Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.102532639_102532642delinsACGG | CA1275308273 | SLC9A4 | c.2348_2351delinsACGG (p.His783=) c.2261_2264delinsACGG (p.His754=) | |
2 | g.102532641_102532643del | CA1034393025 | SLC9A4 | c.2350_2352del (p.Gly784del) c.2263_2265del (p.Gly755del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102532641G>A | CA1811426 | SLC9A4 | c.2350G>A (p.Gly784Ser) c.2263G>A (p.Gly755Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102532641G>C | CA347952252 | SLC9A4 | c.2350G>C (p.Gly784Arg) c.2263G>C (p.Gly755Arg) | |
2 | g.102532641G= | CA1275308276 | SLC9A4 | c.2350G= (p.Gly784=) c.2263G= (p.Gly755=) | |
2 | g.102532641G>T | CA347952254 | SLC9A4 | c.2350G>T (p.Gly784Cys) c.2263G>T (p.Gly755Cys) | gnomAD v4 |
2 | g.102532642G>A | CA347952255 | SLC9A4 | c.2351G>A (p.Gly784Asp) c.2264G>A (p.Gly755Asp) | gnomAD v4 |
2 | g.102532642G>C | CA347952256 | SLC9A4 | c.2351G>C (p.Gly784Ala) c.2264G>C (p.Gly755Ala) | |
2 | g.102532642G>T | CA347952257 | SLC9A4 | c.2351G>T (p.Gly784Val) c.2264G>T (p.Gly755Val) | |
2 | g.102532643C>A | CA427841732 | SLC9A4 | c.2352C>A (p.Gly784=) c.2265C>A (p.Gly755=) | dbSNP |
2 | g.102532643C= | CA1275308277 | SLC9A4 | c.2352C= (p.Gly784=) c.2265C= (p.Gly755=) | |
2 | g.102532643C>G | CA427841740 | SLC9A4 | c.2352C>G (p.Gly784=) c.2265C>G (p.Gly755=) | |
2 | g.102532643C>T | CA427841734 | SLC9A4 | c.2352C>T (p.Gly784=) c.2265C>T (p.Gly755=) | |
2 | g.102532644A>C | CA427841743 | SLC9A4 | c.2353A>C (p.Arg785=) c.2266A>C (p.Arg756=) | |
2 | g.102532644A>G | CA347952258 | SLC9A4 | c.2353A>G (p.Arg785Gly) c.2266A>G (p.Arg756Gly) | |
2 | g.102532644A>T | CA347952260 | SLC9A4 | c.2353A>T (p.Arg785Trp) c.2266A>T (p.Arg756Trp) | |
2 | g.102532645G>A | CA347952262 | SLC9A4 | c.2354G>A (p.Arg785Lys) c.2267G>A (p.Arg756Lys) | |
2 | g.102532645G>C | CA347952263 | SLC9A4 | c.2354G>C (p.Arg785Thr) c.2267G>C (p.Arg756Thr) | |
2 | g.102532645G>T | CA347952265 | SLC9A4 | c.2354G>T (p.Arg785Met) c.2267G>T (p.Arg756Met) | |
2 | g.102532647del | CA2660482866 | SLC9A4 | c.2356del (p.Asp786ThrfsTer?) c.2269del (p.Asp757ThrfsTer?) | gnomAD v4 |
2 | g.102532645_102532654delinsGGGACCATCA | CA1275308278 | SLC9A4 | c.2354_2363delinsGGGACCATCA (p.Arg785=) c.2267_2276delinsGGGACCATCA (p.Arg756=) | |
2 | g.102532646G>A | CA427841748 | SLC9A4 | c.2355G>A (p.Arg785=) c.2268G>A (p.Arg756=) | |
2 | g.102532646G>C | CA347952267 | SLC9A4 | c.2355G>C (p.Arg785Ser) c.2268G>C (p.Arg756Ser) | |
2 | g.102532646G>T | CA347952269 | SLC9A4 | c.2355G>T (p.Arg785Ser) c.2268G>T (p.Arg756Ser) | |
