Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.86647799_86647804delinsACCTTT | CA1799829961 | CNGB3 | c.987_990+2delinsAAAGGT n.807_810+2delinsAAAGGT c.573_576+2delinsAAAGGT | |
8 | g.86647800C>A | CA371448062 | CNGB3 | c.990+1G>T (n.990+1G>T) n.810+1G>T c.576+1G>T (n.576+1G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.86647800C= | CA1799829964 | CNGB3 | c.990+1G= (n.990+1G=) n.810+1G= c.576+1G= (n.576+1G=) | |
8 | g.86647800C>G | CA4800205 | CNGB3 | c.990+1G>C (n.990+1G>C) n.810+1G>C c.576+1G>C (n.576+1G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.86647800C>T | CA371448063 | CNGB3 | c.990+1G>A (n.990+1G>A) n.810+1G>A c.576+1G>A (n.576+1G>A) | gnomAD v4 |
8 | g.86647800_86647804del | CA1799829966 | CNGB3 | c.987_990+1del n.807_810+1del c.573_576+1del | dbSNP |
8 | g.86647801C>A | CA371448064 | CNGB3 | c.990G>T (p.Lys330Asn) n.810G>T c.576G>T (p.Lys192Asn) | gnomAD v3 gnomAD v4 |
8 | g.86647801C>G | CA371448065 | CNGB3 | c.990G>C (p.Lys330Asn) n.810G>C c.576G>C (p.Lys192Asn) | |
8 | g.86647801C>T | CA461816089 | CNGB3 | c.990G>A (p.Lys330=) n.810G>A c.576G>A (p.Lys192=) | gnomAD v4 |
8 | g.86647802T>A | CA371448066 | CNGB3 | c.989A>T (p.Lys330Met) n.809A>T c.575A>T (p.Lys192Met) | gnomAD v4 |
8 | g.86647802T>C | CA371448067 | CNGB3 | c.989A>G (p.Lys330Arg) n.809A>G c.575A>G (p.Lys192Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.86647802T>G | CA371448068 | CNGB3 | c.989A>C (p.Lys330Thr) n.809A>C c.575A>C (p.Lys192Thr) | |
8 | g.86647802T= | CA1799829972 | CNGB3 | c.989A= (p.Lys330=) n.809A= c.575A= (p.Lys192=) | |
8 | g.86647804del | CA2687825571 | CNGB3 | c.989del (p.Lys330SerfsTer12) n.809del c.575del (p.Lys192SerfsTer12) | gnomAD v4 |
8 | g.86647803T>A | CA371448069 | CNGB3 | c.988A>T (p.Lys330Ter) n.808A>T c.574A>T (p.Lys192Ter) | |
8 | g.86647803T>C | CA371448070 | CNGB3 | c.988A>G (p.Lys330Glu) n.808A>G c.574A>G (p.Lys192Glu) | gnomAD v4 |
8 | g.86647803T>G | CA371448071 | CNGB3 | c.988A>C (p.Lys330Gln) n.808A>C c.574A>C (p.Lys192Gln) | |
8 | g.86647804T>A | CA371448072 | CNGB3 | c.987A>T (p.Leu329Phe) n.807A>T c.573A>T (p.Leu191Phe) | |
8 | g.86647804T>C | CA461816100 | CNGB3 | c.987A>G (p.Leu329=) n.807A>G c.573A>G (p.Leu191=) | |
8 | g.86647804T>G | CA371448073 | CNGB3 | c.987A>C (p.Leu329Phe) n.807A>C c.573A>C (p.Leu191Phe) | |
8 | g.86647805A>C | CA371448074 | CNGB3 | c.986T>G (p.Leu329Ter) n.806T>G c.572T>G (p.Leu191Ter) | |
8 | g.86647805A>G | CA371448076 | CNGB3 | c.986T>C (p.Leu329Ser) n.806T>C c.572T>C (p.Leu191Ser) | gnomAD v4 |
8 | g.86647805A>T | CA371448075 | CNGB3 | c.986T>A (p.Leu329Ter) n.806T>A c.572T>A (p.Leu191Ter) | gnomAD v4 |
8 | g.86647806A= | CA1799829978 | CNGB3 | c.985T= (p.Leu329=) n.805T= c.571T= (p.Leu191=) | |
8 | g.86647806A>C | CA371448077 | CNGB3 | c.985T>G (p.Leu329Val) n.805T>G c.571T>G (p.Leu191Val) | |
