Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56904402G>ACA8070132SLC12A3c.2864G>A (p.Arg955Gln)
c.2861G>A (p.Arg954Gln)
c.2891G>A (p.Arg964Gln)
c.2888G>A (p.Arg963Gln)
n.295G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904402G>CCA396002234SLC12A3c.2864G>C (p.Arg955Pro)
c.2861G>C (p.Arg954Pro)
c.2891G>C (p.Arg964Pro)
c.2888G>C (p.Arg963Pro)
n.295G>C
16g.56904402G=CA2224365727SLC12A3c.2864G= (p.Arg955=)
c.2861G= (p.Arg954=)
c.2891G= (p.Arg964=)
c.2888G= (p.Arg963=)
n.295G=
16g.56904402G>TCA396002236SLC12A3c.2864G>T (p.Arg955Leu)
c.2861G>T (p.Arg954Leu)
c.2891G>T (p.Arg964Leu)
c.2888G>T (p.Arg963Leu)
n.295G>T
16g.56904404_56904407dupCA2633380547SLC12A3c.2866_2869dup (p.Val957AlafsTer6)
c.2863_2866dup (p.Val956AlafsTer6)
c.2893_2896dup (p.Val966AlafsTer6)
c.2890_2893dup (p.Val965AlafsTer6)
n.297_300dup
gnomAD v4
16g.56904403G>ACA495613550SLC12A3c.2865G>A (p.Arg955=)
c.2862G>A (p.Arg954=)
c.2892G>A (p.Arg964=)
c.2889G>A (p.Arg963=)
n.296G>A
16g.56904403G>CCA495613551SLC12A3c.2865G>C (p.Arg955=)
c.2862G>C (p.Arg954=)
c.2892G>C (p.Arg964=)
c.2889G>C (p.Arg963=)
n.296G>C
16g.56904403G>TCA495613552SLC12A3c.2865G>T (p.Arg955=)
c.2862G>T (p.Arg954=)
c.2892G>T (p.Arg964=)
c.2889G>T (p.Arg963=)
n.296G>T
dbSNP
16g.56904404C>ACA396002240SLC12A3c.2866C>A (p.Gln956Lys)
c.2863C>A (p.Gln955Lys)
c.2893C>A (p.Gln965Lys)
c.2890C>A (p.Gln964Lys)
n.297C>A
16g.56904404C=CA2224365728SLC12A3c.2866C= (p.Gln956=)
c.2863C= (p.Gln955=)
c.2893C= (p.Gln965=)
c.2890C= (p.Gln964=)
n.297C=
16g.56904404C>GCA396002241SLC12A3c.2866C>G (p.Gln956Glu)
c.2863C>G (p.Gln955Glu)
c.2893C>G (p.Gln965Glu)
c.2890C>G (p.Gln964Glu)
n.297C>G
ClinVar
16g.56904404C>TCA8070133SLC12A3c.2866C>T (p.Gln956Ter)
c.2863C>T (p.Gln955Ter)
c.2893C>T (p.Gln965Ter)
c.2890C>T (p.Gln964Ter)
n.297C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56904405A=CA2224365729SLC12A3c.2867A= (p.Gln956=)
c.2864A= (p.Gln955=)
c.2894A= (p.Gln965=)
c.2891A= (p.Gln964=)
n.298A=
16g.56904405A>CCA281521274SLC12A3c.2867A>C (p.Gln956Pro)
c.2864A>C (p.Gln955Pro)
c.2894A>C (p.Gln965Pro)
c.2891A>C (p.Gln964Pro)
n.298A>C
dbSNP gnomAD v3 gnomAD v4
16g.56904405A>GCA396002262SLC12A3c.2867A>G (p.Gln956Arg)
c.2864A>G (p.Gln955Arg)
c.2894A>G (p.Gln965Arg)
c.2891A>G (p.Gln964Arg)
n.298A>G
gnomAD v4 COSMIC
16g.56904405A>TCA396002259SLC12A3c.2867A>T (p.Gln956Leu)
c.2864A>T (p.Gln955Leu)
c.2894A>T (p.Gln965Leu)
c.2891A>T (p.Gln964Leu)
n.298A>T
