Full data view for gene XAB2

Information The variants shown are described using the NM_020196.2 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.21C>T r.(=) p.(=) Unknown g.7694393G>A - XAB2_000084 rs4134809 0.293 151 516 18141 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.23C>G r.(?) p.(Ser8Trp) Unknown g.7694391G>C - XAB2_000083 rs146660753 0.001938 1 516 9718 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.48C>T r.(=) p.(=) Unknown g.7694366G>A - XAB2_000082 rs762233879 0.001938 1 516 9702 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.52-47G>A r.(=) p.(=) Unknown g.7693231C>T - XAB2_000081 rs4134819 0.058 30 516 3794 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.63C>T r.(=) p.(=) Unknown g.7693173G>A - XAB2_000080 rs1015536432 0.001938 1 516 7668 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.200+148C>T r.(=) p.(=) Unknown g.7692888G>A - XAB2_000079 rs780577064 0.001938 1 516 3540 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.201-94C>G r.(=) p.(=) Unknown g.7692831G>C - XAB2_000078 rs181076737 0.001938 1 516 5817 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.324+11C>T r.(=) p.(=) Unknown g.7692603G>A - XAB2_000077 rs4134820 0.012 6 516 6223 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.383_384insAGGCGTACCGCTGGAAGAACTCGACCAGCAGATCATGGTGCTGCGCGAACCCGGCTCGAT r.(?) p.(His128delinsGlnGlyValProLeuGluGluLeuAspGlnGlnIleMetValLeuArgGluProGlySerIle) Unknown g.7692267_7692268insATCGAGCCGGGTTCGCGCAGCACCATGATCTGCTGGTCGAGTTCTTCCAGCGGTACGCCT - XAB2_000076 - - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.519C>T r.(=) p.(=) Unknown g.7692132G>A - XAB2_000074 rs4134824 0.005814 3 516 6963 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.522+46C>T r.(=) p.(=) Unknown g.7692083G>A - XAB2_000072 rs4134825 0.116 60 516 5508 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.522+53A>G r.(=) p.(=) Unknown g.7692076T>C - XAB2_000070 rs4134826 0.159 82 516 5182 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.522+69C>T r.(=) p.(=) Unknown g.7692060G>A - XAB2_000068 rs4134827 0.014 7 516 4677 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.522+71C>T r.(=) p.(=) Unknown g.7692058G>A - XAB2_000066 rs794084 0.562 290 516 4627 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.522+118A>G r.(=) p.(=) Unknown g.7692011T>C - XAB2_000064 rs189031647 0.001938 1 516 2693 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.523-87G>A r.(=) p.(=) Unknown g.7691243C>T - XAB2_000062 rs4134833 0.012 6 512 2195 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.523-48G>A r.(=) p.(=) Unknown g.7691204C>T - XAB2_000060 rs200681663 0.001938 1 516 4340 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.617A>C r.(?) p.(Asp206Ala) Unknown g.7691062T>G - XAB2_000058 rs141060900 0.003876 2 516 9797 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.636G>A r.(=) p.(=) Unknown g.7691043C>T - XAB2_000075 rs145713741 0.003876 2 516 9879 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.657+18C>T r.(=) p.(=) Unknown g.7691004G>A - XAB2_000073 rs4134836 0.001938 1 516 9872 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.657+19G>A r.(=) p.(=) Unknown g.7691003C>T - XAB2_000071 rs4134837 0.005814 3 516 9962 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.657+21C>G r.(=) p.(=) Unknown g.7691001G>C - XAB2_000069 rs4134838 0.161 83 516 11966 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.696G>A r.(=) p.(=) Unknown g.7690892C>T - XAB2_000067 rs4134839 0.00969 5 516 9704 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.741C>T r.(=) p.(=) Unknown g.7690847G>A - XAB2_000065 rs781425288 0.001938 1 516 9561 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.747C>A r.(=) p.(=) Unknown g.7690841G>T - XAB2_000063 rs111253966 0.001938 1 516 9545 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.786C>T r.(=) p.(=) Unknown g.7690802G>A - XAB2_000061 rs146567284 0.003876 2 516 9426 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.790G>A r.(?) p.(Asp264Asn) Unknown g.7690798C>T - XAB2_000059 rs144276604 0.001938 1 516 9371 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.822+16C>T r.(=) p.(=) Unknown g.7690750G>A - XAB2_000057 rs368006371 0.003876 2 516 7235 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.822+30C>T r.(=) p.(=) Unknown g.7690736G>A - XAB2_000056 rs182751570 0.003876 2 516 5917 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.822+48C>T r.(=) p.(=) Unknown g.7690718G>A - XAB2_000055 rs373630807 0.007752 4 516 5214 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.823-132_823-131insGG r.(=) p.(=) Unknown g.7689462_7689463insCC - XAB2_000054 rs1258776207 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.823-129_823-128del r.(=) p.(=) Unknown g.7689459_7689460del - XAB2_000052 rs1198022295 0.001938 1 516 8991 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.864C>T r.(=) p.(=) Unknown g.7689290G>A - XAB2_000050 rs759963778 0.001938 1 516 9138 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.869G>A r.(?) p.(Arg290Gln) Unknown g.7689285C>T - XAB2_000048 rs771246132 0.001938 1 516 9108 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.944C>T r.(?) p.(Ser315Leu) Unknown g.7689210G>A - XAB2_000046 rs763248298 0.001938 1 516 6505 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.967+5G>A r.spl? p.? Unknown g.7689182C>T - XAB2_000044 rs149869496 0.003876 2 516 4484 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.968-70T>C r.(=) p.(=) Unknown g.7688838A>G - XAB2_000042 rs732457 0.202 103 510 1834 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.968-69G>A r.(=) p.(=) Unknown g.7688837C>T - XAB2_000040 rs4134843 0.033 17 512 1865 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.968-30G>A r.(=) p.(=) Unknown g.7688798C>T - XAB2_000038 rs794080 0.19 98 516 3293 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1119+3A>G r.spl? p.? Unknown g.7688614T>C - XAB2_000036 rs2335521 0.165 85 516 9079 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1119+51A>G r.(=) p.(=) Unknown g.7688566T>C - XAB2_000034 rs140132814 0.005814 3 516 7640 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1185C>T r.(=) p.(=) Unknown g.7688110G>A - XAB2_000032 rs1044908043 0.001938 1 516 8991 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1239+9C>T r.(=) p.(=) Unknown g.7688047G>A - XAB2_000030 rs984905434 0.001938 1 516 9117 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1239+17G>A r.(=) p.(=) Unknown g.7688039C>T - XAB2_000053 rs4134846 0.116 60 516 9216 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1239+103G>A r.(=) p.(=) Unknown g.7687953C>T - XAB2_000051 rs776352943 0.001938 1 516 4595 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1239+109G>A r.(=) p.(=) Unknown g.7687947C>T - XAB2_000049 rs1343001048 0.001938 1 516 4354 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1240-129T>C r.(=) p.(=) Unknown g.7687908A>G - XAB2_000047 rs4134849 0.111 57 512 3203 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1240-10G>A r.(=) p.(=) Unknown g.7687789C>T - XAB2_000045 rs191313046 0.001938 1 516 3705 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1289A>G r.(?) p.(Asp430Gly) Unknown g.7687730T>C - XAB2_000043 rs35275272 0.003876 2 516 7317 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1339G>A r.(?) p.(Glu447Lys) Unknown g.7687680C>T - XAB2_000041 rs113439333 0.001938 1 516 9213 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1371+22G>C r.(=) p.(=) Unknown g.7687626C>G - XAB2_000039 rs4134851 0.163 84 516 10862 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1372-29G>A r.(=) p.(=) Unknown g.7687576C>T - XAB2_000037 rs201341183 0.001938 1 516 9794 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1380G>C r.(=) p.(=) Unknown g.7687539C>G - XAB2_000035 rs375113742 0.001938 1 516 9824 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1473C>T r.(=) p.(=) Unknown g.7687446G>A - XAB2_000033 rs4134852 0.001938 1 516 9846 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1491C>T r.(=) p.(=) Unknown g.7687428G>A - XAB2_000031 rs4134853 0.045 23 516 11124 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1503+35C>T r.(=) p.(=) Unknown g.7687381G>A - XAB2_000029 rs139422529 0.001938 1 516 9391 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1533G>A r.(=) p.(=) Unknown g.7687301C>T - XAB2_000028 rs1458244343 0.001938 1 516 9392 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1560C>T r.(=) p.(=) Unknown g.7687274G>A - XAB2_000027 rs373175532 0.001938 1 516 9417 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1617+32G>T r.(=) p.(=) Unknown g.7687185C>A - XAB2_000026 rs374805663 0.001938 1 516 7854 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1617+38_1617+40del r.(=) p.(=) Unknown g.7687177_7687179del - XAB2_000024 rs753975418 0.126 65 516 3846 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1618-99T>A r.(=) p.(=) Unknown g.7686282A>T - XAB2_000022 rs4134861 0.126 65 516 3846 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1618-77C>T r.(=) p.(=) Unknown g.7686260G>A - XAB2_000020 rs4134862 0.039 20 516 5281 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1618-74C>T r.(=) p.(=) Unknown g.7686257G>A - XAB2_000018 rs114490675 0.003876 2 516 5443 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1675A>G r.(?) p.(Thr559Ala) Unknown g.7686126T>C - XAB2_000016 rs780231946 0.001938 1 516 8850 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1780+26_1780+28del r.(=) p.(=) Unknown g.7685993_7685995del - XAB2_000014 rs781148512 0.012 6 510 2614 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1780+36C>G r.(=) p.(=) Unknown g.7685985G>C - XAB2_000012 rs369665972 0.012 6 510 2614 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1780+40C>T r.(=) p.(=) Unknown g.7685981G>A - XAB2_000010 rs4134863 0.122 63 516 2839 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1797C>T r.(=) p.(=) Unknown g.7685906G>A - XAB2_000008 rs764609614 0.001938 1 516 6369 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1860C>T r.(=) p.(=) Unknown g.7685843G>A - XAB2_000025 rs794078 0.18 93 516 9330 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1980G>A r.(=) p.(=) Unknown g.7685547C>T - XAB2_000023 rs4134864 0.003876 2 516 7647 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1983C>T r.(=) p.(=) Unknown g.7685544G>A - XAB2_000021 rs772411529 0.001938 1 516 7871 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2073C>T r.(=) p.(=) Unknown g.7685454G>A - XAB2_000019 rs149923081 0.001938 1 516 9294 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2094+6G>A r.(=) p.(=) Unknown g.7685427C>T - XAB2_000017 - 0.001938 1 516 9289 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2244C>T r.(=) p.(=) Unknown g.7685183G>A - XAB2_000015 rs4134866 0.003876 2 516 8175 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2266+15C>G r.(=) p.(=) Unknown g.7685146G>C - XAB2_000013 rs145820901 0.003876 2 516 5464 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2266+73T>A r.(=) p.(=) Unknown g.7685088A>T - XAB2_000011 rs528425713 0.001938 1 516 2948 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2267-51G>A r.(=) p.(=) Unknown g.7685012C>T - XAB2_000009 rs375392651 0.001946 1 514 2718 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2396+21G>A r.(=) p.(=) Unknown g.7684811C>T - XAB2_000007 rs1222199327 0.001938 1 516 8889 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2397-28G>A r.(=) p.(=) Unknown g.7684770C>T - XAB2_000006 rs80188016 0.00969 5 516 8423 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2478C>T r.(=) p.(=) Unknown g.7684661G>A - XAB2_000005 rs141686756 0.001938 1 516 8618 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2507-44C>T r.(=) p.(=) Unknown g.7684577G>A - XAB2_000004 rs115862729 0.019 10 516 8042 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2538C>T r.(=) p.(=) Unknown g.7684502G>A - XAB2_000003 rs4134869 0.016 8 516 7065 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*15_*21del r.(=) p.(=) Unknown g.7684451_7684457del - XAB2_000002 rs143149642 0.005882 3 510 2123 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*50G>A r.(=) p.(=) Unknown g.7684422C>T - XAB2_000001 rs151052873 0.005882 3 510 2123 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
Legend