Unique variants in gene TLN1

Information The variants shown are described using the NM_006289.3 transcript reference sequence.

436 entries on 5 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.70A>G r.(?) p.(Met24Val) g.35725622T>C Copied from the Exome Variant Server TLN1_000433 1/13006 1/8600 0/4406
1 c.75_76del r.(?) p.(Tyr26Argfs*8) g.35725616_35725617del Copied from the Exome Variant Server TLN1_000432 1/12518 1/8254 0/4264
1 c.118C>T r.(?) p.(Pro40Ser) g.35725574G>A Copied from the Exome Variant Server TLN1_000431 2/13006 2/8600 0/4406
1 c.130+32G>C r.(=) p.(=) g.35725530C>G Copied from the Exome Variant Server TLN1_000430 1/13006 0/8600 1/4406
1 c.130+40A>G r.(=) p.(=) g.35725522T>C Copied from the Exome Variant Server TLN1_000429 1/13006 1/8600 0/4406
1 c.170A>G r.(?) p.(Lys57Arg) g.35725279T>C Copied from the Exome Variant Server TLN1_000428 1/13006 0/8600 1/4406
1 c.228+33C>A r.(=) p.(=) g.35725188G>T Copied from the Exome Variant Server TLN1_000427 14/13006 12/8600 2/4406
1 c.228+36T>C r.(=) p.(=) g.35725185A>G Copied from the Exome Variant Server TLN1_000426 1/13006 1/8600 0/4406
1 c.228+51C>T r.(=) p.(=) g.35725170G>A Copied from the Exome Variant Server TLN1_000425 8/13006 0/8600 8/4406
1 c.229-21C>A r.(=) p.(=) g.35724977G>T Copied from the Exome Variant Server TLN1_000424 1/13006 0/8600 1/4406
1 c.235A>G r.(?) p.(Met79Val) g.35724950T>C Copied from the Exome Variant Server TLN1_000423 2/13006 0/8600 2/4406
1 c.243C>T r.(=) p.(=) g.35724942G>A Copied from the Exome Variant Server TLN1_000422 6/13006 0/8600 6/4406
1 c.342C>G r.(=) p.(=) g.35724843G>C Copied from the Exome Variant Server TLN1_000421 6/13006 5/8600 1/4406
1 c.355A>G r.(?) p.(Ile119Val) g.35724830T>C Copied from the Exome Variant Server TLN1_000420 1/13006 1/8600 0/4406
1 c.358+39A>G r.(=) p.(=) g.35724788T>C Copied from the Exome Variant Server TLN1_000419 2/13006 0/8600 2/4406
1 c.358+42C>G r.(=) p.(=) g.35724785G>C Copied from the Exome Variant Server TLN1_000418 71/13006 0/8600 71/4406
1 c.358+52_358+53del r.(=) p.(=) g.35724774_35724775del Copied from the Exome Variant Server TLN1_000417 1/12512 1/8250 0/4262
1 c.359-51A>G r.(=) p.(=) g.35724772T>C Copied from the Exome Variant Server TLN1_000416 7/13006 0/8600 7/4406
1 c.444C>T r.(=) p.(=) g.35724636G>A Copied from the Exome Variant Server TLN1_000415 1/13006 0/8600 1/4406
1 c.486G>A r.(=) p.(=) g.35724594C>T Copied from the Exome Variant Server TLN1_000414 1/13006 0/8600 1/4406
1 c.501A>G r.(=) p.(=) g.35724579T>C Copied from the Exome Variant Server TLN1_000413 1/13006 1/8600 0/4406
1 c.511+20_511+21insA r.(=) p.(=) g.35724548_35724549insT Copied from the Exome Variant Server TLN1_000412 1/12518 1/8254 0/4264
1 c.511+34A>G r.(=) p.(=) g.35724535T>C Copied from the Exome Variant Server TLN1_000411 1/13006 1/8600 0/4406
1 c.511+35del r.(=) p.(=) g.35724534del Copied from the Exome Variant Server TLN1_000410 1/12518 1/8254 0/4264
1 c.511+43G>A r.(=) p.(=) g.35724526C>T Copied from the Exome Variant Server TLN1_000409 2/13006 2/8600 0/4406
1 c.512-42G>A r.(=) p.(=) g.35724373C>T Copied from the Exome Variant Server TLN1_000408 1/13006 0/8600 1/4406
1 c.512-38_512-37insA r.(=) p.(=) g.35724368_35724369insT Copied from the Exome Variant Server TLN1_000407 9/12518 0/8254 9/4264
1 c.512-29T>G r.(=) p.(=) g.35724360A>C Copied from the Exome Variant Server TLN1_000406 1/13006 1/8600 0/4406
1 c.528T>C r.(=) p.(=) g.35724315A>G Copied from the Exome Variant Server TLN1_000405 1/13006 0/8600 1/4406
1 c.532C>T r.(?) p.(Arg178Trp) g.35724311G>A Copied from the Exome Variant Server TLN1_000404 1/13006 0/8600 1/4406
1 c.564C>T r.(=) p.(=) g.35724279G>A Copied from the Exome Variant Server TLN1_000403 23/13006 0/8600 23/4406
1 c.570G>A r.(=) p.(=) g.35724273C>T Copied from the Exome Variant Server TLN1_000402 1/13006 1/8600 0/4406
1 c.582G>A r.(=) p.(=) g.35724261C>T Copied from the Exome Variant Server TLN1_000401 4/13006 3/8600 1/4406
1 c.654+46C>T r.(=) p.(=) g.35724143G>A Copied from the Exome Variant Server TLN1_000400 1/13006 1/8600 0/4406
1 c.655-52C>T r.(=) p.(=) g.35724128G>A Copied from the Exome Variant Server TLN1_000399 2/7272 1/4618 1/2654
1 c.655-51G>A r.(=) p.(=) g.35724127C>T Copied from the Exome Variant Server TLN1_000397 1/13006 1/8600 0/4406
1 c.655-24G>T r.(=) p.(=) g.35724100C>A Copied from the Exome Variant Server TLN1_000395 1/13006 0/8600 1/4406
1 c.655-23C>T r.(=) p.(=) g.35724099G>A Copied from the Exome Variant Server TLN1_000393 1/13006 0/8600 1/4406
1 c.655-6C>T r.(=) p.(=) g.35724082G>A Copied from the Exome Variant Server TLN1_000398 1/13006 1/8600 0/4406
1 c.782+49A>T r.(=) p.(=) g.35723900T>A Copied from the Exome Variant Server TLN1_000396 1/13006 0/8600 1/4406
1 c.783-53A>G r.(=) p.(=) g.35722971T>C Copied from the Exome Variant Server TLN1_000394 1/4566 1/3182 0/1384
1 c.783-39G>A r.(=) p.(=) g.35722957C>T Copied from the Exome Variant Server TLN1_000392 1/13006 1/8600 0/4406
1 c.783-27A>T r.(=) p.(=) g.35722945T>A Copied from the Exome Variant Server TLN1_000391 2/13006 2/8600 0/4406
1 c.802A>G r.(?) p.(Lys268Glu) g.35722899T>C Copied from the Exome Variant Server TLN1_000390 1/13006 1/8600 0/4406
1 c.807G>A r.(=) p.(=) g.35722894C>T Copied from the Exome Variant Server TLN1_000389 1/13006 1/8600 0/4406
1 c.838T>C r.(?) p.(Phe280Leu) g.35722863A>G Copied from the Exome Variant Server TLN1_000388 1/13006 1/8600 0/4406
1 c.843+36G>A r.(=) p.(=) g.35722822C>T Copied from the Exome Variant Server TLN1_000387 5/13006 4/8600 1/4406
1 c.843+37C>T r.(=) p.(=) g.35722821G>A Copied from the Exome Variant Server TLN1_000386 1/13006 1/8600 0/4406
1 c.843+38G>A r.(=) p.(=) g.35722820C>T Copied from the Exome Variant Server TLN1_000385 2/13006 1/8600 1/4406
