala542Glu)
n.305C>A
c.*126C>A (n.*126C>A)
c.617C>A (p.Ala206Glu)
17g.42787426C>GCA399656975WNK4c.1625C>G (p.Ala542Gly)
n.305C>G
c.*126C>G (n.*126C>G)
c.617C>G (p.Ala206Gly)
17g.42787426C>TCA399656976WNK4c.1625C>T (p.Ala542Val)
n.305C>T
c.*126C>T (n.*126C>T)
c.617C>T (p.Ala206Val)
17g.42787427A>CCA500225434WNK4c.1626A>C (p.Ala542=)
n.306A>C
c.*127A>C (n.*127A>C)
c.618A>C (p.Ala206=)
17g.42787427A>GCA500225430WNK4c.1626A>G (p.Ala542=)
n.306A>G
c.*127A>G (n.*127A>G)
c.618A>G (p.Ala206=)
17g.42787427A>TCA500225432WNK4c.1626A>T (p.Ala542=)
n.306A>T
c.*127A>T (n.*127A>T)
c.618A>T (p.Ala206=)
17g.42787428A=CA2260641884WNK4c.1627A= (p.Thr543=)
n.307A=
c.*128A= (n.*128A=)
c.619A= (p.Thr207=)
17g.42787428A>CCA399656977WNK4c.1627A>C (p.Thr543Pro)
n.307A>C
c.*128A>C (n.*128A>C)
c.619A>C (p.Thr207Pro)
dbSNP gnomAD v3 gnomAD v4
17g.42787428A>GCA399656978WNK4c.1627A>G (p.Thr543Ala)
n.307A>G
c.*128A>G (n.*128A>G)
c.619A>G (p.Thr207Ala)
gnomAD v4
17g.42787428A>TCA399656980WNK4c.1627A>T (p.Thr543Ser)
n.307A>T
c.*128A>T (n.*128A>T)
c.619A>T (p.Thr207Ser)
17g.42787429C>ACA399656981WNK4c.1628C>A (p.Thr543Asn)
n.308C>A
c.*129C>A (n.*129C>A)
c.620C>A (p.Thr207Asn)
17g.42787429C>GCA399656982WNK4c.1628C>G (p.Thr543Ser)
n.308C>G
c.*129C>G (n.*129C>G)
c.620C>G (p.Thr207Ser)
17g.42787429C>TCA399656985WNK4c.1628C>T (p.Thr543Ile)
n.308C>T
c.*129C>T (n.*129C>T)
c.620C>T (p.Thr207Ile)
17g.42787430T>ACA500225437WNK4c.1629T>A (p.Thr543=)
n.309T>A
c.*130T>A (n.*130T>A)
c.621T>A (p.Thr207=)
17g.42787430T>CCA500225439WNK4c.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
17g.42787430T>GCA500225440WNK4c.1629T>G (p.Thr543=)
n.309T>G
c.*130T>G (n.*130T>G)
c.621T>G (p.Thr207=)
17g.42787430T=CA2260641885WNK4c.1629T= (p.Thr543=)
n.309T=
c.*130T= (n.*130T=)
c.621T= (p.Thr207=)
17g.42787432_42787433delCA645572785WNK4c.1631_1632del (p.Val544AlafsTer13)
n.311_312del
c.*132_*133del (n.*132_*133del)
c.623_624del (p.Val208AlafsTer13)
COSMIC COSMIC
17g.42787431G>ACA8584037WNK4c.1630G>A (p.Val544Met)
n.310G>A
c.*131G>A (n.*131G>A)
c.622G>A (p.Val208Met)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42787431G>CCA399656988WNK4c.1630G>C (p.Val544Leu)
n.310G>C
c.*131G>C (n.*131G>C)
c.622G>C (p.Val208Leu)
17g.42787431G=CA2260641886WNK4c.1630G= (p.Val544=)
n.310G=
c.*131G= (n.*131G=)
c.622G= (p.Val208=)
17g.42787431G>TCA399656990WNK4c.1630G>T (p.Val544Leu)
n.310G>T
c.*131G>T (n.*131G>T)
c.622G>T (p.Val208Leu)
