Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.89222511C>ACA377516636LIPAc.894G>T (p.Gln298His)
c.726G>T (p.Gln242His)
c.546G>T (p.Gln182His)
10g.89222511C=CA1926733112LIPAc.894G= (p.Gln298=)
c.726G= (p.Gln242=)
c.546G= (p.Gln182=)
10g.89222511C>GCA377516637LIPAc.894G>C (p.Gln298His)
c.726G>C (p.Gln242His)
c.546G>C (p.Gln182His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.89222511C>TCA346907LIPAc.894G>A (p.Gln298=)
c.726G>A (p.Gln242=)
c.546G>A (p.Gln182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.89222512T>ACA377516638LIPAc.893A>T (p.Gln298Leu)
c.725A>T (p.Gln242Leu)
c.545A>T (p.Gln182Leu)
10g.89222512T>CCA377516640LIPAc.893A>G (p.Gln298Arg)
c.725A>G (p.Gln242Arg)
c.545A>G (p.Gln182Arg)
 gnomAD v4
10g.89222512T>GCA377516639LIPAc.893A>C (p.Gln298Pro)
c.725A>C (p.Gln242Pro)
c.545A>C (p.Gln182Pro)
10g.89222513G>ACA377516641LIPAc.892C>T (p.Gln298Ter)
c.724C>T (p.Gln242Ter)
c.544C>T (p.Gln182Ter)
 ClinVar dbSNP gnomAD v4
10g.89222513G>CCA377516642LIPAc.892C>G (p.Gln298Glu)
c.724C>G (p.Gln242Glu)
c.544C>G (p.Gln182Glu)
10g.89222513G=CA1926733113LIPAc.892C= (p.Gln298=)
c.724C= (p.Gln242=)
c.544C= (p.Gln182=)
10g.89222513G>TCA377516643LIPAc.892C>A (p.Gln298Lys)
c.724C>A (p.Gln242Lys)
c.544C>A (p.Gln182Lys)
 gnomAD v4
10g.89222514delCA2574605638LIPAc.892del (p.Gln298ArgfsTer?)
c.724del (p.Gln242ArgfsTer?)
c.544del (p.Gln182ArgfsTer?)
 ClinVar
10g.89222514G>ACA5593582LIPAc.891C>T (p.Ser297=)
c.723C>T (p.Ser241=)
c.543C>T (p.Ser181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.89222514G>CCA377516644LIPAc.891C>G (p.Ser297Arg)
c.723C>G (p.Ser241Arg)
c.543C>G (p.Ser181Arg)
10g.89222514G=CA1926733114LIPAc.891C= (p.Ser297=)
c.723C= (p.Ser241=)
c.543C= (p.Ser181=)
10g.89222514G>TCA377516645LIPAc.891C>A (p.Ser297Arg)
c.723C>A (p.Ser241Arg)
c.543C>A (p.Ser181Arg)
 gnomAD v4
10g.89222515C>ACA377516646LIPAc.890G>T (p.Ser297Ile)
c.722G>T (p.Ser241Ile)
c.542G>T (p.Ser181Ile)
 gnomAD v4
10g.89222515C>GCA377516647LIPAc.890G>C (p.Ser297Thr)
c.722G>C (p.Ser241Thr)
c.542G>C (p.Ser181Thr)
10g.89222515C>TCA377516648LIPAc.890G>A (p.Ser297Asn)
c.722G>A (p.Ser241Asn)
c.542G>A (p.Ser181Asn)
10g.89222515dupCA2580082246LIPAc.890dup (p.Ser297ArgfsTer5)
c.722dup (p.Ser241ArgfsTer5)
c.542dup (p.Ser181ArgfsTer5)
 ClinVar gnomAD v4
10g.89222516T>ACA5593583LIPAc.889A>T (p.Ser297Cys)
c.721A>T (p.Ser241Cys)
c.541A>T (p.Ser181Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.89222516T>CCA247503LIPAc.889A>G (p.Ser297Gly)
c.721A>G (p.Ser241Gly)
c.541A>G (p.Ser181Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.89222516T>GCA377516649LIPAc.889A>C (p.Ser297Arg)
c.721A>C (p.Ser241Arg)
c.541A>C (p.Ser181Arg)
10g.89222516T=CA1926733115LIPAc.889A= (p.Ser297=)
c.721A= (p.Ser241=)
