Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.78997252_78997263delinsGTGTTTTCCTCTCA2277259565CANT1c.360_371delinsAGAGGAAAACAC (p.Gln120=)
c.199_210delinsAGAGGAAAACAC (p.Arg67=)
n.804_815delinsAGAGGAAAACAC
17g.78997255_78997265delCA2277259566CANT1c.360_370del (p.Gln120HisfsTer?)
c.199_209del (p.Arg67ProfsTer6)
n.804_814del
 dbSNP
17g.78997257T>ACA401308709CANT1c.366A>T (p.Glu122Asp)
c.205A>T (p.Lys69Ter)
n.810A>T
17g.78997257T>CCA401308710CANT1c.366A>G (p.Glu122=)
c.205A>G (p.Lys69Glu)
n.810A>G
17g.78997257T>GCA401308711CANT1c.366A>C (p.Glu122Asp)
c.205A>C (p.Lys69Gln)
n.810A>C
17g.78997258T>ACA401308713CANT1c.365A>T (p.Glu122Val)
c.204A>T (p.Gly68=)
n.809A>T
17g.78997258T>CCA8808743CANT1c.365A>G (p.Glu122Gly)
c.204A>G (p.Gly68=)
n.809A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997258T>GCA401308712CANT1c.365A>C (p.Glu122Ala)
c.204A>C (p.Gly68=)
n.809A>C
17g.78997258T=CA2277259569CANT1c.365A= (p.Glu122=)
c.204A= (p.Gly68=)
n.809A=
17g.78997259C>ACA401308716CANT1c.364G>T (p.Glu122Ter)
c.203G>T (p.Gly68Val)
n.808G>T
17g.78997259C>GCA401308714CANT1c.364G>C (p.Glu122Gln)
c.203G>C (p.Gly68Ala)
n.808G>C
17g.78997259C>TCA401308715CANT1c.364G>A (p.Glu122Lys)
c.203G>A (p.Gly68Glu)
n.808G>A
 gnomAD v4 COSMIC
17g.78997260C>ACA401308717CANT1c.363G>T (p.Glu121Asp)
c.202G>T (p.Gly68Ter)
n.807G>T
17g.78997260C>GCA401308718CANT1c.363G>C (p.Glu121Asp)
c.202G>C (p.Gly68Arg)
n.807G>C
17g.78997260C>TCA401308719CANT1c.363G>A (p.Glu121=)
c.202G>A (p.Gly68Arg)
n.807G>A
 ClinVar gnomAD v4
17g.78997261T>ACA401308722CANT1c.362A>T (p.Glu121Val)
c.201A>T (p.Arg67Ser)
n.806A>T
17g.78997261T>CCA401308721CANT1c.362A>G (p.Glu121Gly)
c.201A>G (p.Arg67=)
n.806A>G
 gnomAD v4
17g.78997261T>GCA401308720CANT1c.362A>C (p.Glu121Ala)
c.201A>C (p.Arg67Ser)
n.806A>C
17g.78997262C>ACA401308723CANT1c.361G>T (p.Glu121Ter)
c.200G>T (p.Arg67Ile)
n.805G>T
17g.78997262C>GCA401308724CANT1c.361G>C (p.Glu121Gln)
c.200G>C (p.Arg67Thr)
n.805G>C
17g.78997262C>TCA401308725CANT1c.361G>A (p.Glu121Lys)
c.200G>A (p.Arg67Lys)
n.805G>A
17g.78997263T>ACA401308726CANT1c.360A>T (p.Gln120His)
c.199A>T (p.Arg67Ter)
n.804A>T
17g.78997263T>CCA401308727CANT1c.360A>G (p.Gln120=)
c.199A>G (p.Arg67Gly)
n.804A>G
 ClinVar
17g.78997263T>GCA401308728CANT1c.360A>C (p.Gln120His)
c.199A>C (p.Arg67=)
n.804A>C
17g.78997264T>ACA401308731CANT1c.359A>T (p.Gln120Leu)
c.198A>T (p.Pro66=)
n.803A>T
17g.78997264T>CCA401308729CANT1c.359A>G (p.Gln120Arg)
c.198A>G (p.Pro66=)
n.803A>G
17g.78997264T>GCA401308730CANT1c.359A>C (p.Gln120Pro)
c.198A>C (p.Pro66=)
n.803A>C
 gnomAD v4
17g.78997265G>ACA401308732CANT1c.358C>T (p.Gln120Ter)
c.197C>T (p.Pro66Leu)
n.802C>T
17g.78997265G>CCA8808744CANT1c.358C>G (p.Gln120Glu)
c.197C>G (p.Pro66Arg)
n.802C>G
 dbSNP ExAC gnomAD v2
17g.78997265G=CA2277259570CANT1c.358C= (p.Gln120=)
c.197C= (p.Pro66=)
n.802C=
17g.78997265G>TCA401308733CANT1c.358C>A (p.Gln120Lys)
c.197C>A (p.Pro66Gln)
n.802C>A
17g.78997267delCA2695227049CANT1c.358del (p.Gln120LysfsTer10)
c.197del (p.Pro66GlnfsTer?)
