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.44374932C>A | CA2576290927 | ITGA2B | c.2841+66G>T (n.2841+66G>T) c.2272+66G>T c.253+901G>T n.2181G>T | |
17 | g.44374932C>T | CA2638214987 | ITGA2B | c.2841+66G>A (n.2841+66G>A) c.2272+66G>A c.253+901G>A n.2181G>A | 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.44374933C>A | CA2638214988 | ITGA2B | c.2841+65G>T (n.2841+65G>T) c.2272+65G>T c.253+900G>T n.2180G>T | gnomAD v4 |
17 | g.44374935C>A | CA2638214989 | ITGA2B | c.2841+63G>T (n.2841+63G>T) c.2272+63G>T c.253+898G>T n.2178G>T | gnomAD v4 |
17 | g.44374935C>G | CA2638214990 | ITGA2B | c.2841+63G>C (n.2841+63G>C) c.2272+63G>C c.253+898G>C n.2178G>C | gnomAD v4 |
17 | g.44374935C>T | CA2809589785 | ITGA2B | c.2841+63G>A (n.2841+63G>A) c.2272+63G>A c.253+898G>A n.2178G>A | |
17 | g.44374936T>A | CA983995149 | ITGA2B | c.2841+62A>T (n.2841+62A>T) c.2272+62A>T c.253+897A>T n.2177A>T | gnomAD v3 gnomAD v4 |
17 | g.44374936T>C | CA626119801 | ITGA2B | c.2841+62A>G (n.2841+62A>G) c.2272+62A>G c.253+897A>G n.2177A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374936T>G | CA2638214991 | ITGA2B | c.2841+62A>C (n.2841+62A>C) c.2272+62A>C c.253+897A>C n.2177A>C | gnomAD v4 |
17 | g.44374936T= | CA2261365482 | ITGA2B | c.2841+62A= (n.2841+62A=) c.2272+62A= c.253+897A= n.2177A= | |
17 | g.44374937C>A | CA2638214993 | ITGA2B | c.2841+61G>T (n.2841+61G>T) c.2272+61G>T c.253+896G>T n.2176G>T | gnomAD v4 |
17 | g.44374937C= | CA2261365484 | ITGA2B | c.2841+61G= (n.2841+61G=) c.2272+61G= c.253+896G= n.2176G= | |
17 | g.44374937C>G | CA2638214994 | ITGA2B | c.2841+61G>C (n.2841+61G>C) c.2272+61G>C c.253+896G>C n.2176G>C | gnomAD v4 |
17 | g.44374937C>T | CA2261365483 | ITGA2B | c.2841+61G>A (n.2841+61G>A) c.2272+61G>A c.253+896G>A n.2176G>A | dbSNP 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.44374938C>A | CA2809589786 | ITGA2B | c.2841+60G>T (n.2841+60G>T) c.2272+60G>T c.253+895G>T n.2175G>T | |
17 | g.44374938C>T | CA2638214995 | ITGA2B | c.2841+60G>A (n.2841+60G>A) c.2272+60G>A c.253+895G>A n.2175G>A | 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>G | CA2838207591 | ITGA2B | c.2841+58T>C (n.2841+58T>C) c.2272+58T>C c.253+893T>C n.2173T>C | |
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.44374940_44374943del | CA2839075721 | ITGA2B | c.2841+55_2841+58del (n.2841+55_2841+58del) c.2272+55_2272+58del c.253+890_253+893del n.2170_2173del | |
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.44374948_44374949insCCTG | CA2809589787 | ITGA2B | c.2841+50_2841+51insAGGC (n.2841+50_2841+51insAGGC) c.2272+50_2272+51insAGGC c.253+885_253+886insAGGC n.2165_2166insAGGC | |
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.44374951_44374952del | CA2809589788 | ITGA2B | c.2841+46_2841+47del (n.2841+46_2841+47del) c.2272+46_2272+47del c.253+881_253+882del n.2161_2162del | |
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>G | CA2838226994 | ITGA2B | c.2841+46A>C (n.2841+46A>C) c.2272+46A>C c.253+881A>C n.2161A>C | |
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.44374952_44374953insGCC | CA2809589789 | ITGA2B | c.2841+45_2841+46insGGC (n.2841+45_2841+46insGGC) c.2272+45_2272+46insGGC c.253+880_253+881insGGC n.2160_2161insGGC | |
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.44374954C>T | CA2838226992 | ITGA2B | c.2841+44G>A (n.2841+44G>A) c.2272+44G>A c.253+879G>A n.2159G>A | |
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.44374960_44374961del | CA2840396052 | ITGA2B | c.2841+37_2841+38del (n.2841+37_2841+38del) c.2272+37_2272+38del c.253+872_253+873del n.2152_2153del | |
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.44374963_44374965del | CA2809589790 | ITGA2B | c.2841+35_2841+37del (n.2841+35_2841+37del) c.2272+35_2272+37del c.253+870_253+872del n.2150_2152del | |
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 |
17 | g.44374962G= | CA2261365504 | ITGA2B | c.2841+36C= (n.2841+36C=) c.2272+36C= c.253+871C= n.2151C= | |
17 | g.44374962G>T | CA2638215027 | ITGA2B | c.2841+36C>A (n.2841+36C>A) c.2272+36C>A c.253+871C>A n.2151C>A | gnomAD v4 |
17 | g.44374963A>C | CA2638215031 | ITGA2B | c.2841+35T>G (n.2841+35T>G) c.2272+35T>G c.253+870T>G n.2150T>G | gnomAD v4 |
17 | g.44374963A>G | CA2638215032 | ITGA2B | c.2841+35T>C (n.2841+35T>C) c.2272+35T>C c.253+870T>C n.2150T>C | gnomAD v4 |
17 | g.44374963A>T | CA2638215033 | ITGA2B | c.2841+35T>A (n.2841+35T>A) c.2272+35T>A c.253+870T>A n.2150T>A | gnomAD v4 |
17 | g.44374963_44374964del | CA2638215029 | ITGA2B | c.2841+34_2841+35del (n.2841+34_2841+35del) c.2272+34_2272+35del c.253+869_253+870del n.2149_2150del | gnomAD v4 |
17 | g.44374963_44374967del | CA2638215030 | ITGA2B | c.2841+31_2841+35del (n.2841+31_2841+35del) c.2272+31_2272+35del c.253+866_253+870del n.2146_2150del | gnomAD v4 |
17 | g.44374964A>G | CA2638215034 | ITGA2B | c.2841+34T>C (n.2841+34T>C) c.2272+34T>C c.253+869T>C n.2149T>C | gnomAD v4 |
17 | g.44374964_44374965insT | CA2638215035 | ITGA2B | c.2841+33_2841+34insA (n.2841+33_2841+34insA) c.2272+33_2272+34insA c.253+868_253+869insA n.2148_2149insA | gnomAD v4 |
