| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98389756G>A | CA16621756 | CNGA3 | c.548G>A (p.Trp183Ter) n.553G>A c.560G>A (p.Trp187Ter) c.494G>A (p.Trp165Ter) c.659G>A (p.Trp220Ter) c.713G>A (p.Trp238Ter) | ClinVar dbSNP |
| 2 | g.98389756G>C | CA347831615 | CNGA3 | c.548G>C (p.Trp183Ser) n.553G>C c.560G>C (p.Trp187Ser) c.494G>C (p.Trp165Ser) c.659G>C (p.Trp220Ser) c.713G>C (p.Trp238Ser) | |
| 2 | g.98389756G= | CA1273416702 | CNGA3 | c.548G= (p.Trp183=) n.553G= c.560G= (p.Trp187=) c.494G= (p.Trp165=) c.659G= (p.Trp220=) c.713G= (p.Trp238=) | |
| 2 | g.98389756G>T | CA347831616 | CNGA3 | c.548G>T (p.Trp183Leu) n.553G>T c.560G>T (p.Trp187Leu) c.494G>T (p.Trp165Leu) c.659G>T (p.Trp220Leu) c.713G>T (p.Trp238Leu) | |
| 2 | g.98389757G>A | CA347831617 | CNGA3 | c.549G>A (p.Trp183Ter) n.554G>A c.561G>A (p.Trp187Ter) c.495G>A (p.Trp165Ter) c.660G>A (p.Trp220Ter) c.714G>A (p.Trp238Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.98389757G>C | CA347831618 | CNGA3 | c.549G>C (p.Trp183Cys) n.554G>C c.561G>C (p.Trp187Cys) c.495G>C (p.Trp165Cys) c.660G>C (p.Trp220Cys) c.714G>C (p.Trp238Cys) | |
| 2 | g.98389757G= | CA1273416703 | CNGA3 | c.549G= (p.Trp183=) n.554G= c.561G= (p.Trp187=) c.495G= (p.Trp165=) c.660G= (p.Trp220=) c.714G= (p.Trp238=) | |
| 2 | g.98389757G>T | CA347831619 | CNGA3 | c.549G>T (p.Trp183Cys) n.554G>T c.561G>T (p.Trp187Cys) c.495G>T (p.Trp165Cys) c.660G>T (p.Trp220Cys) c.714G>T (p.Trp238Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.98389758T>A | CA347831620 | CNGA3 | c.550T>A (p.Tyr184Asn) n.555T>A c.562T>A (p.Tyr188Asn) c.496T>A (p.Tyr166Asn) c.661T>A (p.Tyr221Asn) c.715T>A (p.Tyr239Asn) | |
| 2 | g.98389758T>C | CA347831621 | CNGA3 | c.550T>C (p.Tyr184His) n.555T>C c.562T>C (p.Tyr188His) c.496T>C (p.Tyr166His) c.661T>C (p.Tyr221His) c.715T>C (p.Tyr239His) | |
| 2 | g.98389758T>G | CA347831622 | CNGA3 | c.550T>G (p.Tyr184Asp) n.555T>G c.562T>G (p.Tyr188Asp) c.496T>G (p.Tyr166Asp) c.661T>G (p.Tyr221Asp) c.715T>G (p.Tyr239Asp) | |
| 2 | g.98389759A>C | CA347831623 | CNGA3 | c.551A>C (p.Tyr184Ser) n.556A>C c.563A>C (p.Tyr188Ser) c.497A>C (p.Tyr166Ser) c.662A>C (p.Tyr221Ser) c.716A>C (p.Tyr239Ser) | |
| 2 | g.98389759A>G | CA347831625 | CNGA3 | c.551A>G (p.Tyr184Cys) n.556A>G c.563A>G (p.Tyr188Cys) c.497A>G (p.Tyr166Cys) c.662A>G (p.Tyr221Cys) c.716A>G (p.Tyr239Cys) | dbSNP gnomAD v4 |
| 2 | g.98389759A>T | CA347831624 | CNGA3 | c.551A>T (p.Tyr184Phe) n.556A>T c.563A>T (p.Tyr188Phe) c.497A>T (p.Tyr166Phe) c.662A>T (p.Tyr221Phe) c.716A>T (p.Tyr239Phe) | |
| 2 | g.98389760T>A | CA347831626 | CNGA3 | c.552T>A (p.Tyr184Ter) n.557T>A c.564T>A (p.Tyr188Ter) c.498T>A (p.Tyr166Ter) c.663T>A (p.Tyr221Ter) c.717T>A (p.Tyr239Ter) | |
| 2 | g.98389760T>C | CA427567104 | CNGA3 | c.552T>C (p.Tyr184=) n.557T>C c.564T>C (p.Tyr188=) c.498T>C (p.Tyr166=) c.663T>C (p.Tyr221=) c.717T>C (p.Tyr239=) | |
