All transcript variants in gene ITGB7

Information The variants shown are described using the NM_000889.1 transcript reference sequence.

179 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-3-30C>T r.(=) p.(=) g.53594260G>A Copied from the Exome Variant Server ITGB7_000179 640/13006 576/8600 64/4406
?/? c.14C>G r.(?) p.(Pro5Arg) g.53594214G>C Copied from the Exome Variant Server ITGB7_000178 3/13006 0/8600 3/4406
?/? c.29T>C r.(?) p.(Leu10Ser) g.53594199A>G Copied from the Exome Variant Server ITGB7_000177 1/13006 1/8600 0/4406
?/? c.42G>A r.(=) p.(=) g.53594186C>T Copied from the Exome Variant Server ITGB7_000176 2/13006 0/8600 2/4406
?/? c.54G>A r.(=) p.(=) g.53594174C>T Copied from the Exome Variant Server ITGB7_000175 15/13006 0/8600 15/4406
?/? c.66C>T r.(=) p.(=) g.53594162G>A Copied from the Exome Variant Server ITGB7_000174 1/13006 1/8600 0/4406
?/? c.76C>T r.(?) p.(Pro26Ser) g.53594152G>A Copied from the Exome Variant Server ITGB7_000173 2/13006 0/8600 2/4406
?/? c.84A>G r.(=) p.(=) g.53594144T>C Copied from the Exome Variant Server ITGB7_000172 3/13006 2/8600 1/4406
?/? c.87G>T r.(=) p.(=) g.53594141C>A Copied from the Exome Variant Server ITGB7_000171 1/13006 1/8600 0/4406
?/? c.93C>T r.(=) p.(=) g.53594135G>A Copied from the Exome Variant Server ITGB7_000170 2/13006 2/8600 0/4406
?/? c.103C>T r.(?) p.(Arg35Trp) g.53594125G>A Copied from the Exome Variant Server ITGB7_000169 2/13006 2/8600 0/4406
?/? c.104G>A r.(?) p.(Arg35Gln) g.53594124C>T Copied from the Exome Variant Server ITGB7_000167 18/13006 14/8600 4/4406
?/? c.155A>G r.(?) p.(Gln52Arg) g.53594073T>C Copied from the Exome Variant Server ITGB7_000165 1/13006 1/8600 0/4406
?/? c.168C>T r.(=) p.(=) g.53594060G>A Copied from the Exome Variant Server ITGB7_000163 1/13006 1/8600 0/4406
?/? c.184G>A r.(?) p.(Ala62Thr) g.53594044C>T Copied from the Exome Variant Server ITGB7_000161 2/13006 0/8600 2/4406
?/? c.191G>A r.(?) p.(Cys64Tyr) g.53594037C>T Copied from the Exome Variant Server ITGB7_000168 1/13006 0/8600 1/4406
?/? c.201+30T>C r.(=) p.(=) g.53593997A>G Copied from the Exome Variant Server ITGB7_000166 1/13006 1/8600 0/4406
?/? c.201+37G>A r.(=) p.(=) g.53593990C>T Copied from the Exome Variant Server ITGB7_000164 17/13006 15/8600 2/4406
?/? c.201+51G>C r.(=) p.(=) g.53593976C>G Copied from the Exome Variant Server ITGB7_000162 1/13006 1/8600 0/4406
?/? c.290A>T r.(?) p.(Glu97Val) g.53591647T>A Copied from the Exome Variant Server ITGB7_000160 120/9546 108/6538 12/3008
?/? c.403+39C>G r.(=) p.(=) g.53591495G>C Copied from the Exome Variant Server ITGB7_000159 1/12966 1/8582 0/4384
?/? c.404-42T>A r.(=) p.(=) g.53591489A>T Copied from the Exome Variant Server ITGB7_000158 1/12974 1/8584 0/4390
?/? c.404-33G>T r.(=) p.(=) g.53591480C>A Copied from the Exome Variant Server ITGB7_000157 1/12988 1/8590 0/4398
?/? c.404-29T>C r.(=) p.(=) g.53591476A>G Copied from the Exome Variant Server ITGB7_000156 1/12990 0/8592 1/4398
