Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.216247118C>A | CA252233 | USH2A | c.2276G>T (p.Cys759Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216247118C= | CA1141188248 | USH2A | c.2276G= (p.Cys759=) | |
1 | g.216247118C>G | CA344865287 | USH2A | c.2276G>C (p.Cys759Ser) | |
1 | g.216247118C>T | CA344865290 | USH2A | c.2276G>A (p.Cys759Tyr) | |
1 | g.216247119A>C | CA344865293 | USH2A | c.2275T>G (p.Cys759Gly) | |
1 | g.216247119A>G | CA344865295 | USH2A | c.2275T>C (p.Cys759Arg) | |
1 | g.216247119A>T | CA344865292 | USH2A | c.2275T>A (p.Cys759Ser) | |
1 | g.216247120G>A | CA423431514 | USH2A | c.2274C>T (p.Phe758=) | |
1 | g.216247120G>C | CA37501495 | USH2A | c.2274C>G (p.Phe758Leu) | dbSNP |
1 | g.216247120G= | CA1140726417 | USH2A | c.2274C= (p.Phe758=) | |
1 | g.216247120G>T | CA344865297 | USH2A | c.2274C>A (p.Phe758Leu) | |
1 | g.216247121A= | CA1220619261 | USH2A | c.2273T= (p.Phe758=) | |
1 | g.216247121A>C | CA344865299 | USH2A | c.2273T>G (p.Phe758Cys) | |
1 | g.216247121A>G | CA344865300 | USH2A | c.2273T>C (p.Phe758Ser) | |
1 | g.216247121A>T | CA344865302 | USH2A | c.2273T>A (p.Phe758Tyr) | dbSNP |
1 | g.216247121_216247122insCAACAAACCAAACACACCCAACAC | CA2747735793 | USH2A | c.2272_2273insGTGTTGGGTGTGTTTGGTTTGTTG (p.Phe758delinsCysValGlyCysValTrpPheValVal) | |
1 | g.216247122A>C | CA344865307 | USH2A | c.2272T>G (p.Phe758Val) | |
1 | g.216247122A>G | CA344865304 | USH2A | c.2272T>C (p.Phe758Leu) | |
1 | g.216247122A>T | CA344865306 | USH2A | c.2272T>A (p.Phe758Ile) | |
1 | g.216247123T>A | CA344865309 | USH2A | c.2271A>T (p.Lys757Asn) | |
1 | g.216247123T>C | CA423431519 | USH2A | c.2271A>G (p.Lys757=) | |
1 | g.216247123T>G | CA344865311 | USH2A | c.2271A>C (p.Lys757Asn) | |
1 | g.216247124T>A | CA1396256 | USH2A | c.2270A>T (p.Lys757Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216247124T>C | CA344865314 | USH2A | c.2270A>G (p.Lys757Arg) | |
1 | g.216247124T>G | CA344865315 | USH2A | c.2270A>C (p.Lys757Thr) | |
1 | g.216247124T= | CA1220619262 | USH2A | c.2270A= (p.Lys757=) | |
1 | g.216247125T>A | CA344865317 | USH2A | c.2269A>T (p.Lys757Ter) | ClinVar |
1 | g.216247125T>C | CA344865320 | USH2A | c.2269A>G (p.Lys757Glu) | gnomAD v4 |
1 | g.216247125T>G | CA344865319 | USH2A | c.2269A>C (p.Lys757Gln) | |
1 | g.216247126G>A | CA423431524 | USH2A | c.2268C>T (p.Asn756=) | |
1 | g.216247126G>C | CA344865322 | USH2A | c.2268C>G (p.Asn756Lys) | COSMIC COSMIC COSMIC |
1 | g.216247126G>T | CA344865323 | USH2A | c.2268C>A (p.Asn756Lys) | |
1 | g.216247127T>A | CA344865325 | USH2A | c.2267A>T (p.Asn756Ile) | |
1 | g.216247127T>C | CA344865326 | USH2A | c.2267A>G (p.Asn756Ser) | |
1 | g.216247127T>G | CA344865328 | USH2A | c.2267A>C (p.Asn756Thr) | |
1 | g.216247128T>A | CA344865331 | USH2A | c.2266A>T (p.Asn756Tyr) | |
1 | g.216247128T>C | CA344865333 | USH2A | c.2266A>G (p.Asn756Asp) | |
1 | g.216247128T>G | CA344865335 | USH2A | c.2266A>C (p.Asn756His) | |
1 | g.216247129C>A | CA423431529 | USH2A | c.2265G>T (p.Val755=) | |
1 | g.216247129C>G | CA423431531 | USH2A | c.2265G>C (p.Val755=) | |
1 | g.216247129C>T | CA423431534 | USH2A | c.2265G>A (p.Val755=) | |
1 | g.216247130A>C | CA344865337 | USH2A | c.2264T>G (p.Val755Gly) | |
1 | g.216247130A>G | CA344865338 | USH2A | c.2264T>C (p.Val755Ala) | |
1 | g.216247130A>T | CA344865340 | USH2A | c.2264T>A (p.Val755Glu) | |
1 | g.216247131C>A | CA344865356 | USH2A | c.2263G>T (p.Val755Leu) | |
1 | g.216247131C>G | CA344865354 | USH2A | c.2263G>C (p.Val755Leu) | |
1 | g.216247131C>T | CA344865352 | USH2A | c.2263G>A (p.Val755Met) | |
1 | g.216247132T>A | CA423431537 | USH2A | c.2262A>T (p.Ser754=) | |
1 | g.216247132T>C | CA423431538 | USH2A | c.2262A>G (p.Ser754=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.216247132T>G | CA423431539 | USH2A | c.2262A>C (p.Ser754=) |