Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44374920_44374940dupCA2638214960ITGA2Bc.2841+66_2841+86dup (n.2841+66_2841+86dup)
c.2272+66_2272+86dup
c.253+901_253+921dup
n.2181_2201dup
 gnomAD v4
17g.44374915_44374956delCA2638214959ITGA2Bc.2841+45_2841+86del (n.2841+45_2841+86del)
c.2272+45_2272+86del
c.253+880_253+921del
n.2160_2201del
 gnomAD v4
17g.44374935_44374960delCA2638214981ITGA2Bc.2841+46_2841+71del (n.2841+46_2841+71del)
c.2272+46_2272+71del
c.253+881_253+906del
n.2161_2186del
 gnomAD v4
17g.44374936_44374980delCA2638214982ITGA2Bc.2841+27_2841+71del (n.2841+27_2841+71del)
c.2272+27_2272+71del
c.253+862_253+906del
n.2142_2186del
 gnomAD v4
17g.44374929C>ACA2638214984ITGA2Bc.2841+69G>T (n.2841+69G>T)
c.2272+69G>T
c.253+904G>T
n.2184G>T
 gnomAD v4
17g.44374930C>ACA2638214985ITGA2Bc.2841+68G>T (n.2841+68G>T)
c.2272+68G>T
c.253+903G>T
n.2183G>T
 gnomAD v4
17g.44374930C>TCA2576290924ITGA2Bc.2841+68G>A (n.2841+68G>A)
c.2272+68G>A
c.253+903G>A
n.2183G>A
 gnomAD v4
17g.44374931G>ACA2576290925ITGA2Bc.2841+67C>T (n.2841+67C>T)
c.2272+67C>T
c.253+902C>T
n.2182C>T
 gnomAD v4
17g.44374931G>CCA626119800ITGA2Bc.2841+67C>G (n.2841+67C>G)
c.2272+67C>G
c.253+902C>G
n.2182C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44374931G=CA2261365481ITGA2Bc.2841+67C= (n.2841+67C=)
c.2272+67C=
c.253+902C=
n.2182C=
17g.44374931G>TCA2576290926ITGA2Bc.2841+67C>A (n.2841+67C>A)
c.2272+67C>A
c.253+902C>A
n.2182C>A
 gnomAD v4
17g.44374932C>ACA2576290927ITGA2Bc.2841+66G>T (n.2841+66G>T)
c.2272+66G>T
c.253+901G>T
n.2181G>T
17g.44374932C>TCA2638214987ITGA2Bc.2841+66G>A (n.2841+66G>A)
c.2272+66G>A
c.253+901G>A
n.2181G>A
 gnomAD v4
17g.44374932_44374961delCA2638214986ITGA2Bc.2841+37_2841+66del (n.2841+37_2841+66del)
c.2272+37_2272+66del
c.253+872_253+901del
n.2152_2181del
 gnomAD v4
17g.44374933C>ACA2638214988ITGA2Bc.2841+65G>T (n.2841+65G>T)
c.2272+65G>T
c.253+900G>T
n.2180G>T
 gnomAD v4
17g.44374935C>ACA2638214989ITGA2Bc.2841+63G>T (n.2841+63G>T)
c.2272+63G>T
c.253+898G>T
n.2178G>T
 gnomAD v4
17g.44374935C>GCA2638214990ITGA2Bc.2841+63G>C (n.2841+63G>C)
c.2272+63G>C
c.253+898G>C
n.2178G>C
 gnomAD v4
17g.44374935C>TCA2809589785ITGA2Bc.2841+63G>A (n.2841+63G>A)
c.2272+63G>A
c.253+898G>A
n.2178G>A
17g.44374936T>ACA983995149ITGA2Bc.2841+62A>T (n.2841+62A>T)
c.2272+62A>T
c.253+897A>T
n.2177A>T
 gnomAD v3 gnomAD v4
17g.44374936T>CCA626119801ITGA2Bc.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
17g.44374936T>GCA2638214991ITGA2Bc.2841+62A>C (n.2841+62A>C)
c.2272+62A>C
c.253+897A>C
n.2177A>C
 gnomAD v4
17g.44374936T=CA2261365482ITGA2Bc.2841+62A= (n.2841+62A=)
c.2272+62A=
c.253+897A=
n.2177A=
17g.44374937C>ACA2638214993ITGA2Bc.2841+61G>T (n.2841+61G>T)
c.2272+61G>T
c.253+896G>T
n.2176G>T
 gnomAD v4
17g.44374937C=CA2261365484ITGA2Bc.2841+61G= (n.2841+61G=)
c.2272+61G=
c.253+896G=
n.2176G=
17g.44374937C>GCA2638214994ITGA2Bc.2841+61G>C (n.2841+61G>C)
c.2272+61G>C
c.253+896G>C
n.2176G>C
 gnomAD v4
17g.44374937C>TCA2261365483ITGA2Bc.2841+61G>A (n.2841+61G>A)
c.2272+61G>A
c.253+896G>A
n.2176G>A
 dbSNP gnomAD v4
17g.44374939delCA2638214992ITGA2Bc.2841+61del (n.2841+61del)
c.2272+61del
c.253+896del
n.2176del
 gnomAD v4
17g.44374938C>ACA2809589786ITGA2Bc.2841+60G>T (n.2841+60G>T)
c.2272+60G>T
c.253+895G>T
n.2175G>T
17g.44374938C>TCA2638214995ITGA2Bc.2841+60G>A (n.2841+60G>A)
c.2272+60G>A
c.253+895G>A
n.2175G>A
 gnomAD v4
17g.44374939C>ACA2638214996ITGA2Bc.2841+59G>T (n.2841+59G>T)
c.2272+59G>T
c.253+894G>T
n.2174G>T
 gnomAD v4
17g.44374939C=CA2261365485ITGA2Bc.2841+59G= (n.2841+59G=)
c.2272+59G=
c.253+894G=
n.2174G=
17g.44374939C>TCA290946425ITGA2Bc.2841+59G>A (n.2841+59G>A)
c.2272+59G>A
c.253+894G>A
n.2174G>A
 dbSNP gnomAD v4
17g.44374940A=CA2261365486ITGA2Bc.2841+58T= (n.2841+58T=)
c.2272+58T=
c.253+893T=
n.2173T=
17g.44374940A>CCA772285529ITGA2Bc.2841+58T>G (n.2841+58T>G)
c.2272+58T>G
c.253+893T>G
n.2173T>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374940A>TCA2261365487ITGA2Bc.2841+58T>A (n.2841+58T>A)
c.2272+58T>A
c.253+893T>A
n.2173T>A
 dbSNP gnomAD v4
17g.44374941G>ACA2638214997ITGA2Bc.2841+57C>T (n.2841+57C>T)
c.2272+57C>T
c.253+892C>T
n.2172C>T
 gnomAD v4
17g.44374941G>CCA983995155ITGA2Bc.2841+57C>G (n.2841+57C>G)
c.2272+57C>G
c.253+892C>G
n.2172C>G
 gnomAD v3 gnomAD v4
17g.44374941G>TCA2638214998ITGA2Bc.2841+57C>A (n.2841+57C>A)
c.2272+57C>A
c.253+892C>A
n.2172C>A
 gnomAD v4
17g.44374942A=CA2261365488ITGA2Bc.2841+56T= (n.2841+56T=)
c.2272+56T=
c.253+891T=
n.2171T=
17g.44374942A>GCA290946429ITGA2Bc.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
17g.44374942A>TCA2638214999ITGA2Bc.2841+56T>A (n.2841+56T>A)
c.2272+56T>A
c.253+891T>A
n.2171T>A
 gnomAD v4
17g.44374943G>ACA2638215001ITGA2Bc.2841+55C>T (n.2841+55C>T)
c.2272+55C>T
c.253+890C>T
n.2170C>T
 gnomAD v4
17g.44374943G>TCA2638215000ITGA2Bc.2841+55C>A (n.2841+55C>A)
c.2272+55C>A
c.253+890C>A
n.2170C>A
 gnomAD v4
17g.44374944C>TCA2576290929ITGA2Bc.2841+54G>A (n.2841+54G>A)
c.2272+54G>A
c.253+889G>A
n.2169G>A
 gnomAD v4
17g.44374945A>CCA2594317904ITGA2Bc.2841+53T>G (n.2841+53T>G)
c.2272+53T>G
c.253+888T>G
n.2168T>G
 gnomAD v3 gnomAD v4
17g.44374947delCA2638215002ITGA2Bc.2841+53del (n.2841+53del)
c.2272+53del
c.253+888del
n.2168del
 gnomAD v4
17g.44374946A>CCA2638215003ITGA2Bc.2841+52T>G (n.2841+52T>G)
c.2272+52T>G
c.253+887T>G
n.2167T>G
 dbSNP gnomAD v4
17g.44374948G>ACA2576290930ITGA2Bc.2841+50C>T (n.2841+50C>T)
c.2272+50C>T
c.253+885C>T
n.2165C>T
 gnomAD v4
17g.44374948G>CCA626119802ITGA2Bc.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
17g.44374948G=CA2261365489ITGA2Bc.2841+50C= (n.2841+50C=)
c.2272+50C=
c.253+885C=
n.2165C=
17g.44374948G>TCA2638215004ITGA2Bc.2841+50C>A (n.2841+50C>A)
