Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44374920_44374940dup | CA2638214960 | ITGA2B | c.2841+66_2841+86dup (n.2841+66_2841+86dup) c.2272+66_2272+86dup c.253+901_253+921dup n.2181_2201dup | gnomAD v4 |
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.44374939del | CA2638214992 | ITGA2B | c.2841+61del (n.2841+61del) c.2272+61del c.253+896del n.2176del | gnomAD v4 |
17 | g.44374939C>A | CA2638214996 | ITGA2B | c.2841+59G>T (n.2841+59G>T) c.2272+59G>T c.253+894G>T n.2174G>T | gnomAD v4 |
17 | g.44374939C= | CA2261365485 | ITGA2B | c.2841+59G= (n.2841+59G=) c.2272+59G= c.253+894G= n.2174G= | |
17 | g.44374939C>T | CA290946425 | ITGA2B | c.2841+59G>A (n.2841+59G>A) c.2272+59G>A c.253+894G>A n.2174G>A | dbSNP gnomAD v4 |
17 | g.44374940A= | CA2261365486 | ITGA2B | c.2841+58T= (n.2841+58T=) c.2272+58T= c.253+893T= n.2173T= | |
17 | g.44374940A>C | CA772285529 | ITGA2B | c.2841+58T>G (n.2841+58T>G) c.2272+58T>G c.253+893T>G n.2173T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374940A>T | CA2261365487 | ITGA2B | c.2841+58T>A (n.2841+58T>A) c.2272+58T>A c.253+893T>A n.2173T>A | dbSNP gnomAD v4 |
17 | g.44374941G>A | CA2638214997 | ITGA2B | c.2841+57C>T (n.2841+57C>T) c.2272+57C>T c.253+892C>T n.2172C>T | gnomAD v4 |
17 | g.44374941G>C | CA983995155 | ITGA2B | c.2841+57C>G (n.2841+57C>G) c.2272+57C>G c.253+892C>G n.2172C>G | gnomAD v3 gnomAD v4 |
17 | g.44374941G>T | CA2638214998 | ITGA2B | c.2841+57C>A (n.2841+57C>A) c.2272+57C>A c.253+892C>A n.2172C>A | gnomAD v4 |
17 | g.44374942A= | CA2261365488 | ITGA2B | c.2841+56T= (n.2841+56T=) c.2272+56T= c.253+891T= n.2171T= | |
17 | g.44374942A>G | CA290946429 | ITGA2B | c.2841+56T>C (n.2841+56T>C) c.2272+56T>C c.253+891T>C n.2171T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374942A>T | CA2638214999 | ITGA2B | c.2841+56T>A (n.2841+56T>A) c.2272+56T>A c.253+891T>A n.2171T>A | gnomAD v4 |
17 | g.44374943G>A | CA2638215001 | ITGA2B | c.2841+55C>T (n.2841+55C>T) c.2272+55C>T c.253+890C>T n.2170C>T | gnomAD v4 |
17 | g.44374943G>T | CA2638215000 | ITGA2B | c.2841+55C>A (n.2841+55C>A) c.2272+55C>A c.253+890C>A n.2170C>A | gnomAD v4 |
17 | g.44374944C>T | CA2576290929 | ITGA2B | c.2841+54G>A (n.2841+54G>A) c.2272+54G>A c.253+889G>A n.2169G>A | gnomAD v4 |
17 | g.44374945A>C | CA2594317904 | ITGA2B | c.2841+53T>G (n.2841+53T>G) c.2272+53T>G c.253+888T>G n.2168T>G | gnomAD v3 gnomAD v4 |
17 | g.44374947del | CA2638215002 | ITGA2B | c.2841+53del (n.2841+53del) c.2272+53del c.253+888del n.2168del | gnomAD v4 |
17 | g.44374946A>C | CA2638215003 | ITGA2B | c.2841+52T>G (n.2841+52T>G) c.2272+52T>G c.253+887T>G n.2167T>G | dbSNP gnomAD v4 |
17 | g.44374948G>A | CA2576290930 | ITGA2B | c.2841+50C>T (n.2841+50C>T) c.2272+50C>T c.253+885C>T n.2165C>T | gnomAD v4 |
17 | g.44374948G>C | CA626119802 | ITGA2B | c.2841+50C>G (n.2841+50C>G) c.2272+50C>G c.253+885C>G n.2165C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374948G= | CA2261365489 | ITGA2B | c.2841+50C= (n.2841+50C=) c.2272+50C= c.253+885C= n.2165C= | |
17 | g.44374948G>T | CA2638215004 | ITGA2B | c.2841+50C>A (n.2841+50C>A) c.2272+50C>A c.253+885C>A n.2165C>A | gnomAD v4 |
17 | g.44374949T>C | CA2261365491 | ITGA2B | c.2841+49A>G (n.2841+49A>G) c.2272+49A>G c.253+884A>G n.2164A>G | dbSNP gnomAD v4 |
17 | g.44374949T= | CA2261365490 | ITGA2B | c.2841+49A= (n.2841+49A=) c.2272+49A= c.253+884A= n.2164A= | |
17 | g.44374950G>A | CA2261365493 | ITGA2B | c.2841+48C>T (n.2841+48C>T) c.2272+48C>T c.253+883C>T n.2163C>T | dbSNP |
17 | g.44374950G>C | CA8602566 | ITGA2B | c.2841+48C>G (n.2841+48C>G) c.2272+48C>G c.253+883C>G n.2163C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374950G= | CA2261365492 | ITGA2B | c.2841+48C= (n.2841+48C=) c.2272+48C= c.253+883C= n.2163C= | |
17 | g.44374950G>T | CA2638215005 | ITGA2B | c.2841+48C>A (n.2841+48C>A) c.2272+48C>A c.253+883C>A n.2163C>A | gnomAD v4 |
17 | g.44374951G>T | CA2638215006 | ITGA2B | c.2841+47C>A (n.2841+47C>A) c.2272+47C>A c.253+882C>A n.2162C>A | 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 |