17 | g.44374965G>A | CA2638215037 | ITGA2B | c.2841+33C>T (n.2841+33C>T) c.2272+33C>T c.253+868C>T n.2148C>T | gnomAD v4 |
17 | g.44374965G>C | CA2638215036 | ITGA2B | c.2841+33C>G (n.2841+33C>G) c.2272+33C>G c.253+868C>G n.2148C>G | gnomAD v4 |
17 | g.44374965G>T | CA2576290936 | ITGA2B | c.2841+33C>A (n.2841+33C>A) c.2272+33C>A c.253+868C>A n.2148C>A | gnomAD v4 |
17 | g.44374965_44374966del | CA2638215039 | ITGA2B | c.2841+32_2841+33del (n.2841+32_2841+33del) c.2272+32_2272+33del c.253+867_253+868del n.2147_2148del | gnomAD v4 |
17 | g.44374966_44374971del | CA2638215040 | ITGA2B | c.2841+28_2841+33del (n.2841+28_2841+33del) c.2272+28_2272+33del c.253+863_253+868del n.2143_2148del | gnomAD v4 |
17 | g.44374970_44374974del | CA2638215038 | ITGA2B | c.2841+29_2841+33del (n.2841+29_2841+33del) c.2272+29_2272+33del c.253+864_253+868del n.2144_2148del | gnomAD v4 |
17 | g.44374970_44374990del | CA2740093760 | ITGA2B | c.2841+13_2841+33del (n.2841+13_2841+33del) c.2272+13_2272+33del c.253+848_253+868del n.2128_2148del | ClinVar |
17 | g.44374966G>A | CA2638215041 | ITGA2B | c.2841+32C>T (n.2841+32C>T) c.2272+32C>T c.253+867C>T n.2147C>T | gnomAD v4 |
17 | g.44374966G>C | CA2638215042 | ITGA2B | c.2841+32C>G (n.2841+32C>G) c.2272+32C>G c.253+867C>G n.2147C>G | gnomAD v4 |
17 | g.44374966G>T | CA2576290937 | ITGA2B | c.2841+32C>A (n.2841+32C>A) c.2272+32C>A c.253+867C>A n.2147C>A | gnomAD v4 |
17 | g.44374966_44374967delinsGC | CA2261365505 | ITGA2B | c.2841+31_2841+32delinsGC (n.2841+31_2841+32delinsGC) c.2272+31_2272+32delinsGC c.253+866_253+867delinsGC n.2146_2147delinsGC | |
17 | g.44374966_44374982delinsGCCCGGCCCCGCCCCAC | CA2261365506 | ITGA2B | c.2841+16_2841+32delinsGTGGGGCGGGGCCGGGC (n.2841+16_2841+32delinsGTGGGGCGGGGCCGGGC) c.2272+16_2272+32delinsGTGGGGCGGGGCCGGGC c.253+851_253+867delinsGTGGGGCGGGGCCGGGC n.2131_2147delinsGTGGGGCGGGGCCGGGC | |
17 | g.44374967C>G | CA2638215043 | ITGA2B | c.2841+31G>C (n.2841+31G>C) c.2272+31G>C c.253+866G>C n.2146G>C | gnomAD v4 |
17 | g.44374967C>T | CA2840396053 | ITGA2B | c.2841+31G>A (n.2841+31G>A) c.2272+31G>A c.253+866G>A n.2146G>A | |
17 | g.44374969dup | CA2576290938 | ITGA2B | c.2841+31dup (n.2841+31dup) c.2272+31dup c.253+866dup n.2146dup | gnomAD v4 |
17 | g.44374969del | CA772285551 | ITGA2B | c.2841+31del (n.2841+31del) c.2272+31del c.253+866del n.2146del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374968_44374983del | CA2261365507 | ITGA2B | c.2841+16_2841+31del (n.2841+16_2841+31del) c.2272+16_2272+31del c.253+851_253+866del n.2131_2146del | dbSNP |
17 | g.44374968C= | CA2261365508 | ITGA2B | c.2841+30G= (n.2841+30G=) c.2272+30G= c.253+865G= n.2145G= | |
17 | g.44374968C>T | CA626119822 | ITGA2B | c.2841+30G>A (n.2841+30G>A) c.2272+30G>A c.253+865G>A n.2145G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374968_44374970del | CA2638215044 | ITGA2B | c.2841+28_2841+30del (n.2841+28_2841+30del) c.2272+28_2272+30del c.253+863_253+865del n.2143_2145del | gnomAD v4 |
17 | g.44374969C>A | CA2638215045 | ITGA2B | c.2841+29G>T (n.2841+29G>T) c.2272+29G>T c.253+864G>T n.2144G>T | gnomAD v4 |
17 | g.44374969C= | CA2261365509 | ITGA2B | c.2841+29G= (n.2841+29G=) c.2272+29G= c.253+864G= n.2144G= | |
17 | g.44374969C>T | CA626119823 | ITGA2B | c.2841+29G>A (n.2841+29G>A) c.2272+29G>A c.253+864G>A n.2144G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374969_44374970insA | CA2638215049 | ITGA2B | c.2841+28_2841+29insT (n.2841+28_2841+29insT) c.2272+28_2272+29insT c.253+863_253+864insT n.2143_2144insT | gnomAD v4 |
17 | g.44374969_44374970insAA | CA2261365510 | ITGA2B | c.2841+28_2841+29insTT (n.2841+28_2841+29insTT) c.2272+28_2272+29insTT c.253+863_253+864insTT n.2143_2144insTT | dbSNP gnomAD v4 |
17 | g.44374969_44374970insTA | CA2638215048 | ITGA2B | c.2841+28_2841+29insTA (n.2841+28_2841+29insTA) c.2272+28_2272+29insTA c.253+863_253+864insTA n.2143_2144insTA | gnomAD v4 |
17 | g.44374970G>A | CA8602569 | ITGA2B | c.2841+28C>T (n.2841+28C>T) c.2272+28C>T c.253+863C>T n.2143C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374970G>C | CA772285559 | ITGA2B | c.2841+28C>G (n.2841+28C>G) c.2272+28C>G c.253+863C>G n.2143C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374970G= | CA2261365511 | ITGA2B | c.2841+28C= (n.2841+28C=) c.2272+28C= c.253+863C= n.2143C= | |
17 | g.44374970G>T | CA2638215047 | ITGA2B | c.2841+28C>A (n.2841+28C>A) c.2272+28C>A c.253+863C>A n.2143C>A | gnomAD v4 |
17 | g.44374971dup | CA2638215046 | ITGA2B | c.2841+28dup (n.2841+28dup) c.2272+28dup c.253+863dup n.2143dup | gnomAD v4 |
17 | g.44374971G>A | CA2576290939 | ITGA2B | c.2841+27C>T (n.2841+27C>T) c.2272+27C>T c.253+862C>T n.2142C>T | gnomAD v4 |
17 | g.44374971G>C | CA2638215051 | ITGA2B | c.2841+27C>G (n.2841+27C>G) c.2272+27C>G c.253+862C>G n.2142C>G | gnomAD v4 |
17 | g.44374971G>T | CA2576290940 | ITGA2B | c.2841+27C>A (n.2841+27C>A) c.2272+27C>A c.253+862C>A n.2142C>A | gnomAD v4 |
17 | g.44374976_44374980del | CA2638215050 | ITGA2B | c.2841+23_2841+27del (n.2841+23_2841+27del) c.2272+23_2272+27del c.253+858_253+862del n.2138_2142del | gnomAD v4 |
