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.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.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>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.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.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

Number of alleles fetched