Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44374704_44374708dupCA915940725ITGA2Bc.2898_2902dup (p.Tyr968SerfsTer?)
c.2329_2333dup
c.253+1129_253+1133dup
n.2409_2413dup
c.2842-234_2842-230dup (n.2842-234_2842-230dup)
 ClinVar dbSNP
17g.44374706G>ACA399790834ITGA2Bc.2896C>T (p.Leu966Phe)
c.2327C>T
c.253+1127C>T
n.2407C>T
c.2842-236C>T (n.2842-236C>T)
 gnomAD v4
17g.44374706G>CCA399790838ITGA2Bc.2896C>G (p.Leu966Val)
c.2327C>G
c.253+1127C>G
n.2407C>G
c.2842-236C>G (n.2842-236C>G)
 gnomAD v4
17g.44374706G>TCA399790842ITGA2Bc.2896C>A (p.Leu966Ile)
c.2327C>A
c.253+1127C>A
n.2407C>A
c.2842-236C>A (n.2842-236C>A)
17g.44374707G>ACA500262617ITGA2Bc.2895C>T (p.Ser965=)
c.2326C>T
c.253+1126C>T
n.2406C>T
c.2842-237C>T (n.2842-237C>T)
17g.44374707G>CCA500262618ITGA2Bc.2895C>G (p.Ser965=)
c.2326C>G
c.253+1126C>G
n.2406C>G
c.2842-237C>G (n.2842-237C>G)
17g.44374707G>TCA500262620ITGA2Bc.2895C>A (p.Ser965=)
c.2326C>A
c.253+1126C>A
n.2406C>A
c.2842-237C>A (n.2842-237C>A)
17g.44374708G>ACA399790844ITGA2Bc.2894C>T (p.Ser965Phe)
c.2325C>T
c.253+1125C>T
n.2405C>T
c.2842-238C>T (n.2842-238C>T)
 gnomAD v4
17g.44374708G>CCA399790846ITGA2Bc.2894C>G (p.Ser965Cys)
c.2325C>G
c.253+1125C>G
n.2405C>G
c.2842-238C>G (n.2842-238C>G)
 ClinVar dbSNP
17g.44374708G=CA2261365375ITGA2Bc.2894C= (p.Ser965=)
c.2325C=
c.253+1125C=
n.2405C=
c.2842-238C= (n.2842-238C=)
17g.44374708G>TCA399790845ITGA2Bc.2894C>A (p.Ser965Tyr)
c.2325C>A
c.253+1125C>A
n.2405C>A
c.2842-238C>A (n.2842-238C>A)
17g.44374709A>CCA399790854ITGA2Bc.2893T>G (p.Ser965Ala)
c.2324T>G
c.253+1124T>G
n.2404T>G
c.2842-239T>G (n.2842-239T>G)
17g.44374709A>GCA399790858ITGA2Bc.2893T>C (p.Ser965Pro)
c.2324T>C
c.253+1124T>C
n.2404T>C
c.2842-239T>C (n.2842-239T>C)
17g.44374709A>TCA399790860ITGA2Bc.2893T>A (p.Ser965Thr)
c.2324T>A
c.253+1124T>A
n.2404T>A
c.2842-239T>A (n.2842-239T>A)
17g.44374710G>ACA500262633ITGA2Bc.2892C>T (p.Ser964=)
c.2323C>T
c.253+1123C>T
n.2403C>T
c.2842-240C>T (n.2842-240C>T)
17g.44374710G>CCA500262635ITGA2Bc.2892C>G (p.Ser964=)
c.2323C>G
c.253+1123C>G
n.2403C>G
c.2842-240C>G (n.2842-240C>G)
17g.44374710G>TCA500262636ITGA2Bc.2892C>A (p.Ser964=)
c.2323C>A
c.253+1123C>A
n.2403C>A
c.2842-240C>A (n.2842-240C>A)
17g.44374711G>ACA399790867ITGA2Bc.2891C>T (p.Ser964Phe)
c.2322C>T
c.253+1122C>T
n.2402C>T
c.2842-241C>T (n.2842-241C>T)
 dbSNP
17g.44374711G>CCA399790868ITGA2Bc.2891C>G (p.Ser964Cys)
c.2322C>G
c.253+1122C>G
n.2402C>G
c.2842-241C>G (n.2842-241C>G)
17g.44374711G>TCA399790869ITGA2Bc.2891C>A (p.Ser964Tyr)
c.2322C>A
c.253+1122C>A
n.2402C>A
c.2842-241C>A (n.2842-241C>A)
17g.44374712A=CA2261365376ITGA2Bc.2890T= (p.Ser964=)
c.2321T=
c.253+1121T=
n.2401T=
c.2842-242T= (n.2842-242T=)
17g.44374712A>CCA399790872ITGA2Bc.2890T>G (p.Ser964Ala)
c.2321T>G
c.253+1121T>G
n.2401T>G
c.2842-242T>G (n.2842-242T>G)
17g.44374712A>GCA399790876ITGA2Bc.2890T>C (p.Ser964Pro)
c.2321T>C
c.253+1121T>C
n.2401T>C
c.2842-242T>C (n.2842-242T>C)
17g.44374712A>TCA8602541ITGA2Bc.2890T>A (p.Ser964Thr)
c.2321T>A
c.253+1121T>A
n.2401T>A
c.2842-242T>A (n.2842-242T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374713C>ACA500262646ITGA2Bc.2889G>T (p.Val963=)
c.2320G>T
c.253+1120G>T
n.2400G>T
c.2842-243G>T (n.2842-243G>T)
17g.44374713C>GCA500262644ITGA2Bc.2889G>C (p.Val963=)
c.2320G>C
c.253+1120G>C
n.2400G>C
c.2842-243G>C (n.2842-243G>C)
17g.44374713C>TCA500262642ITGA2Bc.2889G>A (p.Val963=)
c.2320G>A
c.253+1120G>A
n.2400G>A
c.2842-243G>A (n.2842-243G>A)
17g.44374714A>CCA399790886ITGA2Bc.2888T>G (p.Val963Gly)
c.2319T>G
c.253+1119T>G
n.2399T>G
c.2842-244T>G (n.2842-244T>G)
17g.44374714A>GCA399790890ITGA2Bc.2888T>C (p.Val963Ala)
c.2319T>C
c.253+1119T>C
n.2399T>C
c.2842-244T>C (n.2842-244T>C)
17g.44374714A>TCA399790907ITGA2Bc.2888T>A (p.Val963Glu)
c.2319T>A
c.253+1119T>A
n.2399T>A
c.2842-244T>A (n.2842-244T>A)
17g.44374715C>ACA399790925ITGA2Bc.2887G>T (p.Val963Leu)
c.2318G>T
c.253+1118G>T
n.2398G>T
c.2842-245G>T (n.2842-245G>T)
17g.44374715C=CA2261365377ITGA2Bc.2887G= (p.Val963=)
c.2318G=
c.253+1118G=
n.2398G=
c.2842-245G= (n.2842-245G=)
17g.44374715C>GCA399790917ITGA2Bc.2887G>C (p.Val963Leu)
c.2318G>C
c.253+1118G>C
n.2398G>C
c.2842-245G>C (n.2842-245G>C)
 gnomAD v4
17g.44374715C>TCA399790920ITGA2Bc.2887G>A (p.Val963Met)
c.2318G>A
c.253+1118G>A
n.2398G>A
c.2842-245G>A (n.2842-245G>A)
 dbSNP gnomAD v4
17g.44374716G>ACA500262653ITGA2Bc.2886C>T (p.Asn962=)
c.2317C>T
c.253+1117C>T
n.2397C>T
c.2842-246C>T (n.2842-246C>T)
 gnomAD v4
17g.44374716G>CCA399790929ITGA2Bc.2886C>G (p.Asn962Lys)
c.2317C>G
c.253+1117C>G
n.2397C>G
c.2842-246C>G (n.2842-246C>G)
17g.44374716G>TCA399790930ITGA2Bc.2886C>A (p.Asn962Lys)
c.2317C>A
c.253+1117C>A
n.2397C>A
c.2842-246C>A (n.2842-246C>A)
17g.44374717T>ACA399790933ITGA2Bc.2885A>T (p.Asn962Ile)
c.2316A>T
c.253+1116A>T
n.2396A>T
c.2842-247A>T (n.2842-247A>T)
17g.44374717T>CCA399790936ITGA2Bc.2885A>G (p.Asn962Ser)
c.2316A>G
c.253+1116A>G
n.2396A>G
c.2842-247A>G (n.2842-247A>G)
17g.44374717T>GCA399790941ITGA2Bc.2885A>C (p.Asn962Thr)
c.2316A>C
c.253+1116A>C
n.2396A>C
c.2842-247A>C (n.2842-247A>C)
17g.44374718T>ACA399790945ITGA2Bc.2884A>T (p.Asn962Tyr)
c.2315A>T
c.253+1115A>T
n.2395A>T
c.2842-248A>T (n.2842-248A>T)
17g.44374718T>CCA399790946ITGA2Bc.2884A>G (p.Asn962Asp)
c.2315A>G
c.253+1115A>G
n.2395A>G
c.2842-248A>G (n.2842-248A>G)
17g.44374718T>GCA399790947ITGA2Bc.2884A>C (p.Asn962His)
c.2315A>C
c.253+1115A>C
n.2395A>C
c.2842-248A>C (n.2842-248A>C)
17g.44374718_44374719delinsTGCA2261365378ITGA2Bc.2883_2884delinsCA (p.Phe961=)
c.2314_2315delinsCA
c.253+1114_253+1115delinsCA
n.2394_2395delinsCA
c.2842-249_2842-248delinsCA (n.2842-249_2842-248delinsCA)
17g.44374719delCA915940799ITGA2Bc.2883del (p.Phe961LeufsTer?)