16g.56904406G>ACA495613553SLC12A3c.2868G>A (p.Gln956=)
c.2865G>A (p.Gln955=)
c.2895G>A (p.Gln965=)
c.2892G>A (p.Gln964=)
n.299G>A
16g.56904406G>CCA396002265SLC12A3c.2868G>C (p.Gln956His)
c.2865G>C (p.Gln955His)
c.2895G>C (p.Gln965His)
c.2892G>C (p.Gln964His)
n.299G>C
16g.56904406G>TCA396002267SLC12A3c.2868G>T (p.Gln956His)
c.2865G>T (p.Gln955His)
c.2895G>T (p.Gln965His)
c.2892G>T (p.Gln964His)
n.299G>T
16g.56904407G>ACA396002268SLC12A3c.2869G>A (p.Val957Met)
c.2866G>A (p.Val956Met)
c.2896G>A (p.Val966Met)
c.2893G>A (p.Val965Met)
n.300G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56904407G>CCA396002269SLC12A3c.2869G>C (p.Val957Leu)
c.2866G>C (p.Val956Leu)
c.2896G>C (p.Val966Leu)
c.2893G>C (p.Val965Leu)
n.300G>C
16g.56904407G=CA2224365730SLC12A3c.2869G= (p.Val957=)
c.2866G= (p.Val956=)
c.2896G= (p.Val966=)
c.2893G= (p.Val965=)
n.300G=
16g.56904407G>TCA396002270SLC12A3c.2869G>T (p.Val957Leu)
c.2866G>T (p.Val956Leu)
c.2896G>T (p.Val966Leu)
c.2893G>T (p.Val965Leu)
n.300G>T
16g.56904408T>ACA396002272SLC12A3c.2870T>A (p.Val957Glu)
c.2867T>A (p.Val956Glu)
c.2897T>A (p.Val966Glu)
c.2894T>A (p.Val965Glu)
n.301T>A
16g.56904408T>CCA396002275SLC12A3c.2870T>C (p.Val957Ala)
c.2867T>C (p.Val956Ala)
c.2897T>C (p.Val966Ala)
c.2894T>C (p.Val965Ala)
n.301T>C
16g.56904408T>GCA8070134SLC12A3c.2870T>G (p.Val957Gly)
c.2867T>G (p.Val956Gly)
c.2897T>G (p.Val966Gly)
c.2894T>G (p.Val965Gly)
n.301T>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56904408T=CA2224365731SLC12A3c.2870T= (p.Val957=)
c.2867T= (p.Val956=)
c.2897T= (p.Val966=)
c.2894T= (p.Val965=)
n.301T=
16g.56904409G>ACA495613554SLC12A3c.2871G>A (p.Val957=)
c.2868G>A (p.Val956=)
c.2898G>A (p.Val966=)
c.2895G>A (p.Val965=)
n.302G>A
gnomAD v4
16g.56904409G>CCA495613555SLC12A3c.2871G>C (p.Val957=)
c.2868G>C (p.Val956=)
c.2898G>C (p.Val966=)
c.2895G>C (p.Val965=)
n.302G>C
16g.56904409G>TCA495613556SLC12A3c.2871G>T (p.Val957=)
c.2868G>T (p.Val956=)
c.2898G>T (p.Val966=)
c.2895G>T (p.Val965=)
n.302G>T
16g.56904410A=CA2224365732SLC12A3c.2872A= (p.Arg958=)
c.2869A= (p.Arg957=)
c.2899A= (p.Arg967=)
c.2896A= (p.Arg966=)
n.303A=
16g.56904410A>CCA495613557SLC12A3c.2872A>C (p.Arg958=)
c.2869A>C (p.Arg957=)
c.2899A>C (p.Arg967=)
c.2896A>C (p.Arg966=)
n.303A>C
gnomAD v4
16g.56904410A>GCA8070135SLC12A3c.2872A>G (p.Arg958Gly)
c.2869A>G (p.Arg957Gly)
c.2899A>G (p.Arg967Gly)
c.2896A>G (p.Arg966Gly)
n.303A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904410A>TCA396002276SLC12A3c.2872A>T (p.Arg958Trp)
