SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86667111_86675520del | CA658797120 | CNGB3 | c.339-4415_673del c.-76-4415_259del | ClinVar |
| 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) | |
| 8 | g.86668131_86668133del | CA180364114 | CNGB3 | c.532_534del (p.Asp178del) c.118_120del (p.Asp40del) | dbSNP |
| 8 | g.86668129T>A | CA371449932 | CNGB3 | c.533A>T (p.Asp178Val) c.119A>T (p.Asp40Val) | |
| 8 | g.86668129T>C | CA371449933 | CNGB3 | c.533A>G (p.Asp178Gly) c.119A>G (p.Asp40Gly) | gnomAD v4 |
| 8 | g.86668129T>G | CA371449934 | CNGB3 | c.533A>C (p.Asp178Ala) c.119A>C (p.Asp40Ala) | |
| 8 | g.86668130C>A | CA371449937 | CNGB3 | c.532G>T (p.Asp178Tyr) c.118G>T (p.Asp40Tyr) | |
| 8 | g.86668130C>G | CA371449936 | CNGB3 | c.532G>C (p.Asp178His) c.118G>C (p.Asp40His) | |
| 8 | g.86668130C>T | CA371449935 | CNGB3 | c.532G>A (p.Asp178Asn) c.118G>A (p.Asp40Asn) | |
| 8 | g.86668131A= | CA1799826332 | CNGB3 | c.531T= (p.Asp177=) c.117T= (p.Asp39=) | |
| 8 | g.86668131A>C | CA371449938 | CNGB3 | c.531T>G (p.Asp177Glu) c.117T>G (p.Asp39Glu) | |
| 8 | g.86668131A>G | CA4800354 | CNGB3 | c.531T>C (p.Asp177=) c.117T>C (p.Asp39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668131A>T | CA371449939 | CNGB3 | c.531T>A (p.Asp177Glu) c.117T>A (p.Asp39Glu) | gnomAD v4 |
| 8 | g.86668132T>A | CA371449940 | CNGB3 | c.530A>T (p.Asp177Val) c.116A>T (p.Asp39Val) | |
| 8 | g.86668132T>C | CA371449941 | CNGB3 | c.530A>G (p.Asp177Gly) c.116A>G (p.Asp39Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668132T>G | CA371449942 | CNGB3 | c.530A>C (p.Asp177Ala) c.116A>C (p.Asp39Ala) | |
| 8 | g.86668132T= | CA1799826335 | CNGB3 | c.530A= (p.Asp177=) c.116A= (p.Asp39=) | |
| 8 | g.86668133C>A | CA371449943 | CNGB3 | c.529G>T (p.Asp177Tyr) c.115G>T (p.Asp39Tyr) | |
| 8 | g.86668133C= | CA1799826338 | CNGB3 | c.529G= (p.Asp177=) c.115G= (p.Asp39=) | |
| 8 | g.86668133C>G | CA4800355 | CNGB3 | c.529G>C (p.Asp177His) c.115G>C (p.Asp39His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668133C>T | CA4800356 | CNGB3 | c.529G>A (p.Asp177Asn) c.115G>A (p.Asp39Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668134G>A | CA4800357 | CNGB3 | c.528C>T (p.Ser176=) c.114C>T (p.Ser38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86668134G>C | CA371449944 | CNGB3 | c.528C>G (p.Ser176Arg) c.114C>G (p.Ser38Arg) | |
| 8 | g.86668134G= | CA1799826342 | CNGB3 | c.528C= (p.Ser176=) c.114C= (p.Ser38=) | |
| 8 | g.86668134G>T | CA371449945 | CNGB3 | c.528C>A (p.Ser176Arg) c.114C>A (p.Ser38Arg) | |
| 8 | g.86668135C>A | CA371449946 | CNGB3 | c.527G>T (p.Ser176Ile) c.113G>T (p.Ser38Ile) | |
| 8 | g.86668135C= | CA1799826345 | CNGB3 | c.527G= (p.Ser176=) c.113G= (p.Ser38=) | |
| 8 | g.86668135C>G | CA371449947 | CNGB3 | c.527G>C (p.Ser176Thr) c.113G>C (p.Ser38Thr) | |
| 8 | g.86668135C>T | CA4800358 | CNGB3 | c.527G>A (p.Ser176Asn) c.113G>A (p.Ser38Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.86668136T>A | CA371449950 | CNGB3 | c.526A>T (p.Ser176Cys) c.112A>T (p.Ser38Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668136T>C | CA371449948 | CNGB3 | c.526A>G (p.Ser176Gly) c.112A>G (p.Ser38Gly) | |
| 8 | g.86668136T>G | CA371449949 | CNGB3 | c.526A>C (p.Ser176Arg) c.112A>C (p.Ser38Arg) | |
| 8 | g.86668136T= | CA1799826347 | CNGB3 | c.526A= (p.Ser176=) c.112A= (p.Ser38=) | |
| 8 | g.86668137T>A | CA180364140 | CNGB3 | c.525A>T (p.Glu175Asp) c.111A>T (p.Glu37Asp) | dbSNP |
| 8 | g.86668137T>C | CA461831144 | CNGB3 | c.525A>G (p.Glu175=) c.111A>G (p.Glu37=) | |
| 8 | g.86668137T>G | CA371449951 | CNGB3 | c.525A>C (p.Glu175Asp) c.111A>C (p.Glu37Asp) | |
| 8 | g.86668137T= | CA1799826348 | CNGB3 | c.525A= (p.Glu175=) c.111A= (p.Glu37=) | |
| 8 | g.86668138T>A | CA371449952 | CNGB3 | c.524A>T (p.Glu175Val) c.110A>T (p.Glu37Val) | |
| 8 | g.86668138T>C | CA180364141 | CNGB3 | c.524A>G (p.Glu175Gly) c.110A>G (p.Glu37Gly) | dbSNP gnomAD v4 |
| 8 | g.86668138T>G | CA371449953 | CNGB3 | c.524A>C (p.Glu175Ala) c.110A>C (p.Glu37Ala) | |
| 8 | g.86668138T= | CA1799826350 | CNGB3 | c.524A= (p.Glu175=) c.110A= (p.Glu37=) | |
| 8 | g.86668139C>A | CA371449954 | CNGB3 | c.523G>T (p.Glu175Ter) c.109G>T (p.Glu37Ter) | COSMIC |
| 8 | g.86668139C>G | CA371449955 | CNGB3 | c.523G>C (p.Glu175Gln) c.109G>C (p.Glu37Gln) | |
| 8 | g.86668139C>T | CA371449956 | CNGB3 | c.523G>A (p.Glu175Lys) c.109G>A (p.Glu37Lys) | |
| 8 | g.86668140T>A | CA371449957 | CNGB3 | c.522A>T (p.Lys174Asn) c.108A>T (p.Lys36Asn) | |
| 8 | g.86668140T>C | CA461831145 | CNGB3 | c.522A>G (p.Lys174=) c.108A>G (p.Lys36=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86668140T>G | CA371449958 | CNGB3 | c.522A>C (p.Lys174Asn) c.108A>C (p.Lys36Asn) | |