c.2314del
c.253+1114del
n.2394del
c.2842-249del (n.2842-249del)
 ClinVar dbSNP
17g.44374719G>ACA500262660ITGA2Bc.2883C>T (p.Phe961=)
c.2314C>T
c.253+1114C>T
n.2394C>T
c.2842-249C>T (n.2842-249C>T)
 gnomAD v4
17g.44374719G>CCA399790949ITGA2Bc.2883C>G (p.Phe961Leu)
c.2314C>G
c.253+1114C>G
n.2394C>G
c.2842-249C>G (n.2842-249C>G)
17g.44374719G>TCA399790952ITGA2Bc.2883C>A (p.Phe961Leu)
c.2314C>A
c.253+1114C>A
n.2394C>A
c.2842-249C>A (n.2842-249C>A)
17g.44374720A=CA2261365379ITGA2Bc.2882T= (p.Phe961=)
c.2313T=
c.253+1113T=
n.2393T=
c.2842-250T= (n.2842-250T=)
17g.44374720A>CCA8602542ITGA2Bc.2882T>G (p.Phe961Cys)
c.2313T>G
c.253+1113T>G
n.2393T>G
c.2842-250T>G (n.2842-250T>G)
 dbSNP ExAC gnomAD v2
17g.44374720A>GCA399790953ITGA2Bc.2882T>C (p.Phe961Ser)
c.2313T>C
c.253+1113T>C
n.2393T>C
c.2842-250T>C (n.2842-250T>C)
17g.44374720A>TCA399790956ITGA2Bc.2882T>A (p.Phe961Tyr)
c.2313T>A
c.253+1113T>A
n.2393T>A
c.2842-250T>A (n.2842-250T>A)
17g.44374721A>CCA399790962ITGA2Bc.2881T>G (p.Phe961Val)
c.2312T>G
c.253+1112T>G
n.2392T>G
c.2842-251T>G (n.2842-251T>G)
17g.44374721A>GCA399790960ITGA2Bc.2881T>C (p.Phe961Leu)
c.2312T>C
c.253+1112T>C
n.2392T>C
c.2842-251T>C (n.2842-251T>C)
17g.44374721A>TCA399790961ITGA2Bc.2881T>A (p.Phe961Ile)
c.2312T>A
c.253+1112T>A
n.2392T>A
c.2842-251T>A (n.2842-251T>A)
17g.44374722C>ACA399790965ITGA2Bc.2880G>T (p.Trp960Cys)
c.2311G>T
c.253+1111G>T
n.2391G>T
c.2842-252G>T (n.2842-252G>T)
17g.44374722C=CA2261365380ITGA2Bc.2880G= (p.Trp960=)
c.2311G=
c.253+1111G=
n.2391G=
c.2842-252G= (n.2842-252G=)
17g.44374722C>GCA399790966ITGA2Bc.2880G>C (p.Trp960Cys)
c.2311G>C
c.253+1111G>C
n.2391G>C
c.2842-252G>C (n.2842-252G>C)
17g.44374722C>TCA399790971ITGA2Bc.2880G>A (p.Trp960Ter)
c.2311G>A
c.253+1111G>A
n.2391G>A
c.2842-252G>A (n.2842-252G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.44374723C>ACA399790978ITGA2Bc.2879G>T (p.Trp960Leu)
c.2310G>T
c.253+1110G>T
n.2390G>T
c.2842-253G>T (n.2842-253G>T)
17g.44374723C>GCA399790982ITGA2Bc.2879G>C (p.Trp960Ser)
c.2310G>C
c.253+1110G>C
n.2390G>C
c.2842-253G>C (n.2842-253G>C)
17g.44374723C>TCA399790985ITGA2Bc.2879G>A (p.Trp960Ter)
c.2310G>A
c.253+1110G>A
n.2390G>A
c.2842-253G>A (n.2842-253G>A)
17g.44374724A=CA2261365381ITGA2Bc.2878T= (p.Trp960=)
c.2309T=
c.253+1109T=
n.2389T=
c.2842-254T= (n.2842-254T=)
17g.44374724A>CCA399790990ITGA2Bc.2878T>G (p.Trp960Gly)
c.2309T>G
c.253+1109T>G
n.2389T>G
c.2842-254T>G (n.2842-254T>G)
 gnomAD v4
17g.44374724A>GCA399790993ITGA2Bc.2878T>C (p.Trp960Arg)
c.2309T>C
c.253+1109T>C
n.2389T>C
c.2842-254T>C (n.2842-254T>C)
17g.44374724A>TCA399790998ITGA2Bc.2878T>A (p.Trp960Arg)
c.2309T>A
c.253+1109T>A
n.2389T>A
c.2842-254T>A (n.2842-254T>A)
 dbSNP
17g.44374725T>ACA500262675ITGA2Bc.2877A>T (p.Ala959=)
c.2308A>T
c.253+1108A>T
n.2388A>T
c.2842-255A>T (n.2842-255A>T)
 dbSNP
17g.44374725T>CCA500262678ITGA2Bc.2877A>G (p.Ala959=)
c.2308A>G
c.253+1108A>G
n.2388A>G
c.2842-255A>G (n.2842-255A>G)
 gnomAD v4
17g.44374725T>GCA500262679ITGA2Bc.2877A>C (p.Ala959=)
c.2308A>C
c.253+1108A>C
n.2388A>C
c.2842-255A>C (n.2842-255A>C)
17g.44374725T=CA2261365382ITGA2Bc.2877A= (p.Ala959=)
c.2308A=
c.253+1108A=
n.2388A=
c.2842-255A= (n.2842-255A=)
17g.44374729_44374732delCA2576290898ITGA2Bc.2874_2877del (p.Ala959GlyfsTer?)