c.2272+50C>A
c.253+885C>A
n.2165C>A
 gnomAD v4
17g.44374948_44374949insCCTGCA2809589787ITGA2Bc.2841+50_2841+51insAGGC (n.2841+50_2841+51insAGGC)
c.2272+50_2272+51insAGGC
c.253+885_253+886insAGGC
n.2165_2166insAGGC
17g.44374949T>CCA2261365491ITGA2Bc.2841+49A>G (n.2841+49A>G)
c.2272+49A>G
c.253+884A>G
n.2164A>G
 dbSNP gnomAD v4
17g.44374949T=CA2261365490ITGA2Bc.2841+49A= (n.2841+49A=)
c.2272+49A=
c.253+884A=
n.2164A=
17g.44374950G>ACA2261365493ITGA2Bc.2841+48C>T (n.2841+48C>T)
c.2272+48C>T
c.253+883C>T
n.2163C>T
 dbSNP
17g.44374950G>CCA8602566ITGA2Bc.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
17g.44374950G=CA2261365492ITGA2Bc.2841+48C= (n.2841+48C=)
c.2272+48C=
c.253+883C=
n.2163C=
17g.44374950G>TCA2638215005ITGA2Bc.2841+48C>A (n.2841+48C>A)
c.2272+48C>A
c.253+883C>A
n.2163C>A
 gnomAD v4
17g.44374951G>TCA2638215006ITGA2Bc.2841+47C>A (n.2841+47C>A)
c.2272+47C>A
c.253+882C>A
n.2162C>A
 gnomAD v4
17g.44374951_44374952delCA2809589788ITGA2Bc.2841+46_2841+47del (n.2841+46_2841+47del)
c.2272+46_2272+47del
c.253+881_253+882del
n.2161_2162del
17g.44374952T>CCA2261365495ITGA2Bc.2841+46A>G (n.2841+46A>G)
c.2272+46A>G
c.253+881A>G
n.2161A>G
 dbSNP
17g.44374952T=CA2261365496ITGA2Bc.2841+46A= (n.2841+46A=)
c.2272+46A=
c.253+881A=
n.2161A=
17g.44374952_44374971delinsTCCCCGCCCAGAAGGCCCGGCA2261365494ITGA2Bc.2841+27_2841+46delinsCCGGGCCTTCTGGGCGGGGA (n.2841+27_2841+46delinsCCGGGCCTTCTGGGCGGGGA)
c.2272+27_2272+46delinsCCGGGCCTTCTGGGCGGGGA
c.253+862_253+881delinsCCGGGCCTTCTGGGCGGGGA
n.2142_2161delinsCCGGGCCTTCTGGGCGGGGA
17g.44374952_44374953insGCA2638215010ITGA2Bc.2841+45_2841+46insC (n.2841+45_2841+46insC)
c.2272+45_2272+46insC
c.253+880_253+881insC
n.2160_2161insC
 gnomAD v4
17g.44374952_44374953insACCA2638215013ITGA2Bc.2841+45_2841+46insGT (n.2841+45_2841+46insGT)
c.2272+45_2272+46insGT
c.253+880_253+881insGT
n.2160_2161insGT
 gnomAD v4
17g.44374952_44374953insGCCA2638215011ITGA2Bc.2841+45_2841+46insGC (n.2841+45_2841+46insGC)
c.2272+45_2272+46insGC
c.253+880_253+881insGC
n.2160_2161insGC
 gnomAD v4
17g.44374952_44374953insGCCCA2809589789ITGA2Bc.2841+45_2841+46insGGC (n.2841+45_2841+46insGGC)
c.2272+45_2272+46insGGC
c.253+880_253+881insGGC
n.2160_2161insGGC
17g.44374953C>ACA2638215009ITGA2Bc.2841+45G>T (n.2841+45G>T)
c.2272+45G>T
c.253+880G>T
n.2160G>T
 gnomAD v4
17g.44374953C>GCA2638215008ITGA2Bc.2841+45G>C (n.2841+45G>C)
c.2272+45G>C
c.253+880G>C
n.2160G>C
 gnomAD v4
17g.44374953C>TCA2506225277ITGA2Bc.2841+45G>A (n.2841+45G>A)
c.2272+45G>A
c.253+880G>A
n.2160G>A
 gnomAD v4
17g.44374956dupCA2638215012ITGA2Bc.2841+45dup (n.2841+45dup)
c.2272+45dup
c.253+880dup
n.2160dup
 gnomAD v4
17g.44374955_44374956dupCA2638215007ITGA2Bc.2841+44_2841+45dup (n.2841+44_2841+45dup)
c.2272+44_2272+45dup
c.253+879_253+880dup
n.2159_2160dup
 gnomAD v4
17g.44374956delCA2576290932ITGA2Bc.2841+45del (n.2841+45del)
c.2272+45del
c.253+880del
n.2160del
17g.44374953_44374960dupCA2514754620ITGA2Bc.2841+38_2841+45dup (n.2841+38_2841+45dup)
c.2272+38_2272+45dup
c.253+873_253+880dup
n.2153_2160dup
17g.44374961_44374979delCA8602567ITGA2Bc.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
17g.44374955C>ACA2638215014ITGA2Bc.2841+43G>T (n.2841+43G>T)
c.2272+43G>T
c.253+878G>T
n.2158G>T
 gnomAD v4
17g.44374955C=CA2261365497ITGA2Bc.2841+43G= (n.2841+43G=)
c.2272+43G=
c.253+878G=
n.2158G=
17g.44374955C>TCA626119812ITGA2Bc.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
17g.44374956C>ACA2638215015ITGA2Bc.2841+42G>T (n.2841+42G>T)
c.2272+42G>T
c.253+877G>T
n.2157G>T
 gnomAD v4
17g.44374956C=CA2261365498ITGA2Bc.2841+42G= (n.2841+42G=)
c.2272+42G=
c.253+877G=
n.2157G=
17g.44374956C>GCA290946431ITGA2Bc.2841+42G>C (n.2841+42G>C)
c.2272+42G>C
c.253+877G>C
n.2157G>C
 dbSNP
17g.44374956C>TCA2261365499ITGA2Bc.2841+42G>A (n.2841+42G>A)
c.2272+42G>A
c.253+877G>A
n.2157G>A
 dbSNP gnomAD v4
17g.44374957delCA2638215016ITGA2Bc.2841+41del (n.2841+41del)
c.2272+41del
c.253+876del
n.2156del
 gnomAD v4
17g.44374957G>ACA2576290933ITGA2Bc.2841+41C>T (n.2841+41C>T)
c.2272+41C>T
c.253+876C>T
n.2156C>T
 gnomAD v4
17g.44374957G>CCA772285544ITGA2Bc.2841+41C>G (n.2841+41C>G)
c.2272+41C>G
c.253+876C>G
n.2156C>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374957G=CA2261365500ITGA2Bc.2841+41C= (n.2841+41C=)
c.2272+41C=
c.253+876C=
n.2156C=
17g.44374957G>TCA8602568ITGA2Bc.2841+41C>A (n.2841+41C>A)
c.2272+41C>A
c.253+876C>A
n.2156C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374961_44374974delCA2576290934ITGA2Bc.2841+28_2841+41del (n.2841+28_2841+41del)
c.2272+28_2272+41del
c.253+863_253+876del
n.2143_2156del
17g.44374958C>ACA2638215017ITGA2Bc.2841+40G>T (n.2841+40G>T)
c.2272+40G>T
c.253+875G>T
n.2155G>T
 gnomAD v4
17g.44374958C=CA2261365501ITGA2Bc.2841+40G= (n.2841+40G=)
c.2272+40G=
c.253+875G=
n.2155G=
17g.44374958C>TCA983995164ITGA2Bc.2841+40G>A (n.2841+40G>A)
c.2272+40G>A
c.253+875G>A
n.2155G>A
 dbSNP gnomAD v3 gnomAD v4
17g.44374959C>ACA2638215019ITGA2Bc.2841+39G>T (n.2841+39G>T)
c.2272+39G>T
c.253+874G>T
n.2154G>T
 gnomAD v4
17g.44374959C>GCA2638215020ITGA2Bc.2841+39G>C (n.2841+39G>C)
c.2272+39G>C
c.253+874G>C
n.2154G>C
 gnomAD v4
17g.44374961_44374978delCA2638215018ITGA2Bc.2841+22_2841+39del (n.2841+22_2841+39del)
c.2272+22_2272+39del
c.253+857_253+874del
n.2137_2154del
 gnomAD v4
17g.44374960C>ACA2638215022ITGA2Bc.2841+38G>T (n.2841+38G>T)
c.2272+38G>T
c.253+873G>T
n.2153G>T
 gnomAD v4
17g.44374960C=CA2261365502ITGA2Bc.2841+38G= (n.2841+38G=)
c.2272+38G=
c.253+873G=
n.2153G=
17g.44374960C>TCA626119818ITGA2Bc.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
17g.44374961_44374967delCA2638215021ITGA2Bc.2841+32_2841+38del (n.2841+32_2841+38del)
c.2272+32_2272+38del
