Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.86667111_86675520del | CA658797120 | CNGB3 | c.339-4415_673del c.-76-4415_259del | ClinVar |
8 | g.86668115G>A | CA371449902 | CNGB3 | c.547C>T (p.His183Tyr) c.133C>T (p.His45Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.86668115G>C | CA371449903 | CNGB3 | c.547C>G (p.His183Asp) c.133C>G (p.His45Asp) | ClinVar dbSNP |
8 | g.86668115G= | CA1799826309 | CNGB3 | c.547C= (p.His183=) c.133C= (p.His45=) | |
8 | g.86668115G>T | CA371449904 | CNGB3 | c.547C>A (p.His183Asn) c.133C>A (p.His45Asn) | |
8 | g.86668116T>A | CA371449905 | CNGB3 | c.546A>T (p.Glu182Asp) c.132A>T (p.Glu44Asp) | |
8 | g.86668116T>C | CA461831135 | CNGB3 | c.546A>G (p.Glu182=) c.132A>G (p.Glu44=) | COSMIC |
8 | g.86668116T>G | CA371449906 | CNGB3 | c.546A>C (p.Glu182Asp) c.132A>C (p.Glu44Asp) | |
8 | g.86668117T>A | CA371449908 | CNGB3 | c.545A>T (p.Glu182Val) c.131A>T (p.Glu44Val) | |
8 | g.86668117T>C | CA371449909 | CNGB3 | c.545A>G (p.Glu182Gly) c.131A>G (p.Glu44Gly) | |
8 | g.86668117T>G | CA371449910 | CNGB3 | c.545A>C (p.Glu182Ala) c.131A>C (p.Glu44Ala) | |
8 | g.86668118C>A | CA371449912 | CNGB3 | c.544G>T (p.Glu182Ter) c.130G>T (p.Glu44Ter) | |
8 | g.86668118C= | CA1799826313 | CNGB3 | c.544G= (p.Glu182=) c.130G= (p.Glu44=) | |
8 | g.86668118C>G | CA371449911 | CNGB3 | c.544G>C (p.Glu182Gln) c.130G>C (p.Glu44Gln) | |
8 | g.86668118C>T | CA180364105 | CNGB3 | c.544G>A (p.Glu182Lys) c.130G>A (p.Glu44Lys) | dbSNP |
8 | g.86668119T>A | CA461831136 | CNGB3 | c.543A>T (p.Thr181=) c.129A>T (p.Thr43=) | |
8 | g.86668119T>C | CA461831137 | CNGB3 | c.543A>G (p.Thr181=) c.129A>G (p.Thr43=) | gnomAD v4 |
8 | g.86668119T>G | CA461831138 | CNGB3 | c.543A>C (p.Thr181=) c.129A>C (p.Thr43=) | |
8 | g.86668120G>A | CA371449913 | CNGB3 | c.542C>T (p.Thr181Ile) c.128C>T (p.Thr43Ile) | ClinVar gnomAD v4 |
8 | g.86668120G>C | CA371449914 | CNGB3 | c.542C>G (p.Thr181Arg) c.128C>G (p.Thr43Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.86668120G= | CA1799826315 | CNGB3 | c.542C= (p.Thr181=) c.128C= (p.Thr43=) | |
8 | g.86668120G>T | CA371449915 | CNGB3 | c.542C>A (p.Thr181Lys) c.128C>A (p.Thr43Lys) | dbSNP |
8 | g.86668121T>A | CA371449916 | CNGB3 | c.541A>T (p.Thr181Ser) c.127A>T (p.Thr43Ser) | |
8 | g.86668121T>C | CA4800353 | CNGB3 | c.541A>G (p.Thr181Ala) c.127A>G (p.Thr43Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.86668121T>G | CA371449917 | CNGB3 | c.541A>C (p.Thr181Pro) c.127A>C (p.Thr43Pro) | |
8 | g.86668121T= | CA1799826319 | CNGB3 | c.541A= (p.Thr181=) c.127A= (p.Thr43=) | |
8 | g.86668122T>A | CA461831139 | CNGB3 | c.540A>T (p.Pro180=) c.126A>T (p.Pro42=) | |
8 | g.86668122T>C | CA461831140 | CNGB3 | c.540A>G (p.Pro180=) c.126A>G (p.Pro42=) | |
8 | g.86668122T>G | CA461831141 | CNGB3 | c.540A>C (p.Pro180=) c.126A>C (p.Pro42=) | gnomAD v4 |
8 | g.86668123G>A | CA246204 | CNGB3 | c.539C>T (p.Pro180Leu) c.125C>T (p.Pro42Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.86668123G>C | CA371449918 | CNGB3 | c.539C>G (p.Pro180Arg) c.125C>G (p.Pro42Arg) | |
8 | g.86668123G= | CA1799826324 | CNGB3 | c.539C= (p.Pro180=) c.125C= (p.Pro42=) | |
8 | g.86668123G>T | CA371449919 | CNGB3 | c.539C>A (p.Pro180Gln) c.125C>A (p.Pro42Gln) | |
8 | g.86668124G>A | CA371449920 | CNGB3 | c.538C>T (p.Pro180Ser) c.124C>T (p.Pro42Ser) | |
8 | g.86668124G>C | CA371449921 | CNGB3 | c.538C>G (p.Pro180Ala) c.124C>G (p.Pro42Ala) | |
8 | g.86668124G>T | CA371449922 | CNGB3 | c.538C>A (p.Pro180Thr) c.124C>A (p.Pro42Thr) | |
8 | g.86668125C>A | CA180364112 | CNGB3 | c.537G>T (p.Lys179Asn) c.123G>T (p.Lys41Asn) | dbSNP |
8 | g.86668125C= | CA1799826326 | CNGB3 | c.537G= (p.Lys179=) c.123G= (p.Lys41=) | |
8 | g.86668125C>G | CA371449923 | CNGB3 | c.537G>C (p.Lys179Asn) c.123G>C (p.Lys41Asn) | |
8 | g.86668125C>T | CA461831142 | CNGB3 | c.537G>A (p.Lys179=) c.123G>A (p.Lys41=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.86668126T>A | CA371449924 | CNGB3 | c.536A>T (p.Lys179Met) c.122A>T (p.Lys41Met) | |
8 | g.86668126T>C | CA371449925 | CNGB3 | c.536A>G (p.Lys179Arg) c.122A>G (p.Lys41Arg) | gnomAD v4 |
8 | g.86668126T>G | CA371449926 | CNGB3 | c.536A>C (p.Lys179Thr) c.122A>C (p.Lys41Thr) | |
8 | g.86668127T>A | CA371449927 | CNGB3 | c.535A>T (p.Lys179Ter) c.121A>T (p.Lys41Ter) | |
8 | g.86668127T>C | CA371449928 | CNGB3 | c.535A>G (p.Lys179Glu) c.121A>G (p.Lys41Glu) | |
8 | g.86668127T>G | CA371449929 | CNGB3 | c.535A>C (p.Lys179Gln) c.121A>C (p.Lys41Gln) | |
8 | g.86668127_86668130delinsTATC | CA1799826330 | CNGB3 | c.532_535delinsGATA (p.Asp178=) c.118_121delinsGATA (p.Asp40=) | |
8 | g.86668128A>C | CA371449930 | CNGB3 | c.534T>G (p.Asp178Glu) c.120T>G (p.Asp40Glu) | |
8 | g.86668128A>G | CA461831143 | CNGB3 | c.534T>C (p.Asp178=) c.120T>C (p.Asp40=) | |
8 | g.86668128A>T | CA371449931 | CNGB3 | c.534T>A (p.Asp178Glu) c.120T>A (p.Asp40Glu) |