| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44375039C>A | CA290946484 | ITGA2B | c.2800G>T (p.Val934Phe) c.2231G>T c.253+794G>T n.2074G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.44375039C= | CA2261365548 | ITGA2B | c.2800G= (p.Val934=) c.2231G= c.253+794G= n.2074G= | |
| 17 | g.44375039C>G | CA399791823 | ITGA2B | c.2800G>C (p.Val934Leu) c.2231G>C c.253+794G>C n.2074G>C | |
| 17 | g.44375039C>T | CA399791826 | ITGA2B | c.2800G>A (p.Val934Ile) c.2231G>A c.253+794G>A n.2074G>A | |
| 17 | g.44375040C>A | CA399791831 | ITGA2B | c.2799G>T (p.Met933Ile) c.2230G>T c.253+793G>T n.2073G>T | gnomAD v4 |
| 17 | g.44375040C>G | CA399791833 | ITGA2B | c.2799G>C (p.Met933Ile) c.2230G>C c.253+793G>C n.2073G>C | |
| 17 | g.44375040C>T | CA399791836 | ITGA2B | c.2799G>A (p.Met933Ile) c.2230G>A c.253+793G>A n.2073G>A | gnomAD v4 |
| 17 | g.44375041A>C | CA399791840 | ITGA2B | c.2798T>G (p.Met933Arg) c.2229T>G c.253+792T>G n.2072T>G | |
| 17 | g.44375041A>G | CA399791843 | ITGA2B | c.2798T>C (p.Met933Thr) c.2229T>C c.253+792T>C n.2072T>C | gnomAD v4 |
| 17 | g.44375041A>T | CA399791846 | ITGA2B | c.2798T>A (p.Met933Lys) c.2229T>A c.253+792T>A n.2072T>A | |
| 17 | g.44375042T>A | CA399791854 | ITGA2B | c.2797A>T (p.Met933Leu) c.2228A>T c.253+791A>T n.2071A>T | dbSNP gnomAD v2 |
| 17 | g.44375042T>C | CA399791857 | ITGA2B | c.2797A>G (p.Met933Val) c.2228A>G c.253+791A>G n.2071A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44375042T>G | CA399791851 | ITGA2B | c.2797A>C (p.Met933Leu) c.2228A>C c.253+791A>C n.2071A>C | |
| 17 | g.44375042T= | CA2261365549 | ITGA2B | c.2797A= (p.Met933=) c.2228A= c.253+791A= n.2071A= | |
| 17 | g.44375043G>A | CA500263711 | ITGA2B | c.2796C>T (p.Ala932=) c.2227C>T c.253+790C>T n.2070C>T | gnomAD v4 |
| 17 | g.44375043G>C | CA500263713 | ITGA2B | c.2796C>G (p.Ala932=) c.2227C>G c.253+790C>G n.2070C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44375043G= | CA2261365550 | ITGA2B | c.2796C= (p.Ala932=) c.2227C= c.253+790C= n.2070C= | |
| 17 | g.44375043G>T | CA500263712 | ITGA2B | c.2796C>A (p.Ala932=) c.2227C>A c.253+790C>A n.2070C>A | gnomAD v4 |
| 17 | g.44375044G>A | CA399791862 | ITGA2B | c.2795C>T (p.Ala932Val) c.2226C>T c.253+789C>T n.2069C>T | |
| 17 | g.44375044G>C | CA399791865 | ITGA2B | c.2795C>G (p.Ala932Gly) c.2226C>G c.253+789C>G n.2069C>G | |
| 17 | g.44375044G= | CA2261365551 | ITGA2B | c.2795C= (p.Ala932=) c.2226C= c.253+789C= n.2069C= | |
| 17 | g.44375044G>T | CA399791867 | ITGA2B | c.2795C>A (p.Ala932Asp) c.2226C>A c.253+789C>A n.2069C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44375045C>A | CA399791868 | ITGA2B | c.2794G>T (p.Ala932Ser) c.2225G>T c.253+788G>T n.2068G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44375045C= | CA2261365552 | ITGA2B | c.2794G= (p.Ala932=) c.2225G= c.253+788G= n.2068G= | |
| 17 | g.44375045C>G | CA399791869 | ITGA2B | c.2794G>C (p.Ala932Pro) c.2225G>C c.253+788G>C n.2068G>C | |