17g.42787432T>ACA399656993WNK4c.1631T>A (p.Val544Glu)
n.311T>A
c.*132T>A (n.*132T>A)
c.623T>A (p.Val208Glu)
17g.42787432T>CCA399656995WNK4c.1631T>C (p.Val544Ala)
n.311T>C
c.*132T>C (n.*132T>C)
c.623T>C (p.Val208Ala)
gnomAD v4
17g.42787432T>GCA399656994WNK4c.1631T>G (p.Val544Gly)
n.311T>G
c.*132T>G (n.*132T>G)
c.623T>G (p.Val208Gly)
17g.42787433G>ACA500225442WNK4c.1632G>A (p.Val544=)
n.312G>A
c.*133G>A (n.*133G>A)
c.624G>A (p.Val208=)
gnomAD v4
17g.42787433G>CCA500225444WNK4c.1632G>C (p.Val544=)
n.312G>C
c.*133G>C (n.*133G>C)
c.624G>C (p.Val208=)
17g.42787433G>TCA500225448WNK4c.1632G>T (p.Val544=)
n.312G>T
c.*133G>T (n.*133G>T)
c.624G>T (p.Val208=)
17g.42787434C>ACA399656998WNK4c.1633C>A (p.Pro545Thr)
n.313C>A
c.*134C>A (n.*134C>A)
c.625C>A (p.Pro209Thr)
17g.42787434C>GCA399657001WNK4c.1633C>G (p.Pro545Ala)
n.313C>G
c.*134C>G (n.*134C>G)
c.625C>G (p.Pro209Ala)
17g.42787434C>TCA399657006WNK4c.1633C>T (p.Pro545Ser)
n.313C>T
c.*134C>T (n.*134C>T)
c.625C>T (p.Pro209Ser)
17g.42787435C>ACA399657009WNK4c.1634C>A (p.Pro545His)
n.314C>A
c.*135C>A (n.*135C>A)
c.626C>A (p.Pro209His)
17g.42787435C>GCA399657011WNK4c.1634C>G (p.Pro545Arg)
n.314C>G
c.*135C>G (n.*135C>G)
c.626C>G (p.Pro209Arg)
17g.42787435C>TCA399657016WNK4c.1634C>T (p.Pro545Leu)
n.314C>T
c.*135C>T (n.*135C>T)
c.626C>T (p.Pro209Leu)
17g.42787436C>ACA500225454WNK4c.1635C>A (p.Pro545=)
n.315C>A
c.*136C>A (n.*136C>A)
c.627C>A (p.Pro209=)
17g.42787436C=CA2260641887WNK4c.1635C= (p.Pro545=)
n.315C=
c.*136C= (n.*136C=)
c.627C= (p.Pro209=)
17g.42787436C>GCA500225456WNK4c.1635C>G (p.Pro545=)
n.315C>G
c.*136C>G (n.*136C>G)
c.627C>G (p.Pro209=)
17g.42787436C>TCA500225455WNK4c.1635C>T (p.Pro545=)
n.315C>T
c.*136C>T (n.*136C>T)
c.627C>T (p.Pro209=)
dbSNP gnomAD v3 gnomAD v4
17g.42787437A=CA2260641888WNK4c.1636A= (p.Met546=)
n.316A=
c.*137A= (n.*137A=)
c.628A= (p.Met210=)
17g.42787437A>CCA8584038WNK4c.1636A>C (p.Met546Leu)
n.316A>C
c.*137A>C (n.*137A>C)
c.628A>C (p.Met210Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42787437A>GCA399657022WNK4c.1636A>G (p.Met546Val)
n.316A>G
c.*137A>G (n.*137A>G)
c.628A>G (p.Met210Val)
dbSNP gnomAD v4
17g.42787437A>TCA399657024WNK4c.1636A>T (p.Met546Leu)
n.316A>T
c.*137A>T (n.*137A>T)
c.628A>T (p.Met210Leu)
17g.42787437_42787438insGGGGGGGGGGGGGGGGGGGCA2733784814WNK4c.1636_1637insGGGGGGGGGGGGGGGGGGG (p.Met546ArgfsTer18)
n.316_317insGGGGGGGGGGGGGGGGGGG
c.*137_*138insGGGGGGGGGGGGGGGGGGG (n.*137_*138insGGGGGGGGGGGGGGGGGGG)
c.628_629insGGGGGGGGGGGGGGGGGGG (p.Met210ArgfsTer18)
dbSNP
17g.42787438T>ACA399657025WNK4c.1637T>A (p.Met546Lys)
n.317T>A
c.*138T>A (n.*138T>A)
c.629T>A (p.Met210Lys)
17g.42787438T>CCA399657028WNK4c.1637T>C (p.Met546Thr)
n.317T>C
c.*138T>C (n.*138T>C)
c.629T>C (p.Met210Thr)
17g.42787438T>GCA399657033WNK4c.1637T>G (p.Met546Arg)
n.317T>G
c.*138T>G (n.*138T>G)
c.629T>G (p.Met210Arg)
dbSNP gnomAD v4
17g.42787439G>ACA399657047WNK4c.1638G>A (p.Met546Ile)
n.318G>A
c.*139G>A (n.*139G>A)
c.630G>A (p.Met210Ile)
17g.42787439G>CCA399657038WNK4c.1638G>C (p.Met546Ile)
n.318G>C
c.*139G>C (n.*139G>C)
c.630G>C (p.Met210Ile)
17g.42787439G>TCA399657041WNK4c.1638G>T (p.Met546Ile)
n.318G>T
c.*139G>T (n.*139G>T)
c.630G>T (p.Met210Ile)
17g.42787440_42787441insGGGGGGGGGGGGGCA2733784822WNK4c.1639_1640insGGGGGGGGGGGGG (p.Ala547GlyfsTer15)
n.319_320insGGGGGGGGGGGGG
c.*140_*141insGGGGGGGGGGGGG (n.*140_*141insGGGGGGGGGGGGG)
c.631_632insGGGGGGGGGGGGG (p.Ala211GlyfsTer15)
dbSNP
17g.42787440_42787441insGGGGGGGGGGGGGGGGGGGGGGCA2733784887WNK4c.1639_1640insGGGGGGGGGGGGGGGGGGGGGG (p.Ala547GlyfsTer18)
n.319_320insGGGGGGGGGGGGGGGGGGGGGG
c.*140_*141insGGGGGGGGGGGGGGGGGGGGGG (n.*140_*141insGGGGGGGGGGGGGGGGGGGGGG)
c.631_632insGGGGGGGGGGGGGGGGGGGGGG (p.Ala211GlyfsTer18)
dbSNP
17g.42787439_42787447dupCA2638017042WNK4c.1638_1646dup (p.Gly549_Pro550insAlaProGly)
n.318_326dup
c.*139_*147dup (n.*139_*147dup)
c.630_638dup (p.Gly213_Pro214insAlaProGly)
gnomAD v4
17g.42787440G>ACA399657054WNK4c.1639G>A (p.Ala547Thr)
n.319G>A
c.*140G>A (n.*140G>A)
c.631G>A (p.Ala211Thr)
dbSNP gnomAD v3 gnomAD v4
17g.42787440G>CCA399657056WNK4c.1639G>C (p.Ala547Pro)
n.319G>C
c.*140G>C (n.*140G>C)
c.631G>C (p.Ala211Pro)
17g.42787440G=CA2260641889WNK4c.1639G= (p.Ala547=)
n.319G=
c.*140G= (n.*140G=)
c.631G= (p.Ala211=)
17g.42787440G>TCA399657060WNK4c.1639G>T (p.Ala547Ser)
n.319G>T
c.*140G>T (n.*140G>T)
c.631G>T (p.Ala211Ser)
17g.42787441C>ACA8584040WNK4c.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
17g.42787441C=CA2260641890WNK4c.1640C= (p.Ala547=)
n.320C=
c.*141C= (n.*141C=)
c.632C= (p.Ala211=)
17g.42787441C>GCA399657067WNK4c.1640C>G (p.Ala547Gly)
n.320C>G
c.*141C>G (n.*141C>G)
c.632C>G (p.Ala211Gly)
gnomAD v4
17g.42787441C>TCA8584039WNK4c.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
17g.42787445dupCA2809532571WNK4c.1644dup (p.Gly549ArgfsTer9)
n.324dup
c.*145dup (n.*145dup)
c.636dup (p.Gly213ArgfsTer9)
17g.42787445delCA2638017043WNK4c.1644del (p.Gly549ValfsTer?)