8 | g.86647806A>G | CA461816107 | CNGB3 | c.985T>C (p.Leu329=) n.805T>C c.571T>C (p.Leu191=) | gnomAD v4 |
8 | g.86647806A>T | CA371448078 | CNGB3 | c.985T>A (p.Leu329Ile) n.805T>A c.571T>A (p.Leu191Ile) | |
8 | g.86647806_86647807insATGAT | CA1799829981 | CNGB3 | c.984_985insATCAT (p.Leu329IlefsTer3) n.804_805insATCAT c.570_571insATCAT (p.Leu191IlefsTer3) | dbSNP |
8 | g.86647807C>A | CA371448079 | CNGB3 | c.984G>T (p.Met328Ile) n.804G>T c.570G>T (p.Met190Ile) | gnomAD v4 |
8 | g.86647807C>G | CA371448080 | CNGB3 | c.984G>C (p.Met328Ile) n.804G>C c.570G>C (p.Met190Ile) | |
8 | g.86647807C>T | CA371448081 | CNGB3 | c.984G>A (p.Met328Ile) n.804G>A c.570G>A (p.Met190Ile) | gnomAD v4 |
8 | g.86647808A>C | CA371448082 | CNGB3 | c.983T>G (p.Met328Arg) n.803T>G c.569T>G (p.Met190Arg) | |
8 | g.86647808A>G | CA371448083 | CNGB3 | c.983T>C (p.Met328Thr) n.803T>C c.569T>C (p.Met190Thr) | gnomAD v4 |
8 | g.86647808A>T | CA371448084 | CNGB3 | c.983T>A (p.Met328Lys) n.803T>A c.569T>A (p.Met190Lys) | |
8 | g.86647809T>A | CA371448085 | CNGB3 | c.982A>T (p.Met328Leu) n.802A>T c.568A>T (p.Met190Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.86647809T>C | CA180351384 | CNGB3 | c.982A>G (p.Met328Val) n.802A>G c.568A>G (p.Met190Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.86647809T>G | CA371448086 | CNGB3 | c.982A>C (p.Met328Leu) n.802A>C c.568A>C (p.Met190Leu) | |
8 | g.86647809T= | CA1799829983 | CNGB3 | c.982A= (p.Met328=) n.802A= c.568A= (p.Met190=) | |
8 | g.86647810C>A | CA371448087 | CNGB3 | c.981G>T (p.Arg327Ser) n.801G>T c.567G>T (p.Arg189Ser) | |
8 | g.86647810C= | CA1799829988 | CNGB3 | c.981G= (p.Arg327=) n.801G= c.567G= (p.Arg189=) | |
8 | g.86647810C>G | CA4800206 | CNGB3 | c.981G>C (p.Arg327Ser) n.801G>C c.567G>C (p.Arg189Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.86647810C>T | CA461816126 | CNGB3 | c.981G>A (p.Arg327=) n.801G>A c.567G>A (p.Arg189=) | ClinVar |
8 | g.86647811C>A | CA371448088 | CNGB3 | c.980G>T (p.Arg327Met) n.800G>T c.566G>T (p.Arg189Met) | gnomAD v4 COSMIC |
8 | g.86647811C= | CA1799829991 | CNGB3 | c.980G= (p.Arg327=) n.800G= c.566G= (p.Arg189=) | |
8 | g.86647811C>G | CA371448089 | CNGB3 | c.980G>C (p.Arg327Thr) n.800G>C c.566G>C (p.Arg189Thr) | |
8 | g.86647811C>T | CA4800207 | CNGB3 | c.980G>A (p.Arg327Lys) n.800G>A c.566G>A (p.Arg189Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.86647812T>A | CA371448090 | CNGB3 | c.979A>T (p.Arg327Trp) n.799A>T c.565A>T (p.Arg189Trp) | |
8 | g.86647812T>C | CA371448091 | CNGB3 | c.979A>G (p.Arg327Gly) n.799A>G c.565A>G (p.Arg189Gly) | gnomAD v4 |
8 | g.86647812T>G | CA461816132 | CNGB3 | c.979A>C (p.Arg327=) n.799A>C c.565A>C (p.Arg189=) | |
8 | g.86647813A= | CA1799829997 | CNGB3 | c.978T= (p.Asn326=) n.798T= c.564T= (p.Asn188=) |