| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44379780del | CA2638217484 | ITGA2B | c.1788del (p.Ile596MetfsTer?) c.1219del n.583del | gnomAD v4 |
| 17 | g.44379780A= | CA2261367801 | ITGA2B | c.1787T= (p.Ile596=) c.1218T= n.582T= | |
| 17 | g.44379780A>C | CA399801893 | ITGA2B | c.1787T>G (p.Ile596Ser) c.1218T>G n.582T>G | |
| 17 | g.44379780A>G | CA115846 | ITGA2B | c.1787T>C (p.Ile596Thr) c.1218T>C n.582T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44379780A>T | CA399801894 | ITGA2B | c.1787T>A (p.Ile596Asn) c.1218T>A n.582T>A | dbSNP |
| 17 | g.44379781T>A | CA399801895 | ITGA2B | c.1786A>T (p.Ile596Phe) c.1217A>T n.581A>T | |
| 17 | g.44379781T>C | CA399801897 | ITGA2B | c.1786A>G (p.Ile596Val) c.1217A>G n.581A>G | dbSNP gnomAD v4 |
| 17 | g.44379781T>G | CA399801896 | ITGA2B | c.1786A>C (p.Ile596Leu) c.1217A>C n.581A>C | |
| 17 | g.44379781T= | CA2261367802 | ITGA2B | c.1786A= (p.Ile596=) c.1217A= n.581A= | |
| 17 | g.44379782G>A | CA500272104 | ITGA2B | c.1785C>T (p.Pro595=) c.1216C>T n.580C>T | gnomAD v4 |
| 17 | g.44379782G>C | CA500272107 | ITGA2B | c.1785C>G (p.Pro595=) c.1216C>G n.580C>G | |
| 17 | g.44379782G>T | CA500272111 | ITGA2B | c.1785C>A (p.Pro595=) c.1216C>A n.580C>A | |
| 17 | g.44379783G>A | CA399801898 | ITGA2B | c.1784C>T (p.Pro595Leu) c.1215C>T n.579C>T | |
| 17 | g.44379783G>C | CA399801899 | ITGA2B | c.1784C>G (p.Pro595Arg) c.1215C>G n.579C>G | |
| 17 | g.44379783G>T | CA399801900 | ITGA2B | c.1784C>A (p.Pro595His) c.1215C>A n.579C>A | |
| 17 | g.44379784G>A | CA399801901 | ITGA2B | c.1783C>T (p.Pro595Ser) c.1214C>T n.578C>T | |
| 17 | g.44379784G>C | CA399801902 | ITGA2B | c.1783C>G (p.Pro595Ala) c.1214C>G n.578C>G | gnomAD v4 |
| 17 | g.44379784G>T | CA399801903 | ITGA2B | c.1783C>A (p.Pro595Thr) c.1214C>A n.578C>A | |
| 17 | g.44379785G>A | CA500272125 | ITGA2B | c.1782C>T (p.Ser594=) c.1213C>T n.577C>T | gnomAD v4 COSMIC |
| 17 | g.44379785G>C | CA399801904 | ITGA2B | c.1782C>G (p.Ser594Arg) c.1213C>G n.577C>G | |
| 17 | g.44379785G>T | CA399801905 | ITGA2B | c.1782C>A (p.Ser594Arg) c.1213C>A n.577C>A | |
| 17 | g.44379786C>A | CA399801906 | ITGA2B | c.1781G>T (p.Ser594Ile) c.1212G>T n.576G>T | |
| 17 | g.44379786C>G | CA399801907 | ITGA2B | c.1781G>C (p.Ser594Thr) c.1212G>C n.576G>C | |
| 17 | g.44379786C>T | CA399801908 | ITGA2B | c.1781G>A (p.Ser594Asn) c.1212G>A n.576G>A | gnomAD v4 |
| 17 | g.44379787T>A | CA399801910 | ITGA2B | c.1780A>T (p.Ser594Cys) c.1211A>T n.575A>T | |
| 17 | g.44379787T>C | CA399801911 | ITGA2B | c.1780A>G (p.Ser594Gly) c.1211A>G n.575A>G | |
| 17 | g.44379787T>G | CA399801909 | ITGA2B | c.1780A>C (p.Ser594Arg) c.1211A>C n.575A>C | |
| 17 | g.44379788C>A | CA500272137 | ITGA2B | c.1779G>T (p.Leu593=) c.1210G>T n.574G>T | |
| 17 | g.44379788C= | CA2261367803 | ITGA2B | c.1779G= (p.Leu593=) c.1210G= n.574G= | |
| 17 | g.44379788C>G | CA8602941 | ITGA2B | c.1779G>C (p.Leu593=) c.1210G>C n.574G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44379788C>T | CA500272139 | ITGA2B | c.1779G>A (p.Leu593=) c.1210G>A n.574G>A | |
| 17 | g.44379789A>C | CA399801912 | ITGA2B | c.1778T>G (p.Leu593Arg) c.1209T>G n.573T>G | |
| 17 | g.44379789A>G | CA399801913 | ITGA2B | c.1778T>C (p.Leu593Pro) c.1209T>C n.573T>C | |
| 17 | g.44379789A>T | CA399801914 | ITGA2B | c.1778T>A (p.Leu593Gln) c.1209T>A n.573T>A | |
| 17 | g.44379790G>A | CA500272147 | ITGA2B | c.1777C>T (p.Leu593=) c.1208C>T n.572C>T | gnomAD v4 |
| 17 | g.44379790G>C | CA290949643 | ITGA2B | c.1777C>G (p.Leu593Val) c.1208C>G n.572C>G | dbSNP gnomAD v2 |
| 17 | g.44379790G= | CA2261367804 | ITGA2B | c.1777C= (p.Leu593=) c.1208C= n.572C= | |
| 17 | g.44379790G>T | CA399801915 | ITGA2B | c.1777C>A (p.Leu593Met) c.1208C>A n.572C>A | |
| 17 | g.44379791C>A | CA290949646 | ITGA2B | c.1776G>T (p.Lys592Asn) c.1207G>T n.571G>T | dbSNP |
| 17 | g.44379791C= | CA2261367805 | ITGA2B | c.1776G= (p.Lys592=) c.1207G= n.571G= | |
| 17 | g.44379791C>G | CA399801916 | ITGA2B | c.1776G>C (p.Lys592Asn) c.1207G>C n.571G>C | |
| 17 | g.44379791C>T | CA500272167 | ITGA2B | c.1776G>A (p.Lys592=) c.1207G>A n.571G>A | |
| 17 | g.44379792T>A | CA399801917 | ITGA2B | c.1775A>T (p.Lys592Met) c.1206A>T n.570A>T | |
| 17 | g.44379792T>C | CA399801918 | ITGA2B | c.1775A>G (p.Lys592Arg) c.1206A>G n.570A>G | |
| 17 | g.44379792T>G | CA399801919 | ITGA2B | c.1775A>C (p.Lys592Thr) c.1206A>C n.570A>C | |
| 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 |