n.324del
c.*145del (n.*145del)
c.636del (p.Gly213ValfsTer?)
gnomAD v4
17g.42787442C>ACA8584042WNK4c.1641C>A (p.Ala547=)
n.321C>A
c.*142C>A (n.*142C>A)
c.633C>A (p.Ala211=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42787442C=CA2260641891WNK4c.1641C= (p.Ala547=)
n.321C=
c.*142C= (n.*142C=)
c.633C= (p.Ala211=)
17g.42787442C>GCA500225465WNK4c.1641C>G (p.Ala547=)
n.321C>G
c.*142C>G (n.*142C>G)
c.633C>G (p.Ala211=)
gnomAD v4
17g.42787442C>TCA8584041WNK4c.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
17g.42787443C>ACA399657080WNK4c.1642C>A (p.Pro548Thr)
n.322C>A
c.*143C>A (n.*143C>A)
c.634C>A (p.Pro212Thr)
17g.42787443C=CA2260641892WNK4c.1642C= (p.Pro548=)
n.322C=
c.*143C= (n.*143C=)
c.634C= (p.Pro212=)
17g.42787443C>GCA8584043WNK4c.1642C>G (p.Pro548Ala)
n.322C>G
c.*143C>G (n.*143C>G)
c.634C>G (p.Pro212Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42787443C>TCA399657084WNK4c.1642C>T (p.Pro548Ser)
n.322C>T
c.*143C>T (n.*143C>T)
c.634C>T (p.Pro212Ser)
dbSNP gnomAD v3 gnomAD v4
17g.42787444C>ACA399657089WNK4c.1643C>A (p.Pro548His)
n.323C>A
c.*144C>A (n.*144C>A)
c.635C>A (p.Pro212His)
17g.42787444C=CA2260641893WNK4c.1643C= (p.Pro548=)
n.323C=
c.*144C= (n.*144C=)
c.635C= (p.Pro212=)
17g.42787444C>GCA399657096WNK4c.1643C>G (p.Pro548Arg)
n.323C>G
c.*144C>G (n.*144C>G)
c.635C>G (p.Pro212Arg)
gnomAD v4
17g.42787444C>TCA399657094WNK4c.1643C>T (p.Pro548Leu)
n.323C>T
c.*144C>T (n.*144C>T)
c.635C>T (p.Pro212Leu)
dbSNP gnomAD v3 gnomAD v4
17g.42787445C>ACA500225475WNK4c.1644C>A (p.Pro548=)
n.324C>A
c.*145C>A (n.*145C>A)
c.636C>A (p.Pro212=)
gnomAD v4
17g.42787445C=CA2260641894WNK4c.1644C= (p.Pro548=)
n.324C=
c.*145C= (n.*145C=)
c.636C= (p.Pro212=)
17g.42787445C>GCA500225476WNK4c.1644C>G (p.Pro548=)
n.324C>G
c.*145C>G (n.*145C>G)
c.636C>G (p.Pro212=)
dbSNP
17g.42787445C>TCA8584044WNK4c.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
17g.42787447_42787448insGGGGCGGCA2638017044WNK4c.1646_1647insGGGGCGG (p.Pro550GlyfsTer10)
n.326_327insGGGGCGG
c.*147_*148insGGGGCGG (n.*147_*148insGGGGCGG)
c.638_639insGGGGCGG (p.Pro214GlyfsTer10)
gnomAD v4
17g.42787446G>ACA8584045WNK4c.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
17g.42787446G>CCA399657104WNK4c.1645G>C (p.Gly549Arg)
n.325G>C
c.*146G>C (n.*146G>C)
c.637G>C (p.Gly213Arg)
dbSNP gnomAD v2 gnomAD v4
17g.42787446G=CA2260641895WNK4c.1645G= (p.Gly549=)
n.325G=
c.*146G= (n.*146G=)
c.637G= (p.Gly213=)
17g.42787446G>TCA399657108WNK4c.1645G>T (p.Gly549Cys)
n.325G>T
c.*146G>T (n.*146G>T)
c.637G>T (p.Gly213Cys)
dbSNP
17g.42787447_42787448insGGGGGCA2809532576WNK4c.1646_1647insGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGG
c.*147_*148insGGGGG (n.*147_*148insGGGGG)
c.638_639insGGGGG (p.Pro214GlyfsTer?)
