Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387315A>CCA379770824KCNJ11c.516T>G (p.His172Gln)
c.777T>G (p.His259Gln)
n.935T>G
11g.17387315A>GCA473515425KCNJ11c.516T>C (p.His172=)
c.777T>C (p.His259=)
n.935T>C
gnomAD v4
11g.17387315A>TCA379770825KCNJ11c.516T>A (p.His172Gln)
c.777T>A (p.His259Gln)
n.935T>A
11g.17387316T>ACA379770834KCNJ11c.515A>T (p.His172Leu)
c.776A>T (p.His259Leu)
n.934A>T
11g.17387316T>CCA254522KCNJ11c.515A>G (p.His172Arg)
c.776A>G (p.His259Arg)
n.934A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387316T>GCA379770830KCNJ11c.515A>C (p.His172Pro)
c.776A>C (p.His259Pro)
n.934A>C
11g.17387316T=CA1955119209KCNJ11c.515A= (p.His172=)
c.776A= (p.His259=)
n.934A=
11g.17387317G>ACA379770836KCNJ11c.514C>T (p.His172Tyr)
c.775C>T (p.His259Tyr)
n.933C>T
gnomAD v4
11g.17387317G>CCA379770839KCNJ11c.514C>G (p.His172Asp)
c.775C>G (p.His259Asp)
n.933C>G
11g.17387317G>TCA379770842KCNJ11c.514C>A (p.His172Asn)
c.775C>A (p.His259Asn)
n.933C>A
11g.17387318delCA2695213387KCNJ11c.514del (p.His172MetfsTer?)
c.775del (p.His259MetfsTer?)
n.933del
11g.17387318G>ACA473515429KCNJ11c.513C>T (p.Tyr171=)
c.774C>T (p.Tyr258=)
n.932C>T
11g.17387318G>CCA379770845KCNJ11c.513C>G (p.Tyr171Ter)
c.774C>G (p.Tyr258Ter)
n.932C>G
11g.17387318G=CA1955119210KCNJ11c.513C= (p.Tyr171=)
c.774C= (p.Tyr258=)
n.932C=
11g.17387318G>TCA379770847KCNJ11c.513C>A (p.Tyr171Ter)
c.774C>A (p.Tyr258Ter)
n.932C>A
ClinVar dbSNP
11g.17387319T>ACA379770851KCNJ11c.512A>T (p.Tyr171Phe)
c.773A>T (p.Tyr258Phe)
n.931A>T
11g.17387319T>CCA5902249KCNJ11c.512A>G (p.Tyr171Cys)
c.773A>G (p.Tyr258Cys)
n.931A>G
dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387319T>GCA379770855KCNJ11c.512A>C (p.Tyr171Ser)
c.773A>C (p.Tyr258Ser)
n.931A>C
11g.17387319T=CA1955119211KCNJ11c.512A= (p.Tyr171=)
c.773A= (p.Tyr258=)
n.931A=
11g.17387320A=CA1955119212KCNJ11c.511T= (p.Tyr171=)
c.772T= (p.Tyr258=)
n.930T=
11g.17387320A>CCA379770859KCNJ11c.511T>G (p.Tyr171Asp)
c.772T>G (p.Tyr258Asp)
n.930T>G
11g.17387320A>GCA5902250KCNJ11c.511T>C (p.Tyr171His)
c.772T>C (p.Tyr258His)
n.930T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387320A>TCA379770868KCNJ11c.511T>A (p.Tyr171Asn)
c.772T>A (p.Tyr258Asn)
n.930T>A
11g.17387320dupCA912971887KCNJ11c.511dup (p.Tyr171LeufsTer5)
c.772dup (p.Tyr258LeufsTer5)
n.930dup
11g.17387321G>ACA473515431KCNJ11c.510C>T (p.Ile170=)
c.771C>T (p.Ile257=)
n.929C>T
11g.17387321G>CCA379770871KCNJ11c.510C>G (p.Ile170Met)
c.771C>G (p.Ile257Met)
n.929C>G
gnomAD v4
11g.17387321G>TCA473515434KCNJ11c.510C>A (p.Ile170=)
c.771C>A (p.Ile257=)
n.929C>A
11g.17387321_17387327dupCA658822453KCNJ11c.504_510dup (p.Tyr171AspfsTer7)
c.765_771dup (p.Tyr258AspfsTer7)
n.923_929dup
ClinVar dbSNP
11g.17387322A>CCA379770877KCNJ11c.509T>G (p.Ile170Ser)
c.770T>G (p.Ile257Ser)
n.928T>G
11g.17387322A>GCA379770882KCNJ11c.509T>C (p.Ile170Thr)
c.770T>C (p.Ile257Thr)
n.928T>C
11g.17387322A>TCA379770881KCNJ11c.509T>A (p.Ile170Asn)
c.770T>A (p.Ile257Asn)
n.928T>A
11g.17387323T>ACA379770887KCNJ11c.508A>T (p.Ile170Phe)
c.769A>T (p.Ile257Phe)
n.927A>T
11g.17387323T>CCA379770893KCNJ11c.508A>G (p.Ile170Val)
c.769A>G (p.Ile257Val)
n.927A>G
gnomAD v4
11g.17387323T>GCA379770889KCNJ11c.508A>C (p.Ile170Leu)
c.769A>C (p.Ile257Leu)
n.927A>C
11g.17387324G>ACA473515435KCNJ11c.507C>T (p.Ile169=)
c.768C>T (p.Ile256=)
n.926C>T
dbSNP
11g.17387324G>CCA379770896KCNJ11c.507C>G (p.Ile169Met)
c.768C>G (p.Ile256Met)
n.926C>G
11g.17387324G=CA1955119213KCNJ11c.507C= (p.Ile169=)
c.768C= (p.Ile256=)
n.926C=
11g.17387324G>TCA473515438KCNJ11c.507C>A (p.Ile169=)
c.768C>A (p.Ile256=)
n.926C>A
11g.17387325A>CCA379770900KCNJ11c.506T>G (p.Ile169Ser)
c.767T>G (p.Ile256Ser)
n.925T>G
11g.17387325A>GCA379770902KCNJ11c.506T>C (p.Ile169Thr)
c.767T>C (p.Ile256Thr)
n.925T>C
11g.17387325A>TCA379770904KCNJ11c.506T>A (p.Ile169Asn)
c.767T>A (p.Ile256Asn)
n.925T>A
11g.17387326T>ACA379770909KCNJ11c.505A>T (p.Ile169Phe)
c.766A>T (p.Ile256Phe)
n.924A>T
11g.17387326T>CCA379770911KCNJ11c.505A>G (p.Ile169Val)
c.766A>G (p.Ile256Val)
n.924A>G
11g.17387326T>GCA379770914KCNJ11c.505A>C (p.Ile169Leu)
c.766A>C (p.Ile256Leu)
n.924A>C
11g.17387327C>ACA473515440KCNJ11c.504G>T (p.Leu168=)
c.765G>T (p.Leu255=)
n.923G>T
dbSNP
11g.17387327C=CA1955119214KCNJ11c.504G= (p.Leu168=)
c.765G= (p.Leu255=)
n.923G=
11g.17387327C>GCA473515441KCNJ11c.504G>C (p.Leu168=)
c.765G>C (p.Leu255=)
n.923G>C
11g.17387327C>TCA473515442KCNJ11c.504G>A (p.Leu168=)
c.765G>A (p.Leu255=)
n.923G>A
dbSNP gnomAD v2
11g.17387328A>CCA379770917KCNJ11c.503T>G (p.Leu168Arg)
c.764T>G (p.Leu255Arg)
n.922T>G
11g.17387328A>GCA379770920KCNJ11c.503T>C (p.Leu168Pro)
c.764T>C (p.Leu255Pro)
n.922T>C

Number of alleles fetched