n.802del
17g.78997266G>ACA401308734CANT1c.357C>T (p.Ala119=)
c.196C>T (p.Pro66Ser)
n.801C>T
17g.78997266G>CCA401308735CANT1c.357C>G (p.Ala119=)
c.196C>G (p.Pro66Ala)
n.801C>G
17g.78997266G>TCA401308736CANT1c.357C>A (p.Ala119=)
c.196C>A (p.Pro66Thr)
n.801C>A
17g.78997267G>ACA401308737CANT1c.356C>T (p.Ala119Val)
c.195C>T (p.Gly65=)
n.800C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.78997267G>CCA401308738CANT1c.356C>G (p.Ala119Gly)
c.195C>G (p.Gly65=)
n.800C>G
17g.78997267G=CA2277259571CANT1c.356C= (p.Ala119=)
c.195C= (p.Gly65=)
n.800C=
17g.78997267G>TCA401308739CANT1c.356C>A (p.Ala119Asp)
c.195C>A (p.Gly65=)
n.800C>A
17g.78997268C>ACA401308740CANT1c.355G>T (p.Ala119Ser)
c.194G>T (p.Gly65Val)
n.799G>T
17g.78997268C>GCA401308741CANT1c.355G>C (p.Ala119Pro)
c.194G>C (p.Gly65Ala)
n.799G>C
17g.78997268C>TCA401308742CANT1c.355G>A (p.Ala119Thr)
c.194G>A (p.Gly65Asp)
n.799G>A
17g.78997269C>ACA401308743CANT1c.354G>T (p.Arg118Ser)
c.193G>T (p.Gly65Cys)
n.798G>T
17g.78997269C>GCA401308745CANT1c.354G>C (p.Arg118Ser)
c.193G>C (p.Gly65Arg)
n.798G>C
17g.78997269C>TCA401308744CANT1c.354G>A (p.Arg118=)
c.193G>A (p.Gly65Ser)
n.798G>A
17g.78997270C>ACA401308746CANT1c.353G>T (p.Arg118Met)
c.192G>T (p.Lys64Asn)
n.797G>T
17g.78997270C>GCA401308747CANT1c.353G>C (p.Arg118Thr)
c.192G>C (p.Lys64Asn)
n.797G>C
17g.78997270C>TCA401308748CANT1c.353G>A (p.Arg118Lys)
c.192G>A (p.Lys64=)
n.797G>A
17g.78997271T>ACA401308749CANT1c.352A>T (p.Arg118Trp)
c.191A>T (p.Lys64Met)
n.796A>T
17g.78997271T>CCA8808745CANT1c.352A>G (p.Arg118Gly)
c.191A>G (p.Lys64Arg)
n.796A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997271T>GCA401308750CANT1c.352A>C (p.Arg118=)
c.191A>C (p.Lys64Thr)
n.796A>C
 gnomAD v4
17g.78997271T=CA2277259572CANT1c.352A= (p.Arg118=)
c.191A= (p.Lys64=)
n.796A=
17g.78997272T>ACA401308751CANT1c.351A>T (p.Ser117=)
c.190A>T (p.Lys64Ter)
n.795A>T
17g.78997272T>CCA401308752CANT1c.351A>G (p.Ser117=)
c.190A>G (p.Lys64Glu)
n.795A>G
17g.78997272T>GCA401308753CANT1c.351A>C (p.Ser117=)
c.190A>C (p.Lys64Gln)
n.795A>C
17g.78997273G>ACA401308754CANT1c.350C>T (p.Ser117Leu)
c.189C>T (p.Val63=)
n.794C>T
17g.78997273G>CCA401308755CANT1c.350C>G (p.Ser117Ter)
c.189C>G (p.Val63=)
n.794C>G
17g.78997273G>TCA401308756CANT1c.350C>A (p.Ser117Ter)
c.189C>A (p.Val63=)
n.794C>A
17g.78997274A=CA2277259574CANT1c.349T= (p.Ser117=)
c.188T= (p.Val63=)
n.793T=
17g.78997274A>CCA401308758CANT1c.349T>G (p.Ser117Ala)
c.188T>G (p.Val63Gly)
n.793T>G
17g.78997274A>GCA8808746CANT1c.349T>C (p.Ser117Pro)
c.188T>C (p.Val63Ala)
n.793T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997274A>TCA401308757CANT1c.349T>A (p.Ser117Thr)
c.188T>A (p.Val63Asp)
n.793T>A
17g.78997274_78997276delinsACTCA2277259573CANT1c.347_349delinsAGT (p.Glu116=)
c.186_188delinsAGT (p.Arg62=)
n.791_793delinsAGT
17g.78997275C>ACA401308759CANT1c.348G>T (p.Glu116Asp)
c.187G>T (p.Val63Phe)
n.792G>T
 gnomAD v4
17g.78997275C>GCA401308760CANT1c.348G>C (p.Glu116Asp)
c.187G>C (p.Val63Leu)
n.792G>C
17g.78997275C>TCA401308761CANT1c.348G>A (p.Glu116=)
c.187G>A (p.Val63Ile)
n.792G>A
17g.78997277_78997278delCA8808747CANT1c.347_348del (p.Glu116ValfsTer?)
c.186_187del (p.Arg62SerfsTer14)
n.791_792del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997276T>ACA401308762CANT1c.347A>T (p.Glu116Val)
c.186A>T (p.Arg62Ser)
n.791A>T
 gnomAD v4
17g.78997276T>CCA401308763CANT1c.347A>G (p.Glu116Gly)
c.186A>G (p.Arg62=)
n.791A>G
17g.78997276T>GCA401308764CANT1c.347A>C (p.Glu116Ala)
c.186A>C (p.Arg62Ser)
n.791A>C
17g.78997277C>ACA401308765CANT1c.346G>T (p.Glu116Ter)
c.185G>T (p.Arg62Ile)
n.790G>T
 gnomAD v4
17g.78997277C=CA2277259575CANT1c.346G= (p.Glu116=)
c.185G= (p.Arg62=)
n.790G=
17g.78997277C>GCA401308766CANT1c.346G>C (p.Glu116Gln)
c.185G>C (p.Arg62Thr)
n.790G>C
 dbSNP gnomAD v2 gnomAD v4
17g.78997277C>TCA401308767CANT1c.346G>A (p.Glu116Lys)
c.185G>A (p.Arg62Lys)
n.790G>A
 COSMIC
17g.78997278T>ACA401308768CANT1c.345A>T (p.Thr115=)
c.184A>T (p.Arg62Ter)
n.789A>T
17g.78997278T>CCA401308769CANT1c.345A>G (p.Thr115=)
c.184A>G (p.Arg62Gly)
n.789A>G
 dbSNP gnomAD v3 gnomAD v4
17g.78997278T>GCA502397542CANT1c.345A>C (p.Thr115=)
c.184A>C (p.Arg62=)
n.789A>C
17g.78997278T=CA2277259576CANT1c.345A= (p.Thr115=)
c.184A= (p.Arg62=)
n.789A=
17g.78997281_78997282delCA2640216336CANT1c.344_345del (p.Thr115ArgfsTer?)
