| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86643811del | CA918307706 | CNGB3 | c.1120del (p.Ala374LeufsTer22) n.940del c.706del (p.Ala236LeufsTer22) | dbSNP |
| 8 | g.86643810C>A | CA371446821 | CNGB3 | c.1119G>T (p.Trp373Cys) n.939G>T c.705G>T (p.Trp235Cys) | |
| 8 | g.86643810C= | CA1799825775 | CNGB3 | c.1119G= (p.Trp373=) n.939G= c.705G= (p.Trp235=) | |
| 8 | g.86643810C>G | CA371446822 | CNGB3 | c.1119G>C (p.Trp373Cys) n.939G>C c.705G>C (p.Trp235Cys) | |
| 8 | g.86643810C>T | CA274480 | CNGB3 | c.1119G>A (p.Trp373Ter) n.939G>A c.705G>A (p.Trp235Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86643811C>A | CA371446823 | CNGB3 | c.1118G>T (p.Trp373Leu) n.938G>T c.704G>T (p.Trp235Leu) | |
| 8 | g.86643811C>G | CA371446825 | CNGB3 | c.1118G>C (p.Trp373Ser) n.938G>C c.704G>C (p.Trp235Ser) | |
| 8 | g.86643811C>T | CA371446824 | CNGB3 | c.1118G>A (p.Trp373Ter) n.938G>A c.704G>A (p.Trp235Ter) | |
| 8 | g.86643812A= | CA1799825780 | CNGB3 | c.1117T= (p.Trp373=) n.937T= c.703T= (p.Trp235=) | |
| 8 | g.86643812A>C | CA371446826 | CNGB3 | c.1117T>G (p.Trp373Gly) n.937T>G c.703T>G (p.Trp235Gly) | |
| 8 | g.86643812A>G | CA4800155 | CNGB3 | c.1117T>C (p.Trp373Arg) n.937T>C c.703T>C (p.Trp235Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643812A>T | CA371446827 | CNGB3 | c.1117T>A (p.Trp373Arg) n.937T>A c.703T>A (p.Trp235Arg) | |
| 8 | g.86643813G>A | CA461815829 | CNGB3 | c.1116C>T (p.Tyr372=) n.936C>T c.702C>T (p.Tyr234=) | gnomAD v4 |
| 8 | g.86643813G>C | CA371446828 | CNGB3 | c.1116C>G (p.Tyr372Ter) n.936C>G c.702C>G (p.Tyr234Ter) | |
| 8 | g.86643813G>T | CA371446829 | CNGB3 | c.1116C>A (p.Tyr372Ter) n.936C>A c.702C>A (p.Tyr234Ter) | |
| 8 | g.86643814T>A | CA371446830 | CNGB3 | c.1115A>T (p.Tyr372Phe) n.935A>T c.701A>T (p.Tyr234Phe) | |
| 8 | g.86643814T>C | CA371446832 | CNGB3 | c.1115A>G (p.Tyr372Cys) n.935A>G c.701A>G (p.Tyr234Cys) | |
| 8 | g.86643814T>G | CA371446831 | CNGB3 | c.1115A>C (p.Tyr372Ser) n.935A>C c.701A>C (p.Tyr234Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86643814T= | CA1799825784 | CNGB3 | c.1115A= (p.Tyr372=) n.935A= c.701A= (p.Tyr234=) | |
| 8 | g.86643815A= | CA1799825786 | CNGB3 | c.1114T= (p.Tyr372=) n.934T= c.700T= (p.Tyr234=) | |
| 8 | g.86643815A>C | CA371446833 | CNGB3 | c.1114T>G (p.Tyr372Asp) n.934T>G c.700T>G (p.Tyr234Asp) | |
| 8 | g.86643815A>G | CA180348226 | CNGB3 | c.1114T>C (p.Tyr372His) n.934T>C c.700T>C (p.Tyr234His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643815A>T | CA371446834 | CNGB3 | c.1114T>A (p.Tyr372Asn) n.934T>A c.700T>A (p.Tyr234Asn) | |
| 8 | g.86643816A>C | CA371446835 | CNGB3 | c.1113T>G (p.Tyr371Ter) n.933T>G c.699T>G (p.Tyr233Ter) | |
| 8 | g.86643816A>G | CA461815830 | CNGB3 | c.1113T>C (p.Tyr371=) n.933T>C c.699T>C (p.Tyr233=) | |
