Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
2g.98395927G>ACA347832086CNGA3c.757G>A (p.Val253Met)
c.769G>A (p.Val257Met)
c.703G>A (p.Val235Met)
c.868G>A (p.Val290Met)
c.922G>A (p.Val308Met)
2g.98395927G>CCA347832087CNGA3c.757G>C (p.Val253Leu)
c.769G>C (p.Val257Leu)
c.703G>C (p.Val235Leu)
c.868G>C (p.Val290Leu)
c.922G>C (p.Val308Leu)
2g.98395927G=CA1273419682CNGA3c.757G= (p.Val253=)
c.769G= (p.Val257=)
c.703G= (p.Val235=)
c.868G= (p.Val290=)
c.922G= (p.Val308=)
2g.98395927G>TCA347832088CNGA3c.757G>T (p.Val253Leu)
c.769G>T (p.Val257Leu)
c.703G>T (p.Val235Leu)
c.868G>T (p.Val290Leu)
c.922G>T (p.Val308Leu)
 dbSNP gnomAD v4
2g.98395928T>ACA347832089CNGA3c.758T>A (p.Val253Glu)
c.770T>A (p.Val257Glu)
c.704T>A (p.Val235Glu)
c.869T>A (p.Val290Glu)
c.923T>A (p.Val308Glu)
2g.98395928T>CCA347832090CNGA3c.758T>C (p.Val253Ala)
c.770T>C (p.Val257Ala)
c.704T>C (p.Val235Ala)
c.869T>C (p.Val290Ala)
c.923T>C (p.Val308Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.98395928T>GCA347832091CNGA3c.758T>G (p.Val253Gly)
c.770T>G (p.Val257Gly)
c.704T>G (p.Val235Gly)
c.869T>G (p.Val290Gly)
c.923T>G (p.Val308Gly)
2g.98395928T=CA1273419683CNGA3c.758T= (p.Val253=)
c.770T= (p.Val257=)
c.704T= (p.Val235=)
c.869T= (p.Val290=)
c.923T= (p.Val308=)
2g.98395929G>ACA427568304CNGA3c.759G>A (p.Val253=)
c.771G>A (p.Val257=)
c.705G>A (p.Val235=)
c.870G>A (p.Val290=)
c.924G>A (p.Val308=)
2g.98395929G>CCA427568302CNGA3c.759G>C (p.Val253=)
c.771G>C (p.Val257=)
c.705G>C (p.Val235=)
c.870G>C (p.Val290=)
c.924G>C (p.Val308=)
2g.98395929G>TCA427568300CNGA3c.759G>T (p.Val253=)
c.771G>T (p.Val257=)
c.705G>T (p.Val235=)
c.870G>T (p.Val290=)
c.924G>T (p.Val308=)
2g.98395930T>ACA347832093CNGA3c.760T>A (p.Leu254Met)
c.772T>A (p.Leu258Met)
c.706T>A (p.Leu236Met)
c.871T>A (p.Leu291Met)
c.925T>A (p.Leu309Met)
2g.98395930T>CCA427568307CNGA3c.760T>C (p.Leu254=)
c.772T>C (p.Leu258=)
c.706T>C (p.Leu236=)
c.871T>C (p.Leu291=)
c.925T>C (p.Leu309=)
2g.98395930T>GCA347832092CNGA3c.760T>G (p.Leu254Val)
c.772T>G (p.Leu258Val)
c.706T>G (p.Leu236Val)
c.871T>G (p.Leu291Val)
c.925T>G (p.Leu309Val)
2g.98395931T>ACA347832094CNGA3c.761T>A (p.Leu254Ter)
c.773T>A (p.Leu258Ter)
c.707T>A (p.Leu236Ter)
c.872T>A (p.Leu291Ter)
c.926T>A (p.Leu309Ter)
2g.98395931T>CCA347832096CNGA3c.761T>C (p.Leu254Ser)
c.773T>C (p.Leu258Ser)
c.707T>C (p.Leu236Ser)
c.872T>C (p.Leu291Ser)
c.926T>C (p.Leu309Ser)