c.183_184del (p.His61GlnfsTer15)
n.788_789del
 gnomAD v4
17g.78997279G>ACA401308771CANT1c.344C>T (p.Thr115Ile)
c.183C>T (p.His61=)
n.788C>T
17g.78997279G>CCA401308772CANT1c.344C>G (p.Thr115Arg)
c.183C>G (p.His61Gln)
n.788C>G
17g.78997279G>TCA401308770CANT1c.344C>A (p.Thr115Lys)
c.183C>A (p.His61Gln)
n.788C>A
17g.78997280T>ACA401308775CANT1c.343A>T (p.Thr115Ser)
c.182A>T (p.His61Leu)
n.787A>T
17g.78997280T>CCA401308773CANT1c.343A>G (p.Thr115Ala)
c.182A>G (p.His61Arg)
n.787A>G
 dbSNP gnomAD v4
17g.78997280T>GCA401308774CANT1c.343A>C (p.Thr115Pro)
c.182A>C (p.His61Pro)
n.787A>C
17g.78997280T=CA2277259577CANT1c.343A= (p.Thr115=)
c.182A= (p.His61=)
n.787A=
17g.78997281G>ACA401308776CANT1c.342C>T (p.Asp114=)
c.181C>T (p.His61Tyr)
n.786C>T
17g.78997281G>CCA401308777CANT1c.342C>G (p.Asp114Glu)
c.181C>G (p.His61Asp)
n.786C>G
17g.78997281G>TCA401308778CANT1c.342C>A (p.Asp114Glu)
c.181C>A (p.His61Asn)
n.786C>A
17g.78997282T>ACA401308781CANT1c.341A>T (p.Asp114Val)
c.180A>T (p.Gly60=)
n.785A>T
17g.78997282T>CCA401308780CANT1c.341A>G (p.Asp114Gly)
c.180A>G (p.Gly60=)
n.785A>G
17g.78997282T>GCA401308779CANT1c.341A>C (p.Asp114Ala)
c.180A>C (p.Gly60=)
n.785A>C
 gnomAD v4
17g.78997283C>ACA401308782CANT1c.340G>T (p.Asp114Tyr)
c.179G>T (p.Gly60Val)
n.784G>T
17g.78997283C>GCA401308783CANT1c.340G>C (p.Asp114His)
c.179G>C (p.Gly60Ala)
n.784G>C
17g.78997283C>TCA401308784CANT1c.340G>A (p.Asp114Asn)
c.179G>A (p.Gly60Glu)
n.784G>A
17g.78997284C>ACA401308785CANT1c.339G>T (p.Leu113=)
c.178G>T (p.Gly60Ter)
n.783G>T
17g.78997284C>GCA401308786CANT1c.339G>C (p.Leu113=)
c.178G>C (p.Gly60Arg)
n.783G>C
17g.78997284C>TCA401308787CANT1c.339G>A (p.Leu113=)
c.178G>A (p.Gly60Arg)
n.783G>A
17g.78997285A>CCA401308788CANT1c.338T>G (p.Leu113Arg)
c.177T>G (p.Pro59=)
n.782T>G
17g.78997285A>GCA401308790CANT1c.338T>C (p.Leu113Pro)
c.177T>C (p.Pro59=)
n.782T>C
17g.78997285A>TCA401308789CANT1c.338T>A (p.Leu113Gln)
c.177T>A (p.Pro59=)
n.782T>A
17g.78997286G>ACA8808748CANT1c.337C>T (p.Leu113=)
c.176C>T (p.Pro59Leu)
n.781C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997286G>CCA401308791CANT1c.337C>G (p.Leu113Val)
c.176C>G (p.Pro59Arg)
n.781C>G
 gnomAD v4
17g.78997286G=CA2277259578CANT1c.337C= (p.Leu113=)
c.176C= (p.Pro59=)
n.781C=
17g.78997286G>TCA401308792CANT1c.337C>A (p.Leu113Met)
c.176C>A (p.Pro59His)
n.781C>A
17g.78997287G>ACA401308793CANT1c.336C>T (p.Asp112=)
c.175C>T (p.Pro59Ser)
n.780C>T
 gnomAD v4
17g.78997287G>CCA401308794CANT1c.336C>G (p.Asp112Glu)
c.175C>G (p.Pro59Ala)
n.780C>G
17g.78997287G=CA2277259579CANT1c.336C= (p.Asp112=)
c.175C= (p.Pro59=)
n.780C=
17g.78997287G>TCA8808749CANT1c.336C>A (p.Asp112Glu)
c.175C>A (p.Pro59Thr)
n.780C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997288T>ACA401308795CANT1c.335A>T (p.Asp112Val)
c.174A>T (p.Arg58Ser)
n.779A>T
17g.78997288T>CCA401308796CANT1c.335A>G (p.Asp112Gly)
c.174A>G (p.Arg58=)
n.779A>G
17g.78997288T>GCA401308797CANT1c.335A>C (p.Asp112Ala)
c.174A>C (p.Arg58Ser)
n.779A>C
17g.78997289C>ACA401308798CANT1c.334G>T (p.Asp112Tyr)
c.173G>T (p.Arg58Ile)
n.778G>T
17g.78997289C=CA2277259580CANT1c.334G= (p.Asp112=)
c.173G= (p.Arg58=)
n.778G=
17g.78997289C>GCA401308799CANT1c.334G>C (p.Asp112His)
c.173G>C (p.Arg58Thr)
n.778G>C
 dbSNP
17g.78997289C>TCA401308800CANT1c.334G>A (p.Asp112Asn)
c.173G>A (p.Arg58Lys)
n.778G>A
17g.78997290T>ACA401308801CANT1c.333A>T (p.Ala111=)
c.172A>T (p.Arg58Ter)
n.777A>T
17g.78997290T>CCA401308802CANT1c.333A>G (p.Ala111=)
c.172A>G (p.Arg58Gly)
n.777A>G
17g.78997290T>GCA502397543CANT1c.333A>C (p.Ala111=)
c.172A>C (p.Arg58=)
n.777A>C
17g.78997291G>ACA294812450CANT1c.332C>T (p.Ala111Val)
c.171C>T (p.Arg57=)
n.776C>T
 dbSNP gnomAD v4
17g.78997291G>CCA401308803CANT1c.332C>G (p.Ala111Gly)
c.171C>G (p.Arg57=)
n.776C>G
 gnomAD v4
17g.78997291G=CA2277259581CANT1c.332C= (p.Ala111=)
c.171C= (p.Arg57=)
n.776C=
17g.78997291G>TCA401308804CANT1c.332C>A (p.Ala111Glu)
c.171C>A (p.Arg57=)
n.776C>A
17g.78997292C>ACA401308805CANT1c.331G>T (p.Ala111Ser)
c.170G>T (p.Arg57Leu)
n.775G>T
17g.78997292C=CA2277259582CANT1c.331G= (p.Ala111=)
c.170G= (p.Arg57=)
n.775G=
17g.78997292C>GCA401308806CANT1c.331G>C (p.Ala111Pro)
c.170G>C (p.Arg57Pro)
n.775G>C
17g.78997292C>TCA8808750CANT1c.331G>A (p.Ala111Thr)
c.170G>A (p.Arg57His)
n.775G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997293G>ACA8808751CANT1c.330C>T (p.Ile110=)
c.169C>T (p.Arg57Cys)
n.774C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997293G>CCA401308808CANT1c.330C>G (p.Ile110Met)
c.169C>G (p.Arg57Gly)
n.774C>G
 gnomAD v4
17g.78997293G=CA2277259583CANT1c.330C= (p.Ile110=)
c.169C= (p.Arg57=)
n.774C=
17g.78997293G>TCA401308807CANT1c.330C>A (p.Ile110=)
c.169C>A (p.Arg57Ser)
n.774C>A
17g.78997294A=CA2277259584CANT1c.329T= (p.Ile110=)
c.168T= (p.Tyr56=)
n.773T=
17g.78997294A>CCA401308809CANT1c.329T>G (p.Ile110Ser)
c.168T>G (p.Tyr56Ter)
n.773T>G
17g.78997294A>GCA8808752CANT1c.329T>C (p.Ile110Thr)
c.168T>C (p.Tyr56=)
n.773T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997294A>TCA401308810CANT1c.329T>A (p.Ile110Asn)
c.168T>A (p.Tyr56Ter)
n.773T>A
17g.78997295T>ACA401308811CANT1c.328A>T (p.Ile110Phe)
c.167A>T (p.Tyr56Phe)
n.772A>T
17g.78997295T>CCA8808753CANT1c.328A>G (p.Ile110Val)
c.167A>G (p.Tyr56Cys)
n.772A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997295T>GCA401308812CANT1c.328A>C (p.Ile110Leu)
c.167A>C (p.Tyr56Ser)
n.772A>C
17g.78997295T=CA2277259585CANT1c.328A= (p.Ile110=)
c.167A= (p.Tyr56=)
n.772A=
17g.78997296A>CCA401308813CANT1c.327T>G (p.Val109=)
c.166T>G (p.Tyr56Asp)
n.771T>G
17g.78997296A>GCA401308815CANT1c.327T>C (p.Val109=)
c.166T>C (p.Tyr56His)
n.771T>C
17g.78997296A>TCA401308814CANT1c.327T>A (p.Val109=)
c.166T>A (p.Tyr56Asn)
n.771T>A
17g.78997297A>CCA401308816CANT1c.326T>G (p.Val109Gly)
c.165T>G (p.Ser55Arg)
n.770T>G
17g.78997297A>GCA401308817CANT1c.326T>C (p.Val109Ala)
c.165T>C (p.Ser55=)
n.770T>C
17g.78997297A>TCA401308818CANT1c.326T>A (p.Val109Asp)
c.165T>A (p.Ser55Arg)
n.770T>A
17g.78997297_78997301dupCA2640216342CANT1c.322_326dup (p.Ile110GlnfsTer22)
c.161_165dup (p.Tyr56AlafsTer?)
