Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44374915_44374956del | CA2638214959 | ITGA2B | c.2841+45_2841+86del (n.2841+45_2841+86del) c.2272+45_2272+86del c.253+880_253+921del n.2160_2201del | gnomAD v4 |
17 | g.44374935_44374960del | CA2638214981 | ITGA2B | c.2841+46_2841+71del (n.2841+46_2841+71del) c.2272+46_2272+71del c.253+881_253+906del n.2161_2186del | gnomAD v4 |
17 | g.44374936_44374980del | CA2638214982 | ITGA2B | c.2841+27_2841+71del (n.2841+27_2841+71del) c.2272+27_2272+71del c.253+862_253+906del n.2142_2186del | gnomAD v4 |
17 | g.44374932_44374961del | CA2638214986 | ITGA2B | c.2841+37_2841+66del (n.2841+37_2841+66del) c.2272+37_2272+66del c.253+872_253+901del n.2152_2181del | gnomAD v4 |
17 | g.44374952T>C | CA2261365495 | ITGA2B | c.2841+46A>G (n.2841+46A>G) c.2272+46A>G c.253+881A>G n.2161A>G | dbSNP |
17 | g.44374952T= | CA2261365496 | ITGA2B | c.2841+46A= (n.2841+46A=) c.2272+46A= c.253+881A= n.2161A= | |
17 | g.44374952_44374971delinsTCCCCGCCCAGAAGGCCCGG | CA2261365494 | ITGA2B | c.2841+27_2841+46delinsCCGGGCCTTCTGGGCGGGGA (n.2841+27_2841+46delinsCCGGGCCTTCTGGGCGGGGA) c.2272+27_2272+46delinsCCGGGCCTTCTGGGCGGGGA c.253+862_253+881delinsCCGGGCCTTCTGGGCGGGGA n.2142_2161delinsCCGGGCCTTCTGGGCGGGGA | |
17 | g.44374952_44374953insG | CA2638215010 | ITGA2B | c.2841+45_2841+46insC (n.2841+45_2841+46insC) c.2272+45_2272+46insC c.253+880_253+881insC n.2160_2161insC | gnomAD v4 |
17 | g.44374952_44374953insAC | CA2638215013 | ITGA2B | c.2841+45_2841+46insGT (n.2841+45_2841+46insGT) c.2272+45_2272+46insGT c.253+880_253+881insGT n.2160_2161insGT | gnomAD v4 |
17 | g.44374952_44374953insGC | CA2638215011 | ITGA2B | c.2841+45_2841+46insGC (n.2841+45_2841+46insGC) c.2272+45_2272+46insGC c.253+880_253+881insGC n.2160_2161insGC | gnomAD v4 |
17 | g.44374953C>A | CA2638215009 | ITGA2B | c.2841+45G>T (n.2841+45G>T) c.2272+45G>T c.253+880G>T n.2160G>T | gnomAD v4 |
17 | g.44374953C>G | CA2638215008 | ITGA2B | c.2841+45G>C (n.2841+45G>C) c.2272+45G>C c.253+880G>C n.2160G>C | gnomAD v4 |
17 | g.44374953C>T | CA2506225277 | ITGA2B | c.2841+45G>A (n.2841+45G>A) c.2272+45G>A c.253+880G>A n.2160G>A | gnomAD v4 |
17 | g.44374956dup | CA2638215012 | ITGA2B | c.2841+45dup (n.2841+45dup) c.2272+45dup c.253+880dup n.2160dup | gnomAD v4 |
17 | g.44374955_44374956dup | CA2638215007 | ITGA2B | c.2841+44_2841+45dup (n.2841+44_2841+45dup) c.2272+44_2272+45dup c.253+879_253+880dup n.2159_2160dup | gnomAD v4 |
17 | g.44374956del | CA2576290932 | ITGA2B | c.2841+45del (n.2841+45del) c.2272+45del c.253+880del n.2160del | |
17 | g.44374953_44374960dup | CA2514754620 | ITGA2B | c.2841+38_2841+45dup (n.2841+38_2841+45dup) c.2272+38_2272+45dup c.253+873_253+880dup n.2153_2160dup | |
17 | g.44374961_44374979del | CA8602567 | ITGA2B | c.2841+27_2841+45del (n.2841+27_2841+45del) c.2272+27_2272+45del c.253+862_253+880del n.2142_2160del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374955C>A | CA2638215014 | ITGA2B | c.2841+43G>T (n.2841+43G>T) c.2272+43G>T c.253+878G>T n.2158G>T | gnomAD v4 |
17 | g.44374955C= | CA2261365497 | ITGA2B | c.2841+43G= (n.2841+43G=) c.2272+43G= c.253+878G= n.2158G= | |
17 | g.44374955C>T | CA626119812 | ITGA2B | c.2841+43G>A (n.2841+43G>A) c.2272+43G>A c.253+878G>A n.2158G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374956C>A | CA2638215015 | ITGA2B | c.2841+42G>T (n.2841+42G>T) c.2272+42G>T c.253+877G>T n.2157G>T | gnomAD v4 |
17 | g.44374956C= | CA2261365498 | ITGA2B | c.2841+42G= (n.2841+42G=) c.2272+42G= c.253+877G= n.2157G= | |
17 | g.44374956C>G | CA290946431 | ITGA2B | c.2841+42G>C (n.2841+42G>C) c.2272+42G>C c.253+877G>C n.2157G>C | dbSNP |