| 8 | g.86643816A>T | CA371446836 | CNGB3 | c.1113T>A (p.Tyr371Ter) n.933T>A c.699T>A (p.Tyr233Ter) | |
| 8 | g.86643817T>A | CA371446837 | CNGB3 | c.1112A>T (p.Tyr371Phe) n.932A>T c.698A>T (p.Tyr233Phe) | |
| 8 | g.86643817T>C | CA371446838 | CNGB3 | c.1112A>G (p.Tyr371Cys) n.932A>G c.698A>G (p.Tyr233Cys) | |
| 8 | g.86643817T>G | CA371446839 | CNGB3 | c.1112A>C (p.Tyr371Ser) n.932A>C c.698A>C (p.Tyr233Ser) | |
| 8 | g.86643818A>C | CA371446840 | CNGB3 | c.1111T>G (p.Tyr371Asp) n.931T>G c.697T>G (p.Tyr233Asp) | |
| 8 | g.86643818A>G | CA371446841 | CNGB3 | c.1111T>C (p.Tyr371His) n.931T>C c.697T>C (p.Tyr233His) | |
| 8 | g.86643818A>T | CA371446842 | CNGB3 | c.1111T>A (p.Tyr371Asn) n.931T>A c.697T>A (p.Tyr233Asn) | |
| 8 | g.86643819_86643820del | CA2500079343 | CNGB3 | c.1110_1111del (p.Tyr371LeufsTer7) n.930_931del c.696_697del (p.Tyr233LeufsTer7) | |
| 8 | g.86643819A= | CA1799825793 | CNGB3 | c.1110T= (p.Val370=) n.930T= c.696T= (p.Val232=) | |
| 8 | g.86643819A>C | CA461815831 | CNGB3 | c.1110T>G (p.Val370=) n.930T>G c.696T>G (p.Val232=) | |
| 8 | g.86643819A>G | CA4800156 | CNGB3 | c.1110T>C (p.Val370=) n.930T>C c.696T>C (p.Val232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86643819A>T | CA461815832 | CNGB3 | c.1110T>A (p.Val370=) n.930T>A c.696T>A (p.Val232=) | dbSNP |
| 8 | g.86643820A>C | CA371446843 | CNGB3 | c.1109T>G (p.Val370Gly) n.929T>G c.695T>G (p.Val232Gly) | |
| 8 | g.86643820A>G | CA371446845 | CNGB3 | c.1109T>C (p.Val370Ala) n.929T>C c.695T>C (p.Val232Ala) | gnomAD v4 |
| 8 | g.86643820A>T | CA371446844 | CNGB3 | c.1109T>A (p.Val370Asp) n.929T>A c.695T>A (p.Val232Asp) | |
| 8 | g.86643821C>A | CA371446846 | CNGB3 | c.1108G>T (p.Val370Phe) n.928G>T c.694G>T (p.Val232Phe) | |
| 8 | g.86643821C>G | CA371446847 | CNGB3 | c.1108G>C (p.Val370Leu) n.928G>C c.694G>C (p.Val232Leu) | |
| 8 | g.86643821C>T | CA371446848 | CNGB3 | c.1108G>A (p.Val370Ile) n.928G>A c.694G>A (p.Val232Ile) | |
| 8 | g.86643822A>C | CA371446849 | CNGB3 | c.1107T>G (p.Cys369Trp) n.927T>G c.693T>G (p.Cys231Trp) | |
| 8 | g.86643822A>G | CA461815833 | CNGB3 | c.1107T>C (p.Cys369=) n.927T>C c.693T>C (p.Cys231=) | |
| 8 | g.86643822A>T | CA371446850 | CNGB3 | c.1107T>A (p.Cys369Ter) n.927T>A c.693T>A (p.Cys231Ter) | ClinVar |
| 8 | g.86643822_86643823insAG | CA2533640018 | CNGB3 | c.1106_1107insCT (p.Val370LeufsTer27) n.926_927insCT c.692_693insCT (p.Val232LeufsTer27) | |
| 8 | g.86643823C>A | CA371446853 | CNGB3 | c.1106G>T (p.Cys369Phe) n.926G>T c.692G>T (p.Cys231Phe) | |
| 8 | g.86643823C>G | CA371446852 | CNGB3 | c.1106G>C (p.Cys369Ser) n.926G>C c.692G>C (p.Cys231Ser) | |
| 8 | g.86643823C>T | CA371446851 | CNGB3 | c.1106G>A (p.Cys369Tyr) n.926G>A c.692G>A (p.Cys231Tyr) | gnomAD v4 |