Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44372338C=CA2261364332ITGA2Bc.*26G= (n.*26G=)
c.2460G=
c.339G=
c.123G=
17g.44372338C>GCA290942711ITGA2Bc.*26G>C (n.*26G>C)
c.2460G>C
c.339G>C
c.123G>C
 dbSNP
17g.44372338C>TCA2261364333ITGA2Bc.*26G>A (n.*26G>A)
c.2460G>A
c.339G>A
c.123G>A
 dbSNP
17g.44372339T=CA2261364334ITGA2Bc.*25A= (n.*25A=)
c.2459A=
c.338A=
c.122A=
17g.44372340dupCA772284485ITGA2Bc.*24dup (n.*24dup)
c.2458dup
c.337dup
c.121dup
 dbSNP gnomAD v3 gnomAD v4
17g.44372343A=CA2261364335ITGA2Bc.*21T= (n.*21T=)
c.2455T=
c.334T=
c.118T=
17g.44372343A>GCA983994058ITGA2Bc.*21T>C (n.*21T>C)
c.2455T>C
c.334T>C
c.118T>C
 dbSNP gnomAD v3 gnomAD v4
17g.44372346A=CA2261364336ITGA2Bc.*18T= (n.*18T=)
c.2452T=
c.331T=
c.115T=
17g.44372346A>GCA8602449ITGA2Bc.*18T>C (n.*18T>C)
c.2452T>C
c.331T>C
c.115T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44372347T>GCA2547600405ITGA2Bc.*17A>C (n.*17A>C)
c.2451A>C
c.330A>C
c.114A>C
 gnomAD v4
17g.44372349G>ACA2638213447ITGA2Bc.*15C>T (n.*15C>T)
c.2449C>T
c.328C>T
c.112C>T
 gnomAD v4
17g.44372349G>CCA772284489ITGA2Bc.*15C>G (n.*15C>G)
c.2449C>G
c.328C>G
c.112C>G
 dbSNP
17g.44372349G=CA2261364337ITGA2Bc.*15C= (n.*15C=)
c.2449C=
c.328C=
c.112C=
17g.44372350T>CCA8602450ITGA2Bc.*14A>G (n.*14A>G)
c.2448A>G
c.327A>G
c.111A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44372350T=CA2261364338ITGA2Bc.*14A= (n.*14A=)
c.2448A=
c.327A=
c.111A=
17g.44372351G>ACA626118978ITGA2Bc.*13C>T (n.*13C>T)
c.2447C>T
c.326C>T
c.110C>T
 dbSNP gnomAD v2 gnomAD v4
17g.44372351G=CA2261364339ITGA2Bc.*13C= (n.*13C=)
c.2447C=
c.326C=
c.110C=
17g.44372352T>CCA2576290830ITGA2Bc.*12A>G (n.*12A>G)
c.2446A>G
c.325A>G
c.109A>G
17g.44372355G>ACA772284497ITGA2Bc.*9C>T (n.*9C>T)
c.2443C>T
c.322C>T
c.106C>T
 dbSNP gnomAD v4
17g.44372355G=CA2261364340ITGA2Bc.*9C= (n.*9C=)
c.2443C=
c.322C=
c.106C=
17g.44372356C>TCA2638213451ITGA2Bc.*8G>A (n.*8G>A)
c.2442G>A
c.321G>A
c.105G>A
 gnomAD v4
17g.44372359C=CA2261364341ITGA2Bc.*5G= (n.*5G=)
c.2439G=
c.318G=
c.102G=
17g.44372359C>TCA2261364342ITGA2Bc.*5G>A (n.*5G>A)
c.2439G>A
c.318G>A
c.102G>A
 dbSNP
17g.44372360A>GCA2638213452ITGA2Bc.*4T>C (n.*4T>C)
c.2438T>C
c.317T>C
c.101T>C
 gnomAD v4
17g.44372362C=CA2261364343ITGA2Bc.*2G= (n.*2G=)
c.2436G=
c.315G=
c.99G=
17g.44372362C>TCA2261364344ITGA2Bc.*2G>A (n.*2G>A)
c.2436G>A
c.315G>A
c.99G>A
 dbSNP
17g.44372363A>GCA2638213453ITGA2Bc.*1T>C (n.*1T>C)
c.2435T>C
c.314T>C
c.98T>C
 gnomAD v4
17g.44372364T>ACA399787559ITGA2Bc.3120A>T (p.Ter1040Cys)
c.2434A>T
c.313A>T
c.97A>T
c.3018A>T (p.Ter1006Cys)
c.3003A>T (p.Ter1001Cys)
17g.44372364T>CCA399787561ITGA2Bc.3120A>G (p.Ter1040Trp)
c.2434A>G
c.313A>G
c.97A>G
c.3018A>G (p.Ter1006Trp)
c.3003A>G (p.Ter1001Trp)
17g.44372364T>GCA399787564ITGA2Bc.3120A>C (p.Ter1040Cys)
c.2434A>C
c.313A>C
c.97A>C
c.3018A>C (p.Ter1006Cys)
c.3003A>C (p.Ter1001Cys)
17g.44372364T=CA2261364345ITGA2Bc.3120A= (p.Ter1040=)
c.2434A=
c.313A=
c.97A=
c.3018A= (p.Ter1006=)
c.3003A= (p.Ter1001=)
17g.44372365C>ACA399787566ITGA2Bc.3119G>T (p.Ter1040Leu)
c.2433G>T
c.312G>T
c.96G>T
c.3017G>T (p.Ter1006Leu)
c.3002G>T (p.Ter1001Leu)
17g.44372365C>GCA399787569ITGA2Bc.3119G>C (p.Ter1040Ser)
c.2433G>C
c.312G>C
c.96G>C
c.3017G>C (p.Ter1006Ser)
c.3002G>C (p.Ter1001Ser)
17g.44372365C>TCA500260508ITGA2Bc.3119G>A (p.Ter1040=)
c.2433G>A
c.312G>A
c.96G>A
c.3017G>A (p.Ter1006=)
c.3002G>A (p.Ter1001=)
17g.44372366_44372370dupCA915940262ITGA2Bc.3115_3119dup (p.Ter1040TrpextTer?)
c.2429_2433dup
c.308_312dup
c.92_96dup
c.3013_3017dup (p.Ter1006TrpextTer?)
c.2998_3002dup (p.Ter1001TrpextTer?)