17g.42787447_42787448insGGGGGGCA2638017092WNK4c.1646_1647insGGGGGG (p.Gly549_Pro550insGlyGly)
n.326_327insGGGGGG
c.*147_*148insGGGGGG (n.*147_*148insGGGGGG)
c.638_639insGGGGGG (p.Gly213_Pro214insGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGCA2638017091WNK4c.1646_1647insGGGGGGG (p.Pro550GlyfsTer10)
n.326_327insGGGGGGG
c.*147_*148insGGGGGGG (n.*147_*148insGGGGGGG)
c.638_639insGGGGGGG (p.Pro214GlyfsTer10)
gnomAD v4
17g.42787447_42787448insGGGGGGGGCA2638017089WNK4c.1646_1647insGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGG
c.*147_*148insGGGGGGGG (n.*147_*148insGGGGGGGG)
c.638_639insGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGCA2638017086WNK4c.1646_1647insGGGGGGGGG (p.Gly549_Pro550insGlyGlyGly)
n.326_327insGGGGGGGGG
c.*147_*148insGGGGGGGGG (n.*147_*148insGGGGGGGGG)
c.638_639insGGGGGGGGG (p.Gly213_Pro214insGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGCA2638017085WNK4c.1646_1647insGGGGGGGGGG (p.Pro550GlyfsTer11)
n.326_327insGGGGGGGGGG
c.*147_*148insGGGGGGGGGG (n.*147_*148insGGGGGGGGGG)
c.638_639insGGGGGGGGGG (p.Pro214GlyfsTer11)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGCA2638017084WNK4c.1646_1647insGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGG)
c.638_639insGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGCA2638017083WNK4c.1646_1647insGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGCA2638017082WNK4c.1646_1647insGGGGGGGGGGGGG (p.Pro550GlyfsTer12)
n.326_327insGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGG (p.Pro214GlyfsTer12)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGCA2638017081WNK4c.1646_1647insGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGCA2638017080WNK4c.1646_1647insGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGCA2638017079WNK4c.1646_1647insGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGCA2638017096WNK4c.1646_1647insGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGTGGGGGGCA2638017073WNK4c.1646_1647insGGGGGGGGGGGTGGGGGG (p.Gly549_Pro550insGlyGlyGlyValGlyGly)
n.326_327insGGGGGGGGGGGTGGGGGG
c.*147_*148insGGGGGGGGGGGTGGGGGG (n.*147_*148insGGGGGGGGGGGTGGGGGG)
c.638_639insGGGGGGGGGGGTGGGGGG (p.Gly213_Pro214insGlyGlyGlyValGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGCA2638017095WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer14)
n.326_327insGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer14)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGCA2638017106WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGCA2638017109WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGly)
dbSNP gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGTGGGGGGGGCA2638017072WNK4c.1646_1647insGGGGGGGGGGGGGGTGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGTGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGTGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGTGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGTGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGCA2638017107WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGCA2638017108WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGCGGGGGGGGGGGGGGGGGGGGCA2638017093WNK4c.1646_1647insGGGCGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGCGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGCGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGCGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGCGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017103WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer16)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer16)
gnomAD v4
17g.42787447_42787448insGGGGGCGGGGGGGGGGGGGGGGGGGGGCA2638017090WNK4c.1646_1647insGGGGGCGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyAlaGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGCGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGCGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGCGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGCGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyAlaGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2809532575WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGly)
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017104WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer17)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer17)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA1139771491WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017102WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGCA2638017088WNK4c.1646_1647insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017101WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer18)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer18)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGCA2638017074WNK4c.1646_1647insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017100WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017099WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017098WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer19)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer19)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017097WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017087WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017076WNK4c.1646_1647insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2809532572WNK4c.1646_1647insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer20)
n.326_327insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer20)
17g.42787447_42787448insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017078WNK4c.1646_1647insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer20)
