Full data view for gene HUWE1

Information The variants shown are described using the NM_031407.5 transcript reference sequence.

437 entries on 5 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.-24-27A>G r.(=) p.(=) g.53681102T>C Copied from the Exome Variant Server HUWE1_000430 6/10539 6/6716 0/3823 - - - - - - -
?/? c.-24-18G>A r.(=) p.(=) g.53681093C>T Copied from the Exome Variant Server HUWE1_000429 1/10551 0/6723 1/3828 - - - - - - -
?/? c.46-28T>G r.(=) p.(=) g.53675281A>C Copied from the Exome Variant Server HUWE1_000428 1/10561 1/6728 0/3833 - - - - - - -
?/? c.46-24T>C r.(=) p.(=) g.53675277A>G Copied from the Exome Variant Server HUWE1_000427 1/10561 1/6728 0/3833 - - - - - - -
?/? c.72C>T r.(=) p.(=) g.53675227G>A Copied from the Exome Variant Server HUWE1_000426 1/10561 0/6728 1/3833 - - - - - - -
?/? c.99A>G r.(=) p.(=) g.53675200T>C Copied from the Exome Variant Server HUWE1_000433 161/10563 0/6728 161/3835 - - - - - - -
?/? c.145-48C>A r.(=) p.(=) g.53674565G>T Copied from the Exome Variant Server HUWE1_000432 1/10563 0/6728 1/3835 - - - - - - -
?/? c.145-45C>T r.(=) p.(=) g.53674562G>A Copied from the Exome Variant Server HUWE1_000422 1/10563 1/6728 0/3835 - - - - - - -
?/? c.147C>T r.(=) p.(=) g.53674515G>A Copied from the Exome Variant Server HUWE1_000421 2/10563 2/6728 0/3835 - - - - - - -
?/? c.238G>A r.(?) p.(Val80Ile) g.53674424C>T Copied from the Exome Variant Server HUWE1_000419 1/10563 0/6728 1/3835 - - - - - - -
?/? c.352-17C>G r.(=) p.(=) g.53672432G>C Copied from the Exome Variant Server HUWE1_000417 4/10563 0/6728 4/3835 - - - - - - -
?/? c.411C>G r.(=) p.(=) g.53672356G>C Copied from the Exome Variant Server HUWE1_000431 1/10563 0/6728 1/3835 - - - - - - -
?/? c.478C>T r.(=) p.(=) g.53672289G>A Copied from the Exome Variant Server HUWE1_000414 1/10563 1/6728 0/3835 - - - - - - -
?/? c.504+5G>A r.spl? p.? g.53672258C>T Copied from the Exome Variant Server HUWE1_000425 1/10563 1/6728 0/3835 - - - - - - -
?/? c.505-51C>T r.(=) p.(=) g.53661301G>A Copied from the Exome Variant Server HUWE1_000424 1/10563 1/6728 0/3835 - - - - - - -
?/? c.567+31_567+32del r.(=) p.(=) g.53661156_53661157del Copied from the Exome Variant Server HUWE1_000423 2/10205 0/6484 2/3721 - - - - - - -
?/? c.567+44G>A r.(=) p.(=) g.53661144C>T Copied from the Exome Variant Server HUWE1_000420 1/10563 0/6728 1/3835 - - - - - - -
?/? c.567+49C>G r.(=) p.(=) g.53661139G>C Copied from the Exome Variant Server HUWE1_000418 2/10563 2/6728 0/3835 - - - - - - -
?/? c.568-62G>A r.(=) p.(=) g.53659578C>T Copied from the Exome Variant Server HUWE1_000416 51/3600 0/2391 51/1209 - - - - - - -
?/? c.568-27T>C r.(=) p.(=) g.53659543A>G Copied from the Exome Variant Server HUWE1_000415 1/10563 0/6728 1/3835 - - - - - - -
?/? c.568-19T>C r.(=) p.(=) g.53659535A>G Copied from the Exome Variant Server HUWE1_000413 1/10563 1/6728 0/3835 - - - - - - -
?/? c.568-9_568-8insT r.(=) p.(=) g.53659524_53659525insA Copied from the Exome Variant Server HUWE1_000412 47/10205 0/6484 47/3721 - - - - - - -
?/? c.634A>G r.(?) p.(Ile212Val) g.53659450T>C Copied from the Exome Variant Server HUWE1_000411 1/10563 0/6728 1/3835 - - - - - - -
?/? c.645+55T>G r.(=) p.(=) g.53659384A>C Copied from the Exome Variant Server HUWE1_000410 28/3600 0/2391 28/1209 - - - - - - -
?/? c.646-62T>C r.(=) p.(=) g.53658628A>G Copied from the Exome Variant Server HUWE1_000409 1/3600 1/2391 0/1209 - - - - - - -