n.766_770dup
 gnomAD v4
17g.78997298C>ACA401308819CANT1c.325G>T (p.Val109Phe)
c.164G>T (p.Ser55Ile)
n.769G>T
17g.78997298C>GCA401308820CANT1c.325G>C (p.Val109Leu)
c.164G>C (p.Ser55Thr)
n.769G>C
 gnomAD v4
17g.78997298C>TCA401308821CANT1c.325G>A (p.Val109Ile)
c.164G>A (p.Ser55Asn)
n.769G>A
 ClinVar
17g.78997299T>ACA401308822CANT1c.324A>T (p.Ala108=)
c.163A>T (p.Ser55Cys)
n.768A>T
17g.78997299T>CCA401308823CANT1c.324A>G (p.Ala108=)
c.163A>G (p.Ser55Gly)
n.768A>G
17g.78997299T>GCA401308824CANT1c.324A>C (p.Ala108=)
c.163A>C (p.Ser55Arg)
n.768A>C
17g.78997300G>ACA401308825CANT1c.323C>T (p.Ala108Val)
c.162C>T (p.Arg54=)
n.767C>T
 gnomAD v4
17g.78997300G>CCA401308826CANT1c.323C>G (p.Ala108Gly)
c.162C>G (p.Arg54=)
n.767C>G
17g.78997300G>TCA401308827CANT1c.323C>A (p.Ala108Glu)
c.162C>A (p.Arg54=)
n.767C>A
17g.78997301C>ACA401308829CANT1c.322G>T (p.Ala108Ser)
c.161G>T (p.Arg54Leu)
n.766G>T
17g.78997301C=CA2277259586CANT1c.322G= (p.Ala108=)
c.161G= (p.Arg54=)
n.766G=
17g.78997301C>GCA401308830CANT1c.322G>C (p.Ala108Pro)
c.161G>C (p.Arg54Pro)
n.766G>C
17g.78997301C>TCA401308828CANT1c.322G>A (p.Ala108Thr)
c.161G>A (p.Arg54His)
n.766G>A
 dbSNP gnomAD v2 gnomAD v4
17g.78997302G>ACA8808754CANT1c.321C>T (p.Ile107=)
c.160C>T (p.Arg54Cys)
n.765C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.78997302G>CCA401308831CANT1c.321C>G (p.Ile107Met)
c.160C>G (p.Arg54Gly)
n.765C>G
17g.78997302G=CA2277259587CANT1c.321C= (p.Ile107=)
c.160C= (p.Arg54=)
n.765C=
17g.78997302G>TCA401308832CANT1c.321C>A (p.Ile107=)
c.160C>A (p.Arg54Ser)
n.765C>A
 dbSNP
17g.78997303A=CA2277259588CANT1c.320T= (p.Ile107=)
c.159T= (p.Asn53=)
n.764T=
17g.78997303A>CCA401308833CANT1c.320T>G (p.Ile107Ser)
c.159T>G (p.Asn53Lys)
n.764T>G
17g.78997303A>GCA401308834CANT1c.320T>C (p.Ile107Thr)
c.159T>C (p.Asn53=)
n.764T>C
17g.78997303A>TCA401308835CANT1c.320T>A (p.Ile107Asn)
c.159T>A (p.Asn53Lys)
n.764T>A
 dbSNP gnomAD v2 gnomAD v4
17g.78997304T>ACA401308836CANT1c.319A>T (p.Ile107Phe)
c.158A>T (p.Asn53Ile)
n.763A>T
17g.78997304T>CCA401308837CANT1c.319A>G (p.Ile107Val)
c.158A>G (p.Asn53Ser)
n.763A>G
 gnomAD v4
17g.78997304T>GCA401308838CANT1c.319A>C (p.Ile107Leu)
c.158A>C (p.Asn53Thr)
n.763A>C
17g.78997305T>ACA401308839CANT1c.318A>T (p.Arg106=)
c.157A>T (p.Asn53Tyr)
n.762A>T
17g.78997305T>CCA401308840CANT1c.318A>G (p.Arg106=)
c.157A>G (p.Asn53Asp)
n.762A>G
17g.78997305T>GCA401308841CANT1c.318A>C (p.Arg106=)
c.157A>C (p.Asn53His)
n.762A>C
17g.78997306C>ACA401308842CANT1c.317G>T (p.Arg106Leu)
c.156G>T (p.Ser52=)
n.761G>T
17g.78997306C=CA2277259589CANT1c.317G= (p.Arg106=)
c.156G= (p.Ser52=)
n.761G=
17g.78997306C>GCA401308843CANT1c.317G>C (p.Arg106Pro)
c.156G>C (p.Ser52=)
n.761G>C
 gnomAD v4
17g.78997306C>TCA8808755CANT1c.317G>A (p.Arg106Gln)
c.156G>A (p.Ser52=)
n.761G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997307G>ACA8808756CANT1c.316C>T (p.Arg106Ter)
c.155C>T (p.Ser52Leu)
n.760C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.78997307G>CCA401308844CANT1c.316C>G (p.Arg106Gly)
c.155C>G (p.Ser52Trp)
n.760C>G
17g.78997307G=CA2277259590CANT1c.316C= (p.Arg106=)
c.155C= (p.Ser52=)
n.760C=
17g.78997307G>TCA401308845CANT1c.316C>A (p.Arg106=)
c.155C>A (p.Ser52Ter)
n.760C>A
17g.78997308A>CCA401308846CANT1c.315T>G (p.Tyr105Ter)
