Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44375081_44375091delinsGCACCACAGTACA2261365576ITGA2Bc.2748_2758delinsTACTGTGGTGC (p.Cys916=)
c.2179_2189delinsTACTGTGGTGC
c.253+742_253+752delinsTACTGTGGTGC
n.2022_2032delinsTACTGTGGTGC
17g.44375084_44375093delCA290946532ITGA2Bc.2748_2757del (p.Thr917SerfsTer?)
c.2179_2188del
c.253+742_253+751del
n.2022_2031del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375084C>ACA399792178ITGA2Bc.2755G>T (p.Val919Leu)
c.2186G>T
c.253+749G>T
n.2029G>T
 gnomAD v4
17g.44375084C>GCA399792180ITGA2Bc.2755G>C (p.Val919Leu)
c.2186G>C
c.253+749G>C
n.2029G>C
 dbSNP gnomAD v3 gnomAD v4
17g.44375084C>TCA399792183ITGA2Bc.2755G>A (p.Val919Met)
c.2186G>A
c.253+749G>A
n.2029G>A
 gnomAD v4
17g.44375085C>ACA290946541ITGA2Bc.2754G>T (p.Val918=)
c.2185G>T
c.253+748G>T
n.2028G>T
 dbSNP gnomAD v3 gnomAD v4
17g.44375085C=CA2261365578ITGA2Bc.2754G= (p.Val918=)
c.2185G=
c.253+748G=
n.2028G=
17g.44375085C>GCA500263882ITGA2Bc.2754G>C (p.Val918=)
c.2185G>C
c.253+748G>C
n.2028G>C
 gnomAD v4
17g.44375085C>TCA290946552ITGA2Bc.2754G>A (p.Val918=)
c.2185G>A
c.253+748G>A
n.2028G>A
 dbSNP gnomAD v4
17g.44375085_44375086insCTCA2638215124ITGA2Bc.2753_2754insAG (p.Val919GlyfsTer?)
c.2184_2185insAG
c.253+747_253+748insAG
n.2027_2028insAG
 gnomAD v4
17g.44375086A>CCA399792187ITGA2Bc.2753T>G (p.Val918Gly)
c.2184T>G
c.253+747T>G
n.2027T>G
17g.44375086A>GCA399792190ITGA2Bc.2753T>C (p.Val918Ala)
c.2184T>C
c.253+747T>C
n.2027T>C
 gnomAD v4
17g.44375086A>TCA399792191ITGA2Bc.2753T>A (p.Val918Glu)
c.2184T>A
c.253+747T>A
n.2027T>A
17g.44375090_44375094dupCA2638215123ITGA2Bc.2749_2753dup (p.Val919LeufsTer?)
c.2180_2184dup
c.253+743_253+747dup
n.2023_2027dup
 gnomAD v4
17g.44375087delCA2638215125ITGA2Bc.2752del (p.Val918TrpfsTer?)
c.2183del
c.253+746del
n.2026del
 gnomAD v4
17g.44375087C>ACA399792192ITGA2Bc.2752G>T (p.Val918Leu)
c.2183G>T
c.253+746G>T
n.2026G>T
 gnomAD v4
17g.44375087C=CA2261365579ITGA2Bc.2752G= (p.Val918=)
c.2183G=
c.253+746G=
n.2026G=
17g.44375087C>GCA399792194ITGA2Bc.2752G>C (p.Val918Leu)
c.2183G>C
c.253+746G>C
n.2026G>C
17g.44375087C>TCA399792197ITGA2Bc.2752G>A (p.Val918Met)
c.2183G>A
c.253+746G>A
n.2026G>A
 dbSNP
17g.44375088A=CA2261365580ITGA2Bc.2751T= (p.Thr917=)
c.2182T=
c.253+745T=
n.2025T=
17g.44375088A>CCA500263901ITGA2Bc.2751T>G (p.Thr917=)
c.2182T>G
c.253+745T>G
n.2025T>G
 dbSNP gnomAD v2 gnomAD v4
17g.44375088A>GCA500263904ITGA2Bc.2751T>C (p.Thr917=)
c.2182T>C
c.253+745T>C
n.2025T>C
 gnomAD v4
17g.44375088A>TCA500263906ITGA2Bc.2751T>A (p.Thr917=)
c.2182T>A
c.253+745T>A
n.2025T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375089G>ACA399792202ITGA2Bc.2750C>T (p.Thr917Ile)