 ClinVar dbSNP
17g.44372366A=CA2261364346ITGA2Bc.3118T= (p.Ter1040=)
c.2432T=
c.311T=
c.95T=
c.3016T= (p.Ter1006=)
c.3001T= (p.Ter1001=)
17g.44372366A>CCA399787576ITGA2Bc.3118T>G (p.Ter1040Gly)
c.2432T>G
c.311T>G
c.95T>G
c.3016T>G (p.Ter1006Gly)
c.3001T>G (p.Ter1001Gly)
 dbSNP
17g.44372366A>GCA399787574ITGA2Bc.3118T>C (p.Ter1040Arg)
c.2432T>C
c.311T>C
c.95T>C
c.3016T>C (p.Ter1006Arg)
c.3001T>C (p.Ter1001Arg)
 gnomAD v4
17g.44372366A>TCA399787572ITGA2Bc.3118T>A (p.Ter1040Arg)
c.2432T>A
c.311T>A
c.95T>A
c.3016T>A (p.Ter1006Arg)
c.3001T>A (p.Ter1001Arg)
17g.44372367C>ACA399787582ITGA2Bc.3117G>T (p.Glu1039Asp)
c.2431G>T
c.310G>T
c.94G>T
c.3015G>T (p.Glu1005Asp)
c.3000G>T (p.Glu1000Asp)
17g.44372367C=CA2261364347ITGA2Bc.3117G= (p.Glu1039=)
c.2431G=
c.310G=
c.94G=
c.3015G= (p.Glu1005=)
c.3000G= (p.Glu1000=)
17g.44372367C>GCA399787579ITGA2Bc.3117G>C (p.Glu1039Asp)
c.2431G>C
c.310G>C
c.94G>C
c.3015G>C (p.Glu1005Asp)
c.3000G>C (p.Glu1000Asp)
17g.44372367C>TCA500260512ITGA2Bc.3117G>A (p.Glu1039=)
c.2431G>A
c.310G>A
c.94G>A
c.3015G>A (p.Glu1005=)
c.3000G>A (p.Glu1000=)
 dbSNP gnomAD v2 gnomAD v4
17g.44372368T>ACA399787588ITGA2Bc.3116A>T (p.Glu1039Val)
c.2430A>T
c.309A>T
c.93A>T
c.3014A>T (p.Glu1005Val)
c.2999A>T (p.Glu1000Val)
17g.44372368T>CCA399787591ITGA2Bc.3116A>G (p.Glu1039Gly)
c.2430A>G
c.309A>G
c.93A>G
c.3014A>G (p.Glu1005Gly)
c.2999A>G (p.Glu1000Gly)
17g.44372368T>GCA399787594ITGA2Bc.3116A>C (p.Glu1039Ala)
c.2430A>C
c.309A>C
c.93A>C
c.3014A>C (p.Glu1005Ala)
c.2999A>C (p.Glu1000Ala)
17g.44372369C>ACA399787596ITGA2Bc.3115G>T (p.Glu1039Ter)
c.2429G>T
c.308G>T
c.92G>T
c.3013G>T (p.Glu1005Ter)
c.2998G>T (p.Glu1000Ter)
17g.44372369C>GCA399787598ITGA2Bc.3115G>C (p.Glu1039Gln)
c.2429G>C
c.308G>C
c.92G>C
c.3013G>C (p.Glu1005Gln)
c.2998G>C (p.Glu1000Gln)
17g.44372369C>TCA399787601ITGA2Bc.3115G>A (p.Glu1039Lys)
c.2429G>A
c.308G>A
c.92G>A
c.3013G>A (p.Glu1005Lys)
c.2998G>A (p.Glu1000Lys)
 COSMIC
17g.44372370C>ACA500260520ITGA2Bc.3114G>T (p.Gly1038=)
c.2428G>T
c.307G>T
c.91G>T
c.3012G>T (p.Gly1004=)
c.2997G>T (p.Gly999=)
17g.44372370C>GCA500260534ITGA2Bc.3114G>C (p.Gly1038=)
c.2428G>C
c.307G>C
c.91G>C
c.3012G>C (p.Gly1004=)
c.2997G>C (p.Gly999=)
 gnomAD v4
17g.44372370C>TCA500260536ITGA2Bc.3114G>A (p.Gly1038=)
c.2428G>A
c.307G>A
c.91G>A
c.3012G>A (p.Gly1004=)
c.2997G>A (p.Gly999=)
 dbSNP
17g.44372371C>ACA399787616ITGA2Bc.3113G>T (p.Gly1038Val)
c.2427G>T
c.306G>T
c.90G>T
c.3011G>T (p.Gly1004Val)
c.2996G>T (p.Gly999Val)
17g.44372371C>GCA399787619ITGA2Bc.3113G>C (p.Gly1038Ala)
c.2427G>C
c.306G>C
c.90G>C
c.3011G>C (p.Gly1004Ala)
c.2996G>C (p.Gly999Ala)
17g.44372371C>TCA399787622ITGA2Bc.3113G>A (p.Gly1038Glu)
c.2427G>A
c.306G>A
c.90G>A
c.3011G>A (p.Gly1004Glu)
c.2996G>A (p.Gly999Glu)
 gnomAD v4
17g.44372372C>ACA399787627ITGA2Bc.3112G>T (p.Gly1038Trp)
c.2426G>T
c.305G>T
c.89G>T
c.3010G>T (p.Gly1004Trp)
c.2995G>T (p.Gly999Trp)
17g.44372372C=CA2261364348ITGA2Bc.3112G= (p.Gly1038=)
c.2426G=
c.305G=
c.89G=
c.3010G= (p.Gly1004=)
c.2995G= (p.Gly999=)
17g.44372372C>GCA399787629ITGA2Bc.3112G>C (p.Gly1038Arg)
c.2426G>C
c.305G>C
c.89G>C
c.3010G>C (p.Gly1004Arg)
c.2995G>C (p.Gly999Arg)
 gnomAD v4
17g.44372372C>TCA399787630ITGA2Bc.3112G>A (p.Gly1038Arg)
c.2426G>A
c.305G>A
c.89G>A
c.3010G>A (p.Gly1004Arg)
c.2995G>A (p.Gly999Arg)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.44372373C>ACA8602452ITGA2Bc.3111G>T (p.Glu1037Asp)
c.2425G>T
c.304G>T
c.88G>T
c.3009G>T (p.Glu1003Asp)
c.2994G>T (p.Glu998Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44372373C=CA2261364349ITGA2Bc.3111G= (p.Glu1037=)
c.2425G=
c.304G=
c.88G=
c.3009G= (p.Glu1003=)
c.2994G= (p.Glu998=)
17g.44372373C>GCA290942765ITGA2Bc.3111G>C (p.Glu1037Asp)
c.2425G>C
c.304G>C
c.88G>C
c.3009G>C (p.Glu1003Asp)
c.2994G>C (p.Glu998Asp)
 dbSNP gnomAD v4
17g.44372373C>TCA500260554ITGA2Bc.3111G>A (p.Glu1037=)
c.2425G>A
c.304G>A
c.88G>A
c.3009G>A (p.Glu1003=)
c.2994G>A (p.Glu998=)
17g.44372373_44372376delinsCTCTCA2261364350ITGA2Bc.3108_3111delinsAGAG (p.Glu1036=)
c.2422_2425delinsAGAG
c.301_304delinsAGAG
c.85_88delinsAGAG
c.3006_3009delinsAGAG (p.Glu1002=)
c.2991_2994delinsAGAG (p.Glu997=)
17g.44372374T>ACA399787635ITGA2Bc.3110A>T (p.Glu1037Val)
c.2424A>T
c.303A>T
c.87A>T
c.3008A>T (p.Glu1003Val)
c.2993A>T (p.Glu998Val)
 dbSNP gnomAD v2 gnomAD v4
17g.44372374T>CCA8602453ITGA2Bc.3110A>G (p.Glu1037Gly)
c.2424A>G
c.303A>G
c.87A>G
c.3008A>G (p.Glu1003Gly)
c.2993A>G (p.Glu998Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372374T>GCA399787640ITGA2Bc.3110A>C (p.Glu1037Ala)
c.2424A>C
c.303A>C
c.87A>C
c.3008A>C (p.Glu1003Ala)
c.2993A>C (p.Glu998Ala)
17g.44372374T=CA2261364351ITGA2Bc.3110A= (p.Glu1037=)
c.2424A=
c.303A=
c.87A=
c.3008A= (p.Glu1003=)
c.2993A= (p.Glu998=)
17g.44372376_44372378delCA8602451ITGA2Bc.3108_3110del (p.Glu1037del)
c.2422_2424del
c.301_303del
c.85_87del
c.3006_3008del (p.Glu1003del)
c.2991_2993del (p.Glu998del)
 dbSNP ExAC
17g.44372375C>ACA399787646ITGA2Bc.3109G>T (p.Glu1037Ter)
c.2423G>T
c.302G>T
c.86G>T
c.3007G>T (p.Glu1003Ter)
c.2992G>T (p.Glu998Ter)