c.253+867_253+873del
n.2147_2153del
 gnomAD v4
17g.44374960_44374961insCCACA2638215023ITGA2Bc.2841+37_2841+38insTGG (n.2841+37_2841+38insTGG)
c.2272+37_2272+38insTGG
c.253+872_253+873insTGG
n.2152_2153insTGG
 gnomAD v4
17g.44374961A=CA2261365503ITGA2Bc.2841+37T= (n.2841+37T=)
c.2272+37T=
c.253+872T=
n.2152T=
17g.44374961A>CCA772285547ITGA2Bc.2841+37T>G (n.2841+37T>G)
c.2272+37T>G
c.253+872T>G
n.2152T>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374961A>TCA2638215026ITGA2Bc.2841+37T>A (n.2841+37T>A)
c.2272+37T>A
c.253+872T>A
n.2152T>A
 gnomAD v4
17g.44374962_44374963delCA2638215024ITGA2Bc.2841+36_2841+37del (n.2841+36_2841+37del)
c.2272+36_2272+37del
c.253+871_253+872del
n.2151_2152del
 gnomAD v4
17g.44374963_44374965delCA2809589790ITGA2Bc.2841+35_2841+37del (n.2841+35_2841+37del)
c.2272+35_2272+37del
c.253+870_253+872del
n.2150_2152del
17g.44374961_44374966delCA2638215025ITGA2Bc.2841+32_2841+37del (n.2841+32_2841+37del)
c.2272+32_2272+37del
c.253+867_253+872del
n.2147_2152del
 gnomAD v4
17g.44374962delCA2638215028ITGA2Bc.2841+36del (n.2841+36del)
c.2272+36del
c.253+871del
n.2151del
 gnomAD v4
17g.44374962G>ACA772285549ITGA2Bc.2841+36C>T (n.2841+36C>T)
c.2272+36C>T
c.253+871C>T
n.2151C>T
 dbSNP gnomAD v4
17g.44374962G>CCA2576290935ITGA2Bc.2841+36C>G (n.2841+36C>G)
c.2272+36C>G
c.253+871C>G
n.2151C>G
 gnomAD v3 gnomAD v4
17g.44374962G=CA2261365504ITGA2Bc.2841+36C= (n.2841+36C=)
c.2272+36C=
c.253+871C=
n.2151C=
17g.44374962G>TCA2638215027ITGA2Bc.2841+36C>A (n.2841+36C>A)
c.2272+36C>A
c.253+871C>A
n.2151C>A
 gnomAD v4
17g.44374963A>CCA2638215031ITGA2Bc.2841+35T>G (n.2841+35T>G)
c.2272+35T>G
c.253+870T>G
n.2150T>G
 gnomAD v4
17g.44374963A>GCA2638215032ITGA2Bc.2841+35T>C (n.2841+35T>C)
c.2272+35T>C
c.253+870T>C
n.2150T>C
 gnomAD v4
17g.44374963A>TCA2638215033ITGA2Bc.2841+35T>A (n.2841+35T>A)
c.2272+35T>A
c.253+870T>A
n.2150T>A
 gnomAD v4
17g.44374963_44374964delCA2638215029ITGA2Bc.2841+34_2841+35del (n.2841+34_2841+35del)
c.2272+34_2272+35del
c.253+869_253+870del
n.2149_2150del
 gnomAD v4
17g.44374963_44374967delCA2638215030ITGA2Bc.2841+31_2841+35del (n.2841+31_2841+35del)
c.2272+31_2272+35del
c.253+866_253+870del
n.2146_2150del
 gnomAD v4
17g.44374964A>GCA2638215034ITGA2Bc.2841+34T>C (n.2841+34T>C)
c.2272+34T>C
c.253+869T>C
n.2149T>C
 gnomAD v4
17g.44374964_44374965insTCA2638215035ITGA2Bc.2841+33_2841+34insA (n.2841+33_2841+34insA)
c.2272+33_2272+34insA
c.253+868_253+869insA
n.2148_2149insA
 gnomAD v4
17g.44374965G>ACA2638215037ITGA2Bc.2841+33C>T (n.2841+33C>T)
c.2272+33C>T
c.253+868C>T
n.2148C>T
 gnomAD v4
17g.44374965G>CCA2638215036ITGA2Bc.2841+33C>G (n.2841+33C>G)
c.2272+33C>G
c.253+868C>G
n.2148C>G
 gnomAD v4
17g.44374965G>TCA2576290936ITGA2Bc.2841+33C>A (n.2841+33C>A)
c.2272+33C>A
c.253+868C>A
n.2148C>A
 gnomAD v4
17g.44374965_44374966delCA2638215039ITGA2Bc.2841+32_2841+33del (n.2841+32_2841+33del)
c.2272+32_2272+33del
c.253+867_253+868del
n.2147_2148del
 gnomAD v4
17g.44374966_44374971delCA2638215040ITGA2Bc.2841+28_2841+33del (n.2841+28_2841+33del)
c.2272+28_2272+33del
c.253+863_253+868del
n.2143_2148del
 gnomAD v4
17g.44374970_44374974delCA2638215038ITGA2Bc.2841+29_2841+33del (n.2841+29_2841+33del)
c.2272+29_2272+33del
c.253+864_253+868del
n.2144_2148del
 gnomAD v4
17g.44374970_44374990delCA2740093760ITGA2Bc.2841+13_2841+33del (n.2841+13_2841+33del)
c.2272+13_2272+33del
c.253+848_253+868del
n.2128_2148del
 ClinVar
17g.44374966G>ACA2638215041ITGA2Bc.2841+32C>T (n.2841+32C>T)
c.2272+32C>T
c.253+867C>T
n.2147C>T
 gnomAD v4
17g.44374966G>CCA2638215042ITGA2Bc.2841+32C>G (n.2841+32C>G)
c.2272+32C>G
c.253+867C>G
n.2147C>G
 gnomAD v4
17g.44374966G>TCA2576290937ITGA2Bc.2841+32C>A (n.2841+32C>A)
c.2272+32C>A
c.253+867C>A
n.2147C>A
 gnomAD v4
17g.44374966_44374967delinsGCCA2261365505ITGA2Bc.2841+31_2841+32delinsGC (n.2841+31_2841+32delinsGC)
c.2272+31_2272+32delinsGC
c.253+866_253+867delinsGC
n.2146_2147delinsGC
17g.44374966_44374982delinsGCCCGGCCCCGCCCCACCA2261365506ITGA2Bc.2841+16_2841+32delinsGTGGGGCGGGGCCGGGC (n.2841+16_2841+32delinsGTGGGGCGGGGCCGGGC)
c.2272+16_2272+32delinsGTGGGGCGGGGCCGGGC
c.253+851_253+867delinsGTGGGGCGGGGCCGGGC
n.2131_2147delinsGTGGGGCGGGGCCGGGC
17g.44374967C>GCA2638215043ITGA2Bc.2841+31G>C (n.2841+31G>C)
c.2272+31G>C
c.253+866G>C
n.2146G>C
 gnomAD v4
17g.44374969dupCA2576290938ITGA2Bc.2841+31dup (n.2841+31dup)
c.2272+31dup
c.253+866dup
n.2146dup
 gnomAD v4
17g.44374969delCA772285551ITGA2Bc.2841+31del (n.2841+31del)
c.2272+31del
c.253+866del
n.2146del
 dbSNP gnomAD v3 gnomAD v4
17g.44374968_44374983delCA2261365507ITGA2Bc.2841+16_2841+31del (n.2841+16_2841+31del)
c.2272+16_2272+31del
c.253+851_253+866del
n.2131_2146del
 dbSNP
17g.44374968C=CA2261365508ITGA2Bc.2841+30G= (n.2841+30G=)
c.2272+30G=
c.253+865G=
n.2145G=
17g.44374968C>TCA626119822ITGA2Bc.2841+30G>A (n.2841+30G>A)
c.2272+30G>A
c.253+865G>A
n.2145G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44374968_44374970delCA2638215044ITGA2Bc.2841+28_2841+30del (n.2841+28_2841+30del)
c.2272+28_2272+30del
c.253+863_253+865del
n.2143_2145del
 gnomAD v4
17g.44374969C>ACA2638215045ITGA2Bc.2841+29G>T (n.2841+29G>T)
c.2272+29G>T
c.253+864G>T
n.2144G>T
 gnomAD v4
17g.44374969C=CA2261365509ITGA2Bc.2841+29G= (n.2841+29G=)
c.2272+29G=
c.253+864G=
n.2144G=
17g.44374969C>TCA626119823ITGA2Bc.2841+29G>A (n.2841+29G>A)
c.2272+29G>A
c.253+864G>A
n.2144G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44374969_44374970insACA2638215049ITGA2Bc.2841+28_2841+29insT (n.2841+28_2841+29insT)
c.2272+28_2272+29insT
c.253+863_253+864insT
n.2143_2144insT
 gnomAD v4
17g.44374969_44374970insAACA2261365510ITGA2Bc.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
