Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209623873_209623879del | CA2573998099 | LAMB3 | c.2100_2106del (p.Arg700SerfsTer5) c.1908_1914del (p.Arg636SerfsTer5) | |
1 | g.209623877_209623888delinsT | CA2580061977 | LAMB3 | c.2089_2100delinsA (p.Gln697ArgfsTer4) c.1897_1908delinsA (p.Gln633ArgfsTer4) | ClinVar |
1 | g.209623879T>A | CA344588741 | LAMB3 | c.2098A>T (p.Arg700Trp) c.1906A>T (p.Arg636Trp) | |
1 | g.209623879T>C | CA1375384 | LAMB3 | c.2098A>G (p.Arg700Gly) c.1906A>G (p.Arg636Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209623879T>G | CA423142225 | LAMB3 | c.2098A>C (p.Arg700=) c.1906A>C (p.Arg636=) | |
1 | g.209623879T= | CA1144041457 | LAMB3 | c.2098A= (p.Arg700=) c.1906A= (p.Arg636=) | |
1 | g.209623880C>A | CA344588742 | LAMB3 | c.2097G>T (p.Lys699Asn) c.1905G>T (p.Lys635Asn) | |
1 | g.209623880C= | CA2484298420 | LAMB3 | c.2097G= (p.Lys699=) c.1905G= (p.Lys635=) | |
1 | g.209623880C>G | CA344588743 | LAMB3 | c.2097G>C (p.Lys699Asn) c.1905G>C (p.Lys635Asn) | dbSNP |
1 | g.209623880C>T | CA423142227 | LAMB3 | c.2097G>A (p.Lys699=) c.1905G>A (p.Lys635=) | |
1 | g.209623881T>A | CA344588744 | LAMB3 | c.2096A>T (p.Lys699Met) c.1904A>T (p.Lys635Met) | |
1 | g.209623881T>C | CA344588745 | LAMB3 | c.2096A>G (p.Lys699Arg) c.1904A>G (p.Lys635Arg) | |
1 | g.209623881T>G | CA344588746 | LAMB3 | c.2096A>C (p.Lys699Thr) c.1904A>C (p.Lys635Thr) | |
1 | g.209623882T>A | CA344588747 | LAMB3 | c.2095A>T (p.Lys699Ter) c.1903A>T (p.Lys635Ter) | COSMIC |
1 | g.209623882T>C | CA344588748 | LAMB3 | c.2095A>G (p.Lys699Glu) c.1903A>G (p.Lys635Glu) | |
1 | g.209623882T>G | CA344588749 | LAMB3 | c.2095A>C (p.Lys699Gln) c.1903A>C (p.Lys635Gln) | |
1 | g.209623883C>A | CA344588750 | LAMB3 | c.2094G>T (p.Arg698Ser) c.1902G>T (p.Arg634Ser) | |
1 | g.209623883C= | CA1141483169 | LAMB3 | c.2094G= (p.Arg698=) c.1902G= (p.Arg634=) | |
1 | g.209623883C>G | CA344588751 | LAMB3 | c.2094G>C (p.Arg698Ser) c.1902G>C (p.Arg634Ser) | |
1 | g.209623883C>T | CA1375385 | LAMB3 | c.2094G>A (p.Arg698=) c.1902G>A (p.Arg634=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209623884C>A | CA344588754 | LAMB3 | c.2093G>T (p.Arg698Met) c.1901G>T (p.Arg634Met) | |
1 | g.209623884C>G | CA344588753 | LAMB3 | c.2093G>C (p.Arg698Thr) c.1901G>C (p.Arg634Thr) | |
1 | g.209623884C>T | CA344588752 | LAMB3 | c.2093G>A (p.Arg698Lys) c.1901G>A (p.Arg634Lys) | gnomAD v4 |
1 | g.209623885T>A | CA344588755 | LAMB3 | c.2092A>T (p.Arg698Trp) c.1900A>T (p.Arg634Trp) | |
1 | g.209623885T>C | CA344588756 | LAMB3 | c.2092A>G (p.Arg698Gly) c.1900A>G (p.Arg634Gly) | |