2 | g.102532646_102532654del | CA1034393027 | SLC9A4 | c.2355_2363del (p.Arg785_His788delinsSer) c.2268_2276del (p.Arg756_His759delinsSer) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102532647G>A | CA347952271 | SLC9A4 | c.2356G>A (p.Asp786Asn) c.2269G>A (p.Asp757Asn) | COSMIC |
2 | g.102532647G>C | CA347952272 | SLC9A4 | c.2356G>C (p.Asp786His) c.2269G>C (p.Asp757His) | COSMIC |
2 | g.102532647G>T | CA347952275 | SLC9A4 | c.2356G>T (p.Asp786Tyr) c.2269G>T (p.Asp757Tyr) | gnomAD v4 |
2 | g.102532648A= | CA1275308279 | SLC9A4 | c.2357A= (p.Asp786=) c.2270A= (p.Asp757=) | |
2 | g.102532648A>C | CA347952276 | SLC9A4 | c.2357A>C (p.Asp786Ala) c.2270A>C (p.Asp757Ala) | |
2 | g.102532648A>G | CA347952278 | SLC9A4 | c.2357A>G (p.Asp786Gly) c.2270A>G (p.Asp757Gly) | |
2 | g.102532648A>T | CA1811427 | SLC9A4 | c.2357A>T (p.Asp786Val) c.2270A>T (p.Asp757Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102532649C>A | CA347952281 | SLC9A4 | c.2358C>A (p.Asp786Glu) c.2271C>A (p.Asp757Glu) | |
2 | g.102532649C>G | CA347952283 | SLC9A4 | c.2358C>G (p.Asp786Glu) c.2271C>G (p.Asp757Glu) | |
2 | g.102532649C>T | CA427841766 | SLC9A4 | c.2358C>T (p.Asp786=) c.2271C>T (p.Asp757=) | gnomAD v4 |
2 | g.102532653_102532664del | CA2660482874 | SLC9A4 | c.2362_2373del (p.His788_His791del) c.2275_2286del (p.His759_His762del) | gnomAD v4 |
2 | g.102532650C>A | CA347952286 | SLC9A4 | c.2359C>A (p.His787Asn) c.2272C>A (p.His758Asn) | dbSNP |
2 | g.102532650C= | CA1275308280 | SLC9A4 | c.2359C= (p.His787=) c.2272C= (p.His758=) | |
2 | g.102532650C>G | CA347952287 | SLC9A4 | c.2359C>G (p.His787Asp) c.2272C>G (p.His758Asp) | |
2 | g.102532650C>T | CA347952290 | SLC9A4 | c.2359C>T (p.His787Tyr) c.2272C>T (p.His758Tyr) | |
2 | g.102532651A= | CA1275308281 | SLC9A4 | c.2360A= (p.His787=) c.2273A= (p.His758=) | |
2 | g.102532651A>C | CA347952296 | SLC9A4 | c.2360A>C (p.His787Pro) c.2273A>C (p.His758Pro) | |
2 | g.102532651A>G | CA347952294 | SLC9A4 | c.2360A>G (p.His787Arg) c.2273A>G (p.His758Arg) | dbSNP |
2 | g.102532651A>T | CA347952292 | SLC9A4 | c.2360A>T (p.His787Leu) c.2273A>T (p.His758Leu) | |
2 | g.102532652T>A | CA347952297 | SLC9A4 | c.2361T>A (p.His787Gln) c.2274T>A (p.His758Gln) | |
2 | g.102532652T>C | CA1811428 | SLC9A4 | c.2361T>C (p.His787=) c.2274T>C (p.His758=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102532652T>G | CA347952300 | SLC9A4 | c.2361T>G (p.His787Gln) c.2274T>G (p.His758Gln) | |
2 | g.102532652T= | CA1275308282 | SLC9A4 | c.2361T= (p.His787=) c.2274T= (p.His758=) | |
2 | g.102532653C>A | CA347952302 | SLC9A4 | c.2362C>A (p.His788Asn) c.2275C>A (p.His759Asn) | |
2 | g.102532653C>G | CA347952304 | SLC9A4 | c.2362C>G (p.His788Asp) c.2275C>G (p.His759Asp) |