c.154T>G (p.Ser52Ala)
n.759T>G
17g.78997308A>GCA401308847CANT1c.315T>C (p.Tyr105=)
c.154T>C (p.Ser52Pro)
n.759T>C
 dbSNP
17g.78997308A>TCA401308848CANT1c.315T>A (p.Tyr105Ter)
c.154T>A (p.Ser52Thr)
n.759T>A
17g.78997309T>ACA401308849CANT1c.314A>T (p.Tyr105Phe)
c.153A>T (p.Val51=)
n.758A>T
17g.78997309T>CCA294812477CANT1c.314A>G (p.Tyr105Cys)
c.153A>G (p.Val51=)
n.758A>G
 dbSNP gnomAD v4
17g.78997309T>GCA401308850CANT1c.314A>C (p.Tyr105Ser)
c.153A>C (p.Val51=)
n.758A>C
17g.78997309T=CA2277259591CANT1c.314A= (p.Tyr105=)
c.153A= (p.Val51=)
n.758A=
17g.78997310A=CA2277259592CANT1c.313T= (p.Tyr105=)
c.152T= (p.Val51=)
n.757T=
17g.78997310A>CCA401308851CANT1c.313T>G (p.Tyr105Asp)
c.152T>G (p.Val51Gly)
n.757T>G
 dbSNP
17g.78997310A>GCA401308852CANT1c.313T>C (p.Tyr105His)
c.152T>C (p.Val51Ala)
n.757T>C
17g.78997310A>TCA401308853CANT1c.313T>A (p.Tyr105Asn)
c.152T>A (p.Val51Glu)
n.757T>A
17g.78997311C>ACA401308854CANT1c.312G>T (p.Arg104=)
c.151G>T (p.Val51Leu)
n.756G>T
 ClinVar gnomAD v4
17g.78997311C=CA2277259593CANT1c.312G= (p.Arg104=)
c.151G= (p.Val51=)
n.756G=
17g.78997311C>GCA401308855CANT1c.312G>C (p.Arg104=)
c.151G>C (p.Val51Leu)
n.756G>C
17g.78997311C>TCA8808757CANT1c.312G>A (p.Arg104=)
c.151G>A (p.Val51Ile)
n.756G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997312C>ACA401308857CANT1c.311G>T (p.Arg104Leu)
c.150G>T (p.Ser50=)
n.755G>T
17g.78997312C=CA2277259594CANT1c.311G= (p.Arg104=)
c.150G= (p.Ser50=)
n.755G=
17g.78997312C>GCA401308856CANT1c.311G>C (p.Arg104Pro)
c.150G>C (p.Ser50=)
n.755G>C
17g.78997312C>TCA8808758CANT1c.311G>A (p.Arg104Gln)
c.150G>A (p.Ser50=)
n.755G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997313G>ACA8808759CANT1c.310C>T (p.Arg104Trp)
c.149C>T (p.Ser50Leu)
n.754C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997313G>CCA401308858CANT1c.310C>G (p.Arg104Gly)
c.149C>G (p.Ser50Trp)
n.754C>G
17g.78997313G=CA2277259595CANT1c.310C= (p.Arg104=)
c.149C= (p.Ser50=)
n.754C=
17g.78997313G>TCA401308859CANT1c.310C>A (p.Arg104=)
c.149C>A (p.Ser50Ter)
n.754C>A
17g.78997314A>CCA401308860CANT1c.309T>G (p.Ile103Met)
c.148T>G (p.Ser50Ala)
n.753T>G
17g.78997314A>GCA401308861CANT1c.309T>C (p.Ile103=)
c.148T>C (p.Ser50Pro)
n.753T>C
17g.78997314A>TCA401308862CANT1c.309T>A (p.Ile103=)
c.148T>A (p.Ser50Thr)
n.753T>A
17g.78997315A>CCA401308865CANT1c.308T>G (p.Ile103Ser)
c.147T>G (p.Asp49Glu)
n.752T>G
17g.78997315A>GCA401308864CANT1c.308T>C (p.Ile103Thr)
c.147T>C (p.Asp49=)
n.752T>C
 gnomAD v4
17g.78997315A>TCA401308863CANT1c.308T>A (p.Ile103Asn)
c.147T>A (p.Asp49Glu)
n.752T>A
17g.78997316T>ACA401308866CANT1c.307A>T (p.Ile103Phe)
c.146A>T (p.Asp49Val)
n.751A>T
17g.78997316T>CCA401308867CANT1c.307A>G (p.Ile103Val)
c.146A>G (p.Asp49Gly)
n.751A>G
17g.78997316T>GCA401308868CANT1c.307A>C (p.Ile103Leu)
c.146A>C (p.Asp49Ala)
n.751A>C
17g.78997316T=CA2277259596CANT1c.307A= (p.Ile103=)
c.146A= (p.Asp49=)
n.751A=
17g.78997317C>ACA401308869CANT1c.306G>T (p.Gly102=)
c.145G>T (p.Asp49Tyr)
n.750G>T
 gnomAD v4
17g.78997317C>GCA401308870CANT1c.306G>C (p.Gly102=)
c.145G>C (p.Asp49His)
n.750G>C
17g.78997317C>TCA401308871CANT1c.306G>A (p.Gly102=)
c.145G>A (p.Asp49Asn)
n.750G>A
17g.78997319dupCA775366442CANT1c.306dup (p.Ile103AspfsTer?)