| 8 | g.86668140T= | CA1799826353 | CNGB3 | c.522A= (p.Lys174=) c.108A= (p.Lys36=) | |
| 8 | g.86668141T>A | CA371449961 | CNGB3 | c.521A>T (p.Lys174Ile) c.107A>T (p.Lys36Ile) | |
| 8 | g.86668141T>C | CA371449959 | CNGB3 | c.521A>G (p.Lys174Arg) c.107A>G (p.Lys36Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668141T>G | CA371449960 | CNGB3 | c.521A>C (p.Lys174Thr) c.107A>C (p.Lys36Thr) | |
| 8 | g.86668141T= | CA1799826356 | CNGB3 | c.521A= (p.Lys174=) c.107A= (p.Lys36=) | |
| 8 | g.86668142T>A | CA371449962 | CNGB3 | c.520A>T (p.Lys174Ter) c.106A>T (p.Lys36Ter) | |
| 8 | g.86668142T>C | CA180364142 | CNGB3 | c.520A>G (p.Lys174Glu) c.106A>G (p.Lys36Glu) | dbSNP gnomAD v4 |
| 8 | g.86668142T>G | CA371449963 | CNGB3 | c.520A>C (p.Lys174Gln) c.106A>C (p.Lys36Gln) | |
| 8 | g.86668142T= | CA1799826359 | CNGB3 | c.520A= (p.Lys174=) c.106A= (p.Lys36=) | |
| 8 | g.86668143T>A | CA461831146 | CNGB3 | c.519A>T (p.Val173=) c.105A>T (p.Val35=) | |
| 8 | g.86668143T>C | CA461831147 | CNGB3 | c.519A>G (p.Val173=) c.105A>G (p.Val35=) | gnomAD v4 |
| 8 | g.86668143T>G | CA461831148 | CNGB3 | c.519A>C (p.Val173=) c.105A>C (p.Val35=) | |
| 8 | g.86668144A= | CA1799826361 | CNGB3 | c.518T= (p.Val173=) c.104T= (p.Val35=) | |
| 8 | g.86668144A>C | CA371449964 | CNGB3 | c.518T>G (p.Val173Gly) c.104T>G (p.Val35Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86668144A>G | CA371449965 | CNGB3 | c.518T>C (p.Val173Ala) c.104T>C (p.Val35Ala) | |
| 8 | g.86668144A>T | CA371449966 | CNGB3 | c.518T>A (p.Val173Glu) c.104T>A (p.Val35Glu) | |
| 8 | g.86668145C>A | CA371449967 | CNGB3 | c.517G>T (p.Val173Leu) c.103G>T (p.Val35Leu) | |
| 8 | g.86668145C>G | CA371449968 | CNGB3 | c.517G>C (p.Val173Leu) c.103G>C (p.Val35Leu) | |
| 8 | g.86668145C>T | CA371449969 | CNGB3 | c.517G>A (p.Val173Ile) c.103G>A (p.Val35Ile) | |
| 8 | g.86668146T>A | CA461831149 | CNGB3 | c.516A>T (p.Pro172=) c.102A>T (p.Pro34=) | |
| 8 | g.86668146T>C | CA461831150 | CNGB3 | c.516A>G (p.Pro172=) c.102A>G (p.Pro34=) | |
| 8 | g.86668146T>G | CA461831151 | CNGB3 | c.516A>C (p.Pro172=) c.102A>C (p.Pro34=) | |
| 8 | g.86668147G>A | CA371449970 | CNGB3 | c.515C>T (p.Pro172Leu) c.101C>T (p.Pro34Leu) | |
| 8 | g.86668147G>C | CA371449971 | CNGB3 | c.515C>G (p.Pro172Arg) c.101C>G (p.Pro34Arg) | |
| 8 | g.86668147G>T | CA371449972 | CNGB3 | c.515C>A (p.Pro172Gln) c.101C>A (p.Pro34Gln) | |
| 8 | g.86668148G>A | CA371449973 | CNGB3 | c.514C>T (p.Pro172Ser) c.100C>T (p.Pro34Ser) | dbSNP gnomAD v4 |
| 8 | g.86668148G>C | CA371449974 | CNGB3 | c.514C>G (p.Pro172Ala) c.100C>G (p.Pro34Ala) | |
| 8 | g.86668148G= | CA1799826364 | CNGB3 | c.514C= (p.Pro172=) c.100C= (p.Pro34=) | |
| 8 | g.86668148G>T | CA4800359 | CNGB3 | c.514C>A (p.Pro172Thr) c.100C>A (p.Pro34Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86668149T>A | CA461831153 | CNGB3 | c.513A>T (p.Pro171=) c.99A>T (p.Pro33=) | |
| 8 | g.86668149T>C | CA461831154 | CNGB3 | c.513A>G (p.Pro171=) c.99A>G (p.Pro33=) | ClinVar |
| 8 | g.86668149T>G | CA461831152 | CNGB3 | c.513A>C (p.Pro171=) c.99A>C (p.Pro33=) | |
| 8 | g.86668150G>A | CA371449975 | CNGB3 | c.512C>T (p.Pro171Leu) c.98C>T (p.Pro33Leu) | gnomAD v4 |
| 8 | g.86668150G>C | CA371449976 | CNGB3 | c.512C>G (p.Pro171Arg) c.98C>G (p.Pro33Arg) | |
| 8 | g.86668150G>T | CA371449977 | CNGB3 | c.512C>A (p.Pro171Gln) c.98C>A (p.Pro33Gln) | |
| 8 | g.86668151G>A | CA371449978 | CNGB3 | c.511C>T (p.Pro171Ser) c.97C>T (p.Pro33Ser) | |
| 8 | g.86668151G>C | CA371449979 | CNGB3 | c.511C>G (p.Pro171Ala) c.97C>G (p.Pro33Ala) | COSMIC |
| 8 | g.86668151G= | CA1799826369 | CNGB3 | c.511C= (p.Pro171=) c.97C= (p.Pro33=) | |
| 8 | g.86668151G>T | CA371449980 | CNGB3 | c.511C>A (p.Pro171Thr) c.97C>A (p.Pro33Thr) | dbSNP |
| 8 | g.86668152T>A | CA461831155 | CNGB3 | c.510A>T (p.Val170=) c.96A>T (p.Val32=) | |
| 8 | g.86668152T>C | CA461831156 | CNGB3 | c.510A>G (p.Val170=) c.96A>G (p.Val32=) | |
| 8 | g.86668152T>G | CA461831157 | CNGB3 | c.510A>C (p.Val170=) c.96A>C (p.Val32=) | |
| 8 | g.86668153A>C | CA371449981 | CNGB3 | c.509T>G (p.Val170Gly) c.95T>G (p.Val32Gly) | |
| 8 | g.86668153A>G | CA371449982 | CNGB3 | c.509T>C (p.Val170Ala) c.95T>C (p.Val32Ala) | |
| 8 | g.86668153A>T | CA371449983 | CNGB3 | c.509T>A (p.Val170Glu) c.95T>A (p.Val32Glu) | gnomAD v4 |
| 8 | g.86668154C>A | CA4800360 | CNGB3 | c.508G>T (p.Val170Leu) c.94G>T (p.Val32Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86668154C= | CA1799826370 | CNGB3 | c.508G= (p.Val170=) c.94G= (p.Val32=) | |
| 8 | g.86668154C>G | CA371449984 | CNGB3 | c.508G>C (p.Val170Leu) c.94G>C (p.Val32Leu) | |
| 8 | g.86668154C>T | CA371449985 | CNGB3 | c.508G>A (p.Val170Ile) c.94G>A (p.Val32Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668155A>C | CA461831158 | CNGB3 | c.507T>G (p.Ala169=) c.93T>G (p.Ala31=) | |
| 8 | g.86668155A>G | CA461831159 | CNGB3 | c.507T>C (p.Ala169=) c.93T>C (p.Ala31=) | |
| 8 | g.86668155A>T | CA461831160 | CNGB3 | c.507T>A (p.Ala169=) c.93T>A (p.Ala31=) | |
| 8 | g.86668156G>A | CA371449987 | CNGB3 | c.506C>T (p.Ala169Val) c.92C>T (p.Ala31Val) | |
| 8 | g.86668156G>C | CA371449988 | CNGB3 | c.506C>G (p.Ala169Gly) c.92C>G (p.Ala31Gly) | |
| 8 | g.86668156G>T | CA371449986 | CNGB3 | c.506C>A (p.Ala169Asp) c.92C>A (p.Ala31Asp) | ClinVar dbSNP |
| 8 | g.86668157C>A | CA371449989 | CNGB3 | c.505G>T (p.Ala169Ser) c.91G>T (p.Ala31Ser) | |
| 8 | g.86668157C= | CA1799826373 | CNGB3 | c.505G= (p.Ala169=) c.91G= (p.Ala31=) | |
| 8 | g.86668157C>G | CA371449990 | CNGB3 | c.505G>C (p.Ala169Pro) c.91G>C (p.Ala31Pro) | |
| 8 | g.86668157C>T | CA371449991 | CNGB3 | c.505G>A (p.Ala169Thr) c.91G>A (p.Ala31Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86668158dup | CA2687827246 | CNGB3 | c.505dup (p.Ala169GlyfsTer10) c.91dup (p.Ala31GlyfsTer10) | gnomAD v4 |
| 8 | g.86668158C>A | CA4800362 | CNGB3 | c.504G>T (p.Thr168=) c.90G>T (p.Thr30=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86668158C= | CA1799826377 | CNGB3 | c.504G= (p.Thr168=) c.90G= (p.Thr30=) | |
| 8 | g.86668158C>G | CA461831161 | CNGB3 | c.504G>C (p.Thr168=) c.90G>C (p.Thr30=) | |
| 8 | g.86668158C>T | CA4800361 | CNGB3 | c.504G>A (p.Thr168=) c.90G>A (p.Thr30=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86668159G>A | CA4800363 | CNGB3 | c.503C>T (p.Thr168Met) c.89C>T (p.Thr30Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86668159G>C | CA371449993 | CNGB3 | c.503C>G (p.Thr168Arg) c.89C>G (p.Thr30Arg) | |
| 8 | g.86668159G= | CA1799826383 | CNGB3 | c.503C= (p.Thr168=) c.89C= (p.Thr30=) | |
| 8 | g.86668159G>T | CA371449992 | CNGB3 | c.503C>A (p.Thr168Lys) c.89C>A (p.Thr30Lys) | |
| 8 | g.86668160T>A | CA371449994 | CNGB3 | c.502A>T (p.Thr168Ser) c.88A>T (p.Thr30Ser) | dbSNP gnomAD v4 |
| 8 | g.86668160T>C | CA371449995 | CNGB3 | c.502A>G (p.Thr168Ala) c.88A>G (p.Thr30Ala) | |
| 8 | g.86668160T>G | CA371449996 | CNGB3 | c.502A>C (p.Thr168Pro) c.88A>C (p.Thr30Pro) | gnomAD v4 |
| 8 | g.86668160T= | CA1799826387 | CNGB3 | c.502A= (p.Thr168=) c.88A= (p.Thr30=) | |
| 8 | g.86668160_86668175delinsTGGGCTTTGCTTCATA | CA1799826385 | CNGB3 | c.494-7_502delinsTATGAAGCAAAGCCCA c.80-7_88delinsTATGAAGCAAAGCCCA | |
| 8 | g.86668161G>A | CA461831162 | CNGB3 | c.501C>T (p.Pro167=) c.87C>T (p.Pro29=) | |
| 8 | g.86668161G>C | CA461831163 | CNGB3 | c.501C>G (p.Pro167=) c.87C>G (p.Pro29=) | gnomAD v4 |
| 8 | g.86668161G>T | CA461831164 | CNGB3 | c.501C>A (p.Pro167=) c.87C>A (p.Pro29=) | |
| 8 | g.86668164_86668178del | CA1116218066 | CNGB3 | c.494-7_501del c.80-7_87del | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86668162G>A | CA4800364 | CNGB3 | c.500C>T (p.Pro167Leu) c.86C>T (p.Pro29Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668162G>C | CA371449997 | CNGB3 | c.500C>G (p.Pro167Arg) c.86C>G (p.Pro29Arg) | |
| 8 | g.86668162G= | CA1799826389 | CNGB3 | c.500C= (p.Pro167=) c.86C= (p.Pro29=) | |
| 8 | g.86668162G>T | CA371449998 | CNGB3 | c.500C>A (p.Pro167His) c.86C>A (p.Pro29His) | COSMIC |
| 8 | g.86668163G>A | CA371449999 | CNGB3 | c.499C>T (p.Pro167Ser) c.85C>T (p.Pro29Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668163G>C | CA371450001 | CNGB3 | c.499C>G (p.Pro167Ala) c.85C>G (p.Pro29Ala) | |
| 8 | g.86668163G= | CA1799826391 | CNGB3 | c.499C= (p.Pro167=) c.85C= (p.Pro29=) | |
| 8 | g.86668163G>T | CA371450000 | CNGB3 | c.499C>A (p.Pro167Thr) c.85C>A (p.Pro29Thr) | |
| 8 | g.86668164C>A | CA371450002 | CNGB3 | c.498G>T (p.Lys166Asn) n.259G>T c.84G>T (p.Lys28Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668164C= | CA1799826393 | CNGB3 | c.498G= (p.Lys166=) n.259G= c.84G= (p.Lys28=) | |
| 8 | g.86668164C>G | CA371450003 | CNGB3 | c.498G>C (p.Lys166Asn) n.259G>C c.84G>C (p.Lys28Asn) | gnomAD v4 |
| 8 | g.86668164C>T | CA461831165 | CNGB3 | c.498G>A (p.Lys166=) n.259G>A c.84G>A (p.Lys28=) | COSMIC |
| 8 | g.86668164_86668165insCTG | CA582920885 | CNGB3 | c.497_498insCAG (p.Lys166delinsAsnArg) n.258_259insCAG c.83_84insCAG (p.Lys28delinsAsnArg) | gnomAD v2 |
| 8 | g.86668165T>A | CA371450004 | CNGB3 | c.497A>T (p.Lys166Met) n.258A>T c.83A>T (p.Lys28Met) | |
| 8 | g.86668165T>C | CA371450006 | CNGB3 | c.497A>G (p.Lys166Arg) n.258A>G c.83A>G (p.Lys28Arg) | |
| 8 | g.86668165T>G | CA371450005 | CNGB3 | c.497A>C (p.Lys166Thr) n.258A>C c.83A>C (p.Lys28Thr) | |
| 8 | g.86668166T>A | CA371450007 | CNGB3 | c.496A>T (p.Lys166Ter) n.257A>T c.82A>T (p.Lys28Ter) | |
| 8 | g.86668166T>C | CA371450009 | CNGB3 | c.496A>G (p.Lys166Glu) n.257A>G c.82A>G (p.Lys28Glu) | |
| 8 | g.86668166T>G | CA371450008 | CNGB3 | c.496A>C (p.Lys166Gln) n.257A>C c.82A>C (p.Lys28Gln) | |
| 8 | g.86668167T>A | CA461831166 | CNGB3 | c.495A>T (p.Ala165=) n.256A>T c.81A>T (p.Ala27=) | |
| 8 | g.86668167T>C | CA461831167 | CNGB3 | c.495A>G (p.Ala165=) n.256A>G c.81A>G (p.Ala27=) | |
| 8 | g.86668167T>G | CA461831168 | CNGB3 | c.495A>C (p.Ala165=) n.256A>C c.81A>C (p.Ala27=) | gnomAD v4 |
| 8 | g.86668167_86668168insA | CA2781156233 | CNGB3 | c.494_495insT (p.Pro167AlafsTer12) n.255_256insT c.80_81insT (p.Pro29AlafsTer12) | |
| 8 | g.86668168G>A | CA371450010 | CNGB3 | c.494C>T (p.Ala165Val) n.255C>T c.80C>T (p.Ala27Val) | |
| 8 | g.86668168G>C | CA371450011 | CNGB3 | c.494C>G (p.Ala165Gly) n.255C>G c.80C>G (p.Ala27Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668168G= | CA1799826399 | CNGB3 | c.494C= (p.Ala165=) n.255C= c.80C= (p.Ala27=) | |
| 8 | g.86668168G>T | CA180364181 | CNGB3 | c.494C>A (p.Ala165Glu) n.255C>A c.80C>A (p.Ala27Glu) | dbSNP gnomAD v4 COSMIC |
| 8 | g.86668169C>A | CA371450012 | CNGB3 | c.494-1G>T (n.494-1G>T) n.255-1G>T c.80-1G>T (n.80-1G>T) | |
| 8 | g.86668169C>G | CA371450014 | CNGB3 | c.494-1G>C (n.494-1G>C) n.255-1G>C c.80-1G>C (n.80-1G>C) | |
| 8 | g.86668169C>T | CA371450013 | CNGB3 | c.494-1G>A (n.494-1G>A) n.255-1G>A c.80-1G>A (n.80-1G>A) | gnomAD v4 |
| 8 | g.86668169_86668172del | CA2740958895 | CNGB3 | c.494-4_494-1del (n.494-4_494-1del) n.255-4_255-1del c.80-4_80-1del (n.80-4_80-1del) | |
| 8 | g.86668170T>A | CA371450015 | CNGB3 | c.494-2A>T (n.494-2A>T) n.255-2A>T c.80-2A>T (n.80-2A>T) | ClinVar dbSNP |
| 8 | g.86668170T>C | CA371450016 | CNGB3 | c.494-2A>G (n.494-2A>G) n.255-2A>G c.80-2A>G (n.80-2A>G) | gnomAD v4 |
| 8 | g.86668170T>G | CA371450017 | CNGB3 | c.494-2A>C (n.494-2A>C) n.255-2A>C c.80-2A>C (n.80-2A>C) | |
| 8 | g.86668170T= | CA1799826403 | CNGB3 | c.494-2A= (n.494-2A=) n.255-2A= c.80-2A= (n.80-2A=) | |
| 8 | g.86668172_86668174del | CA2781156234 | CNGB3 | c.494-5_494-3del (n.494-5_494-3del) n.255-5_255-3del c.80-5_80-3del (n.80-5_80-3del) | |
| 8 | g.86668172C>A | CA582920886 | CNGB3 | c.494-4G>T (n.494-4G>T) n.255-4G>T c.80-4G>T (n.80-4G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668172C= | CA1799826405 | CNGB3 | c.494-4G= (n.494-4G=) n.255-4G= c.80-4G= (n.80-4G=) | |
| 8 | g.86668172C>T | CA2573143415 | CNGB3 | c.494-4G>A (n.494-4G>A) n.255-4G>A c.80-4G>A (n.80-4G>A) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86668173A>G | CA2687827247 | CNGB3 | c.494-5T>C (n.494-5T>C) n.255-5T>C c.80-5T>C (n.80-5T>C) | ClinVar gnomAD v4 |
| 8 | g.86668173A>T | CA2687827248 | CNGB3 | c.494-5T>A (n.494-5T>A) n.255-5T>A c.80-5T>A (n.80-5T>A) | gnomAD v4 |
| 8 | g.86668173dup | CA2781156235 | CNGB3 | c.494-5dup (n.494-5dup) n.255-5dup c.80-5dup (n.80-5dup) | |
| 8 | g.86668174T>A | CA582920887 | CNGB3 | c.494-6A>T (n.494-6A>T) n.255-6A>T c.80-6A>T (n.80-6A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668174T>C | CA4800365 | CNGB3 | c.494-6A>G (n.494-6A>G) n.255-6A>G c.80-6A>G (n.80-6A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668174T= | CA1799826408 | CNGB3 | c.494-6A= (n.494-6A=) n.255-6A= c.80-6A= (n.80-6A=) | |
| 8 | g.86668174_86668175insTAAAAAAAA | CA2781156236 | CNGB3 | c.494-7_494-6insTTTTTTTTA (n.494-7_494-6insTTTTTTTTA) n.255-7_255-6insTTTTTTTTA c.80-7_80-6insTTTTTTTTA (n.80-7_80-6insTTTTTTTTA) | |
| 8 | g.86668174_86668175insTAAAAAAAAAAA | CA2781156237 | CNGB3 | c.494-7_494-6insTTTTTTTTTTTA (n.494-7_494-6insTTTTTTTTTTTA) n.255-7_255-6insTTTTTTTTTTTA c.80-7_80-6insTTTTTTTTTTTA (n.80-7_80-6insTTTTTTTTTTTA) | |
| 8 | g.86668175A= | CA1799826411 | CNGB3 | c.494-7T= (n.494-7T=) n.255-7T= c.80-7T= (n.80-7T=) | |
| 8 | g.86668175A>G | CA2580078984 | CNGB3 | c.494-7T>C (n.494-7T>C) n.255-7T>C c.80-7T>C (n.80-7T>C) | ClinVar gnomAD v4 |
| 8 | g.86668175A>T | CA2687827249 | CNGB3 | c.494-7T>A (n.494-7T>A) n.255-7T>A c.80-7T>A (n.80-7T>A) | gnomAD v4 |
| 8 | g.86668175_86668178delinsAGGG | CA1799826410 | CNGB3 | c.494-10_494-7delinsCCCT (n.494-10_494-7delinsCCCT) n.255-10_255-7delinsCCCT c.80-10_80-7delinsCCCT (n.80-10_80-7delinsCCCT) | |
| 8 | g.86668176G>A | CA582920889 | CNGB3 | c.494-8C>T (n.494-8C>T) n.255-8C>T c.80-8C>T (n.80-8C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668176G= | CA1799826418 | CNGB3 | c.494-8C= (n.494-8C=) n.255-8C= c.80-8C= (n.80-8C=) | |
| 8 | g.86668176G>T | CA2601509775 | CNGB3 | c.494-8C>A (n.494-8C>A) n.255-8C>A c.80-8C>A (n.80-8C>A) | gnomAD v3 gnomAD v4 |