?/? c.646-22C>G r.(=) p.(=) g.53658588G>C Copied from the Exome Variant Server HUWE1_000408 1/10560 1/6727 0/3833 - - - - - - -
?/? c.646-19T>C r.(=) p.(=) g.53658585A>G Copied from the Exome Variant Server HUWE1_000407 1/10560 0/6727 1/3833 - - - - - - -
?/? c.646-18T>C r.(=) p.(=) g.53658584A>G Copied from the Exome Variant Server HUWE1_000406 33/10560 2/6727 31/3833 - - - - - - -
?/? c.654T>C r.(=) p.(=) g.53658558A>G Copied from the Exome Variant Server HUWE1_000405 4/10559 4/6727 0/3832 - - - - - - -
?/? c.693+27C>T r.(=) p.(=) g.53658492G>A Copied from the Exome Variant Server HUWE1_000404 2/10561 2/6728 0/3833 - - - - - - -
?/? c.694-21A>G r.(=) p.(=) g.53658455T>C Copied from the Exome Variant Server HUWE1_000403 3/10559 3/6726 0/3833 - - - - - - -
?/? c.694-8del r.(=) p.(=) g.53658442del Copied from the Exome Variant Server HUWE1_000402 35/10199 25/6478 10/3721 - - - - - - -
?/? c.694-8dup r.(=) p.(=) g.53658442dup Copied from the Exome Variant Server HUWE1_000401 50/10199 4/6478 46/3721 - - - - - - -
?/? c.762+27A>G r.(=) p.(=) g.53658339T>C Copied from the Exome Variant Server HUWE1_000399 1/10563 1/6728 0/3835 - - - - - - -
?/? c.762+34G>T r.(=) p.(=) g.53658332C>A Copied from the Exome Variant Server HUWE1_000397 5/10561 0/6728 5/3833 - - - - - - -
?/? c.763-38A>G r.(=) p.(=) g.53658024T>C Copied from the Exome Variant Server HUWE1_000395 2/10561 0/6726 2/3835 - - - - - - -
?/? c.763-11T>C r.(=) p.(=) g.53657997A>G Copied from the Exome Variant Server HUWE1_000393 1/10563 0/6728 1/3835 - - - - - - -
?/? c.850A>G r.(?) p.(Ile284Val) g.53657899T>C Copied from the Exome Variant Server HUWE1_000391 1/10563 1/6728 0/3835 - - - - - - -
?/? c.862+23A>G r.(=) p.(=) g.53657864T>C Copied from the Exome Variant Server HUWE1_000400 2/10561 2/6726 0/3835 - - - - - - -
?/? c.862+31G>A r.(=) p.(=) g.53657856C>T Copied from the Exome Variant Server HUWE1_000398 1/10560 1/6725 0/3835 - - - - - - -
?/? c.863-44G>A r.(=) p.(=) g.53656611C>T Copied from the Exome Variant Server HUWE1_000396 1/10561 0/6726 1/3835 - - - - - - -
?/? c.864G>A r.(=) p.(=) g.53656566C>T Copied from the Exome Variant Server HUWE1_000394 1/10563 0/6728 1/3835 - - - - - - -
?/? c.963+18T>C r.(=) p.(=) g.53656449A>G Copied from the Exome Variant Server HUWE1_000392 98/10563 2/6728 96/3835 - - - - - - -
?/? c.1081G>C r.(?) p.(Val361Leu) g.53655736C>G Copied from the Exome Variant Server HUWE1_000390 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1114+13G>A r.(=) p.(=) g.53655690C>T Copied from the Exome Variant Server HUWE1_000389 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1114+39A>G r.(=) p.(=) g.53655664T>C Copied from the Exome Variant Server HUWE1_000388 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1114+42T>C r.(=) p.(=) g.53655661A>G Copied from the Exome Variant Server HUWE1_000387 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1115-49A>G r.(=) p.(=) g.53655620T>C Copied from the Exome Variant Server HUWE1_000386 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1156C>G r.(?) p.(Leu386Val) g.53655530G>C Copied from the Exome Variant Server HUWE1_000385 1/10206 0/6473 1/3733 - - - - - - -
?/? c.1242+4C>T r.spl? p.? g.53655440G>A Copied from the Exome Variant Server HUWE1_000384 4/8242 1/5098 3/3144 - - - - - - -
?/? c.1242+27del r.(=) p.(=) g.53655417del Copied from the Exome Variant Server HUWE1_000383 1392/6452 856/3938 536/2514 - - - - - - -
?/? c.1242+27dup r.(=) p.(=) g.53655417dup Copied from the Exome Variant Server HUWE1_000382 1059/6452 708/3938 351/2514 - - - - - - -