c.145dup (p.Asp49GlyfsTer28)
n.750dup
 dbSNP gnomAD v3 gnomAD v4
17g.78997318C>ACA401308872CANT1c.305G>T (p.Gly102Val)
c.144G>T (p.Trp48Cys)
n.749G>T
 COSMIC
17g.78997318C>GCA401308874CANT1c.305G>C (p.Gly102Ala)
c.144G>C (p.Trp48Cys)
n.749G>C
17g.78997318C>TCA401308873CANT1c.305G>A (p.Gly102Glu)
c.144G>A (p.Trp48Ter)
n.749G>A
17g.78997319C>ACA401308875CANT1c.304G>T (p.Gly102Trp)
c.143G>T (p.Trp48Leu)
n.748G>T
17g.78997319C>GCA401308876CANT1c.304G>C (p.Gly102Arg)
c.143G>C (p.Trp48Ser)
n.748G>C
17g.78997319C>TCA401308877CANT1c.304G>A (p.Gly102Arg)
c.143G>A (p.Trp48Ter)
n.748G>A
 gnomAD v4
17g.78997320A>CCA401308878CANT1c.303T>G (p.Ala101=)
c.142T>G (p.Trp48Gly)
n.747T>G
17g.78997320A>GCA401308879CANT1c.303T>C (p.Ala101=)
c.142T>C (p.Trp48Arg)
n.747T>C
17g.78997320A>TCA401308880CANT1c.303T>A (p.Ala101=)
c.142T>A (p.Trp48Arg)
n.747T>A
17g.78997321G>ACA401308881CANT1c.302C>T (p.Ala101Val)
c.141C>T (p.Gly47=)
n.746C>T
 COSMIC
17g.78997321G>CCA401308882CANT1c.302C>G (p.Ala101Gly)
c.141C>G (p.Gly47=)
n.746C>G
 dbSNP gnomAD v2 gnomAD v4
17g.78997321G=CA2277259597CANT1c.302C= (p.Ala101=)
c.141C= (p.Gly47=)
n.746C=
17g.78997321G>TCA401308883CANT1c.302C>A (p.Ala101Asp)
c.141C>A (p.Gly47=)
n.746C>A
17g.78997322C>ACA401308884CANT1c.301G>T (p.Ala101Ser)
c.140G>T (p.Gly47Val)
n.745G>T
17g.78997322C=CA2277259598CANT1c.301G= (p.Ala101=)
c.140G= (p.Gly47=)
n.745G=
17g.78997322C>GCA401308885CANT1c.301G>C (p.Ala101Pro)
c.140G>C (p.Gly47Ala)
n.745G>C
17g.78997322C>TCA401308886CANT1c.301G>A (p.Ala101Thr)
c.140G>A (p.Gly47Asp)
n.745G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.78997323C>ACA401308888CANT1c.300G>T (p.Pro100=)
c.139G>T (p.Gly47Cys)
n.744G>T
 gnomAD v3 gnomAD v4
17g.78997323C=CA2277259599CANT1c.300G= (p.Pro100=)
c.139G= (p.Gly47=)
n.744G=
17g.78997323C>GCA401308887CANT1c.300G>C (p.Pro100=)
c.139G>C (p.Gly47Arg)
n.744G>C
17g.78997323C>TCA8808760CANT1c.300G>A (p.Pro100=)
c.139G>A (p.Gly47Ser)
n.744G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997324G>ACA401308889CANT1c.299C>T (p.Pro100Leu)
c.138C>T (p.Thr46=)
n.743C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.78997324G>CCA401308890CANT1c.299C>G (p.Pro100Arg)
c.138C>G (p.Thr46=)
n.743C>G
 gnomAD v4
17g.78997324G=CA2277259600CANT1c.299C= (p.Pro100=)
c.138C= (p.Thr46=)
n.743C=
17g.78997324G>TCA401308891CANT1c.299C>A (p.Pro100Gln)
c.138C>A (p.Thr46=)
n.743C>A
17g.78997325G>ACA401308892CANT1c.298C>T (p.Pro100Ser)
c.137C>T (p.Thr46Ile)
n.742C>T
 gnomAD v4
17g.78997325G>CCA401308893CANT1c.298C>G (p.Pro100Ala)
c.137C>G (p.Thr46Ser)
n.742C>G
17g.78997325G>TCA401308894CANT1c.298C>A (p.Pro100Thr)
c.137C>A (p.Thr46Asn)
n.742C>A
17g.78997326T>ACA401308897CANT1c.297A>T (p.Thr99=)
c.136A>T (p.Thr46Ser)
n.741A>T
17g.78997326T>CCA401308896CANT1c.297A>G (p.Thr99=)
c.136A>G (p.Thr46Ala)
n.741A>G
17g.78997326T>GCA401308895CANT1c.297A>C (p.Thr99=)
c.136A>C (p.Thr46Pro)
n.741A>C
17g.78997327G>ACA401308898CANT1c.296C>T (p.Thr99Ile)
c.135C>T (p.Asp45=)
n.740C>T
17g.78997327G>CCA401308899CANT1c.296C>G (p.Thr99Arg)
c.135C>G (p.Asp45Glu)
n.740C>G
17g.78997327G>TCA401308900CANT1c.296C>A (p.Thr99Lys)
c.135C>A (p.Asp45Glu)
n.740C>A
17g.78997328T>ACA401308901CANT1c.295A>T (p.Thr99Ser)
c.134A>T (p.Asp45Val)
n.739A>T
17g.78997328T>CCA401308902CANT1c.295A>G (p.Thr99Ala)
c.134A>G (p.Asp45Gly)
n.739A>G
17g.78997328T>GCA401308903CANT1c.295A>C (p.Thr99Pro)
c.134A>C (p.Asp45Ala)
n.739A>C
17g.78997329C>ACA401308904CANT1c.294G>T (p.Arg98Ser)
c.133G>T (p.Asp45Tyr)
n.738G>T
17g.78997329C=CA2277259601CANT1c.294G= (p.Arg98=)
c.133G= (p.Asp45=)
n.738G=
17g.78997329C>GCA401308905CANT1c.294G>C (p.Arg98Ser)
c.133G>C (p.Asp45His)
n.738G>C
17g.78997329C>TCA8808761CANT1c.294G>A (p.Arg98=)
c.133G>A (p.Asp45Asn)
n.738G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997330C>ACA401308906CANT1c.293G>T (p.Arg98Met)
c.133-1G>T (n.133-1G>T)
n.737G>T
17g.78997330C=CA2277259602CANT1c.293G= (p.Arg98=)
c.133-1G= (n.133-1G=)
n.737G=
17g.78997330C>GCA8808762CANT1c.293G>C (p.Arg98Thr)
c.133-1G>C (n.133-1G>C)
n.737G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997330C>TCA401308907CANT1c.293G>A (p.Arg98Lys)
c.133-1G>A (n.133-1G>A)
n.737G>A
17g.78997331T>ACA401308908CANT1c.292A>T (p.Arg98Trp)
c.133-2A>T (n.133-2A>T)
n.736A>T
17g.78997331T>CCA401308909CANT1c.292A>G (p.Arg98Gly)
c.133-2A>G (n.133-2A>G)
n.736A>G
17g.78997331T>GCA401308910CANT1c.292A>C (p.Arg98=)
c.133-2A>C (n.133-2A>C)
n.736A>C
17g.78997332T>ACA401308911CANT1c.291A>T (p.Gln97His)
c.133-3A>T (n.133-3A>T)
n.735A>T
17g.78997332T>CCA8808763CANT1c.291A>G (p.Gln97=)
c.133-3A>G (n.133-3A>G)
n.735A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997332T>GCA401308912CANT1c.291A>C (p.Gln97His)
c.133-3A>C (n.133-3A>C)
n.735A>C
17g.78997332T=CA2277259603CANT1c.291A= (p.Gln97=)
c.133-3A= (n.133-3A=)