17 | g.44374971_44374972insGCCCCCCCCCC | CA2638215055 | ITGA2B | c.2841+26_2841+27insGGGGGGGGGGC (n.2841+26_2841+27insGGGGGGGGGGC) c.2272+26_2272+27insGGGGGGGGGGC c.253+861_253+862insGGGGGGGGGGC n.2141_2142insGGGGGGGGGGC | gnomAD v4 |
17 | g.44374972C= | CA2261365512 | ITGA2B | c.2841+26G= (n.2841+26G=) c.2272+26G= c.253+861G= n.2141G= | |
17 | g.44374972C>G | CA2638215053 | ITGA2B | c.2841+26G>C (n.2841+26G>C) c.2272+26G>C c.253+861G>C n.2141G>C | gnomAD v4 |
17 | g.44374972C>T | CA626119829 | ITGA2B | c.2841+26G>A (n.2841+26G>A) c.2272+26G>A c.253+861G>A n.2141G>A | gnomAD v2 gnomAD v4 |
17 | g.44374975_44374976insCCCCC | CA2638215059 | ITGA2B | c.2841+26_2841+27insGGGGG (n.2841+26_2841+27insGGGGG) c.2272+26_2272+27insGGGGG c.253+861_253+862insGGGGG n.2141_2142insGGGGG | gnomAD v4 |
17 | g.44374975_44374976insCCCCCC | CA2638215058 | ITGA2B | c.2841+26_2841+27insGGGGGG (n.2841+26_2841+27insGGGGGG) c.2272+26_2272+27insGGGGGG c.253+861_253+862insGGGGGG n.2141_2142insGGGGGG | gnomAD v4 |
17 | g.44374975_44374976insCCCCCCCCCC | CA2638215056 | ITGA2B | c.2841+26_2841+27insGGGGGGGGGG (n.2841+26_2841+27insGGGGGGGGGG) c.2272+26_2272+27insGGGGGGGGGG c.253+861_253+862insGGGGGGGGGG n.2141_2142insGGGGGGGGGG | gnomAD v4 |
17 | g.44374975_44374976insCCCCCACCCCC | CA2638215057 | ITGA2B | c.2841+26_2841+27insGTGGGGGGGGG (n.2841+26_2841+27insGTGGGGGGGGG) c.2272+26_2272+27insGTGGGGGGGGG c.253+861_253+862insGTGGGGGGGGG n.2141_2142insGTGGGGGGGGG | gnomAD v4 |
17 | g.44374975_44374976insCCCCCCCCCCC | CA2638215061 | ITGA2B | c.2841+26_2841+27insGGGGGGGGGGG (n.2841+26_2841+27insGGGGGGGGGGG) c.2272+26_2272+27insGGGGGGGGGGG c.253+861_253+862insGGGGGGGGGGG n.2141_2142insGGGGGGGGGGG | gnomAD v4 |
17 | g.44374975dup | CA2638215060 | ITGA2B | c.2841+26dup (n.2841+26dup) c.2272+26dup c.253+861dup n.2141dup | gnomAD v4 |
17 | g.44374973_44374975dup | CA2638215052 | ITGA2B | c.2841+24_2841+26dup (n.2841+24_2841+26dup) c.2272+24_2272+26dup c.253+859_253+861dup n.2139_2141dup | gnomAD v4 |
17 | g.44374975del | CA2638215054 | ITGA2B | c.2841+26del (n.2841+26del) c.2272+26del c.253+861del n.2141del | gnomAD v4 |
17 | g.44374973C>A | CA2638215063 | ITGA2B | c.2841+25G>T (n.2841+25G>T) c.2272+25G>T c.253+860G>T n.2140G>T | gnomAD v4 |
17 | g.44374973C= | CA2261365513 | ITGA2B | c.2841+25G= (n.2841+25G=) c.2272+25G= c.253+860G= n.2140G= | |
17 | g.44374973C>T | CA290946447 | ITGA2B | c.2841+25G>A (n.2841+25G>A) c.2272+25G>A c.253+860G>A n.2140G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374976_44374990dup | CA626119831 | ITGA2B | c.2841+11_2841+25dup (n.2841+11_2841+25dup) c.2272+11_2272+25dup c.253+846_253+860dup n.2126_2140dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374976_44374990del | CA2638215062 | ITGA2B | c.2841+11_2841+25del (n.2841+11_2841+25del) c.2272+11_2272+25del c.253+846_253+860del n.2126_2140del | gnomAD v4 |
17 | g.44374974C>T | CA2638215065 | ITGA2B | c.2841+24G>A (n.2841+24G>A) c.2272+24G>A c.253+859G>A n.2139G>A | gnomAD v4 |
17 | g.44374975_44374976insCCCCCCCCACC | CA2638215064 | ITGA2B | c.2841+24_2841+25insTGGGGGGGGGG (n.2841+24_2841+25insTGGGGGGGGGG) c.2272+24_2272+25insTGGGGGGGGGG c.253+859_253+860insTGGGGGGGGGG n.2139_2140insTGGGGGGGGGG | gnomAD v4 |
17 | g.44374975_44374976insCCCCCCCCCCCGCCCCCCCCCCCCACC | CA2638215066 | ITGA2B | c.2841+24_2841+25insTGGGGGGGGGGGGCGGGGGGGGGGGGG (n.2841+24_2841+25insTGGGGGGGGGGGGCGGGGGGGGGGGGG) c.2272+24_2272+25insTGGGGGGGGGGGGCGGGGGGGGGGGGG c.253+859_253+860insTGGGGGGGGGGGGCGGGGGGGGGGGGG n.2139_2140insTGGGGGGGGGGGGCGGGGGGGGGGGGG | gnomAD v4 |
17 | g.44374975C>A | CA2638215067 | ITGA2B | c.2841+23G>T (n.2841+23G>T) c.2272+23G>T c.253+858G>T n.2138G>T | gnomAD v4 |
17 | g.44374975C>G | CA2638215068 | ITGA2B | c.2841+23G>C (n.2841+23G>C) c.2272+23G>C c.253+858G>C n.2138G>C | gnomAD v4 |
17 | g.44374975C>T | CA2638215069 | ITGA2B | c.2841+23G>A (n.2841+23G>A) c.2272+23G>A c.253+858G>A n.2138G>A | dbSNP gnomAD v4 |
17 | g.44374976del | CA2576290941 | ITGA2B | c.2841+22del (n.2841+22del) c.2272+22del c.253+857del n.2137del | gnomAD v4 |
17 | g.44374976G>A | CA626119835 | ITGA2B | c.2841+22C>T (n.2841+22C>T) c.2272+22C>T c.253+857C>T n.2137C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374976G>C | CA626119836 | ITGA2B | c.2841+22C>G (n.2841+22C>G) c.2272+22C>G c.253+857C>G n.2137C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374976G= | CA2261365514 | ITGA2B | c.2841+22C= (n.2841+22C=) c.2272+22C= c.253+857C= n.2137C= | |
17 | g.44374976G>T | CA2638215070 | ITGA2B | c.2841+22C>A (n.2841+22C>A) c.2272+22C>A c.253+857C>A n.2137C>A | gnomAD v4 |
17 | g.44374977C>A | CA2638215073 | ITGA2B | c.2841+21G>T (n.2841+21G>T) c.2272+21G>T c.253+856G>T n.2136G>T | gnomAD v4 |
17 | g.44374977C>T | CA2638215072 | ITGA2B | c.2841+21G>A (n.2841+21G>A) c.2272+21G>A c.253+856G>A n.2136G>A | gnomAD v4 |
17 | g.44374980_44374981insCCCCC | CA2638215079 | ITGA2B | c.2841+21_2841+22insGGGGG (n.2841+21_2841+22insGGGGG) c.2272+21_2272+22insGGGGG c.253+856_253+857insGGGGG n.2136_2137insGGGGG | gnomAD v4 |
17 | g.44374980_44374981insCCCCCC | CA2638215078 | ITGA2B | c.2841+21_2841+22insGGGGGG (n.2841+21_2841+22insGGGGGG) c.2272+21_2272+22insGGGGGG c.253+856_253+857insGGGGGG n.2136_2137insGGGGGG | gnomAD v4 |
17 | g.44374980_44374981insCCCCCCC | CA2638215077 | ITGA2B | c.2841+21_2841+22insGGGGGGG (n.2841+21_2841+22insGGGGGGG) c.2272+21_2272+22insGGGGGGG c.253+856_253+857insGGGGGGG n.2136_2137insGGGGGGG | gnomAD v4 |
17 | g.44374980_44374981insCCCCCCCC | CA2638215076 | ITGA2B | c.2841+21_2841+22insGGGGGGGG (n.2841+21_2841+22insGGGGGGGG) c.2272+21_2272+22insGGGGGGGG c.253+856_253+857insGGGGGGGG n.2136_2137insGGGGGGGG | gnomAD v4 |
17 | g.44374980_44374981insCCCCCCGCCCCCCCC | CA2638215071 | ITGA2B | c.2841+21_2841+22insGGGGCGGGGGGGGGG (n.2841+21_2841+22insGGGGCGGGGGGGGGG) c.2272+21_2272+22insGGGGCGGGGGGGGGG c.253+856_253+857insGGGGCGGGGGGGGGG n.2136_2137insGGGGCGGGGGGGGGG | gnomAD v4 |
17 | g.44374980dup | CA2638215084 | ITGA2B | c.2841+21dup (n.2841+21dup) c.2272+21dup c.253+856dup n.2136dup | gnomAD v4 |
17 | g.44374979_44374980dup | CA2638215083 | ITGA2B | c.2841+20_2841+21dup (n.2841+20_2841+21dup) c.2272+20_2272+21dup c.253+855_253+856dup n.2135_2136dup | gnomAD v4 |
17 | g.44374978_44374980dup | CA2638215082 | ITGA2B | c.2841+19_2841+21dup (n.2841+19_2841+21dup) c.2272+19_2272+21dup c.253+854_253+856dup n.2134_2136dup | gnomAD v4 |
17 | g.44374977_44374980dup | CA2638215081 | ITGA2B | c.2841+18_2841+21dup (n.2841+18_2841+21dup) c.2272+18_2272+21dup c.253+853_253+856dup n.2133_2136dup | gnomAD v4 |
17 | g.44374980del | CA2638215075 | ITGA2B | c.2841+21del (n.2841+21del) c.2272+21del c.253+856del n.2136del | gnomAD v4 |
17 | g.44374979_44374983dup | CA2638215080 | ITGA2B | c.2841+17_2841+21dup (n.2841+17_2841+21dup) c.2272+17_2272+21dup c.253+852_253+856dup n.2132_2136dup | gnomAD v4 |
17 | g.44374984_44374998del | CA2638215074 | ITGA2B | c.2841+7_2841+21del c.2272+7_2272+21del c.253+842_253+856del n.2122_2136del | gnomAD v4 |
17 | g.44374978C>T | CA2576290942 | ITGA2B | c.2841+20G>A (n.2841+20G>A) c.2272+20G>A c.253+855G>A n.2135G>A | gnomAD v4 |
17 | g.44374979C>A | CA2638215085 | ITGA2B | c.2841+19G>T (n.2841+19G>T) c.2272+19G>T c.253+854G>T n.2134G>T | gnomAD v4 |
17 | g.44374979C>T | CA2576290943 | ITGA2B | c.2841+19G>A (n.2841+19G>A) c.2272+19G>A c.253+854G>A n.2134G>A | gnomAD v4 |
17 | g.44374980C>A | CA2638215088 | ITGA2B | c.2841+18G>T (n.2841+18G>T) c.2272+18G>T c.253+853G>T n.2133G>T | gnomAD v4 |
17 | g.44374980C= | CA2261365515 | ITGA2B | c.2841+18G= (n.2841+18G=) c.2272+18G= c.253+853G= n.2133G= | |
17 | g.44374980C>T | CA626119839 | ITGA2B | c.2841+18G>A (n.2841+18G>A) c.2272+18G>A c.253+853G>A n.2133G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374981_44374982del | CA2638215087 | ITGA2B | c.2841+17_2841+18del (n.2841+17_2841+18del) c.2272+17_2272+18del c.253+852_253+853del n.2132_2133del | gnomAD v4 |
17 | g.44374981_44374988del | CA2638215086 | ITGA2B | c.2841+11_2841+18del (n.2841+11_2841+18del) c.2272+11_2272+18del c.253+846_253+853del n.2126_2133del | gnomAD v4 |
17 | g.44374981del | CA2638215089 | ITGA2B | c.2841+17del (n.2841+17del) c.2272+17del c.253+852del n.2132del | gnomAD v4 |
17 | g.44374981A= | CA2261365516 | ITGA2B | c.2841+17T= (n.2841+17T=) c.2272+17T= c.253+852T= n.2132T= | |
17 | g.44374981A>C | CA626119840 | ITGA2B | c.2841+17T>G (n.2841+17T>G) c.2272+17T>G c.253+852T>G n.2132T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374981_44374984del | CA2638215090 | ITGA2B | c.2841+14_2841+17del (n.2841+14_2841+17del) c.2272+14_2272+17del c.253+849_253+852del n.2129_2132del | gnomAD v4 |
17 | g.44374981_44374987del | CA2594317909 | ITGA2B | c.2841+11_2841+17del (n.2841+11_2841+17del) c.2272+11_2272+17del c.253+846_253+852del n.2126_2132del | gnomAD v3 gnomAD v4 |
17 | g.44374982C>A | CA2638215092 | ITGA2B | c.2841+16G>T (n.2841+16G>T) c.2272+16G>T c.253+851G>T n.2131G>T | gnomAD v4 |
17 | g.44374982C= | CA2261365517 | ITGA2B | c.2841+16G= (n.2841+16G=) c.2272+16G= c.253+851G= n.2131G= | |
17 | g.44374982C>T | CA626119846 | ITGA2B | c.2841+16G>A (n.2841+16G>A) c.2272+16G>A c.253+851G>A n.2131G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374983dup | CA2638215091 | ITGA2B | c.2841+16dup (n.2841+16dup) c.2272+16dup c.253+851dup n.2131dup | gnomAD v4 |
17 | g.44374983C>A | CA290946452 | ITGA2B | c.2841+15G>T (n.2841+15G>T) c.2272+15G>T c.253+850G>T n.2130G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374983C= | CA2261365518 | ITGA2B | c.2841+15G= (n.2841+15G=) c.2272+15G= c.253+850G= n.2130G= | |
17 | g.44374984A= | CA2261365519 | ITGA2B | c.2841+14T= (n.2841+14T=) c.2272+14T= c.253+849T= n.2129T= | |
17 | g.44374984A>C | CA983995174 | ITGA2B | c.2841+14T>G (n.2841+14T>G) c.2272+14T>G c.253+849T>G n.2129T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374984A>G | CA626119849 | ITGA2B | c.2841+14T>C (n.2841+14T>C) c.2272+14T>C c.253+849T>C n.2129T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374984_44374987del | CA2638215093 | ITGA2B | c.2841+11_2841+14del (n.2841+11_2841+14del) c.2272+11_2272+14del c.253+846_253+849del n.2126_2129del | gnomAD v4 |