17g.44374969_44374970insTACA2638215048ITGA2Bc.2841+28_2841+29insTA (n.2841+28_2841+29insTA)
c.2272+28_2272+29insTA
c.253+863_253+864insTA
n.2143_2144insTA
 gnomAD v4
17g.44374970G>ACA8602569ITGA2Bc.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
17g.44374970G>CCA772285559ITGA2Bc.2841+28C>G (n.2841+28C>G)
c.2272+28C>G
c.253+863C>G
n.2143C>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374970G=CA2261365511ITGA2Bc.2841+28C= (n.2841+28C=)
c.2272+28C=
c.253+863C=
n.2143C=
17g.44374970G>TCA2638215047ITGA2Bc.2841+28C>A (n.2841+28C>A)
c.2272+28C>A
c.253+863C>A
n.2143C>A
 gnomAD v4
17g.44374971dupCA2638215046ITGA2Bc.2841+28dup (n.2841+28dup)
c.2272+28dup
c.253+863dup
n.2143dup
 gnomAD v4
17g.44374971G>ACA2576290939ITGA2Bc.2841+27C>T (n.2841+27C>T)
c.2272+27C>T
c.253+862C>T
n.2142C>T
 gnomAD v4
17g.44374971G>CCA2638215051ITGA2Bc.2841+27C>G (n.2841+27C>G)
c.2272+27C>G
c.253+862C>G
n.2142C>G
 gnomAD v4
17g.44374971G>TCA2576290940ITGA2Bc.2841+27C>A (n.2841+27C>A)
c.2272+27C>A
c.253+862C>A
n.2142C>A
 gnomAD v4
17g.44374976_44374980delCA2638215050ITGA2Bc.2841+23_2841+27del (n.2841+23_2841+27del)
c.2272+23_2272+27del
c.253+858_253+862del
n.2138_2142del
 gnomAD v4
17g.44374971_44374972insGCCCCCCCCCCCA2638215055ITGA2Bc.2841+26_2841+27insGGGGGGGGGGC (n.2841+26_2841+27insGGGGGGGGGGC)
c.2272+26_2272+27insGGGGGGGGGGC
c.253+861_253+862insGGGGGGGGGGC
n.2141_2142insGGGGGGGGGGC
 gnomAD v4
17g.44374972C=CA2261365512ITGA2Bc.2841+26G= (n.2841+26G=)
c.2272+26G=
c.253+861G=
n.2141G=
17g.44374972C>GCA2638215053ITGA2Bc.2841+26G>C (n.2841+26G>C)
c.2272+26G>C
c.253+861G>C
n.2141G>C
 gnomAD v4
17g.44374972C>TCA626119829ITGA2Bc.2841+26G>A (n.2841+26G>A)
c.2272+26G>A
c.253+861G>A
n.2141G>A
 gnomAD v2 gnomAD v4
17g.44374975_44374976insCCCCCCA2638215059ITGA2Bc.2841+26_2841+27insGGGGG (n.2841+26_2841+27insGGGGG)
c.2272+26_2272+27insGGGGG
c.253+861_253+862insGGGGG
n.2141_2142insGGGGG
 gnomAD v4
17g.44374975_44374976insCCCCCCCA2638215058ITGA2Bc.2841+26_2841+27insGGGGGG (n.2841+26_2841+27insGGGGGG)
c.2272+26_2272+27insGGGGGG
c.253+861_253+862insGGGGGG
n.2141_2142insGGGGGG
 gnomAD v4
17g.44374975_44374976insCCCCCCCCCCCA2638215056ITGA2Bc.2841+26_2841+27insGGGGGGGGGG (n.2841+26_2841+27insGGGGGGGGGG)
c.2272+26_2272+27insGGGGGGGGGG
c.253+861_253+862insGGGGGGGGGG
n.2141_2142insGGGGGGGGGG
 gnomAD v4
17g.44374975_44374976insCCCCCACCCCCCA2638215057ITGA2Bc.2841+26_2841+27insGTGGGGGGGGG (n.2841+26_2841+27insGTGGGGGGGGG)
c.2272+26_2272+27insGTGGGGGGGGG
c.253+861_253+862insGTGGGGGGGGG
n.2141_2142insGTGGGGGGGGG
 gnomAD v4
17g.44374975_44374976insCCCCCCCCCCCCA2638215061ITGA2Bc.2841+26_2841+27insGGGGGGGGGGG (n.2841+26_2841+27insGGGGGGGGGGG)
c.2272+26_2272+27insGGGGGGGGGGG
c.253+861_253+862insGGGGGGGGGGG
n.2141_2142insGGGGGGGGGGG
 gnomAD v4
17g.44374975dupCA2638215060ITGA2Bc.2841+26dup (n.2841+26dup)
c.2272+26dup
c.253+861dup
n.2141dup
 gnomAD v4
17g.44374973_44374975dupCA2638215052ITGA2Bc.2841+24_2841+26dup (n.2841+24_2841+26dup)
c.2272+24_2272+26dup
c.253+859_253+861dup
n.2139_2141dup
 gnomAD v4
17g.44374975delCA2638215054ITGA2Bc.2841+26del (n.2841+26del)
c.2272+26del
c.253+861del
n.2141del
 gnomAD v4
17g.44374973C>ACA2638215063ITGA2Bc.2841+25G>T (n.2841+25G>T)
c.2272+25G>T
c.253+860G>T
n.2140G>T
 gnomAD v4
17g.44374973C=CA2261365513ITGA2Bc.2841+25G= (n.2841+25G=)
c.2272+25G=
c.253+860G=
n.2140G=
17g.44374973C>TCA290946447ITGA2Bc.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
17g.44374976_44374990dupCA626119831ITGA2Bc.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
17g.44374976_44374990delCA2638215062ITGA2Bc.2841+11_2841+25del (n.2841+11_2841+25del)
c.2272+11_2272+25del
c.253+846_253+860del
n.2126_2140del
 gnomAD v4
17g.44374974C>TCA2638215065ITGA2Bc.2841+24G>A (n.2841+24G>A)
c.2272+24G>A
c.253+859G>A
n.2139G>A
 gnomAD v4
17g.44374975_44374976insCCCCCCCCACCCA2638215064ITGA2Bc.2841+24_2841+25insTGGGGGGGGGG (n.2841+24_2841+25insTGGGGGGGGGG)
c.2272+24_2272+25insTGGGGGGGGGG
c.253+859_253+860insTGGGGGGGGGG
n.2139_2140insTGGGGGGGGGG
 gnomAD v4
17g.44374975_44374976insCCCCCCCCCCCGCCCCCCCCCCCCACCCA2638215066ITGA2Bc.2841+24_2841+25insTGGGGGGGGGGGGCGGGGGGGGGGGGG (n.2841+24_2841+25insTGGGGGGGGGGGGCGGGGGGGGGGGGG)
c.2272+24_2272+25insTGGGGGGGGGGGGCGGGGGGGGGGGGG
c.253+859_253+860insTGGGGGGGGGGGGCGGGGGGGGGGGGG
n.2139_2140insTGGGGGGGGGGGGCGGGGGGGGGGGGG
 gnomAD v4
17g.44374975C>ACA2638215067ITGA2Bc.2841+23G>T (n.2841+23G>T)
c.2272+23G>T
c.253+858G>T
n.2138G>T
 gnomAD v4
17g.44374975C>GCA2638215068ITGA2Bc.2841+23G>C (n.2841+23G>C)
c.2272+23G>C
c.253+858G>C
n.2138G>C
 gnomAD v4
17g.44374975C>TCA2638215069ITGA2Bc.2841+23G>A (n.2841+23G>A)
c.2272+23G>A
c.253+858G>A
n.2138G>A
 dbSNP gnomAD v4
17g.44374976delCA2576290941ITGA2Bc.2841+22del (n.2841+22del)
c.2272+22del
c.253+857del
n.2137del
 gnomAD v4
17g.44374976G>ACA626119835ITGA2Bc.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
17g.44374976G>CCA626119836ITGA2Bc.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
17g.44374976G=CA2261365514ITGA2Bc.2841+22C= (n.2841+22C=)
c.2272+22C=
c.253+857C=
n.2137C=
17g.44374976G>TCA2638215070ITGA2Bc.2841+22C>A (n.2841+22C>A)
c.2272+22C>A
c.253+857C>A
n.2137C>A
 gnomAD v4
17g.44374977C>ACA2638215073ITGA2Bc.2841+21G>T (n.2841+21G>T)
c.2272+21G>T
c.253+856G>T
n.2136G>T
 gnomAD v4
17g.44374977C>TCA2638215072ITGA2Bc.2841+21G>A (n.2841+21G>A)
c.2272+21G>A
c.253+856G>A
n.2136G>A
 gnomAD v4
17g.44374980_44374981insCCCCCCA2638215079ITGA2Bc.2841+21_2841+22insGGGGG (n.2841+21_2841+22insGGGGG)
c.2272+21_2272+22insGGGGG
c.253+856_253+857insGGGGG
n.2136_2137insGGGGG
 gnomAD v4
17g.44374980_44374981insCCCCCCCA2638215078ITGA2Bc.2841+21_2841+22insGGGGGG (n.2841+21_2841+22insGGGGGG)
c.2272+21_2272+22insGGGGGG