| 8 | g.86668176_86668178del | CA582920888 | CNGB3 | c.494-10_494-8del (n.494-10_494-8del) n.255-10_255-8del c.80-10_80-8del (n.80-10_80-8del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668178dup | CA4800366 | CNGB3 | c.494-8dup (n.494-8dup) n.255-8dup c.80-8dup (n.80-8dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668176_86668177insA | CA2687827250 | CNGB3 | c.494-9_494-8insT (n.494-9_494-8insT) n.255-9_255-8insT c.80-9_80-8insT (n.80-9_80-8insT) | gnomAD v4 |
| 8 | g.86668176_86668177insACA | CA2781156238 | CNGB3 | c.494-9_494-8insTGT (n.494-9_494-8insTGT) n.255-9_255-8insTGT c.80-9_80-8insTGT (n.80-9_80-8insTGT) | |
| 8 | g.86668177G>A | CA582920890 | CNGB3 | c.494-9C>T (n.494-9C>T) n.255-9C>T c.80-9C>T (n.80-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668177G= | CA1799826420 | CNGB3 | c.494-9C= (n.494-9C=) n.255-9C= c.80-9C= (n.80-9C=) | |
| 8 | g.86668177_86668195del | CA2781156239 | CNGB3 | c.494-27_494-9del (n.494-27_494-9del) n.255-27_255-9del c.80-27_80-9del (n.80-27_80-9del) | |
| 8 | g.86668177_86668178insA | CA1116218080 | CNGB3 | c.494-10_494-9insT (n.494-10_494-9insT) n.255-10_255-9insT c.80-10_80-9insT (n.80-10_80-9insT) | gnomAD v3 gnomAD v4 |
| 8 | g.86668177_86668178insAA | CA2687827251 | CNGB3 | c.494-10_494-9insTT (n.494-10_494-9insTT) n.255-10_255-9insTT c.80-10_80-9insTT (n.80-10_80-9insTT) | gnomAD v4 |
| 8 | g.86668178G>A | CA180364190 | CNGB3 | c.494-10C>T (n.494-10C>T) n.255-10C>T c.80-10C>T (n.80-10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668178G= | CA1799826425 | CNGB3 | c.494-10C= (n.494-10C=) n.255-10C= c.80-10C= (n.80-10C=) | |
| 8 | g.86668178G>T | CA2687827253 | CNGB3 | c.494-10C>A (n.494-10C>A) n.255-10C>A c.80-10C>A (n.80-10C>A) | gnomAD v4 |
| 8 | g.86668178_86668179del | CA2687827252 | CNGB3 | c.494-11_494-10del (n.494-11_494-10del) n.255-11_255-10del c.80-11_80-10del (n.80-11_80-10del) | gnomAD v4 |
| 8 | g.86668178_86668179delinsGA | CA2742040114 | CNGB3 | c.494-11_494-10delinsTC (n.494-11_494-10delinsTC) n.255-11_255-10delinsTC c.80-11_80-10delinsTC (n.80-11_80-10delinsTC) | |
| 8 | g.86668178_86668180delinsGAA | CA1799826423 | CNGB3 | c.494-12_494-10delinsTTC (n.494-12_494-10delinsTTC) n.255-12_255-10delinsTTC c.80-12_80-10delinsTTC (n.80-12_80-10delinsTTC) | |
| 8 | g.86668178_86668179insGA | CA2781156240 | CNGB3 | c.494-11_494-10insTC (n.494-11_494-10insTC) n.255-11_255-10insTC c.80-11_80-10insTC (n.80-11_80-10insTC) | |
| 8 | g.86668179A= | CA1799826435 | CNGB3 | c.494-11T= (n.494-11T=) n.255-11T= c.80-11T= (n.80-11T=) | |
| 8 | g.86668179A>C | CA2687827255 | CNGB3 | c.494-11T>G (n.494-11T>G) n.255-11T>G c.80-11T>G (n.80-11T>G) | ClinVar gnomAD v4 |
| 8 | g.86668179A>G | CA4800372 | CNGB3 | c.494-11T>C (n.494-11T>C) n.255-11T>C c.80-11T>C (n.80-11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668189dup | CA4800368 | CNGB3 | c.494-11dup (n.494-11dup) n.255-11dup c.80-11dup (n.80-11dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668188_86668189dup | CA4800369 | CNGB3 | c.494-12_494-11dup (n.494-12_494-11dup) n.255-12_255-11dup c.80-12_80-11dup (n.80-12_80-11dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668187_86668189dup | CA4800371 | CNGB3 | c.494-13_494-11dup (n.494-13_494-11dup) n.255-13_255-11dup c.80-13_80-11dup (n.80-13_80-11dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86668186_86668189dup | CA1116218107 | CNGB3 | c.494-14_494-11dup (n.494-14_494-11dup) n.255-14_255-11dup c.80-14_80-11dup (n.80-14_80-11dup) | dbSNP gnomAD v4 |
| 8 | g.86668185_86668189dup | CA2687827257 | CNGB3 | c.494-15_494-11dup (n.494-15_494-11dup) n.255-15_255-11dup c.80-15_80-11dup (n.80-15_80-11dup) | gnomAD v4 |
| 8 | g.86668183_86668189dup | CA582920891 | CNGB3 | c.494-17_494-11dup (n.494-17_494-11dup) n.255-17_255-11dup c.80-17_80-11dup (n.80-17_80-11dup) | gnomAD v2 |
| 8 | g.86668189del | CA4800367 | CNGB3 | c.494-11del (n.494-11del) n.255-11del c.80-11del (n.80-11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668188_86668189del | CA4800370 | CNGB3 | c.494-12_494-11del (n.494-12_494-11del) n.255-12_255-11del c.80-12_80-11del (n.80-12_80-11del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668187_86668189del | CA2687827256 | CNGB3 | c.494-13_494-11del (n.494-13_494-11del) n.255-13_255-11del c.80-13_80-11del (n.80-13_80-11del) | gnomAD v4 |
| 8 | g.86668186_86668189del | CA2687827254 | CNGB3 | c.494-14_494-11del (n.494-14_494-11del) n.255-14_255-11del c.80-14_80-11del (n.80-14_80-11del) | gnomAD v4 |
| 8 | g.86668179_86668180insG | CA918307650 | CNGB3 | c.494-12_494-11insC (n.494-12_494-11insC) n.255-12_255-11insC c.80-12_80-11insC (n.80-12_80-11insC) | dbSNP |
| 8 | g.86668180A>G | CA2687827258 | CNGB3 | c.494-12T>C (n.494-12T>C) n.255-12T>C c.80-12T>C (n.80-12T>C) | gnomAD v4 |
| 8 | g.86668185A= | CA1799826447 | CNGB3 | c.494-17T= (n.494-17T=) n.255-17T= c.80-17T= (n.80-17T=) | |
| 8 | g.86668185A>G | CA1116218113 | CNGB3 | c.494-17T>C (n.494-17T>C) n.255-17T>C c.80-17T>C (n.80-17T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86668185A>T | CA1116218115 | CNGB3 | c.494-17T>A (n.494-17T>A) n.255-17T>A c.80-17T>A (n.80-17T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86668185_86668186insG | CA2687827259 | CNGB3 | c.494-18_494-17insC (n.494-18_494-17insC) n.255-18_255-17insC c.80-18_80-17insC (n.80-18_80-17insC) | gnomAD v4 |
| 8 | g.86668186A= | CA1799826450 | CNGB3 | c.494-18T= (n.494-18T=) n.255-18T= c.80-18T= (n.80-18T=) | |
| 8 | g.86668186A>C | CA2781156241 | CNGB3 | c.494-18T>G (n.494-18T>G) n.255-18T>G c.80-18T>G (n.80-18T>G) | |
| 8 | g.86668186A>G | CA652506842 | CNGB3 | c.494-18T>C (n.494-18T>C) n.255-18T>C c.80-18T>C (n.80-18T>C) | COSMIC |
| 8 | g.86668186A>T | CA582920892 | CNGB3 | c.494-18T>A (n.494-18T>A) n.255-18T>A c.80-18T>A (n.80-18T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668186_86668187insC | CA2740095062 | CNGB3 | c.494-19_494-18insG (n.494-19_494-18insG) n.255-19_255-18insG c.80-19_80-18insG (n.80-19_80-18insG) | ClinVar |
| 8 | g.86668186_86668187insG | CA582920893 | CNGB3 | c.494-19_494-18insC (n.494-19_494-18insC) n.255-19_255-18insC c.80-19_80-18insC (n.80-19_80-18insC) | gnomAD v2 gnomAD v4 |
| 8 | g.86668186_86668187insCACCAAACACACCCAAC | CA2781156242 | CNGB3 | c.494-19_494-18insGTTGGGTGTGTTTGGTG (n.494-19_494-18insGTTGGGTGTGTTTGGTG) n.255-19_255-18insGTTGGGTGTGTTTGGTG c.80-19_80-18insGTTGGGTGTGTTTGGTG (n.80-19_80-18insGTTGGGTGTGTTTGGTG) | |
| 8 | g.86668187A= | CA1799826455 | CNGB3 | c.494-19T= (n.494-19T=) n.255-19T= c.80-19T= (n.80-19T=) | |
| 8 | g.86668187A>G | CA856341478 | CNGB3 | c.494-19T>C (n.494-19T>C) n.255-19T>C c.80-19T>C (n.80-19T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86668188A= | CA1799826460 | CNGB3 | c.494-20T= (n.494-20T=) n.255-20T= c.80-20T= (n.80-20T=) | |
| 8 | g.86668188_86668189insT | CA1799826464 | CNGB3 | c.494-21_494-20insA (n.494-21_494-20insA) n.255-21_255-20insA c.80-21_80-20insA (n.80-21_80-20insA) | dbSNP |
| 8 | g.86668189A= | CA1799826463 | CNGB3 | c.494-21T= (n.494-21T=) n.255-21T= c.80-21T= (n.80-21T=) | |
| 8 | g.86668189A>T | CA582920894 | CNGB3 | c.494-21T>A (n.494-21T>A) n.255-21T>A c.80-21T>A (n.80-21T>A) | dbSNP gnomAD v2 |
| 8 | g.86668190_86668191del | CA2687827260 | CNGB3 | c.494-22_494-21del (n.494-22_494-21del) n.255-22_255-21del c.80-22_80-21del (n.80-22_80-21del) | gnomAD v4 |
| 8 | g.86668189_86668190insT | CA4800373 | CNGB3 | c.494-22_494-21insA (n.494-22_494-21insA) n.255-22_255-21insA c.80-22_80-21insA (n.80-22_80-21insA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668190del | CA2687827261 | CNGB3 | c.494-22del (n.494-22del) n.255-22del c.80-22del (n.80-22del) | gnomAD v4 |
| 8 | g.86668190G>A | CA4800374 | CNGB3 | c.494-22C>T (n.494-22C>T) n.255-22C>T c.80-22C>T (n.80-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86668190G= | CA1799826467 | CNGB3 | c.494-22C= (n.494-22C=) n.255-22C= c.80-22C= (n.80-22C=) | |
| 8 | g.86668190G>T | CA2687827262 | CNGB3 | c.494-22C>A (n.494-22C>A) n.255-22C>A c.80-22C>A (n.80-22C>A) | gnomAD v4 |
| 8 | g.86668191A= | CA1799826469 | CNGB3 | c.494-23T= (n.494-23T=) n.255-23T= c.80-23T= (n.80-23T=) | |
| 8 | g.86668191A>G | CA1799826470 | CNGB3 | c.494-23T>C (n.494-23T>C) n.255-23T>C c.80-23T>C (n.80-23T>C) | dbSNP |
| 8 | g.86668191A>T | CA1799826472 | CNGB3 | c.494-23T>A (n.494-23T>A) n.255-23T>A c.80-23T>A (n.80-23T>A) | dbSNP |
| 8 | g.86668192T>A | CA1116218119 | CNGB3 | c.494-24A>T (n.494-24A>T) n.255-24A>T c.80-24A>T (n.80-24A>T) | gnomAD v3 gnomAD v4 |
| 8 | g.86668192T>C | CA2687827263 | CNGB3 | c.494-24A>G (n.494-24A>G) n.255-24A>G c.80-24A>G (n.80-24A>G) | gnomAD v4 |
| 8 | g.86668192T>G | CA1116218120 | CNGB3 | c.494-24A>C (n.494-24A>C) n.255-24A>C c.80-24A>C (n.80-24A>C) | gnomAD v3 gnomAD v4 |
| 8 | g.86668192_86668193del | CA2687827264 | CNGB3 | c.494-25_494-24del (n.494-25_494-24del) n.255-25_255-24del c.80-25_80-24del (n.80-25_80-24del) | gnomAD v4 |
| 8 | g.86668192_86668193delinsTG | CA1799826475 | CNGB3 | c.494-25_494-24delinsCA (n.494-25_494-24delinsCA) n.255-25_255-24delinsCA c.80-25_80-24delinsCA (n.80-25_80-24delinsCA) | |
| 8 | g.86668193del | CA856341485 | CNGB3 | c.494-25del (n.494-25del) n.255-25del c.80-25del (n.80-25del) | dbSNP gnomAD v4 |
| 8 | g.86668193G>A | CA2687827265 | CNGB3 | c.494-25C>T (n.494-25C>T) n.255-25C>T c.80-25C>T (n.80-25C>T) | gnomAD v4 |
| 8 | g.86668193G>T | CA2687827266 | CNGB3 | c.494-25C>A (n.494-25C>A) n.255-25C>A c.80-25C>A (n.80-25C>A) | gnomAD v4 |
| 8 | g.86668195A>G | CA2687827267 | CNGB3 | c.494-27T>C (n.494-27T>C) n.255-27T>C c.80-27T>C (n.80-27T>C) | gnomAD v4 |
| 8 | g.86668196A= | CA1799826478 | CNGB3 | c.494-28T= (n.494-28T=) n.255-28T= c.80-28T= (n.80-28T=) | |
| 8 | g.86668196A>G | CA4800375 | CNGB3 | c.494-28T>C (n.494-28T>C) n.255-28T>C c.80-28T>C (n.80-28T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86668197C>A | CA1799826481 | CNGB3 | c.494-29G>T (n.494-29G>T) n.255-29G>T c.80-29G>T (n.80-29G>T) | dbSNP gnomAD v4 |
| 8 | g.86668197C= | CA1799826482 | CNGB3 | c.494-29G= (n.494-29G=) n.255-29G= c.80-29G= (n.80-29G=) | |
| 8 | g.86668197C>T | CA582920895 | CNGB3 | c.494-29G>A (n.494-29G>A) n.255-29G>A c.80-29G>A (n.80-29G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668199T>C | CA2687827268 | CNGB3 | c.494-31A>G (n.494-31A>G) n.255-31A>G c.80-31A>G (n.80-31A>G) | gnomAD v4 |
| 8 | g.86668199_86668200insACA | CA2781156243 | CNGB3 | c.494-32_494-31insTGT (n.494-32_494-31insTGT) n.255-32_255-31insTGT c.80-32_80-31insTGT (n.80-32_80-31insTGT) | |
| 8 | g.86668200T>C | CA582920896 | CNGB3 | c.494-32A>G (n.494-32A>G) n.255-32A>G c.80-32A>G (n.80-32A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668200T= | CA1799826484 | CNGB3 | c.494-32A= (n.494-32A=) n.255-32A= c.80-32A= (n.80-32A=) | |
| 8 | g.86668200_86668203del | CA2781156244 | CNGB3 | c.494-35_494-32del (n.494-35_494-32del) n.255-35_255-32del c.80-35_80-32del (n.80-35_80-32del) | |
| 8 | g.86668200_86668201insAG | CA2781156245 | CNGB3 | c.494-33_494-32insCT (n.494-33_494-32insCT) n.255-33_255-32insCT c.80-33_80-32insCT (n.80-33_80-32insCT) | |
| 8 | g.86668201_86668202del | CA2781156246 | CNGB3 | c.494-34_494-33del (n.494-34_494-33del) n.255-34_255-33del c.80-34_80-33del (n.80-34_80-33del) | |
| 8 | g.86668201_86668202insA | CA2781156247 | CNGB3 | c.494-34_494-33insT (n.494-34_494-33insT) n.255-34_255-33insT c.80-34_80-33insT (n.80-34_80-33insT) | |
| 8 | g.86668202G>C | CA2781156248 | CNGB3 | c.494-34C>G (n.494-34C>G) n.255-34C>G c.80-34C>G (n.80-34C>G) | |
| 8 | g.86668202G>T | CA2687827269 | CNGB3 | c.494-34C>A (n.494-34C>A) n.255-34C>A c.80-34C>A (n.80-34C>A) | gnomAD v4 |
| 8 | g.86668203_86668204insCT | CA2781156249 | CNGB3 | c.494-36_494-35insAG (n.494-36_494-35insAG) n.255-36_255-35insAG c.80-36_80-35insAG (n.80-36_80-35insAG) | |
| 8 | g.86668205G>A | CA4800376 | CNGB3 | c.494-37C>T (n.494-37C>T) n.255-37C>T c.80-37C>T (n.80-37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668205G>C | CA2781156250 | CNGB3 | c.494-37C>G (n.494-37C>G) n.255-37C>G c.80-37C>G (n.80-37C>G) | |
| 8 | g.86668205G= | CA1799826486 | CNGB3 | c.494-37C= (n.494-37C=) n.255-37C= c.80-37C= (n.80-37C=) | |
| 8 | g.86668205G>T | CA582920897 | CNGB3 | c.494-37C>A (n.494-37C>A) n.255-37C>A c.80-37C>A (n.80-37C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668207G>A | CA1799826489 | CNGB3 | c.494-39C>T (n.494-39C>T) n.255-39C>T c.80-39C>T (n.80-39C>T) | dbSNP |
| 8 | g.86668207G= | CA1799826488 | CNGB3 | c.494-39C= (n.494-39C=) n.255-39C= c.80-39C= (n.80-39C=) | |
| 8 | g.86668207_86668208insACA | CA2781156251 | CNGB3 | c.494-40_494-39insTGT (n.494-40_494-39insTGT) n.255-40_255-39insTGT c.80-40_80-39insTGT (n.80-40_80-39insTGT) | |
| 8 | g.86668208G>A | CA582920898 | CNGB3 | c.494-40C>T (n.494-40C>T) n.255-40C>T c.80-40C>T (n.80-40C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668208G>C | CA2781156252 | CNGB3 | c.494-40C>G (n.494-40C>G) n.255-40C>G c.80-40C>G (n.80-40C>G) | |
| 8 | g.86668208G= | CA1799826490 | CNGB3 | c.494-40C= (n.494-40C=) n.255-40C= c.80-40C= (n.80-40C=) | |
| 8 | g.86668208G>T | CA2687827270 | CNGB3 | c.494-40C>A (n.494-40C>A) n.255-40C>A c.80-40C>A (n.80-40C>A) | gnomAD v4 |
| 8 | g.86668208_86668209insAC | CA2781156253 | CNGB3 | c.494-41_494-40insGT (n.494-41_494-40insGT) n.255-41_255-40insGT c.80-41_80-40insGT (n.80-41_80-40insGT) | |
| 8 | g.86668208_86668209insACC | CA2781156254 | CNGB3 | c.494-41_494-40insGGT (n.494-41_494-40insGGT) n.255-41_255-40insGGT c.80-41_80-40insGGT (n.80-41_80-40insGGT) | |
| 8 | g.86668209T>A | CA2781156255 | CNGB3 | c.494-41A>T (n.494-41A>T) n.255-41A>T c.80-41A>T (n.80-41A>T) | |
| 8 | g.86668209T>C | CA2781156256 | CNGB3 | c.494-41A>G (n.494-41A>G) n.255-41A>G c.80-41A>G (n.80-41A>G) | |
| 8 | g.86668209T>G | CA1116218122 | CNGB3 | c.494-41A>C (n.494-41A>C) n.255-41A>C c.80-41A>C (n.80-41A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86668209T= | CA1799826493 | CNGB3 | c.494-41A= (n.494-41A=) n.255-41A= c.80-41A= (n.80-41A=) | |
| 8 | g.86668210T>A | CA2687827271 | CNGB3 | c.494-42A>T (n.494-42A>T) n.255-42A>T c.80-42A>T (n.80-42A>T) | gnomAD v4 |
| 8 | g.86668210T>G | CA1116218123 | CNGB3 | c.494-42A>C (n.494-42A>C) n.255-42A>C c.80-42A>C (n.80-42A>C) | gnomAD v3 gnomAD v4 |
| 8 | g.86668213_86668225del | CA2781156257 | CNGB3 | c.494-56_494-44del (n.494-56_494-44del) n.255-56_255-44del c.80-56_80-44del (n.80-56_80-44del) | |
