Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44374864A>G | CA2638214919 | ITGA2B | c.2842-104T>C (n.2842-104T>C) c.2273-104T>C c.253+969T>C n.2249T>C c.2841+134T>C (n.2841+134T>C) | gnomAD v4 |
17 | g.44374866C>T | CA2638214920 | ITGA2B | c.2842-106G>A (n.2842-106G>A) c.2273-106G>A c.253+967G>A n.2247G>A c.2841+132G>A (n.2841+132G>A) | gnomAD v4 |
17 | g.44374867C>T | CA2809589778 | ITGA2B | c.2842-107G>A (n.2842-107G>A) c.2273-107G>A c.253+966G>A n.2246G>A c.2841+131G>A (n.2841+131G>A) | |
17 | g.44374868C>A | CA2638214921 | ITGA2B | c.2842-108G>T (n.2842-108G>T) c.2273-108G>T c.253+965G>T n.2245G>T c.2841+130G>T (n.2841+130G>T) | gnomAD v4 |
17 | g.44374868C= | CA2261365450 | ITGA2B | c.2842-108G= (n.2842-108G=) c.2273-108G= c.253+965G= n.2245G= c.2841+130G= (n.2841+130G=) | |
17 | g.44374868C>T | CA290946369 | ITGA2B | c.2842-108G>A (n.2842-108G>A) c.2273-108G>A c.253+965G>A n.2245G>A c.2841+130G>A (n.2841+130G>A) | dbSNP gnomAD v4 |
17 | g.44374869A= | CA2261365451 | ITGA2B | c.2842-109T= (n.2842-109T=) c.2273-109T= c.253+964T= n.2244T= c.2841+129T= (n.2841+129T=) | |
17 | g.44374869A>G | CA2638214922 | ITGA2B | c.2842-109T>C (n.2842-109T>C) c.2273-109T>C c.253+964T>C n.2244T>C c.2841+129T>C (n.2841+129T>C) | gnomAD v4 |
17 | g.44374869A>T | CA2261365452 | ITGA2B | c.2842-109T>A (n.2842-109T>A) c.2273-109T>A c.253+964T>A n.2244T>A c.2841+129T>A (n.2841+129T>A) | dbSNP gnomAD v4 |
17 | g.44374870C>A | CA2638214923 | ITGA2B | c.2842-110G>T (n.2842-110G>T) c.2273-110G>T c.253+963G>T n.2243G>T c.2841+128G>T (n.2841+128G>T) | gnomAD v4 |
17 | g.44374870C= | CA2261365453 | ITGA2B | c.2842-110G= (n.2842-110G=) c.2273-110G= c.253+963G= n.2243G= c.2841+128G= (n.2841+128G=) | |
17 | g.44374870C>G | CA290946374 | ITGA2B | c.2842-110G>C (n.2842-110G>C) c.2273-110G>C c.253+963G>C n.2243G>C c.2841+128G>C (n.2841+128G>C) | dbSNP gnomAD v4 |
17 | g.44374871T>A | CA2809589779 | ITGA2B | c.2842-111A>T (n.2842-111A>T) c.2273-111A>T c.253+962A>T n.2242A>T c.2841+127A>T (n.2841+127A>T) | |
17 | g.44374872G>A | CA2809589780 | ITGA2B | c.2842-112C>T (n.2842-112C>T) c.2273-112C>T c.253+961C>T n.2241C>T c.2841+126C>T (n.2841+126C>T) | |
17 | g.44374872G>T | CA2638214924 | ITGA2B | c.2842-112C>A (n.2842-112C>A) c.2273-112C>A c.253+961C>A n.2241C>A c.2841+126C>A (n.2841+126C>A) | gnomAD v4 |
17 | g.44374873C>A | CA2638214925 | ITGA2B | c.2842-113G>T (n.2842-113G>T) c.2273-113G>T c.253+960G>T n.2240G>T c.2841+125G>T (n.2841+125G>T) | gnomAD v4 |
17 | g.44374873C>T | CA2638214926 | ITGA2B | c.2842-113G>A (n.2842-113G>A) c.2273-113G>A c.253+960G>A n.2240G>A c.2841+125G>A (n.2841+125G>A) | gnomAD v4 |
17 | g.44374876T>A | CA2809589781 | ITGA2B | c.2842-116A>T (n.2842-116A>T) c.2273-116A>T c.253+957A>T n.2237A>T c.2841+122A>T (n.2841+122A>T) | |
17 | g.44374877C>A | CA2638214928 | ITGA2B | c.2842-117G>T (n.2842-117G>T) c.2273-117G>T c.253+956G>T n.2236G>T c.2841+121G>T (n.2841+121G>T) | gnomAD v4 |
17 | g.44374877C>T | CA2638214929 | ITGA2B | c.2842-117G>A (n.2842-117G>A) c.2273-117G>A c.253+956G>A n.2236G>A c.2841+121G>A (n.2841+121G>A) | gnomAD v4 |
17 | g.44374881del | CA2638214927 | ITGA2B | c.2842-117del (n.2842-117del) c.2273-117del c.253+956del n.2236del c.2841+121del (n.2841+121del) | gnomAD v4 |
17 | g.44374878C>A | CA2638214930 | ITGA2B | c.2842-118G>T (n.2842-118G>T) c.2273-118G>T c.253+955G>T n.2235G>T c.2841+120G>T (n.2841+120G>T) | gnomAD v4 |
17 | g.44374878C= | CA2261365454 | ITGA2B | c.2842-118G= (n.2842-118G=) c.2273-118G= c.253+955G= n.2235G= c.2841+120G= (n.2841+120G=) | |
17 | g.44374878C>T | CA2261365455 | ITGA2B | c.2842-118G>A (n.2842-118G>A) c.2273-118G>A c.253+955G>A n.2235G>A c.2841+120G>A (n.2841+120G>A) | dbSNP gnomAD v4 |
17 | g.44374879C>A | CA2638214931 | ITGA2B | c.2842-119G>T (n.2842-119G>T) c.2273-119G>T c.253+954G>T n.2234G>T c.2841+119G>T (n.2841+119G>T) | gnomAD v4 |
17 | g.44374879C>T | CA2638214932 | ITGA2B | c.2842-119G>A (n.2842-119G>A) c.2273-119G>A c.253+954G>A n.2234G>A c.2841+119G>A (n.2841+119G>A) | gnomAD v4 |
17 | g.44374880C>G | CA2638214933 | ITGA2B | c.2841+118G>C (n.2841+118G>C) c.2272+118G>C c.253+953G>C n.2233G>C | gnomAD v4 |
