Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.44374984_44374998delCA2638215074ITGA2Bc.2841+7_2841+21del
c.2272+7_2272+21del
c.253+842_253+856del
n.2122_2136del
 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.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.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=

Number of alleles fetched