2g.98395931T>GCA347832095CNGA3c.761T>G (p.Leu254Trp)
c.773T>G (p.Leu258Trp)
c.707T>G (p.Leu236Trp)
c.872T>G (p.Leu291Trp)
c.926T>G (p.Leu309Trp)
2g.98395932G>ACA427568317CNGA3c.762G>A (p.Leu254=)
c.774G>A (p.Leu258=)
c.708G>A (p.Leu236=)
c.873G>A (p.Leu291=)
c.927G>A (p.Leu309=)
2g.98395932G>CCA347832097CNGA3c.762G>C (p.Leu254Phe)
c.774G>C (p.Leu258Phe)
c.708G>C (p.Leu236Phe)
c.873G>C (p.Leu291Phe)
c.927G>C (p.Leu309Phe)
2g.98395932G>TCA347832098CNGA3c.762G>T (p.Leu254Phe)
c.774G>T (p.Leu258Phe)
c.708G>T (p.Leu236Phe)
c.873G>T (p.Leu291Phe)
c.927G>T (p.Leu309Phe)
2g.98395933T>ACA347832099CNGA3c.763T>A (p.Ser255Thr)
c.775T>A (p.Ser259Thr)
c.709T>A (p.Ser237Thr)
c.874T>A (p.Ser292Thr)
c.928T>A (p.Ser310Thr)
2g.98395933T>CCA347832100CNGA3c.763T>C (p.Ser255Pro)
c.775T>C (p.Ser259Pro)
c.709T>C (p.Ser237Pro)
c.874T>C (p.Ser292Pro)
c.928T>C (p.Ser310Pro)
2g.98395933T>GCA347832101CNGA3c.763T>G (p.Ser255Ala)
c.775T>G (p.Ser259Ala)
c.709T>G (p.Ser237Ala)
c.874T>G (p.Ser292Ala)
c.928T>G (p.Ser310Ala)
2g.98395934C>ACA347832102CNGA3c.764C>A (p.Ser255Tyr)
c.776C>A (p.Ser259Tyr)
c.710C>A (p.Ser237Tyr)
c.875C>A (p.Ser292Tyr)
c.929C>A (p.Ser310Tyr)
2g.98395934C=CA1273419684CNGA3c.764C= (p.Ser255=)
c.776C= (p.Ser259=)
c.710C= (p.Ser237=)
c.875C= (p.Ser292=)
c.929C= (p.Ser310=)
2g.98395934C>GCA347832103CNGA3c.764C>G (p.Ser255Cys)
c.776C>G (p.Ser259Cys)
c.710C>G (p.Ser237Cys)
c.875C>G (p.Ser292Cys)
c.929C>G (p.Ser310Cys)
2g.98395934C>TCA52635206CNGA3c.764C>T (p.Ser255Phe)
c.776C>T (p.Ser259Phe)
c.710C>T (p.Ser237Phe)
c.875C>T (p.Ser292Phe)
c.929C>T (p.Ser310Phe)
 dbSNP
2g.98395935C>ACA427568329CNGA3c.765C>A (p.Ser255=)
c.777C>A (p.Ser259=)
c.711C>A (p.Ser237=)
c.876C>A (p.Ser292=)
c.930C>A (p.Ser310=)
2g.98395935C=CA1273419685CNGA3c.765C= (p.Ser255=)
c.777C= (p.Ser259=)
c.711C= (p.Ser237=)
c.876C= (p.Ser292=)
c.930C= (p.Ser310=)
2g.98395935C>GCA427568332CNGA3c.765C>G (p.Ser255=)
c.777C>G (p.Ser259=)
c.711C>G (p.Ser237=)
c.876C>G (p.Ser292=)
c.930C>G (p.Ser310=)
2g.98395935C>TCA427568330CNGA3c.765C>T (p.Ser255=)
c.777C>T (p.Ser259=)
c.711C>T (p.Ser237=)
c.876C>T (p.Ser292=)
c.930C>T (p.Ser310=)
 dbSNP gnomAD v3 gnomAD v4
2g.98395936C>ACA347832104CNGA3c.766C>A (p.Leu256Met)
c.778C>A (p.Leu260Met)
c.712C>A (p.Leu238Met)
c.877C>A (p.Leu293Met)
c.931C>A (p.Leu311Met)
2g.98395936C=CA1273419686CNGA3c.766C= (p.Leu256=)
c.778C= (p.Leu260=)
c.712C= (p.Leu238=)
c.877C= (p.Leu293=)
c.931C= (p.Leu311=)
2g.98395936C>GCA347832105CNGA3c.766C>G (p.Leu256Val)
c.778C>G (p.Leu260Val)
c.712C>G (p.Leu238Val)
c.877C>G (p.Leu293Val)
c.931C>G (p.Leu311Val)
2g.98395936C>TCA1793887CNGA3c.766C>T (p.Leu256=)
c.778C>T (p.Leu260=)
c.712C>T (p.Leu238=)
c.877C>T (p.Leu293=)
c.931C>T (p.Leu311=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395937T>ACA347832108CNGA3c.767T>A (p.Leu256Gln)
c.779T>A (p.Leu260Gln)
c.713T>A (p.Leu238Gln)
c.878T>A (p.Leu293Gln)
c.932T>A (p.Leu311Gln)
2g.98395937T>CCA347832107CNGA3c.767T>C (p.Leu256Pro)
c.779T>C (p.Leu260Pro)
c.713T>C (p.Leu238Pro)
c.878T>C (p.Leu293Pro)
c.932T>C (p.Leu311Pro)
 ClinVar dbSNP
2g.98395937T>GCA347832106CNGA3c.767T>G (p.Leu256Arg)
c.779T>G (p.Leu260Arg)
c.713T>G (p.Leu238Arg)
c.878T>G (p.Leu293Arg)
c.932T>G (p.Leu311Arg)
2g.98395938G>ACA427568344CNGA3c.768G>A (p.Leu256=)
c.780G>A (p.Leu260=)
c.714G>A (p.Leu238=)
c.879G>A (p.Leu293=)
c.933G>A (p.Leu311=)
2g.98395938G>CCA427568345CNGA3c.768G>C (p.Leu256=)
c.780G>C (p.Leu260=)
c.714G>C (p.Leu238=)
c.879G>C (p.Leu293=)
c.933G>C (p.Leu311=)
 dbSNP gnomAD v4
2g.98395938G=CA1273419687CNGA3c.768G= (p.Leu256=)
c.780G= (p.Leu260=)
c.714G= (p.Leu238=)
c.879G= (p.Leu293=)
c.933G= (p.Leu311=)
2g.98395938G>TCA427568348CNGA3c.768G>T (p.Leu256=)
c.780G>T (p.Leu260=)
c.714G>T (p.Leu238=)
c.879G>T (p.Leu293=)
c.933G>T (p.Leu311=)
2g.98395939G>ACA347832109CNGA3c.769G>A (p.Val257Ile)
c.781G>A (p.Val261Ile)
c.715G>A (p.Val239Ile)
c.880G>A (p.Val294Ile)
c.934G>A (p.Val312Ile)
 gnomAD v4
2g.98395939G>CCA347832110CNGA3c.769G>C (p.Val257Leu)
c.781G>C (p.Val261Leu)
c.715G>C (p.Val239Leu)
c.880G>C (p.Val294Leu)
c.934G>C (p.Val312Leu)
2g.98395939G>TCA347832111CNGA3c.769G>T (p.Val257Phe)
c.781G>T (p.Val261Phe)
c.715G>T (p.Val239Phe)
c.880G>T (p.Val294Phe)
c.934G>T (p.Val312Phe)
2g.98395940T>ACA347832112CNGA3c.770T>A (p.Val257Asp)
c.782T>A (p.Val261Asp)
c.716T>A (p.Val239Asp)
c.881T>A (p.Val294Asp)
c.935T>A (p.Val312Asp)
2g.98395940T>CCA347832113CNGA3c.770T>C (p.Val257Ala)
c.782T>C (p.Val261Ala)
c.716T>C (p.Val239Ala)
c.881T>C (p.Val294Ala)
c.935T>C (p.Val312Ala)
2g.98395940T>GCA347832114CNGA3c.770T>G (p.Val257Gly)
c.782T>G (p.Val261Gly)
c.716T>G (p.Val239Gly)
c.881T>G (p.Val294Gly)
c.935T>G (p.Val312Gly)
2g.98395941C>ACA427568359CNGA3c.771C>A (p.Val257=)
c.783C>A (p.Val261=)
c.717C>A (p.Val239=)
c.882C>A (p.Val294=)
c.936C>A (p.Val312=)

Number of alleles fetched