17g.44372375C>GCA399787650ITGA2Bc.3109G>C (p.Glu1037Gln)
c.2423G>C
c.302G>C
c.86G>C
c.3007G>C (p.Glu1003Gln)
c.2992G>C (p.Glu998Gln)
17g.44372375C>TCA399787651ITGA2Bc.3109G>A (p.Glu1037Lys)
c.2423G>A
c.302G>A
c.86G>A
c.3007G>A (p.Glu1003Lys)
c.2992G>A (p.Glu998Lys)
 COSMIC
17g.44372376T>ACA399787654ITGA2Bc.3108A>T (p.Glu1036Asp)
c.2422A>T
c.301A>T
c.85A>T
c.3006A>T (p.Glu1002Asp)
c.2991A>T (p.Glu997Asp)
17g.44372376T>CCA500260566ITGA2Bc.3108A>G (p.Glu1036=)
c.2422A>G
c.301A>G
c.85A>G
c.3006A>G (p.Glu1002=)
c.2991A>G (p.Glu997=)
17g.44372376T>GCA399787656ITGA2Bc.3108A>C (p.Glu1036Asp)
c.2422A>C
c.301A>C
c.85A>C
c.3006A>C (p.Glu1002Asp)
c.2991A>C (p.Glu997Asp)
17g.44372376_44372379delinsTTCACA2261364352ITGA2Bc.3105_3108delinsTGAA (p.Asp1035=)
c.2419_2422delinsTGAA
c.298_301delinsTGAA
c.82_85delinsTGAA
c.3003_3006delinsTGAA (p.Asp1001=)
c.2988_2991delinsTGAA (p.Asp996=)
17g.44372377T>ACA399787661ITGA2Bc.3107A>T (p.Glu1036Val)
c.2421A>T
c.300A>T
c.84A>T
c.3005A>T (p.Glu1002Val)
c.2990A>T (p.Glu997Val)
17g.44372377T>CCA399787663ITGA2Bc.3107A>G (p.Glu1036Gly)
c.2421A>G
c.300A>G
c.84A>G
c.3005A>G (p.Glu1002Gly)
c.2990A>G (p.Glu997Gly)
17g.44372377T>GCA399787664ITGA2Bc.3107A>C (p.Glu1036Ala)
c.2421A>C
c.300A>C
c.84A>C
c.3005A>C (p.Glu1002Ala)
c.2990A>C (p.Glu997Ala)
17g.44372382_44372384delCA8602454ITGA2Bc.3105_3107del (p.Asp1035del)
c.2419_2421del
c.298_300del
c.82_84del
c.3003_3005del (p.Asp1001del)
c.2988_2990del (p.Asp996del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372378C>ACA399787669ITGA2Bc.3106G>T (p.Glu1036Ter)
c.2420G>T
c.299G>T
c.83G>T
c.3004G>T (p.Glu1002Ter)
c.2989G>T (p.Glu997Ter)
17g.44372378C>GCA399787670ITGA2Bc.3106G>C (p.Glu1036Gln)
c.2420G>C
c.299G>C
c.83G>C
c.3004G>C (p.Glu1002Gln)
c.2989G>C (p.Glu997Gln)
17g.44372378C>TCA399787668ITGA2Bc.3106G>A (p.Glu1036Lys)
c.2420G>A
c.299G>A
c.83G>A
c.3004G>A (p.Glu1002Lys)
c.2989G>A (p.Glu997Lys)
 gnomAD v4
17g.44372379A=CA2261364353ITGA2Bc.3105T= (p.Asp1035=)
c.2419T=
c.298T=
c.82T=
c.3003T= (p.Asp1001=)
c.2988T= (p.Asp996=)
17g.44372379A>CCA399787672ITGA2Bc.3105T>G (p.Asp1035Glu)
c.2419T>G
c.298T>G
c.82T>G
c.3003T>G (p.Asp1001Glu)
c.2988T>G (p.Asp996Glu)
17g.44372379A>GCA500260588ITGA2Bc.3105T>C (p.Asp1035=)
c.2419T>C
c.298T>C
c.82T>C
c.3003T>C (p.Asp1001=)
c.2988T>C (p.Asp996=)
17g.44372379A>TCA399787674ITGA2Bc.3105T>A (p.Asp1035Glu)
c.2419T>A
c.298T>A
c.82T>A
c.3003T>A (p.Asp1001Glu)
c.2988T>A (p.Asp996Glu)
 dbSNP gnomAD v4
17g.44372380T>ACA399787678ITGA2Bc.3104A>T (p.Asp1035Val)
c.2418A>T
c.297A>T
c.81A>T
c.3002A>T (p.Asp1001Val)
c.2987A>T (p.Asp996Val)
17g.44372380T>CCA399787681ITGA2Bc.3104A>G (p.Asp1035Gly)
c.2418A>G
c.297A>G
c.81A>G
c.3002A>G (p.Asp1001Gly)
c.2987A>G (p.Asp996Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.44372380T>GCA399787684ITGA2Bc.3104A>C (p.Asp1035Ala)
c.2418A>C
c.297A>C
c.81A>C
c.3002A>C (p.Asp1001Ala)
c.2987A>C (p.Asp996Ala)
17g.44372380T=CA2261364354ITGA2Bc.3104A= (p.Asp1035=)
c.2418A=
c.297A=
c.81A=
c.3002A= (p.Asp1001=)
c.2987A= (p.Asp996=)
17g.44372381C>ACA399787687ITGA2Bc.3103G>T (p.Asp1035Tyr)
c.2417G>T
c.296G>T
c.80G>T
c.3001G>T (p.Asp1001Tyr)
c.2986G>T (p.Asp996Tyr)
17g.44372381C>GCA399787690ITGA2Bc.3103G>C (p.Asp1035His)
c.2417G>C
c.296G>C
c.80G>C
c.3001G>C (p.Asp1001His)
c.2986G>C (p.Asp996His)
17g.44372381C>TCA399787693ITGA2Bc.3103G>A (p.Asp1035Asn)
c.2417G>A
c.296G>A
c.80G>A
c.3001G>A (p.Asp1001Asn)
c.2986G>A (p.Asp996Asn)
17g.44372382A>CCA399787696ITGA2Bc.3102T>G (p.Asp1034Glu)
c.2416T>G
c.295T>G
c.79T>G
c.3000T>G (p.Asp1000Glu)
c.2985T>G (p.Asp995Glu)
17g.44372382A>GCA500260618ITGA2Bc.3102T>C (p.Asp1034=)
c.2416T>C
c.295T>C
c.79T>C
c.3000T>C (p.Asp1000=)
c.2985T>C (p.Asp995=)
17g.44372382A>TCA399787701ITGA2Bc.3102T>A (p.Asp1034Glu)
c.2416T>A
c.295T>A
c.79T>A
c.3000T>A (p.Asp1000Glu)
c.2985T>A (p.Asp995Glu)
17g.44372382_44372385delinsATCTCA2261364355ITGA2Bc.3099_3102delinsAGAT (p.Glu1033=)
c.2413_2416delinsAGAT
c.292_295delinsAGAT
c.76_79delinsAGAT
c.2997_3000delinsAGAT (p.Glu999=)
c.2982_2985delinsAGAT (p.Glu994=)
17g.44372383T>ACA399787704ITGA2Bc.3101A>T (p.Asp1034Val)
c.2415A>T
c.294A>T
c.78A>T
c.2999A>T (p.Asp1000Val)
c.2984A>T (p.Asp995Val)
 ClinVar
17g.44372383T>CCA399787706ITGA2Bc.3101A>G (p.Asp1034Gly)
c.2415A>G
c.294A>G
c.78A>G
c.2999A>G (p.Asp1000Gly)
c.2984A>G (p.Asp995Gly)
 gnomAD v4
17g.44372383T>GCA399787709ITGA2Bc.3101A>C (p.Asp1034Ala)
c.2415A>C
c.294A>C
c.78A>C
c.2999A>C (p.Asp1000Ala)
c.2984A>C (p.Asp995Ala)
17g.44372388_44372390delCA290942822ITGA2Bc.3099_3101del (p.Glu1033del)
c.2413_2415del
c.292_294del
c.76_78del
c.2997_2999del (p.Glu999del)
c.2982_2984del (p.Glu994del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44372384C>ACA399787715ITGA2Bc.3100G>T (p.Asp1034Tyr)
c.2414G>T
c.293G>T
c.77G>T
c.2998G>T (p.Asp1000Tyr)
c.2983G>T (p.Asp995Tyr)
17g.44372384C=CA2261364356ITGA2Bc.3100G= (p.Asp1034=)
c.2414G=
c.293G=
c.77G=
c.2998G= (p.Asp1000=)
c.2983G= (p.Asp995=)
17g.44372384C>GCA399787712ITGA2Bc.3100G>C (p.Asp1034His)
c.2414G>C
c.293G>C
c.77G>C
c.2998G>C (p.Asp1000His)
c.2983G>C (p.Asp995His)
 gnomAD v4