17 | g.44374985del | CA2638215094 | ITGA2B | c.2841+13del (n.2841+13del) c.2272+13del c.253+848del n.2128del | gnomAD v4 |
17 | g.44374985C>A | CA290946454 | ITGA2B | c.2841+13G>T (n.2841+13G>T) c.2272+13G>T c.253+848G>T n.2128G>T | dbSNP gnomAD v4 |
17 | g.44374985C= | CA2261365520 | ITGA2B | c.2841+13G= (n.2841+13G=) c.2272+13G= c.253+848G= n.2128G= | |
17 | g.44374985C>T | CA8602570 | ITGA2B | c.2841+13G>A (n.2841+13G>A) c.2272+13G>A c.253+848G>A n.2128G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374985dup | CA2576290945 | ITGA2B | c.2841+13dup (n.2841+13dup) c.2272+13dup c.253+848dup n.2128dup | gnomAD v4 |
17 | g.44374986G>A | CA2638215097 | ITGA2B | c.2841+12C>T (n.2841+12C>T) c.2272+12C>T c.253+847C>T n.2127C>T | gnomAD v4 |
17 | g.44374986G>C | CA983995179 | ITGA2B | c.2841+12C>G (n.2841+12C>G) c.2272+12C>G c.253+847C>G n.2127C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374986G= | CA2261365521 | ITGA2B | c.2841+12C= (n.2841+12C=) c.2272+12C= c.253+847C= n.2127C= | |
17 | g.44374986G>T | CA2638215096 | ITGA2B | c.2841+12C>A (n.2841+12C>A) c.2272+12C>A c.253+847C>A n.2127C>A | gnomAD v4 |
17 | g.44374986_44374987del | CA2638215095 | ITGA2B | c.2841+11_2841+12del (n.2841+11_2841+12del) c.2272+11_2272+12del c.253+846_253+847del n.2126_2127del | gnomAD v4 |
17 | g.44374986_44374987insCCCCCCCCCCCCCCC | CA2638215098 | ITGA2B | c.2841+11_2841+12insGGGGGGGGGGGGGGG (n.2841+11_2841+12insGGGGGGGGGGGGGGG) c.2272+11_2272+12insGGGGGGGGGGGGGGG c.253+846_253+847insGGGGGGGGGGGGGGG n.2126_2127insGGGGGGGGGGGGGGG | gnomAD v4 |
17 | g.44374987G>A | CA2638215101 | ITGA2B | c.2841+11C>T (n.2841+11C>T) c.2272+11C>T c.253+846C>T n.2126C>T | gnomAD v4 |
17 | g.44374987G>C | CA2638215100 | ITGA2B | c.2841+11C>G (n.2841+11C>G) c.2272+11C>G c.253+846C>G n.2126C>G | gnomAD v4 |
17 | g.44374987G= | CA2261365522 | ITGA2B | c.2841+11C= (n.2841+11C=) c.2272+11C= c.253+846C= n.2126C= | |
17 | g.44374987G>T | CA2638215099 | ITGA2B | c.2841+11C>A (n.2841+11C>A) c.2272+11C>A c.253+846C>A n.2126C>A | gnomAD v4 |
17 | g.44374988C= | CA2261365523 | ITGA2B | c.2841+10G= (n.2841+10G=) c.2272+10G= c.253+845G= n.2125G= | |
17 | g.44374988C>G | CA626119859 | ITGA2B | c.2841+10G>C (n.2841+10G>C) c.2272+10G>C c.253+845G>C n.2125G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374988C>T | CA8602571 | ITGA2B | c.2841+10G>A (n.2841+10G>A) c.2272+10G>A c.253+845G>A n.2125G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44374988_44374990dup | CA2638215102 | ITGA2B | c.2841+8_2841+10dup (n.2841+8_2841+10dup) c.2272+8_2272+10dup c.253+843_253+845dup n.2123_2125dup | gnomAD v4 |
17 | g.44374990del | CA2638215103 | ITGA2B | c.2841+10del (n.2841+10del) c.2272+10del c.253+845del n.2125del | gnomAD v4 |
17 | g.44374994_44374998dup | CA626119855 | ITGA2B | c.2841+6_2841+10dup c.2272+6_2272+10dup c.253+841_253+845dup n.2121_2125dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374994_44374998del | CA2638215104 | ITGA2B | c.2841+6_2841+10del c.2272+6_2272+10del c.253+841_253+845del n.2121_2125del | gnomAD v4 |
17 | g.44374989C>A | CA2638215105 | ITGA2B | c.2841+9G>T (n.2841+9G>T) c.2272+9G>T c.253+844G>T n.2124G>T | gnomAD v4 |
17 | g.44374989C= | CA2261365524 | ITGA2B | c.2841+9G= (n.2841+9G=) c.2272+9G= c.253+844G= n.2124G= | |
17 | g.44374989C>G | CA626119863 | ITGA2B | c.2841+9G>C (n.2841+9G>C) c.2272+9G>C c.253+844G>C n.2124G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374989C>T | CA2638215106 | ITGA2B | c.2841+9G>A (n.2841+9G>A) c.2272+9G>A c.253+844G>A n.2124G>A | gnomAD v4 |
17 | g.44374990C>A | CA2638215107 | ITGA2B | c.2841+8G>T (n.2841+8G>T) c.2272+8G>T c.253+843G>T n.2123G>T | gnomAD v4 |
17 | g.44374990C= | CA2261365525 | ITGA2B | c.2841+8G= (n.2841+8G=) c.2272+8G= c.253+843G= n.2123G= | |
17 | g.44374990C>T | CA2261365526 | ITGA2B | c.2841+8G>A (n.2841+8G>A) c.2272+8G>A c.253+843G>A n.2123G>A | dbSNP gnomAD v4 |
17 | g.44374991del | CA2638215108 | ITGA2B | c.2841+7del (n.2841+7del) c.2272+7del c.253+842del n.2122del | gnomAD v4 |
17 | g.44374991A= | CA2261365527 | ITGA2B | c.2841+7T= (n.2841+7T=) c.2272+7T= c.253+842T= n.2122T= | |
17 | g.44374991A>C | CA626119865 | ITGA2B | c.2841+7T>G (n.2841+7T>G) c.2272+7T>G c.253+842T>G n.2122T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374991A>G | CA2261365528 | ITGA2B | c.2841+7T>C (n.2841+7T>C) c.2272+7T>C c.253+842T>C n.2122T>C | dbSNP gnomAD v4 |
17 | g.44374991A>T | CA2638215109 | ITGA2B | c.2841+7T>A (n.2841+7T>A) c.2272+7T>A c.253+842T>A n.2122T>A | gnomAD v4 |
17 | g.44374992C>A | CA2638215111 | ITGA2B | c.2841+6G>T (n.2841+6G>T) c.2272+6G>T c.253+841G>T n.2121G>T | gnomAD v4 |
17 | g.44374992C>T | CA2638215112 | ITGA2B | c.2841+6G>A (n.2841+6G>A) c.2272+6G>A c.253+841G>A n.2121G>A | gnomAD v4 |
17 | g.44374995del | CA2638215110 | ITGA2B | c.2841+6del (n.2841+6del) c.2272+6del c.253+841del n.2121del | gnomAD v4 |
17 | g.44374993C>A | CA2638215113 | ITGA2B | c.2841+5G>T (n.2841+5G>T) c.2272+5G>T c.253+840G>T n.2120G>T | gnomAD v4 |