1 | g.209623885T>G | CA423142251 | LAMB3 | c.2092A>C (p.Arg698=) c.1900A>C (p.Arg634=) | |
1 | g.209623886C>A | CA344588757 | LAMB3 | c.2091G>T (p.Gln697His) c.1899G>T (p.Gln633His) | |
1 | g.209623886C>G | CA344588758 | LAMB3 | c.2091G>C (p.Gln697His) c.1899G>C (p.Gln633His) | dbSNP |
1 | g.209623886C>T | CA423142252 | LAMB3 | c.2091G>A (p.Gln697=) c.1899G>A (p.Gln633=) | COSMIC |
1 | g.209623887T>A | CA344588759 | LAMB3 | c.2090A>T (p.Gln697Leu) c.1898A>T (p.Gln633Leu) | |
1 | g.209623887T>C | CA344588760 | LAMB3 | c.2090A>G (p.Gln697Arg) c.1898A>G (p.Gln633Arg) | |
1 | g.209623887T>G | CA344588761 | LAMB3 | c.2090A>C (p.Gln697Pro) c.1898A>C (p.Gln633Pro) | |
1 | g.209623888G>A | CA344588762 | LAMB3 | c.2089C>T (p.Gln697Ter) c.1897C>T (p.Gln633Ter) | |
1 | g.209623888G>C | CA344588763 | LAMB3 | c.2089C>G (p.Gln697Glu) c.1897C>G (p.Gln633Glu) | |
1 | g.209623888G>T | CA344588764 | LAMB3 | c.2089C>A (p.Gln697Lys) c.1897C>A (p.Gln633Lys) | |
1 | g.209623889A= | CA2484298421 | LAMB3 | c.2088T= (p.Tyr696=) c.1896T= (p.Tyr632=) | |
1 | g.209623889A>C | CA344588765 | LAMB3 | c.2088T>G (p.Tyr696Ter) c.1896T>G (p.Tyr632Ter) | |
1 | g.209623889A>G | CA423142262 | LAMB3 | c.2088T>C (p.Tyr696=) c.1896T>C (p.Tyr632=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209623889A>T | CA344588766 | LAMB3 | c.2088T>A (p.Tyr696Ter) c.1896T>A (p.Tyr632Ter) | |
1 | g.209623890T>A | CA344588767 | LAMB3 | c.2087A>T (p.Tyr696Phe) c.1895A>T (p.Tyr632Phe) | |
1 | g.209623890T>C | CA344588768 | LAMB3 | c.2087A>G (p.Tyr696Cys) c.1895A>G (p.Tyr632Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209623890T>G | CA344588769 | LAMB3 | c.2087A>C (p.Tyr696Ser) c.1895A>C (p.Tyr632Ser) | |
1 | g.209623890T= | CA2484298422 | LAMB3 | c.2087A= (p.Tyr696=) c.1895A= (p.Tyr632=) | |
1 | g.209623891A>C | CA344588770 | LAMB3 | c.2086T>G (p.Tyr696Asp) c.1894T>G (p.Tyr632Asp) | gnomAD v4 |
1 | g.209623891A>G | CA344588772 | LAMB3 | c.2086T>C (p.Tyr696His) c.1894T>C (p.Tyr632His) | |
1 | g.209623891A>T | CA344588771 | LAMB3 | c.2086T>A (p.Tyr696Asn) c.1894T>A (p.Tyr632Asn) | |
1 | g.209623892C>A | CA344588773 | LAMB3 | c.2085G>T (p.Met695Ile) c.1893G>T (p.Met631Ile) | |
1 | g.209623892C= | CA2484298423 | LAMB3 | c.2085G= (p.Met695=) c.1893G= (p.Met631=) | |
1 | g.209623892C>G | CA344588774 | LAMB3 | c.2085G>C (p.Met695Ile) c.1893G>C (p.Met631Ile) | |
1 | g.209623892C>T | CA1375386 | LAMB3 | c.2085G>A (p.Met695Ile) c.1893G>A (p.Met631Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |