Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.86667111_86675520del | CA658797120 | CNGB3 | c.339-4415_673del c.-76-4415_259del | ClinVar |
8 | g.86667979_86668025del | CA2739268854 | CNGB3 | c.639_643+42del c.225_229+42del | ClinVar |
8 | g.86668021G>A | CA4800331 | CNGB3 | c.641C>T (p.Thr214Ile) c.227C>T (p.Thr76Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.86668021G>C | CA371449694 | CNGB3 | c.641C>G (p.Thr214Arg) c.227C>G (p.Thr76Arg) | gnomAD v4 |
8 | g.86668021G= | CA1799826173 | CNGB3 | c.641C= (p.Thr214=) c.227C= (p.Thr76=) | |
8 | g.86668021G>T | CA371449695 | CNGB3 | c.641C>A (p.Thr214Lys) c.227C>A (p.Thr76Lys) | |
8 | g.86668022T>A | CA371449698 | CNGB3 | c.640A>T (p.Thr214Ser) c.226A>T (p.Thr76Ser) | |
8 | g.86668022T>C | CA371449697 | CNGB3 | c.640A>G (p.Thr214Ala) c.226A>G (p.Thr76Ala) | gnomAD v4 |
8 | g.86668022T>G | CA371449696 | CNGB3 | c.640A>C (p.Thr214Pro) c.226A>C (p.Thr76Pro) | |
8 | g.86668023G>A | CA461831083 | CNGB3 | c.639C>T (p.Tyr213=) c.225C>T (p.Tyr75=) | |
8 | g.86668023G>C | CA371449699 | CNGB3 | c.639C>G (p.Tyr213Ter) c.225C>G (p.Tyr75Ter) | |
8 | g.86668023G>T | CA371449700 | CNGB3 | c.639C>A (p.Tyr213Ter) c.225C>A (p.Tyr75Ter) | |
8 | g.86668024T>A | CA371449701 | CNGB3 | c.638A>T (p.Tyr213Phe) c.224A>T (p.Tyr75Phe) | |
8 | g.86668024T>C | CA371449702 | CNGB3 | c.638A>G (p.Tyr213Cys) c.224A>G (p.Tyr75Cys) | gnomAD v4 |
8 | g.86668024T>G | CA371449703 | CNGB3 | c.638A>C (p.Tyr213Ser) c.224A>C (p.Tyr75Ser) | COSMIC |
8 | g.86668025A= | CA1799826175 | CNGB3 | c.637T= (p.Tyr213=) c.223T= (p.Tyr75=) | |
8 | g.86668025A>C | CA371449705 | CNGB3 | c.637T>G (p.Tyr213Asp) c.223T>G (p.Tyr75Asp) | |
8 | g.86668025A>G | CA4800332 | CNGB3 | c.637T>C (p.Tyr213His) c.223T>C (p.Tyr75His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.86668025A>T | CA371449704 | CNGB3 | c.637T>A (p.Tyr213Asn) c.223T>A (p.Tyr75Asn) | COSMIC |
8 | g.86668026T>A | CA461831084 | CNGB3 | c.636A>T (p.Ser212=) c.222A>T (p.Ser74=) | gnomAD v4 |
8 | g.86668026T>C | CA461831085 | CNGB3 | c.636A>G (p.Ser212=) c.222A>G (p.Ser74=) | gnomAD v4 |
8 | g.86668026T>G | CA461831086 | CNGB3 | c.636A>C (p.Ser212=) c.222A>C (p.Ser74=) | |
8 | g.86668027G>A | CA371449706 | CNGB3 | c.635C>T (p.Ser212Leu) c.221C>T (p.Ser74Leu) | gnomAD v4 |
8 | g.86668027G>C | CA371449707 | CNGB3 | c.635C>G (p.Ser212Ter) c.221C>G (p.Ser74Ter) | |
8 | g.86668027G>T | CA371449708 | CNGB3 | c.635C>A (p.Ser212Ter) c.221C>A (p.Ser74Ter) | |
