Full data view for gene ITGA11

Information The variants shown are described using the NM_001004439.1 transcript reference sequence.

323 entries on 4 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.72C>T r.(=) p.(=) g.68695349G>A Copied from the Exome Variant Server ITGA11_000323 1301/12538 1189/8410 112/4128 - - - - - - -
?/? c.92G>A r.(?) p.(Arg31Gln) g.68695329C>T Copied from the Exome Variant Server ITGA11_000322 1/12496 1/8386 0/4110 - - - - - - -
?/? c.93G>A r.(=) p.(=) g.68695328C>T Copied from the Exome Variant Server ITGA11_000321 5/12510 0/8394 5/4116 - - - - - - -
?/? c.96C>T r.(=) p.(=) g.68695325G>A Copied from the Exome Variant Server ITGA11_000320 2/12530 0/8404 2/4126 - - - - - - -
?/? c.114C>T r.(=) p.(=) g.68695307G>A Copied from the Exome Variant Server ITGA11_000319 1/12602 1/8428 0/4174 - - - - - - -
?/? c.117C>G r.(=) p.(=) g.68695304G>C Copied from the Exome Variant Server ITGA11_000318 1/12596 1/8428 0/4168 - - - - - - -
?/? c.144C>T r.(=) p.(=) g.68695277G>A Copied from the Exome Variant Server ITGA11_000317 4/12612 4/8428 0/4184 - - - - - - -
?/? c.162G>C r.(?) p.(Lys54Asn) g.68695259C>G Copied from the Exome Variant Server ITGA11_000316 1/12598 0/8424 1/4174 - - - - - - -
?/? c.164+12C>T r.(=) p.(=) g.68695245G>A Copied from the Exome Variant Server ITGA11_000315 1/12590 1/8428 0/4162 - - - - - - -
?/? c.164+13G>A r.(=) p.(=) g.68695244C>T Copied from the Exome Variant Server ITGA11_000314 1/12604 0/8434 1/4170 - - - - - - -
?/? c.164+16C>T r.(=) p.(=) g.68695241G>A Copied from the Exome Variant Server ITGA11_000313 3/12604 3/8428 0/4176 - - - - - - -
?/? c.164+17G>A r.(=) p.(=) g.68695240C>T Copied from the Exome Variant Server ITGA11_000312 1/12592 1/8418 0/4174 - - - - - - -
?/? c.164+37C>G r.(=) p.(=) g.68695220G>C Copied from the Exome Variant Server ITGA11_000311 28/12572 23/8420 5/4152 - - - - - - -
?/? c.165-51A>G r.(=) p.(=) g.68661673T>C Copied from the Exome Variant Server ITGA11_000310 1/6240 0/4224 1/2016 - - - - - - -
?/? c.165-31A>G r.(=) p.(=) g.68661653T>C Copied from the Exome Variant Server ITGA11_000309 42/12086 2/8234 40/3852 - - - - - - -
?/? c.165-25T>C r.(=) p.(=) g.68661647A>G Copied from the Exome Variant Server ITGA11_000308 6/12100 0/8244 6/3856 - - - - - - -
?/? c.178G>A r.(?) p.(Ala60Thr) g.68661609C>T Copied from the Exome Variant Server ITGA11_000307 1/12242 1/8306 0/3936 - - - - - - -
?/? c.210G>C r.(=) p.(=) g.68661577C>G Copied from the Exome Variant Server ITGA11_000306 21/12508 0/8404 21/4104 - - - - - - -
?/? c.216C>T r.(=) p.(=) g.68661571G>A Copied from the Exome Variant Server ITGA11_000305 38/12572 1/8430 37/4142 - - - - - - -
?/? c.230C>T r.(?) p.(Pro77Leu) g.68661557G>A Copied from the Exome Variant Server ITGA11_000304 1/12756 0/8490 1/4266 - - - - - - -
?/? c.265+5C>T r.spl? p.? g.68661517G>A Copied from the Exome Variant Server ITGA11_000303 3/12948 1/8568 2/4380 - - - - - - -
?/? c.265+6G>A r.(=) p.(=) g.68661516C>T Copied from the Exome Variant Server ITGA11_000302 1/12956 1/8572 0/4384 - - - - - - -
?/? c.265+39G>A r.(=) p.(=) g.68661483C>T Copied from the Exome Variant Server ITGA11_000301 1/12984 0/8592 1/4392 - - - - - - -
?/? c.266-43G>A r.(=) p.(=) g.68657179C>T Copied from the Exome Variant Server ITGA11_000300 2/12506 0/8398 2/4108 - - - - - - -
?/? c.266-27C>G r.(=) p.(=) g.68657163G>C Copied from the Exome Variant Server ITGA11_000299 1/12580 1/8442 0/4138 - - - - - - -
?/? c.286G>A r.(?) p.(Val96Met) g.68657116C>T Copied from the Exome Variant Server ITGA11_000298 11/12658 9/8448 2/4210 - - - - - - -
?/? c.291C>T r.(=) p.(=) g.68657111G>A Copied from the Exome Variant Server ITGA11_000297 13/12654 12/8440 1/4214 - - - - - - -
?/? c.311G>T r.(?) p.(Arg104Leu) g.68657091C>A Copied from the Exome Variant Server ITGA11_000296 1/12628 1/8422 0/4206 - - - - - - -
?/? c.328G>A r.(?) p.(Ala110Thr) g.68657074C>T Copied from the Exome Variant Server ITGA11_000295 2/12542 1/8388 1/4154 - - - - - - -
?/? c.358-20A>T r.(=) p.(=) g.68654062T>A Copied from the Exome Variant Server ITGA11_000294 25/12210 1/8290 24/3920 - - - - - - -
?/? c.358-10C>T r.(=) p.(=) g.68654052G>A Copied from the Exome Variant Server ITGA11_000293 274/12194 218/8288 56/3906 - - - - - - -
?/? c.369C>G r.(=) p.(=) g.68654031G>C Copied from the Exome Variant Server ITGA11_000292 1/12166 0/8274 1/3892 - - - - - - -
?/? c.406A>G r.(?) p.(Thr136Ala) g.68653994T>C Copied from the Exome Variant Server ITGA11_000291 1/12214 1/8284 0/3930 - - - - - - -
?/? c.441G>A r.(=) p.(=) g.68653959C>T Copied from the Exome Variant Server ITGA11_000290 1/12268 1/8306 0/3962 - - - - - - -
?/? c.453C>T r.(=) p.(=) g.68653947G>A Copied from the Exome Variant Server ITGA11_000289 1/12270 1/8312 0/3958 - - - - - - -
?/? c.454G>A r.(?) p.(Val152Met) g.68653946C>T Copied from the Exome Variant Server ITGA11_000288 12/12296 12/8320 0/3976 - - - - - - -
?/? c.473-47G>A r.(=) p.(=) g.68650970C>T Copied from the Exome Variant Server ITGA11_000287 30/12850 0/8564 30/4286 - - - - - - -
?/? c.473-18T>C r.(=) p.(=) g.68650941A>G Copied from the Exome Variant Server ITGA11_000286 1/12950 0/8594 1/4356 - - - - - - -
?/? c.473-12C>T r.(=) p.(=) g.68650935G>A Copied from the Exome Variant Server ITGA11_000285 3/12942 0/8594 3/4348 - - - - - - -
?/? c.483C>T r.(=) p.(=) g.68650913G>A Copied from the Exome Variant Server ITGA11_000284 690/12970 4/8596 686/4374 - - - - - - -
?/? c.489G>T r.(?) p.(Met163Ile) g.68650907C>A Copied from the Exome Variant Server ITGA11_000283 1/12976 0/8596 1/4380 - - - - - - -
?/? c.496G>A r.(?) p.(Val166Ile) g.68650900C>T Copied from the Exome Variant Server ITGA11_000282 1/12980 1/8596 0/4384 - - - - - - -
?/? c.601-50A>T r.(=) p.(=) g.68649687T>A Copied from the Exome Variant Server ITGA11_000281 1/6568 1/4344 0/2224 - - - - - - -
?/? c.601-39G>A r.(=) p.(=) g.68649676C>T Copied from the Exome Variant Server ITGA11_000280 1/12384 1/8346 0/4038 - - - - - - -
?/? c.601-9C>T r.(=) p.(=) g.68649646G>A Copied from the Exome Variant Server ITGA11_000279 2/12504 2/8396 0/4108 - - - - - - -
?/? c.601-7C>T r.(=) p.(=) g.68649644G>A Copied from the Exome Variant Server ITGA11_000278 2/12502 0/8396 2/4106 - - - - - - -
?/? c.650A>G r.(?) p.(Asn217Ser) g.68649588T>C Copied from the Exome Variant Server ITGA11_000277 1/12460 1/8372 0/4088 - - - - - - -
?/? c.651C>T r.(=) p.(=) g.68649587G>A Copied from the Exome Variant Server ITGA11_000276 9856/12458 6314/8370 3542/4088 - - - - - - -
?/? c.664G>A r.(?) p.(Val222Ile) g.68649574C>T Copied from the Exome Variant Server ITGA11_000275 3/12356 3/8338 0/4018 - - - - - - -