| 17 | g.44375045C>T | CA290946489 | ITGA2B | c.2794G>A (p.Ala932Thr) c.2225G>A c.253+788G>A n.2068G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44375047dup | CA2638215120 | ITGA2B | c.2794dup (p.Ala932GlyfsTer?) c.2225dup c.253+788dup n.2068dup | gnomAD v4 |
| 17 | g.44375046C>A | CA500263723 | ITGA2B | c.2793G>T (p.Arg931=) c.2224G>T c.253+787G>T n.2067G>T | gnomAD v4 |
| 17 | g.44375046C= | CA2261365553 | ITGA2B | c.2793G= (p.Arg931=) c.2224G= c.253+787G= n.2067G= | |
| 17 | g.44375046C>G | CA500263726 | ITGA2B | c.2793G>C (p.Arg931=) c.2224G>C c.253+787G>C n.2067G>C | gnomAD v4 |
| 17 | g.44375046C>T | CA500263727 | ITGA2B | c.2793G>A (p.Arg931=) c.2224G>A c.253+787G>A n.2067G>A | dbSNP gnomAD v2 |
| 17 | g.44375047C>A | CA399791871 | ITGA2B | c.2792G>T (p.Arg931Leu) c.2223G>T c.253+786G>T n.2066G>T | gnomAD v4 |
| 17 | g.44375047C= | CA2261365554 | ITGA2B | c.2792G= (p.Arg931=) c.2223G= c.253+786G= n.2066G= | |
| 17 | g.44375047C>G | CA399791873 | ITGA2B | c.2792G>C (p.Arg931Pro) c.2223G>C c.253+786G>C n.2066G>C | |
| 17 | g.44375047C>T | CA399791876 | ITGA2B | c.2792G>A (p.Arg931Gln) c.2223G>A c.253+786G>A n.2066G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44375048G>A | CA290946494 | ITGA2B | c.2791C>T (p.Arg931Trp) c.2222C>T c.253+785C>T n.2065C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44375048G>C | CA399791880 | ITGA2B | c.2791C>G (p.Arg931Gly) c.2222C>G c.253+785C>G n.2065C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44375048G= | CA2261365555 | ITGA2B | c.2791C= (p.Arg931=) c.2222C= c.253+785C= n.2065C= | |
| 17 | g.44375048G>T | CA500263733 | ITGA2B | c.2791C>A (p.Arg931=) c.2222C>A c.253+785C>A n.2065C>A | gnomAD v4 |
| 17 | g.44375048_44375052delinsGCTGC | CA2261365556 | ITGA2B | c.2787_2791delinsGCAGC (p.Gly929=) c.2218_2222delinsGCAGC c.253+781_253+785delinsGCAGC n.2061_2065delinsGCAGC | |
| 17 | g.44375049C>A | CA399791885 | ITGA2B | c.2790G>T (p.Gln930His) c.2221G>T c.253+784G>T n.2064G>T | gnomAD v4 |
| 17 | g.44375049C>G | CA399791888 | ITGA2B | c.2790G>C (p.Gln930His) c.2221G>C c.253+784G>C n.2064G>C | |
| 17 | g.44375049C>T | CA500263742 | ITGA2B | c.2790G>A (p.Gln930=) c.2221G>A c.253+784G>A n.2064G>A | gnomAD v4 |
| 17 | g.44375050_44375053del | CA290946500 | ITGA2B | c.2787_2790del (p.Gln930GlyfsTer?) c.2218_2221del c.253+781_253+784del n.2061_2064del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44375050T>A | CA399791899 | ITGA2B | c.2789A>T (p.Gln930Leu) c.2220A>T c.253+783A>T n.2063A>T | |
| 17 | g.44375050T>C | CA399791896 | ITGA2B | c.2789A>G (p.Gln930Arg) c.2220A>G c.253+783A>G n.2063A>G | gnomAD v4 |
| 17 | g.44375050T>G | CA399791893 | ITGA2B | c.2789A>C (p.Gln930Pro) c.2220A>C c.253+783A>C n.2063A>C | |
| 17 | g.44375051G>A | CA399791903 | ITGA2B | c.2788C>T (p.Gln930Ter) c.2219C>T c.253+782C>T n.2062C>T | gnomAD v4 |
| 17 | g.44375051G>C | CA399791904 | ITGA2B | c.2788C>G (p.Gln930Glu) c.2219C>G c.253+782C>G n.2062C>G | dbSNP |
| 17 | g.44375051G= | CA2261365557 | ITGA2B | c.2788C= (p.Gln930=) c.2219C= c.253+782C= n.2062C= |