Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
6 | g.7582934_7587655del | CA2695202641 | |||
6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
6 | g.7584391_7584414del | CA2573140820 | DSP | c.5800_5823del (p.Ile1934_His1941del) c.7129_7152del (p.Ile2377_His2384del) c.5332_5355del (p.Ile1778_His1785del) | ClinVar dbSNP |
6 | g.7584405G>A | CA448716474 | DSP | c.5814G>A (p.Lys1938=) c.7143G>A (p.Lys2381=) c.5346G>A (p.Lys1782=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7584405G>C | CA362692328 | DSP | c.5814G>C (p.Lys1938Asn) c.7143G>C (p.Lys2381Asn) c.5346G>C (p.Lys1782Asn) | dbSNP |
6 | g.7584405G= | CA1608611109 | DSP | c.5814G= (p.Lys1938=) c.7143G= (p.Lys2381=) c.5346G= (p.Lys1782=) | |
6 | g.7584405G>T | CA362692329 | DSP | c.5814G>T (p.Lys1938Asn) c.7143G>T (p.Lys2381Asn) c.5346G>T (p.Lys1782Asn) | |
6 | g.7584406G>A | CA362692330 | DSP | c.5815G>A (p.Glu1939Lys) c.7144G>A (p.Glu2382Lys) c.5347G>A (p.Glu1783Lys) | |
6 | g.7584406G>C | CA362692331 | DSP | c.5815G>C (p.Glu1939Gln) c.7144G>C (p.Glu2382Gln) c.5347G>C (p.Glu1783Gln) | |
6 | g.7584406G>T | CA362692332 | DSP | c.5815G>T (p.Glu1939Ter) c.7144G>T (p.Glu2382Ter) c.5347G>T (p.Glu1783Ter) | |
6 | g.7584407A>C | CA362692333 | DSP | c.5816A>C (p.Glu1939Ala) c.7145A>C (p.Glu2382Ala) c.5348A>C (p.Glu1783Ala) | |
6 | g.7584407A>G | CA362692334 | DSP | c.5816A>G (p.Glu1939Gly) c.7145A>G (p.Glu2382Gly) c.5348A>G (p.Glu1783Gly) | |
6 | g.7584407A>T | CA362692335 | DSP | c.5816A>T (p.Glu1939Val) c.7145A>T (p.Glu2382Val) c.5348A>T (p.Glu1783Val) | |
6 | g.7584407_7584423del | CA2677219518 | DSP | c.5816_5832del (p.Glu1939GlyfsTer2) c.7145_7161del (p.Glu2382GlyfsTer2) c.5348_5364del (p.Glu1783GlyfsTer2) | gnomAD v4 |
6 | g.7584408G>A | CA448716484 | DSP | c.5817G>A (p.Glu1939=) c.7146G>A (p.Glu2382=) c.5349G>A (p.Glu1783=) | |
6 | g.7584408G>C | CA362692336 | DSP | c.5817G>C (p.Glu1939Asp) c.7146G>C (p.Glu2382Asp) c.5349G>C (p.Glu1783Asp) | |
6 | g.7584408G>T | CA362692337 | DSP | c.5817G>T (p.Glu1939Asp) c.7146G>T (p.Glu2382Asp) c.5349G>T (p.Glu1783Asp) | |
6 | g.7584409A>C | CA362692338 | DSP | c.5818A>C (p.Ser1940Arg) c.7147A>C (p.Ser2383Arg) c.5350A>C (p.Ser1784Arg) | |
6 | g.7584409A>G | CA362692339 | DSP | c.5818A>G (p.Ser1940Gly) c.7147A>G (p.Ser2383Gly) c.5350A>G (p.Ser1784Gly) | gnomAD v4 |
6 | g.7584409A>T | CA362692340 | DSP | c.5818A>T (p.Ser1940Cys) c.7147A>T (p.Ser2383Cys) c.5350A>T (p.Ser1784Cys) | |
6 | g.7584410G>A | CA362692341 | DSP | c.5819G>A (p.Ser1940Asn) c.7148G>A (p.Ser2383Asn) c.5351G>A (p.Ser1784Asn) | |
6 | g.7584410G>C | CA362692342 | DSP | c.5819G>C (p.Ser1940Thr) c.7148G>C (p.Ser2383Thr) c.5351G>C (p.Ser1784Thr) | |
6 | g.7584410G>T | CA362692343 | DSP | c.5819G>T (p.Ser1940Ile) c.7148G>T (p.Ser2383Ile) c.5351G>T (p.Ser1784Ile) | |
6 | g.7584411C>A | CA362692344 | DSP | c.5820C>A (p.Ser1940Arg) c.7149C>A (p.Ser2383Arg) c.5352C>A (p.Ser1784Arg) | dbSNP |
6 | g.7584411C>G | CA362692345 | DSP | c.5820C>G (p.Ser1940Arg) c.7149C>G (p.Ser2383Arg) c.5352C>G (p.Ser1784Arg) | |
6 | g.7584411C>T | CA448716497 | DSP | c.5820C>T (p.Ser1940=) c.7149C>T (p.Ser2383=) c.5352C>T (p.Ser1784=) | |
6 | g.7584412C>A | CA362692346 | DSP | c.5821C>A (p.His1941Asn) c.7150C>A (p.His2384Asn) c.5353C>A (p.His1785Asn) | gnomAD v4 |
6 | g.7584412C>G | CA362692347 | DSP | c.5821C>G (p.His1941Asp) c.7150C>G (p.His2384Asp) c.5353C>G (p.His1785Asp) | |
6 | g.7584412C>T | CA362692348 | DSP | c.5821C>T (p.His1941Tyr) c.7150C>T (p.His2384Tyr) c.5353C>T (p.His1785Tyr) | |
6 | g.7584413A>C | CA362692351 | DSP | c.5822A>C (p.His1941Pro) c.7151A>C (p.His2384Pro) c.5354A>C (p.His1785Pro) | |
6 | g.7584413A>G | CA362692350 | DSP | c.5822A>G (p.His1941Arg) c.7151A>G (p.His2384Arg) c.5354A>G (p.His1785Arg) | |
6 | g.7584413A>T | CA362692349 | DSP | c.5822A>T (p.His1941Leu) c.7151A>T (p.His2384Leu) c.5354A>T (p.His1785Leu) | |
6 | g.7584414T>A | CA362692352 | DSP | c.5823T>A (p.His1941Gln) c.7152T>A (p.His2384Gln) c.5355T>A (p.His1785Gln) | |
6 | g.7584414T>C | CA448716520 | DSP | c.5823T>C (p.His1941=) c.7152T>C (p.His2384=) c.5355T>C (p.His1785=) | |
6 | g.7584414T>G | CA362692353 | DSP | c.5823T>G (p.His1941Gln) c.7152T>G (p.His2384Gln) c.5355T>G (p.His1785Gln) | |
6 | g.7584415C>A | CA362692354 | DSP | c.5824C>A (p.Arg1942Ser) c.7153C>A (p.Arg2385Ser) c.5356C>A (p.Arg1786Ser) | gnomAD v4 |
6 | g.7584415C= | CA1608611114 | DSP | c.5824C= (p.Arg1942=) c.7153C= (p.Arg2385=) c.5356C= (p.Arg1786=) | |
6 | g.7584415C>G | CA362692355 | DSP | c.5824C>G (p.Arg1942Gly) c.7153C>G (p.Arg2385Gly) c.5356C>G (p.Arg1786Gly) | |
6 | g.7584415C>T | CA049214 | DSP | c.5824C>T (p.Arg1942Cys) c.7153C>T (p.Arg2385Cys) c.5356C>T (p.Arg1786Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584416G>A | CA362692356 | DSP | c.5825G>A (p.Arg1942His) c.7154G>A (p.Arg2385His) c.5357G>A (p.Arg1786His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.7584416G>C | CA362692357 | DSP | c.5825G>C (p.Arg1942Pro) c.7154G>C (p.Arg2385Pro) c.5357G>C (p.Arg1786Pro) | |
6 | g.7584416G= | CA1608611122 | DSP | c.5825G= (p.Arg1942=) c.7154G= (p.Arg2385=) c.5357G= (p.Arg1786=) | |
6 | g.7584416G>T | CA362692358 | DSP | c.5825G>T (p.Arg1942Leu) c.7154G>T (p.Arg2385Leu) c.5357G>T (p.Arg1786Leu) | |
6 | g.7584417T>A | CA448716532 | DSP | c.5826T>A (p.Arg1942=) c.7155T>A (p.Arg2385=) c.5358T>A (p.Arg1786=) | |
6 | g.7584417T>C | CA448716534 | DSP | c.5826T>C (p.Arg1942=) c.7155T>C (p.Arg2385=) c.5358T>C (p.Arg1786=) | |
6 | g.7584417T>G | CA448716533 | DSP | c.5826T>G (p.Arg1942=) c.7155T>G (p.Arg2385=) c.5358T>G (p.Arg1786=) | |
6 | g.7584418T>A | CA362692359 | DSP | c.5827T>A (p.Leu1943Ile) c.7156T>A (p.Leu2386Ile) c.5359T>A (p.Leu1787Ile) | |
6 | g.7584418T>C | CA448716536 | DSP | c.5827T>C (p.Leu1943=) c.7156T>C (p.Leu2386=) c.5359T>C (p.Leu1787=) | gnomAD v4 |