c.2181C>T
c.253+744C>T
n.2024C>T
 gnomAD v4
17g.44375089G>CCA399792205ITGA2Bc.2750C>G (p.Thr917Ser)
c.2181C>G
c.253+744C>G
n.2024C>G
 ClinVar dbSNP
17g.44375089G=CA2261365581ITGA2Bc.2750C= (p.Thr917=)
c.2181C=
c.253+744C=
n.2024C=
17g.44375089G>TCA399792208ITGA2Bc.2750C>A (p.Thr917Asn)
c.2181C>A
c.253+744C>A
n.2024C>A
 gnomAD v4
17g.44375090T>ACA399792224ITGA2Bc.2749A>T (p.Thr917Ser)
c.2180A>T
c.253+743A>T
n.2023A>T
17g.44375090T>CCA399792219ITGA2Bc.2749A>G (p.Thr917Ala)
c.2180A>G
c.253+743A>G
n.2023A>G
 gnomAD v4
17g.44375090T>GCA399792221ITGA2Bc.2749A>C (p.Thr917Pro)
c.2180A>C
c.253+743A>C
n.2023A>C
17g.44375091A=CA2261365582ITGA2Bc.2748T= (p.Cys916=)
c.2179T=
c.253+742T=
n.2022T=
17g.44375091A>CCA399792227ITGA2Bc.2748T>G (p.Cys916Trp)
c.2179T>G
c.253+742T>G
n.2022T>G
17g.44375091A>GCA500263916ITGA2Bc.2748T>C (p.Cys916=)
c.2179T>C
c.253+742T>C
n.2022T>C
 dbSNP gnomAD v3 gnomAD v4
17g.44375091A>TCA399792230ITGA2Bc.2748T>A (p.Cys916Ter)
c.2179T>A
c.253+742T>A
n.2022T>A
17g.44375092C>ACA399792243ITGA2Bc.2747G>T (p.Cys916Phe)
c.2178G>T
c.253+741G>T
n.2021G>T
 gnomAD v4
17g.44375092C=CA2261365583ITGA2Bc.2747G= (p.Cys916=)
c.2178G=
c.253+741G=
n.2021G=
17g.44375092C>GCA399792245ITGA2Bc.2747G>C (p.Cys916Ser)
c.2178G>C
c.253+741G>C
n.2021G>C
17g.44375092C>TCA399792248ITGA2Bc.2747G>A (p.Cys916Tyr)
c.2178G>A
c.253+741G>A
n.2021G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375093A=CA2261365584ITGA2Bc.2746T= (p.Cys916=)
c.2177T=
c.253+740T=
n.2020T=
17g.44375093A>CCA399792257ITGA2Bc.2746T>G (p.Cys916Gly)
c.2177T>G
c.253+740T>G
n.2020T>G
17g.44375093A>GCA399792258ITGA2Bc.2746T>C (p.Cys916Arg)
c.2177T>C
c.253+740T>C
n.2020T>C
 dbSNP gnomAD v2 gnomAD v4
17g.44375093A>TCA399792260ITGA2Bc.2746T>A (p.Cys916Ser)
c.2177T>A
c.253+740T>A
n.2020T>A
 gnomAD v4
17g.44375094G>ACA500263926ITGA2Bc.2745C>T (p.Pro915=)
c.2176C>T
c.253+739C>T
n.2019C>T
 dbSNP
17g.44375094G>CCA500263927ITGA2Bc.2745C>G (p.Pro915=)
c.2176C>G
c.253+739C>G
n.2019C>G
17g.44375094G=CA2261365585ITGA2Bc.2745C= (p.Pro915=)
c.2176C=
c.253+739C=
n.2019C=
17g.44375094G>TCA500263929ITGA2Bc.2745C>A (p.Pro915=)
c.2176C>A
c.253+739C>A
n.2019C>A
 gnomAD v4
17g.44375095G>ACA399792263ITGA2Bc.2744C>T (p.Pro915Leu)
c.2175C>T
c.253+738C>T
n.2018C>T
 dbSNP gnomAD v2 gnomAD v4
17g.44375095G>CCA399792266ITGA2Bc.2744C>G (p.Pro915Arg)
c.2175C>G
c.253+738C>G
n.2018C>G
 gnomAD v4
17g.44375095G=CA2261365586ITGA2Bc.2744C= (p.Pro915=)
c.2175C=
c.253+738C=
n.2018C=
17g.44375095G>TCA399792268ITGA2Bc.2744C>A (p.Pro915His)
c.2175C>A
c.253+738C>A
n.2018C>A
 gnomAD v4

Number of alleles fetched