Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.102532645_102532654delinsGGGACCATCA | CA1275308278 | SLC9A4 | c.2354_2363delinsGGGACCATCA (p.Arg785=) c.2267_2276delinsGGGACCATCA (p.Arg756=) | |
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.102532653_102532664del | CA2660482874 | SLC9A4 | c.2362_2373del (p.His788_His791del) c.2275_2286del (p.His759_His762del) | gnomAD v4 |
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) | |
2 | g.102532653C>T | CA347952306 | SLC9A4 | c.2362C>T (p.His788Tyr) c.2275C>T (p.His759Tyr) | |
2 | g.102532654A= | CA1275308283 | SLC9A4 | c.2363A= (p.His788=) c.2276A= (p.His759=) | |
2 | g.102532654A>C | CA347952313 | SLC9A4 | c.2363A>C (p.His788Pro) c.2276A>C (p.His759Pro) | |
2 | g.102532654A>G | CA347952309 | SLC9A4 | c.2363A>G (p.His788Arg) c.2276A>G (p.His759Arg) | |
2 | g.102532654A>T | CA347952311 | SLC9A4 | c.2363A>T (p.His788Leu) c.2276A>T (p.His759Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102532655C>A | CA347952314 | SLC9A4 | c.2364C>A (p.His788Gln) c.2277C>A (p.His759Gln) | gnomAD v4 |
2 | g.102532655C= | CA1275308284 | SLC9A4 | c.2364C= (p.His788=) c.2277C= (p.His759=) | |
2 | g.102532655C>G | CA1811429 | SLC9A4 | c.2364C>G (p.His788Gln) c.2277C>G (p.His759Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102532655C>T | CA52947406 | SLC9A4 | c.2364C>T (p.His788=) c.2277C>T (p.His759=) | dbSNP gnomAD v4 |
2 | g.102532656A>C | CA427841798 | SLC9A4 | c.2365A>C (p.Arg789=) c.2278A>C (p.Arg760=) | |
2 | g.102532656A>G | CA347952319 | SLC9A4 | c.2365A>G (p.Arg789Gly) c.2278A>G (p.Arg760Gly) | gnomAD v4 |
2 | g.102532656A>T | CA347952320 | SLC9A4 | c.2365A>T (p.Arg789Trp) c.2278A>T (p.Arg760Trp) | |
2 | g.102532657G>A | CA347952322 | SLC9A4 | c.2366G>A (p.Arg789Lys) c.2279G>A (p.Arg760Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102532657G>C | CA347952326 | SLC9A4 | c.2366G>C (p.Arg789Thr) c.2279G>C (p.Arg760Thr) | |
2 | g.102532657G= | CA1275308285 | SLC9A4 | c.2366G= (p.Arg789=) c.2279G= (p.Arg760=) | |
2 | g.102532657G>T | CA347952324 | SLC9A4 | c.2366G>T (p.Arg789Met) c.2279G>T (p.Arg760Met) | |
2 | g.102532658G>A | CA427841822 | SLC9A4 | c.2367G>A (p.Arg789=) c.2280G>A (p.Arg760=) | |
2 | g.102532658G>C | CA347952327 | SLC9A4 | c.2367G>C (p.Arg789Ser) c.2280G>C (p.Arg760Ser) | |
2 | g.102532658G= | CA1275308286 | SLC9A4 | c.2367G= (p.Arg789=) c.2280G= (p.Arg760=) | |
2 | g.102532658G>T | CA347952328 | SLC9A4 | c.2367G>T (p.Arg789Ser) c.2280G>T (p.Arg760Ser) | dbSNP gnomAD v4 |
2 | g.102532659T>A | CA347952329 | SLC9A4 | c.2368T>A (p.Ser790Thr) c.2281T>A (p.Ser761Thr) | |
2 | g.102532659T>C | CA347952331 | SLC9A4 | c.2368T>C (p.Ser790Pro) c.2281T>C (p.Ser761Pro) | |
2 | g.102532659T>G | CA347952333 | SLC9A4 | c.2368T>G (p.Ser790Ala) c.2281T>G (p.Ser761Ala) | dbSNP |
2 | g.102532659T= | CA1275308287 | SLC9A4 | c.2368T= (p.Ser790=) c.2281T= (p.Ser761=) | |
2 | g.102532660C>A | CA347952335 | SLC9A4 | c.2369C>A (p.Ser790Tyr) c.2282C>A (p.Ser761Tyr) | gnomAD v4 COSMIC |
2 | g.102532660C= | CA1275308288 | SLC9A4 | c.2369C= (p.Ser790=) c.2282C= (p.Ser761=) | |
2 | g.102532660C>G | CA347952336 | SLC9A4 | c.2369C>G (p.Ser790Cys) c.2282C>G (p.Ser761Cys) | |
2 | g.102532660C>T | CA1811430 | SLC9A4 | c.2369C>T (p.Ser790Phe) c.2282C>T (p.Ser761Phe) | dbSNP ExAC gnomAD v2 |
2 | g.102532661C>A | CA427841842 | SLC9A4 | c.2370C>A (p.Ser790=) c.2283C>A (p.Ser761=) | gnomAD v4 |
2 | g.102532661C>G | CA427841846 | SLC9A4 | c.2370C>G (p.Ser790=) c.2283C>G (p.Ser761=) | |
2 | g.102532661C>T | CA427841849 | SLC9A4 | c.2370C>T (p.Ser790=) c.2283C>T (p.Ser761=) | |
2 | g.102532661_102532678delinsCCATAGTCCTTTGCTCCA | CA1275308289 | SLC9A4 | c.2370_2387delinsCCATAGTCCTTTGCTCCA (p.Ser790=) c.2283_2300delinsCCATAGTCCTTTGCTCCA (p.Ser761=) | |
2 | g.102532662C>A | CA347952338 | SLC9A4 | c.2371C>A (p.His791Asn) c.2284C>A (p.His762Asn) | |
2 | g.102532662C>G | CA347952340 | SLC9A4 | c.2371C>G (p.His791Asp) c.2284C>G (p.His762Asp) | |
2 | g.102532662C>T | CA347952341 | SLC9A4 | c.2371C>T (p.His791Tyr) c.2284C>T (p.His762Tyr) | gnomAD v4 COSMIC |
2 | g.102532662_102532678del | CA1811431 | SLC9A4 | c.2371_2387del (p.His791LysfsTer?) c.2284_2300del (p.His762LysfsTer?) | dbSNP ExAC gnomAD v2 |
2 | g.102532663A= | CA1275308290 | SLC9A4 | c.2372A= (p.His791=) c.2285A= (p.His762=) | |
2 | g.102532663A>C | CA347952345 | SLC9A4 | c.2372A>C (p.His791Pro) c.2285A>C (p.His762Pro) | |
2 | g.102532663A>G | CA1811433 | SLC9A4 | c.2372A>G (p.His791Arg) c.2285A>G (p.His762Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102532663A>T | CA1811432 | SLC9A4 | c.2372A>T (p.His791Leu) c.2285A>T (p.His762Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102532664T>A | CA347952348 | SLC9A4 | c.2373T>A (p.His791Gln) c.2286T>A (p.His762Gln) |