Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44372366_44372370dup | CA915940262 | ITGA2B | c.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 |
17 | g.44372369C>A | CA399787596 | ITGA2B | c.3115G>T (p.Glu1039Ter) c.2429G>T c.308G>T c.92G>T c.3013G>T (p.Glu1005Ter) c.2998G>T (p.Glu1000Ter) | |
17 | g.44372369C>G | CA399787598 | ITGA2B | c.3115G>C (p.Glu1039Gln) c.2429G>C c.308G>C c.92G>C c.3013G>C (p.Glu1005Gln) c.2998G>C (p.Glu1000Gln) | |
17 | g.44372369C>T | CA399787601 | ITGA2B | c.3115G>A (p.Glu1039Lys) c.2429G>A c.308G>A c.92G>A c.3013G>A (p.Glu1005Lys) c.2998G>A (p.Glu1000Lys) | COSMIC |
17 | g.44372370C>A | CA500260520 | ITGA2B | c.3114G>T (p.Gly1038=) c.2428G>T c.307G>T c.91G>T c.3012G>T (p.Gly1004=) c.2997G>T (p.Gly999=) | |
17 | g.44372370C>G | CA500260534 | ITGA2B | c.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 |
17 | g.44372370C>T | CA500260536 | ITGA2B | c.3114G>A (p.Gly1038=) c.2428G>A c.307G>A c.91G>A c.3012G>A (p.Gly1004=) c.2997G>A (p.Gly999=) | dbSNP |
17 | g.44372371C>A | CA399787616 | ITGA2B | c.3113G>T (p.Gly1038Val) c.2427G>T c.306G>T c.90G>T c.3011G>T (p.Gly1004Val) c.2996G>T (p.Gly999Val) | |
17 | g.44372371C>G | CA399787619 | ITGA2B | c.3113G>C (p.Gly1038Ala) c.2427G>C c.306G>C c.90G>C c.3011G>C (p.Gly1004Ala) c.2996G>C (p.Gly999Ala) | |
17 | g.44372371C>T | CA399787622 | ITGA2B | c.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 |
17 | g.44372372C>A | CA399787627 | ITGA2B | c.3112G>T (p.Gly1038Trp) c.2426G>T c.305G>T c.89G>T c.3010G>T (p.Gly1004Trp) c.2995G>T (p.Gly999Trp) | |
17 | g.44372372C= | CA2261364348 | ITGA2B | c.3112G= (p.Gly1038=) c.2426G= c.305G= c.89G= c.3010G= (p.Gly1004=) c.2995G= (p.Gly999=) | |
17 | g.44372372C>G | CA399787629 | ITGA2B | c.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 |
17 | g.44372372C>T | CA399787630 | ITGA2B | c.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 |
17 | g.44372373C>A | CA8602452 | ITGA2B | c.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 |
17 | g.44372373C= | CA2261364349 | ITGA2B | c.3111G= (p.Glu1037=) c.2425G= c.304G= c.88G= c.3009G= (p.Glu1003=) c.2994G= (p.Glu998=) | |
17 | g.44372373C>G | CA290942765 | ITGA2B | c.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 |
17 | g.44372373C>T | CA500260554 | ITGA2B | c.3111G>A (p.Glu1037=) c.2425G>A c.304G>A c.88G>A c.3009G>A (p.Glu1003=) c.2994G>A (p.Glu998=) | |
17 | g.44372373_44372376delinsCTCT | CA2261364350 | ITGA2B | c.3108_3111delinsAGAG (p.Glu1036=) c.2422_2425delinsAGAG c.301_304delinsAGAG c.85_88delinsAGAG c.3006_3009delinsAGAG (p.Glu1002=) c.2991_2994delinsAGAG (p.Glu997=) | |
17 | g.44372374T>A | CA399787635 | ITGA2B | c.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 |
17 | g.44372374T>C | CA8602453 | ITGA2B | c.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 |
17 | g.44372374T>G | CA399787640 | ITGA2B | c.3110A>C (p.Glu1037Ala) c.2424A>C c.303A>C c.87A>C c.3008A>C (p.Glu1003Ala) c.2993A>C (p.Glu998Ala) | |
17 | g.44372374T= | CA2261364351 | ITGA2B | c.3110A= (p.Glu1037=) c.2424A= c.303A= c.87A= c.3008A= (p.Glu1003=) c.2993A= (p.Glu998=) | |
17 | g.44372376_44372378del | CA8602451 | ITGA2B | c.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 |
17 | g.44372375C>A | CA399787646 | ITGA2B | c.3109G>T (p.Glu1037Ter) c.2423G>T c.302G>T c.86G>T c.3007G>T (p.Glu1003Ter) c.2992G>T (p.Glu998Ter) | |
17 | g.44372375C>G | CA399787650 | ITGA2B | c.3109G>C (p.Glu1037Gln) c.2423G>C c.302G>C c.86G>C c.3007G>C (p.Glu1003Gln) c.2992G>C (p.Glu998Gln) | |
17 | g.44372375C>T | CA399787651 | ITGA2B | c.3109G>A (p.Glu1037Lys) c.2423G>A c.302G>A c.86G>A c.3007G>A (p.Glu1003Lys) c.2992G>A (p.Glu998Lys) | COSMIC |
17 | g.44372376T>A | CA399787654 | ITGA2B | c.3108A>T (p.Glu1036Asp) c.2422A>T c.301A>T c.85A>T c.3006A>T (p.Glu1002Asp) c.2991A>T (p.Glu997Asp) | |
17 | g.44372376T>C | CA500260566 | ITGA2B | c.3108A>G (p.Glu1036=) c.2422A>G c.301A>G c.85A>G c.3006A>G (p.Glu1002=) c.2991A>G (p.Glu997=) | |
17 | g.44372376T>G | CA399787656 | ITGA2B | c.3108A>C (p.Glu1036Asp) c.2422A>C c.301A>C c.85A>C c.3006A>C (p.Glu1002Asp) c.2991A>C (p.Glu997Asp) | |
17 | g.44372376_44372379delinsTTCA | CA2261364352 | ITGA2B | c.3105_3108delinsTGAA (p.Asp1035=) c.2419_2422delinsTGAA c.298_301delinsTGAA c.82_85delinsTGAA c.3003_3006delinsTGAA (p.Asp1001=) c.2988_2991delinsTGAA (p.Asp996=) | |
17 | g.44372377T>A | CA399787661 | ITGA2B | c.3107A>T (p.Glu1036Val) c.2421A>T c.300A>T c.84A>T c.3005A>T (p.Glu1002Val) c.2990A>T (p.Glu997Val) | |
17 | g.44372377T>C | CA399787663 | ITGA2B | c.3107A>G (p.Glu1036Gly) c.2421A>G c.300A>G c.84A>G c.3005A>G (p.Glu1002Gly) c.2990A>G (p.Glu997Gly) | |
17 | g.44372377T>G | CA399787664 | ITGA2B | c.3107A>C (p.Glu1036Ala) c.2421A>C c.300A>C c.84A>C c.3005A>C (p.Glu1002Ala) c.2990A>C (p.Glu997Ala) | |
17 | g.44372382_44372384del | CA8602454 | ITGA2B | c.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 |
17 | g.44372378C>A | CA399787669 | ITGA2B | c.3106G>T (p.Glu1036Ter) c.2420G>T c.299G>T c.83G>T c.3004G>T (p.Glu1002Ter) c.2989G>T (p.Glu997Ter) | |