8 | g.86668028A>C | CA371449709 | CNGB3 | c.634T>G (p.Ser212Ala) c.220T>G (p.Ser74Ala) | |
8 | g.86668028A>G | CA371449710 | CNGB3 | c.634T>C (p.Ser212Pro) c.220T>C (p.Ser74Pro) | |
8 | g.86668028A>T | CA371449711 | CNGB3 | c.634T>A (p.Ser212Thr) c.220T>A (p.Ser74Thr) | |
8 | g.86668029A= | CA1799826178 | CNGB3 | c.633T= (p.Asp211=) c.219T= (p.Asp73=) | |
8 | g.86668029A>C | CA4800334 | CNGB3 | c.633T>G (p.Asp211Glu) c.219T>G (p.Asp73Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.86668029A>G | CA4800333 | CNGB3 | c.633T>C (p.Asp211=) c.219T>C (p.Asp73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.86668029A>T | CA371449712 | CNGB3 | c.633T>A (p.Asp211Glu) c.219T>A (p.Asp73Glu) | dbSNP |
8 | g.86668030T>A | CA371449713 | CNGB3 | c.632A>T (p.Asp211Val) c.218A>T (p.Asp73Val) | |
8 | g.86668030T>C | CA371449714 | CNGB3 | c.632A>G (p.Asp211Gly) c.218A>G (p.Asp73Gly) | |
8 | g.86668030T>G | CA371449715 | CNGB3 | c.632A>C (p.Asp211Ala) c.218A>C (p.Asp73Ala) | gnomAD v4 |
8 | g.86668031C>A | CA371449716 | CNGB3 | c.631G>T (p.Asp211Tyr) c.217G>T (p.Asp73Tyr) | gnomAD v4 |
8 | g.86668031C>G | CA371449717 | CNGB3 | c.631G>C (p.Asp211His) c.217G>C (p.Asp73His) | |
8 | g.86668031C>T | CA371449718 | CNGB3 | c.631G>A (p.Asp211Asn) c.217G>A (p.Asp73Asn) | |
8 | g.86668032T>A | CA461831088 | CNGB3 | c.630A>T (p.Ile210=) c.216A>T (p.Ile72=) | |
8 | g.86668032T>C | CA371449719 | CNGB3 | c.630A>G (p.Ile210Met) c.216A>G (p.Ile72Met) | |
8 | g.86668032T>G | CA461831089 | CNGB3 | c.630A>C (p.Ile210=) c.216A>C (p.Ile72=) | gnomAD v4 |
8 | g.86668033A= | CA1799826182 | CNGB3 | c.629T= (p.Ile210=) c.215T= (p.Ile72=) | |
8 | g.86668033A>C | CA371449720 | CNGB3 | c.629T>G (p.Ile210Arg) c.215T>G (p.Ile72Arg) | |
8 | g.86668033A>G | CA371449721 | CNGB3 | c.629T>C (p.Ile210Thr) c.215T>C (p.Ile72Thr) | ClinVar gnomAD v4 |
8 | g.86668033A>T | CA371449722 | CNGB3 | c.629T>A (p.Ile210Lys) c.215T>A (p.Ile72Lys) | dbSNP |
8 | g.86668034T>A | CA371449725 | CNGB3 | c.628A>T (p.Ile210Leu) c.214A>T (p.Ile72Leu) | |
8 | g.86668034T>C | CA371449724 | CNGB3 | c.628A>G (p.Ile210Val) c.214A>G (p.Ile72Val) | |
8 | g.86668034T>G | CA371449723 | CNGB3 | c.628A>C (p.Ile210Leu) c.214A>C (p.Ile72Leu) | |
8 | g.86668035G>A | CA461831090 | CNGB3 | c.627C>T (p.Ser209=) c.213C>T (p.Ser71=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.86668035G>C | CA371449726 | CNGB3 | c.627C>G (p.Ser209Arg) c.213C>G (p.Ser71Arg) |