?/? c.1242+27_1242+28del r.(=) p.(=) g.53655416_53655417del Copied from the Exome Variant Server HUWE1_000381 567/6452 311/3938 256/2514 - - - - - - -
?/? c.1243-45G>A r.(=) p.(=) g.53654875C>T Copied from the Exome Variant Server HUWE1_000380 4/10563 0/6728 4/3835 - - - - - - -
?/? c.1337_1353del r.(?) p.(Ala446Glyfs*8) g.53654720_53654736del Copied from the Exome Variant Server HUWE1_000379 7/10205 5/6484 2/3721 - - - - - - -
?/? c.1371T>G r.(?) p.(Ile457Met) g.53654702A>C Copied from the Exome Variant Server HUWE1_000378 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1383+8_1383+10del r.(=) p.(=) g.53654680_53654682del Copied from the Exome Variant Server HUWE1_000377 9/10205 4/6484 5/3721 - - - - - - -
?/? c.1384-53_1384-52insAA r.(=) p.(=) g.53654518_53654519insTT Copied from the Exome Variant Server HUWE1_000376 187/8015 56/5260 131/2755 - - - - - - -
?/? c.1384-52del r.(=) p.(=) g.53654518del Copied from the Exome Variant Server HUWE1_000375 1063/8211 689/5404 374/2807 - - - - - - -
?/? c.1384-50T>A r.(=) p.(=) g.53654516A>T Copied from the Exome Variant Server HUWE1_000374 8/8729 2/5756 6/2973 - - - - - - -
?/? c.1384-38_1384-37del r.(=) p.(=) g.53654503_53654504del Copied from the Exome Variant Server HUWE1_000372 1548/8213 1052/5419 496/2794 - - - - - - -
?/? c.1384-38_1384-37dup r.(=) p.(=) g.53654503_53654504dup Copied from the Exome Variant Server HUWE1_000373 131/8213 79/5419 52/2794 - - - - - - -
?/? c.1384-38_1384-35del r.(=) p.(=) g.53654501_53654504del Copied from the Exome Variant Server HUWE1_000371 205/8213 127/5419 78/2794 - - - - - - -
?/? c.1416G>A r.(=) p.(=) g.53654434C>T Copied from the Exome Variant Server HUWE1_000370 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1448A>G r.(?) p.(Asn483Ser) g.53654402T>C Copied from the Exome Variant Server HUWE1_000369 200/10563 185/6728 15/3835 - - - - - - -
?/? c.1470A>G r.(=) p.(=) g.53654380T>C Copied from the Exome Variant Server HUWE1_000368 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1489+46_1489+47insT r.(=) p.(=) g.53654314_53654315insA Copied from the Exome Variant Server HUWE1_000367 4/10205 0/6484 4/3721 - - - - - - -
?/? c.1489+49C>T r.(=) p.(=) g.53654312G>A Copied from the Exome Variant Server HUWE1_000366 4/10563 0/6728 4/3835 - - - - - - -
?/? c.1490-649T>C r.(=) p.(=) g.53652868A>G Copied from the Exome Variant Server HUWE1_000365 3/4525 3/3107 0/1418 - - - - - - -
?/? c.1490-640_1490-639insCCCGGC r.(=) p.(=) g.53652858_53652859insGCCGGG Copied from the Exome Variant Server HUWE1_000364 5166/5683 3336/3705 1830/1978 - - - - - - -
?/? c.1490-639_1490-638insCCGGCC r.(=) p.(=) g.53652857_53652858insGGCCGG Copied from the Exome Variant Server HUWE1_000363 5203/5687 3366/3708 1837/1979 - - - - - - -
?/? c.1490-638_1490-637insCGGCCC r.(=) p.(=) g.53652856_53652857insGGGCCG Copied from the Exome Variant Server HUWE1_000362 5256/5681 3404/3708 1852/1973 - - - - - - -
?/? c.1490-637_1490-636insGGCCCC r.(=) p.(=) g.53652855_53652856insGGGGCC Copied from the Exome Variant Server HUWE1_000361 5277/5680 3421/3706 1856/1974 - - - - - - -
?/? c.1490-634_1490-633insCCCGGC r.(=) p.(=) g.53652852_53652853insGCCGGG Copied from the Exome Variant Server HUWE1_000360 5375/5684 3477/3708 1898/1976 - - - - - - -
?/? c.1490-633_1490-628del r.(=) p.(=) g.53652847_53652852del Copied from the Exome Variant Server HUWE1_000359 4882/5359 3237/3532 1645/1827 - - - - - - -
?/? c.1490-633_1490-610del r.(=) p.(=) g.53652829_53652852del Copied from the Exome Variant Server HUWE1_000358 3445/4614 2272/3099 1173/1515 - - - - - - -
?/? c.1490-603C>A r.(=) p.(=) g.53652822G>T Copied from the Exome Variant Server HUWE1_000357 843/4390 461/2992 382/1398 - - - - - - -
?/? c.1490-38G>A r.(=) p.(=) g.53652257C>T Copied from the Exome Variant Server HUWE1_000356 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1591+11C>T r.(=) p.(=) g.53652107G>A Copied from the Exome Variant Server HUWE1_000355 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1592-49C>T r.(=) p.(=) g.53651685G>A Copied from the Exome Variant Server HUWE1_000354 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1592-38A>G r.(=) p.(=) g.53651674T>C Copied from the Exome Variant Server HUWE1_000353 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1665C>T r.(=) p.(=) g.53651563G>A Copied from the Exome Variant Server HUWE1_000352 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1672+30A>G r.(=) p.(=) g.53651526T>C Copied from the Exome Variant Server HUWE1_000351 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1672+51C>A r.(=) p.(=) g.53651505G>T Copied from the Exome Variant Server HUWE1_000350 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1673-12A>C r.(=) p.(=) g.53644419T>G Copied from the Exome Variant Server HUWE1_000348 3/10560 3/6726 0/3834 - - - - - - -
?/? c.1773C>A r.(=) p.(=) g.53644307G>T Copied from the Exome Variant Server HUWE1_000346 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1779+52A>C r.(=) p.(=) g.53644249T>G Copied from the Exome Variant Server HUWE1_000344 1/4506 1/3091 0/1415 - - - - - - -
?/? c.1869G>C r.(?) p.(Gln623His) g.53644019C>G Copied from the Exome Variant Server HUWE1_000342 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1953C>G r.(=) p.(=) g.53643935G>C Copied from the Exome Variant Server HUWE1_000349 14/10563 0/6728 14/3835 - - - - - - -
?/? c.1957+37A>T r.(=) p.(=) g.53643894T>A Copied from the Exome Variant Server HUWE1_000347 1/10528 1/6710 0/3818 - - - - - - -
?/? c.2044A>G r.(?) p.(Ile682Val) g.53642710T>C Copied from the Exome Variant Server HUWE1_000345 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2050-9G>T r.(=) p.(=) g.53641715C>A Copied from the Exome Variant Server HUWE1_000343 7/10563 0/6728 7/3835 - - - - - - -
?/? c.2109A>G r.(=) p.(=) g.53641647T>C Copied from the Exome Variant Server HUWE1_000341 3992/10563 3618/6728 374/3835 - - - - - - -
?/? c.2261+10T>G r.(=) p.(=) g.53641485A>C Copied from the Exome Variant Server HUWE1_000340 24/10563 0/6728 24/3835 - - - - - - -
?/? c.2262-68T>G r.(=) p.(=) g.53635938A>C Copied from the Exome Variant Server HUWE1_000339 10/3600 1/2391 9/1209 - - - - - - -
?/? c.2262-17C>A r.(=) p.(=) g.53635887G>T Copied from the Exome Variant Server HUWE1_000338 160/10563 0/6728 160/3835 - - - - - - -
?/? c.2320-46T>A r.(=) p.(=) g.53634706A>T Copied from the Exome Variant Server HUWE1_000337 1/10479 0/6670 1/3809 - - - - - - -
?/? c.2320-22T>A r.(=) p.(=) g.53634682A>T Copied from the Exome Variant Server HUWE1_000336 9/10551 0/6721 9/3830 - - - - - - -
?/? c.2387A>T r.(?) p.(Gln796Leu) g.53634593T>A Copied from the Exome Variant Server HUWE1_000335 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2497-36T>C r.(=) p.(=) g.53631831A>G Copied from the Exome Variant Server HUWE1_000334 1/10563 0/6728 1/3835 - - - - - - -
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