17 | g.44374956C>T | CA2261365499 | ITGA2B | c.2841+42G>A (n.2841+42G>A) c.2272+42G>A c.253+877G>A n.2157G>A | dbSNP gnomAD v4 |
17 | g.44374957del | CA2638215016 | ITGA2B | c.2841+41del (n.2841+41del) c.2272+41del c.253+876del n.2156del | gnomAD v4 |
17 | g.44374957G>A | CA2576290933 | ITGA2B | c.2841+41C>T (n.2841+41C>T) c.2272+41C>T c.253+876C>T n.2156C>T | gnomAD v4 |
17 | g.44374957G>C | CA772285544 | ITGA2B | c.2841+41C>G (n.2841+41C>G) c.2272+41C>G c.253+876C>G n.2156C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374957G= | CA2261365500 | ITGA2B | c.2841+41C= (n.2841+41C=) c.2272+41C= c.253+876C= n.2156C= | |
17 | g.44374957G>T | CA8602568 | ITGA2B | c.2841+41C>A (n.2841+41C>A) c.2272+41C>A c.253+876C>A n.2156C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44374961_44374974del | CA2576290934 | ITGA2B | c.2841+28_2841+41del (n.2841+28_2841+41del) c.2272+28_2272+41del c.253+863_253+876del n.2143_2156del | |
17 | g.44374958C>A | CA2638215017 | ITGA2B | c.2841+40G>T (n.2841+40G>T) c.2272+40G>T c.253+875G>T n.2155G>T | gnomAD v4 |
17 | g.44374958C= | CA2261365501 | ITGA2B | c.2841+40G= (n.2841+40G=) c.2272+40G= c.253+875G= n.2155G= | |
17 | g.44374958C>T | CA983995164 | ITGA2B | c.2841+40G>A (n.2841+40G>A) c.2272+40G>A c.253+875G>A n.2155G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374959C>A | CA2638215019 | ITGA2B | c.2841+39G>T (n.2841+39G>T) c.2272+39G>T c.253+874G>T n.2154G>T | gnomAD v4 |
17 | g.44374959C>G | CA2638215020 | ITGA2B | c.2841+39G>C (n.2841+39G>C) c.2272+39G>C c.253+874G>C n.2154G>C | gnomAD v4 |
17 | g.44374961_44374978del | CA2638215018 | ITGA2B | c.2841+22_2841+39del (n.2841+22_2841+39del) c.2272+22_2272+39del c.253+857_253+874del n.2137_2154del | gnomAD v4 |
17 | g.44374960C>A | CA2638215022 | ITGA2B | c.2841+38G>T (n.2841+38G>T) c.2272+38G>T c.253+873G>T n.2153G>T | gnomAD v4 |
17 | g.44374960C= | CA2261365502 | ITGA2B | c.2841+38G= (n.2841+38G=) c.2272+38G= c.253+873G= n.2153G= | |
17 | g.44374960C>T | CA626119818 | ITGA2B | c.2841+38G>A (n.2841+38G>A) c.2272+38G>A c.253+873G>A n.2153G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374961_44374967del | CA2638215021 | ITGA2B | c.2841+32_2841+38del (n.2841+32_2841+38del) c.2272+32_2272+38del c.253+867_253+873del n.2147_2153del | gnomAD v4 |
17 | g.44374960_44374961insCCA | CA2638215023 | ITGA2B | c.2841+37_2841+38insTGG (n.2841+37_2841+38insTGG) c.2272+37_2272+38insTGG c.253+872_253+873insTGG n.2152_2153insTGG | gnomAD v4 |
17 | g.44374961A= | CA2261365503 | ITGA2B | c.2841+37T= (n.2841+37T=) c.2272+37T= c.253+872T= n.2152T= | |
17 | g.44374961A>C | CA772285547 | ITGA2B | c.2841+37T>G (n.2841+37T>G) c.2272+37T>G c.253+872T>G n.2152T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374961A>T | CA2638215026 | ITGA2B | c.2841+37T>A (n.2841+37T>A) c.2272+37T>A c.253+872T>A n.2152T>A | gnomAD v4 |
17 | g.44374962_44374963del | CA2638215024 | ITGA2B | c.2841+36_2841+37del (n.2841+36_2841+37del) c.2272+36_2272+37del c.253+871_253+872del n.2151_2152del | gnomAD v4 |
17 | g.44374961_44374966del | CA2638215025 | ITGA2B | c.2841+32_2841+37del (n.2841+32_2841+37del) c.2272+32_2272+37del c.253+867_253+872del n.2147_2152del | gnomAD v4 |
17 | g.44374962del | CA2638215028 | ITGA2B | c.2841+36del (n.2841+36del) c.2272+36del c.253+871del n.2151del | gnomAD v4 |
17 | g.44374962G>A | CA772285549 | ITGA2B | c.2841+36C>T (n.2841+36C>T) c.2272+36C>T c.253+871C>T n.2151C>T | dbSNP gnomAD v4 |
17 | g.44374962G>C | CA2576290935 | ITGA2B | c.2841+36C>G (n.2841+36C>G) c.2272+36C>G c.253+871C>G n.2151C>G | gnomAD v3 gnomAD v4 |