| 8 | g.86668213G>A | CA2717723499 | CNGB3 | c.494-45C>T (n.494-45C>T) n.255-45C>T c.80-45C>T (n.80-45C>T) | dbSNP |
| 8 | g.86668213G>T | CA2687827272 | CNGB3 | c.494-45C>A (n.494-45C>A) n.255-45C>A c.80-45C>A (n.80-45C>A) | gnomAD v4 |
| 8 | g.86668213_86668214insA | CA2781156258 | CNGB3 | c.494-46_494-45insT (n.494-46_494-45insT) n.255-46_255-45insT c.80-46_80-45insT (n.80-46_80-45insT) | |
| 8 | g.86668214T>A | CA2579200148 | CNGB3 | c.494-46A>T (n.494-46A>T) n.255-46A>T c.80-46A>T (n.80-46A>T) | |
| 8 | g.86668214T>C | CA2781156259 | CNGB3 | c.494-46A>G (n.494-46A>G) n.255-46A>G c.80-46A>G (n.80-46A>G) | |
| 8 | g.86668215del | CA2687827273 | CNGB3 | c.494-46del (n.494-46del) n.255-46del c.80-46del (n.80-46del) | gnomAD v4 |
| 8 | g.86668214_86668215insA | CA2781156260 | CNGB3 | c.494-47_494-46insT (n.494-47_494-46insT) n.255-47_255-46insT c.80-47_80-46insT (n.80-47_80-46insT) | |
| 8 | g.86668214_86668215insAC | CA2781156261 | CNGB3 | c.494-47_494-46insGT (n.494-47_494-46insGT) n.255-47_255-46insGT c.80-47_80-46insGT (n.80-47_80-46insGT) | |
| 8 | g.86668214_86668215insACA | CA2781156262 | CNGB3 | c.494-47_494-46insTGT (n.494-47_494-46insTGT) n.255-47_255-46insTGT c.80-47_80-46insTGT (n.80-47_80-46insTGT) | |
| 8 | g.86668215T>A | CA2781156263 | CNGB3 | c.494-47A>T (n.494-47A>T) n.255-47A>T c.80-47A>T (n.80-47A>T) | |
| 8 | g.86668215T>C | CA2687827274 | CNGB3 | c.494-47A>G (n.494-47A>G) n.255-47A>G c.80-47A>G (n.80-47A>G) | gnomAD v4 |
| 8 | g.86668216A>C | CA2687827275 | CNGB3 | c.494-48T>G (n.494-48T>G) n.255-48T>G c.80-48T>G (n.80-48T>G) | gnomAD v4 |
| 8 | g.86668217G>A | CA582920899 | CNGB3 | c.494-49C>T (n.494-49C>T) n.255-49C>T c.80-49C>T (n.80-49C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668217G>C | CA4800377 | CNGB3 | c.494-49C>G (n.494-49C>G) n.255-49C>G c.80-49C>G (n.80-49C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86668217G= | CA1799826496 | CNGB3 | c.494-49C= (n.494-49C=) n.255-49C= c.80-49C= (n.80-49C=) | |
| 8 | g.86668217G>T | CA2687827276 | CNGB3 | c.494-49C>A (n.494-49C>A) n.255-49C>A c.80-49C>A (n.80-49C>A) | gnomAD v4 |
| 8 | g.86668218T>A | CA2579200149 | CNGB3 | c.494-50A>T (n.494-50A>T) n.255-50A>T c.80-50A>T (n.80-50A>T) | |
| 8 | g.86668220del | CA2687827277 | CNGB3 | c.494-50del (n.494-50del) n.255-50del c.80-50del (n.80-50del) | gnomAD v4 |
| 8 | g.86668219_86668220del | CA2781156264 | CNGB3 | c.494-51_494-50del (n.494-51_494-50del) n.255-51_255-50del c.80-51_80-50del (n.80-51_80-50del) | |
| 8 | g.86668219_86668224del | CA2781156265 | CNGB3 | c.494-55_494-50del (n.494-55_494-50del) n.255-55_255-50del c.80-55_80-50del (n.80-55_80-50del) | |
| 8 | g.86668219T>A | CA2781156266 | CNGB3 | c.494-51A>T (n.494-51A>T) n.255-51A>T c.80-51A>T (n.80-51A>T) | |
| 8 | g.86668219_86668220insA | CA2781156267 | CNGB3 | c.494-52_494-51insT (n.494-52_494-51insT) n.255-52_255-51insT c.80-52_80-51insT (n.80-52_80-51insT) | |
| 8 | g.86668220T>C | CA2781156270 | CNGB3 | c.494-52A>G (n.494-52A>G) n.255-52A>G c.80-52A>G (n.80-52A>G) | |
| 8 | g.86668220T>G | CA2781156268 | CNGB3 | c.494-52A>C (n.494-52A>C) n.255-52A>C c.80-52A>C (n.80-52A>C) | |
| 8 | g.86668220_86668228del | CA2781156269 | CNGB3 | c.494-60_494-52del (n.494-60_494-52del) n.255-60_255-52del c.80-60_80-52del (n.80-60_80-52del) | |
| 8 | g.86668221A>C | CA2687827278 | CNGB3 | c.494-53T>G (n.494-53T>G) n.255-53T>G c.80-53T>G (n.80-53T>G) | gnomAD v4 |
| 8 | g.86668222G>C | CA2687827279 | CNGB3 | c.494-54C>G (n.494-54C>G) n.255-54C>G c.80-54C>G (n.80-54C>G) | gnomAD v4 |
| 8 | g.86668222G>T | CA2687827280 | CNGB3 | c.494-54C>A (n.494-54C>A) n.255-54C>A c.80-54C>A (n.80-54C>A) | gnomAD v4 |
| 8 | g.86668223_86668228del | CA2781156271 | CNGB3 | c.494-60_494-55del (n.494-60_494-55del) n.255-60_255-55del c.80-60_80-55del (n.80-60_80-55del) | |
| 8 | g.86668224T>C | CA2781156273 | CNGB3 | c.494-56A>G (n.494-56A>G) n.255-56A>G c.80-56A>G (n.80-56A>G) | |
| 8 | g.86668224_86668226del | CA2781156272 | CNGB3 | c.494-58_494-56del (n.494-58_494-56del) n.255-58_255-56del c.80-58_80-56del (n.80-58_80-56del) | |
| 8 | g.86668225A>G | CA2687827281 | CNGB3 | c.494-57T>C (n.494-57T>C) n.255-57T>C c.80-57T>C (n.80-57T>C) | gnomAD v4 |
| 8 | g.86668229dup | CA2687827283 | CNGB3 | c.494-57dup (n.494-57dup) n.255-57dup c.80-57dup (n.80-57dup) | gnomAD v4 |
| 8 | g.86668229del | CA2687827282 | CNGB3 | c.494-57del (n.494-57del) n.255-57del c.80-57del (n.80-57del) | gnomAD v4 |
| 8 | g.86668227_86668229del | CA2781156274 | CNGB3 | c.494-59_494-57del (n.494-59_494-57del) n.255-59_255-57del c.80-59_80-57del (n.80-59_80-57del) | |
| 8 | g.86668226A>C | CA2781156275 | CNGB3 | c.494-58T>G (n.494-58T>G) n.255-58T>G c.80-58T>G (n.80-58T>G) |