Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209623905C>A | CA344588797 | LAMB3 | c.2072G>T (p.Gly691Val) c.1880G>T (p.Gly627Val) | |
1 | g.209623905C= | CA2484298427 | LAMB3 | c.2072G= (p.Gly691=) c.1880G= (p.Gly627=) | |
1 | g.209623905C>G | CA344588798 | LAMB3 | c.2072G>C (p.Gly691Ala) c.1880G>C (p.Gly627Ala) | |
1 | g.209623905C>T | CA1375390 | LAMB3 | c.2072G>A (p.Gly691Asp) c.1880G>A (p.Gly627Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.209623906C>A | CA344588799 | LAMB3 | c.2071G>T (p.Gly691Cys) c.1879G>T (p.Gly627Cys) | gnomAD v4 |
1 | g.209623906C= | CA1141998374 | LAMB3 | c.2071G= (p.Gly691=) c.1879G= (p.Gly627=) | |
1 | g.209623906C>G | CA344588800 | LAMB3 | c.2071G>C (p.Gly691Arg) c.1879G>C (p.Gly627Arg) | |
1 | g.209623906C>T | CA1375391 | LAMB3 | c.2071G>A (p.Gly691Ser) c.1879G>A (p.Gly627Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209623907A= | CA2484298428 | LAMB3 | c.2070T= (p.Asn690=) c.1878T= (p.Asn626=) | |
1 | g.209623907A>C | CA344588801 | LAMB3 | c.2070T>G (p.Asn690Lys) c.1878T>G (p.Asn626Lys) | |
1 | g.209623907A>G | CA423142343 | LAMB3 | c.2070T>C (p.Asn690=) c.1878T>C (p.Asn626=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209623907A>T | CA344588802 | LAMB3 | c.2070T>A (p.Asn690Lys) c.1878T>A (p.Asn626Lys) | |
1 | g.209623908T>A | CA344588803 | LAMB3 | c.2069A>T (p.Asn690Ile) c.1877A>T (p.Asn626Ile) | |
1 | g.209623908T>C | CA1375392 | LAMB3 | c.2069A>G (p.Asn690Ser) c.1877A>G (p.Asn626Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209623908T>G | CA344588804 | LAMB3 | c.2069A>C (p.Asn690Thr) c.1877A>C (p.Asn626Thr) | dbSNP |
1 | g.209623908T= | CA1139922145 | LAMB3 | c.2069A= (p.Asn690=) c.1877A= (p.Asn626=) | |
1 | g.209623909T>A | CA344588806 | LAMB3 | c.2068A>T (p.Asn690Tyr) c.1876A>T (p.Asn626Tyr) | |
1 | g.209623909T>C | CA344588807 | LAMB3 | c.2068A>G (p.Asn690Asp) c.1876A>G (p.Asn626Asp) | |
1 | g.209623909T>G | CA344588805 | LAMB3 | c.2068A>C (p.Asn690His) c.1876A>C (p.Asn626His) | |
1 | g.209623910G>A | CA423142349 | LAMB3 | c.2067C>T (p.Phe689=) c.1875C>T (p.Phe625=) | |
1 | g.209623910G>C | CA344588809 | LAMB3 | c.2067C>G (p.Phe689Leu) c.1875C>G (p.Phe625Leu) | |
1 | g.209623910G>T | CA344588808 | LAMB3 | c.2067C>A (p.Phe689Leu) c.1875C>A (p.Phe625Leu) | |
1 | g.209623911A= | CA1142286285 | LAMB3 | c.2066T= (p.Phe689=) c.1874T= (p.Phe625=) | |
1 | g.209623911A>C | CA344588810 | LAMB3 | c.2066T>G (p.Phe689Cys) c.1874T>G (p.Phe625Cys) | |
