Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.216247018A>C | CA344864931 | USH2A | c.2376T>G (p.Cys792Trp) | |
1 | g.216247018A>G | CA423432070 | USH2A | c.2376T>C (p.Cys792=) | |
1 | g.216247018A>T | CA344864930 | USH2A | c.2376T>A (p.Cys792Ter) | gnomAD v4 |
1 | g.216247019C>A | CA344864932 | USH2A | c.2375G>T (p.Cys792Phe) | |
1 | g.216247019C= | CA1220619218 | USH2A | c.2375G= (p.Cys792=) | |
1 | g.216247019C>G | CA1396240 | USH2A | c.2375G>C (p.Cys792Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216247019C>T | CA344864933 | USH2A | c.2375G>A (p.Cys792Tyr) | ClinVar dbSNP gnomAD v4 |
1 | g.216247020A>C | CA344864934 | USH2A | c.2374T>G (p.Cys792Gly) | COSMIC COSMIC COSMIC |
1 | g.216247020A>G | CA344864935 | USH2A | c.2374T>C (p.Cys792Arg) | |
1 | g.216247020A>T | CA344864936 | USH2A | c.2374T>A (p.Cys792Ser) | |
1 | g.216247021A= | CA1220619219 | USH2A | c.2373T= (p.Asn791=) | |
1 | g.216247021A>C | CA1396241 | USH2A | c.2373T>G (p.Asn791Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216247021A>G | CA423432071 | USH2A | c.2373T>C (p.Asn791=) | |
1 | g.216247021A>T | CA344864937 | USH2A | c.2373T>A (p.Asn791Lys) | |
1 | g.216247021_216247022insCC | CA2530522360 | USH2A | c.2372_2373insGG (p.Asn791LysfsTer?) | |
1 | g.216247022T>A | CA344864938 | USH2A | c.2372A>T (p.Asn791Ile) | |
1 | g.216247022T>C | CA1396242 | USH2A | c.2372A>G (p.Asn791Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216247022T>G | CA344864939 | USH2A | c.2372A>C (p.Asn791Thr) | |
1 | g.216247022T= | CA1220619220 | USH2A | c.2372A= (p.Asn791=) | |
1 | g.216247022_216247023insG | CA2507773116 | USH2A | c.2371_2372insC (p.Asn791ThrfsTer3) | |
1 | g.216247023T>A | CA344864940 | USH2A | c.2371A>T (p.Asn791Tyr) | |
1 | g.216247023T>C | CA344864941 | USH2A | c.2371A>G (p.Asn791Asp) | |
1 | g.216247023T>G | CA344864942 | USH2A | c.2371A>C (p.Asn791His) | |
1 | g.216247024G>A | CA423432074 | USH2A | c.2370C>T (p.Thr790=) | |
1 | g.216247024G>C | CA423432073 | USH2A | c.2370C>G (p.Thr790=) | ClinVar |
1 | g.216247024G= | CA1220619221 | USH2A | c.2370C= (p.Thr790=) | |
1 | g.216247024G>T | CA423432072 | USH2A | c.2370C>A (p.Thr790=) | dbSNP |
1 | g.216247025G>A | CA344864945 | USH2A | c.2369C>T (p.Thr790Ile) | |
1 | g.216247025G>C | CA344864943 | USH2A | c.2369C>G (p.Thr790Ser) | |
1 | g.216247025G>T | CA344864944 | USH2A | c.2369C>A (p.Thr790Asn) | |
1 | g.216247026T>A | CA344864946 | USH2A | c.2368A>T (p.Thr790Ser) | |
1 | g.216247026T>C | CA344864947 | USH2A | c.2368A>G (p.Thr790Ala) | |
1 | g.216247026T>G | CA344864948 | USH2A | c.2368A>C (p.Thr790Pro) | |
1 | g.216247027G>A | CA1396243 | USH2A | c.2367C>T (p.Val789=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216247027G>C | CA423432076 | USH2A | c.2367C>G (p.Val789=) | |
1 | g.216247027G= | CA1144558909 | USH2A | c.2367C= (p.Val789=) | |
1 | g.216247027G>T | CA423432075 | USH2A | c.2367C>A (p.Val789=) | |
1 | g.216247028A= | CA1220619222 | USH2A | c.2366T= (p.Val789=) | |
1 | g.216247028A>C | CA344864949 | USH2A | c.2366T>G (p.Val789Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.216247028A>G | CA344864950 | USH2A | c.2366T>C (p.Val789Ala) | |
1 | g.216247028A>T | CA344864951 | USH2A | c.2366T>A (p.Val789Asp) | |
1 | g.216247028_216247030del | CA2513822778 | USH2A | c.2364_2366del (p.Val789del) | |
1 | g.216247029C>A | CA344864952 | USH2A | c.2365G>T (p.Val789Phe) | |
1 | g.216247029C= | CA1143360341 | USH2A | c.2365G= (p.Val789=) | |
1 | g.216247029C>G | CA344864953 | USH2A | c.2365G>C (p.Val789Leu) | COSMIC COSMIC COSMIC |
1 | g.216247029C>T | CA1396244 | USH2A | c.2365G>A (p.Val789Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216247030A>C | CA344864954 | USH2A | c.2364T>G (p.Asp788Glu) | |
1 | g.216247030A>G | CA423432077 | USH2A | c.2364T>C (p.Asp788=) | |
1 | g.216247030A>T | CA344864955 | USH2A | c.2364T>A (p.Asp788Glu) | |
1 | g.216247031del | CA2586964557 | USH2A | c.2363del (p.Asp788ValfsTer?) |