Full data view for gene SLX4

Information The variants shown are described using the NM_032444.2 transcript reference sequence.

391 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.-32A>C r.(=) p.(=) g.3658997T>G Copied from the Exome Variant Server SLX4_000391 1/12982 1/8592 0/4390 - - - - - - -
?/? c.-21G>C r.(=) p.(=) g.3658986C>G Copied from the Exome Variant Server SLX4_000390 5/12988 5/8596 0/4392 - - - - - - -
?/? c.-5C>T r.(=) p.(=) g.3658970G>A Copied from the Exome Variant Server SLX4_000389 1/12992 1/8598 0/4394 - - - - - - -
?/? c.8T>G r.(?) p.(Leu3Arg) g.3658958A>C Copied from the Exome Variant Server SLX4_000388 1/12992 1/8598 0/4394 - - - - - - -
?/? c.56A>G r.(?) p.(His19Arg) g.3658910T>C Copied from the Exome Variant Server SLX4_000387 1/12994 0/8600 1/4394 - - - - - - -
?/? c.58C>T r.(=) p.(=) g.3658908G>A Copied from the Exome Variant Server SLX4_000386 1/12994 1/8600 0/4394 - - - - - - -
?/? c.83C>G r.(?) p.(Pro28Arg) g.3658883G>C Copied from the Exome Variant Server SLX4_000385 1/12994 0/8600 1/4394 - - - - - - -
?/? c.85C>T r.(?) p.(Arg29Cys) g.3658881G>A Copied from the Exome Variant Server SLX4_000384 2/12994 2/8600 0/4394 - - - - - - -
?/? c.86G>A r.(?) p.(Arg29His) g.3658880C>T Copied from the Exome Variant Server SLX4_000383 3/12994 3/8600 0/4394 - - - - - - -
?/? c.90C>T r.(=) p.(=) g.3658876G>A Copied from the Exome Variant Server SLX4_000382 71/12994 65/8600 6/4394 - - - - - - -
?/? c.107A>T r.(?) p.(Glu36Val) g.3658859T>A Copied from the Exome Variant Server SLX4_000381 2/12994 0/8600 2/4394 - - - - - - -
?/? c.112C>T r.(?) p.(Leu38Phe) g.3658854G>A Copied from the Exome Variant Server SLX4_000380 1/12994 1/8600 0/4394 - - - - - - -
?/? c.145G>A r.(?) p.(Glu49Lys) g.3658821C>T Copied from the Exome Variant Server SLX4_000379 1/12994 1/8600 0/4394 - - - - - - -
?/? c.188A>G r.(?) p.(Lys63Arg) g.3658778T>C Copied from the Exome Variant Server SLX4_000378 1/12994 0/8600 1/4394 - - - - - - -
?/? c.193C>T r.(?) p.(His65Tyr) g.3658773G>A Copied from the Exome Variant Server SLX4_000377 1/12994 1/8600 0/4394 - - - - - - -
?/? c.217G>C r.(?) p.(Glu73Gln) g.3658749C>G Copied from the Exome Variant Server SLX4_000376 2/12994 1/8600 1/4394 - - - - - - -
?/? c.230A>G r.(?) p.(Gln77Arg) g.3658736T>C Copied from the Exome Variant Server SLX4_000375 1/12994 0/8600 1/4394 - - - - - - -
?/? c.231A>G r.(=) p.(=) g.3658735T>C Copied from the Exome Variant Server SLX4_000374 3/12994 2/8600 1/4394 - - - - - - -
?/? c.237T>C r.(=) p.(=) g.3658729A>G Copied from the Exome Variant Server SLX4_000373 1/12994 1/8600 0/4394 - - - - - - -
?/? c.336G>A r.(=) p.(=) g.3658630C>T Copied from the Exome Variant Server SLX4_000372 50/12994 0/8600 50/4394 - - - - - - -
?/? c.339T>C r.(=) p.(=) g.3658627A>G Copied from the Exome Variant Server SLX4_000371 14/12994 14/8600 0/4394 - - - - - - -
?/? c.366G>A r.(=) p.(=) g.3658600C>T Copied from the Exome Variant Server SLX4_000370 1/12994 1/8600 0/4394 - - - - - - -
?/? c.398C>T r.(?) p.(Pro133Leu) g.3658568G>A Copied from the Exome Variant Server SLX4_000369 3/12994 2/8600 1/4394 - - - - - - -
?/? c.421G>T r.(?) p.(Gly141Trp) g.3658545C>A Copied from the Exome Variant Server SLX4_000368 10/12994 9/8600 1/4394 - - - - - - -
?/? c.422G>T r.(?) p.(Gly141Val) g.3658544C>A Copied from the Exome Variant Server SLX4_000367 10/12994 0/8600 10/4394 - - - - - - -