17g.44372384C>TCA399787711ITGA2Bc.3100G>A (p.Asp1034Asn)
c.2414G>A
c.293G>A
c.77G>A
c.2998G>A (p.Asp1000Asn)
c.2983G>A (p.Asp995Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44372385T>ACA290942825ITGA2Bc.3099A>T (p.Glu1033Asp)
c.2413A>T
c.292A>T
c.76A>T
c.2997A>T (p.Glu999Asp)
c.2982A>T (p.Glu994Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.44372385T>CCA500260629ITGA2Bc.3099A>G (p.Glu1033=)
c.2413A>G
c.292A>G
c.76A>G
c.2997A>G (p.Glu999=)
c.2982A>G (p.Glu994=)
17g.44372385T>GCA399787720ITGA2Bc.3099A>C (p.Glu1033Asp)
c.2413A>C
c.292A>C
c.76A>C
c.2997A>C (p.Glu999Asp)
c.2982A>C (p.Glu994Asp)
17g.44372385T=CA2261364357ITGA2Bc.3099A= (p.Glu1033=)
c.2413A=
c.292A=
c.76A=
c.2997A= (p.Glu999=)
c.2982A= (p.Glu994=)
17g.44372386T>ACA399787723ITGA2Bc.3098A>T (p.Glu1033Val)
c.2412A>T
c.291A>T
c.75A>T
c.2996A>T (p.Glu999Val)
c.2981A>T (p.Glu994Val)
17g.44372386T>CCA399787725ITGA2Bc.3098A>G (p.Glu1033Gly)
c.2412A>G
c.291A>G
c.75A>G
c.2996A>G (p.Glu999Gly)
c.2981A>G (p.Glu994Gly)
17g.44372386T>GCA399787728ITGA2Bc.3098A>C (p.Glu1033Ala)
c.2412A>C
c.291A>C
c.75A>C
c.2996A>C (p.Glu999Ala)
c.2981A>C (p.Glu994Ala)
17g.44372387C>ACA399787734ITGA2Bc.3097G>T (p.Glu1033Ter)
c.2411G>T
c.290G>T
c.74G>T
c.2995G>T (p.Glu999Ter)
c.2980G>T (p.Glu994Ter)
17g.44372387C>GCA399787736ITGA2Bc.3097G>C (p.Glu1033Gln)
c.2411G>C
c.290G>C
c.74G>C
c.2995G>C (p.Glu999Gln)
c.2980G>C (p.Glu994Gln)
17g.44372387C>TCA399787739ITGA2Bc.3097G>A (p.Glu1033Lys)
c.2411G>A
c.290G>A
c.74G>A
c.2995G>A (p.Glu999Lys)
c.2980G>A (p.Glu994Lys)
17g.44372388T>ACA399787743ITGA2Bc.3096A>T (p.Glu1032Asp)
c.2410A>T
c.289A>T
c.73A>T
c.2994A>T (p.Glu998Asp)
c.2979A>T (p.Glu993Asp)
17g.44372388T>CCA290942834ITGA2Bc.3096A>G (p.Glu1032=)
c.2410A>G
c.289A>G
c.73A>G
c.2994A>G (p.Glu998=)
c.2979A>G (p.Glu993=)
 dbSNP
17g.44372388T>GCA399787745ITGA2Bc.3096A>C (p.Glu1032Asp)
c.2410A>C
c.289A>C
c.73A>C
c.2994A>C (p.Glu998Asp)
c.2979A>C (p.Glu993Asp)
17g.44372388T=CA2261364358ITGA2Bc.3096A= (p.Glu1032=)
c.2410A=
c.289A=
c.73A=
c.2994A= (p.Glu998=)
c.2979A= (p.Glu993=)
17g.44372389T>ACA399787758ITGA2Bc.3095A>T (p.Glu1032Val)
c.2409A>T
c.288A>T
c.72A>T
c.2993A>T (p.Glu998Val)
c.2978A>T (p.Glu993Val)
17g.44372389T>CCA399787763ITGA2Bc.3095A>G (p.Glu1032Gly)
c.2409A>G
c.288A>G
c.72A>G
c.2993A>G (p.Glu998Gly)
c.2978A>G (p.Glu993Gly)
17g.44372389T>GCA399787766ITGA2Bc.3095A>C (p.Glu1032Ala)
c.2409A>C
c.288A>C
c.72A>C
c.2993A>C (p.Glu998Ala)
c.2978A>C (p.Glu993Ala)
17g.44372390C>ACA399787776ITGA2Bc.3094G>T (p.Glu1032Ter)
c.2408G>T
c.287G>T
c.71G>T
c.2992G>T (p.Glu998Ter)
c.2977G>T (p.Glu993Ter)
17g.44372390C=CA2261364359ITGA2Bc.3094G= (p.Glu1032=)
c.2408G=
c.287G=
c.71G=
c.2992G= (p.Glu998=)
c.2977G= (p.Glu993=)
17g.44372390C>GCA399787777ITGA2Bc.3094G>C (p.Glu1032Gln)
c.2408G>C
c.287G>C
c.71G>C
c.2992G>C (p.Glu998Gln)
c.2977G>C (p.Glu993Gln)
17g.44372390C>TCA399787770ITGA2Bc.3094G>A (p.Glu1032Lys)
c.2408G>A
c.287G>A
c.71G>A
c.2992G>A (p.Glu998Lys)
c.2977G>A (p.Glu993Lys)
 gnomAD v4
17g.44372391dupCA915940756ITGA2Bc.3094dup (p.Glu1032GlyfsTer4)
c.2408dup
c.287dup
c.71dup
c.2992dup (p.Glu998GlyfsTer4)
c.2977dup (p.Glu993GlyfsTer4)
17g.44372391C>ACA500260675ITGA2Bc.3093G>T (p.Leu1031=)
c.2407G>T
c.286G>T
c.70G>T
c.2991G>T (p.Leu997=)
c.2976G>T (p.Leu992=)
 gnomAD v3 gnomAD v4
17g.44372391C>GCA500260671ITGA2Bc.3093G>C (p.Leu1031=)
c.2407G>C
c.286G>C
c.70G>C
c.2991G>C (p.Leu997=)
c.2976G>C (p.Leu992=)
17g.44372391C>TCA500260674ITGA2Bc.3093G>A (p.Leu1031=)
c.2407G>A
c.286G>A
c.70G>A
c.2991G>A (p.Leu997=)
c.2976G>A (p.Leu992=)
17g.44372391_44372392dupCA500260678ITGA2Bc.3092_3093dup (p.Glu1032TrpfsTer?)
c.2406_2407dup
c.285_286dup
c.69_70dup
c.2990_2991dup (p.Glu998TrpfsTer?)
c.2975_2976dup (p.Glu993TrpfsTer?)
 ClinVar dbSNP gnomAD v4
17g.44372392delCA915940323ITGA2Bc.3092del (p.Leu1031ArgfsTer?)
c.2406del
c.285del
c.69del
c.2990del (p.Leu997ArgfsTer?)
c.2975del (p.Leu992ArgfsTer?)
 ClinVar dbSNP gnomAD v4
17g.44372392A=CA2261364360ITGA2Bc.3092T= (p.Leu1031=)
c.2406T=
c.285T=
c.69T=
c.2990T= (p.Leu997=)
c.2975T= (p.Leu992=)
17g.44372392A>CCA399787779ITGA2Bc.3092T>G (p.Leu1031Arg)
c.2406T>G
c.285T>G
c.69T>G
c.2990T>G (p.Leu997Arg)
c.2975T>G (p.Leu992Arg)
17g.44372392A>GCA8602455ITGA2Bc.3092T>C (p.Leu1031Pro)
c.2406T>C
c.285T>C
c.69T>C
c.2990T>C (p.Leu997Pro)
c.2975T>C (p.Leu992Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44372392A>TCA399787782ITGA2Bc.3092T>A (p.Leu1031Gln)
c.2406T>A
c.285T>A
c.69T>A
c.2990T>A (p.Leu997Gln)
c.2975T>A (p.Leu992Gln)
17g.44372393G>ACA500260685ITGA2Bc.3091C>T (p.Leu1031=)
c.2405C>T
c.284C>T
c.68C>T
c.2989C>T (p.Leu997=)
c.2974C>T (p.Leu992=)
 gnomAD v3 gnomAD v4
17g.44372393G>CCA399787790ITGA2Bc.3091C>G (p.Leu1031Val)
c.2405C>G
c.284C>G
c.68C>G
c.2989C>G (p.Leu997Val)
c.2974C>G (p.Leu992Val)
17g.44372393G>TCA399787793ITGA2Bc.3091C>A (p.Leu1031Met)
c.2405C>A
c.284C>A
c.68C>A
c.2989C>A (p.Leu997Met)
c.2974C>A (p.Leu992Met)
17g.44372396delCA915940322ITGA2Bc.3091del (p.Leu1031TrpfsTer?)
c.2405del
c.284del
c.68del
c.2989del (p.Leu997TrpfsTer?)
c.2974del (p.Leu992TrpfsTer?)
 ClinVar
17g.44372394G>ACA500260695ITGA2Bc.3090C>T (p.Pro1030=)
c.2404C>T
c.283C>T
c.67C>T
c.2988C>T (p.Pro996=)
c.2973C>T (p.Pro991=)
 dbSNP gnomAD v2 gnomAD v4
17g.44372394G>CCA500260696ITGA2Bc.3090C>G (p.Pro1030=)
c.2404C>G
c.283C>G
c.67C>G
c.2988C>G (p.Pro996=)
c.2973C>G (p.Pro991=)
 ClinVar dbSNP
17g.44372394G=CA2261364361ITGA2Bc.3090C= (p.Pro1030=)
c.2404C=
c.283C=
c.67C=
c.2988C= (p.Pro996=)
c.2973C= (p.Pro991=)
17g.44372394G>TCA500260697ITGA2Bc.3090C>A (p.Pro1030=)
c.2404C>A
c.283C>A
c.67C>A
c.2988C>A (p.Pro996=)
c.2973C>A (p.Pro991=)
17g.44372395G>ACA399787795ITGA2Bc.3089C>T (p.Pro1030Leu)
c.2403C>T
c.282C>T
c.66C>T
c.2987C>T (p.Pro996Leu)
c.2972C>T (p.Pro991Leu)
 gnomAD v4
17g.44372395G>CCA399787798ITGA2Bc.3089C>G (p.Pro1030Arg)
c.2403C>G
c.282C>G
c.66C>G
c.2987C>G (p.Pro996Arg)
c.2972C>G (p.Pro991Arg)
17g.44372395G>TCA399787800ITGA2Bc.3089C>A (p.Pro1030His)
c.2403C>A
c.282C>A
c.66C>A
c.2987C>A (p.Pro996His)
c.2972C>A (p.Pro991His)
17g.44372396G>ACA8602456ITGA2Bc.3088C>T (p.Pro1030Ser)
c.2402C>T
c.281C>T
c.65C>T
c.2986C>T (p.Pro996Ser)
c.2971C>T (p.Pro991Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44372396G>CCA399787806ITGA2Bc.3088C>G (p.Pro1030Ala)
c.2402C>G
c.281C>G
c.65C>G
c.2986C>G (p.Pro996Ala)
c.2971C>G (p.Pro991Ala)
 gnomAD v4
17g.44372396G=CA2261364362ITGA2Bc.3088C= (p.Pro1030=)
c.2402C=
c.281C=
c.65C=
c.2986C= (p.Pro996=)
c.2971C= (p.Pro991=)
17g.44372396G>TCA399787808ITGA2Bc.3088C>A (p.Pro1030Thr)
c.2402C>A
c.281C>A
c.65C>A
c.2986C>A (p.Pro996Thr)
c.2971C>A (p.Pro991Thr)
 gnomAD v4
17g.44372397T>ACA500260706ITGA2Bc.3087A>T (p.Pro1029=)
c.2401A>T
c.280A>T
c.64A>T
c.2985A>T (p.Pro995=)
c.2970A>T (p.Pro990=)
17g.44372397T>CCA500260709ITGA2Bc.3087A>G (p.Pro1029=)
c.2401A>G
c.280A>G
c.64A>G
c.2985A>G (p.Pro995=)
c.2970A>G (p.Pro990=)
17g.44372397T>GCA500260710ITGA2Bc.3087A>C (p.Pro1029=)
c.2401A>C
c.280A>C
c.64A>C
c.2985A>C (p.Pro995=)
c.2970A>C (p.Pro990=)
17g.44372398G>ACA399787818ITGA2Bc.3086C>T (p.Pro1029Leu)
c.2400C>T
c.279C>T
c.63C>T
c.2984C>T (p.Pro995Leu)
c.2969C>T (p.Pro990Leu)
17g.44372398G>CCA399787815ITGA2Bc.3086C>G (p.Pro1029Arg)
c.2400C>G
c.279C>G
c.63C>G
c.2984C>G (p.Pro995Arg)
c.2969C>G (p.Pro990Arg)
 gnomAD v4
17g.44372398G>TCA399787813ITGA2Bc.3086C>A (p.Pro1029Gln)
c.2400C>A
c.279C>A
c.63C>A
c.2984C>A (p.Pro995Gln)
c.2969C>A (p.Pro990Gln)
17g.44372399G>ACA399787821ITGA2Bc.3085C>T (p.Pro1029Ser)
c.2399C>T
c.278C>T
c.62C>T
c.2983C>T (p.Pro995Ser)
c.2968C>T (p.Pro990Ser)
17g.44372399G>CCA399787824ITGA2Bc.3085C>G (p.Pro1029Ala)
c.2399C>G
c.278C>G
c.62C>G
c.2983C>G (p.Pro995Ala)
c.2968C>G (p.Pro990Ala)
17g.44372399G=CA2261364363ITGA2Bc.3085C= (p.Pro1029=)
c.2399C=
c.278C=
c.62C=
c.2983C= (p.Pro995=)
c.2968C= (p.Pro990=)
17g.44372399G>TCA399787827ITGA2Bc.3085C>A (p.Pro1029Thr)
c.2399C>A
c.278C>A
c.62C>A
c.2983C>A (p.Pro995Thr)
c.2968C>A (p.Pro990Thr)
 dbSNP gnomAD v3 gnomAD v4
17g.44372400C>ACA500260721ITGA2Bc.3084G>T (p.Arg1028=)
c.2398G>T
c.277G>T
c.61G>T
c.2982G>T (p.Arg994=)
c.2967G>T (p.Arg989=)
17g.44372400C>GCA500260722ITGA2Bc.3084G>C (p.Arg1028=)
c.2398G>C
c.277G>C
c.61G>C
c.2982G>C (p.Arg994=)
c.2967G>C (p.Arg989=)
17g.44372400C>TCA500260724ITGA2Bc.3084G>A (p.Arg1028=)
c.2398G>A
c.277G>A
c.61G>A
c.2982G>A (p.Arg994=)
c.2967G>A (p.Arg989=)
 COSMIC
17g.44372401C>ACA399787831ITGA2Bc.3083G>T (p.Arg1028Leu)
c.2397G>T
c.276G>T
c.60G>T
c.2981G>T (p.Arg994Leu)
c.2966G>T (p.Arg989Leu)
17g.44372401C=CA2261364364ITGA2Bc.3083G= (p.Arg1028=)
c.2397G=
c.276G=
c.60G=
c.2981G= (p.Arg994=)
c.2966G= (p.Arg989=)
17g.44372401C>GCA399787834ITGA2Bc.3083G>C (p.Arg1028Pro)
c.2397G>C
c.276G>C
c.60G>C
c.2981G>C (p.Arg994Pro)
c.2966G>C (p.Arg989Pro)
17g.44372401C>TCA8602457ITGA2Bc.3083G>A (p.Arg1028Gln)
c.2397G>A
c.276G>A
c.60G>A
c.2981G>A (p.Arg994Gln)
c.2966G>A (p.Arg989Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372402G>ACA8602458ITGA2Bc.3082C>T (p.Arg1028Trp)
c.2396C>T
c.275C>T
c.59C>T
c.2980C>T (p.Arg994Trp)
c.2965C>T (p.Arg989Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372402G>CCA399787837ITGA2Bc.3082C>G (p.Arg1028Gly)
c.2396C>G
c.275C>G
c.59C>G
c.2980C>G (p.Arg994Gly)
c.2965C>G (p.Arg989Gly)
17g.44372402G=CA2261364365ITGA2Bc.3082C= (p.Arg1028=)
c.2396C=
c.275C=
c.59C=
c.2980C= (p.Arg994=)
c.2965C= (p.Arg989=)
17g.44372402G>TCA500260727ITGA2Bc.3082C>A (p.Arg1028=)
c.2396C>A
c.275C>A
c.59C>A
c.2980C>A (p.Arg994=)
c.2965C>A (p.Arg989=)
17g.44372403G>ACA500260732ITGA2Bc.3081C>T (p.Asn1027=)
c.2395C>T
c.274C>T
c.58C>T
c.2979C>T (p.Asn993=)
c.2964C>T (p.Asn988=)
17g.44372403G>CCA399787839ITGA2Bc.3081C>G (p.Asn1027Lys)
c.2395C>G
c.274C>G
c.58C>G
c.2979C>G (p.Asn993Lys)
c.2964C>G (p.Asn988Lys)
17g.44372403G>TCA399787840ITGA2Bc.3081C>A (p.Asn1027Lys)
c.2395C>A
c.274C>A
c.58C>A
c.2979C>A (p.Asn993Lys)
c.2964C>A (p.Asn988Lys)
17g.44372404T>ACA399787842ITGA2Bc.3080A>T (p.Asn1027Ile)
c.2394A>T
c.273A>T
c.57A>T
c.2978A>T (p.Asn993Ile)
c.2963A>T (p.Asn988Ile)
17g.44372404T>CCA399787843ITGA2Bc.3080A>G (p.Asn1027Ser)
c.2394A>G
c.273A>G
c.57A>G
c.2978A>G (p.Asn993Ser)
c.2963A>G (p.Asn988Ser)
17g.44372404T>GCA399787844ITGA2Bc.3080A>C (p.Asn1027Thr)
c.2394A>C
c.273A>C
c.57A>C
c.2978A>C (p.Asn993Thr)
c.2963A>C (p.Asn988Thr)
17g.44372405T>ACA399787849ITGA2Bc.3079A>T (p.Asn1027Tyr)
c.2393A>T
c.272A>T
c.56A>T
c.2977A>T (p.Asn993Tyr)
c.2962A>T (p.Asn988Tyr)
17g.44372405T>CCA399787852ITGA2Bc.3079A>G (p.Asn1027Asp)
c.2393A>G
c.272A>G
c.56A>G
c.2977A>G (p.Asn993Asp)
c.2962A>G (p.Asn988Asp)
17g.44372405T>GCA399787847ITGA2Bc.3079A>C (p.Asn1027His)