c.253+856_253+857insGGGGGG
n.2136_2137insGGGGGG
 gnomAD v4
17g.44374980_44374981insCCCCCCCCA2638215077ITGA2Bc.2841+21_2841+22insGGGGGGG (n.2841+21_2841+22insGGGGGGG)
c.2272+21_2272+22insGGGGGGG
c.253+856_253+857insGGGGGGG
n.2136_2137insGGGGGGG
 gnomAD v4
17g.44374980_44374981insCCCCCCCCCA2638215076ITGA2Bc.2841+21_2841+22insGGGGGGGG (n.2841+21_2841+22insGGGGGGGG)
c.2272+21_2272+22insGGGGGGGG
c.253+856_253+857insGGGGGGGG
n.2136_2137insGGGGGGGG
 gnomAD v4
17g.44374980_44374981insCCCCCCGCCCCCCCCCA2638215071ITGA2Bc.2841+21_2841+22insGGGGCGGGGGGGGGG (n.2841+21_2841+22insGGGGCGGGGGGGGGG)
c.2272+21_2272+22insGGGGCGGGGGGGGGG
c.253+856_253+857insGGGGCGGGGGGGGGG
n.2136_2137insGGGGCGGGGGGGGGG
 gnomAD v4
17g.44374980dupCA2638215084ITGA2Bc.2841+21dup (n.2841+21dup)
c.2272+21dup
c.253+856dup
n.2136dup
 gnomAD v4
17g.44374979_44374980dupCA2638215083ITGA2Bc.2841+20_2841+21dup (n.2841+20_2841+21dup)
c.2272+20_2272+21dup
c.253+855_253+856dup
n.2135_2136dup
 gnomAD v4
17g.44374978_44374980dupCA2638215082ITGA2Bc.2841+19_2841+21dup (n.2841+19_2841+21dup)
c.2272+19_2272+21dup
c.253+854_253+856dup
n.2134_2136dup
 gnomAD v4
17g.44374977_44374980dupCA2638215081ITGA2Bc.2841+18_2841+21dup (n.2841+18_2841+21dup)
c.2272+18_2272+21dup
c.253+853_253+856dup
n.2133_2136dup
 gnomAD v4
17g.44374980delCA2638215075ITGA2Bc.2841+21del (n.2841+21del)
c.2272+21del
c.253+856del
n.2136del
 gnomAD v4
17g.44374979_44374983dupCA2638215080ITGA2Bc.2841+17_2841+21dup (n.2841+17_2841+21dup)
c.2272+17_2272+21dup
c.253+852_253+856dup
n.2132_2136dup
 gnomAD v4
17g.44374984_44374998delCA2638215074ITGA2Bc.2841+7_2841+21del
c.2272+7_2272+21del
c.253+842_253+856del
n.2122_2136del
 gnomAD v4
17g.44374978C>TCA2576290942ITGA2Bc.2841+20G>A (n.2841+20G>A)
c.2272+20G>A
c.253+855G>A
n.2135G>A
 gnomAD v4
17g.44374979C>ACA2638215085ITGA2Bc.2841+19G>T (n.2841+19G>T)
c.2272+19G>T
c.253+854G>T
n.2134G>T
 gnomAD v4
17g.44374979C>TCA2576290943ITGA2Bc.2841+19G>A (n.2841+19G>A)
c.2272+19G>A
c.253+854G>A
n.2134G>A
 gnomAD v4
17g.44374980C>ACA2638215088ITGA2Bc.2841+18G>T (n.2841+18G>T)
c.2272+18G>T
c.253+853G>T
n.2133G>T
 gnomAD v4
17g.44374980C=CA2261365515ITGA2Bc.2841+18G= (n.2841+18G=)
c.2272+18G=
c.253+853G=
n.2133G=
17g.44374980C>TCA626119839ITGA2Bc.2841+18G>A (n.2841+18G>A)
c.2272+18G>A
c.253+853G>A
n.2133G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44374981_44374982delCA2638215087ITGA2Bc.2841+17_2841+18del (n.2841+17_2841+18del)
c.2272+17_2272+18del
c.253+852_253+853del
n.2132_2133del
 gnomAD v4
17g.44374981_44374988delCA2638215086ITGA2Bc.2841+11_2841+18del (n.2841+11_2841+18del)
c.2272+11_2272+18del
c.253+846_253+853del
n.2126_2133del
 gnomAD v4
17g.44374981delCA2638215089ITGA2Bc.2841+17del (n.2841+17del)
c.2272+17del
c.253+852del
n.2132del
 gnomAD v4
17g.44374981A=CA2261365516ITGA2Bc.2841+17T= (n.2841+17T=)
c.2272+17T=
c.253+852T=
n.2132T=
17g.44374981A>CCA626119840ITGA2Bc.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
17g.44374981_44374984delCA2638215090ITGA2Bc.2841+14_2841+17del (n.2841+14_2841+17del)
c.2272+14_2272+17del
c.253+849_253+852del
n.2129_2132del
 gnomAD v4
17g.44374981_44374987delCA2594317909ITGA2Bc.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
17g.44374982C>ACA2638215092ITGA2Bc.2841+16G>T (n.2841+16G>T)
c.2272+16G>T
c.253+851G>T
n.2131G>T
 gnomAD v4
17g.44374982C=CA2261365517ITGA2Bc.2841+16G= (n.2841+16G=)
c.2272+16G=
c.253+851G=
n.2131G=
17g.44374982C>TCA626119846ITGA2Bc.2841+16G>A (n.2841+16G>A)
c.2272+16G>A
c.253+851G>A
n.2131G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44374983dupCA2638215091ITGA2Bc.2841+16dup (n.2841+16dup)
c.2272+16dup
c.253+851dup
n.2131dup
 gnomAD v4
17g.44374983C>ACA290946452ITGA2Bc.2841+15G>T (n.2841+15G>T)
c.2272+15G>T
c.253+850G>T
n.2130G>T
 dbSNP gnomAD v3 gnomAD v4
17g.44374983C=CA2261365518ITGA2Bc.2841+15G= (n.2841+15G=)
c.2272+15G=
c.253+850G=
n.2130G=
17g.44374984A=CA2261365519ITGA2Bc.2841+14T= (n.2841+14T=)
c.2272+14T=
c.253+849T=
n.2129T=
17g.44374984A>CCA983995174ITGA2Bc.2841+14T>G (n.2841+14T>G)
c.2272+14T>G
c.253+849T>G
n.2129T>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374984A>GCA626119849ITGA2Bc.2841+14T>C (n.2841+14T>C)
c.2272+14T>C
c.253+849T>C
n.2129T>C
 dbSNP gnomAD v2 gnomAD v4
17g.44374984_44374987delCA2638215093ITGA2Bc.2841+11_2841+14del (n.2841+11_2841+14del)
c.2272+11_2272+14del
c.253+846_253+849del
n.2126_2129del
 gnomAD v4
17g.44374985delCA2638215094ITGA2Bc.2841+13del (n.2841+13del)
c.2272+13del
c.253+848del
n.2128del
 gnomAD v4
17g.44374985C>ACA290946454ITGA2Bc.2841+13G>T (n.2841+13G>T)
c.2272+13G>T
c.253+848G>T
n.2128G>T
 dbSNP gnomAD v4
17g.44374985C=CA2261365520ITGA2Bc.2841+13G= (n.2841+13G=)
c.2272+13G=
c.253+848G=
n.2128G=
17g.44374985C>TCA8602570ITGA2Bc.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
17g.44374985dupCA2576290945ITGA2Bc.2841+13dup (n.2841+13dup)
c.2272+13dup
c.253+848dup
n.2128dup
 gnomAD v4
17g.44374986G>ACA2638215097ITGA2Bc.2841+12C>T (n.2841+12C>T)
c.2272+12C>T
c.253+847C>T
n.2127C>T
 gnomAD v4
17g.44374986G>CCA983995179ITGA2Bc.2841+12C>G (n.2841+12C>G)
c.2272+12C>G
c.253+847C>G
n.2127C>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374986G=CA2261365521ITGA2Bc.2841+12C= (n.2841+12C=)
c.2272+12C=
c.253+847C=
n.2127C=
17g.44374986G>TCA2638215096ITGA2Bc.2841+12C>A (n.2841+12C>A)
c.2272+12C>A
c.253+847C>A
n.2127C>A
 gnomAD v4
17g.44374986_44374987delCA2638215095ITGA2Bc.2841+11_2841+12del (n.2841+11_2841+12del)
c.2272+11_2272+12del
c.253+846_253+847del
n.2126_2127del
 gnomAD v4
17g.44374986_44374987insCCCCCCCCCCCCCCCCA2638215098ITGA2Bc.2841+11_2841+12insGGGGGGGGGGGGGGG (n.2841+11_2841+12insGGGGGGGGGGGGGGG)
c.2272+11_2272+12insGGGGGGGGGGGGGGG
c.253+846_253+847insGGGGGGGGGGGGGGG