c.2305_2308del
c.253+1105_253+1108del
n.2385_2388del
c.2842-258_2842-255del (n.2842-258_2842-255del)
 gnomAD v4
17g.44374726G>ACA399791006ITGA2Bc.2876C>T (p.Ala959Val)
c.2307C>T
c.253+1107C>T
n.2387C>T
c.2842-256C>T (n.2842-256C>T)
17g.44374726G>CCA399791013ITGA2Bc.2876C>G (p.Ala959Gly)
c.2307C>G
c.253+1107C>G
n.2387C>G
c.2842-256C>G (n.2842-256C>G)
17g.44374726G>TCA399791020ITGA2Bc.2876C>A (p.Ala959Glu)
c.2307C>A
c.253+1107C>A
n.2387C>A
c.2842-256C>A (n.2842-256C>A)
17g.44374727C>ACA8602543ITGA2Bc.2875G>T (p.Ala959Ser)
c.2306G>T
c.253+1106G>T
n.2386G>T
c.2842-257G>T (n.2842-257G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374727C=CA2261365383ITGA2Bc.2875G= (p.Ala959=)
c.2306G=
c.253+1106G=
n.2386G=
c.2842-257G= (n.2842-257G=)
17g.44374727C>GCA399791040ITGA2Bc.2875G>C (p.Ala959Pro)
c.2306G>C
c.253+1106G>C
n.2386G>C
c.2842-257G>C (n.2842-257G>C)
17g.44374727C>TCA399791037ITGA2Bc.2875G>A (p.Ala959Thr)
c.2306G>A
c.253+1106G>A
n.2386G>A
c.2842-257G>A (n.2842-257G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44374728G>ACA500262687ITGA2Bc.2874C>T (p.His958=)
c.2305C>T
c.253+1105C>T
n.2385C>T
c.2842-258C>T (n.2842-258C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.44374728G>CCA8602544ITGA2Bc.2874C>G (p.His958Gln)
c.2305C>G
c.253+1105C>G
n.2385C>G
c.2842-258C>G (n.2842-258C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374728G=CA2261365384ITGA2Bc.2874C= (p.His958=)
c.2305C=
c.253+1105C=
n.2385C=
c.2842-258C= (n.2842-258C=)
17g.44374728G>TCA399791047ITGA2Bc.2874C>A (p.His958Gln)
c.2305C>A
c.253+1105C>A
n.2385C>A
c.2842-258C>A (n.2842-258C>A)
 dbSNP gnomAD v4
17g.44374729T>ACA8602545ITGA2Bc.2873A>T (p.His958Leu)
c.2304A>T
c.253+1104A>T
n.2384A>T
c.2842-259A>T (n.2842-259A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374729T>CCA399791058ITGA2Bc.2873A>G (p.His958Arg)
c.2304A>G
c.253+1104A>G
n.2384A>G
c.2842-259A>G (n.2842-259A>G)
17g.44374729T>GCA399791064ITGA2Bc.2873A>C (p.His958Pro)
c.2304A>C
c.253+1104A>C
n.2384A>C
c.2842-259A>C (n.2842-259A>C)
17g.44374729T=CA2261365385ITGA2Bc.2873A= (p.His958=)
c.2304A=
c.253+1104A=
n.2384A=
c.2842-259A= (n.2842-259A=)
17g.44374730G>ACA399791068ITGA2Bc.2872C>T (p.His958Tyr)
c.2303C>T
c.253+1103C>T
n.2383C>T
c.2842-260C>T (n.2842-260C>T)
17g.44374730G>CCA399791072ITGA2Bc.2872C>G (p.His958Asp)
c.2303C>G
c.253+1103C>G
n.2383C>G
c.2842-260C>G (n.2842-260C>G)
17g.44374730G>TCA399791078ITGA2Bc.2872C>A (p.His958Asn)
c.2303C>A
c.253+1103C>A
n.2383C>A
c.2842-260C>A (n.2842-260C>A)
 gnomAD v4
17g.44374731C>ACA500262696ITGA2Bc.2871G>T (p.Ser957=)
c.2302G>T
c.253+1102G>T
n.2382G>T
c.2842-261G>T (n.2842-261G>T)
17g.44374731C=CA2261365386ITGA2Bc.2871G= (p.Ser957=)
c.2302G=
c.253+1102G=
n.2382G=
c.2842-261G= (n.2842-261G=)
17g.44374731C>GCA8602547ITGA2Bc.2871G>C (p.Ser957=)
c.2302G>C
c.253+1102G>C
n.2382G>C
c.2842-261G>C (n.2842-261G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374731C>TCA8602546ITGA2Bc.2871G>A (p.Ser957=)
c.2302G>A
c.253+1102G>A
n.2382G>A
c.2842-261G>A (n.2842-261G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374732G>ACA115850ITGA2Bc.2870C>T (p.Ser957Leu)
c.2301C>T
c.253+1101C>T
n.2381C>T
c.2842-262C>T (n.2842-262C>T)
 ClinVar dbSNP gnomAD v4
17g.44374732G>CCA399791096ITGA2Bc.2870C>G (p.Ser957Trp)
c.2301C>G
c.253+1101C>G
n.2381C>G
c.2842-262C>G (n.2842-262C>G)
17g.44374732G=CA2261365387ITGA2Bc.2870C= (p.Ser957=)
c.2301C=
c.253+1101C=
n.2381C=
c.2842-262C= (n.2842-262C=)
17g.44374732G>TCA399791098ITGA2Bc.2870C>A (p.Ser957Ter)
c.2301C>A
c.253+1101C>A
n.2381C>A
c.2842-262C>A (n.2842-262C>A)
17g.44374733A>CCA399791103ITGA2Bc.2869T>G (p.Ser957Ala)
c.2300T>G
c.253+1100T>G
n.2380T>G
c.2842-263T>G (n.2842-263T>G)
17g.44374733A>GCA399791106ITGA2Bc.2869T>C (p.Ser957Pro)
c.2300T>C
c.253+1100T>C
n.2380T>C
c.2842-263T>C (n.2842-263T>C)
17g.44374733A>TCA399791120ITGA2Bc.2869T>A (p.Ser957Thr)
c.2300T>A
c.253+1100T>A
n.2380T>A
c.2842-263T>A (n.2842-263T>A)
17g.44374734C>ACA399791133ITGA2Bc.2868G>T (p.Gln956His)
c.2299G>T
c.253+1099G>T
n.2379G>T
c.2842-264G>T (n.2842-264G>T)
17g.44374734C=CA2261365388ITGA2Bc.2868G= (p.Gln956=)
c.2299G=
c.253+1099G=
n.2379G=
c.2842-264G= (n.2842-264G=)
17g.44374734C>GCA399791132ITGA2Bc.2868G>C (p.Gln956His)
c.2299G>C
c.253+1099G>C
n.2379G>C
c.2842-264G>C (n.2842-264G>C)
 dbSNP
17g.44374734C>TCA500262719ITGA2Bc.2868G>A (p.Gln956=)
c.2299G>A
c.253+1099G>A
n.2379G>A
c.2842-264G>A (n.2842-264G>A)
17g.44374735T>ACA399791136ITGA2Bc.2867A>T (p.Gln956Leu)
c.2298A>T
c.253+1098A>T
n.2378A>T
c.2841+263A>T (n.2841+263A>T)
17g.44374735T>CCA399791140ITGA2Bc.2867A>G (p.Gln956Arg)
c.2298A>G
c.253+1098A>G
n.2378A>G
c.2841+263A>G (n.2841+263A>G)
17g.44374735T>GCA399791148ITGA2Bc.2867A>C (p.Gln956Pro)
c.2298A>C
c.253+1098A>C
n.2378A>C
c.2841+263A>C (n.2841+263A>C)
 gnomAD v4
17g.44374736G>ACA399791156ITGA2Bc.2866C>T (p.Gln956Ter)
c.2297C>T
c.253+1097C>T
n.2377C>T
c.2841+262C>T (n.2841+262C>T)
17g.44374736G>CCA399791160ITGA2Bc.2866C>G (p.Gln956Glu)
c.2297C>G
c.253+1097C>G
n.2377C>G
c.2841+262C>G (n.2841+262C>G)
17g.44374736G>TCA399791162ITGA2Bc.2866C>A (p.Gln956Lys)
c.2297C>A
c.253+1097C>A
n.2377C>A
c.2841+262C>A (n.2841+262C>A)
17g.44374737C>ACA500262754ITGA2Bc.2865G>T (p.Leu955=)
c.2296G>T
c.253+1096G>T
n.2376G>T
c.2841+261G>T (n.2841+261G>T)
17g.44374737C=CA2261365389ITGA2Bc.2865G= (p.Leu955=)
c.2296G=
c.253+1096G=
n.2376G=
c.2841+261G= (n.2841+261G=)
17g.44374737C>GCA8602548ITGA2Bc.2865G>C (p.Leu955=)
c.2296G>C
c.253+1096G>C
n.2376G>C
c.2841+261G>C (n.2841+261G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374737C>TCA500262760ITGA2Bc.2865G>A (p.Leu955=)
c.2296G>A
c.253+1096G>A
n.2376G>A
c.2841+261G>A (n.2841+261G>A)
17g.44374738A=CA2261365390ITGA2Bc.2864T= (p.Leu955=)
c.2295T=
c.253+1095T=
n.2375T=
c.2841+260T= (n.2841+260T=)
17g.44374738A>CCA399791166ITGA2Bc.2864T>G (p.Leu955Arg)
c.2295T>G
c.253+1095T>G
n.2375T>G
c.2841+260T>G (n.2841+260T>G)
17g.44374738A>GCA399791169ITGA2Bc.2864T>C (p.Leu955Pro)
c.2295T>C
c.253+1095T>C
n.2375T>C
c.2841+260T>C (n.2841+260T>C)
17g.44374738A>TCA399791171ITGA2Bc.2864T>A (p.Leu955Gln)
c.2295T>A
c.253+1095T>A
n.2375T>A
c.2841+260T>A (n.2841+260T>A)
 ClinVar dbSNP
17g.44374739G>ACA500262769ITGA2Bc.2863C>T (p.Leu955=)
c.2294C>T
c.253+1094C>T
n.2374C>T
c.2841+259C>T (n.2841+259C>T)
17g.44374739G>CCA399791179ITGA2Bc.2863C>G (p.Leu955Val)
c.2294C>G
c.253+1094C>G
n.2374C>G
c.2841+259C>G (n.2841+259C>G)
17g.44374739G>TCA399791183ITGA2Bc.2863C>A (p.Leu955Met)
c.2294C>A
c.253+1094C>A
n.2374C>A
c.2841+259C>A (n.2841+259C>A)
17g.44374740C>ACA500262774ITGA2Bc.2862G>T (p.Val954=)
c.2293G>T
c.253+1093G>T
n.2373G>T
c.2841+258G>T (n.2841+258G>T)
17g.44374740C=CA2261365391ITGA2Bc.2862G= (p.Val954=)
c.2293G=
c.253+1093G=
n.2373G=
c.2841+258G= (n.2841+258G=)
17g.44374740C>GCA500262775ITGA2Bc.2862G>C (p.Val954=)
c.2293G>C
c.253+1093G>C
n.2373G>C
c.2841+258G>C (n.2841+258G>C)
17g.44374740C>TCA8602549ITGA2Bc.2862G>A (p.Val954=)
c.2293G>A
c.253+1093G>A
n.2373G>A
c.2841+258G>A (n.2841+258G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374741A>CCA399791194ITGA2Bc.2861T>G (p.Val954Gly)
c.2292T>G
c.253+1092T>G
n.2372T>G
c.2841+257T>G (n.2841+257T>G)
17g.44374741A>GCA399791197ITGA2Bc.2861T>C (p.Val954Ala)
c.2292T>C
c.253+1092T>C
n.2372T>C
c.2841+257T>C (n.2841+257T>C)
17g.44374741A>TCA399791195ITGA2Bc.2861T>A (p.Val954Glu)
c.2292T>A
c.253+1092T>A
n.2372T>A
c.2841+257T>A (n.2841+257T>A)
17g.44374742C>ACA399791205ITGA2Bc.2860G>T (p.Val954Leu)
c.2291G>T
c.253+1091G>T
n.2371G>T
c.2841+256G>T (n.2841+256G>T)
17g.44374742C>GCA399791210ITGA2Bc.2860G>C (p.Val954Leu)
c.2291G>C
c.253+1091G>C
n.2371G>C
c.2841+256G>C (n.2841+256G>C)
17g.44374742C>TCA399791213ITGA2Bc.2860G>A (p.Val954Met)
c.2291G>A
c.253+1091G>A
n.2371G>A
c.2841+256G>A (n.2841+256G>A)
 gnomAD v4
17g.44374743A>CCA399791215ITGA2Bc.2859T>G (p.Phe953Leu)
c.2290T>G
c.253+1090T>G
n.2370T>G
c.2841+255T>G (n.2841+255T>G)
17g.44374743A>GCA500262786ITGA2Bc.2859T>C (p.Phe953=)
c.2290T>C
c.253+1090T>C
n.2370T>C
c.2841+255T>C (n.2841+255T>C)
17g.44374743A>TCA399791217ITGA2Bc.2859T>A (p.Phe953Leu)
c.2290T>A
c.253+1090T>A
n.2370T>A
c.2841+255T>A (n.2841+255T>A)
17g.44374744A>CCA399791222ITGA2Bc.2858T>G (p.Phe953Cys)
c.2289T>G
c.253+1089T>G
n.2369T>G
c.2841+254T>G (n.2841+254T>G)
17g.44374744A>GCA399791224ITGA2Bc.2858T>C (p.Phe953Ser)
c.2289T>C
c.253+1089T>C
n.2369T>C
c.2841+254T>C (n.2841+254T>C)
17g.44374744A>TCA399791227ITGA2Bc.2858T>A (p.Phe953Tyr)
c.2289T>A
c.253+1089T>A
n.2369T>A
c.2841+254T>A (n.2841+254T>A)
17g.44374745A>CCA399791231ITGA2Bc.2857T>G (p.Phe953Val)
c.2288T>G
c.253+1088T>G
n.2368T>G
c.2841+253T>G (n.2841+253T>G)
17g.44374745A>GCA399791236ITGA2Bc.2857T>C (p.Phe953Leu)
c.2288T>C
c.253+1088T>C
n.2368T>C
c.2841+253T>C (n.2841+253T>C)
17g.44374745A>TCA399791237ITGA2Bc.2857T>A (p.Phe953Ile)
c.2288T>A
c.253+1088T>A
n.2368T>A
c.2841+253T>A (n.2841+253T>A)
17g.44374746C>ACA399791240ITGA2Bc.2856G>T (p.Gln952His)
c.2287G>T
c.253+1087G>T
n.2367G>T
c.2841+252G>T (n.2841+252G>T)
17g.44374746C>GCA399791241ITGA2Bc.2856G>C (p.Gln952His)
c.2287G>C
c.253+1087G>C
n.2367G>C
c.2841+252G>C (n.2841+252G>C)
 gnomAD v4
17g.44374746C>TCA500262801ITGA2Bc.2856G>A (p.Gln952=)
c.2287G>A
c.253+1087G>A
n.2367G>A
c.2841+252G>A (n.2841+252G>A)
17g.44374747T>ACA399791242ITGA2Bc.2855A>T (p.Gln952Leu)
c.2286A>T
c.253+1086A>T
n.2366A>T
c.2841+251A>T (n.2841+251A>T)
17g.44374747T>CCA399791264ITGA2Bc.2855A>G (p.Gln952Arg)
c.2286A>G
c.253+1086A>G
n.2366A>G
c.2841+251A>G (n.2841+251A>G)
17g.44374747T>GCA399791259ITGA2Bc.2855A>C (p.Gln952Pro)
c.2286A>C
c.253+1086A>C
n.2366A>C
c.2841+251A>C (n.2841+251A>C)
17g.44374748G>ACA399791265ITGA2Bc.2854C>T (p.Gln952Ter)
c.2285C>T
c.253+1085C>T
n.2365C>T
c.2841+250C>T (n.2841+250C>T)
17g.44374748G>CCA399791266ITGA2Bc.2854C>G (p.Gln952Glu)
c.2285C>G
c.253+1085C>G
n.2365C>G
c.2841+250C>G (n.2841+250C>G)
17g.44374748G>TCA399791268ITGA2Bc.2854C>A (p.Gln952Lys)
c.2285C>A
c.253+1085C>A
n.2365C>A
c.2841+250C>A (n.2841+250C>A)
17g.44374748_44374750delinsGATCA2261365392ITGA2Bc.2852_2854delinsATC (p.Asp951=)
c.2283_2285delinsATC
c.253+1083_253+1085delinsATC
n.2363_2365delinsATC
c.2841+248_2841+250delinsATC (n.2841+248_2841+250delinsATC)
17g.44374749delCA2576290899ITGA2Bc.2853del (p.Gln952SerfsTer?)
c.2284del
c.253+1084del
n.2364del
c.2841+249del (n.2841+249del)
17g.44374749A>CCA399791277ITGA2Bc.2853T>G (p.Asp951Glu)
c.2284T>G
c.253+1084T>G
n.2364T>G
c.2841+249T>G (n.2841+249T>G)
17g.44374749A>GCA500262815ITGA2Bc.2853T>C (p.Asp951=)
c.2284T>C
c.253+1084T>C
n.2364T>C
c.2841+249T>C (n.2841+249T>C)
17g.44374749A>TCA399791278ITGA2Bc.2853T>A (p.Asp951Glu)
c.2284T>A
c.253+1084T>A
n.2364T>A
c.2841+249T>A (n.2841+249T>A)
17g.44374749_44374750delCA915940798ITGA2Bc.2852_2853del (p.Asp951AlafsTer?)
c.2283_2284del
c.253+1083_253+1084del
n.2363_2364del
c.2841+248_2841+249del (n.2841+248_2841+249del)
17g.44374749_44374750delinsGCA913187304ITGA2Bc.2852_2853delinsC (p.Asp951AlafsTer?)
c.2283_2284delinsC
c.253+1083_253+1084delinsC
n.2363_2364delinsC
c.2841+248_2841+249delinsC (n.2841+248_2841+249delinsC)
 ClinVar dbSNP
17g.44374750T>ACA399791279ITGA2Bc.2852A>T (p.Asp951Val)
c.2283A>T
c.253+1083A>T
n.2363A>T
c.2841+248A>T (n.2841+248A>T)
17g.44374750T>CCA399791281ITGA2Bc.2852A>G (p.Asp951Gly)
c.2283A>G
c.253+1083A>G
n.2363A>G
c.2841+248A>G (n.2841+248A>G)
17g.44374750T>GCA399791288ITGA2Bc.2852A>C (p.Asp951Ala)
c.2283A>C
c.253+1083A>C
n.2363A>C
c.2841+248A>C (n.2841+248A>C)
17g.44374751C>ACA399791289ITGA2Bc.2851G>T (p.Asp951Tyr)
c.2282G>T
c.253+1082G>T
n.2362G>T
c.2841+247G>T (n.2841+247G>T)
17g.44374751C>GCA399791291ITGA2Bc.2851G>C (p.Asp951His)
c.2282G>C
c.253+1082G>C
n.2362G>C
c.2841+247G>C (n.2841+247G>C)
17g.44374751C>TCA399791294ITGA2Bc.2851G>A (p.Asp951Asn)
c.2282G>A
c.253+1082G>A
n.2362G>A
c.2841+247G>A (n.2841+247G>A)
17g.44374752C>ACA500262837ITGA2Bc.2850G>T (p.Leu950=)
c.2281G>T
c.253+1081G>T
n.2361G>T
c.2841+246G>T (n.2841+246G>T)
17g.44374752C=CA2261365393ITGA2Bc.2850G= (p.Leu950=)
c.2281G=
c.253+1081G=
n.2361G=
c.2841+246G= (n.2841+246G=)
17g.44374752C>GCA500262840ITGA2Bc.2850G>C (p.Leu950=)
c.2281G>C
c.253+1081G>C
n.2361G>C
c.2841+246G>C (n.2841+246G>C)
17g.44374752C>TCA8602550ITGA2Bc.2850G>A (p.Leu950=)
c.2281G>A
c.253+1081G>A
n.2361G>A
c.2841+246G>A (n.2841+246G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374753A>CCA399791299ITGA2Bc.2849T>G (p.Leu950Arg)
c.2280T>G
c.253+1080T>G
n.2360T>G
c.2841+245T>G (n.2841+245T>G)
17g.44374753A>GCA399791297ITGA2Bc.2849T>C (p.Leu950Pro)
c.2280T>C
c.253+1080T>C
n.2360T>C
c.2841+245T>C (n.2841+245T>C)
17g.44374753A>TCA399791302ITGA2Bc.2849T>A (p.Leu950Gln)
c.2280T>A
c.253+1080T>A
n.2360T>A
c.2841+245T>A (n.2841+245T>A)
17g.44374754G>ACA500262854ITGA2Bc.2848C>T (p.Leu950=)
c.2279C>T
c.253+1079C>T
n.2359C>T
c.2841+244C>T (n.2841+244C>T)
17g.44374754G>CCA399791305ITGA2Bc.2848C>G (p.Leu950Val)
c.2279C>G
c.253+1079C>G
n.2359C>G
c.2841+244C>G (n.2841+244C>G)
17g.44374754G>TCA399791306ITGA2Bc.2848C>A (p.Leu950Met)
c.2279C>A
c.253+1079C>A
n.2359C>A
c.2841+244C>A (n.2841+244C>A)
17g.44374755A>CCA500262861ITGA2Bc.2847T>G (p.Pro949=)
c.2278T>G
c.253+1078T>G
n.2358T>G
c.2841+243T>G (n.2841+243T>G)
17g.44374755A>GCA500262862ITGA2Bc.2847T>C (p.Pro949=)
c.2278T>C
c.253+1078T>C
n.2358T>C
c.2841+243T>C (n.2841+243T>C)
17g.44374755A>TCA500262867ITGA2Bc.2847T>A (p.Pro949=)
c.2278T>A
c.253+1078T>A
n.2358T>A
c.2841+243T>A (n.2841+243T>A)
17g.44374756G>ACA399791307ITGA2Bc.2846C>T (p.Pro949Leu)
c.2277C>T
c.253+1077C>T
n.2357C>T
c.2841+242C>T (n.2841+242C>T)
 dbSNP
17g.44374756G>CCA399791310ITGA2Bc.2846C>G (p.Pro949Arg)
c.2277C>G
c.253+1077C>G
n.2357C>G
c.2841+242C>G (n.2841+242C>G)
17g.44374756G=CA2261365394ITGA2Bc.2846C= (p.Pro949=)
c.2277C=
c.253+1077C=
n.2357C=
c.2841+242C= (n.2841+242C=)
17g.44374756G>TCA399791324ITGA2Bc.2846C>A (p.Pro949His)
c.2277C>A
c.253+1077C>A
n.2357C>A
c.2841+242C>A (n.2841+242C>A)
17g.44374757G>ACA290946281ITGA2Bc.2845C>T (p.Pro949Ser)
c.2276C>T
c.253+1076C>T
n.2356C>T
c.2841+241C>T (n.2841+241C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.44374757G>CCA399791327ITGA2Bc.2845C>G (p.Pro949Ala)
c.2276C>G
c.253+1076C>G
n.2356C>G
c.2841+241C>G (n.2841+241C>G)
17g.44374757G=CA2261365395ITGA2Bc.2845C= (p.Pro949=)
c.2276C=
c.253+1076C=
n.2356C=
c.2841+241C= (n.2841+241C=)
17g.44374757G>TCA399791328ITGA2Bc.2845C>A (p.Pro949Thr)
c.2276C>A
c.253+1076C>A
n.2356C>A
c.2841+241C>A (n.2841+241C>A)
17g.44374758C>ACA399791331ITGA2Bc.2844G>T (p.Arg948Ser)
c.2275G>T
c.253+1075G>T
n.2355G>T
c.2841+240G>T (n.2841+240G>T)
 gnomAD v4
17g.44374758C>GCA399791338ITGA2Bc.2844G>C (p.Arg948Ser)
c.2275G>C
c.253+1075G>C
n.2355G>C
c.2841+240G>C (n.2841+240G>C)
17g.44374758C>TCA500262874ITGA2Bc.2844G>A (p.Arg948=)
c.2275G>A
c.253+1075G>A
n.2355G>A
c.2841+240G>A (n.2841+240G>A)
 gnomAD v4
17g.44374759C>ACA399791344ITGA2Bc.2843G>T (p.Arg948Met)
c.2274G>T
c.253+1074G>T
n.2354G>T
c.2841+239G>T (n.2841+239G>T)
17g.44374759C>GCA399791346ITGA2Bc.2843G>C (p.Arg948Thr)
c.2274G>C
c.253+1074G>C
n.2354G>C
c.2841+239G>C (n.2841+239G>C)
17g.44374759C>TCA399791348ITGA2Bc.2843G>A (p.Arg948Lys)
c.2274G>A
c.253+1074G>A
n.2354G>A
c.2841+239G>A (n.2841+239G>A)
 gnomAD v4
17g.44374760delCA915940797ITGA2Bc.2842del (p.Arg948GlyfsTer?)
c.2273del
c.253+1073del
n.2353del
c.2841+238del (n.2841+238del)
17g.44374760T>ACA399791355ITGA2Bc.2842A>T (p.Arg948Trp)
c.2273A>T
c.253+1073A>T
n.2353A>T
c.2841+238A>T (n.2841+238A>T)
17g.44374760T>CCA399791350ITGA2Bc.2842A>G (p.Arg948Gly)
c.2273A>G
c.253+1073A>G
n.2353A>G
c.2841+238A>G (n.2841+238A>G)
 gnomAD v4
17g.44374760T>GCA500262885ITGA2Bc.2842A>C (p.Arg948=)
c.2273A>C
c.253+1073A>C
n.2353A>C
c.2841+238A>C (n.2841+238A>C)
 dbSNP gnomAD v2 gnomAD v4
17g.44374760T=CA2261365396ITGA2Bc.2842A= (p.Arg948=)
c.2273A=
c.253+1073A=
n.2353A=
c.2841+238A= (n.2841+238A=)
17g.44374761C>ACA399791365ITGA2Bc.2842-1G>T (n.2842-1G>T)
c.2273-1G>T
c.253+1072G>T
n.2352G>T
c.2841+237G>T (n.2841+237G>T)
17g.44374761C>GCA399791378ITGA2Bc.2842-1G>C (n.2842-1G>C)
c.2273-1G>C
c.253+1072G>C
n.2352G>C
c.2841+237G>C (n.2841+237G>C)
 ClinVar
17g.44374761C>TCA399791385ITGA2Bc.2842-1G>A (n.2842-1G>A)
c.2273-1G>A
c.253+1072G>A
n.2352G>A
c.2841+237G>A (n.2841+237G>A)
17g.44374762T>ACA399791392ITGA2Bc.2842-2A>T (n.2842-2A>T)
c.2273-2A>T
c.253+1071A>T
n.2351A>T
c.2841+236A>T (n.2841+236A>T)
17g.44374762T>CCA399791399ITGA2Bc.2842-2A>G (n.2842-2A>G)
c.2273-2A>G
c.253+1071A>G
n.2351A>G
c.2841+236A>G (n.2841+236A>G)
17g.44374762T>GCA399791402ITGA2Bc.2842-2A>C (n.2842-2A>C)
c.2273-2A>C
c.253+1071A>C
n.2351A>C
c.2841+236A>C (n.2841+236A>C)
17g.44374764G>CCA2576290900ITGA2Bc.2842-4C>G (n.2842-4C>G)
c.2273-4C>G
c.253+1069C>G
n.2349C>G
c.2841+234C>G (n.2841+234C>G)
17g.44374765_44374766insTCA2576290901ITGA2Bc.2842-6_2842-5insA (n.2842-6_2842-5insA)
c.2273-6_2273-5insA
c.253+1067_253+1068insA
n.2347_2348insA
c.2841+232_2841+233insA (n.2841+232_2841+233insA)
 gnomAD v4
17g.44374767_44374773delinsAGGTTGGCA2261365397ITGA2Bc.2842-13_2842-7delinsCCAACCT (n.2842-13_2842-7delinsCCAACCT)
c.2273-13_2273-7delinsCCAACCT
c.253+1060_253+1066delinsCCAACCT
n.2340_2346delinsCCAACCT
c.2841+225_2841+231delinsCCAACCT (n.2841+225_2841+231delinsCCAACCT)
17g.44374773_44374778delCA290946287ITGA2Bc.2842-13_2842-8del (n.2842-13_2842-8del)
c.2273-13_2273-8del
c.253+1060_253+1065del
n.2340_2345del
c.2841+225_2841+230del (n.2841+225_2841+230del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44374769G>ACA2638214857ITGA2Bc.2842-9C>T (n.2842-9C>T)
c.2273-9C>T
c.253+1064C>T
n.2344C>T
c.2841+229C>T (n.2841+229C>T)
 gnomAD v4
17g.44374769G>TCA2638214858ITGA2Bc.2842-9C>A (n.2842-9C>A)
c.2273-9C>A
c.253+1064C>A
n.2344C>A
c.2841+229C>A (n.2841+229C>A)
 gnomAD v4
17g.44374770T>CCA772285430ITGA2Bc.2842-10A>G (n.2842-10A>G)
c.2273-10A>G
c.253+1063A>G
n.2343A>G
c.2841+228A>G (n.2841+228A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44374770T=CA2261365398ITGA2Bc.2842-10A= (n.2842-10A=)
c.2273-10A=
c.253+1063A=
n.2343A=
c.2841+228A= (n.2841+228A=)
17g.44374771_44374772delinsTGCA2261365399ITGA2Bc.2842-12_2842-11delinsCA (n.2842-12_2842-11delinsCA)
c.2273-12_2273-11delinsCA
c.253+1061_253+1062delinsCA
n.2341_2342delinsCA
c.2841+226_2841+227delinsCA (n.2841+226_2841+227delinsCA)
17g.44374772G>ACA290946297ITGA2Bc.2842-12C>T (n.2842-12C>T)
c.2273-12C>T
c.253+1061C>T
n.2341C>T
c.2841+226C>T (n.2841+226C>T)
 dbSNP
17g.44374772G=CA2261365400ITGA2Bc.2842-12C= (n.2842-12C=)
c.2273-12C=
c.253+1061C=
n.2341C=
c.2841+226C= (n.2841+226C=)
17g.44374775delCA772285431ITGA2Bc.2842-12del (n.2842-12del)
c.2273-12del
c.253+1061del
n.2341del
c.2841+226del (n.2841+226del)
 dbSNP gnomAD v3 gnomAD v4
17g.44374773G>ACA8602551ITGA2Bc.2842-13C>T (n.2842-13C>T)
c.2273-13C>T
c.253+1060C>T
n.2340C>T
c.2841+225C>T (n.2841+225C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374773G=CA2261365401ITGA2Bc.2842-13C= (n.2842-13C=)
c.2273-13C=
c.253+1060C=
n.2340C=
c.2841+225C= (n.2841+225C=)
17g.44374774G>ACA2638214859ITGA2Bc.2842-14C>T (n.2842-14C>T)
c.2273-14C>T
c.253+1059C>T
n.2339C>T
c.2841+224C>T (n.2841+224C>T)
 gnomAD v4
17g.44374775G>ACA2809589770ITGA2Bc.2842-15C>T (n.2842-15C>T)
c.2273-15C>T
c.253+1058C>T
n.2338C>T
c.2841+223C>T (n.2841+223C>T)
17g.44374775G=CA2261365402ITGA2Bc.2842-15C= (n.2842-15C=)
c.2273-15C=
c.253+1058C=
n.2338C=
c.2841+223C= (n.2841+223C=)
17g.44374775G>TCA2261365403ITGA2Bc.2842-15C>A (n.2842-15C>A)
c.2273-15C>A
c.253+1058C>A
n.2338C>A
c.2841+223C>A (n.2841+223C>A)
 dbSNP gnomAD v4
17g.44374776T>ACA2638214860ITGA2Bc.2842-16A>T (n.2842-16A>T)
c.2273-16A>T
c.253+1057A>T
n.2337A>T
c.2841+222A>T (n.2841+222A>T)
 gnomAD v4
17g.44374777T>GCA2638214861ITGA2Bc.2842-17A>C (n.2842-17A>C)
c.2273-17A>C
c.253+1056A>C
n.2336A>C
c.2841+221A>C (n.2841+221A>C)
 gnomAD v4
17g.44374778G>ACA2638214862ITGA2Bc.2842-18C>T (n.2842-18C>T)
c.2273-18C>T
c.253+1055C>T
n.2335C>T
c.2841+220C>T (n.2841+220C>T)
 gnomAD v4
17g.44374778G>TCA2512312673ITGA2Bc.2842-18C>A (n.2842-18C>A)
c.2273-18C>A
c.253+1055C>A
n.2335C>A
c.2841+220C>A (n.2841+220C>A)
 gnomAD v4
17g.44374781A=CA2261365404ITGA2Bc.2842-21T= (n.2842-21T=)
c.2273-21T=
c.253+1052T=
n.2332T=
c.2841+217T= (n.2841+217T=)
17g.44374781A>CCA626224469ITGA2Bc.2842-21T>G (n.2842-21T>G)
c.2273-21T>G
c.253+1052T>G
n.2332T>G
c.2841+217T>G (n.2841+217T>G)
 dbSNP gnomAD v2 gnomAD v4
17g.44374781A>TCA8602552ITGA2Bc.2842-21T>A (n.2842-21T>A)
c.2273-21T>A
c.253+1052T>A
n.2332T>A
c.2841+217T>A (n.2841+217T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374782G>ACA2638214864ITGA2Bc.2842-22C>T (n.2842-22C>T)
c.2273-22C>T
c.253+1051C>T
n.2331C>T
c.2841+216C>T (n.2841+216C>T)
 gnomAD v4
17g.44374782_44374783delCA2638214863ITGA2Bc.2842-23_2842-22del (n.2842-23_2842-22del)
c.2273-23_2273-22del
c.253+1050_253+1051del
n.2330_2331del
c.2841+215_2841+216del (n.2841+215_2841+216del)
 gnomAD v4
17g.44374783C=CA2261365405ITGA2Bc.2842-23G= (n.2842-23G=)
c.2273-23G=
c.253+1050G=
n.2330G=
c.2841+215G= (n.2841+215G=)
17g.44374783C>TCA626224470ITGA2Bc.2842-23G>A (n.2842-23G>A)
c.2273-23G>A
c.253+1050G>A
n.2330G>A
c.2841+215G>A (n.2841+215G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.44374784C>ACA8602553ITGA2Bc.2842-24G>T (n.2842-24G>T)
c.2273-24G>T
c.253+1049G>T
n.2329G>T
c.2841+214G>T (n.2841+214G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374784C=CA2261365406ITGA2Bc.2842-24G= (n.2842-24G=)
c.2273-24G=
c.253+1049G=
n.2329G=
c.2841+214G= (n.2841+214G=)
17g.44374784C>GCA626224471ITGA2Bc.2842-24G>C (n.2842-24G>C)
c.2273-24G>C
c.253+1049G>C
n.2329G>C
c.2841+214G>C (n.2841+214G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44374784C>TCA626224472ITGA2Bc.2842-24G>A (n.2842-24G>A)
c.2273-24G>A
c.253+1049G>A
n.2329G>A
c.2841+214G>A (n.2841+214G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.44374785G>ACA8602554ITGA2Bc.2842-25C>T (n.2842-25C>T)
c.2273-25C>T
c.253+1048C>T
n.2328C>T
c.2841+213C>T (n.2841+213C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374785G=CA2261365407ITGA2Bc.2842-25C= (n.2842-25C=)
c.2273-25C=
c.253+1048C=
n.2328C=
c.2841+213C= (n.2841+213C=)
17g.44374785G>TCA2638214865ITGA2Bc.2842-25C>A (n.2842-25C>A)
c.2273-25C>A
c.253+1048C>A
n.2328C>A
c.2841+213C>A (n.2841+213C>A)
 gnomAD v4
17g.44374785_44374786insGCCA2638214866ITGA2Bc.2842-26_2842-25insGC (n.2842-26_2842-25insGC)
c.2273-26_2273-25insGC
c.253+1047_253+1048insGC
n.2327_2328insGC
c.2841+212_2841+213insGC (n.2841+212_2841+213insGC)
 gnomAD v4
17g.44374786T>GCA8602555ITGA2Bc.2842-26A>C (n.2842-26A>C)
c.2273-26A>C
c.253+1047A>C
n.2327A>C
c.2841+212A>C (n.2841+212A>C)
 dbSNP ExAC
17g.44374786T=CA2261365408ITGA2Bc.2842-26A= (n.2842-26A=)
c.2273-26A=
c.253+1047A=
n.2327A=
c.2841+212A= (n.2841+212A=)
17g.44374788T>CCA8602556ITGA2Bc.2842-28A>G (n.2842-28A>G)
c.2273-28A>G
c.253+1045A>G
n.2325A>G
c.2841+210A>G (n.2841+210A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374788T=CA2261365409ITGA2Bc.2842-28A= (n.2842-28A=)
c.2273-28A=
c.253+1045A=
n.2325A=
c.2841+210A= (n.2841+210A=)
17g.44374789delCA2638214867ITGA2Bc.2842-29del (n.2842-29del)
c.2273-29del
c.253+1044del
n.2324del
c.2841+209del (n.2841+209del)
 gnomAD v4
17g.44374789A=CA2261365410ITGA2Bc.2842-29T= (n.2842-29T=)
c.2273-29T=
c.253+1044T=
n.2324T=
c.2841+209T= (n.2841+209T=)
17g.44374789A>TCA8602557ITGA2Bc.2842-29T>A (n.2842-29T>A)
c.2273-29T>A
c.253+1044T>A
n.2324T>A
c.2841+209T>A (n.2841+209T>A)
 dbSNP ExAC
17g.44374790C>TCA2638214868ITGA2Bc.2842-30G>A (n.2842-30G>A)
c.2273-30G>A
c.253+1043G>A
n.2323G>A
c.2841+208G>A (n.2841+208G>A)
 gnomAD v4
17g.44374792C>ACA2638214869ITGA2Bc.2842-32G>T (n.2842-32G>T)
c.2273-32G>T
c.253+1041G>T
n.2321G>T
c.2841+206G>T (n.2841+206G>T)
 gnomAD v4
17g.44374792C=CA2261365411ITGA2Bc.2842-32G= (n.2842-32G=)
c.2273-32G=
c.253+1041G=
n.2321G=
c.2841+206G= (n.2841+206G=)
17g.44374792C>TCA8602559ITGA2Bc.2842-32G>A (n.2842-32G>A)
c.2273-32G>A
c.253+1041G>A
n.2321G>A
c.2841+206G>A (n.2841+206G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374794delCA2576290902ITGA2Bc.2842-32del (n.2842-32del)
c.2273-32del
c.253+1041del
n.2321del
c.2841+206del (n.2841+206del)
17g.44374793C>ACA626224473ITGA2Bc.2842-33G>T (n.2842-33G>T)
c.2273-33G>T
c.253+1040G>T
n.2320G>T
c.2841+205G>T (n.2841+205G>T)
 dbSNP gnomAD v2
17g.44374793C=CA2261365412ITGA2Bc.2842-33G= (n.2842-33G=)
c.2273-33G=
c.253+1040G=
n.2320G=
c.2841+205G= (n.2841+205G=)
17g.44374793_44374794insATGTTGGCCA8602558ITGA2Bc.2842-33_2842-32insCCAACATG (n.2842-33_2842-32insCCAACATG)
c.2273-33_2273-32insCCAACATG
c.253+1040_253+1041insCCAACATG
n.2320_2321insCCAACATG
c.2841+205_2841+206insCCAACATG (n.2841+205_2841+206insCCAACATG)