17 | g.44374880_44374881insAAACACACCCAACA | CA2809589782 | ITGA2B | c.2841+117_2841+118insTGTTGGGTGTGTTT (n.2841+117_2841+118insTGTTGGGTGTGTTT) c.2272+117_2272+118insTGTTGGGTGTGTTT c.253+952_253+953insTGTTGGGTGTGTTT n.2232_2233insTGTTGGGTGTGTTT | |
17 | g.44374881C>A | CA2638214934 | ITGA2B | c.2841+117G>T (n.2841+117G>T) c.2272+117G>T c.253+952G>T n.2232G>T | gnomAD v4 |
17 | g.44374882A= | CA2261365456 | ITGA2B | c.2841+116T= (n.2841+116T=) c.2272+116T= c.253+951T= n.2231T= | |
17 | g.44374882A>G | CA772285506 | ITGA2B | c.2841+116T>C (n.2841+116T>C) c.2272+116T>C c.253+951T>C n.2231T>C | dbSNP |
17 | g.44374883A>G | CA2638214935 | ITGA2B | c.2841+115T>C (n.2841+115T>C) c.2272+115T>C c.253+950T>C n.2230T>C | gnomAD v4 |
17 | g.44374884A>G | CA2638214936 | ITGA2B | c.2841+114T>C (n.2841+114T>C) c.2272+114T>C c.253+949T>C n.2229T>C | gnomAD v4 |
17 | g.44374885G>A | CA772285509 | ITGA2B | c.2841+113C>T (n.2841+113C>T) c.2272+113C>T c.253+948C>T n.2228C>T | dbSNP gnomAD v4 |
17 | g.44374885G= | CA2261365457 | ITGA2B | c.2841+113C= (n.2841+113C=) c.2272+113C= c.253+948C= n.2228C= | |
17 | g.44374885G>T | CA2638214937 | ITGA2B | c.2841+113C>A (n.2841+113C>A) c.2272+113C>A c.253+948C>A n.2228C>A | gnomAD v4 |
17 | g.44374886T>A | CA290946376 | ITGA2B | c.2841+112A>T (n.2841+112A>T) c.2272+112A>T c.253+947A>T n.2227A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374886T= | CA2261365458 | ITGA2B | c.2841+112A= (n.2841+112A=) c.2272+112A= c.253+947A= n.2227A= | |
17 | g.44374889A= | CA2261365459 | ITGA2B | c.2841+109T= (n.2841+109T=) c.2272+109T= c.253+944T= n.2224T= | |
17 | g.44374889A>C | CA2261365460 | ITGA2B | c.2841+109T>G (n.2841+109T>G) c.2272+109T>G c.253+944T>G n.2224T>G | dbSNP gnomAD v4 |
17 | g.44374889A>G | CA2261365461 | ITGA2B | c.2841+109T>C (n.2841+109T>C) c.2272+109T>C c.253+944T>C n.2224T>C | dbSNP gnomAD v4 |
17 | g.44374890C>A | CA983995121 | ITGA2B | c.2841+108G>T (n.2841+108G>T) c.2272+108G>T c.253+943G>T n.2223G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374890C= | CA2261365462 | ITGA2B | c.2841+108G= (n.2841+108G=) c.2272+108G= c.253+943G= n.2223G= | |
17 | g.44374890C>T | CA2638214938 | ITGA2B | c.2841+108G>A (n.2841+108G>A) c.2272+108G>A c.253+943G>A n.2223G>A | gnomAD v4 |
17 | g.44374891C>A | CA983995136 | ITGA2B | c.2841+107G>T (n.2841+107G>T) c.2272+107G>T c.253+942G>T n.2222G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374891C= | CA2261365464 | ITGA2B | c.2841+107G= (n.2841+107G=) c.2272+107G= c.253+942G= n.2222G= | |
17 | g.44374891C>G | CA2261365463 | ITGA2B | c.2841+107G>C (n.2841+107G>C) c.2272+107G>C c.253+942G>C n.2222G>C | dbSNP |
17 | g.44374892T>C | CA2809589783 | ITGA2B | c.2841+106A>G (n.2841+106A>G) c.2272+106A>G c.253+941A>G n.2221A>G | |
17 | g.44374893T>C | CA2261365466 | ITGA2B | c.2841+105A>G (n.2841+105A>G) c.2272+105A>G c.253+940A>G n.2220A>G | dbSNP |
17 | g.44374893T= | CA2261365465 | ITGA2B | c.2841+105A= (n.2841+105A=) c.2272+105A= c.253+940A= n.2220A= | |
17 | g.44374894G>T | CA2638214939 | ITGA2B | c.2841+104C>A (n.2841+104C>A) c.2272+104C>A c.253+939C>A n.2219C>A | gnomAD v4 |
17 | g.44374895C>A | CA2638214940 | ITGA2B | c.2841+103G>T (n.2841+103G>T) c.2272+103G>T c.253+938G>T n.2218G>T | gnomAD v4 |
17 | g.44374896C>G | CA2638214941 | ITGA2B | c.2841+102G>C (n.2841+102G>C) c.2272+102G>C c.253+937G>C n.2217G>C | gnomAD v4 |
17 | g.44374896C>T | CA2733745836 | ITGA2B | c.2841+102G>A (n.2841+102G>A) c.2272+102G>A c.253+937G>A n.2217G>A | dbSNP |
17 | g.44374897T>C | CA2261365468 | ITGA2B | c.2841+101A>G (n.2841+101A>G) c.2272+101A>G c.253+936A>G n.2216A>G | dbSNP |
17 | g.44374897T>G | CA2638214942 | ITGA2B | c.2841+101A>C (n.2841+101A>C) c.2272+101A>C c.253+936A>C n.2216A>C | gnomAD v4 |
17 | g.44374897T= | CA2261365467 | ITGA2B | c.2841+101A= (n.2841+101A=) c.2272+101A= c.253+936A= n.2216A= | |
17 | g.44374898T>C | CA2638214944 | ITGA2B | c.2841+100A>G (n.2841+100A>G) c.2272+100A>G c.253+935A>G n.2215A>G | gnomAD v4 |
