Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.44379807G>C | CA399801964 | ITGA2B | c.1760C>G (p.Ala587Gly) c.1191C>G n.555C>G | dbSNP gnomAD v2 |
17 | g.44379807G= | CA2261367812 | ITGA2B | c.1760C= (p.Ala587=) c.1191C= n.555C= | |
17 | g.44379807G>T | CA399801966 | ITGA2B | c.1760C>A (p.Ala587Glu) c.1191C>A n.555C>A | |
17 | g.44379808C>A | CA399801977 | ITGA2B | c.1759G>T (p.Ala587Ser) c.1190G>T n.554G>T | |
17 | g.44379808C>G | CA399801969 | ITGA2B | c.1759G>C (p.Ala587Pro) c.1190G>C n.554G>C | |
17 | g.44379808C>T | CA399801975 | ITGA2B | c.1759G>A (p.Ala587Thr) c.1190G>A n.554G>A | |
17 | g.44379809C>A | CA399801979 | ITGA2B | c.1758G>T (p.Glu586Asp) c.1189G>T n.553G>T | |
17 | g.44379809C>G | CA399801981 | ITGA2B | c.1758G>C (p.Glu586Asp) c.1189G>C n.553G>C | |
17 | g.44379809C>T | CA500272288 | ITGA2B | c.1758G>A (p.Glu586=) c.1189G>A n.553G>A | |
17 | g.44379810T>A | CA399801985 | ITGA2B | c.1757A>T (p.Glu586Val) c.1188A>T n.552A>T | |
17 | g.44379810T>C | CA399801986 | ITGA2B | c.1757A>G (p.Glu586Gly) c.1188A>G n.552A>G | |
17 | g.44379810T>G | CA399801988 | ITGA2B | c.1757A>C (p.Glu586Ala) c.1188A>C n.552A>C | gnomAD v4 |
17 | g.44379811C>A | CA399801991 | ITGA2B | c.1756G>T (p.Glu586Ter) c.1187G>T n.551G>T | |
17 | g.44379811C= | CA2261367813 | ITGA2B | c.1756G= (p.Glu586=) c.1187G= n.551G= | |
17 | g.44379811C>G | CA399801993 | ITGA2B | c.1756G>C (p.Glu586Gln) c.1187G>C n.551G>C | |
17 | g.44379811C>T | CA399801995 | ITGA2B | c.1756G>A (p.Glu586Lys) c.1187G>A n.551G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379812A>C | CA399801997 | ITGA2B | c.1755T>G (p.Asp585Glu) c.1186T>G n.550T>G | |
17 | g.44379812A>G | CA500272320 | ITGA2B | c.1755T>C (p.Asp585=) c.1186T>C n.550T>C | |
17 | g.44379812A>T | CA399801999 | ITGA2B | c.1755T>A (p.Asp585Glu) c.1186T>A n.550T>A | |
17 | g.44379813T>A | CA399802002 | ITGA2B | c.1754A>T (p.Asp585Val) c.1185A>T n.549A>T | |
17 | g.44379813T>C | CA399802003 | ITGA2B | c.1754A>G (p.Asp585Gly) c.1185A>G n.549A>G | |
17 | g.44379813T>G | CA399802004 | ITGA2B | c.1754A>C (p.Asp585Ala) c.1185A>C n.549A>C | |
17 | g.44379814C>A | CA399802009 | ITGA2B | c.1753G>T (p.Asp585Tyr) c.1184G>T n.548G>T | |
17 | g.44379814C>G | CA399802010 | ITGA2B | c.1753G>C (p.Asp585His) c.1184G>C n.548G>C | |
17 | g.44379814C>T | CA399802007 | ITGA2B | c.1753G>A (p.Asp585Asn) c.1184G>A n.548G>A | |
17 | g.44379815C>A | CA399802014 | ITGA2B | c.1753-1G>T (n.1753-1G>T) c.1184-1G>T n.548-1G>T | |
17 | g.44379815C= | CA2261367814 | ITGA2B | c.1753-1G= (n.1753-1G=) c.1184-1G= n.548-1G= | |
17 | g.44379815C>G | CA399802018 | ITGA2B | c.1753-1G>C (n.1753-1G>C) c.1184-1G>C n.548-1G>C | |
17 | g.44379815C>T | CA399802017 | ITGA2B | c.1753-1G>A (n.1753-1G>A) c.1184-1G>A n.548-1G>A | ClinVar dbSNP gnomAD v4 |
17 | g.44379816T>A | CA399802020 | ITGA2B | c.1753-2A>T (n.1753-2A>T) c.1184-2A>T n.548-2A>T | |
17 | g.44379816T>C | CA399802022 | ITGA2B | c.1753-2A>G (n.1753-2A>G) c.1184-2A>G n.548-2A>G | |
17 | g.44379816T>G | CA399802025 | ITGA2B | c.1753-2A>C (n.1753-2A>C) c.1184-2A>C n.548-2A>C | |
17 | g.44379817A= | CA2261367815 | ITGA2B | c.1753-3T= (n.1753-3T=) c.1184-3T= n.548-3T= | |
17 | g.44379817A>C | CA2594317628 | ITGA2B | c.1753-3T>G (n.1753-3T>G) c.1184-3T>G n.548-3T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44379817A>G | CA2261367816 | ITGA2B | c.1753-3T>C (n.1753-3T>C) c.1184-3T>C n.548-3T>C | dbSNP gnomAD v4 |
17 | g.44379817A>T | CA8602946 | ITGA2B | c.1753-3T>A (n.1753-3T>A) c.1184-3T>A n.548-3T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |