Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44379793T>A | CA399801920 | ITGA2B | c.1774A>T (p.Lys592Ter) c.1205A>T n.569A>T | |
17 | g.44379793T>C | CA399801921 | ITGA2B | c.1774A>G (p.Lys592Glu) c.1205A>G n.569A>G | gnomAD v4 |
17 | g.44379793T>G | CA399801922 | ITGA2B | c.1774A>C (p.Lys592Gln) c.1205A>C n.569A>C | |
17 | g.44379794G>A | CA500272195 | ITGA2B | c.1773C>T (p.Asp591=) c.1204C>T n.568C>T | |
17 | g.44379794G>C | CA399801924 | ITGA2B | c.1773C>G (p.Asp591Glu) c.1204C>G n.568C>G | dbSNP gnomAD v4 |
17 | g.44379794G= | CA2261367806 | ITGA2B | c.1773C= (p.Asp591=) c.1204C= n.568C= | |
17 | g.44379794G>T | CA399801923 | ITGA2B | c.1773C>A (p.Asp591Glu) c.1204C>A n.568C>A | |
17 | g.44379795T>A | CA399801925 | ITGA2B | c.1772A>T (p.Asp591Val) c.1203A>T n.567A>T | |
17 | g.44379795T>C | CA399801926 | ITGA2B | c.1772A>G (p.Asp591Gly) c.1203A>G n.567A>G | |
17 | g.44379795T>G | CA8602942 | ITGA2B | c.1772A>C (p.Asp591Ala) c.1203A>C n.567A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379795T= | CA2261367807 | ITGA2B | c.1772A= (p.Asp591=) c.1203A= n.567A= | |
17 | g.44379796C>A | CA399801927 | ITGA2B | c.1771G>T (p.Asp591Tyr) c.1202G>T n.566G>T | |
17 | g.44379796C>G | CA399801928 | ITGA2B | c.1771G>C (p.Asp591His) c.1202G>C n.566G>C | gnomAD v4 |
17 | g.44379796C>T | CA399801929 | ITGA2B | c.1771G>A (p.Asp591Asn) c.1202G>A n.566G>A | gnomAD v4 |
17 | g.44379798dup | CA915940334 | ITGA2B | c.1771dup (p.Asp591GlyfsTer?) c.1202dup n.566dup | ClinVar |
17 | g.44379797C>A | CA500272214 | ITGA2B | c.1770G>T (p.Arg590=) c.1201G>T n.565G>T | |
17 | g.44379797C= | CA2261367808 | ITGA2B | c.1770G= (p.Arg590=) c.1201G= n.565G= | |
17 | g.44379797C>G | CA500272218 | ITGA2B | c.1770G>C (p.Arg590=) c.1201G>C n.565G>C | |
17 | g.44379797C>T | CA500272219 | ITGA2B | c.1770G>A (p.Arg590=) c.1201G>A n.565G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44379798C>A | CA399801930 | ITGA2B | c.1769G>T (p.Arg590Leu) c.1200G>T n.564G>T | |
17 | g.44379798C= | CA2261367809 | ITGA2B | c.1769G= (p.Arg590=) c.1200G= n.564G= | |
17 | g.44379798C>G | CA399801931 | ITGA2B | c.1769G>C (p.Arg590Pro) c.1200G>C n.564G>C | |
17 | g.44379798C>T | CA8602943 | ITGA2B | c.1769G>A (p.Arg590Gln) c.1200G>A n.564G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.44379799G>A | CA8602944 | ITGA2B | c.1768C>T (p.Arg590Trp) c.1199C>T n.563C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.44379799G>C | CA399801932 | ITGA2B | c.1768C>G (p.Arg590Gly) c.1199C>G n.563C>G | |
17 | g.44379799G= | CA2261367810 | ITGA2B | c.1768C= (p.Arg590=) c.1199C= n.563C= | |
17 | g.44379799G>T | CA500272231 | ITGA2B | c.1768C>A (p.Arg590=) c.1199C>A n.563C>A | |
17 | g.44379800G>A | CA500272238 | ITGA2B | c.1767C>T (p.Phe589=) c.1198C>T n.562C>T | COSMIC |
17 | g.44379800G>C | CA399801933 | ITGA2B | c.1767C>G (p.Phe589Leu) c.1198C>G n.562C>G | |
17 | g.44379800G>T | CA399801935 | ITGA2B | c.1767C>A (p.Phe589Leu) c.1198C>A n.562C>A | |
17 | g.44379801A>C | CA399801939 | ITGA2B | c.1766T>G (p.Phe589Cys) c.1197T>G n.561T>G | |
17 | g.44379801A>G | CA399801938 | ITGA2B | c.1766T>C (p.Phe589Ser) c.1197T>C n.561T>C | |
17 | g.44379801A>T | CA399801937 | ITGA2B | c.1766T>A (p.Phe589Tyr) c.1197T>A n.561T>A | |
17 | g.44379802A>C | CA399801942 | ITGA2B | c.1765T>G (p.Phe589Val) c.1196T>G n.560T>G | |
17 | g.44379802A>G | CA399801940 | ITGA2B | c.1765T>C (p.Phe589Leu) c.1196T>C n.560T>C | |
17 | g.44379802A>T | CA399801941 | ITGA2B | c.1765T>A (p.Phe589Ile) c.1196T>A n.560T>A | |
17 | g.44379803G>A | CA500272255 | ITGA2B | c.1764C>T (p.Asp588=) c.1195C>T n.559C>T | |
17 | g.44379803G>C | CA399801944 | ITGA2B | c.1764C>G (p.Asp588Glu) c.1195C>G n.559C>G | |
17 | g.44379803G>T | CA399801947 | ITGA2B | c.1764C>A (p.Asp588Glu) c.1195C>A n.559C>A | gnomAD v4 |
17 | g.44379804T>A | CA399801948 | ITGA2B | c.1763A>T (p.Asp588Val) c.1194A>T n.558A>T | |
17 | g.44379804T>C | CA399801951 | ITGA2B | c.1763A>G (p.Asp588Gly) c.1194A>G n.558A>G | |
17 | g.44379804T>G | CA399801953 | ITGA2B | c.1763A>C (p.Asp588Ala) c.1194A>C n.558A>C | |
17 | g.44379805C>A | CA399801955 | ITGA2B | c.1762G>T (p.Asp588Tyr) c.1193G>T n.557G>T | |
17 | g.44379805C= | CA2261367811 | ITGA2B | c.1762G= (p.Asp588=) c.1193G= n.557G= | |
17 | g.44379805C>G | CA8602945 | ITGA2B | c.1762G>C (p.Asp588His) c.1193G>C n.557G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379805C>T | CA399801959 | ITGA2B | c.1762G>A (p.Asp588Asn) c.1193G>A n.557G>A | |
17 | g.44379806T>A | CA500272268 | ITGA2B | c.1761A>T (p.Ala587=) c.1192A>T n.556A>T | |
17 | g.44379806T>C | CA500272271 | ITGA2B | c.1761A>G (p.Ala587=) c.1192A>G n.556A>G | |
17 | g.44379806T>G | CA500272269 | ITGA2B | c.1761A>C (p.Ala587=) c.1192A>C n.556A>C | |
17 | g.44379807G>A | CA399801962 | ITGA2B | c.1760C>T (p.Ala587Val) c.1191C>T n.555C>T | dbSNP gnomAD v4 |