?/? c.404-5C>G r.spl? p.? g.53591452G>C Copied from the Exome Variant Server ITGB7_000155 1/13002 1/8600 0/4402
?/? c.441T>A r.(=) p.(=) g.53591410A>T Copied from the Exome Variant Server ITGB7_000154 1/13006 1/8600 0/4406
?/? c.451C>G r.(?) p.(Pro151Ala) g.53591400G>C Copied from the Exome Variant Server ITGB7_000153 1/13006 1/8600 0/4406
?/? c.468C>T r.(=) p.(=) g.53591383G>A Copied from the Exome Variant Server ITGB7_000152 2/13006 0/8600 2/4406
?/? c.477C>T r.(=) p.(=) g.53591374G>A Copied from the Exome Variant Server ITGB7_000151 4/13006 4/8600 0/4406
?/? c.574+8G>T r.(=) p.(=) g.53591269C>A Copied from the Exome Variant Server ITGB7_000150 18/13006 0/8600 18/4406
?/? c.574+21del r.(=) p.(=) g.53591256del Copied from the Exome Variant Server ITGB7_000149 1/12518 1/8254 0/4264
?/? c.574+25C>G r.(=) p.(=) g.53591252G>C Copied from the Exome Variant Server ITGB7_000148 2/13006 0/8600 2/4406
?/? c.599C>T r.(?) p.(Thr200Met) g.53590580G>A Copied from the Exome Variant Server ITGB7_000147 6/13006 5/8600 1/4406
?/? c.603G>A r.(=) p.(=) g.53590576C>T Copied from the Exome Variant Server ITGB7_000146 4/13006 4/8600 0/4406
?/? c.617G>A r.(?) p.(Ser206Asn) g.53590562C>T Copied from the Exome Variant Server ITGB7_000145 1/13006 1/8600 0/4406
?/? c.618C>T r.(=) p.(=) g.53590561G>A Copied from the Exome Variant Server ITGB7_000144 1/13006 1/8600 0/4406
?/? c.631A>C r.(?) p.(Lys211Gln) g.53590548T>G Copied from the Exome Variant Server ITGB7_000143 1/13006 1/8600 0/4406
?/? c.637C>A r.(?) p.(Arg213Ser) g.53590542G>T Copied from the Exome Variant Server ITGB7_000142 5/13006 5/8600 0/4406
?/? c.642C>A r.(?) p.(His214Gln) g.53590537G>T Copied from the Exome Variant Server ITGB7_000141 1/13006 1/8600 0/4406
?/? c.696G>A r.(=) p.(=) g.53590483C>T Copied from the Exome Variant Server ITGB7_000140 10/13004 0/8600 10/4404
?/? c.708G>T r.(=) p.(=) g.53590471C>A Copied from the Exome Variant Server ITGB7_000139 15/13006 0/8600 15/4406
?/? c.735G>A r.(=) p.(=) g.53590444C>T Copied from the Exome Variant Server ITGB7_000138 1/13004 0/8598 1/4406
?/? c.740G>T r.(?) p.(Gly247Val) g.53590439C>A Copied from the Exome Variant Server ITGB7_000137 1/13006 1/8600 0/4406
?/? c.748A>T r.(?) p.(Ser250Cys) g.53590431T>A Copied from the Exome Variant Server ITGB7_000136 1/13006 0/8600 1/4406
?/? c.768C>T r.(=) p.(=) g.53590411G>A Copied from the Exome Variant Server ITGB7_000135 1/13006 1/8600 0/4406
?/? c.771G>A r.(=) p.(=) g.53590408C>T Copied from the Exome Variant Server ITGB7_000134 1/13006 1/8600 0/4406
?/? c.799C>T r.(?) p.(Gln267*) g.53590380G>A Copied from the Exome Variant Server ITGB7_000133 1/13004 1/8598 0/4406
?/? c.816+16G>A r.(=) p.(=) g.53590347C>T Copied from the Exome Variant Server ITGB7_000132 434/13004 388/8598 46/4406
?/? c.816+23_816+24insA r.(=) p.(=) g.53590339_53590340insT Copied from the Exome Variant Server ITGB7_000131 2/12518 2/8254 0/4264
?/? c.816+25A>G r.(=) p.(=) g.53590338T>C Copied from the Exome Variant Server ITGB7_000130 1/13006 1/8600 0/4406