n.735A=
17g.78997333T>ACA401308913CANT1c.290A>T (p.Gln97Leu)
c.133-4A>T (n.133-4A>T)
n.734A>T
17g.78997333T>CCA401308914CANT1c.290A>G (p.Gln97Arg)
c.133-4A>G (n.133-4A>G)
n.734A>G
17g.78997333T>GCA401308915CANT1c.290A>C (p.Gln97Pro)
c.133-4A>C (n.133-4A>C)
n.734A>C
17g.78997334G>ACA401308916CANT1c.289C>T (p.Gln97Ter)
c.133-5C>T (n.133-5C>T)
n.733C>T
17g.78997334G>CCA401308918CANT1c.289C>G (p.Gln97Glu)
c.133-5C>G (n.133-5C>G)
n.733C>G
17g.78997334G>TCA401308917CANT1c.289C>A (p.Gln97Lys)
c.133-5C>A (n.133-5C>A)
n.733C>A
17g.78997335T>ACA502397544CANT1c.288A>T (p.Pro96=)
c.133-6A>T (n.133-6A>T)
n.732A>T
17g.78997335T>CCA502397545CANT1c.288A>G (p.Pro96=)
c.133-6A>G (n.133-6A>G)
n.732A>G
17g.78997335T>GCA502397546CANT1c.288A>C (p.Pro96=)
c.133-6A>C (n.133-6A>C)
n.732A>C
17g.78997336G>ACA10651215CANT1c.287C>T (p.Pro96Leu)
c.133-7C>T (n.133-7C>T)
n.731C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.78997336G>CCA8808765CANT1c.287C>G (p.Pro96Arg)
c.133-7C>G (n.133-7C>G)
n.731C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997336G=CA2277259604CANT1c.287C= (p.Pro96=)
c.133-7C= (n.133-7C=)
n.731C=
17g.78997336G>TCA8808764CANT1c.287C>A (p.Pro96Gln)
c.133-7C>A (n.133-7C>A)
n.731C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997337G>ACA401308919CANT1c.286C>T (p.Pro96Ser)
c.133-8C>T (n.133-8C>T)
n.730C>T
17g.78997337G>CCA401308920CANT1c.286C>G (p.Pro96Ala)
c.133-8C>G (n.133-8C>G)
n.730C>G
17g.78997337G>TCA401308921CANT1c.286C>A (p.Pro96Thr)
c.133-8C>A (n.133-8C>A)
n.730C>A
17g.78997338G>ACA502397547CANT1c.285C>T (p.Pro95=)
c.133-9C>T (n.133-9C>T)
n.729C>T
17g.78997338G>CCA294812499CANT1c.285C>G (p.Pro95=)
c.133-9C>G (n.133-9C>G)
n.729C>G
 dbSNP
17g.78997338G=CA2277259605CANT1c.285C= (p.Pro95=)
c.133-9C= (n.133-9C=)
n.729C=
17g.78997338G>TCA502397548CANT1c.285C>A (p.Pro95=)
c.133-9C>A (n.133-9C>A)
n.729C>A
17g.78997339G>ACA8808766CANT1c.284C>T (p.Pro95Leu)
c.133-10C>T (n.133-10C>T)
n.728C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997339G>CCA401308922CANT1c.284C>G (p.Pro95Arg)
c.133-10C>G (n.133-10C>G)
n.728C>G
17g.78997339G=CA2277259606CANT1c.284C= (p.Pro95=)
c.133-10C= (n.133-10C=)
n.728C=
17g.78997339G>TCA401308923CANT1c.284C>A (p.Pro95His)
c.133-10C>A (n.133-10C>A)
n.728C>A
 dbSNP gnomAD v2 gnomAD v4
17g.78997340G>ACA401308924CANT1c.283C>T (p.Pro95Ser)
c.133-11C>T (n.133-11C>T)
n.727C>T
 gnomAD v4
17g.78997340G>CCA401308925CANT1c.283C>G (p.Pro95Ala)
c.133-11C>G (n.133-11C>G)
n.727C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.78997340G=CA2277259607CANT1c.283C= (p.Pro95=)
c.133-11C= (n.133-11C=)
n.727C=
17g.78997340G>TCA401308926CANT1c.283C>A (p.Pro95Thr)
c.133-11C>A (n.133-11C>A)
n.727C>A
17g.78997341A>CCA502397908CANT1c.282T>G (p.Ser94=)
c.133-12T>G (n.133-12T>G)
n.726T>G
17g.78997341A>GCA502397909CANT1c.282T>C (p.Ser94=)
c.133-12T>C (n.133-12T>C)
n.726T>C
 gnomAD v4
17g.78997341A>TCA502397911CANT1c.282T>A (p.Ser94=)
c.133-12T>A (n.133-12T>A)
n.726T>A
17g.78997342G>ACA401308929CANT1c.281C>T (p.Ser94Phe)
c.133-13C>T (n.133-13C>T)
n.725C>T
17g.78997342G>CCA401308928CANT1c.281C>G (p.Ser94Cys)
c.133-13C>G (n.133-13C>G)
n.725C>G
17g.78997342G>TCA401308927CANT1c.281C>A (p.Ser94Tyr)
c.133-13C>A (n.133-13C>A)
n.725C>A
17g.78997343A>CCA401308930CANT1c.280T>G (p.Ser94Ala)
c.133-14T>G (n.133-14T>G)
n.724T>G
17g.78997343A>GCA401308931CANT1c.280T>C (p.Ser94Pro)
c.133-14T>C (n.133-14T>C)
n.724T>C
17g.78997343A>TCA401308932CANT1c.280T>A (p.Ser94Thr)
c.133-14T>A (n.133-14T>A)
n.724T>A
17g.78997344C>ACA502397915CANT1c.279G>T (p.Leu93=)
c.133-15G>T (n.133-15G>T)
n.723G>T
17g.78997344C=CA2277259609CANT1c.279G= (p.Leu93=)
c.133-15G= (n.133-15G=)
n.723G=
17g.78997344C>GCA8808767CANT1c.279G>C (p.Leu93=)
c.133-15G>C (n.133-15G>C)
n.723G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997344C>TCA502397914CANT1c.279G>A (p.Leu93=)
c.133-15G>A (n.133-15G>A)
n.723G>A
 dbSNP gnomAD v2 gnomAD v4
17g.78997344_78997345delinsCACA2277259610CANT1c.278_279delinsTG (p.Leu93=)
c.133-16_133-15delinsTG (n.133-16_133-15delinsTG)
n.722_723delinsTG
17g.78997344_78997346delinsCAGCA2277259608CANT1c.277_279delinsCTG (p.Leu93=)
c.133-17_133-15delinsCTG (n.133-17_133-15delinsCTG)
n.721_723delinsCTG
17g.78997345delCA201723CANT1c.278del (p.Leu93ArgfsTer?)
c.133-16del (n.133-16del)
n.722del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997345A=CA2277259611CANT1c.278T= (p.Leu93=)
c.133-16T= (n.133-16T=)
n.722T=
17g.78997345A>CCA401308933CANT1c.278T>G (p.Leu93Arg)
c.133-16T>G (n.133-16T>G)
n.722T>G
17g.78997345A>GCA8808768CANT1c.278T>C (p.Leu93Pro)
c.133-16T>C (n.133-16T>C)
n.722T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997345A>TCA401308934CANT1c.278T>A (p.Leu93Gln)
c.133-16T>A (n.133-16T>A)
n.722T>A
17g.78997345_78997346delCA129621CANT1c.277_278del (p.Leu93ValfsTer?)