1 c.843+69del r.(=) p.(=) g.35722789del Copied from the Exome Variant Server TLN1_000384 2/12518 2/8254 0/4264
1 c.844-30_844-29del r.(=) p.(=) g.35722249_35722250del Copied from the Exome Variant Server TLN1_000383 1/12518 1/8254 0/4264
1 c.844-20C>A r.(=) p.(=) g.35722240G>T Copied from the Exome Variant Server TLN1_000382 1/13006 0/8600 1/4406
1 c.844-15C>G r.(=) p.(=) g.35722235G>C Copied from the Exome Variant Server TLN1_000381 201/13006 2/8600 199/4406
1 c.856T>C r.(?) p.(Cys286Arg) g.35722208A>G Copied from the Exome Variant Server TLN1_000380 2/13006 1/8600 1/4406
1 c.889C>T r.(?) p.(Arg297Cys) g.35722175G>A Copied from the Exome Variant Server TLN1_000379 1/13006 1/8600 0/4406
1 c.894C>T r.(=) p.(=) g.35722170G>A Copied from the Exome Variant Server TLN1_000378 22/13006 21/8600 1/4406
1 c.915C>A r.(=) p.(=) g.35722149G>T Copied from the Exome Variant Server TLN1_000377 2/13006 2/8600 0/4406
1 c.937T>C r.(?) p.(Phe313Leu) g.35722127A>G Copied from the Exome Variant Server TLN1_000376 1/13006 1/8600 0/4406
1 c.999C>G r.(=) p.(=) g.35721750G>C Copied from the Exome Variant Server TLN1_000375 1/13006 0/8600 1/4406
1 c.1083G>A r.(=) p.(=) g.35721666C>T Copied from the Exome Variant Server TLN1_000374 1/13006 0/8600 1/4406
1 c.1104+14C>T r.(=) p.(=) g.35721631G>A Copied from the Exome Variant Server TLN1_000373 1/13006 0/8600 1/4406
1 c.1104+15T>C r.(=) p.(=) g.35721630A>G Copied from the Exome Variant Server TLN1_000372 1/13006 1/8600 0/4406
1 c.1104+16A>G r.(=) p.(=) g.35721629T>C Copied from the Exome Variant Server TLN1_000371 1/13006 1/8600 0/4406
1 c.1104+23G>A r.(=) p.(=) g.35721622C>T Copied from the Exome Variant Server TLN1_000370 5/13006 0/8600 5/4406
1 c.1105-49C>G r.(=) p.(=) g.35720959G>C Copied from the Exome Variant Server TLN1_000369 50/13006 0/8600 50/4406
1 c.1105-43T>C r.(=) p.(=) g.35720953A>G Copied from the Exome Variant Server TLN1_000368 13/13006 1/8600 12/4406
1 c.1105-18C>T r.(=) p.(=) g.35720928G>A Copied from the Exome Variant Server TLN1_000367 1/13006 1/8600 0/4406
1 c.1105-15del r.(=) p.(=) g.35720925del Copied from the Exome Variant Server TLN1_000366 15/12518 0/8254 15/4264
1 c.1105-5C>T r.spl? p.? g.35720915G>A Copied from the Exome Variant Server TLN1_000365 24/13006 1/8600 23/4406
1 c.1130A>G r.(?) p.(Tyr377Cys) g.35720885T>C Copied from the Exome Variant Server TLN1_000364 2/13006 1/8600 1/4406
1 c.1188C>T r.(=) p.(=) g.35720827G>A Copied from the Exome Variant Server TLN1_000363 8/13006 6/8600 2/4406
1 c.1206+7A>G r.(=) p.(=) g.35720802T>C Copied from the Exome Variant Server TLN1_000362 1/13006 1/8600 0/4406
1 c.1206+12del r.(=) p.(=) g.35720797del Copied from the Exome Variant Server TLN1_000361 31/12518 15/8254 16/4264
1 c.1206+14G>A r.(=) p.(=) g.35720795C>T Copied from the Exome Variant Server TLN1_000360 40/13006 34/8600 6/4406
1 c.1207-42del r.(=) p.(=) g.35720548del Copied from the Exome Variant Server TLN1_000359 1/12516 1/8252 0/4264