17 | g.44374993C= | CA2261365529 | ITGA2B | c.2841+5G= (n.2841+5G=) c.2272+5G= c.253+840G= n.2120G= | |
17 | g.44374993C>T | CA626119867 | ITGA2B | c.2841+5G>A (n.2841+5G>A) c.2272+5G>A c.253+840G>A n.2120G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374994C>A | CA2638215114 | ITGA2B | c.2841+4G>T (n.2841+4G>T) c.2272+4G>T c.253+839G>T n.2119G>T | gnomAD v4 |
17 | g.44374994C>T | CA2638215115 | ITGA2B | c.2841+4G>A (n.2841+4G>A) c.2272+4G>A c.253+839G>A n.2119G>A | gnomAD v4 |
17 | g.44374995C>A | CA2261365531 | ITGA2B | c.2841+3G>T (n.2841+3G>T) c.2272+3G>T c.253+838G>T n.2118G>T | dbSNP gnomAD v4 |
17 | g.44374995C= | CA2261365530 | ITGA2B | c.2841+3G= (n.2841+3G=) c.2272+3G= c.253+838G= n.2118G= | |
17 | g.44374995C>T | CA2638215116 | ITGA2B | c.2841+3G>A (n.2841+3G>A) c.2272+3G>A c.253+838G>A n.2118G>A | gnomAD v4 |
17 | g.44374996del | CA2638215117 | ITGA2B | c.2841+2del (n.2841+2del) c.2272+2del c.253+837del n.2117del | gnomAD v4 |
17 | g.44374996A= | CA2261365532 | ITGA2B | c.2841+2T= (n.2841+2T=) c.2272+2T= c.253+837T= n.2117T= | |
17 | g.44374996A>C | CA399791495 | ITGA2B | c.2841+2T>G (n.2841+2T>G) c.2272+2T>G c.253+837T>G n.2117T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374996A>G | CA399791499 | ITGA2B | c.2841+2T>C (n.2841+2T>C) c.2272+2T>C c.253+837T>C n.2117T>C | gnomAD v4 |
17 | g.44374996A>T | CA399791501 | ITGA2B | c.2841+2T>A (n.2841+2T>A) c.2272+2T>A c.253+837T>A n.2117T>A | |
17 | g.44374997C>A | CA399791504 | ITGA2B | c.2841+1G>T (n.2841+1G>T) c.2272+1G>T c.253+836G>T n.2116G>T | gnomAD v4 |
17 | g.44374997C>G | CA399791516 | ITGA2B | c.2841+1G>C (n.2841+1G>C) c.2272+1G>C c.253+836G>C n.2116G>C | |
17 | g.44374997C>T | CA399791513 | ITGA2B | c.2841+1G>A (n.2841+1G>A) c.2272+1G>A c.253+836G>A n.2116G>A | gnomAD v4 |
17 | g.44374998C>A | CA399791524 | ITGA2B | c.2841G>T (p.Gln947His) c.2272G>T c.253+835G>T n.2115G>T | gnomAD v4 |
17 | g.44374998C= | CA2261365533 | ITGA2B | c.2841G= (p.Gln947=) c.2272G= c.253+835G= n.2115G= | |
17 | g.44374998C>G | CA399791527 | ITGA2B | c.2841G>C (p.Gln947His) c.2272G>C c.253+835G>C n.2115G>C | dbSNP |
17 | g.44374998C>T | CA500263469 | ITGA2B | c.2841G>A (p.Gln947=) c.2272G>A c.253+835G>A n.2115G>A | |
17 | g.44374999T>A | CA399791528 | ITGA2B | c.2840A>T (p.Gln947Leu) c.2271A>T c.253+834A>T n.2114A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374999T>C | CA399791530 | ITGA2B | c.2840A>G (p.Gln947Arg) c.2271A>G c.253+834A>G n.2114A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374999T>G | CA399791529 | ITGA2B | c.2840A>C (p.Gln947Pro) c.2271A>C c.253+834A>C n.2114A>C | dbSNP gnomAD v4 |
17 | g.44374999T= | CA2261365534 | ITGA2B | c.2840A= (p.Gln947=) c.2271A= c.253+834A= n.2114A= | |
17 | g.44375000G>A | CA399791531 | ITGA2B | c.2839C>T (p.Gln947Ter) c.2270C>T c.253+833C>T n.2113C>T | gnomAD v4 |
17 | g.44375000G>C | CA399791533 | ITGA2B | c.2839C>G (p.Gln947Glu) c.2270C>G c.253+833C>G n.2113C>G | |
17 | g.44375000G>T | CA399791532 | ITGA2B | c.2839C>A (p.Gln947Lys) c.2270C>A c.253+833C>A n.2113C>A | gnomAD v4 |
17 | g.44375001del | CA2638215118 | ITGA2B | c.2839del (p.Gln947ArgfsTer?) c.2270del c.253+833del n.2113del | gnomAD v4 |
17 | g.44375001G>A | CA500263482 | ITGA2B | c.2838C>T (p.Tyr946=) c.2269C>T c.253+832C>T n.2112C>T | gnomAD v4 |
17 | g.44375001G>C | CA399791534 | ITGA2B | c.2838C>G (p.Tyr946Ter) c.2269C>G c.253+832C>G n.2112C>G | |
17 | g.44375001G>T | CA399791536 | ITGA2B | c.2838C>A (p.Tyr946Ter) c.2269C>A c.253+832C>A n.2112C>A | gnomAD v4 |
17 | g.44375002T>A | CA399791538 | ITGA2B | c.2837A>T (p.Tyr946Phe) c.2268A>T c.253+831A>T n.2111A>T | |
17 | g.44375002T>C | CA399791541 | ITGA2B | c.2837A>G (p.Tyr946Cys) c.2268A>G c.253+831A>G n.2111A>G | |
17 | g.44375002T>G | CA399791546 | ITGA2B | c.2837A>C (p.Tyr946Ser) c.2268A>C c.253+831A>C n.2111A>C | gnomAD v4 |
17 | g.44375003A>C | CA399791548 | ITGA2B | c.2836T>G (p.Tyr946Asp) c.2267T>G c.253+830T>G n.2110T>G | |
17 | g.44375003A>G | CA399791552 | ITGA2B | c.2836T>C (p.Tyr946His) c.2267T>C c.253+830T>C n.2110T>C | |
17 | g.44375003A>T | CA399791555 | ITGA2B | c.2836T>A (p.Tyr946Asn) c.2267T>A c.253+830T>A n.2110T>A | gnomAD v4 |
17 | g.44375004G>A | CA500263498 | ITGA2B | c.2835C>T (p.Leu945=) c.2266C>T c.253+829C>T n.2109C>T | COSMIC |
17 | g.44375004G>C | CA500263506 | ITGA2B | c.2835C>G (p.Leu945=) c.2266C>G c.253+829C>G n.2109C>G | |
17 | g.44375004G>T | CA500263508 | ITGA2B | c.2835C>A (p.Leu945=) c.2266C>A c.253+829C>A n.2109C>A | gnomAD v4 |
17 | g.44375005A>C | CA399791559 | ITGA2B | c.2834T>G (p.Leu945Arg) c.2265T>G c.253+828T>G n.2108T>G | |
17 | g.44375005A>G | CA399791561 | ITGA2B | c.2834T>C (p.Leu945Pro) c.2265T>C c.253+828T>C n.2108T>C | |
17 | g.44375005A>T | CA399791564 | ITGA2B | c.2834T>A (p.Leu945His) c.2265T>A c.253+828T>A n.2108T>A | gnomAD v4 |
17 | g.44375006G>A | CA399791567 | ITGA2B | c.2833C>T (p.Leu945Phe) c.2264C>T c.253+827C>T n.2107C>T | |
17 | g.44375006G>C | CA399791572 | ITGA2B | c.2833C>G (p.Leu945Val) c.2264C>G c.253+827C>G n.2107C>G | |