?/? c.425G>A r.(?) p.(Gly142Asp) g.3658541C>T Copied from the Exome Variant Server SLX4_000366 1/12994 1/8600 0/4394 - - - - - - -
?/? c.440C>T r.(?) p.(Ala147Val) g.3658526G>A Copied from the Exome Variant Server SLX4_000365 1/12994 0/8600 1/4394 - - - - - - -
?/? c.445G>A r.(?) p.(Asp149Asn) g.3658521C>T Copied from the Exome Variant Server SLX4_000364 1/12994 1/8600 0/4394 - - - - - - -
?/? c.460C>T r.(?) p.(Arg154Trp) g.3658506G>A Copied from the Exome Variant Server SLX4_000363 1/12994 0/8600 1/4394 - - - - - - -
?/? c.465A>G r.(=) p.(=) g.3658501T>C Copied from the Exome Variant Server SLX4_000362 2/12994 1/8600 1/4394 - - - - - - -
?/? c.467C>A r.(?) p.(Thr156Lys) g.3658499G>T Copied from the Exome Variant Server SLX4_000361 5/12994 0/8600 5/4394 - - - - - - -
?/? c.485C>T r.(?) p.(Thr162Met) g.3658481G>A Copied from the Exome Variant Server SLX4_000360 2/12994 2/8600 0/4394 - - - - - - -
?/? c.499G>A r.(?) p.(Glu167Lys) g.3658467C>T Copied from the Exome Variant Server SLX4_000359 1/12994 1/8600 0/4394 - - - - - - -
?/? c.536-48A>G r.(=) p.(=) g.3656747T>C Copied from the Exome Variant Server SLX4_000358 1/12994 0/8600 1/4394 - - - - - - -
?/? c.536-27G>A r.(=) p.(=) g.3656726C>T Copied from the Exome Variant Server SLX4_000357 2/12994 2/8600 0/4394 - - - - - - -
?/? c.536-21G>A r.(=) p.(=) g.3656720C>T Copied from the Exome Variant Server SLX4_000356 2/12994 0/8600 2/4394 - - - - - - -
?/? c.555C>T r.(=) p.(=) g.3656680G>A Copied from the Exome Variant Server SLX4_000355 647/12994 582/8600 65/4394 - - - - - - -
?/? c.579G>A r.(=) p.(=) g.3656656C>T Copied from the Exome Variant Server SLX4_000354 1/12994 0/8600 1/4394 - - - - - - -
?/? c.590T>C r.(?) p.(Val197Ala) g.3656645A>G Copied from the Exome Variant Server SLX4_000353 27/12994 26/8600 1/4394 - - - - - - -
?/? c.610C>T r.(?) p.(Arg204Cys) g.3656625G>A Copied from the Exome Variant Server SLX4_000352 926/12994 583/8600 343/4394 - - - - - - -
?/? c.631C>G r.(?) p.(Gln211Glu) g.3656604G>C Copied from the Exome Variant Server SLX4_000351 1/12994 1/8600 0/4394 - - - - - - -
?/? c.649A>G r.(?) p.(Lys217Glu) g.3656586T>C Copied from the Exome Variant Server SLX4_000350 2/12994 0/8600 2/4394 - - - - - - -
?/? c.663C>T r.(=) p.(=) g.3656572G>A Copied from the Exome Variant Server SLX4_000349 2/12994 1/8600 1/4394 - - - - - - -
?/? c.678C>T r.(=) p.(=) g.3656557G>A Copied from the Exome Variant Server SLX4_000348 1236/12994 127/8600 1109/4394 - - - - - - -
?/? c.679G>A r.(?) p.(Ala227Thr) g.3656556C>T Copied from the Exome Variant Server SLX4_000347 3/12994 0/8600 3/4394 - - - - - - -
?/? c.700G>A r.(?) p.(Glu234Lys) g.3656535C>T Copied from the Exome Variant Server SLX4_000346 1/12994 1/8600 0/4394 - - - - - - -
?/? c.710G>A r.(?) p.(Arg237Gln) g.3656525C>T Copied from the Exome Variant Server SLX4_000345 120/12994 41/8600 79/4394 - - - - - - -
?/? c.712G>A r.(?) p.(Glu238Lys) g.3656523C>T Copied from the Exome Variant Server SLX4_000344 1/12994 1/8600 0/4394 - - - - - - -
?/? c.718A>G r.(?) p.(Asn240Asp) g.3656517T>C Copied from the Exome Variant Server SLX4_000343 70/12994 0/8600 70/4394 - - - - - - -
?/? c.742G>A r.(?) p.(Glu248Lys) g.3656493C>T Copied from the Exome Variant Server SLX4_000342 6/12994 6/8600 0/4394 - - - - - - -