17 | g.44372378C>G | CA399787670 | ITGA2B | c.3106G>C (p.Glu1036Gln) c.2420G>C c.299G>C c.83G>C c.3004G>C (p.Glu1002Gln) c.2989G>C (p.Glu997Gln) | |
17 | g.44372378C>T | CA399787668 | ITGA2B | c.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 |
17 | g.44372379A= | CA2261364353 | ITGA2B | c.3105T= (p.Asp1035=) c.2419T= c.298T= c.82T= c.3003T= (p.Asp1001=) c.2988T= (p.Asp996=) | |
17 | g.44372379A>C | CA399787672 | ITGA2B | c.3105T>G (p.Asp1035Glu) c.2419T>G c.298T>G c.82T>G c.3003T>G (p.Asp1001Glu) c.2988T>G (p.Asp996Glu) | |
17 | g.44372379A>G | CA500260588 | ITGA2B | c.3105T>C (p.Asp1035=) c.2419T>C c.298T>C c.82T>C c.3003T>C (p.Asp1001=) c.2988T>C (p.Asp996=) | |
17 | g.44372379A>T | CA399787674 | ITGA2B | c.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 |
17 | g.44372380T>A | CA399787678 | ITGA2B | c.3104A>T (p.Asp1035Val) c.2418A>T c.297A>T c.81A>T c.3002A>T (p.Asp1001Val) c.2987A>T (p.Asp996Val) | |
17 | g.44372380T>C | CA399787681 | ITGA2B | c.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 |
17 | g.44372380T>G | CA399787684 | ITGA2B | c.3104A>C (p.Asp1035Ala) c.2418A>C c.297A>C c.81A>C c.3002A>C (p.Asp1001Ala) c.2987A>C (p.Asp996Ala) | |
17 | g.44372380T= | CA2261364354 | ITGA2B | c.3104A= (p.Asp1035=) c.2418A= c.297A= c.81A= c.3002A= (p.Asp1001=) c.2987A= (p.Asp996=) | |
17 | g.44372381C>A | CA399787687 | ITGA2B | c.3103G>T (p.Asp1035Tyr) c.2417G>T c.296G>T c.80G>T c.3001G>T (p.Asp1001Tyr) c.2986G>T (p.Asp996Tyr) | |
17 | g.44372381C>G | CA399787690 | ITGA2B | c.3103G>C (p.Asp1035His) c.2417G>C c.296G>C c.80G>C c.3001G>C (p.Asp1001His) c.2986G>C (p.Asp996His) | |
17 | g.44372381C>T | CA399787693 | ITGA2B | c.3103G>A (p.Asp1035Asn) c.2417G>A c.296G>A c.80G>A c.3001G>A (p.Asp1001Asn) c.2986G>A (p.Asp996Asn) | |
17 | g.44372382A>C | CA399787696 | ITGA2B | c.3102T>G (p.Asp1034Glu) c.2416T>G c.295T>G c.79T>G c.3000T>G (p.Asp1000Glu) c.2985T>G (p.Asp995Glu) | |
17 | g.44372382A>G | CA500260618 | ITGA2B | c.3102T>C (p.Asp1034=) c.2416T>C c.295T>C c.79T>C c.3000T>C (p.Asp1000=) c.2985T>C (p.Asp995=) | |
17 | g.44372382A>T | CA399787701 | ITGA2B | c.3102T>A (p.Asp1034Glu) c.2416T>A c.295T>A c.79T>A c.3000T>A (p.Asp1000Glu) c.2985T>A (p.Asp995Glu) | |
17 | g.44372382_44372385delinsATCT | CA2261364355 | ITGA2B | c.3099_3102delinsAGAT (p.Glu1033=) c.2413_2416delinsAGAT c.292_295delinsAGAT c.76_79delinsAGAT c.2997_3000delinsAGAT (p.Glu999=) c.2982_2985delinsAGAT (p.Glu994=) | |
17 | g.44372383T>A | CA399787704 | ITGA2B | c.3101A>T (p.Asp1034Val) c.2415A>T c.294A>T c.78A>T c.2999A>T (p.Asp1000Val) c.2984A>T (p.Asp995Val) | ClinVar |
17 | g.44372383T>C | CA399787706 | ITGA2B | c.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 |
17 | g.44372383T>G | CA399787709 | ITGA2B | c.3101A>C (p.Asp1034Ala) c.2415A>C c.294A>C c.78A>C c.2999A>C (p.Asp1000Ala) c.2984A>C (p.Asp995Ala) | |
17 | g.44372388_44372390del | CA290942822 | ITGA2B | c.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 |
17 | g.44372384C>A | CA399787715 | ITGA2B | c.3100G>T (p.Asp1034Tyr) c.2414G>T c.293G>T c.77G>T c.2998G>T (p.Asp1000Tyr) c.2983G>T (p.Asp995Tyr) | |
17 | g.44372384C= | CA2261364356 | ITGA2B | c.3100G= (p.Asp1034=) c.2414G= c.293G= c.77G= c.2998G= (p.Asp1000=) c.2983G= (p.Asp995=) | |
17 | g.44372384C>G | CA399787712 | ITGA2B | c.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 |
17 | g.44372384C>T | CA399787711 | ITGA2B | c.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 |
17 | g.44372385T>A | CA290942825 | ITGA2B | c.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 |
17 | g.44372385T>C | CA500260629 | ITGA2B | c.3099A>G (p.Glu1033=) c.2413A>G c.292A>G c.76A>G c.2997A>G (p.Glu999=) c.2982A>G (p.Glu994=) | |
17 | g.44372385T>G | CA399787720 | ITGA2B | c.3099A>C (p.Glu1033Asp) c.2413A>C c.292A>C c.76A>C c.2997A>C (p.Glu999Asp) c.2982A>C (p.Glu994Asp) | |
17 | g.44372385T= | CA2261364357 | ITGA2B | c.3099A= (p.Glu1033=) c.2413A= c.292A= c.76A= c.2997A= (p.Glu999=) c.2982A= (p.Glu994=) | |
17 | g.44372386T>A | CA399787723 | ITGA2B | c.3098A>T (p.Glu1033Val) c.2412A>T c.291A>T c.75A>T c.2996A>T (p.Glu999Val) c.2981A>T (p.Glu994Val) | |
17 | g.44372386T>C | CA399787725 | ITGA2B | c.3098A>G (p.Glu1033Gly) c.2412A>G c.291A>G c.75A>G c.2996A>G (p.Glu999Gly) c.2981A>G (p.Glu994Gly) | |
17 | g.44372386T>G | CA399787728 | ITGA2B | c.3098A>C (p.Glu1033Ala) c.2412A>C c.291A>C c.75A>C c.2996A>C (p.Glu999Ala) c.2981A>C (p.Glu994Ala) | |
17 | g.44372387C>A | CA399787734 | ITGA2B | c.3097G>T (p.Glu1033Ter) c.2411G>T c.290G>T c.74G>T c.2995G>T (p.Glu999Ter) c.2980G>T (p.Glu994Ter) | |
17 | g.44372387C>G | CA399787736 | ITGA2B | c.3097G>C (p.Glu1033Gln) c.2411G>C c.290G>C c.74G>C c.2995G>C (p.Glu999Gln) c.2980G>C (p.Glu994Gln) | |
17 | g.44372387C>T | CA399787739 | ITGA2B | c.3097G>A (p.Glu1033Lys) c.2411G>A c.290G>A c.74G>A c.2995G>A (p.Glu999Lys) c.2980G>A (p.Glu994Lys) | |
17 | g.44372388T>A | CA399787743 | ITGA2B | c.3096A>T (p.Glu1032Asp) c.2410A>T c.289A>T c.73A>T c.2994A>T (p.Glu998Asp) c.2979A>T (p.Glu993Asp) | |