n.2126_2127insGGGGGGGGGGGGGGG
 gnomAD v4
17g.44374987G>ACA2638215101ITGA2Bc.2841+11C>T (n.2841+11C>T)
c.2272+11C>T
c.253+846C>T
n.2126C>T
 gnomAD v4
17g.44374987G>CCA2638215100ITGA2Bc.2841+11C>G (n.2841+11C>G)
c.2272+11C>G
c.253+846C>G
n.2126C>G
 gnomAD v4
17g.44374987G=CA2261365522ITGA2Bc.2841+11C= (n.2841+11C=)
c.2272+11C=
c.253+846C=
n.2126C=
17g.44374987G>TCA2638215099ITGA2Bc.2841+11C>A (n.2841+11C>A)
c.2272+11C>A
c.253+846C>A
n.2126C>A
 gnomAD v4
17g.44374988C=CA2261365523ITGA2Bc.2841+10G= (n.2841+10G=)
c.2272+10G=
c.253+845G=
n.2125G=
17g.44374988C>GCA626119859ITGA2Bc.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
17g.44374988C>TCA8602571ITGA2Bc.2841+10G>A (n.2841+10G>A)
c.2272+10G>A
c.253+845G>A
n.2125G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374988_44374990dupCA2638215102ITGA2Bc.2841+8_2841+10dup (n.2841+8_2841+10dup)
c.2272+8_2272+10dup
c.253+843_253+845dup
n.2123_2125dup
 gnomAD v4
17g.44374990delCA2638215103ITGA2Bc.2841+10del (n.2841+10del)
c.2272+10del
c.253+845del
n.2125del
 gnomAD v4
17g.44374994_44374998dupCA626119855ITGA2Bc.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
17g.44374994_44374998delCA2638215104ITGA2Bc.2841+6_2841+10del
c.2272+6_2272+10del
c.253+841_253+845del
n.2121_2125del
 gnomAD v4
17g.44374989C>ACA2638215105ITGA2Bc.2841+9G>T (n.2841+9G>T)
c.2272+9G>T
c.253+844G>T
n.2124G>T
 gnomAD v4
17g.44374989C=CA2261365524ITGA2Bc.2841+9G= (n.2841+9G=)
c.2272+9G=
c.253+844G=
n.2124G=
17g.44374989C>GCA626119863ITGA2Bc.2841+9G>C (n.2841+9G>C)
c.2272+9G>C
c.253+844G>C
n.2124G>C
 dbSNP gnomAD v2 gnomAD v4
17g.44374989C>TCA2638215106ITGA2Bc.2841+9G>A (n.2841+9G>A)
c.2272+9G>A
c.253+844G>A
n.2124G>A
 gnomAD v4
17g.44374990C>ACA2638215107ITGA2Bc.2841+8G>T (n.2841+8G>T)
c.2272+8G>T
c.253+843G>T
n.2123G>T
 gnomAD v4
17g.44374990C=CA2261365525ITGA2Bc.2841+8G= (n.2841+8G=)
c.2272+8G=
c.253+843G=
n.2123G=
17g.44374990C>TCA2261365526ITGA2Bc.2841+8G>A (n.2841+8G>A)
c.2272+8G>A
c.253+843G>A
n.2123G>A
 dbSNP gnomAD v4
17g.44374991delCA2638215108ITGA2Bc.2841+7del (n.2841+7del)
c.2272+7del
c.253+842del
n.2122del
 gnomAD v4
17g.44374991A=CA2261365527ITGA2Bc.2841+7T= (n.2841+7T=)
c.2272+7T=
c.253+842T=
n.2122T=
17g.44374991A>CCA626119865ITGA2Bc.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
17g.44374991A>GCA2261365528ITGA2Bc.2841+7T>C (n.2841+7T>C)
c.2272+7T>C
c.253+842T>C
n.2122T>C
 dbSNP gnomAD v4
17g.44374991A>TCA2638215109ITGA2Bc.2841+7T>A (n.2841+7T>A)
c.2272+7T>A
c.253+842T>A
n.2122T>A
 gnomAD v4
17g.44374992C>ACA2638215111ITGA2Bc.2841+6G>T (n.2841+6G>T)
c.2272+6G>T
c.253+841G>T
n.2121G>T
 gnomAD v4
17g.44374992C>TCA2638215112ITGA2Bc.2841+6G>A (n.2841+6G>A)
c.2272+6G>A
c.253+841G>A
n.2121G>A
 gnomAD v4
17g.44374995delCA2638215110ITGA2Bc.2841+6del (n.2841+6del)
c.2272+6del
c.253+841del
n.2121del
 gnomAD v4
17g.44374993C>ACA2638215113ITGA2Bc.2841+5G>T (n.2841+5G>T)
c.2272+5G>T
c.253+840G>T
n.2120G>T
 gnomAD v4
17g.44374993C=CA2261365529ITGA2Bc.2841+5G= (n.2841+5G=)
c.2272+5G=
c.253+840G=
n.2120G=
17g.44374993C>TCA626119867ITGA2Bc.2841+5G>A (n.2841+5G>A)
c.2272+5G>A
c.253+840G>A
n.2120G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44374994C>ACA2638215114ITGA2Bc.2841+4G>T (n.2841+4G>T)
c.2272+4G>T
c.253+839G>T
n.2119G>T
 gnomAD v4
17g.44374994C>TCA2638215115ITGA2Bc.2841+4G>A (n.2841+4G>A)
c.2272+4G>A
c.253+839G>A
n.2119G>A
 gnomAD v4
17g.44374995C>ACA2261365531ITGA2Bc.2841+3G>T (n.2841+3G>T)
c.2272+3G>T
c.253+838G>T
n.2118G>T
 dbSNP gnomAD v4
17g.44374995C=CA2261365530ITGA2Bc.2841+3G= (n.2841+3G=)
c.2272+3G=
c.253+838G=
n.2118G=
17g.44374995C>TCA2638215116ITGA2Bc.2841+3G>A (n.2841+3G>A)
c.2272+3G>A
c.253+838G>A
n.2118G>A
 gnomAD v4
17g.44374996delCA2638215117ITGA2Bc.2841+2del (n.2841+2del)
c.2272+2del
c.253+837del
n.2117del
 gnomAD v4
17g.44374996A=CA2261365532ITGA2Bc.2841+2T= (n.2841+2T=)
c.2272+2T=
c.253+837T=
n.2117T=
17g.44374996A>CCA399791495ITGA2Bc.2841+2T>G (n.2841+2T>G)
c.2272+2T>G
c.253+837T>G
n.2117T>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374996A>GCA399791499ITGA2Bc.2841+2T>C (n.2841+2T>C)
c.2272+2T>C
c.253+837T>C
n.2117T>C
 gnomAD v4
17g.44374996A>TCA399791501ITGA2Bc.2841+2T>A (n.2841+2T>A)
c.2272+2T>A
c.253+837T>A
n.2117T>A
17g.44374997C>ACA399791504ITGA2Bc.2841+1G>T (n.2841+1G>T)
c.2272+1G>T
c.253+836G>T
n.2116G>T
 gnomAD v4
17g.44374997C>GCA399791516ITGA2Bc.2841+1G>C (n.2841+1G>C)
c.2272+1G>C
c.253+836G>C
n.2116G>C
17g.44374997C>TCA399791513ITGA2Bc.2841+1G>A (n.2841+1G>A)
c.2272+1G>A
c.253+836G>A
n.2116G>A
 gnomAD v4
17g.44374998C>ACA399791524ITGA2Bc.2841G>T (p.Gln947His)
c.2272G>T
c.253+835G>T
n.2115G>T
 gnomAD v4
17g.44374998C=CA2261365533ITGA2Bc.2841G= (p.Gln947=)
c.2272G=
c.253+835G=
n.2115G=
17g.44374998C>GCA399791527ITGA2Bc.2841G>C (p.Gln947His)
c.2272G>C
c.253+835G>C
n.2115G>C
 dbSNP
17g.44374998C>TCA500263469ITGA2Bc.2841G>A (p.Gln947=)
c.2272G>A
c.253+835G>A
n.2115G>A
17g.44374999T>ACA399791528ITGA2Bc.2840A>T (p.Gln947Leu)
c.2271A>T
c.253+834A>T
n.2114A>T
 dbSNP gnomAD v3 gnomAD v4
17g.44374999T>CCA399791530ITGA2Bc.2840A>G (p.Gln947Arg)
c.2271A>G
c.253+834A>G
n.2114A>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374999T>GCA399791529ITGA2Bc.2840A>C (p.Gln947Pro)
c.2271A>C
c.253+834A>C
n.2114A>C
 dbSNP gnomAD v4
17g.44374999T=CA2261365534ITGA2Bc.2840A= (p.Gln947=)
c.2271A=
c.253+834A=
n.2114A=
17g.44375000G>ACA399791531ITGA2Bc.2839C>T (p.Gln947Ter)
c.2270C>T
c.253+833C>T
n.2113C>T
 gnomAD v4
17g.44375000G>CCA399791533ITGA2Bc.2839C>G (p.Gln947Glu)
c.2270C>G
c.253+833C>G
n.2113C>G
17g.44375000G>TCA399791532ITGA2Bc.2839C>A (p.Gln947Lys)
c.2270C>A
c.253+833C>A
n.2113C>A
 gnomAD v4
17g.44375001delCA2638215118ITGA2Bc.2839del (p.Gln947ArgfsTer?)