| 2 | g.98389760T>G | CA347831627 | CNGA3 | c.552T>G (p.Tyr184Ter) n.557T>G c.564T>G (p.Tyr188Ter) c.498T>G (p.Tyr166Ter) c.663T>G (p.Tyr221Ter) c.717T>G (p.Tyr239Ter) | |
| 2 | g.98389761C>A | CA347831628 | CNGA3 | c.553C>A (p.Leu185Met) n.558C>A c.565C>A (p.Leu189Met) c.499C>A (p.Leu167Met) c.664C>A (p.Leu222Met) c.718C>A (p.Leu240Met) | |
| 2 | g.98389761C= | CA1273416704 | CNGA3 | c.553C= (p.Leu185=) n.558C= c.565C= (p.Leu189=) c.499C= (p.Leu167=) c.664C= (p.Leu222=) c.718C= (p.Leu240=) | |
| 2 | g.98389761C>G | CA1793786 | CNGA3 | c.553C>G (p.Leu185Val) n.558C>G c.565C>G (p.Leu189Val) c.499C>G (p.Leu167Val) c.664C>G (p.Leu222Val) c.718C>G (p.Leu240Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.98389761C>T | CA427567105 | CNGA3 | c.553C>T (p.Leu185=) n.558C>T c.565C>T (p.Leu189=) c.499C>T (p.Leu167=) c.664C>T (p.Leu222=) c.718C>T (p.Leu240=) | |
| 2 | g.98389762T>A | CA347831629 | CNGA3 | c.554T>A (p.Leu185Gln) n.559T>A c.566T>A (p.Leu189Gln) c.500T>A (p.Leu167Gln) c.665T>A (p.Leu222Gln) c.719T>A (p.Leu240Gln) | |
| 2 | g.98389762T>C | CA347831630 | CNGA3 | c.554T>C (p.Leu185Pro) n.559T>C c.566T>C (p.Leu189Pro) c.500T>C (p.Leu167Pro) c.665T>C (p.Leu222Pro) c.719T>C (p.Leu240Pro) | |
| 2 | g.98389762T>G | CA347831631 | CNGA3 | c.554T>G (p.Leu185Arg) n.559T>G c.566T>G (p.Leu189Arg) c.500T>G (p.Leu167Arg) c.665T>G (p.Leu222Arg) c.719T>G (p.Leu240Arg) | |
| 2 | g.98389763G>A | CA427567106 | CNGA3 | c.555G>A (p.Leu185=) n.560G>A c.567G>A (p.Leu189=) c.501G>A (p.Leu167=) c.666G>A (p.Leu222=) c.720G>A (p.Leu240=) | |
| 2 | g.98389763G>C | CA427567107 | CNGA3 | c.555G>C (p.Leu185=) n.560G>C c.567G>C (p.Leu189=) c.501G>C (p.Leu167=) c.666G>C (p.Leu222=) c.720G>C (p.Leu240=) | |
| 2 | g.98389763G>T | CA427567108 | CNGA3 | c.555G>T (p.Leu185=) n.560G>T c.567G>T (p.Leu189=) c.501G>T (p.Leu167=) c.666G>T (p.Leu222=) c.720G>T (p.Leu240=) | |
| 2 | g.98389764C>A | CA347831632 | CNGA3 | c.556C>A (p.Leu186Ile) n.561C>A c.568C>A (p.Leu190Ile) c.502C>A (p.Leu168Ile) c.667C>A (p.Leu223Ile) c.721C>A (p.Leu241Ile) | |
| 2 | g.98389764C>G | CA347831633 | CNGA3 | c.556C>G (p.Leu186Val) n.561C>G c.568C>G (p.Leu190Val) c.502C>G (p.Leu168Val) c.667C>G (p.Leu223Val) c.721C>G (p.Leu241Val) | |
| 2 | g.98389764C>T | CA347831634 | CNGA3 | c.556C>T (p.Leu186Phe) n.561C>T c.568C>T (p.Leu190Phe) c.502C>T (p.Leu168Phe) c.667C>T (p.Leu223Phe) c.721C>T (p.Leu241Phe) | |
| 2 | g.98389765T>A | CA347831635 | CNGA3 | c.557T>A (p.Leu186His) n.562T>A c.569T>A (p.Leu190His) c.503T>A (p.Leu168His) c.668T>A (p.Leu223His) c.722T>A (p.Leu241His) | |
| 2 | g.98389765T>C | CA347831636 | CNGA3 | c.557T>C (p.Leu186Pro) n.562T>C c.569T>C (p.Leu190Pro) c.503T>C (p.Leu168Pro) c.668T>C (p.Leu223Pro) c.722T>C (p.Leu241Pro) | |
| 2 | g.98389765T>G | CA347831637 | CNGA3 | c.557T>G (p.Leu186Arg) n.562T>G c.569T>G (p.Leu190Arg) c.503T>G (p.Leu168Arg) c.668T>G (p.Leu223Arg) c.722T>G (p.Leu241Arg) | |