17 | g.44372388T>C | CA290942834 | ITGA2B | c.3096A>G (p.Glu1032=) c.2410A>G c.289A>G c.73A>G c.2994A>G (p.Glu998=) c.2979A>G (p.Glu993=) | dbSNP |
17 | g.44372388T>G | CA399787745 | ITGA2B | c.3096A>C (p.Glu1032Asp) c.2410A>C c.289A>C c.73A>C c.2994A>C (p.Glu998Asp) c.2979A>C (p.Glu993Asp) | |
17 | g.44372388T= | CA2261364358 | ITGA2B | c.3096A= (p.Glu1032=) c.2410A= c.289A= c.73A= c.2994A= (p.Glu998=) c.2979A= (p.Glu993=) | |
17 | g.44372389T>A | CA399787758 | ITGA2B | c.3095A>T (p.Glu1032Val) c.2409A>T c.288A>T c.72A>T c.2993A>T (p.Glu998Val) c.2978A>T (p.Glu993Val) | |
17 | g.44372389T>C | CA399787763 | ITGA2B | c.3095A>G (p.Glu1032Gly) c.2409A>G c.288A>G c.72A>G c.2993A>G (p.Glu998Gly) c.2978A>G (p.Glu993Gly) | |
17 | g.44372389T>G | CA399787766 | ITGA2B | c.3095A>C (p.Glu1032Ala) c.2409A>C c.288A>C c.72A>C c.2993A>C (p.Glu998Ala) c.2978A>C (p.Glu993Ala) | |
17 | g.44372390C>A | CA399787776 | ITGA2B | c.3094G>T (p.Glu1032Ter) c.2408G>T c.287G>T c.71G>T c.2992G>T (p.Glu998Ter) c.2977G>T (p.Glu993Ter) | |
17 | g.44372390C= | CA2261364359 | ITGA2B | c.3094G= (p.Glu1032=) c.2408G= c.287G= c.71G= c.2992G= (p.Glu998=) c.2977G= (p.Glu993=) | |
17 | g.44372390C>G | CA399787777 | ITGA2B | c.3094G>C (p.Glu1032Gln) c.2408G>C c.287G>C c.71G>C c.2992G>C (p.Glu998Gln) c.2977G>C (p.Glu993Gln) | |
17 | g.44372390C>T | CA399787770 | ITGA2B | c.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 |
17 | g.44372391dup | CA915940756 | ITGA2B | c.3094dup (p.Glu1032GlyfsTer4) c.2408dup c.287dup c.71dup c.2992dup (p.Glu998GlyfsTer4) c.2977dup (p.Glu993GlyfsTer4) | |
17 | g.44372391C>A | CA500260675 | ITGA2B | c.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 |
17 | g.44372391C>G | CA500260671 | ITGA2B | c.3093G>C (p.Leu1031=) c.2407G>C c.286G>C c.70G>C c.2991G>C (p.Leu997=) c.2976G>C (p.Leu992=) | |
17 | g.44372391C>T | CA500260674 | ITGA2B | c.3093G>A (p.Leu1031=) c.2407G>A c.286G>A c.70G>A c.2991G>A (p.Leu997=) c.2976G>A (p.Leu992=) | |
17 | g.44372391_44372392dup | CA500260678 | ITGA2B | c.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 |
17 | g.44372391_44372392insCA | CA2837995121 | ITGA2B | c.3092_3093insTG (p.Glu1032GlyfsTer?) c.2406_2407insTG c.285_286insTG c.69_70insTG c.2990_2991insTG (p.Glu998GlyfsTer?) c.2975_2976insTG (p.Glu993GlyfsTer?) | |
17 | g.44372392del | CA915940323 | ITGA2B | c.3092del (p.Leu1031ArgfsTer?) c.2406del c.285del c.69del c.2990del (p.Leu997ArgfsTer?) c.2975del (p.Leu992ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
17 | g.44372392A= | CA2261364360 | ITGA2B | c.3092T= (p.Leu1031=) c.2406T= c.285T= c.69T= c.2990T= (p.Leu997=) c.2975T= (p.Leu992=) | |
17 | g.44372392A>C | CA399787779 | ITGA2B | c.3092T>G (p.Leu1031Arg) c.2406T>G c.285T>G c.69T>G c.2990T>G (p.Leu997Arg) c.2975T>G (p.Leu992Arg) | |
17 | g.44372392A>G | CA8602455 | ITGA2B | c.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 |
17 | g.44372392A>T | CA399787782 | ITGA2B | c.3092T>A (p.Leu1031Gln) c.2406T>A c.285T>A c.69T>A c.2990T>A (p.Leu997Gln) c.2975T>A (p.Leu992Gln) | |
17 | g.44372393G>A | CA500260685 | ITGA2B | c.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 |
17 | g.44372393G>C | CA399787790 | ITGA2B | c.3091C>G (p.Leu1031Val) c.2405C>G c.284C>G c.68C>G c.2989C>G (p.Leu997Val) c.2974C>G (p.Leu992Val) | |
17 | g.44372393G>T | CA399787793 | ITGA2B | c.3091C>A (p.Leu1031Met) c.2405C>A c.284C>A c.68C>A c.2989C>A (p.Leu997Met) c.2974C>A (p.Leu992Met) | |
17 | g.44372396del | CA915940322 | ITGA2B | c.3091del (p.Leu1031TrpfsTer?) c.2405del c.284del c.68del c.2989del (p.Leu997TrpfsTer?) c.2974del (p.Leu992TrpfsTer?) | ClinVar |
17 | g.44372394G>A | CA500260695 | ITGA2B | c.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 |
17 | g.44372394G>C | CA500260696 | ITGA2B | c.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 |
17 | g.44372394G= | CA2261364361 | ITGA2B | c.3090C= (p.Pro1030=) c.2404C= c.283C= c.67C= c.2988C= (p.Pro996=) c.2973C= (p.Pro991=) | |
17 | g.44372394G>T | CA500260697 | ITGA2B | c.3090C>A (p.Pro1030=) c.2404C>A c.283C>A c.67C>A c.2988C>A (p.Pro996=) c.2973C>A (p.Pro991=) | |
17 | g.44372395G>A | CA399787795 | ITGA2B | c.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 |
17 | g.44372395G>C | CA399787798 | ITGA2B | c.3089C>G (p.Pro1030Arg) c.2403C>G c.282C>G c.66C>G c.2987C>G (p.Pro996Arg) c.2972C>G (p.Pro991Arg) | |
17 | g.44372395G>T | CA399787800 | ITGA2B | c.3089C>A (p.Pro1030His) c.2403C>A c.282C>A c.66C>A c.2987C>A (p.Pro996His) c.2972C>A (p.Pro991His) | |
17 | g.44372396G>A | CA8602456 | ITGA2B | c.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 |
17 | g.44372396G>C | CA399787806 | ITGA2B | c.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 |
17 | g.44372396G= | CA2261364362 | ITGA2B | c.3088C= (p.Pro1030=) c.2402C= c.281C= c.65C= c.2986C= (p.Pro996=) c.2971C= (p.Pro991=) | |
17 | g.44372396G>T | CA399787808 | ITGA2B | c.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 |
17 | g.44372397T>A | CA500260706 | ITGA2B | c.3087A>T (p.Pro1029=) c.2401A>T c.280A>T c.64A>T c.2985A>T (p.Pro995=) c.2970A>T (p.Pro990=) | |
17 | g.44372397T>C | CA500260709 | ITGA2B | c.3087A>G (p.Pro1029=) c.2401A>G c.280A>G c.64A>G c.2985A>G (p.Pro995=) c.2970A>G (p.Pro990=) | |
17 | g.44372397T>G | CA500260710 | ITGA2B | c.3087A>C (p.Pro1029=) c.2401A>C c.280A>C c.64A>C c.2985A>C (p.Pro995=) c.2970A>C (p.Pro990=) | |
17 | g.44372398G>A | CA399787818 | ITGA2B | c.3086C>T (p.Pro1029Leu) c.2400C>T c.279C>T c.63C>T c.2984C>T (p.Pro995Leu) c.2969C>T (p.Pro990Leu) | |
17 | g.44372398G>C | CA399787815 | ITGA2B | c.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 |
17 | g.44372398G>T | CA399787813 | ITGA2B | c.3086C>A (p.Pro1029Gln) c.2400C>A c.279C>A c.63C>A c.2984C>A (p.Pro995Gln) c.2969C>A (p.Pro990Gln) | |
17 | g.44372399G>A | CA399787821 | ITGA2B | c.3085C>T (p.Pro1029Ser) c.2399C>T c.278C>T c.62C>T c.2983C>T (p.Pro995Ser) c.2968C>T (p.Pro990Ser) | |
17 | g.44372399G>C | CA399787824 | ITGA2B | c.3085C>G (p.Pro1029Ala) c.2399C>G c.278C>G c.62C>G c.2983C>G (p.Pro995Ala) c.2968C>G (p.Pro990Ala) | |
17 | g.44372399G= | CA2261364363 | ITGA2B | c.3085C= (p.Pro1029=) c.2399C= c.278C= c.62C= c.2983C= (p.Pro995=) c.2968C= (p.Pro990=) | |
17 | g.44372399G>T | CA399787827 | ITGA2B | c.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 |
17 | g.44372400C>A | CA500260721 | ITGA2B | c.3084G>T (p.Arg1028=) c.2398G>T c.277G>T c.61G>T c.2982G>T (p.Arg994=) c.2967G>T (p.Arg989=) | |
17 | g.44372400C>G | CA500260722 | ITGA2B | c.3084G>C (p.Arg1028=) c.2398G>C c.277G>C c.61G>C c.2982G>C (p.Arg994=) c.2967G>C (p.Arg989=) | |
17 | g.44372400C>T | CA500260724 | ITGA2B | c.3084G>A (p.Arg1028=) c.2398G>A c.277G>A c.61G>A c.2982G>A (p.Arg994=) c.2967G>A (p.Arg989=) | COSMIC |
17 | g.44372401C>A | CA399787831 | ITGA2B | c.3083G>T (p.Arg1028Leu) c.2397G>T c.276G>T c.60G>T c.2981G>T (p.Arg994Leu) c.2966G>T (p.Arg989Leu) | |
17 | g.44372401C= | CA2261364364 | ITGA2B | c.3083G= (p.Arg1028=) c.2397G= c.276G= c.60G= c.2981G= (p.Arg994=) c.2966G= (p.Arg989=) | |
17 | g.44372401C>G | CA399787834 | ITGA2B | c.3083G>C (p.Arg1028Pro) c.2397G>C c.276G>C c.60G>C c.2981G>C (p.Arg994Pro) c.2966G>C (p.Arg989Pro) | |
17 | g.44372401C>T | CA8602457 | ITGA2B | c.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 |
17 | g.44372402G>A | CA8602458 | ITGA2B | c.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 |
17 | g.44372402G>C | CA399787837 | ITGA2B | c.3082C>G (p.Arg1028Gly) c.2396C>G c.275C>G c.59C>G c.2980C>G (p.Arg994Gly) c.2965C>G (p.Arg989Gly) | |
17 | g.44372402G= | CA2261364365 | ITGA2B | c.3082C= (p.Arg1028=) c.2396C= c.275C= c.59C= c.2980C= (p.Arg994=) c.2965C= (p.Arg989=) | |
17 | g.44372402G>T | CA500260727 | ITGA2B | c.3082C>A (p.Arg1028=) c.2396C>A c.275C>A c.59C>A c.2980C>A (p.Arg994=) c.2965C>A (p.Arg989=) | |
17 | g.44372403G>A | CA500260732 | ITGA2B | c.3081C>T (p.Asn1027=) c.2395C>T c.274C>T c.58C>T c.2979C>T (p.Asn993=) c.2964C>T (p.Asn988=) | |
17 | g.44372403G>C | CA399787839 | ITGA2B | c.3081C>G (p.Asn1027Lys) c.2395C>G c.274C>G c.58C>G c.2979C>G (p.Asn993Lys) c.2964C>G (p.Asn988Lys) | |
17 | g.44372403G>T | CA399787840 | ITGA2B | c.3081C>A (p.Asn1027Lys) c.2395C>A c.274C>A c.58C>A c.2979C>A (p.Asn993Lys) c.2964C>A (p.Asn988Lys) | |
17 | g.44372404T>A | CA399787842 | ITGA2B | c.3080A>T (p.Asn1027Ile) c.2394A>T c.273A>T c.57A>T c.2978A>T (p.Asn993Ile) c.2963A>T (p.Asn988Ile) | |
17 | g.44372404T>C | CA399787843 | ITGA2B | c.3080A>G (p.Asn1027Ser) c.2394A>G c.273A>G c.57A>G c.2978A>G (p.Asn993Ser) c.2963A>G (p.Asn988Ser) | |
17 | g.44372404T>G | CA399787844 | ITGA2B | c.3080A>C (p.Asn1027Thr) c.2394A>C c.273A>C c.57A>C c.2978A>C (p.Asn993Thr) c.2963A>C (p.Asn988Thr) | |
17 | g.44372405T>A | CA399787849 | ITGA2B | c.3079A>T (p.Asn1027Tyr) c.2393A>T c.272A>T c.56A>T c.2977A>T (p.Asn993Tyr) c.2962A>T (p.Asn988Tyr) | |
17 | g.44372405T>C | CA399787852 | ITGA2B | c.3079A>G (p.Asn1027Asp) c.2393A>G c.272A>G c.56A>G c.2977A>G (p.Asn993Asp) c.2962A>G (p.Asn988Asp) | |
17 | g.44372405T>G | CA399787847 | ITGA2B | c.3079A>C (p.Asn1027His) c.2393A>C c.272A>C c.56A>C c.2977A>C (p.Asn993His) c.2962A>C (p.Asn988His) | |
17 | g.44372406C>A | CA500260746 | ITGA2B | c.3078G>T (p.Arg1026=) c.2392G>T c.271G>T c.55G>T c.2976G>T (p.Arg992=) c.2961G>T (p.Arg987=) | |
17 | g.44372406C>G | CA500260749 | ITGA2B | c.3078G>C (p.Arg1026=) c.2392G>C c.271G>C c.55G>C c.2976G>C (p.Arg992=) c.2961G>C (p.Arg987=) | |
17 | g.44372406C>T | CA500260752 | ITGA2B | c.3078G>A (p.Arg1026=) c.2392G>A c.271G>A c.55G>A c.2976G>A (p.Arg992=) c.2961G>A (p.Arg987=) | COSMIC |
17 | g.44372407C>A | CA399787855 | ITGA2B | c.3077G>T (p.Arg1026Leu) c.2391G>T c.270G>T c.54G>T c.2975G>T (p.Arg992Leu) c.2960G>T (p.Arg987Leu) | ClinVar |
17 | g.44372407C= | CA2261364366 | ITGA2B | c.3077G= (p.Arg1026=) c.2391G= c.270G= c.54G= c.2975G= (p.Arg992=) c.2960G= (p.Arg987=) | |
17 | g.44372407C>G | CA399787853 | ITGA2B | c.3077G>C (p.Arg1026Pro) c.2391G>C c.270G>C c.54G>C c.2975G>C (p.Arg992Pro) c.2960G>C (p.Arg987Pro) | |
17 | g.44372407C>T | CA10575572 | ITGA2B | c.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 |
17 | g.44372407_44372408delinsCG | CA2261364367 | ITGA2B | c.3076_3077delinsCG (p.Arg1026=) c.2390_2391delinsCG c.269_270delinsCG c.53_54delinsCG c.2974_2975delinsCG (p.Arg992=) c.2959_2960delinsCG (p.Arg987=) | |
17 | g.44372407_44372408delinsGC | CA915940802 | ITGA2B | c.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 |
17 | g.44372408G>A | CA10575573 | ITGA2B | c.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 |
17 | g.44372408G>C | CA399787861 | ITGA2B | c.3076C>G (p.Arg1026Gly) c.2390C>G c.269C>G c.53C>G c.2974C>G (p.Arg992Gly) c.2959C>G (p.Arg987Gly) | |
17 | g.44372408G= | CA2261364368 | ITGA2B | c.3076C= (p.Arg1026=) c.2390C= c.269C= c.53C= c.2974C= (p.Arg992=) c.2959C= (p.Arg987=) | |
17 | g.44372408G>T | CA8602459 | ITGA2B | c.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 |
17 | g.44372409C>A | CA399787866 | ITGA2B | c.3075G>T (p.Lys1025Asn) c.2389G>T c.268G>T c.52G>T c.2973G>T (p.Lys991Asn) c.2958G>T (p.Lys986Asn) | |
17 | g.44372409C>G | CA399787867 | ITGA2B | c.3075G>C (p.Lys1025Asn) c.2389G>C c.268G>C c.52G>C c.2973G>C (p.Lys991Asn) c.2958G>C (p.Lys986Asn) | |
17 | g.44372409C>T | CA500260767 | ITGA2B | c.3075G>A (p.Lys1025=) c.2389G>A c.268G>A c.52G>A c.2973G>A (p.Lys991=) c.2958G>A (p.Lys986=) | |
17 | g.44372410T>A | CA399787873 | ITGA2B | c.3074A>T (p.Lys1025Met) c.2388A>T c.267A>T c.51A>T c.2972A>T (p.Lys991Met) c.2957A>T (p.Lys986Met) | |
17 | g.44372410T>C | CA399787880 | ITGA2B | c.3074A>G (p.Lys1025Arg) c.2388A>G c.267A>G c.51A>G c.2972A>G (p.Lys991Arg) c.2957A>G (p.Lys986Arg) | |
17 | g.44372410T>G | CA399787883 | ITGA2B | c.3074A>C (p.Lys1025Thr) c.2388A>C c.267A>C c.51A>C c.2972A>C (p.Lys991Thr) c.2957A>C (p.Lys986Thr) | |
17 | g.44372411T>A | CA399787886 | ITGA2B | c.3073A>T (p.Lys1025Ter) c.2387A>T c.266A>T c.50A>T c.2971A>T (p.Lys991Ter) c.2956A>T (p.Lys986Ter) | |
17 | g.44372411T>C | CA399787889 | ITGA2B | c.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 |
17 | g.44372411T>G | CA399787892 | ITGA2B | c.3073A>C (p.Lys1025Gln) c.2387A>C c.266A>C c.50A>C c.2971A>C (p.Lys991Gln) c.2956A>C (p.Lys986Gln) | |
17 | g.44372411T= | CA2261364370 | ITGA2B | c.3073A= (p.Lys1025=) c.2387A= c.266A= c.50A= c.2971A= (p.Lys991=) c.2956A= (p.Lys986=) | |
17 | g.44372411_44372414delinsTGAA | CA2261364369 | ITGA2B | c.3070_3073delinsTTCA (p.Phe1024=) c.2384_2387delinsTTCA c.263_266delinsTTCA c.47_50delinsTTCA c.2968_2971delinsTTCA (p.Phe990=) c.2953_2956delinsTTCA (p.Phe985=) | |
17 | g.44372412G>A | CA500260789 | ITGA2B | c.3072C>T (p.Phe1024=) c.2386C>T c.265C>T c.49C>T c.2970C>T (p.Phe990=) c.2955C>T (p.Phe985=) | |
17 | g.44372412G>C | CA399787894 | ITGA2B | c.3072C>G (p.Phe1024Leu) c.2386C>G c.265C>G c.49C>G c.2970C>G (p.Phe990Leu) c.2955C>G (p.Phe985Leu) | |
17 | g.44372412G>T | CA399787895 | ITGA2B | c.3072C>A (p.Phe1024Leu) c.2386C>A c.265C>A c.49C>A c.2970C>A (p.Phe990Leu) c.2955C>A (p.Phe985Leu) | |
17 | g.44372416_44372418del | CA8602460 | ITGA2B | c.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 |
17 | g.44372413A>C | CA399787902 | ITGA2B | c.3071T>G (p.Phe1024Cys) c.2385T>G c.264T>G c.48T>G c.2969T>G (p.Phe990Cys) c.2954T>G (p.Phe985Cys) | |
17 | g.44372413A>G | CA399787897 | ITGA2B | c.3071T>C (p.Phe1024Ser) c.2385T>C c.264T>C c.48T>C c.2969T>C (p.Phe990Ser) c.2954T>C (p.Phe985Ser) | |
17 | g.44372413A>T | CA399787899 | ITGA2B | c.3071T>A (p.Phe1024Tyr) c.2385T>A c.264T>A c.48T>A c.2969T>A (p.Phe990Tyr) c.2954T>A (p.Phe985Tyr) | |
17 | g.44372414A= | CA2261364371 | ITGA2B | c.3070T= (p.Phe1024=) c.2384T= c.263T= c.47T= c.2968T= (p.Phe990=) c.2953T= (p.Phe985=) | |
17 | g.44372414A>C | CA399787905 | ITGA2B | c.3070T>G (p.Phe1024Val) c.2384T>G c.263T>G c.47T>G c.2968T>G (p.Phe990Val) c.2953T>G (p.Phe985Val) | |
17 | g.44372414A>G | CA399787907 | ITGA2B | c.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 |
17 | g.44372414A>T | CA399787909 | ITGA2B | c.3070T>A (p.Phe1024Ile) c.2384T>A c.263T>A c.47T>A c.2968T>A (p.Phe990Ile) c.2953T>A (p.Phe985Ile) | ClinVar |
17 | g.44372415G>A | CA500260800 | ITGA2B | c.3069C>T (p.Phe1023=) c.2383C>T c.262C>T c.46C>T c.2967C>T (p.Phe989=) c.2952C>T (p.Phe984=) | |
17 | g.44372415G>C | CA399787913 | ITGA2B | c.3069C>G (p.Phe1023Leu) c.2383C>G c.262C>G c.46C>G c.2967C>G (p.Phe989Leu) c.2952C>G (p.Phe984Leu) | |
17 | g.44372415G>T | CA399787916 | ITGA2B | c.3069C>A (p.Phe1023Leu) c.2383C>A c.262C>A c.46C>A c.2967C>A (p.Phe989Leu) c.2952C>A (p.Phe984Leu) | |
17 | g.44372416A>C | CA399787918 | ITGA2B | c.3068T>G (p.Phe1023Cys) c.2382T>G c.261T>G c.45T>G c.2966T>G (p.Phe989Cys) c.2951T>G (p.Phe984Cys) | |
17 | g.44372416A>G | CA399787922 | ITGA2B | c.3068T>C (p.Phe1023Ser) c.2382T>C c.261T>C c.45T>C c.2966T>C (p.Phe989Ser) c.2951T>C (p.Phe984Ser) | |
17 | g.44372416A>T | CA399787925 | ITGA2B | c.3068T>A (p.Phe1023Tyr) c.2382T>A c.261T>A c.45T>A c.2966T>A (p.Phe989Tyr) c.2951T>A (p.Phe984Tyr) | |
17 | g.44372417A>C | CA399787931 | ITGA2B | c.3067T>G (p.Phe1023Val) c.2381T>G c.260T>G c.44T>G c.2965T>G (p.Phe989Val) c.2950T>G (p.Phe984Val) | |
17 | g.44372417A>G | CA399787933 | ITGA2B | c.3067T>C (p.Phe1023Leu) c.2381T>C c.260T>C c.44T>C c.2965T>C (p.Phe989Leu) c.2950T>C (p.Phe984Leu) | |
17 | g.44372417A>T | CA399787935 | ITGA2B | c.3067T>A (p.Phe1023Ile) c.2381T>A c.260T>A c.44T>A c.2965T>A (p.Phe989Ile) c.2950T>A (p.Phe984Ile) | |
17 | g.44372418G>A | CA500260815 | ITGA2B | c.3066C>T (p.Gly1022=) c.2380C>T c.259C>T c.43C>T c.2964C>T (p.Gly988=) c.2949C>T (p.Gly983=) | |
17 | g.44372418G>C | CA500260817 | ITGA2B | c.3066C>G (p.Gly1022=) c.2380C>G c.259C>G c.43C>G c.2964C>G (p.Gly988=) c.2949C>G (p.Gly983=) | |
17 | g.44372418G>T | CA500260816 | ITGA2B | c.3066C>A (p.Gly1022=) c.2380C>A c.259C>A c.43C>A c.2964C>A (p.Gly988=) c.2949C>A (p.Gly983=) | |
17 | g.44372419C>A | CA399787941 | ITGA2B | c.3065G>T (p.Gly1022Val) c.2379G>T c.258G>T c.42G>T c.2963G>T (p.Gly988Val) c.2948G>T (p.Gly983Val) | |
17 | g.44372419C>G | CA399787942 | ITGA2B | c.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 |
17 | g.44372419C>T | CA399787940 | ITGA2B | c.3065G>A (p.Gly1022Asp) c.2379G>A c.258G>A c.42G>A c.2963G>A (p.Gly988Asp) c.2948G>A (p.Gly983Asp) | |
17 | g.44372420C>A | CA399787943 | ITGA2B | c.3064G>T (p.Gly1022Cys) c.2378G>T c.257G>T c.41G>T c.2962G>T (p.Gly988Cys) c.2947G>T (p.Gly983Cys) | |
17 | g.44372420C= | CA2261364372 | ITGA2B | c.3064G= (p.Gly1022=) c.2378G= c.257G= c.41G= c.2962G= (p.Gly988=) c.2947G= (p.Gly983=) | |
17 | g.44372420C>G | CA399787944 | ITGA2B | c.3064G>C (p.Gly1022Arg) c.2378G>C c.257G>C c.41G>C c.2962G>C (p.Gly988Arg) c.2947G>C (p.Gly983Arg) | dbSNP |
17 | g.44372420C>T | CA399787952 | ITGA2B | c.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 |
17 | g.44372421del | CA645584247 | ITGA2B | c.3063del (p.Gly1022AlafsTer?) c.2377del c.256del c.40del c.2961del (p.Gly988AlafsTer?) c.2946del (p.Gly983AlafsTer?) | gnomAD v4 COSMIC |
17 | g.44372421G>A | CA8602461 | ITGA2B | c.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 |
17 | g.44372421G>C | CA500260836 | ITGA2B | c.3063C>G (p.Val1021=) c.2377C>G c.256C>G c.40C>G c.2961C>G (p.Val987=) c.2946C>G (p.Val982=) | |
17 | g.44372421G= | CA2261364373 | ITGA2B | c.3063C= (p.Val1021=) c.2377C= c.256C= c.40C= c.2961C= (p.Val987=) c.2946C= (p.Val982=) | |
17 | g.44372421G>T | CA500260838 | ITGA2B | c.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 |
17 | g.44372422A>C | CA399787954 | ITGA2B | c.3062T>G (p.Val1021Gly) c.2376T>G c.255T>G c.39T>G c.2960T>G (p.Val987Gly) c.2945T>G (p.Val982Gly) | |
17 | g.44372422A>G | CA399787956 | ITGA2B | c.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 |
17 | g.44372422A>T | CA399787958 | ITGA2B | c.3062T>A (p.Val1021Asp) c.2376T>A c.255T>A c.39T>A c.2960T>A (p.Val987Asp) c.2945T>A (p.Val982Asp) | |
17 | g.44372423C>A | CA8602462 | ITGA2B | c.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 |
17 | g.44372423C= | CA2261364374 | ITGA2B | c.3061G= (p.Val1021=) c.2375G= c.254G= c.38G= c.2959G= (p.Val987=) c.2944G= (p.Val982=) | |
17 | g.44372423C>G | CA399787962 | ITGA2B | c.3061G>C (p.Val1021Leu) c.2375G>C c.254G>C c.38G>C c.2959G>C (p.Val987Leu) c.2944G>C (p.Val982Leu) | |
17 | g.44372423C>T | CA399787966 | ITGA2B | c.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 |
17 | g.44372424C>A | CA399787969 | ITGA2B | c.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) | |
17 | g.44372424C>G | CA399787971 | ITGA2B | c.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 |
17 | g.44372424C>T | CA399787972 | ITGA2B | c.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 |
17 | g.44372425T>A | CA399787977 | ITGA2B | c.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) | |
17 | g.44372425T>C | CA399787975 | ITGA2B | c.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) | |
17 | g.44372425T>G | CA399787973 | ITGA2B | c.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) | |
17 | g.44372425_44372426delinsTG | CA2261364375 | ITGA2B | c.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) | |
17 | g.44372426G>A | CA8602463 | ITGA2B | c.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 |
17 | g.44372426G= | CA2261364376 | ITGA2B | c.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=) | |
17 | g.44372430del | CA626119012 | ITGA2B | c.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 |
17 | g.44372427G>A | CA8602464 | ITGA2B | c.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 |
17 | g.44372427G= | CA2261364377 | ITGA2B | c.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=) | |
17 | g.44372427G>T | CA2638212670 | ITGA2B | c.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 |
17 | g.44372428G>A | CA8602465 | ITGA2B | c.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 |
17 | g.44372428G= | CA2261364378 | ITGA2B | c.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=) | |
17 | g.44372428G>T | CA2261364379 | ITGA2B | c.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 |