c.2270del
c.253+833del
n.2113del
 gnomAD v4
17g.44375001G>ACA500263482ITGA2Bc.2838C>T (p.Tyr946=)
c.2269C>T
c.253+832C>T
n.2112C>T
 gnomAD v4
17g.44375001G>CCA399791534ITGA2Bc.2838C>G (p.Tyr946Ter)
c.2269C>G
c.253+832C>G
n.2112C>G
17g.44375001G>TCA399791536ITGA2Bc.2838C>A (p.Tyr946Ter)
c.2269C>A
c.253+832C>A
n.2112C>A
 gnomAD v4
17g.44375002T>ACA399791538ITGA2Bc.2837A>T (p.Tyr946Phe)
c.2268A>T
c.253+831A>T
n.2111A>T
17g.44375002T>CCA399791541ITGA2Bc.2837A>G (p.Tyr946Cys)
c.2268A>G
c.253+831A>G
n.2111A>G
17g.44375002T>GCA399791546ITGA2Bc.2837A>C (p.Tyr946Ser)
c.2268A>C
c.253+831A>C
n.2111A>C
 gnomAD v4
17g.44375003A>CCA399791548ITGA2Bc.2836T>G (p.Tyr946Asp)
c.2267T>G
c.253+830T>G
n.2110T>G
17g.44375003A>GCA399791552ITGA2Bc.2836T>C (p.Tyr946His)
c.2267T>C
c.253+830T>C
n.2110T>C
17g.44375003A>TCA399791555ITGA2Bc.2836T>A (p.Tyr946Asn)
c.2267T>A
c.253+830T>A
n.2110T>A
 gnomAD v4
17g.44375004G>ACA500263498ITGA2Bc.2835C>T (p.Leu945=)
c.2266C>T
c.253+829C>T
n.2109C>T
 COSMIC
17g.44375004G>CCA500263506ITGA2Bc.2835C>G (p.Leu945=)
c.2266C>G
c.253+829C>G
n.2109C>G
17g.44375004G>TCA500263508ITGA2Bc.2835C>A (p.Leu945=)
c.2266C>A
c.253+829C>A
n.2109C>A
 gnomAD v4
17g.44375005A>CCA399791559ITGA2Bc.2834T>G (p.Leu945Arg)
c.2265T>G
c.253+828T>G
n.2108T>G
17g.44375005A>GCA399791561ITGA2Bc.2834T>C (p.Leu945Pro)
c.2265T>C
c.253+828T>C
n.2108T>C
17g.44375005A>TCA399791564ITGA2Bc.2834T>A (p.Leu945His)
c.2265T>A
c.253+828T>A
n.2108T>A
 gnomAD v4
17g.44375006G>ACA399791567ITGA2Bc.2833C>T (p.Leu945Phe)
c.2264C>T
c.253+827C>T
n.2107C>T
17g.44375006G>CCA399791572ITGA2Bc.2833C>G (p.Leu945Val)
c.2264C>G
c.253+827C>G
n.2107C>G
17g.44375006G>TCA399791577ITGA2Bc.2833C>A (p.Leu945Ile)
c.2264C>A
c.253+827C>A
n.2107C>A
 gnomAD v4
17g.44375007G>ACA500263523ITGA2Bc.2832C>T (p.Ser944=)
c.2263C>T
c.253+826C>T
n.2106C>T
 gnomAD v4
17g.44375007G>CCA399791583ITGA2Bc.2832C>G (p.Ser944Arg)
c.2263C>G
c.253+826C>G
n.2106C>G
17g.44375007G=CA2261365535ITGA2Bc.2832C= (p.Ser944=)
c.2263C=
c.253+826C=
n.2106C=
17g.44375007G>TCA399791580ITGA2Bc.2832C>A (p.Ser944Arg)
c.2263C>A
c.253+826C>A
n.2106C>A
 dbSNP gnomAD v4
17g.44375008C>ACA399791587ITGA2Bc.2831G>T (p.Ser944Ile)
c.2262G>T
c.253+825G>T
n.2105G>T
17g.44375008C>GCA399791591ITGA2Bc.2831G>C (p.Ser944Thr)
c.2262G>C
c.253+825G>C
n.2105G>C
17g.44375008C>TCA399791594ITGA2Bc.2831G>A (p.Ser944Asn)
c.2262G>A
c.253+825G>A
n.2105G>A
 gnomAD v4
17g.44375009T>ACA399791597ITGA2Bc.2830A>T (p.Ser944Cys)
c.2261A>T
c.253+824A>T
n.2104A>T
17g.44375009T>CCA399791607ITGA2Bc.2830A>G (p.Ser944Gly)
c.2261A>G
c.253+824A>G
n.2104A>G
 gnomAD v4
17g.44375009T>GCA399791608ITGA2Bc.2830A>C (p.Ser944Arg)
c.2261A>C
c.253+824A>C
n.2104A>C
 gnomAD v4
17g.44375010G>ACA500263536ITGA2Bc.2829C>T (p.Pro943=)
c.2260C>T
c.253+823C>T
n.2103C>T
 gnomAD v4
17g.44375010G>CCA500263539ITGA2Bc.2829C>G (p.Pro943=)
c.2260C>G
c.253+823C>G
n.2103C>G
17g.44375010G>TCA500263540ITGA2Bc.2829C>A (p.Pro943=)
c.2260C>A
c.253+823C>A
n.2103C>A
 gnomAD v4
17g.44375011G>ACA399791611ITGA2Bc.2828C>T (p.Pro943Leu)
c.2259C>T
c.253+822C>T
n.2102C>T
 gnomAD v4
17g.44375011G>CCA399791615ITGA2Bc.2828C>G (p.Pro943Arg)
c.2259C>G
c.253+822C>G
n.2102C>G
17g.44375011G>TCA399791618ITGA2Bc.2828C>A (p.Pro943His)
c.2259C>A
c.253+822C>A
n.2102C>A
 gnomAD v4
17g.44375012G>ACA399791621ITGA2Bc.2827C>T (p.Pro943Ser)
c.2258C>T
c.253+821C>T
n.2101C>T
 gnomAD v4
17g.44375012G>CCA399791625ITGA2Bc.2827C>G (p.Pro943Ala)
c.2258C>G
c.253+821C>G
n.2101C>G
 gnomAD v4
17g.44375012G>TCA399791627ITGA2Bc.2827C>A (p.Pro943Thr)
c.2258C>A
c.253+821C>A
n.2101C>A
 gnomAD v4
17g.44375013C>ACA500263550ITGA2Bc.2826G>T (p.Leu942=)
c.2257G>T
c.253+820G>T
n.2100G>T
 gnomAD v4
17g.44375013C=CA2261365536ITGA2Bc.2826G= (p.Leu942=)
c.2257G=
c.253+820G=
n.2100G=
17g.44375013C>GCA500263552ITGA2Bc.2826G>C (p.Leu942=)
c.2257G>C
c.253+820G>C
n.2100G>C
 gnomAD v4
17g.44375013C>TCA500263555ITGA2Bc.2826G>A (p.Leu942=)
c.2257G>A
c.253+820G>A
n.2100G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44375014A>CCA399791638ITGA2Bc.2825T>G (p.Leu942Arg)
c.2256T>G
c.253+819T>G
n.2099T>G
 gnomAD v4
17g.44375014A>GCA399791635ITGA2Bc.2825T>C (p.Leu942Pro)
c.2256T>C
c.253+819T>C
n.2099T>C
 gnomAD v4
17g.44375014A>TCA399791634ITGA2Bc.2825T>A (p.Leu942Gln)
c.2256T>A
c.253+819T>A
n.2099T>A
17g.44375015G>ACA500263575ITGA2Bc.2824C>T (p.Leu942=)
c.2255C>T
c.253+818C>T
n.2098C>T
 gnomAD v4
17g.44375015G>CCA399791641ITGA2Bc.2824C>G (p.Leu942Val)
c.2255C>G
c.253+818C>G
n.2098C>G
17g.44375015G>TCA399791644ITGA2Bc.2824C>A (p.Leu942Met)
c.2255C>A
c.253+818C>A
n.2098C>A
 gnomAD v4
17g.44375016C>ACA399791651ITGA2Bc.2823G>T (p.Trp941Cys)