1 | g.209623911A>G | CA1375393 | LAMB3 | c.2066T>C (p.Phe689Ser) c.1874T>C (p.Phe625Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209623911A>T | CA344588811 | LAMB3 | c.2066T>A (p.Phe689Tyr) c.1874T>A (p.Phe625Tyr) | |
1 | g.209623912A>C | CA344588812 | LAMB3 | c.2065T>G (p.Phe689Val) c.1873T>G (p.Phe625Val) | |
1 | g.209623912A>G | CA344588813 | LAMB3 | c.2065T>C (p.Phe689Leu) c.1873T>C (p.Phe625Leu) | |
1 | g.209623912A>T | CA344588814 | LAMB3 | c.2065T>A (p.Phe689Ile) c.1873T>A (p.Phe625Ile) | |
1 | g.209623913G>A | CA423142359 | LAMB3 | c.2064C>T (p.Ser688=) c.1872C>T (p.Ser624=) | gnomAD v4 |
1 | g.209623913G>C | CA344588815 | LAMB3 | c.2064C>G (p.Ser688Arg) c.1872C>G (p.Ser624Arg) | |
1 | g.209623913G>T | CA344588816 | LAMB3 | c.2064C>A (p.Ser688Arg) c.1872C>A (p.Ser624Arg) | |
1 | g.209623914C>A | CA344588817 | LAMB3 | c.2063G>T (p.Ser688Ile) c.1871G>T (p.Ser624Ile) | |
1 | g.209623914C= | CA1146103806 | LAMB3 | c.2063G= (p.Ser688=) c.1871G= (p.Ser624=) | |
1 | g.209623914C>G | CA344588818 | LAMB3 | c.2063G>C (p.Ser688Thr) c.1871G>C (p.Ser624Thr) | |
1 | g.209623914C>T | CA1375394 | LAMB3 | c.2063G>A (p.Ser688Asn) c.1871G>A (p.Ser624Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209623915T>A | CA344588819 | LAMB3 | c.2062A>T (p.Ser688Cys) c.1870A>T (p.Ser624Cys) | |
1 | g.209623915T>C | CA344588820 | LAMB3 | c.2062A>G (p.Ser688Gly) c.1870A>G (p.Ser624Gly) | |
1 | g.209623915T>G | CA344588821 | LAMB3 | c.2062A>C (p.Ser688Arg) c.1870A>C (p.Ser624Arg) | |
1 | g.209623916T>A | CA344588822 | LAMB3 | c.2061A>T (p.Arg687Ser) c.1869A>T (p.Arg623Ser) | |
1 | g.209623916T>C | CA423142370 | LAMB3 | c.2061A>G (p.Arg687=) c.1869A>G (p.Arg623=) | |
1 | g.209623916T>G | CA344588823 | LAMB3 | c.2061A>C (p.Arg687Ser) c.1869A>C (p.Arg623Ser) | |
1 | g.209623917C>A | CA344588824 | LAMB3 | c.2060G>T (p.Arg687Ile) c.1868G>T (p.Arg623Ile) | dbSNP gnomAD v2 |
1 | g.209623917C= | CA2484298429 | LAMB3 | c.2060G= (p.Arg687=) c.1868G= (p.Arg623=) | |
1 | g.209623917C>G | CA344588825 | LAMB3 | c.2060G>C (p.Arg687Thr) c.1868G>C (p.Arg623Thr) | |
1 | g.209623917C>T | CA344588826 | LAMB3 | c.2060G>A (p.Arg687Lys) c.1868G>A (p.Arg623Lys) | |
1 | g.209623918T>A | CA344588827 | LAMB3 | c.2059A>T (p.Arg687Ter) c.1867A>T (p.Arg623Ter) | |
1 | g.209623918T>C | CA344588828 | LAMB3 | c.2059A>G (p.Arg687Gly) c.1867A>G (p.Arg623Gly) | gnomAD v4 |
1 | g.209623918T>G | CA423142372 | LAMB3 | c.2059A>C (p.Arg687=) c.1867A>C (p.Arg623=) | ClinVar |
1 | g.209623919G>A | CA423142374 | LAMB3 | c.2058C>T (p.Asp686=) c.1866C>T (p.Asp622=) | COSMIC |