c.2393A>C
c.272A>C
c.56A>C
c.2977A>C (p.Asn993His)
c.2962A>C (p.Asn988His)
17g.44372406C>ACA500260746ITGA2Bc.3078G>T (p.Arg1026=)
c.2392G>T
c.271G>T
c.55G>T
c.2976G>T (p.Arg992=)
c.2961G>T (p.Arg987=)
17g.44372406C>GCA500260749ITGA2Bc.3078G>C (p.Arg1026=)
c.2392G>C
c.271G>C
c.55G>C
c.2976G>C (p.Arg992=)
c.2961G>C (p.Arg987=)
17g.44372406C>TCA500260752ITGA2Bc.3078G>A (p.Arg1026=)
c.2392G>A
c.271G>A
c.55G>A
c.2976G>A (p.Arg992=)
c.2961G>A (p.Arg987=)
 COSMIC
17g.44372407C>ACA399787855ITGA2Bc.3077G>T (p.Arg1026Leu)
c.2391G>T
c.270G>T
c.54G>T
c.2975G>T (p.Arg992Leu)
c.2960G>T (p.Arg987Leu)
 ClinVar
17g.44372407C=CA2261364366ITGA2Bc.3077G= (p.Arg1026=)
c.2391G=
c.270G=
c.54G=
c.2975G= (p.Arg992=)
c.2960G= (p.Arg987=)
17g.44372407C>GCA399787853ITGA2Bc.3077G>C (p.Arg1026Pro)
c.2391G>C
c.270G>C
c.54G>C
c.2975G>C (p.Arg992Pro)
c.2960G>C (p.Arg987Pro)
17g.44372407C>TCA10575572ITGA2Bc.3077G>A (p.Arg1026Gln)
c.2391G>A
c.270G>A
c.54G>A
c.2975G>A (p.Arg992Gln)
c.2960G>A (p.Arg987Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.44372407_44372408delinsCGCA2261364367ITGA2Bc.3076_3077delinsCG (p.Arg1026=)
c.2390_2391delinsCG
c.269_270delinsCG
c.53_54delinsCG
c.2974_2975delinsCG (p.Arg992=)
c.2959_2960delinsCG (p.Arg987=)
17g.44372407_44372408delinsGCCA915940802ITGA2Bc.3076_3077delinsGC (p.Arg1026Ala)
c.2390_2391delinsGC
c.269_270delinsGC
c.53_54delinsGC
c.2974_2975delinsGC (p.Arg992Ala)
c.2959_2960delinsGC (p.Arg987Ala)
 ClinVar dbSNP
17g.44372408G>ACA10575573ITGA2Bc.3076C>T (p.Arg1026Trp)
c.2390C>T
c.269C>T
c.53C>T
c.2974C>T (p.Arg992Trp)
c.2959C>T (p.Arg987Trp)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.44372408G>CCA399787861ITGA2Bc.3076C>G (p.Arg1026Gly)
c.2390C>G
c.269C>G
c.53C>G
c.2974C>G (p.Arg992Gly)
c.2959C>G (p.Arg987Gly)
17g.44372408G=CA2261364368ITGA2Bc.3076C= (p.Arg1026=)
c.2390C=
c.269C=
c.53C=
c.2974C= (p.Arg992=)
c.2959C= (p.Arg987=)
17g.44372408G>TCA8602459ITGA2Bc.3076C>A (p.Arg1026=)
c.2390C>A
c.269C>A
c.53C>A
c.2974C>A (p.Arg992=)
c.2959C>A (p.Arg987=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44372409C>ACA399787866ITGA2Bc.3075G>T (p.Lys1025Asn)
c.2389G>T
c.268G>T
c.52G>T
c.2973G>T (p.Lys991Asn)
c.2958G>T (p.Lys986Asn)
17g.44372409C>GCA399787867ITGA2Bc.3075G>C (p.Lys1025Asn)
c.2389G>C
c.268G>C
c.52G>C
c.2973G>C (p.Lys991Asn)
c.2958G>C (p.Lys986Asn)
17g.44372409C>TCA500260767ITGA2Bc.3075G>A (p.Lys1025=)
c.2389G>A
c.268G>A
c.52G>A
c.2973G>A (p.Lys991=)
c.2958G>A (p.Lys986=)
17g.44372410T>ACA399787873ITGA2Bc.3074A>T (p.Lys1025Met)
c.2388A>T
c.267A>T
c.51A>T
c.2972A>T (p.Lys991Met)
c.2957A>T (p.Lys986Met)
17g.44372410T>CCA399787880ITGA2Bc.3074A>G (p.Lys1025Arg)
c.2388A>G
c.267A>G
c.51A>G
c.2972A>G (p.Lys991Arg)
c.2957A>G (p.Lys986Arg)
17g.44372410T>GCA399787883ITGA2Bc.3074A>C (p.Lys1025Thr)
c.2388A>C
c.267A>C
c.51A>C
c.2972A>C (p.Lys991Thr)
c.2957A>C (p.Lys986Thr)
17g.44372411T>ACA399787886ITGA2Bc.3073A>T (p.Lys1025Ter)
c.2387A>T
c.266A>T
c.50A>T
c.2971A>T (p.Lys991Ter)
c.2956A>T (p.Lys986Ter)
17g.44372411T>CCA399787889ITGA2Bc.3073A>G (p.Lys1025Glu)
c.2387A>G
c.266A>G
c.50A>G
c.2971A>G (p.Lys991Glu)
c.2956A>G (p.Lys986Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44372411T>GCA399787892ITGA2Bc.3073A>C (p.Lys1025Gln)
c.2387A>C
c.266A>C
c.50A>C
c.2971A>C (p.Lys991Gln)
c.2956A>C (p.Lys986Gln)
17g.44372411T=CA2261364370ITGA2Bc.3073A= (p.Lys1025=)
c.2387A=
c.266A=
c.50A=
c.2971A= (p.Lys991=)
c.2956A= (p.Lys986=)
17g.44372411_44372414delinsTGAACA2261364369ITGA2Bc.3070_3073delinsTTCA (p.Phe1024=)
c.2384_2387delinsTTCA
c.263_266delinsTTCA
c.47_50delinsTTCA
c.2968_2971delinsTTCA (p.Phe990=)
c.2953_2956delinsTTCA (p.Phe985=)
17g.44372412G>ACA500260789ITGA2Bc.3072C>T (p.Phe1024=)
c.2386C>T
c.265C>T
c.49C>T
c.2970C>T (p.Phe990=)
c.2955C>T (p.Phe985=)
17g.44372412G>CCA399787894ITGA2Bc.3072C>G (p.Phe1024Leu)
c.2386C>G
c.265C>G
c.49C>G
c.2970C>G (p.Phe990Leu)
c.2955C>G (p.Phe985Leu)
17g.44372412G>TCA399787895ITGA2Bc.3072C>A (p.Phe1024Leu)
c.2386C>A
c.265C>A
c.49C>A
c.2970C>A (p.Phe990Leu)
c.2955C>A (p.Phe985Leu)
17g.44372416_44372418delCA8602460ITGA2Bc.3070_3072del (p.Phe1024del)
c.2384_2386del
c.263_265del
c.47_49del
c.2968_2970del (p.Phe990del)
c.2953_2955del (p.Phe985del)
 dbSNP ExAC gnomAD v2
17g.44372413A>CCA399787902ITGA2Bc.3071T>G (p.Phe1024Cys)
c.2385T>G
c.264T>G
c.48T>G
c.2969T>G (p.Phe990Cys)
c.2954T>G (p.Phe985Cys)
17g.44372413A>GCA399787897ITGA2Bc.3071T>C (p.Phe1024Ser)
c.2385T>C
c.264T>C
c.48T>C
c.2969T>C (p.Phe990Ser)
c.2954T>C (p.Phe985Ser)
17g.44372413A>TCA399787899ITGA2Bc.3071T>A (p.Phe1024Tyr)
c.2385T>A
c.264T>A
c.48T>A
c.2969T>A (p.Phe990Tyr)
c.2954T>A (p.Phe985Tyr)
17g.44372414A=CA2261364371ITGA2Bc.3070T= (p.Phe1024=)
c.2384T=
c.263T=
c.47T=
c.2968T= (p.Phe990=)
c.2953T= (p.Phe985=)
17g.44372414A>CCA399787905ITGA2Bc.3070T>G (p.Phe1024Val)
c.2384T>G
c.263T>G
c.47T>G
c.2968T>G (p.Phe990Val)
c.2953T>G (p.Phe985Val)
17g.44372414A>GCA399787907ITGA2Bc.3070T>C (p.Phe1024Leu)
c.2384T>C
c.263T>C
c.47T>C
c.2968T>C (p.Phe990Leu)
c.2953T>C (p.Phe985Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.44372414A>TCA399787909ITGA2Bc.3070T>A (p.Phe1024Ile)
c.2384T>A
c.263T>A
c.47T>A
c.2968T>A (p.Phe990Ile)
c.2953T>A (p.Phe985Ile)
 ClinVar
17g.44372415G>ACA500260800ITGA2Bc.3069C>T (p.Phe1023=)
c.2383C>T
c.262C>T
c.46C>T
c.2967C>T (p.Phe989=)
c.2952C>T (p.Phe984=)
17g.44372415G>CCA399787913ITGA2Bc.3069C>G (p.Phe1023Leu)
c.2383C>G
c.262C>G
c.46C>G
c.2967C>G (p.Phe989Leu)
c.2952C>G (p.Phe984Leu)
17g.44372415G>TCA399787916ITGA2Bc.3069C>A (p.Phe1023Leu)
c.2383C>A
c.262C>A
c.46C>A
c.2967C>A (p.Phe989Leu)
c.2952C>A (p.Phe984Leu)
17g.44372416A>CCA399787918ITGA2Bc.3068T>G (p.Phe1023Cys)
c.2382T>G
c.261T>G
c.45T>G
c.2966T>G (p.Phe989Cys)
c.2951T>G (p.Phe984Cys)
17g.44372416A>GCA399787922ITGA2Bc.3068T>C (p.Phe1023Ser)
c.2382T>C
c.261T>C
c.45T>C
c.2966T>C (p.Phe989Ser)
c.2951T>C (p.Phe984Ser)
17g.44372416A>TCA399787925ITGA2Bc.3068T>A (p.Phe1023Tyr)
c.2382T>A
c.261T>A
c.45T>A
c.2966T>A (p.Phe989Tyr)
c.2951T>A (p.Phe984Tyr)
17g.44372417A>CCA399787931ITGA2Bc.3067T>G (p.Phe1023Val)
c.2381T>G
c.260T>G
c.44T>G
c.2965T>G (p.Phe989Val)
c.2950T>G (p.Phe984Val)
17g.44372417A>GCA399787933ITGA2Bc.3067T>C (p.Phe1023Leu)
c.2381T>C
c.260T>C
c.44T>C
c.2965T>C (p.Phe989Leu)
c.2950T>C (p.Phe984Leu)
17g.44372417A>TCA399787935ITGA2Bc.3067T>A (p.Phe1023Ile)
c.2381T>A
c.260T>A
c.44T>A
c.2965T>A (p.Phe989Ile)
c.2950T>A (p.Phe984Ile)
17g.44372418G>ACA500260815ITGA2Bc.3066C>T (p.Gly1022=)
c.2380C>T
c.259C>T
c.43C>T
c.2964C>T (p.Gly988=)
c.2949C>T (p.Gly983=)
17g.44372418G>CCA500260817ITGA2Bc.3066C>G (p.Gly1022=)
c.2380C>G
c.259C>G
c.43C>G
c.2964C>G (p.Gly988=)
c.2949C>G (p.Gly983=)
17g.44372418G>TCA500260816ITGA2Bc.3066C>A (p.Gly1022=)
c.2380C>A
c.259C>A
c.43C>A
c.2964C>A (p.Gly988=)
c.2949C>A (p.Gly983=)
17g.44372419C>ACA399787941ITGA2Bc.3065G>T (p.Gly1022Val)
c.2379G>T
c.258G>T
c.42G>T
c.2963G>T (p.Gly988Val)
c.2948G>T (p.Gly983Val)
17g.44372419C>GCA399787942ITGA2Bc.3065G>C (p.Gly1022Ala)
c.2379G>C
c.258G>C
c.42G>C
c.2963G>C (p.Gly988Ala)
c.2948G>C (p.Gly983Ala)
 gnomAD v4
17g.44372419C>TCA399787940ITGA2Bc.3065G>A (p.Gly1022Asp)
c.2379G>A
c.258G>A
c.42G>A
c.2963G>A (p.Gly988Asp)
c.2948G>A (p.Gly983Asp)
17g.44372420C>ACA399787943ITGA2Bc.3064G>T (p.Gly1022Cys)
c.2378G>T
c.257G>T
c.41G>T
c.2962G>T (p.Gly988Cys)
c.2947G>T (p.Gly983Cys)
17g.44372420C=CA2261364372ITGA2Bc.3064G= (p.Gly1022=)
c.2378G=
c.257G=
c.41G=
c.2962G= (p.Gly988=)
c.2947G= (p.Gly983=)
17g.44372420C>GCA399787944ITGA2Bc.3064G>C (p.Gly1022Arg)
c.2378G>C
c.257G>C
c.41G>C
c.2962G>C (p.Gly988Arg)
c.2947G>C (p.Gly983Arg)
 dbSNP
17g.44372420C>TCA399787952ITGA2Bc.3064G>A (p.Gly1022Ser)
c.2378G>A
c.257G>A
c.41G>A
c.2962G>A (p.Gly988Ser)
c.2947G>A (p.Gly983Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.44372421delCA645584247ITGA2Bc.3063del (p.Gly1022AlafsTer?)
c.2377del
c.256del
c.40del
c.2961del (p.Gly988AlafsTer?)
c.2946del (p.Gly983AlafsTer?)
 gnomAD v4 COSMIC
17g.44372421G>ACA8602461ITGA2Bc.3063C>T (p.Val1021=)
c.2377C>T
c.256C>T
c.40C>T
c.2961C>T (p.Val987=)
c.2946C>T (p.Val982=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372421G>CCA500260836ITGA2Bc.3063C>G (p.Val1021=)
c.2377C>G
c.256C>G
c.40C>G
c.2961C>G (p.Val987=)
c.2946C>G (p.Val982=)
17g.44372421G=CA2261364373ITGA2Bc.3063C= (p.Val1021=)
c.2377C=
c.256C=
c.40C=
c.2961C= (p.Val987=)
c.2946C= (p.Val982=)
17g.44372421G>TCA500260838ITGA2Bc.3063C>A (p.Val1021=)
c.2377C>A
c.256C>A
c.40C>A
c.2961C>A (p.Val987=)
c.2946C>A (p.Val982=)
 dbSNP gnomAD v4
17g.44372422A>CCA399787954ITGA2Bc.3062T>G (p.Val1021Gly)
c.2376T>G
c.255T>G
c.39T>G
c.2960T>G (p.Val987Gly)
c.2945T>G (p.Val982Gly)
17g.44372422A>GCA399787956ITGA2Bc.3062T>C (p.Val1021Ala)
c.2376T>C
c.255T>C
c.39T>C
c.2960T>C (p.Val987Ala)
c.2945T>C (p.Val982Ala)
 ClinVar dbSNP
17g.44372422A>TCA399787958ITGA2Bc.3062T>A (p.Val1021Asp)
c.2376T>A
c.255T>A
c.39T>A
c.2960T>A (p.Val987Asp)
c.2945T>A (p.Val982Asp)
17g.44372423C>ACA8602462ITGA2Bc.3061G>T (p.Val1021Phe)
c.2375G>T
c.254G>T
c.38G>T
c.2959G>T (p.Val987Phe)
c.2944G>T (p.Val982Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44372423C=CA2261364374ITGA2Bc.3061G= (p.Val1021=)
c.2375G=
c.254G=
c.38G=
c.2959G= (p.Val987=)
c.2944G= (p.Val982=)
17g.44372423C>GCA399787962ITGA2Bc.3061G>C (p.Val1021Leu)
c.2375G>C
c.254G>C
c.38G>C
c.2959G>C (p.Val987Leu)
c.2944G>C (p.Val982Leu)
17g.44372423C>TCA399787966ITGA2Bc.3061G>A (p.Val1021Ile)
c.2375G>A
c.254G>A
c.38G>A
c.2959G>A (p.Val987Ile)
c.2944G>A (p.Val982Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.44372424C>ACA399787969ITGA2Bc.3061-1G>T (n.3061-1G>T)
c.2375-1G>T
c.254-1G>T
c.38-1G>T
c.2959-1G>T (n.2959-1G>T)
c.2944-1G>T (n.2944-1G>T)
17g.44372424C>GCA399787971ITGA2Bc.3061-1G>C (n.3061-1G>C)
c.2375-1G>C
c.254-1G>C
c.38-1G>C
c.2959-1G>C (n.2959-1G>C)
c.2944-1G>C (n.2944-1G>C)
 gnomAD v4
17g.44372424C>TCA399787972ITGA2Bc.3061-1G>A (n.3061-1G>A)
c.2375-1G>A
c.254-1G>A
c.38-1G>A
c.2959-1G>A (n.2959-1G>A)
c.2944-1G>A (n.2944-1G>A)
 ClinVar gnomAD v4
17g.44372425T>ACA399787977ITGA2Bc.3061-2A>T (n.3061-2A>T)
c.2375-2A>T
c.254-2A>T
c.38-2A>T
c.2959-2A>T (n.2959-2A>T)
c.2944-2A>T (n.2944-2A>T)
17g.44372425T>CCA399787975ITGA2Bc.3061-2A>G (n.3061-2A>G)
c.2375-2A>G
c.254-2A>G
c.38-2A>G
c.2959-2A>G (n.2959-2A>G)
c.2944-2A>G (n.2944-2A>G)
17g.44372425T>GCA399787973ITGA2Bc.3061-2A>C (n.3061-2A>C)
c.2375-2A>C
c.254-2A>C
c.38-2A>C
c.2959-2A>C (n.2959-2A>C)
c.2944-2A>C (n.2944-2A>C)
17g.44372425_44372426delinsTGCA2261364375ITGA2Bc.3061-3_3061-2delinsCA (n.3061-3_3061-2delinsCA)
c.2375-3_2375-2delinsCA
c.254-3_254-2delinsCA
c.38-3_38-2delinsCA
c.2959-3_2959-2delinsCA (n.2959-3_2959-2delinsCA)
c.2944-3_2944-2delinsCA (n.2944-3_2944-2delinsCA)
17g.44372426G>ACA8602463ITGA2Bc.3061-3C>T (n.3061-3C>T)
c.2375-3C>T
c.254-3C>T
c.38-3C>T
c.2959-3C>T (n.2959-3C>T)
c.2944-3C>T (n.2944-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372426G=CA2261364376ITGA2Bc.3061-3C= (n.3061-3C=)
c.2375-3C=
c.254-3C=
c.38-3C=
c.2959-3C= (n.2959-3C=)