c.541A= (p.Ser181=)
10g.89222517C>ACA377516650LIPAc.888G>T (p.Trp296Cys)
c.720G>T (p.Trp240Cys)
c.540G>T (p.Trp180Cys)
10g.89222517C=CA1926733116LIPAc.888G= (p.Trp296=)
c.720G= (p.Trp240=)
c.540G= (p.Trp180=)
10g.89222517C>GCA377516652LIPAc.888G>C (p.Trp296Cys)
c.720G>C (p.Trp240Cys)
c.540G>C (p.Trp180Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.89222517C>TCA377516651LIPAc.888G>A (p.Trp296Ter)
c.720G>A (p.Trp240Ter)
c.540G>A (p.Trp180Ter)
10g.89222518C>ACA377516653LIPAc.887G>T (p.Trp296Leu)
c.719G>T (p.Trp240Leu)
c.539G>T (p.Trp180Leu)
10g.89222518C>GCA377516654LIPAc.887G>C (p.Trp296Ser)
c.719G>C (p.Trp240Ser)
c.539G>C (p.Trp180Ser)
10g.89222518C>TCA377516655LIPAc.887G>A (p.Trp296Ter)
c.719G>A (p.Trp240Ter)
c.539G>A (p.Trp180Ter)
 gnomAD v4
10g.89222519A>CCA377516656LIPAc.886T>G (p.Trp296Gly)
c.718T>G (p.Trp240Gly)
c.538T>G (p.Trp180Gly)
10g.89222519A>GCA377516657LIPAc.886T>C (p.Trp296Arg)
c.718T>C (p.Trp240Arg)
c.538T>C (p.Trp180Arg)
10g.89222519A>TCA377516658LIPAc.886T>A (p.Trp296Arg)
c.718T>A (p.Trp240Arg)
c.538T>A (p.Trp180Arg)
10g.89222520G>ACA10606471LIPAc.885C>T (p.His295=)
c.717C>T (p.His239=)
c.537C>T (p.His179=)
 ClinVar dbSNP gnomAD v4
10g.89222520G>CCA377516659LIPAc.885C>G (p.His295Gln)
c.717C>G (p.His239Gln)
c.537C>G (p.His179Gln)
10g.89222520G=CA1926733117LIPAc.885C= (p.His295=)
c.717C= (p.His239=)
c.537C= (p.His179=)
10g.89222520G>TCA377516660LIPAc.885C>A (p.His295Gln)
c.717C>A (p.His239Gln)
c.537C>A (p.His179Gln)
 gnomAD v4
10g.89222521T>ACA377516663LIPAc.884A>T (p.His295Leu)
c.716A>T (p.His239Leu)
c.536A>T (p.His179Leu)
10g.89222521T>CCA377516662LIPAc.884A>G (p.His295Arg)
c.716A>G (p.His239Arg)
c.536A>G (p.His179Arg)
10g.89222521T>GCA377516661LIPAc.884A>C (p.His295Pro)
c.716A>C (p.His239Pro)
c.536A>C (p.His179Pro)
 ClinVar gnomAD v4
10g.89222522G>ACA377516664LIPAc.883C>T (p.His295Tyr)
c.715C>T (p.His239Tyr)
c.535C>T (p.His179Tyr)
 ClinVar dbSNP gnomAD v4
10g.89222522G>CCA377516665LIPAc.883C>G (p.His295Asp)
c.715C>G (p.His239Asp)
c.535C>G (p.His179Asp)
10g.89222522G=CA1926733118LIPAc.883C= (p.His295=)
c.715C= (p.His239=)
c.535C= (p.His179=)
10g.89222522G>TCA377516666LIPAc.883C>A (p.His295Asn)
c.715C>A (p.His239Asn)
c.535C>A (p.His179Asn)
 gnomAD v4
10g.89222523T>ACA377516667LIPAc.882A>T (p.Leu294Phe)
c.714A>T (p.Leu238Phe)
c.534A>T (p.Leu178Phe)
10g.89222523T>CCA470737545LIPAc.882A>G (p.Leu294=)
c.714A>G (p.Leu238=)
c.534A>G (p.Leu178=)
 gnomAD v4
10g.89222523T>GCA377516668LIPAc.882A>C (p.Leu294Phe)
c.714A>C (p.Leu238Phe)
c.534A>C (p.Leu178Phe)
10g.89222524A=CA1926733119LIPAc.881T= (p.Leu294=)
c.713T= (p.Leu238=)
c.533T= (p.Leu178=)
10g.89222524A>CCA377516669LIPAc.881T>G (p.Leu294Ter)
c.713T>G (p.Leu238Ter)
c.533T>G (p.Leu178Ter)

Number of alleles fetched