?/? c.711A>C r.(=) p.(=) g.68649527T>G Copied from the Exome Variant Server ITGA11_000274 1/12122 1/8274 0/3848 - - - - - - -
?/? c.721C>T r.(?) p.(Arg241Trp) g.68649517G>A Copied from the Exome Variant Server ITGA11_000273 1/12068 0/8258 1/3810 - - - - - - -
?/? c.722G>A r.(?) p.(Arg241Gln) g.68649516C>T Copied from the Exome Variant Server ITGA11_000272 2/12042 0/8252 2/3790 - - - - - - -
?/? c.725C>T r.(?) p.(Thr242Met) g.68649513G>A Copied from the Exome Variant Server ITGA11_000271 2/12030 1/8246 1/3784 - - - - - - -
?/? c.726G>A r.(=) p.(=) g.68649512C>T Copied from the Exome Variant Server ITGA11_000270 1/11996 0/8236 1/3760 - - - - - - -
?/? c.748C>T r.(?) p.(Arg250Cys) g.68649490G>A Copied from the Exome Variant Server ITGA11_000269 1/11866 1/8188 0/3678 - - - - - - -
?/? c.749+11del r.(=) p.(=) g.68649478del Copied from the Exome Variant Server ITGA11_000268 36/11344 30/7820 6/3524 - - - - - - -
?/? c.749+11dup r.(=) p.(=) g.68649478dup Copied from the Exome Variant Server ITGA11_000267 13/11344 7/7820 6/3524 - - - - - - -
?/? c.749+25A>T r.(=) p.(=) g.68649464T>A Copied from the Exome Variant Server ITGA11_000266 1/11762 1/8132 0/3630 - - - - - - -
?/? c.749+36A>C r.(=) p.(=) g.68649453T>G Copied from the Exome Variant Server ITGA11_000265 11/11778 0/8138 11/3640 - - - - - - -
?/? c.750-32T>C r.(=) p.(=) g.68643772A>G Copied from the Exome Variant Server ITGA11_000264 702/12062 224/8240 478/3822 - - - - - - -
?/? c.750C>G r.(=) p.(=) g.68643740G>C Copied from the Exome Variant Server ITGA11_000263 72/12150 70/8292 2/3858 - - - - - - -
?/? c.753A>G r.(=) p.(=) g.68643737T>C Copied from the Exome Variant Server ITGA11_000262 1/12176 1/8304 0/3872 - - - - - - -
?/? c.830G>T r.(?) p.(Ser277Ile) g.68643660C>A Copied from the Exome Variant Server ITGA11_000261 1/12602 1/8450 0/4152 - - - - - - -
?/? c.831C>T r.(=) p.(=) g.68643659G>A Copied from the Exome Variant Server ITGA11_000260 87/12604 78/8450 9/4154 - - - - - - -
?/? c.846G>A r.(=) p.(=) g.68643644C>T Copied from the Exome Variant Server ITGA11_000259 1/12594 1/8436 0/4158 - - - - - - -
?/? c.861C>T r.(=) p.(=) g.68643629G>A Copied from the Exome Variant Server ITGA11_000258 2/12558 0/8418 2/4140 - - - - - - -
?/? c.867A>G r.(=) p.(=) g.68643623T>C Copied from the Exome Variant Server ITGA11_000257 1/12550 1/8412 0/4138 - - - - - - -
?/? c.885T>C r.(=) p.(=) g.68643605A>G Copied from the Exome Variant Server ITGA11_000256 1/12462 0/8380 1/4082 - - - - - - -
?/? c.894+11G>A r.(=) p.(=) g.68643585C>T Copied from the Exome Variant Server ITGA11_000255 1/12330 1/8338 0/3992 - - - - - - -
?/? c.894+14C>T r.(=) p.(=) g.68643582G>A Copied from the Exome Variant Server ITGA11_000254 1/12288 1/8326 0/3962 - - - - - - -
?/? c.894+15G>A r.(=) p.(=) g.68643581C>T Copied from the Exome Variant Server ITGA11_000253 49/12246 47/8310 2/3936 - - - - - - -
?/? c.894+41G>C r.(=) p.(=) g.68643555C>G Copied from the Exome Variant Server ITGA11_000252 1/12100 0/8254 1/3846 - - - - - - -
?/? c.895-32G>T r.(=) p.(=) g.68643152C>A Copied from the Exome Variant Server ITGA11_000251 2/12018 0/8228 2/3790 - - - - - - -
?/? c.895-3C>A r.spl? p.? g.68643123G>T Copied from the Exome Variant Server ITGA11_000250 1/11976 1/8222 0/3754 - - - - - - -
?/? c.930A>G r.(=) p.(=) g.68643085T>C Copied from the Exome Variant Server ITGA11_000249 1/11972 0/8220 1/3752 - - - - - - -