17 | g.44375006G>T | CA399791577 | ITGA2B | c.2833C>A (p.Leu945Ile) c.2264C>A c.253+827C>A n.2107C>A | gnomAD v4 |
17 | g.44375007G>A | CA500263523 | ITGA2B | c.2832C>T (p.Ser944=) c.2263C>T c.253+826C>T n.2106C>T | gnomAD v4 |
17 | g.44375007G>C | CA399791583 | ITGA2B | c.2832C>G (p.Ser944Arg) c.2263C>G c.253+826C>G n.2106C>G | |
17 | g.44375007G= | CA2261365535 | ITGA2B | c.2832C= (p.Ser944=) c.2263C= c.253+826C= n.2106C= | |
17 | g.44375007G>T | CA399791580 | ITGA2B | c.2832C>A (p.Ser944Arg) c.2263C>A c.253+826C>A n.2106C>A | dbSNP gnomAD v4 |
17 | g.44375008C>A | CA399791587 | ITGA2B | c.2831G>T (p.Ser944Ile) c.2262G>T c.253+825G>T n.2105G>T | |
17 | g.44375008C>G | CA399791591 | ITGA2B | c.2831G>C (p.Ser944Thr) c.2262G>C c.253+825G>C n.2105G>C | |
17 | g.44375008C>T | CA399791594 | ITGA2B | c.2831G>A (p.Ser944Asn) c.2262G>A c.253+825G>A n.2105G>A | gnomAD v4 |
17 | g.44375009T>A | CA399791597 | ITGA2B | c.2830A>T (p.Ser944Cys) c.2261A>T c.253+824A>T n.2104A>T | |
17 | g.44375009T>C | CA399791607 | ITGA2B | c.2830A>G (p.Ser944Gly) c.2261A>G c.253+824A>G n.2104A>G | gnomAD v4 |
17 | g.44375009T>G | CA399791608 | ITGA2B | c.2830A>C (p.Ser944Arg) c.2261A>C c.253+824A>C n.2104A>C | gnomAD v4 |
17 | g.44375010G>A | CA500263536 | ITGA2B | c.2829C>T (p.Pro943=) c.2260C>T c.253+823C>T n.2103C>T | gnomAD v4 |
17 | g.44375010G>C | CA500263539 | ITGA2B | c.2829C>G (p.Pro943=) c.2260C>G c.253+823C>G n.2103C>G | |
17 | g.44375010G>T | CA500263540 | ITGA2B | c.2829C>A (p.Pro943=) c.2260C>A c.253+823C>A n.2103C>A | gnomAD v4 |
17 | g.44375011G>A | CA399791611 | ITGA2B | c.2828C>T (p.Pro943Leu) c.2259C>T c.253+822C>T n.2102C>T | gnomAD v4 |
17 | g.44375011G>C | CA399791615 | ITGA2B | c.2828C>G (p.Pro943Arg) c.2259C>G c.253+822C>G n.2102C>G | |
17 | g.44375011G>T | CA399791618 | ITGA2B | c.2828C>A (p.Pro943His) c.2259C>A c.253+822C>A n.2102C>A | gnomAD v4 |
17 | g.44375012G>A | CA399791621 | ITGA2B | c.2827C>T (p.Pro943Ser) c.2258C>T c.253+821C>T n.2101C>T | gnomAD v4 |
17 | g.44375012G>C | CA399791625 | ITGA2B | c.2827C>G (p.Pro943Ala) c.2258C>G c.253+821C>G n.2101C>G | gnomAD v4 |
17 | g.44375012G>T | CA399791627 | ITGA2B | c.2827C>A (p.Pro943Thr) c.2258C>A c.253+821C>A n.2101C>A | gnomAD v4 |
17 | g.44375013C>A | CA500263550 | ITGA2B | c.2826G>T (p.Leu942=) c.2257G>T c.253+820G>T n.2100G>T | gnomAD v4 |
17 | g.44375013C= | CA2261365536 | ITGA2B | c.2826G= (p.Leu942=) c.2257G= c.253+820G= n.2100G= | |
17 | g.44375013C>G | CA500263552 | ITGA2B | c.2826G>C (p.Leu942=) c.2257G>C c.253+820G>C n.2100G>C | gnomAD v4 |
17 | g.44375013C>T | CA500263555 | ITGA2B | c.2826G>A (p.Leu942=) c.2257G>A c.253+820G>A n.2100G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375014A>C | CA399791638 | ITGA2B | c.2825T>G (p.Leu942Arg) c.2256T>G c.253+819T>G n.2099T>G | gnomAD v4 |
17 | g.44375014A>G | CA399791635 | ITGA2B | c.2825T>C (p.Leu942Pro) c.2256T>C c.253+819T>C n.2099T>C | gnomAD v4 |
17 | g.44375014A>T | CA399791634 | ITGA2B | c.2825T>A (p.Leu942Gln) c.2256T>A c.253+819T>A n.2099T>A | |
17 | g.44375015G>A | CA500263575 | ITGA2B | c.2824C>T (p.Leu942=) c.2255C>T c.253+818C>T n.2098C>T | gnomAD v4 |
17 | g.44375015G>C | CA399791641 | ITGA2B | c.2824C>G (p.Leu942Val) c.2255C>G c.253+818C>G n.2098C>G | |
17 | g.44375015G>T | CA399791644 | ITGA2B | c.2824C>A (p.Leu942Met) c.2255C>A c.253+818C>A n.2098C>A | gnomAD v4 |
17 | g.44375016C>A | CA399791651 | ITGA2B | c.2823G>T (p.Trp941Cys) c.2254G>T c.253+817G>T n.2097G>T | |
17 | g.44375016C>G | CA399791653 | ITGA2B | c.2823G>C (p.Trp941Cys) c.2254G>C c.253+817G>C n.2097G>C | |
17 | g.44375016C>T | CA399791655 | ITGA2B | c.2823G>A (p.Trp941Ter) c.2254G>A c.253+817G>A n.2097G>A | gnomAD v4 |
17 | g.44375017C>A | CA399791656 | ITGA2B | c.2822G>T (p.Trp941Leu) c.2253G>T c.253+816G>T n.2096G>T | gnomAD v4 COSMIC |
17 | g.44375017C>G | CA399791659 | ITGA2B | c.2822G>C (p.Trp941Ser) c.2253G>C c.253+816G>C n.2096G>C | |
17 | g.44375017C>T | CA399791662 | ITGA2B | c.2822G>A (p.Trp941Ter) c.2253G>A c.253+816G>A n.2096G>A | gnomAD v4 |
17 | g.44375018A>C | CA399791666 | ITGA2B | c.2821T>G (p.Trp941Gly) c.2252T>G c.253+815T>G n.2095T>G | |
17 | g.44375018A>G | CA399791669 | ITGA2B | c.2821T>C (p.Trp941Arg) c.2252T>C c.253+815T>C n.2095T>C | gnomAD v4 |
17 | g.44375018A>T | CA399791671 | ITGA2B | c.2821T>A (p.Trp941Arg) c.2252T>A c.253+815T>A n.2095T>A | |
17 | g.44375019C>A | CA500263596 | ITGA2B | c.2820G>T (p.Leu940=) c.2251G>T c.253+814G>T n.2094G>T | |
17 | g.44375019C>G | CA500263597 | ITGA2B | c.2820G>C (p.Leu940=) c.2251G>C c.253+814G>C n.2094G>C | |
17 | g.44375019C>T | CA500263600 | ITGA2B | c.2820G>A (p.Leu940=) c.2251G>A c.253+814G>A n.2094G>A | gnomAD v4 |
17 | g.44375020A= | CA2261365537 | ITGA2B | c.2819T= (p.Leu940=) c.2250T= c.253+813T= n.2093T= | |
17 | g.44375020A>C | CA399791682 | ITGA2B | c.2819T>G (p.Leu940Arg) c.2250T>G c.253+813T>G n.2093T>G | ClinVar gnomAD v4 |
17 | g.44375020A>G | CA399791679 | ITGA2B | c.2819T>C (p.Leu940Pro) c.2250T>C c.253+813T>C n.2093T>C | gnomAD v4 |