1 c.1207-24C>G r.(=) p.(=) g.35720530G>C Copied from the Exome Variant Server TLN1_000358 1/13006 1/8600 0/4406
1 c.1207-20T>A r.(=) p.(=) g.35720526A>T Copied from the Exome Variant Server TLN1_000357 2/13006 2/8600 0/4406
1 c.1207-4A>G r.spl? p.? g.35720510T>C Copied from the Exome Variant Server TLN1_000356 1/13004 0/8598 1/4406
1 c.1228G>C r.(?) p.(Gly410Arg) g.35720485C>G Copied from the Exome Variant Server TLN1_000355 1/13006 1/8600 0/4406
1 c.1263G>A r.(=) p.(=) g.35720450C>T Copied from the Exome Variant Server TLN1_000354 1/13006 1/8600 0/4406
1 c.1283+7A>G r.(=) p.(=) g.35720423T>C Copied from the Exome Variant Server TLN1_000353 2/13006 2/8600 0/4406
1 c.1283+57C>A r.(=) p.(=) g.35720373G>T Copied from the Exome Variant Server TLN1_000352 9/4566 0/3182 9/1384
1 c.1284-51C>T r.(=) p.(=) g.35720267G>A Copied from the Exome Variant Server TLN1_000351 3/13006 2/8600 1/4406
1 c.1284-50G>A r.(=) p.(=) g.35720266C>T Copied from the Exome Variant Server TLN1_000350 1/13006 0/8600 1/4406
1 c.1361G>A r.(?) p.(Arg454His) g.35720139C>T Copied from the Exome Variant Server TLN1_000349 1/13006 1/8600 0/4406
1 c.1374T>C r.(=) p.(=) g.35720126A>G Copied from the Exome Variant Server TLN1_000348 10/13006 0/8600 10/4406
1 c.1409C>T r.(?) p.(Pro470Leu) g.35720091G>A Copied from the Exome Variant Server TLN1_000346 1/13006 1/8600 0/4406
1 c.1415A>G r.(?) p.(Gln472Arg) g.35720085T>C Copied from the Exome Variant Server TLN1_000344 6/13006 0/8600 6/4406
1 c.1431C>T r.(=) p.(=) g.35720069G>A Copied from the Exome Variant Server TLN1_000347 1/13006 0/8600 1/4406
1 c.1464+13C>G r.(=) p.(=) g.35720023G>C Copied from the Exome Variant Server TLN1_000345 3/13006 3/8600 0/4406
1 c.1464+16C>T r.(=) p.(=) g.35720020G>A Copied from the Exome Variant Server TLN1_000343 1/13006 0/8600 1/4406
1 c.1464+22C>T r.(=) p.(=) g.35720014G>A Copied from the Exome Variant Server TLN1_000342 1/13006 0/8600 1/4406
1 c.1464+25T>C r.(=) p.(=) g.35720011A>G Copied from the Exome Variant Server TLN1_000341 8/13006 7/8600 1/4406
1 c.1464+48C>T r.(=) p.(=) g.35719988G>A Copied from the Exome Variant Server TLN1_000340 51/13006 0/8600 51/4406
1 c.1465-40A>G r.(=) p.(=) g.35719890T>C Copied from the Exome Variant Server TLN1_000339 1/12990 0/8588 1/4402
1 c.1465-15C>G r.(=) p.(=) g.35719865G>C Copied from the Exome Variant Server TLN1_000338 1/13000 1/8594 0/4406
1 c.1578+17G>A r.(=) p.(=) g.35719720C>T Copied from the Exome Variant Server TLN1_000337 21/13006 20/8600 1/4406
1 c.1578+23G>T r.(=) p.(=) g.35719714C>A Copied from the Exome Variant Server TLN1_000336 17/13006 17/8600 0/4406
1 c.1578+26G>A r.(=) p.(=) g.35719711C>T Copied from the Exome Variant Server TLN1_000335 3/13006 0/8600 3/4406
1 c.1578+38G>A r.(=) p.(=) g.35719699C>T Copied from the Exome Variant Server TLN1_000334 2/13006 0/8600 2/4406
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