?/? c.816+39T>C r.(=) p.(=) g.53590324A>G Copied from the Exome Variant Server ITGB7_000129 1/13006 1/8600 0/4406
?/? c.839T>C r.(?) p.(Val280Ala) g.53589961A>G Copied from the Exome Variant Server ITGB7_000128 1/13006 1/8600 0/4406
?/? c.850C>G r.(?) p.(Leu284Val) g.53589950G>C Copied from the Exome Variant Server ITGB7_000127 3/13006 3/8600 0/4406
?/? c.867C>T r.(=) p.(=) g.53589933G>A Copied from the Exome Variant Server ITGB7_000126 5/13006 1/8600 4/4406
?/? c.885T>C r.(=) p.(=) g.53589915A>G Copied from the Exome Variant Server ITGB7_000125 1/13006 0/8600 1/4406
?/? c.891C>T r.(=) p.(=) g.53589909G>A Copied from the Exome Variant Server ITGB7_000124 2/13006 1/8600 1/4406
?/? c.903C>T r.(=) p.(=) g.53589897G>A Copied from the Exome Variant Server ITGB7_000123 1/13006 1/8600 0/4406
?/? c.952C>T r.(?) p.(Leu318Phe) g.53589848G>A Copied from the Exome Variant Server ITGB7_000122 1/13006 0/8600 1/4406
?/? c.975+3G>A r.spl? p.? g.53589822C>T Copied from the Exome Variant Server ITGB7_000121 9/13006 8/8600 1/4406
?/? c.975+37A>G r.(=) p.(=) g.53589788T>C Copied from the Exome Variant Server ITGB7_000120 1/13006 0/8600 1/4406
?/? c.976-49T>C r.(=) p.(=) g.53589554A>G Copied from the Exome Variant Server ITGB7_000119 5/13006 0/8600 5/4406
?/? c.976-48T>C r.(=) p.(=) g.53589553A>G Copied from the Exome Variant Server ITGB7_000118 1/13006 1/8600 0/4406
?/? c.976-45G>T r.(=) p.(=) g.53589550C>A Copied from the Exome Variant Server ITGB7_000116 2/13006 0/8600 2/4406
?/? c.976-6T>C r.(=) p.(=) g.53589511A>G Copied from the Exome Variant Server ITGB7_000114 1142/13006 487/8600 655/4406
?/? c.976-5C>A r.spl? p.? g.53589510G>T Copied from the Exome Variant Server ITGB7_000112 1/13006 0/8600 1/4406
?/? c.1053C>T r.(=) p.(=) g.53589428G>A Copied from the Exome Variant Server ITGB7_000117 1/13006 1/8600 0/4406
?/? c.1054G>A r.(?) p.(Ala352Thr) g.53589427C>T Copied from the Exome Variant Server ITGB7_000115 1/13006 1/8600 0/4406
?/? c.1056A>G r.(=) p.(=) g.53589425T>C Copied from the Exome Variant Server ITGB7_000113 1/13006 1/8600 0/4406
?/? c.1072G>A r.(?) p.(Glu358Lys) g.53589247C>T Copied from the Exome Variant Server ITGB7_000111 1/13006 0/8600 1/4406
?/? c.1103T>C r.(?) p.(Val368Ala) g.53589216A>G Copied from the Exome Variant Server ITGB7_000110 1/13006 0/8600 1/4406
?/? c.1131C>T r.(=) p.(=) g.53589188G>A Copied from the Exome Variant Server ITGB7_000109 2/13006 2/8600 0/4406
?/? c.1161+9C>A r.(=) p.(=) g.53589149G>T Copied from the Exome Variant Server ITGB7_000108 1/13006 1/8600 0/4406
?/? c.1161+25T>C r.(=) p.(=) g.53589133A>G Copied from the Exome Variant Server ITGB7_000107 1/13006 1/8600 0/4406
?/? c.1161+50G>A r.(=) p.(=) g.53589108C>T Copied from the Exome Variant Server ITGB7_000106 2/13006 2/8600 0/4406
?/? c.1162-52T>G r.(=) p.(=) g.53588180A>C Copied from the Exome Variant Server ITGB7_000105 284/7272 3/4618 281/2654