c.2869A>T (p.Arg957Trp)
c.2899A>T (p.Arg967Trp)
c.2896A>T (p.Arg966Trp)
n.303A>T
ClinVar dbSNP gnomAD v4
16g.56904411G>ACA396002279SLC12A3c.2873G>A (p.Arg958Lys)
c.2870G>A (p.Arg957Lys)
c.2900G>A (p.Arg967Lys)
c.2897G>A (p.Arg966Lys)
n.304G>A
16g.56904411G>CCA396002280SLC12A3c.2873G>C (p.Arg958Thr)
c.2870G>C (p.Arg957Thr)
c.2900G>C (p.Arg967Thr)
c.2897G>C (p.Arg966Thr)
n.304G>C
16g.56904411G>TCA396002282SLC12A3c.2873G>T (p.Arg958Met)
c.2870G>T (p.Arg957Met)
c.2900G>T (p.Arg967Met)
c.2897G>T (p.Arg966Met)
n.304G>T
16g.56904412delCA2633380608SLC12A3c.2874del (p.Arg958SerfsTer2)
c.2871del (p.Arg957SerfsTer2)
c.2901del (p.Arg967SerfsTer2)
c.2898del (p.Arg966SerfsTer2)
n.305del
gnomAD v4
16g.56904412G>ACA495613558SLC12A3c.2874G>A (p.Arg958=)
c.2871G>A (p.Arg957=)
c.2901G>A (p.Arg967=)
c.2898G>A (p.Arg966=)
n.305G>A
16g.56904412G>CCA396002285SLC12A3c.2874G>C (p.Arg958Ser)
c.2871G>C (p.Arg957Ser)
c.2901G>C (p.Arg967Ser)
c.2898G>C (p.Arg966Ser)
n.305G>C
16g.56904412G>TCA396002287SLC12A3c.2874G>T (p.Arg958Ser)
c.2871G>T (p.Arg957Ser)
c.2901G>T (p.Arg967Ser)
c.2898G>T (p.Arg966Ser)
n.305G>T
16g.56904413C>ACA396002288SLC12A3c.2875C>A (p.Leu959Met)
c.2872C>A (p.Leu958Met)
c.2902C>A (p.Leu968Met)
c.2899C>A (p.Leu967Met)
n.306C>A
16g.56904413C=CA2224365733SLC12A3c.2875C= (p.Leu959=)
c.2872C= (p.Leu958=)
c.2902C= (p.Leu968=)
c.2899C= (p.Leu967=)
n.306C=
16g.56904413C>GCA396002289SLC12A3c.2875C>G (p.Leu959Val)
c.2872C>G (p.Leu958Val)
c.2902C>G (p.Leu968Val)
c.2899C>G (p.Leu967Val)
n.306C>G
16g.56904413C>TCA8070136SLC12A3c.2875C>T (p.Leu959=)
c.2872C>T (p.Leu958=)
c.2902C>T (p.Leu968=)
c.2899C>T (p.Leu967=)
n.306C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904414T>ACA396002292SLC12A3c.2876T>A (p.Leu959Gln)
c.2873T>A (p.Leu958Gln)
c.2903T>A (p.Leu968Gln)
c.2900T>A (p.Leu967Gln)
n.307T>A
16g.56904414T>CCA396002299SLC12A3c.2876T>C (p.Leu959Pro)
c.2873T>C (p.Leu958Pro)
c.2903T>C (p.Leu968Pro)
c.2900T>C (p.Leu967Pro)
n.307T>C
16g.56904414T>GCA396002300SLC12A3c.2876T>G (p.Leu959Arg)
c.2873T>G (p.Leu958Arg)
c.2903T>G (p.Leu968Arg)
c.2900T>G (p.Leu967Arg)
n.307T>G
16g.56904415G>ACA495613559SLC12A3c.2877G>A (p.Leu959=)
c.2874G>A (p.Leu958=)
c.2904G>A (p.Leu968=)
c.2901G>A (p.Leu967=)
n.308G>A
dbSNP gnomAD v2
16g.56904415G>CCA495613560SLC12A3c.2877G>C (p.Leu959=)
c.2874G>C (p.Leu958=)
c.2904G>C (p.Leu968=)
c.2901G>C (p.Leu967=)
n.308G>C

Number of alleles fetched