17 | g.44372429G>A | CA626119018 | ITGA2B | c.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 |
17 | g.44372429G>C | CA915940801 | ITGA2B | c.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 |
17 | g.44372429G= | CA2261364380 | ITGA2B | c.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=) | |
17 | g.44372430G>A | CA626119033 | ITGA2B | c.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 |
17 | g.44372430G>C | CA290942869 | ITGA2B | c.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 |
17 | g.44372430G= | CA2261364381 | ITGA2B | c.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=) | |
17 | g.44372430G>T | CA8602466 | ITGA2B | c.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 |
17 | g.44372431T>C | CA2576290831 | ITGA2B | c.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) | |
17 | g.44372431T>G | CA2638212691 | ITGA2B | c.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 |
17 | g.44372432A>G | CA2576290832 | ITGA2B | c.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) | |
17 | g.44372433C>G | CA2638212696 | ITGA2B | c.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 |
17 | g.44372434A= | CA2261364382 | ITGA2B | c.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=) | |
17 | g.44372434A>G | CA2261364383 | ITGA2B | c.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 |
17 | g.44372434_44372435insGAGTTGGGGTGGTAGGTGTAACAGAAGACGGAGAGCC | CA2809589679 | ITGA2B | c.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) | |
17 | g.44372435C= | CA2261364384 | ITGA2B | c.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=) | |
17 | g.44372435C>T | CA8602467 | ITGA2B | c.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 |
17 | g.44372436G>A | CA8602468 | ITGA2B | c.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 |
17 | g.44372436G>C | CA2638212704 | ITGA2B | c.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 |
17 | g.44372436G= | CA2261364385 | ITGA2B | c.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=) | |
17 | g.44372437G>C | CA8602469 | ITGA2B | c.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 |
17 | g.44372437G= | CA2261364386 | ITGA2B | c.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=) | |
17 | g.44372438G>A | CA2638212711 | ITGA2B | c.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 |
17 | g.44372438G>C | CA2576290833 | ITGA2B | c.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) | |
17 | g.44372439G>A | CA2638212715 | ITGA2B | c.3061-16C>T (n.3061-16C>T) c.2375-16C>T c.254-16C>T c.38-16C>T c.2959-16C>T (n.2959-16C>T) c.2944-16C>T (n.2944-16C>T) | gnomAD v4 |
17 | g.44372440G>A | CA2261364388 | ITGA2B | c.3061-17C>T (n.3061-17C>T) c.2375-17C>T c.254-17C>T c.38-17C>T c.2959-17C>T (n.2959-17C>T) c.2944-17C>T (n.2944-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372440G= | CA2261364387 | ITGA2B | c.3061-17C= (n.3061-17C=) c.2375-17C= c.254-17C= c.38-17C= c.2959-17C= (n.2959-17C=) c.2944-17C= (n.2944-17C=) | |
17 | g.44372440G>T | CA2638212719 | ITGA2B | c.3061-17C>A (n.3061-17C>A) c.2375-17C>A c.254-17C>A c.38-17C>A c.2959-17C>A (n.2959-17C>A) c.2944-17C>A (n.2944-17C>A) | gnomAD v4 |
17 | g.44372441C= | CA2261364389 | ITGA2B | c.3061-18G= (n.3061-18G=) c.2375-18G= c.254-18G= c.38-18G= c.2959-18G= (n.2959-18G=) c.2944-18G= (n.2944-18G=) | |
17 | g.44372441C>T | CA8602470 | ITGA2B | c.3061-18G>A (n.3061-18G>A) c.2375-18G>A c.254-18G>A c.38-18G>A c.2959-18G>A (n.2959-18G>A) c.2944-18G>A (n.2944-18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44372443A>C | CA2638212734 | ITGA2B | c.3061-20T>G (n.3061-20T>G) c.2375-20T>G c.254-20T>G c.38-20T>G c.2959-20T>G (n.2959-20T>G) c.2944-20T>G (n.2944-20T>G) | gnomAD v4 |
17 | g.44372443A>G | CA2638212735 | ITGA2B | c.3061-20T>C (n.3061-20T>C) c.2375-20T>C c.254-20T>C c.38-20T>C c.2959-20T>C (n.2959-20T>C) c.2944-20T>C (n.2944-20T>C) | gnomAD v4 |
17 | g.44372444A= | CA2261364390 | ITGA2B | c.3061-21T= (n.3061-21T=) c.2375-21T= c.254-21T= c.38-21T= c.2959-21T= (n.2959-21T=) c.2944-21T= (n.2944-21T=) | |
17 | g.44372444A>G | CA626119042 | ITGA2B | c.3061-21T>C (n.3061-21T>C) c.2375-21T>C c.254-21T>C c.38-21T>C c.2959-21T>C (n.2959-21T>C) c.2944-21T>C (n.2944-21T>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372445G>A | CA8602471 | ITGA2B | c.3061-22C>T (n.3061-22C>T) c.2375-22C>T c.254-22C>T c.38-22C>T c.2959-22C>T (n.2959-22C>T) c.2944-22C>T (n.2944-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372445G= | CA2261364391 | ITGA2B | c.3061-22C= (n.3061-22C=) c.2375-22C= c.254-22C= c.38-22C= c.2959-22C= (n.2959-22C=) c.2944-22C= (n.2944-22C=) | |
17 | g.44372446G>A | CA2638212741 | ITGA2B | c.3061-23C>T (n.3061-23C>T) c.2375-23C>T c.254-23C>T c.38-23C>T c.2959-23C>T (n.2959-23C>T) c.2944-23C>T (n.2944-23C>T) | gnomAD v4 |
17 | g.44372446G>C | CA2638212742 | ITGA2B | c.3061-23C>G (n.3061-23C>G) c.2375-23C>G c.254-23C>G c.38-23C>G c.2959-23C>G (n.2959-23C>G) c.2944-23C>G (n.2944-23C>G) | gnomAD v4 |