17 | g.44374902_44374918del | CA2638214943 | ITGA2B | c.2841+84_2841+100del (n.2841+84_2841+100del) c.2272+84_2272+100del c.253+919_253+935del n.2199_2215del | gnomAD v4 |
17 | g.44374899C>A | CA2638214945 | ITGA2B | c.2841+99G>T (n.2841+99G>T) c.2272+99G>T c.253+934G>T n.2214G>T | gnomAD v4 |
17 | g.44374899C= | CA2261365469 | ITGA2B | c.2841+99G= (n.2841+99G=) c.2272+99G= c.253+934G= n.2214G= | |
17 | g.44374899C>G | CA290946379 | ITGA2B | c.2841+99G>C (n.2841+99G>C) c.2272+99G>C c.253+934G>C n.2214G>C | dbSNP gnomAD v4 |
17 | g.44374899C>T | CA2261365470 | ITGA2B | c.2841+99G>A (n.2841+99G>A) c.2272+99G>A c.253+934G>A n.2214G>A | dbSNP gnomAD v4 |
17 | g.44374901dup | CA2839076639 | ITGA2B | c.2841+99dup (n.2841+99dup) c.2272+99dup c.253+934dup n.2214dup | |
17 | g.44374900C>A | CA2638214946 | ITGA2B | c.2841+98G>T (n.2841+98G>T) c.2272+98G>T c.253+933G>T n.2213G>T | gnomAD v4 |
17 | g.44374900C>T | CA2638214947 | ITGA2B | c.2841+98G>A (n.2841+98G>A) c.2272+98G>A c.253+933G>A n.2213G>A | gnomAD v4 |
17 | g.44374901C>A | CA2638214949 | ITGA2B | c.2841+97G>T (n.2841+97G>T) c.2272+97G>T c.253+932G>T n.2212G>T | gnomAD v4 |
17 | g.44374901C= | CA2261365471 | ITGA2B | c.2841+97G= (n.2841+97G=) c.2272+97G= c.253+932G= n.2212G= | |
17 | g.44374901C>T | CA290946388 | ITGA2B | c.2841+97G>A (n.2841+97G>A) c.2272+97G>A c.253+932G>A n.2212G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374905_44374906del | CA2638214948 | ITGA2B | c.2841+96_2841+97del (n.2841+96_2841+97del) c.2272+96_2272+97del c.253+931_253+932del n.2211_2212del | gnomAD v4 |
17 | g.44374902T>A | CA2809589784 | ITGA2B | c.2841+96A>T (n.2841+96A>T) c.2272+96A>T c.253+931A>T n.2211A>T | |
17 | g.44374903C= | CA2261365472 | ITGA2B | c.2841+95G= (n.2841+95G=) c.2272+95G= c.253+930G= n.2210G= | |
17 | g.44374903C>T | CA290946391 | ITGA2B | c.2841+95G>A (n.2841+95G>A) c.2272+95G>A c.253+930G>A n.2210G>A | dbSNP |
17 | g.44374904T>A | CA2638214950 | ITGA2B | c.2841+94A>T (n.2841+94A>T) c.2272+94A>T c.253+929A>T n.2209A>T | gnomAD v4 |
17 | g.44374905C>A | CA2638214951 | ITGA2B | c.2841+93G>T (n.2841+93G>T) c.2272+93G>T c.253+928G>T n.2208G>T | gnomAD v4 |
17 | g.44374907T>C | CA2638214952 | ITGA2B | c.2841+91A>G (n.2841+91A>G) c.2272+91A>G c.253+926A>G n.2206A>G | gnomAD v4 |
17 | g.44374909C>A | CA2838227005 | ITGA2B | c.2841+89G>T (n.2841+89G>T) c.2272+89G>T c.253+924G>T n.2204G>T | |
17 | g.44374909C>T | CA2576290919 | ITGA2B | c.2841+89G>A (n.2841+89G>A) c.2272+89G>A c.253+924G>A n.2204G>A | |
17 | g.44374910T>A | CA2638214953 | ITGA2B | c.2841+88A>T (n.2841+88A>T) c.2272+88A>T c.253+923A>T n.2203A>T | gnomAD v4 |
17 | g.44374910T>C | CA2638214954 | ITGA2B | c.2841+88A>G (n.2841+88A>G) c.2272+88A>G c.253+923A>G n.2203A>G | gnomAD v4 |
17 | g.44374910T>G | CA2638214955 | ITGA2B | c.2841+88A>C (n.2841+88A>C) c.2272+88A>C c.253+923A>C n.2203A>C | gnomAD v4 |
17 | g.44374911G>T | CA2638214956 | ITGA2B | c.2841+87C>A (n.2841+87C>A) c.2272+87C>A c.253+922C>A n.2202C>A | gnomAD v4 |
17 | g.44374912C>A | CA2638214957 | ITGA2B | c.2841+86G>T (n.2841+86G>T) c.2272+86G>T c.253+921G>T n.2201G>T | gnomAD v4 |
17 | g.44374912C>T | CA2638214958 | ITGA2B | c.2841+86G>A (n.2841+86G>A) c.2272+86G>A c.253+921G>A n.2201G>A | gnomAD v4 |
17 | g.44374920_44374940dup | CA2638214960 | ITGA2B | c.2841+66_2841+86dup (n.2841+66_2841+86dup) c.2272+66_2272+86dup c.253+901_253+921dup n.2181_2201dup | gnomAD v4 |
17 | g.44374915_44374956del | CA2638214959 | ITGA2B | c.2841+45_2841+86del (n.2841+45_2841+86del) c.2272+45_2272+86del c.253+880_253+921del n.2160_2201del | gnomAD v4 |
17 | g.44374913C>A | CA2638214961 | ITGA2B | c.2841+85G>T (n.2841+85G>T) c.2272+85G>T c.253+920G>T n.2200G>T | gnomAD v4 |
17 | g.44374913C>T | CA2638214962 | ITGA2B | c.2841+85G>A (n.2841+85G>A) c.2272+85G>A c.253+920G>A n.2200G>A | gnomAD v4 |
17 | g.44374914C>A | CA2638214963 | ITGA2B | c.2841+84G>T (n.2841+84G>T) c.2272+84G>T c.253+919G>T n.2199G>T | gnomAD v4 |
17 | g.44374914C>G | CA2638214964 | ITGA2B | c.2841+84G>C (n.2841+84G>C) c.2272+84G>C c.253+919G>C n.2199G>C | gnomAD v4 |
17 | g.44374914C>T | CA2638214965 | ITGA2B | c.2841+84G>A (n.2841+84G>A) c.2272+84G>A c.253+919G>A n.2199G>A | gnomAD v4 |
17 | g.44374915T>A | CA2638214966 | ITGA2B | c.2841+83A>T (n.2841+83A>T) c.2272+83A>T c.253+918A>T n.2198A>T | gnomAD v4 |
17 | g.44374915T>C | CA290946394 | ITGA2B | c.2841+83A>G (n.2841+83A>G) c.2272+83A>G c.253+918A>G n.2198A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374915T= | CA2261365473 | ITGA2B | c.2841+83A= (n.2841+83A=) c.2272+83A= c.253+918A= n.2198A= | |
17 | g.44374918del | CA2576290920 | ITGA2B | c.2841+82del (n.2841+82del) c.2272+82del c.253+917del n.2197del | |
17 | g.44374917C>A | CA2638214967 | ITGA2B | c.2841+81G>T (n.2841+81G>T) c.2272+81G>T c.253+916G>T n.2196G>T | gnomAD v4 |
17 | g.44374917C>T | CA2638214968 | ITGA2B | c.2841+81G>A (n.2841+81G>A) c.2272+81G>A c.253+916G>A n.2196G>A | gnomAD v4 |
17 | g.44374918C>T | CA2576290921 | ITGA2B | c.2841+80G>A (n.2841+80G>A) c.2272+80G>A c.253+915G>A n.2195G>A | |
17 | g.44374919A>C | CA983995139 | ITGA2B | c.2841+79T>G (n.2841+79T>G) c.2272+79T>G c.253+914T>G n.2194T>G | gnomAD v3 gnomAD v4 |
17 | g.44374919A>G | CA2576290922 | ITGA2B | c.2841+79T>C (n.2841+79T>C) c.2272+79T>C c.253+914T>C n.2194T>C | gnomAD v4 |
17 | g.44374919A>T | CA2638214969 | ITGA2B | c.2841+79T>A (n.2841+79T>A) c.2272+79T>A c.253+914T>A n.2194T>A | gnomAD v4 |
17 | g.44374920C>A | CA290946406 | ITGA2B | c.2841+78G>T (n.2841+78G>T) c.2272+78G>T c.253+913G>T n.2193G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374920C= | CA2261365474 | ITGA2B | c.2841+78G= (n.2841+78G=) c.2272+78G= c.253+913G= n.2193G= | |
17 | g.44374920C>T | CA2576290923 | ITGA2B | c.2841+78G>A (n.2841+78G>A) c.2272+78G>A c.253+913G>A n.2193G>A | gnomAD v4 |
17 | g.44374921A= | CA2261365475 | ITGA2B | c.2841+77T= (n.2841+77T=) c.2272+77T= c.253+912T= n.2192T= | |
17 | g.44374921A>C | CA2261365476 | ITGA2B | c.2841+77T>G (n.2841+77T>G) c.2272+77T>G c.253+912T>G n.2192T>G | dbSNP gnomAD v4 |
17 | g.44374921A>G | CA2638214970 | ITGA2B | c.2841+77T>C (n.2841+77T>C) c.2272+77T>C c.253+912T>C n.2192T>C | gnomAD v4 |
17 | g.44374922C>A | CA2638214971 | ITGA2B | c.2841+76G>T (n.2841+76G>T) c.2272+76G>T c.253+911G>T n.2191G>T | gnomAD v4 |
17 | g.44374922C>T | CA2638214972 | ITGA2B | c.2841+76G>A (n.2841+76G>A) c.2272+76G>A c.253+911G>A n.2191G>A | gnomAD v4 |
17 | g.44374923C>A | CA2638214973 | ITGA2B | c.2841+75G>T (n.2841+75G>T) c.2272+75G>T c.253+910G>T n.2190G>T | gnomAD v4 |
17 | g.44374923C>G | CA2638214974 | ITGA2B | c.2841+75G>C (n.2841+75G>C) c.2272+75G>C c.253+910G>C n.2190G>C | gnomAD v4 |
17 | g.44374924A= | CA2261365477 | ITGA2B | c.2841+74T= (n.2841+74T=) c.2272+74T= c.253+909T= n.2189T= | |
17 | g.44374924A>C | CA2638214975 | ITGA2B | c.2841+74T>G (n.2841+74T>G) c.2272+74T>G c.253+909T>G n.2189T>G | gnomAD v4 |
17 | g.44374924A>T | CA290946420 | ITGA2B | c.2841+74T>A (n.2841+74T>A) c.2272+74T>A c.253+909T>A n.2189T>A | dbSNP gnomAD v4 |
17 | g.44374925A>C | CA2638214976 | ITGA2B | c.2841+73T>G (n.2841+73T>G) c.2272+73T>G c.253+908T>G n.2188T>G | gnomAD v4 |
17 | g.44374925A>G | CA2638214977 | ITGA2B | c.2841+73T>C (n.2841+73T>C) c.2272+73T>C c.253+908T>C n.2188T>C | gnomAD v4 |
17 | g.44374926A= | CA2261365478 | ITGA2B | c.2841+72T= (n.2841+72T=) c.2272+72T= c.253+907T= n.2187T= | |
17 | g.44374926A>C | CA983995144 | ITGA2B | c.2841+72T>G (n.2841+72T>G) c.2272+72T>G c.253+907T>G n.2187T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374926A>G | CA2638214978 | ITGA2B | c.2841+72T>C (n.2841+72T>C) c.2272+72T>C c.253+907T>C n.2187T>C | gnomAD v4 |
17 | g.44374926A>T | CA2638214979 | ITGA2B | c.2841+72T>A (n.2841+72T>A) c.2272+72T>A c.253+907T>A n.2187T>A | gnomAD v4 |
17 | g.44374927C>A | CA2638214980 | ITGA2B | c.2841+71G>T (n.2841+71G>T) c.2272+71G>T c.253+906G>T n.2186G>T | gnomAD v4 |
17 | g.44374927C= | CA2261365479 | ITGA2B | c.2841+71G= (n.2841+71G=) c.2272+71G= c.253+906G= n.2186G= | |
17 | g.44374927C>T | CA290946423 | ITGA2B | c.2841+71G>A (n.2841+71G>A) c.2272+71G>A c.253+906G>A n.2186G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374935_44374960del | CA2638214981 | ITGA2B | c.2841+46_2841+71del (n.2841+46_2841+71del) c.2272+46_2272+71del c.253+881_253+906del n.2161_2186del | gnomAD v4 |
17 | g.44374936_44374980del | CA2638214982 | ITGA2B | c.2841+27_2841+71del (n.2841+27_2841+71del) c.2272+27_2272+71del c.253+862_253+906del n.2142_2186del | gnomAD v4 |
17 | g.44374928C>A | CA2638214983 | ITGA2B | c.2841+70G>T (n.2841+70G>T) c.2272+70G>T c.253+905G>T n.2185G>T | gnomAD v4 |
17 | g.44374928C= | CA2261365480 | ITGA2B | c.2841+70G= (n.2841+70G=) c.2272+70G= c.253+905G= n.2185G= | |
17 | g.44374928C>T | CA772285525 | ITGA2B | c.2841+70G>A (n.2841+70G>A) c.2272+70G>A c.253+905G>A n.2185G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374929C>A | CA2638214984 | ITGA2B | c.2841+69G>T (n.2841+69G>T) c.2272+69G>T c.253+904G>T n.2184G>T | gnomAD v4 |
17 | g.44374929C>T | CA2838227008 | ITGA2B | c.2841+69G>A (n.2841+69G>A) c.2272+69G>A c.253+904G>A n.2184G>A | |
17 | g.44374930C>A | CA2638214985 | ITGA2B | c.2841+68G>T (n.2841+68G>T) c.2272+68G>T c.253+903G>T n.2183G>T | gnomAD v4 |
17 | g.44374930C>T | CA2576290924 | ITGA2B | c.2841+68G>A (n.2841+68G>A) c.2272+68G>A c.253+903G>A n.2183G>A | gnomAD v4 |
17 | g.44374931G>A | CA2576290925 | ITGA2B | c.2841+67C>T (n.2841+67C>T) c.2272+67C>T c.253+902C>T n.2182C>T | gnomAD v4 |
17 | g.44374931G>C | CA626119800 | ITGA2B | c.2841+67C>G (n.2841+67C>G) c.2272+67C>G c.253+902C>G n.2182C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374931G= | CA2261365481 | ITGA2B | c.2841+67C= (n.2841+67C=) c.2272+67C= c.253+902C= n.2182C= | |
17 | g.44374931G>T | CA2576290926 | ITGA2B | c.2841+67C>A (n.2841+67C>A) c.2272+67C>A c.253+902C>A n.2182C>A | gnomAD v4 |
17 | g.44374932C>A | CA2576290927 | ITGA2B | c.2841+66G>T (n.2841+66G>T) c.2272+66G>T c.253+901G>T n.2181G>T | |
17 | g.44374932C>T | CA2638214987 | ITGA2B | c.2841+66G>A (n.2841+66G>A) c.2272+66G>A c.253+901G>A n.2181G>A | gnomAD v4 |
17 | g.44374932_44374961del | CA2638214986 | ITGA2B | c.2841+37_2841+66del (n.2841+37_2841+66del) c.2272+37_2272+66del c.253+872_253+901del n.2152_2181del | gnomAD v4 |
17 | g.44374933C>A | CA2638214988 | ITGA2B | c.2841+65G>T (n.2841+65G>T) c.2272+65G>T c.253+900G>T n.2180G>T | gnomAD v4 |
17 | g.44374935C>A | CA2638214989 | ITGA2B | c.2841+63G>T (n.2841+63G>T) c.2272+63G>T c.253+898G>T n.2178G>T | gnomAD v4 |
17 | g.44374935C>G | CA2638214990 | ITGA2B | c.2841+63G>C (n.2841+63G>C) c.2272+63G>C c.253+898G>C n.2178G>C | gnomAD v4 |
17 | g.44374935C>T | CA2809589785 | ITGA2B | c.2841+63G>A (n.2841+63G>A) c.2272+63G>A c.253+898G>A n.2178G>A | |
17 | g.44374936T>A | CA983995149 | ITGA2B | c.2841+62A>T (n.2841+62A>T) c.2272+62A>T c.253+897A>T n.2177A>T | gnomAD v3 gnomAD v4 |
17 | g.44374936T>C | CA626119801 | ITGA2B | c.2841+62A>G (n.2841+62A>G) c.2272+62A>G c.253+897A>G n.2177A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374936T>G | CA2638214991 | ITGA2B | c.2841+62A>C (n.2841+62A>C) c.2272+62A>C c.253+897A>C n.2177A>C | gnomAD v4 |
17 | g.44374936T= | CA2261365482 | ITGA2B | c.2841+62A= (n.2841+62A=) c.2272+62A= c.253+897A= n.2177A= | |
17 | g.44374937C>A | CA2638214993 | ITGA2B | c.2841+61G>T (n.2841+61G>T) c.2272+61G>T c.253+896G>T n.2176G>T | gnomAD v4 |
17 | g.44374937C= | CA2261365484 | ITGA2B | c.2841+61G= (n.2841+61G=) c.2272+61G= c.253+896G= n.2176G= | |
17 | g.44374937C>G | CA2638214994 | ITGA2B | c.2841+61G>C (n.2841+61G>C) c.2272+61G>C c.253+896G>C n.2176G>C | gnomAD v4 |
17 | g.44374937C>T | CA2261365483 | ITGA2B | c.2841+61G>A (n.2841+61G>A) c.2272+61G>A c.253+896G>A n.2176G>A | dbSNP gnomAD v4 |
17 | g.44374939del | CA2638214992 | ITGA2B | c.2841+61del (n.2841+61del) c.2272+61del c.253+896del n.2176del | gnomAD v4 |
17 | g.44374938C>A | CA2809589786 | ITGA2B | c.2841+60G>T (n.2841+60G>T) c.2272+60G>T c.253+895G>T n.2175G>T | |
17 | g.44374938C>T | CA2638214995 | ITGA2B | c.2841+60G>A (n.2841+60G>A) c.2272+60G>A c.253+895G>A n.2175G>A | gnomAD v4 |
17 | g.44374939C>A | CA2638214996 | ITGA2B | c.2841+59G>T (n.2841+59G>T) c.2272+59G>T c.253+894G>T n.2174G>T | gnomAD v4 |
17 | g.44374939C= | CA2261365485 | ITGA2B | c.2841+59G= (n.2841+59G=) c.2272+59G= c.253+894G= n.2174G= | |
17 | g.44374939C>T | CA290946425 | ITGA2B | c.2841+59G>A (n.2841+59G>A) c.2272+59G>A c.253+894G>A n.2174G>A | dbSNP gnomAD v4 |
17 | g.44374940A= | CA2261365486 | ITGA2B | c.2841+58T= (n.2841+58T=) c.2272+58T= c.253+893T= n.2173T= | |
17 | g.44374940A>C | CA772285529 | ITGA2B | c.2841+58T>G (n.2841+58T>G) c.2272+58T>G c.253+893T>G n.2173T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374940A>G | CA2838207591 | ITGA2B | c.2841+58T>C (n.2841+58T>C) c.2272+58T>C c.253+893T>C n.2173T>C | |
17 | g.44374940A>T | CA2261365487 | ITGA2B | c.2841+58T>A (n.2841+58T>A) c.2272+58T>A c.253+893T>A n.2173T>A | dbSNP gnomAD v4 |
17 | g.44374940_44374943del | CA2839075721 | ITGA2B | c.2841+55_2841+58del (n.2841+55_2841+58del) c.2272+55_2272+58del c.253+890_253+893del n.2170_2173del | |
17 | g.44374941G>A | CA2638214997 | ITGA2B | c.2841+57C>T (n.2841+57C>T) c.2272+57C>T c.253+892C>T n.2172C>T | gnomAD v4 |
17 | g.44374941G>C | CA983995155 | ITGA2B | c.2841+57C>G (n.2841+57C>G) c.2272+57C>G c.253+892C>G n.2172C>G | gnomAD v3 gnomAD v4 |
17 | g.44374941G>T | CA2638214998 | ITGA2B | c.2841+57C>A (n.2841+57C>A) c.2272+57C>A c.253+892C>A n.2172C>A | gnomAD v4 |
17 | g.44374942A= | CA2261365488 | ITGA2B | c.2841+56T= (n.2841+56T=) c.2272+56T= c.253+891T= n.2171T= | |
17 | g.44374942A>G | CA290946429 | ITGA2B | c.2841+56T>C (n.2841+56T>C) c.2272+56T>C c.253+891T>C n.2171T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374942A>T | CA2638214999 | ITGA2B | c.2841+56T>A (n.2841+56T>A) c.2272+56T>A c.253+891T>A n.2171T>A | gnomAD v4 |
17 | g.44374943G>A | CA2638215001 | ITGA2B | c.2841+55C>T (n.2841+55C>T) c.2272+55C>T c.253+890C>T n.2170C>T | gnomAD v4 |
17 | g.44374943G>T | CA2638215000 | ITGA2B | c.2841+55C>A (n.2841+55C>A) c.2272+55C>A c.253+890C>A n.2170C>A | gnomAD v4 |
17 | g.44374944C>T | CA2576290929 | ITGA2B | c.2841+54G>A (n.2841+54G>A) c.2272+54G>A c.253+889G>A n.2169G>A | gnomAD v4 |
17 | g.44374945A>C | CA2594317904 | ITGA2B | c.2841+53T>G (n.2841+53T>G) c.2272+53T>G c.253+888T>G n.2168T>G | gnomAD v3 gnomAD v4 |
17 | g.44374947del | CA2638215002 | ITGA2B | c.2841+53del (n.2841+53del) c.2272+53del c.253+888del n.2168del | gnomAD v4 |
17 | g.44374946A>C | CA2638215003 | ITGA2B | c.2841+52T>G (n.2841+52T>G) c.2272+52T>G c.253+887T>G n.2167T>G | dbSNP gnomAD v4 |
17 | g.44374948G>A | CA2576290930 | ITGA2B | c.2841+50C>T (n.2841+50C>T) c.2272+50C>T c.253+885C>T n.2165C>T | gnomAD v4 |
17 | g.44374948G>C | CA626119802 | ITGA2B | c.2841+50C>G (n.2841+50C>G) c.2272+50C>G c.253+885C>G n.2165C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374948G= | CA2261365489 | ITGA2B | c.2841+50C= (n.2841+50C=) c.2272+50C= c.253+885C= n.2165C= | |
17 | g.44374948G>T | CA2638215004 | ITGA2B | c.2841+50C>A (n.2841+50C>A) c.2272+50C>A c.253+885C>A n.2165C>A | gnomAD v4 |
17 | g.44374948_44374949insCCTG | CA2809589787 | ITGA2B | c.2841+50_2841+51insAGGC (n.2841+50_2841+51insAGGC) c.2272+50_2272+51insAGGC c.253+885_253+886insAGGC n.2165_2166insAGGC | |
17 | g.44374949T>C | CA2261365491 | ITGA2B | c.2841+49A>G (n.2841+49A>G) c.2272+49A>G c.253+884A>G n.2164A>G | dbSNP gnomAD v4 |
17 | g.44374949T= | CA2261365490 | ITGA2B | c.2841+49A= (n.2841+49A=) c.2272+49A= c.253+884A= n.2164A= | |
17 | g.44374950G>A | CA2261365493 | ITGA2B | c.2841+48C>T (n.2841+48C>T) c.2272+48C>T c.253+883C>T n.2163C>T | dbSNP |
17 | g.44374950G>C | CA8602566 | ITGA2B | c.2841+48C>G (n.2841+48C>G) c.2272+48C>G c.253+883C>G n.2163C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374950G= | CA2261365492 | ITGA2B | c.2841+48C= (n.2841+48C=) c.2272+48C= c.253+883C= n.2163C= | |
17 | g.44374950G>T | CA2638215005 | ITGA2B | c.2841+48C>A (n.2841+48C>A) c.2272+48C>A c.253+883C>A n.2163C>A | gnomAD v4 |
17 | g.44374951G>T | CA2638215006 | ITGA2B | c.2841+47C>A (n.2841+47C>A) c.2272+47C>A c.253+882C>A n.2162C>A | gnomAD v4 |
17 | g.44374951_44374952del | CA2809589788 | ITGA2B | c.2841+46_2841+47del (n.2841+46_2841+47del) c.2272+46_2272+47del c.253+881_253+882del n.2161_2162del | |
17 | g.44374952T>C | CA2261365495 | ITGA2B | c.2841+46A>G (n.2841+46A>G) c.2272+46A>G c.253+881A>G n.2161A>G | dbSNP |
17 | g.44374952T>G | CA2838226994 | ITGA2B | c.2841+46A>C (n.2841+46A>C) c.2272+46A>C c.253+881A>C n.2161A>C | |
17 | g.44374952T= | CA2261365496 | ITGA2B | c.2841+46A= (n.2841+46A=) c.2272+46A= c.253+881A= n.2161A= | |
17 | g.44374952_44374971delinsTCCCCGCCCAGAAGGCCCGG | CA2261365494 | ITGA2B | c.2841+27_2841+46delinsCCGGGCCTTCTGGGCGGGGA (n.2841+27_2841+46delinsCCGGGCCTTCTGGGCGGGGA) c.2272+27_2272+46delinsCCGGGCCTTCTGGGCGGGGA c.253+862_253+881delinsCCGGGCCTTCTGGGCGGGGA n.2142_2161delinsCCGGGCCTTCTGGGCGGGGA | |
17 | g.44374952_44374953insG | CA2638215010 | ITGA2B | c.2841+45_2841+46insC (n.2841+45_2841+46insC) c.2272+45_2272+46insC c.253+880_253+881insC n.2160_2161insC | gnomAD v4 |
17 | g.44374952_44374953insAC | CA2638215013 | ITGA2B | c.2841+45_2841+46insGT (n.2841+45_2841+46insGT) c.2272+45_2272+46insGT c.253+880_253+881insGT n.2160_2161insGT | gnomAD v4 |
17 | g.44374952_44374953insGC | CA2638215011 | ITGA2B | c.2841+45_2841+46insGC (n.2841+45_2841+46insGC) c.2272+45_2272+46insGC c.253+880_253+881insGC n.2160_2161insGC | gnomAD v4 |
17 | g.44374952_44374953insGCC | CA2809589789 | ITGA2B | c.2841+45_2841+46insGGC (n.2841+45_2841+46insGGC) c.2272+45_2272+46insGGC c.253+880_253+881insGGC n.2160_2161insGGC | |
17 | g.44374953C>A | CA2638215009 | ITGA2B | c.2841+45G>T (n.2841+45G>T) c.2272+45G>T c.253+880G>T n.2160G>T | gnomAD v4 |
17 | g.44374953C>G | CA2638215008 | ITGA2B | c.2841+45G>C (n.2841+45G>C) c.2272+45G>C c.253+880G>C n.2160G>C | gnomAD v4 |
17 | g.44374953C>T | CA2506225277 | ITGA2B | c.2841+45G>A (n.2841+45G>A) c.2272+45G>A c.253+880G>A n.2160G>A | gnomAD v4 |
17 | g.44374956dup | CA2638215012 | ITGA2B | c.2841+45dup (n.2841+45dup) c.2272+45dup c.253+880dup n.2160dup | gnomAD v4 |
17 | g.44374955_44374956dup | CA2638215007 | ITGA2B | c.2841+44_2841+45dup (n.2841+44_2841+45dup) c.2272+44_2272+45dup c.253+879_253+880dup n.2159_2160dup | gnomAD v4 |
17 | g.44374956del | CA2576290932 | ITGA2B | c.2841+45del (n.2841+45del) c.2272+45del c.253+880del n.2160del | |
17 | g.44374953_44374960dup | CA2514754620 | ITGA2B | c.2841+38_2841+45dup (n.2841+38_2841+45dup) c.2272+38_2272+45dup c.253+873_253+880dup n.2153_2160dup | |
17 | g.44374961_44374979del | CA8602567 | ITGA2B | c.2841+27_2841+45del (n.2841+27_2841+45del) c.2272+27_2272+45del c.253+862_253+880del n.2142_2160del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374954C>T | CA2838226992 | ITGA2B | c.2841+44G>A (n.2841+44G>A) c.2272+44G>A c.253+879G>A n.2159G>A | |
17 | g.44374955C>A | CA2638215014 | ITGA2B | c.2841+43G>T (n.2841+43G>T) c.2272+43G>T c.253+878G>T n.2158G>T | gnomAD v4 |
17 | g.44374955C= | CA2261365497 | ITGA2B | c.2841+43G= (n.2841+43G=) c.2272+43G= c.253+878G= n.2158G= | |
17 | g.44374955C>T | CA626119812 | ITGA2B | c.2841+43G>A (n.2841+43G>A) c.2272+43G>A c.253+878G>A n.2158G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374956C>A | CA2638215015 | ITGA2B | c.2841+42G>T (n.2841+42G>T) c.2272+42G>T c.253+877G>T n.2157G>T | gnomAD v4 |
17 | g.44374956C= | CA2261365498 | ITGA2B | c.2841+42G= (n.2841+42G=) c.2272+42G= c.253+877G= n.2157G= | |
17 | g.44374956C>G | CA290946431 | ITGA2B | c.2841+42G>C (n.2841+42G>C) c.2272+42G>C c.253+877G>C n.2157G>C | dbSNP |
17 | g.44374956C>T | CA2261365499 | ITGA2B | c.2841+42G>A (n.2841+42G>A) c.2272+42G>A c.253+877G>A n.2157G>A | dbSNP gnomAD v4 |
17 | g.44374957del | CA2638215016 | ITGA2B | c.2841+41del (n.2841+41del) c.2272+41del c.253+876del n.2156del | gnomAD v4 |
17 | g.44374957G>A | CA2576290933 | ITGA2B | c.2841+41C>T (n.2841+41C>T) c.2272+41C>T c.253+876C>T n.2156C>T | gnomAD v4 |
17 | g.44374957G>C | CA772285544 | ITGA2B | c.2841+41C>G (n.2841+41C>G) c.2272+41C>G c.253+876C>G n.2156C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374957G= | CA2261365500 | ITGA2B | c.2841+41C= (n.2841+41C=) c.2272+41C= c.253+876C= n.2156C= | |
17 | g.44374957G>T | CA8602568 | ITGA2B | c.2841+41C>A (n.2841+41C>A) c.2272+41C>A c.253+876C>A n.2156C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44374961_44374974del | CA2576290934 | ITGA2B | c.2841+28_2841+41del (n.2841+28_2841+41del) c.2272+28_2272+41del c.253+863_253+876del n.2143_2156del | |
17 | g.44374958C>A | CA2638215017 | ITGA2B | c.2841+40G>T (n.2841+40G>T) c.2272+40G>T c.253+875G>T n.2155G>T | gnomAD v4 |
17 | g.44374958C= | CA2261365501 | ITGA2B | c.2841+40G= (n.2841+40G=) c.2272+40G= c.253+875G= n.2155G= | |
17 | g.44374958C>T | CA983995164 | ITGA2B | c.2841+40G>A (n.2841+40G>A) c.2272+40G>A c.253+875G>A n.2155G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374959C>A | CA2638215019 | ITGA2B | c.2841+39G>T (n.2841+39G>T) c.2272+39G>T c.253+874G>T n.2154G>T | gnomAD v4 |
17 | g.44374959C>G | CA2638215020 | ITGA2B | c.2841+39G>C (n.2841+39G>C) c.2272+39G>C c.253+874G>C n.2154G>C | gnomAD v4 |
17 | g.44374961_44374978del | CA2638215018 | ITGA2B | c.2841+22_2841+39del (n.2841+22_2841+39del) c.2272+22_2272+39del c.253+857_253+874del n.2137_2154del | gnomAD v4 |
17 | g.44374960C>A | CA2638215022 | ITGA2B | c.2841+38G>T (n.2841+38G>T) c.2272+38G>T c.253+873G>T n.2153G>T | gnomAD v4 |
17 | g.44374960C= | CA2261365502 | ITGA2B | c.2841+38G= (n.2841+38G=) c.2272+38G= c.253+873G= n.2153G= | |
17 | g.44374960C>T | CA626119818 | ITGA2B | c.2841+38G>A (n.2841+38G>A) c.2272+38G>A c.253+873G>A n.2153G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374960_44374961del | CA2840396052 | ITGA2B | c.2841+37_2841+38del (n.2841+37_2841+38del) c.2272+37_2272+38del c.253+872_253+873del n.2152_2153del | |
17 | g.44374961_44374967del | CA2638215021 | ITGA2B | c.2841+32_2841+38del (n.2841+32_2841+38del) c.2272+32_2272+38del c.253+867_253+873del n.2147_2153del | gnomAD v4 |
17 | g.44374960_44374961insCCA | CA2638215023 | ITGA2B | c.2841+37_2841+38insTGG (n.2841+37_2841+38insTGG) c.2272+37_2272+38insTGG c.253+872_253+873insTGG n.2152_2153insTGG | gnomAD v4 |
17 | g.44374961A= | CA2261365503 | ITGA2B | c.2841+37T= (n.2841+37T=) c.2272+37T= c.253+872T= n.2152T= | |
17 | g.44374961A>C | CA772285547 | ITGA2B | c.2841+37T>G (n.2841+37T>G) c.2272+37T>G c.253+872T>G n.2152T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374961A>T | CA2638215026 | ITGA2B | c.2841+37T>A (n.2841+37T>A) c.2272+37T>A c.253+872T>A n.2152T>A | gnomAD v4 |
17 | g.44374962_44374963del | CA2638215024 | ITGA2B | c.2841+36_2841+37del (n.2841+36_2841+37del) c.2272+36_2272+37del c.253+871_253+872del n.2151_2152del | gnomAD v4 |
17 | g.44374963_44374965del | CA2809589790 | ITGA2B | c.2841+35_2841+37del (n.2841+35_2841+37del) c.2272+35_2272+37del c.253+870_253+872del n.2150_2152del | |
17 | g.44374961_44374966del | CA2638215025 | ITGA2B | c.2841+32_2841+37del (n.2841+32_2841+37del) c.2272+32_2272+37del c.253+867_253+872del n.2147_2152del | gnomAD v4 |
17 | g.44374962del | CA2638215028 | ITGA2B | c.2841+36del (n.2841+36del) c.2272+36del c.253+871del n.2151del | gnomAD v4 |
17 | g.44374962G>A | CA772285549 | ITGA2B | c.2841+36C>T (n.2841+36C>T) c.2272+36C>T c.253+871C>T n.2151C>T | dbSNP gnomAD v4 |
17 | g.44374962G>C | CA2576290935 | ITGA2B | c.2841+36C>G (n.2841+36C>G) c.2272+36C>G c.253+871C>G n.2151C>G | gnomAD v3 gnomAD v4 |
17 | g.44374962G= | CA2261365504 | ITGA2B | c.2841+36C= (n.2841+36C=) c.2272+36C= c.253+871C= n.2151C= | |
17 | g.44374962G>T | CA2638215027 | ITGA2B | c.2841+36C>A (n.2841+36C>A) c.2272+36C>A c.253+871C>A n.2151C>A | gnomAD v4 |
17 | g.44374963A>C | CA2638215031 | ITGA2B | c.2841+35T>G (n.2841+35T>G) c.2272+35T>G c.253+870T>G n.2150T>G | gnomAD v4 |
17 | g.44374963A>G | CA2638215032 | ITGA2B | c.2841+35T>C (n.2841+35T>C) c.2272+35T>C c.253+870T>C n.2150T>C | gnomAD v4 |
17 | g.44374963A>T | CA2638215033 | ITGA2B | c.2841+35T>A (n.2841+35T>A) c.2272+35T>A c.253+870T>A n.2150T>A | gnomAD v4 |
17 | g.44374963_44374964del | CA2638215029 | ITGA2B | c.2841+34_2841+35del (n.2841+34_2841+35del) c.2272+34_2272+35del c.253+869_253+870del n.2149_2150del | gnomAD v4 |
17 | g.44374963_44374967del | CA2638215030 | ITGA2B | c.2841+31_2841+35del (n.2841+31_2841+35del) c.2272+31_2272+35del c.253+866_253+870del n.2146_2150del | gnomAD v4 |
17 | g.44374964A>G | CA2638215034 | ITGA2B | c.2841+34T>C (n.2841+34T>C) c.2272+34T>C c.253+869T>C n.2149T>C | gnomAD v4 |