c.2254G>T
c.253+817G>T
n.2097G>T
17g.44375016C>GCA399791653ITGA2Bc.2823G>C (p.Trp941Cys)
c.2254G>C
c.253+817G>C
n.2097G>C
17g.44375016C>TCA399791655ITGA2Bc.2823G>A (p.Trp941Ter)
c.2254G>A
c.253+817G>A
n.2097G>A
 gnomAD v4
17g.44375017C>ACA399791656ITGA2Bc.2822G>T (p.Trp941Leu)
c.2253G>T
c.253+816G>T
n.2096G>T
 gnomAD v4 COSMIC
17g.44375017C>GCA399791659ITGA2Bc.2822G>C (p.Trp941Ser)
c.2253G>C
c.253+816G>C
n.2096G>C
17g.44375017C>TCA399791662ITGA2Bc.2822G>A (p.Trp941Ter)
c.2253G>A
c.253+816G>A
n.2096G>A
 gnomAD v4
17g.44375018A>CCA399791666ITGA2Bc.2821T>G (p.Trp941Gly)
c.2252T>G
c.253+815T>G
n.2095T>G
17g.44375018A>GCA399791669ITGA2Bc.2821T>C (p.Trp941Arg)
c.2252T>C
c.253+815T>C
n.2095T>C
 gnomAD v4
17g.44375018A>TCA399791671ITGA2Bc.2821T>A (p.Trp941Arg)
c.2252T>A
c.253+815T>A
n.2095T>A
17g.44375019C>ACA500263596ITGA2Bc.2820G>T (p.Leu940=)
c.2251G>T
c.253+814G>T
n.2094G>T
17g.44375019C>GCA500263597ITGA2Bc.2820G>C (p.Leu940=)
c.2251G>C
c.253+814G>C
n.2094G>C
17g.44375019C>TCA500263600ITGA2Bc.2820G>A (p.Leu940=)
c.2251G>A
c.253+814G>A
n.2094G>A
 gnomAD v4
17g.44375020A=CA2261365537ITGA2Bc.2819T= (p.Leu940=)
c.2250T=
c.253+813T=
n.2093T=
17g.44375020A>CCA399791682ITGA2Bc.2819T>G (p.Leu940Arg)
c.2250T>G
c.253+813T>G
n.2093T>G
 ClinVar gnomAD v4
17g.44375020A>GCA399791679ITGA2Bc.2819T>C (p.Leu940Pro)
c.2250T>C
c.253+813T>C
n.2093T>C
 gnomAD v4
17g.44375020A>TCA399791674ITGA2Bc.2819T>A (p.Leu940Gln)
c.2250T>A
c.253+813T>A
n.2093T>A
 dbSNP gnomAD v3 gnomAD v4
17g.44375021G>ACA500263609ITGA2Bc.2818C>T (p.Leu940=)
c.2249C>T
c.253+812C>T
n.2092C>T
 dbSNP gnomAD v2 gnomAD v4
17g.44375021G>CCA399791684ITGA2Bc.2818C>G (p.Leu940Val)
c.2249C>G
c.253+812C>G
n.2092C>G
17g.44375021G=CA2261365538ITGA2Bc.2818C= (p.Leu940=)
c.2249C=
c.253+812C=
n.2092C=
17g.44375021G>TCA399791685ITGA2Bc.2818C>A (p.Leu940Met)
c.2249C>A
c.253+812C>A
n.2092C>A
 gnomAD v4
17g.44375022G>ACA500263613ITGA2Bc.2817C>T (p.Phe939=)
c.2248C>T
c.253+811C>T
n.2091C>T
 ClinVar gnomAD v4
17g.44375022G>CCA399791689ITGA2Bc.2817C>G (p.Phe939Leu)
c.2248C>G
c.253+811C>G
n.2091C>G
17g.44375022G=CA2261365539ITGA2Bc.2817C= (p.Phe939=)
c.2248C=
c.253+811C=
n.2091C=
17g.44375022G>TCA399791693ITGA2Bc.2817C>A (p.Phe939Leu)
c.2248C>A
c.253+811C>A
n.2091C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375023A>CCA399791696ITGA2Bc.2816T>G (p.Phe939Cys)
c.2247T>G
c.253+810T>G
n.2090T>G
17g.44375023A>GCA399791709ITGA2Bc.2816T>C (p.Phe939Ser)
c.2247T>C
c.253+810T>C
n.2090T>C
17g.44375023A>TCA399791712ITGA2Bc.2816T>A (p.Phe939Tyr)
c.2247T>A
c.253+810T>A
n.2090T>A
17g.44375024A>CCA399791716ITGA2Bc.2815T>G (p.Phe939Val)
c.2246T>G
c.253+809T>G
n.2089T>G
17g.44375024A>GCA399791720ITGA2Bc.2815T>C (p.Phe939Leu)
c.2246T>C
c.253+809T>C
n.2089T>C
 gnomAD v4
17g.44375024A>TCA399791722ITGA2Bc.2815T>A (p.Phe939Ile)
c.2246T>A
c.253+809T>A
n.2089T>A
17g.44375025G>ACA290946477ITGA2Bc.2814C>T (p.Ala938=)
c.2245C>T
c.253+808C>T
n.2088C>T
 dbSNP gnomAD v4
17g.44375025G>CCA500263628ITGA2Bc.2814C>G (p.Ala938=)
c.2245C>G
c.253+808C>G
n.2088C>G
17g.44375025G=CA2261365540ITGA2Bc.2814C= (p.Ala938=)
c.2245C=
c.253+808C=
n.2088C=
17g.44375025G>TCA500263629ITGA2Bc.2814C>A (p.Ala938=)
c.2245C>A
c.253+808C>A
n.2088C>A
 gnomAD v4
17g.44375026G>ACA399791727ITGA2Bc.2813C>T (p.Ala938Val)
c.2244C>T
c.253+807C>T
n.2087C>T
 dbSNP gnomAD v2 gnomAD v4
17g.44375026G>CCA399791730ITGA2Bc.2813C>G (p.Ala938Gly)
c.2244C>G
c.253+807C>G
n.2087C>G
 dbSNP
17g.44375026G=CA2261365541ITGA2Bc.2813C= (p.Ala938=)
c.2244C=
c.253+807C=
n.2087C=
17g.44375026G>TCA399791734ITGA2Bc.2813C>A (p.Ala938Asp)
c.2244C>A
c.253+807C>A
n.2087C>A
 gnomAD v4
17g.44375027C>ACA399791743ITGA2Bc.2812G>T (p.Ala938Ser)
c.2243G>T
c.253+806G>T
n.2086G>T
 gnomAD v4
17g.44375027C>GCA399791740ITGA2Bc.2812G>C (p.Ala938Pro)
c.2243G>C
c.253+806G>C
n.2086G>C
17g.44375027C>TCA399791738ITGA2Bc.2812G>A (p.Ala938Thr)
c.2243G>A
c.253+806G>A
n.2086G>A
 gnomAD v4
17g.44375028C>ACA500263639ITGA2Bc.2811G>T (p.Leu937=)
c.2242G>T
c.253+805G>T
n.2085G>T
 dbSNP gnomAD v3 gnomAD v4
17g.44375028C=CA2261365542ITGA2Bc.2811G= (p.Leu937=)
c.2242G=
c.253+805G=
n.2085G=
17g.44375028C>GCA500263642ITGA2Bc.2811G>C (p.Leu937=)
c.2242G>C
c.253+805G>C
n.2085G>C
17g.44375028C>TCA500263644ITGA2Bc.2811G>A (p.Leu937=)
c.2242G>A
c.253+805G>A
n.2085G>A
 gnomAD v4
17g.44375029A>CCA399791749ITGA2Bc.2810T>G (p.Leu937Arg)
c.2241T>G
c.253+804T>G
n.2084T>G
17g.44375029A>GCA399791747ITGA2Bc.2810T>C (p.Leu937Pro)
c.2241T>C
c.253+804T>C
n.2084T>C
 gnomAD v4
17g.44375029A>TCA399791753ITGA2Bc.2810T>A (p.Leu937Gln)
c.2241T>A
c.253+804T>A
n.2084T>A
 gnomAD v4

Number of alleles fetched