17 | g.44372446G>T | CA2638212743 | ITGA2B | c.3061-23C>A (n.3061-23C>A) c.2375-23C>A c.254-23C>A c.38-23C>A c.2959-23C>A (n.2959-23C>A) c.2944-23C>A (n.2944-23C>A) | gnomAD v4 |
17 | g.44372448C>G | CA2638212746 | ITGA2B | c.3061-25G>C (n.3061-25G>C) c.2375-25G>C c.254-25G>C c.38-25G>C c.2959-25G>C (n.2959-25G>C) c.2944-25G>C (n.2944-25G>C) | gnomAD v4 |
17 | g.44372450G>A | CA8602472 | ITGA2B | c.3061-27C>T (n.3061-27C>T) c.2375-27C>T c.254-27C>T c.38-27C>T c.2959-27C>T (n.2959-27C>T) c.2944-27C>T (n.2944-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372450G>C | CA2261364393 | ITGA2B | c.3061-27C>G (n.3061-27C>G) c.2375-27C>G c.254-27C>G c.38-27C>G c.2959-27C>G (n.2959-27C>G) c.2944-27C>G (n.2944-27C>G) | dbSNP |
17 | g.44372450G= | CA2261364392 | ITGA2B | c.3061-27C= (n.3061-27C=) c.2375-27C= c.254-27C= c.38-27C= c.2959-27C= (n.2959-27C=) c.2944-27C= (n.2944-27C=) | |
17 | g.44372451G>C | CA290942926 | ITGA2B | c.3061-28C>G (n.3061-28C>G) c.2375-28C>G c.254-28C>G c.38-28C>G c.2959-28C>G (n.2959-28C>G) c.2944-28C>G (n.2944-28C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372451G= | CA2261364394 | ITGA2B | c.3061-28C= (n.3061-28C=) c.2375-28C= c.254-28C= c.38-28C= c.2959-28C= (n.2959-28C=) c.2944-28C= (n.2944-28C=) | |
17 | g.44372452G>C | CA2638212748 | ITGA2B | c.3061-29C>G (n.3061-29C>G) c.2375-29C>G c.254-29C>G c.38-29C>G c.2959-29C>G (n.2959-29C>G) c.2944-29C>G (n.2944-29C>G) | gnomAD v4 |
17 | g.44372452G>T | CA2638212750 | ITGA2B | c.3061-29C>A (n.3061-29C>A) c.2375-29C>A c.254-29C>A c.38-29C>A c.2959-29C>A (n.2959-29C>A) c.2944-29C>A (n.2944-29C>A) | gnomAD v4 |
17 | g.44372453T>C | CA626119046 | ITGA2B | c.3061-30A>G (n.3061-30A>G) c.2375-30A>G c.254-30A>G c.38-30A>G c.2959-30A>G (n.2959-30A>G) c.2944-30A>G (n.2944-30A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372453T= | CA2261364395 | ITGA2B | c.3061-30A= (n.3061-30A=) c.2375-30A= c.254-30A= c.38-30A= c.2959-30A= (n.2959-30A=) c.2944-30A= (n.2944-30A=) | |
17 | g.44372455T>C | CA2638212751 | ITGA2B | c.3061-32A>G (n.3061-32A>G) c.2375-32A>G c.254-32A>G c.38-32A>G c.2959-32A>G (n.2959-32A>G) c.2944-32A>G (n.2944-32A>G) | gnomAD v4 |
17 | g.44372456A>G | CA500260878 | ITGA2B | c.3061-33T>C (n.3061-33T>C) c.2375-33T>C c.254-33T>C c.38-33T>C c.2959-33T>C (n.2959-33T>C) c.2944-33T>C (n.2944-33T>C) | dbSNP gnomAD v4 |
17 | g.44372457C>A | CA2594317833 | ITGA2B | c.3061-34G>T (n.3061-34G>T) c.2375-34G>T c.254-34G>T c.38-34G>T c.2959-34G>T (n.2959-34G>T) c.2944-34G>T (n.2944-34G>T) | gnomAD v3 gnomAD v4 |
17 | g.44372457C>G | CA2638212753 | ITGA2B | c.3061-34G>C (n.3061-34G>C) c.2375-34G>C c.254-34G>C c.38-34G>C c.2959-34G>C (n.2959-34G>C) c.2944-34G>C (n.2944-34G>C) | gnomAD v4 |
17 | g.44372459G>T | CA2638212759 | ITGA2B | c.3061-36C>A (n.3061-36C>A) c.2375-36C>A c.254-36C>A c.38-36C>A c.2959-36C>A (n.2959-36C>A) c.2944-36C>A (n.2944-36C>A) | gnomAD v4 |
17 | g.44372460A>T | CA2638212761 | ITGA2B | c.3061-37T>A (n.3061-37T>A) c.2375-37T>A c.254-37T>A c.38-37T>A c.2959-37T>A (n.2959-37T>A) c.2944-37T>A (n.2944-37T>A) | gnomAD v4 |
17 | g.44372462G>T | CA2638212763 | ITGA2B | c.3061-39C>A (n.3061-39C>A) c.2375-39C>A c.254-39C>A c.38-39C>A c.2959-39C>A (n.2959-39C>A) c.2944-39C>A (n.2944-39C>A) | gnomAD v4 |
17 | g.44372463A= | CA2261364396 | ITGA2B | c.3061-40T= (n.3061-40T=) c.2375-40T= c.254-40T= c.38-40T= c.2959-40T= (n.2959-40T=) c.2944-40T= (n.2944-40T=) | |
17 | g.44372463A>G | CA2261364397 | ITGA2B | c.3061-40T>C (n.3061-40T>C) c.2375-40T>C c.254-40T>C c.38-40T>C c.2959-40T>C (n.2959-40T>C) c.2944-40T>C (n.2944-40T>C) | dbSNP |
17 | g.44372464T>A | CA8602473 | ITGA2B | c.3061-41A>T (n.3061-41A>T) c.2375-41A>T c.254-41A>T c.38-41A>T c.2959-41A>T (n.2959-41A>T) c.2944-41A>T (n.2944-41A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372464T= | CA2261364398 | ITGA2B | c.3061-41A= (n.3061-41A=) c.2375-41A= c.254-41A= c.38-41A= c.2959-41A= (n.2959-41A=) c.2944-41A= (n.2944-41A=) | |
17 | g.44372466del | CA2809589680 | ITGA2B | c.3061-41del (n.3061-41del) c.2375-41del c.254-41del c.38-41del c.2959-41del (n.2959-41del) c.2944-41del (n.2944-41del) | |
17 | g.44372467G>T | CA2638212769 | ITGA2B | c.3061-44C>A (n.3061-44C>A) c.2375-44C>A c.254-44C>A c.38-44C>A c.2959-44C>A (n.2959-44C>A) c.2944-44C>A (n.2944-44C>A) | gnomAD v4 |
17 | g.44372468C= | CA2261364399 | ITGA2B | c.3061-45G= (n.3061-45G=) c.2375-45G= c.254-45G= c.38-45G= c.2959-45G= (n.2959-45G=) c.2944-45G= (n.2944-45G=) | |
17 | g.44372468C>T | CA626119055 | ITGA2B | c.3061-45G>A (n.3061-45G>A) c.2375-45G>A c.254-45G>A c.38-45G>A c.2959-45G>A (n.2959-45G>A) c.2944-45G>A (n.2944-45G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372469T>A | CA2638212774 | ITGA2B | c.3061-46A>T (n.3061-46A>T) c.2375-46A>T c.254-46A>T c.38-46A>T c.2959-46A>T (n.2959-46A>T) c.2944-46A>T (n.2944-46A>T) | gnomAD v4 |
17 | g.44372469T>C | CA2576290834 | ITGA2B | c.3061-46A>G (n.3061-46A>G) c.2375-46A>G c.254-46A>G c.38-46A>G c.2959-46A>G (n.2959-46A>G) c.2944-46A>G (n.2944-46A>G) |