17 | g.44375020A>T | CA399791674 | ITGA2B | c.2819T>A (p.Leu940Gln) c.2250T>A c.253+813T>A n.2093T>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44375021G>A | CA500263609 | ITGA2B | c.2818C>T (p.Leu940=) c.2249C>T c.253+812C>T n.2092C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375021G>C | CA399791684 | ITGA2B | c.2818C>G (p.Leu940Val) c.2249C>G c.253+812C>G n.2092C>G | |
17 | g.44375021G= | CA2261365538 | ITGA2B | c.2818C= (p.Leu940=) c.2249C= c.253+812C= n.2092C= | |
17 | g.44375021G>T | CA399791685 | ITGA2B | c.2818C>A (p.Leu940Met) c.2249C>A c.253+812C>A n.2092C>A | gnomAD v4 |
17 | g.44375022G>A | CA500263613 | ITGA2B | c.2817C>T (p.Phe939=) c.2248C>T c.253+811C>T n.2091C>T | ClinVar gnomAD v4 |
17 | g.44375022G>C | CA399791689 | ITGA2B | c.2817C>G (p.Phe939Leu) c.2248C>G c.253+811C>G n.2091C>G | |
17 | g.44375022G= | CA2261365539 | ITGA2B | c.2817C= (p.Phe939=) c.2248C= c.253+811C= n.2091C= | |
17 | g.44375022G>T | CA399791693 | ITGA2B | c.2817C>A (p.Phe939Leu) c.2248C>A c.253+811C>A n.2091C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375023A>C | CA399791696 | ITGA2B | c.2816T>G (p.Phe939Cys) c.2247T>G c.253+810T>G n.2090T>G | |
17 | g.44375023A>G | CA399791709 | ITGA2B | c.2816T>C (p.Phe939Ser) c.2247T>C c.253+810T>C n.2090T>C | |
17 | g.44375023A>T | CA399791712 | ITGA2B | c.2816T>A (p.Phe939Tyr) c.2247T>A c.253+810T>A n.2090T>A | |
17 | g.44375024A>C | CA399791716 | ITGA2B | c.2815T>G (p.Phe939Val) c.2246T>G c.253+809T>G n.2089T>G | |
17 | g.44375024A>G | CA399791720 | ITGA2B | c.2815T>C (p.Phe939Leu) c.2246T>C c.253+809T>C n.2089T>C | gnomAD v4 |
17 | g.44375024A>T | CA399791722 | ITGA2B | c.2815T>A (p.Phe939Ile) c.2246T>A c.253+809T>A n.2089T>A | |
17 | g.44375025G>A | CA290946477 | ITGA2B | c.2814C>T (p.Ala938=) c.2245C>T c.253+808C>T n.2088C>T | dbSNP gnomAD v4 |
17 | g.44375025G>C | CA500263628 | ITGA2B | c.2814C>G (p.Ala938=) c.2245C>G c.253+808C>G n.2088C>G | |
17 | g.44375025G= | CA2261365540 | ITGA2B | c.2814C= (p.Ala938=) c.2245C= c.253+808C= n.2088C= | |
17 | g.44375025G>T | CA500263629 | ITGA2B | c.2814C>A (p.Ala938=) c.2245C>A c.253+808C>A n.2088C>A | gnomAD v4 |
17 | g.44375026G>A | CA399791727 | ITGA2B | c.2813C>T (p.Ala938Val) c.2244C>T c.253+807C>T n.2087C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375026G>C | CA399791730 | ITGA2B | c.2813C>G (p.Ala938Gly) c.2244C>G c.253+807C>G n.2087C>G | dbSNP |
17 | g.44375026G= | CA2261365541 | ITGA2B | c.2813C= (p.Ala938=) c.2244C= c.253+807C= n.2087C= | |
17 | g.44375026G>T | CA399791734 | ITGA2B | c.2813C>A (p.Ala938Asp) c.2244C>A c.253+807C>A n.2087C>A | gnomAD v4 |
17 | g.44375027C>A | CA399791743 | ITGA2B | c.2812G>T (p.Ala938Ser) c.2243G>T c.253+806G>T n.2086G>T | gnomAD v4 |
17 | g.44375027C>G | CA399791740 | ITGA2B | c.2812G>C (p.Ala938Pro) c.2243G>C c.253+806G>C n.2086G>C | |
17 | g.44375027C>T | CA399791738 | ITGA2B | c.2812G>A (p.Ala938Thr) c.2243G>A c.253+806G>A n.2086G>A | gnomAD v4 |
17 | g.44375028C>A | CA500263639 | ITGA2B | c.2811G>T (p.Leu937=) c.2242G>T c.253+805G>T n.2085G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44375028C= | CA2261365542 | ITGA2B | c.2811G= (p.Leu937=) c.2242G= c.253+805G= n.2085G= | |
17 | g.44375028C>G | CA500263642 | ITGA2B | c.2811G>C (p.Leu937=) c.2242G>C c.253+805G>C n.2085G>C | |
17 | g.44375028C>T | CA500263644 | ITGA2B | c.2811G>A (p.Leu937=) c.2242G>A c.253+805G>A n.2085G>A | gnomAD v4 |
17 | g.44375029A>C | CA399791749 | ITGA2B | c.2810T>G (p.Leu937Arg) c.2241T>G c.253+804T>G n.2084T>G | |
17 | g.44375029A>G | CA399791747 | ITGA2B | c.2810T>C (p.Leu937Pro) c.2241T>C c.253+804T>C n.2084T>C | gnomAD v4 |
17 | g.44375029A>T | CA399791753 | ITGA2B | c.2810T>A (p.Leu937Gln) c.2241T>A c.253+804T>A n.2084T>A | gnomAD v4 |
17 | g.44375030G>A | CA500263650 | ITGA2B | c.2809C>T (p.Leu937=) c.2240C>T c.253+803C>T n.2083C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375030G>C | CA399791758 | ITGA2B | c.2809C>G (p.Leu937Val) c.2240C>G c.253+803C>G n.2083C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375030G= | CA2261365543 | ITGA2B | c.2809C= (p.Leu937=) c.2240C= c.253+803C= n.2083C= | |
17 | g.44375030G>T | CA399791760 | ITGA2B | c.2809C>A (p.Leu937Met) c.2240C>A c.253+803C>A n.2083C>A | gnomAD v4 |
17 | g.44375031C>A | CA500263652 | ITGA2B | c.2808G>T (p.Val936=) c.2239G>T c.253+802G>T n.2082G>T | gnomAD v4 |
17 | g.44375031C= | CA2261365544 | ITGA2B | c.2808G= (p.Val936=) c.2239G= c.253+802G= n.2082G= | |
17 | g.44375031C>G | CA500263655 | ITGA2B | c.2808G>C (p.Val936=) c.2239G>C c.253+802G>C n.2082G>C | |
17 | g.44375031C>T | CA500263656 | ITGA2B | c.2808G>A (p.Val936=) c.2239G>A c.253+802G>A n.2082G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375032del | CA2638215119 | ITGA2B | c.2807del (p.Val936GlyfsTer?) c.2238del c.253+801del n.2081del | gnomAD v4 |
17 | g.44375032A>C | CA399791764 | ITGA2B | c.2807T>G (p.Val936Gly) c.2238T>G c.253+801T>G n.2081T>G | |
17 | g.44375032A>G | CA399791767 | ITGA2B | c.2807T>C (p.Val936Ala) c.2238T>C c.253+801T>C n.2081T>C | gnomAD v4 |
17 | g.44375032A>T | CA399791769 | ITGA2B | c.2807T>A (p.Val936Glu) c.2238T>A c.253+801T>A n.2081T>A |