n.326_327insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer20)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017094WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017063WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer21)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer21)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017077WNK4c.1646_1647insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer21)
n.326_327insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer21)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017061WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA1139532259WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGCA2638017105WNK4c.1646_1647insGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyAlaGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyAlaGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017059WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer22)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer22)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017058WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017057WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017075WNK4c.1646_1647insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer23)
n.326_327insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer23)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017056WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer23)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer23)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017055WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017054WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer24)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer24)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017053WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017052WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017051WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer25)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer25)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017050WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017049WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2809532574WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer26)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer26)
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017064WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017065WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2809532573WNK4c.1646_1647insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer27)
n.326_327insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer27)
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017066WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017067WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017068WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer28)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer28)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017069WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017070WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer29)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer29)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017062WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer29)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer29)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017071WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447G>ACA399657112WNK4c.1646G>A (p.Gly549Asp)
n.326G>A
c.*147G>A (n.*147G>A)
c.638G>A (p.Gly213Asp)
17g.42787447G>CCA399657116WNK4c.1646G>C (p.Gly549Ala)
n.326G>C
c.*147G>C (n.*147G>C)
c.638G>C (p.Gly213Ala)
dbSNP
17g.42787447G=CA2260641896WNK4c.1646G= (p.Gly549=)
n.326G=
c.*147G= (n.*147G=)
c.638G= (p.Gly213=)
17g.42787447G>TCA399657119WNK4c.1646G>T (p.Gly549Val)
n.326G>T
c.*147G>T (n.*147G>T)
c.638G>T (p.Gly213Val)
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCA2638017110WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG (p.Pro550GlyfsTer?)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787447_42787448insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCA2638017111WNK4c.1646_1647insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG (p.Pro550GlyfsTer22)
n.326_327insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG
c.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG (n.*147_*148insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG)
c.638_639insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG (p.Pro214GlyfsTer22)
gnomAD v4
17g.42787448T>ACA500225483WNK4c.1647T>A (p.Gly549=)
n.327T>A
c.*148T>A (n.*148T>A)
c.639T>A (p.Gly213=)
17g.42787448T>CCA500225485WNK4c.1647T>C (p.Gly549=)
n.327T>C
c.*148T>C (n.*148T>C)
c.639T>C (p.Gly213=)
dbSNP
17g.42787448T>GCA500225484WNK4c.1647T>G (p.Gly549=)
n.327T>G
c.*148T>G (n.*148T>G)
c.639T>G (p.Gly213=)
gnomAD v3 gnomAD v4
17g.42787448T=CA2260641897WNK4c.1647T= (p.Gly549=)
n.327T=
c.*148T= (n.*148T=)
c.639T= (p.Gly213=)
17g.42787448_42787455delCA2638017112WNK4c.1647_1654del (p.Pro550CysfsTer5)
n.327_334del
c.*148_*155del (n.*148_*155del)
c.639_646del (p.Pro214CysfsTer5)
gnomAD v4
17g.42787448_42787449insGGGGCA2638017119WNK4c.1647_1648insGGGG (p.Pro550GlyfsTer9)
n.327_328insGGGG
c.*148_*149insGGGG (n.*148_*149insGGGG)
c.639_640insGGGG (p.Pro214GlyfsTer9)
gnomAD v4
17g.42787448_42787449insGGGGGCA2638017118WNK4c.1647_1648insGGGGG (p.Pro550GlyfsTer?)
n.327_328insGGGGG
c.*148_*149insGGGGG (n.*148_*149insGGGGG)
c.639_640insGGGGG (p.Pro214GlyfsTer?)