| 2 | g.98389766T>A | CA427567109 | CNGA3 | c.558T>A (p.Leu186=) n.563T>A c.570T>A (p.Leu190=) c.504T>A (p.Leu168=) c.669T>A (p.Leu223=) c.723T>A (p.Leu241=) | |
| 2 | g.98389766T>C | CA427567110 | CNGA3 | c.558T>C (p.Leu186=) n.563T>C c.570T>C (p.Leu190=) c.504T>C (p.Leu168=) c.669T>C (p.Leu223=) c.723T>C (p.Leu241=) | |
| 2 | g.98389766T>G | CA427567111 | CNGA3 | c.558T>G (p.Leu186=) n.563T>G c.570T>G (p.Leu190=) c.504T>G (p.Leu168=) c.669T>G (p.Leu223=) c.723T>G (p.Leu241=) | |
| 2 | g.98389767A>C | CA347831640 | CNGA3 | c.559A>C (p.Ile187Leu) n.564A>C c.571A>C (p.Ile191Leu) c.505A>C (p.Ile169Leu) c.670A>C (p.Ile224Leu) c.724A>C (p.Ile242Leu) | |
| 2 | g.98389767A>G | CA347831639 | CNGA3 | c.559A>G (p.Ile187Val) n.564A>G c.571A>G (p.Ile191Val) c.505A>G (p.Ile169Val) c.670A>G (p.Ile224Val) c.724A>G (p.Ile242Val) | |
| 2 | g.98389767A>T | CA347831638 | CNGA3 | c.559A>T (p.Ile187Phe) n.564A>T c.571A>T (p.Ile191Phe) c.505A>T (p.Ile169Phe) c.670A>T (p.Ile224Phe) c.724A>T (p.Ile242Phe) | |
| 2 | g.98389768T>A | CA347831641 | CNGA3 | c.560T>A (p.Ile187Asn) n.565T>A c.572T>A (p.Ile191Asn) c.506T>A (p.Ile169Asn) c.671T>A (p.Ile224Asn) c.725T>A (p.Ile242Asn) | |
| 2 | g.98389768T>C | CA347831642 | CNGA3 | c.560T>C (p.Ile187Thr) n.565T>C c.572T>C (p.Ile191Thr) c.506T>C (p.Ile169Thr) c.671T>C (p.Ile224Thr) c.725T>C (p.Ile242Thr) | ClinVar dbSNP |
| 2 | g.98389768T>G | CA347831643 | CNGA3 | c.560T>G (p.Ile187Ser) n.565T>G c.572T>G (p.Ile191Ser) c.506T>G (p.Ile169Ser) c.671T>G (p.Ile224Ser) c.725T>G (p.Ile242Ser) | |
| 2 | g.98389768T= | CA1273416705 | CNGA3 | c.560T= (p.Ile187=) n.565T= c.572T= (p.Ile191=) c.506T= (p.Ile169=) c.671T= (p.Ile224=) c.725T= (p.Ile242=) | |
| 2 | g.98389769T>A | CA427567112 | CNGA3 | c.561T>A (p.Ile187=) n.566T>A c.573T>A (p.Ile191=) c.507T>A (p.Ile169=) c.672T>A (p.Ile224=) c.726T>A (p.Ile242=) | gnomAD v4 |
| 2 | g.98389769T>C | CA427567113 | CNGA3 | c.561T>C (p.Ile187=) n.566T>C c.573T>C (p.Ile191=) c.507T>C (p.Ile169=) c.672T>C (p.Ile224=) c.726T>C (p.Ile242=) | |
| 2 | g.98389769T>G | CA347831644 | CNGA3 | c.561T>G (p.Ile187Met) n.566T>G c.573T>G (p.Ile191Met) c.507T>G (p.Ile169Met) c.672T>G (p.Ile224Met) c.726T>G (p.Ile242Met) | dbSNP |
| 2 | g.98389769T= | CA1273416706 | CNGA3 | c.561T= (p.Ile187=) n.566T= c.573T= (p.Ile191=) c.507T= (p.Ile169=) c.672T= (p.Ile224=) c.726T= (p.Ile242=) | |
| 2 | g.98389770T>A | CA347831645 | CNGA3 | c.562T>A (p.Cys188Ser) n.567T>A c.574T>A (p.Cys192Ser) c.508T>A (p.Cys170Ser) c.673T>A (p.Cys225Ser) c.727T>A (p.Cys243Ser) | |
| 2 | g.98389770T>C | CA347831646 | CNGA3 | c.562T>C (p.Cys188Arg) n.567T>C c.574T>C (p.Cys192Arg) c.508T>C (p.Cys170Arg) c.673T>C (p.Cys225Arg) c.727T>C (p.Cys243Arg) | |
| 2 | g.98389770T>G | CA347831647 | CNGA3 | c.562T>G (p.Cys188Gly) n.567T>G c.574T>G (p.Cys192Gly) c.508T>G (p.Cys170Gly) c.673T>G (p.Cys225Gly) c.727T>G (p.Cys243Gly) |