c.133-17_133-16del (n.133-17_133-16del)
n.721_722del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997346G>ACA502397917CANT1c.277C>T (p.Leu93=)
c.133-17C>T (n.133-17C>T)
n.721C>T
 gnomAD v4
17g.78997346G>CCA401308935CANT1c.277C>G (p.Leu93Val)
c.133-17C>G (n.133-17C>G)
n.721C>G
17g.78997346G>TCA401308936CANT1c.277C>A (p.Leu93Met)
c.133-17C>A (n.133-17C>A)
n.721C>A
17g.78997350delCA2640216413CANT1c.277del (p.Leu93CysfsTer?)
c.133-17del (n.133-17del)
n.721del
 gnomAD v4
17g.78997349_78997350delCA401308937CANT1c.276_277del (p.Leu93ValfsTer?)
c.133-18_133-17del (n.133-18_133-17del)
n.720_721del
17g.78997347G>ACA502397919CANT1c.276C>T (p.Pro92=)
c.133-18C>T (n.133-18C>T)
n.720C>T
 gnomAD v4
17g.78997347G>CCA502397920CANT1c.276C>G (p.Pro92=)
c.133-18C>G (n.133-18C>G)
n.720C>G
 ClinVar gnomAD v4
17g.78997347G>TCA502397918CANT1c.276C>A (p.Pro92=)
c.133-18C>A (n.133-18C>A)
n.720C>A
 gnomAD v4
17g.78997348G>ACA401308938CANT1c.275C>T (p.Pro92Leu)
c.133-19C>T (n.133-19C>T)
n.719C>T
17g.78997348G>CCA401308940CANT1c.275C>G (p.Pro92Arg)
c.133-19C>G (n.133-19C>G)
n.719C>G
17g.78997348G>TCA401308939CANT1c.275C>A (p.Pro92His)
c.133-19C>A (n.133-19C>A)
n.719C>A
17g.78997349G>ACA401308941CANT1c.274C>T (p.Pro92Ser)
c.133-20C>T (n.133-20C>T)
n.718C>T
17g.78997349G>CCA401308943CANT1c.274C>G (p.Pro92Ala)
c.133-20C>G (n.133-20C>G)
n.718C>G
17g.78997349G>TCA401308942CANT1c.274C>A (p.Pro92Thr)
c.133-20C>A (n.133-20C>A)
n.718C>A
17g.78997352_78997355delCA2640216417CANT1c.271_274del (p.Tyr91ProfsTer?)
c.133-23_133-20del (n.133-23_133-20del)
n.715_718del
 gnomAD v4
17g.78997350G>ACA8808770CANT1c.273C>T (p.Tyr91=)
c.133-21C>T (n.133-21C>T)
n.717C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997350G>CCA401308944CANT1c.273C>G (p.Tyr91Ter)
c.133-21C>G (n.133-21C>G)
n.717C>G
17g.78997350G=CA2277259612CANT1c.273C= (p.Tyr91=)
c.133-21C= (n.133-21C=)
n.717C=
17g.78997350G>TCA8808769CANT1c.273C>A (p.Tyr91Ter)
c.133-21C>A (n.133-21C>A)
n.717C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997351T>ACA401308945CANT1c.272A>T (p.Tyr91Phe)
c.133-22A>T (n.133-22A>T)
n.716A>T
17g.78997351T>CCA401308946CANT1c.272A>G (p.Tyr91Cys)
c.133-22A>G (n.133-22A>G)
n.716A>G
17g.78997351T>GCA401308947CANT1c.272A>C (p.Tyr91Ser)
c.133-22A>C (n.133-22A>C)
n.716A>C
17g.78997352A=CA2277259613CANT1c.271T= (p.Tyr91=)
c.133-23T= (n.133-23T=)
n.715T=
17g.78997352A>CCA401308948CANT1c.271T>G (p.Tyr91Asp)
c.133-23T>G (n.133-23T>G)
n.715T>G
17g.78997352A>GCA8808771CANT1c.271T>C (p.Tyr91His)
c.133-23T>C (n.133-23T>C)
n.715T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997352A>TCA401308949CANT1c.271T>A (p.Tyr91Asn)
c.133-23T>A (n.133-23T>A)
n.715T>A
17g.78997353G>ACA502397926CANT1c.270C>T (p.Thr90=)
c.133-24C>T (n.133-24C>T)
n.714C>T
17g.78997353G>CCA502397927CANT1c.270C>G (p.Thr90=)
c.133-24C>G (n.133-24C>G)
n.714C>G
17g.78997353G>TCA502397928CANT1c.270C>A (p.Thr90=)
c.133-24C>A (n.133-24C>A)
n.714C>A
17g.78997354G>ACA8808772CANT1c.269C>T (p.Thr90Ile)
c.133-25C>T (n.133-25C>T)
n.713C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997354G>CCA401308950CANT1c.269C>G (p.Thr90Ser)
c.133-25C>G (n.133-25C>G)
n.713C>G
17g.78997354G=CA2277259614CANT1c.269C= (p.Thr90=)
c.133-25C= (n.133-25C=)
n.713C=
17g.78997354G>TCA401308951CANT1c.269C>A (p.Thr90Asn)
c.133-25C>A (n.133-25C>A)
n.713C>A
17g.78997355T>ACA401308952CANT1c.268A>T (p.Thr90Ser)
c.133-26A>T (n.133-26A>T)
n.712A>T
17g.78997355T>CCA8808773CANT1c.268A>G (p.Thr90Ala)
c.133-26A>G (n.133-26A>G)
n.712A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78997355T>GCA401308953CANT1c.268A>C (p.Thr90Pro)
c.133-26A>C (n.133-26A>C)
n.712A>C
17g.78997355T=CA2277259615CANT1c.268A= (p.Thr90=)
c.133-26A= (n.133-26A=)
n.712A=
17g.78997356delCA2640216436CANT1c.267del (p.Asp89GlufsTer?)
c.133-27del (n.133-27del)
n.711del
 gnomAD v4
17g.78997356G>ACA502397930CANT1c.267C>T (p.Asp89=)
c.133-27C>T (n.133-27C>T)
n.711C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.78997356G>CCA401308955CANT1c.267C>G (p.Asp89Glu)
c.133-27C>G (n.133-27C>G)
n.711C>G
17g.78997356G=CA2277259616CANT1c.267C= (p.Asp89=)
c.133-27C= (n.133-27C=)
n.711C=
17g.78997356G>TCA401308954CANT1c.267C>A (p.Asp89Glu)
c.133-27C>A (n.133-27C>A)
n.711C>A
17g.78997357T>ACA8808774CANT1c.266A>T (p.Asp89Val)
c.133-28A>T (n.133-28A>T)
n.710A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.78997357T>CCA401308956CANT1c.266A>G (p.Asp89Gly)
c.133-28A>G (n.133-28A>G)
n.710A>G
17g.78997357T>GCA401308957CANT1c.266A>C (p.Asp89Ala)
c.133-28A>C (n.133-28A>C)
n.710A>C
17g.78997357T=CA2277259617CANT1c.266A= (p.Asp89=)
c.133-28A= (n.133-28A=)
n.710A=

Number of alleles fetched