gnomAD v4
17g.42787448_42787449insGGGGGGGGGGGGGGGGGGCA2809532578WNK4c.1647_1648insGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGly)
n.327_328insGGGGGGGGGGGGGGGGGG
c.*148_*149insGGGGGGGGGGGGGGGGGG (n.*148_*149insGGGGGGGGGGGGGGGGGG)
c.639_640insGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGly)
17g.42787448_42787449insGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017117WNK4c.1647_1648insGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer16)
n.327_328insGGGGGGGGGGGGGGGGGGGGGGGGG
c.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGG)
c.639_640insGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer16)
gnomAD v4
17g.42787448_42787449insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017113WNK4c.1647_1648insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly549_Pro550insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.327_328insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.639_640insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Gly213_Pro214insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly)
gnomAD v4
17g.42787448_42787449insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017115WNK4c.1647_1648insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer21)
n.327_328insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.639_640insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer21)
gnomAD v4
17g.42787448_42787449insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGCA2638017116WNK4c.1647_1648insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGG (p.Pro550GlyfsTer21)
n.327_328insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGG
c.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGG (n.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGG)
c.639_640insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGG (p.Pro214GlyfsTer21)
gnomAD v4
17g.42787448_42787449insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2638017114WNK4c.1647_1648insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro550GlyfsTer22)
n.327_328insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*148_*149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.639_640insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Pro214GlyfsTer22)
gnomAD v4
17g.42787449C>ACA399657122WNK4c.1648C>A (p.Pro550Thr)
n.328C>A
c.*149C>A (n.*149C>A)
c.640C>A (p.Pro214Thr)
17g.42787449C=CA2260641898WNK4c.1648C= (p.Pro550=)
n.328C=
c.*149C= (n.*149C=)
c.640C= (p.Pro214=)
17g.42787449C>GCA399657128WNK4c.1648C>G (p.Pro550Ala)
n.328C>G
c.*149C>G (n.*149C>G)
c.640C>G (p.Pro214Ala)
gnomAD v4
17g.42787449C>TCA399657130WNK4c.1648C>T (p.Pro550Ser)
n.328C>T
c.*149C>T (n.*149C>T)
c.640C>T (p.Pro214Ser)
dbSNP gnomAD v2 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.42787450C>ACA399657133WNK4c.1649C>A (p.Pro550His)
n.329C>A
c.*150C>A (n.*150C>A)
c.641C>A (p.Pro214His)
17g.42787450C>GCA399657135WNK4c.1649C>G (p.Pro550Arg)
n.329C>G
c.*150C>G (n.*150C>G)
c.641C>G (p.Pro214Arg)
gnomAD v4
17g.42787450C>TCA399657139WNK4c.1649C>T (p.Pro550Leu)
n.329C>T
c.*150C>T (n.*150C>T)
c.641C>T (p.Pro214Leu)
17g.42787451C>ACA500225489WNK4c.1650C>A (p.Pro550=)
n.330C>A
c.*151C>A (n.*151C>A)
c.642C>A (p.Pro214=)
17g.42787451C>GCA500225487WNK4c.1650C>G (p.Pro550=)
n.330C>G
c.*151C>G (n.*151C>G)
c.642C>G (p.Pro214=)
17g.42787451C>TCA500225488WNK4c.1650C>T (p.Pro550=)
n.330C>T
c.*151C>T (n.*151C>T)
c.642C>T (p.Pro214=)
17g.42787452C>ACA399657168WNK4c.1651C>A (p.Pro551Thr)
n.331C>A
c.*152C>A (n.*152C>A)
c.643C>A (p.Pro215Thr)
17g.42787452C>GCA399657159WNK4c.1651C>G (p.Pro551Ala)
n.331C>G
c.*152C>G (n.*152C>G)
c.643C>G (p.Pro215Ala)
17g.42787452C>TCA399657144WNK4c.1651C>T (p.Pro551Ser)
n.331C>T
c.*152C>T (n.*152C>T)
c.643C>T (p.Pro215Ser)
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=)

Number of alleles fetched