?/? c.1004A>G r.(?) p.(Glu335Gly) g.68643011T>C Copied from the Exome Variant Server ITGA11_000248 1/12296 1/8362 0/3934 - - - - - - -
?/? c.1027G>A r.(?) p.(Asp343Asn) g.68642988C>T Copied from the Exome Variant Server ITGA11_000247 1/12330 1/8362 0/3968 - - - - - - -
?/? c.1059A>G r.(=) p.(=) g.68642956T>C Copied from the Exome Variant Server ITGA11_000246 1/12308 1/8336 0/3972 - - - - - - -
?/? c.1060+6C>A r.(=) p.(=) g.68642949G>T Copied from the Exome Variant Server ITGA11_000245 1/12286 1/8324 0/3962 - - - - - - -
?/? c.1060+24G>T r.(=) p.(=) g.68642931C>A Copied from the Exome Variant Server ITGA11_000244 1/12238 0/8312 1/3926 - - - - - - -
?/? c.1060+37C>T r.(=) p.(=) g.68642918G>A Copied from the Exome Variant Server ITGA11_000243 12/12190 0/8288 12/3902 - - - - - - -
?/? c.1061-50C>T r.(=) p.(=) g.68641288G>A Copied from the Exome Variant Server ITGA11_000242 1/6644 1/4382 0/2262 - - - - - - -
?/? c.1061G>A r.(?) p.(Gly354Asp) g.68641238C>T Copied from the Exome Variant Server ITGA11_000241 3/12552 3/8422 0/4130 - - - - - - -
?/? c.1074C>T r.(=) p.(=) g.68641225G>A Copied from the Exome Variant Server ITGA11_000239 1/12530 0/8414 1/4116 - - - - - - -
?/? c.1099T>G r.(?) p.(Ser367Ala) g.68641200A>C Copied from the Exome Variant Server ITGA11_000237 1/12470 0/8390 1/4080 - - - - - - -
?/? c.1119G>A r.(=) p.(=) g.68641180C>T Copied from the Exome Variant Server ITGA11_000240 2/12490 0/8394 2/4096 - - - - - - -
?/? c.1131+13G>A r.(=) p.(=) g.68641155C>T Copied from the Exome Variant Server ITGA11_000238 1/12516 1/8396 0/4120 - - - - - - -
?/? c.1131+17C>T r.(=) p.(=) g.68641151G>A Copied from the Exome Variant Server ITGA11_000236 210/12516 154/8396 56/4120 - - - - - - -
?/? c.1131+23C>T r.(=) p.(=) g.68641145G>A Copied from the Exome Variant Server ITGA11_000235 1/12500 1/8394 0/4106 - - - - - - -
?/? c.1131+24A>G r.(=) p.(=) g.68641144T>C Copied from the Exome Variant Server ITGA11_000234 3/12486 3/8392 0/4094 - - - - - - -
?/? c.1131+40C>G r.(=) p.(=) g.68641128G>C Copied from the Exome Variant Server ITGA11_000233 1/12472 0/8380 1/4092 - - - - - - -
?/? c.1131+44C>T r.(=) p.(=) g.68641124G>A Copied from the Exome Variant Server ITGA11_000232 2/12470 1/8380 1/4090 - - - - - - -
?/? c.1132-41A>G r.(=) p.(=) g.68632023T>C Copied from the Exome Variant Server ITGA11_000231 1/12444 0/8366 1/4078 - - - - - - -
?/? c.1132-36G>T r.(=) p.(=) g.68632018C>A Copied from the Exome Variant Server ITGA11_000230 3/12470 0/8382 3/4088 - - - - - - -
?/? c.1132-18T>G r.(=) p.(=) g.68632000A>C Copied from the Exome Variant Server ITGA11_000229 1/12512 1/8398 0/4114 - - - - - - -
?/? c.1132-10C>T r.(=) p.(=) g.68631992G>A Copied from the Exome Variant Server ITGA11_000228 1/12474 1/8386 0/4088 - - - - - - -
?/? c.1152C>T r.(=) p.(=) g.68631962G>A Copied from the Exome Variant Server ITGA11_000227 2/12466 0/8380 2/4086 - - - - - - -
?/? c.1157G>A r.(?) p.(Gly386Asp) g.68631957C>T Copied from the Exome Variant Server ITGA11_000226 1/12468 1/8376 0/4092 - - - - - - -
?/? c.1161C>G r.(=) p.(=) g.68631953G>C Copied from the Exome Variant Server ITGA11_000225 36/12458 0/8372 36/4086 - - - - - - -
?/? c.1182G>A r.(=) p.(=) g.68631932C>T Copied from the Exome Variant Server ITGA11_000224 1/12406 1/8356 0/4050 - - - - - - -
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