c.2944-3C= (n.2944-3C=)
17g.44372430delCA626119012ITGA2Bc.3061-3del (n.3061-3del)
c.2375-3del
c.254-3del
c.38-3del
c.2959-3del (n.2959-3del)
c.2944-3del (n.2944-3del)
 dbSNP gnomAD v2 gnomAD v4
17g.44372427G>ACA8602464ITGA2Bc.3061-4C>T (n.3061-4C>T)
c.2375-4C>T
c.254-4C>T
c.38-4C>T
c.2959-4C>T (n.2959-4C>T)
c.2944-4C>T (n.2944-4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372427G=CA2261364377ITGA2Bc.3061-4C= (n.3061-4C=)
c.2375-4C=
c.254-4C=
c.38-4C=
c.2959-4C= (n.2959-4C=)
c.2944-4C= (n.2944-4C=)
17g.44372427G>TCA2638212670ITGA2Bc.3061-4C>A (n.3061-4C>A)
c.2375-4C>A
c.254-4C>A
c.38-4C>A
c.2959-4C>A (n.2959-4C>A)
c.2944-4C>A (n.2944-4C>A)
 dbSNP gnomAD v4
17g.44372428G>ACA8602465ITGA2Bc.3061-5C>T (n.3061-5C>T)
c.2375-5C>T
c.254-5C>T
c.38-5C>T
c.2959-5C>T (n.2959-5C>T)
c.2944-5C>T (n.2944-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372428G=CA2261364378ITGA2Bc.3061-5C= (n.3061-5C=)
c.2375-5C=
c.254-5C=
c.38-5C=
c.2959-5C= (n.2959-5C=)
c.2944-5C= (n.2944-5C=)
17g.44372428G>TCA2261364379ITGA2Bc.3061-5C>A (n.3061-5C>A)
c.2375-5C>A
c.254-5C>A
c.38-5C>A
c.2959-5C>A (n.2959-5C>A)
c.2944-5C>A (n.2944-5C>A)
 dbSNP gnomAD v4
17g.44372429G>ACA626119018ITGA2Bc.3061-6C>T (n.3061-6C>T)
c.2375-6C>T
c.254-6C>T
c.38-6C>T
c.2959-6C>T (n.2959-6C>T)
c.2944-6C>T (n.2944-6C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44372429G>CCA915940801ITGA2Bc.3061-6C>G (n.3061-6C>G)
c.2375-6C>G
c.254-6C>G
c.38-6C>G
c.2959-6C>G (n.2959-6C>G)
c.2944-6C>G (n.2944-6C>G)
 ClinVar gnomAD v4
17g.44372429G=CA2261364380ITGA2Bc.3061-6C= (n.3061-6C=)
c.2375-6C=
c.254-6C=
c.38-6C=
c.2959-6C= (n.2959-6C=)
c.2944-6C= (n.2944-6C=)
17g.44372430G>ACA626119033ITGA2Bc.3061-7C>T (n.3061-7C>T)
c.2375-7C>T
c.254-7C>T
c.38-7C>T
c.2959-7C>T (n.2959-7C>T)
c.2944-7C>T (n.2944-7C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44372430G>CCA290942869ITGA2Bc.3061-7C>G (n.3061-7C>G)
c.2375-7C>G
c.254-7C>G
c.38-7C>G
c.2959-7C>G (n.2959-7C>G)
c.2944-7C>G (n.2944-7C>G)
 ClinVar dbSNP
17g.44372430G=CA2261364381ITGA2Bc.3061-7C= (n.3061-7C=)
c.2375-7C=
c.254-7C=
c.38-7C=
c.2959-7C= (n.2959-7C=)
c.2944-7C= (n.2944-7C=)
17g.44372430G>TCA8602466ITGA2Bc.3061-7C>A (n.3061-7C>A)
c.2375-7C>A
c.254-7C>A
c.38-7C>A
c.2959-7C>A (n.2959-7C>A)
c.2944-7C>A (n.2944-7C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372431T>CCA2576290831ITGA2Bc.3061-8A>G (n.3061-8A>G)
c.2375-8A>G
c.254-8A>G
c.38-8A>G
c.2959-8A>G (n.2959-8A>G)
c.2944-8A>G (n.2944-8A>G)
17g.44372431T>GCA2638212691ITGA2Bc.3061-8A>C (n.3061-8A>C)
c.2375-8A>C
c.254-8A>C
c.38-8A>C
c.2959-8A>C (n.2959-8A>C)
c.2944-8A>C (n.2944-8A>C)
 gnomAD v4
17g.44372432A>GCA2576290832ITGA2Bc.3061-9T>C (n.3061-9T>C)
c.2375-9T>C
c.254-9T>C
c.38-9T>C
c.2959-9T>C (n.2959-9T>C)
c.2944-9T>C (n.2944-9T>C)
17g.44372433C>GCA2638212696ITGA2Bc.3061-10G>C (n.3061-10G>C)
c.2375-10G>C
c.254-10G>C
c.38-10G>C
c.2959-10G>C (n.2959-10G>C)
c.2944-10G>C (n.2944-10G>C)
 gnomAD v4
17g.44372434A=CA2261364382ITGA2Bc.3061-11T= (n.3061-11T=)
c.2375-11T=
c.254-11T=
c.38-11T=
c.2959-11T= (n.2959-11T=)
c.2944-11T= (n.2944-11T=)
17g.44372434A>GCA2261364383ITGA2Bc.3061-11T>C (n.3061-11T>C)
c.2375-11T>C
c.254-11T>C
c.38-11T>C
c.2959-11T>C (n.2959-11T>C)
c.2944-11T>C (n.2944-11T>C)
 dbSNP gnomAD v4
17g.44372434_44372435insGAGTTGGGGTGGTAGGTGTAACAGAAGACGGAGAGCCCA2809589679ITGA2Bc.3061-12_3061-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC (n.3061-12_3061-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC)
c.2375-12_2375-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC
c.254-12_254-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC
c.38-12_38-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC
c.2959-12_2959-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC (n.2959-12_2959-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC)
c.2944-12_2944-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC (n.2944-12_2944-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC)
17g.44372435C=CA2261364384ITGA2Bc.3061-12G= (n.3061-12G=)
c.2375-12G=
c.254-12G=
c.38-12G=
c.2959-12G= (n.2959-12G=)
c.2944-12G= (n.2944-12G=)
17g.44372435C>TCA8602467ITGA2Bc.3061-12G>A (n.3061-12G>A)
c.2375-12G>A
c.254-12G>A
c.38-12G>A
c.2959-12G>A (n.2959-12G>A)
c.2944-12G>A (n.2944-12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372436G>ACA8602468ITGA2Bc.3061-13C>T (n.3061-13C>T)
c.2375-13C>T
c.254-13C>T
c.38-13C>T
c.2959-13C>T (n.2959-13C>T)
c.2944-13C>T (n.2944-13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372436G>CCA2638212704ITGA2Bc.3061-13C>G (n.3061-13C>G)
c.2375-13C>G
c.254-13C>G
c.38-13C>G
c.2959-13C>G (n.2959-13C>G)
c.2944-13C>G (n.2944-13C>G)
 gnomAD v4
17g.44372436G=CA2261364385ITGA2Bc.3061-13C= (n.3061-13C=)
c.2375-13C=
c.254-13C=
c.38-13C=
c.2959-13C= (n.2959-13C=)
c.2944-13C= (n.2944-13C=)
17g.44372437G>CCA8602469ITGA2Bc.3061-14C>G (n.3061-14C>G)
c.2375-14C>G
c.254-14C>G
c.38-14C>G
c.2959-14C>G (n.2959-14C>G)
c.2944-14C>G (n.2944-14C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44372437G=CA2261364386ITGA2Bc.3061-14C= (n.3061-14C=)
c.2375-14C=
c.254-14C=
c.38-14C=
c.2959-14C= (n.2959-14C=)
c.2944-14C= (n.2944-14C=)
17g.44372438G>ACA2638212711ITGA2Bc.3061-15C>T (n.3061-15C>T)
c.2375-15C>T
c.254-15C>T
c.38-15C>T
c.2959-15C>T (n.2959-15C>T)
c.2944-15C>T (n.2944-15C>T)
 gnomAD v4
17g.44372438G>CCA2576290833ITGA2Bc.3061-15C>G (n.3061-15C>G)
c.2375-15C>G
c.254-15C>G
c.38-15C>G
c.2959-15C>G (n.2959-15C>G)
c.2944-15C>G (n.2944-15C>G)

Number of alleles fetched