?/? c.1162-32C>T r.(=) p.(=) g.53588160G>A Copied from the Exome Variant Server ITGB7_000104 1/13006 0/8600 1/4406
?/? c.1162-30C>T r.(=) p.(=) g.53588158G>A Copied from the Exome Variant Server ITGB7_000103 5/13006 5/8600 0/4406
?/? c.1162-29G>A r.(=) p.(=) g.53588157C>T Copied from the Exome Variant Server ITGB7_000102 1/13006 1/8600 0/4406
?/? c.1162-16C>T r.(=) p.(=) g.53588144G>A Copied from the Exome Variant Server ITGB7_000101 1/13006 0/8600 1/4406
?/? c.1162-15G>A r.(=) p.(=) g.53588143C>T Copied from the Exome Variant Server ITGB7_000100 1/13006 1/8600 0/4406
?/? c.1162-10C>A r.(=) p.(=) g.53588138G>T Copied from the Exome Variant Server ITGB7_000099 1/13006 1/8600 0/4406
?/? c.1177G>C r.(?) p.(Val393Leu) g.53588113C>G Copied from the Exome Variant Server ITGB7_000098 36/13006 2/8600 34/4406
?/? c.1193_1194del r.(?) p.(Ser398Phefs*15) g.53588096_53588097del Copied from the Exome Variant Server ITGB7_000097 1/12510 1/8246 0/4264
?/? c.1251G>A r.(=) p.(=) g.53588039C>T Copied from the Exome Variant Server ITGB7_000096 1/13006 1/8600 0/4406
?/? c.1254G>T r.(?) p.(Arg418Ser) g.53588036C>A Copied from the Exome Variant Server ITGB7_000095 1/13006 0/8600 1/4406
?/? c.1274G>A r.(?) p.(Arg425Gln) g.53588016C>T Copied from the Exome Variant Server ITGB7_000094 4/13006 3/8600 1/4406
?/? c.1295G>A r.(?) p.(Arg432Gln) g.53587995C>T Copied from the Exome Variant Server ITGB7_000093 1/13006 0/8600 1/4406
?/? c.1298T>G r.(?) p.(Ile433Ser) g.53587992A>C Copied from the Exome Variant Server ITGB7_000092 2/13006 0/8600 2/4406
?/? c.1308+30G>A r.(=) p.(=) g.53587952C>T Copied from the Exome Variant Server ITGB7_000091 165/13006 151/8600 14/4406
?/? c.1308+45G>A r.(=) p.(=) g.53587937C>T Copied from the Exome Variant Server ITGB7_000090 11/13006 0/8600 11/4406
?/? c.1309-52del r.(=) p.(=) g.53587737del Copied from the Exome Variant Server ITGB7_000089 422/12506 5/8248 417/4258
?/? c.1309-42G>T r.(=) p.(=) g.53587727C>A Copied from the Exome Variant Server ITGB7_000088 3/13002 3/8596 0/4406
?/? c.1309-25T>C r.(=) p.(=) g.53587710A>G Copied from the Exome Variant Server ITGB7_000087 7/13004 7/8598 0/4406
?/? c.1352A>T r.(?) p.(Glu451Val) g.53587642T>A Copied from the Exome Variant Server ITGB7_000086 1/13006 0/8600 1/4406
?/? c.1368G>A r.(=) p.(=) g.53587626C>T Copied from the Exome Variant Server ITGB7_000085 1/13006 0/8600 1/4406
?/? c.1372C>T r.(?) p.(Arg458Trp) g.53587622G>A Copied from the Exome Variant Server ITGB7_000084 1/13006 1/8600 0/4406
?/? c.1398G>C r.(=) p.(=) g.53587596C>G Copied from the Exome Variant Server ITGB7_000083 34/13006 0/8600 34/4406
?/? c.1400T>C r.(?) p.(Ile467Thr) g.53587594A>G Copied from the Exome Variant Server ITGB7_000082 2/13006 2/8600 0/4406
?/? c.1408T>C r.(=) p.(=) g.53587586A>G Copied from the Exome Variant Server ITGB7_000081 33/13006 1/8600 32/4406
?/? c.1476G>A r.(=) p.(=) g.53587518C>T Copied from the Exome Variant Server ITGB7_000080 1/13006 0/8600 1/4406
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