 dbSNP ExAC
17g.44374794_44374796delCA2638214870ITGA2Bc.2842-35_2842-33del (n.2842-35_2842-33del)
c.2273-35_2273-33del
c.253+1038_253+1040del
n.2318_2320del
c.2841+203_2841+205del (n.2841+203_2841+205del)
 gnomAD v4
17g.44374795A=CA2261365413ITGA2Bc.2842-35T= (n.2842-35T=)
c.2273-35T=
c.253+1038T=
n.2318T=
c.2841+203T= (n.2841+203T=)
17g.44374795A>CCA2638214871ITGA2Bc.2842-35T>G (n.2842-35T>G)
c.2273-35T>G
c.253+1038T>G
n.2318T>G
c.2841+203T>G (n.2841+203T>G)
 gnomAD v4
17g.44374795_44374796insGGCTGGTCTCGAACTCTTGACCTCA8602560ITGA2Bc.2842-36_2842-35insAGGTCAAGAGTTCGAGACCAGCC (n.2842-36_2842-35insAGGTCAAGAGTTCGAGACCAGCC)
c.2273-36_2273-35insAGGTCAAGAGTTCGAGACCAGCC
c.253+1037_253+1038insAGGTCAAGAGTTCGAGACCAGCC
n.2317_2318insAGGTCAAGAGTTCGAGACCAGCC
c.2841+202_2841+203insAGGTCAAGAGTTCGAGACCAGCC (n.2841+202_2841+203insAGGTCAAGAGTTCGAGACCAGCC)
 dbSNP ExAC
17g.44374796C>ACA2733745603ITGA2Bc.2842-36G>T (n.2842-36G>T)
c.2273-36G>T
c.253+1037G>T
n.2317G>T
c.2841+202G>T (n.2841+202G>T)
 dbSNP
17g.44374796C=CA2261365414ITGA2Bc.2842-36G= (n.2842-36G=)
c.2273-36G=
c.253+1037G=
n.2317G=
c.2841+202G= (n.2841+202G=)
17g.44374797A=CA2261365415ITGA2Bc.2842-37T= (n.2842-37T=)
c.2273-37T=
c.253+1036T=
n.2316T=
c.2841+201T= (n.2841+201T=)
17g.44374797A>GCA772285453ITGA2Bc.2842-37T>C (n.2842-37T>C)
c.2273-37T>C
c.253+1036T>C
n.2316T>C
c.2841+201T>C (n.2841+201T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.44374798dupCA8602562ITGA2Bc.2842-37dup (n.2842-37dup)
c.2273-37dup
c.253+1036dup
n.2316dup
c.2841+201dup (n.2841+201dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374797_44374801dupCA8602561ITGA2Bc.2842-41_2842-37dup (n.2842-41_2842-37dup)
c.2273-41_2273-37dup
c.253+1032_253+1036dup
n.2312_2316dup
c.2841+197_2841+201dup (n.2841+197_2841+201dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374798A=CA2261365416ITGA2Bc.2842-38T= (n.2842-38T=)
c.2273-38T=
c.253+1035T=
n.2315T=
c.2841+200T= (n.2841+200T=)
17g.44374798A>GCA8602563ITGA2Bc.2842-38T>C (n.2842-38T>C)
c.2273-38T>C
c.253+1035T>C
n.2315T>C
c.2841+200T>C (n.2841+200T>C)
 dbSNP ExAC
17g.44374799G>CCA772285458ITGA2Bc.2842-39C>G (n.2842-39C>G)
c.2273-39C>G
c.253+1034C>G
n.2314C>G
c.2841+199C>G (n.2841+199C>G)
 dbSNP
17g.44374799G=CA2261365417ITGA2Bc.2842-39C= (n.2842-39C=)
c.2273-39C=
c.253+1034C=
n.2314C=
c.2841+199C= (n.2841+199C=)
17g.44374801G>ACA8602564ITGA2Bc.2842-41C>T (n.2842-41C>T)
c.2273-41C>T
c.253+1032C>T
n.2312C>T
c.2841+197C>T (n.2841+197C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374801G=CA2261365418ITGA2Bc.2842-41C= (n.2842-41C=)
c.2273-41C=
c.253+1032C=
n.2312C=
c.2841+197C= (n.2841+197C=)
17g.44374801G>TCA2638214872ITGA2Bc.2842-41C>A (n.2842-41C>A)
c.2273-41C>A
c.253+1032C>A
n.2312C>A
c.2841+197C>A (n.2841+197C>A)
 gnomAD v4
17g.44374802G>ACA8602565ITGA2Bc.2842-42C>T (n.2842-42C>T)
c.2273-42C>T
c.253+1031C>T
n.2311C>T
c.2841+196C>T (n.2841+196C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374802G>CCA626224474ITGA2Bc.2842-42C>G (n.2842-42C>G)
c.2273-42C>G
c.253+1031C>G
n.2311C>G
c.2841+196C>G (n.2841+196C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.44374802G=CA2261365419ITGA2Bc.2842-42C= (n.2842-42C=)
c.2273-42C=
c.253+1031C=
n.2311C=
c.2841+196C= (n.2841+196C=)
17g.44374802G>TCA2576290903ITGA2Bc.2842-42C>A (n.2842-42C>A)
c.2273-42C>A
c.253+1031C>A
n.2311C>A
c.2841+196C>A (n.2841+196C>A)
 gnomAD v4
17g.44374803C=CA2261365420ITGA2Bc.2842-43G= (n.2842-43G=)
c.2273-43G=
c.253+1030G=
n.2310G=
c.2841+195G= (n.2841+195G=)
17g.44374803C>TCA626224475ITGA2Bc.2842-43G>A (n.2842-43G>A)
c.2273-43G>A
c.253+1030G>A
n.2310G>A
c.2841+195G>A (n.2841+195G>A)
 dbSNP gnomAD v2
17g.44374804C>ACA2576290904ITGA2Bc.2842-44G>T (n.2842-44G>T)
c.2273-44G>T
c.253+1029G>T
n.2309G>T
c.2841+194G>T (n.2841+194G>T)
17g.44374804C>TCA2638214873ITGA2Bc.2842-44G>A (n.2842-44G>A)
c.2273-44G>A
c.253+1029G>A
n.2309G>A
c.2841+194G>A (n.2841+194G>A)
 gnomAD v4
17g.44374805T>ACA2576290905ITGA2Bc.2842-45A>T (n.2842-45A>T)
c.2273-45A>T
c.253+1028A>T
n.2308A>T
c.2841+193A>T (n.2841+193A>T)
 gnomAD v4
17g.44374805T>CCA2638214874ITGA2Bc.2842-45A>G (n.2842-45A>G)
c.2273-45A>G
c.253+1028A>G
n.2308A>G
c.2841+193A>G (n.2841+193A>G)
 gnomAD v4
17g.44374806A=CA2261365421ITGA2Bc.2842-46T= (n.2842-46T=)
c.2273-46T=
c.253+1027T=
n.2307T=
c.2841+192T= (n.2841+192T=)
17g.44374806A>GCA626224476ITGA2Bc.2842-46T>C (n.2842-46T>C)
c.2273-46T>C
c.253+1027T>C
n.2307T>C
c.2841+192T>C (n.2841+192T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.44374806A>TCA2638214875ITGA2Bc.2842-46T>A (n.2842-46T>A)
c.2273-46T>A
c.253+1027T>A
n.2307T>A
c.2841+192T>A (n.2841+192T>A)
 gnomAD v4

Number of alleles fetched