?/? c.753G>A r.(=) p.(=) g.3656482C>T Copied from the Exome Variant Server SLX4_000341 2845/12994 1746/8600 1099/4394 - - - - - - -
?/? c.760+19T>A r.(=) p.(=) g.3656456A>T Copied from the Exome Variant Server SLX4_000340 1/12994 1/8600 0/4394 - - - - - - -
?/? c.760+23T>C r.(=) p.(=) g.3656452A>G Copied from the Exome Variant Server SLX4_000339 3/12994 3/8600 0/4394 - - - - - - -
?/? c.761-32T>G r.(=) p.(=) g.3652340A>C Copied from the Exome Variant Server SLX4_000338 148/12994 129/8600 19/4394 - - - - - - -
?/? c.761-16_761-15insT r.(=) p.(=) g.3652323_3652324insA Copied from the Exome Variant Server SLX4_000337 1/12518 0/8254 1/4264 - - - - - - -
?/? c.793G>A r.(?) p.(Asp265Asn) g.3652276C>T Copied from the Exome Variant Server SLX4_000336 1/12994 1/8600 0/4394 - - - - - - -
?/? c.801G>A r.(=) p.(=) g.3652268C>T Copied from the Exome Variant Server SLX4_000335 1/12994 1/8600 0/4394 - - - - - - -
?/? c.832C>T r.(?) p.(Arg278Trp) g.3652237G>A Copied from the Exome Variant Server SLX4_000334 3/12994 1/8600 2/4394 - - - - - - -
?/? c.833G>A r.(?) p.(Arg278Gln) g.3652236C>T Copied from the Exome Variant Server SLX4_000333 1/12994 1/8600 0/4394 - - - - - - -
?/? c.845C>T r.(?) p.(Ser282Leu) g.3652224G>A Copied from the Exome Variant Server SLX4_000332 2/12994 1/8600 1/4394 - - - - - - -
?/? c.860del r.(?) p.(Ser287Thrfs*20) g.3652209del Copied from the Exome Variant Server SLX4_000331 1/12518 1/8254 0/4264 - - - - - - -
?/? c.900A>G r.(=) p.(=) g.3652169T>C Copied from the Exome Variant Server SLX4_000330 2/12994 0/8600 2/4394 - - - - - - -
?/? c.921C>T r.(=) p.(=) g.3652148G>A Copied from the Exome Variant Server SLX4_000329 1/12994 0/8600 1/4394 - - - - - - -
?/? c.950+11C>T r.(=) p.(=) g.3652108G>A Copied from the Exome Variant Server SLX4_000328 1/12994 0/8600 1/4394 - - - - - - -
?/? c.950+17C>T r.(=) p.(=) g.3652102G>A Copied from the Exome Variant Server SLX4_000327 1/12994 1/8600 0/4394 - - - - - - -
?/? c.950+31G>A r.(=) p.(=) g.3652088C>T Copied from the Exome Variant Server SLX4_000326 1/12994 0/8600 1/4394 - - - - - - -
?/? c.951-28T>C r.(=) p.(=) g.3651220A>G Copied from the Exome Variant Server SLX4_000325 2/12994 0/8600 2/4394 - - - - - - -
?/? c.993T>A r.(=) p.(=) g.3651150A>T Copied from the Exome Variant Server SLX4_000324 1/12994 0/8600 1/4394 - - - - - - -
?/? c.996G>T r.(?) p.(Gln332His) g.3651147C>A Copied from the Exome Variant Server SLX4_000323 1/12994 1/8600 0/4394 - - - - - - -
?/? c.999C>T r.(=) p.(=) g.3651144G>A Copied from the Exome Variant Server SLX4_000322 122/12994 0/8600 122/4394 - - - - - - -
?/? c.1052G>A r.(?) p.(Ser351Asn) g.3651091C>T Copied from the Exome Variant Server SLX4_000321 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1065G>A r.(=) p.(=) g.3651078C>T Copied from the Exome Variant Server SLX4_000320 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1077G>T r.(?) p.(Lys359Asn) g.3651066C>A Copied from the Exome Variant Server SLX4_000319 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1115G>A r.(?) p.(Arg372Gln) g.3651028C>T Copied from the Exome Variant Server SLX4_000318 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1125A>G r.(=) p.(=) g.3651018T>C Copied from the Exome Variant Server SLX4_000317 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1152A>G r.(=) p.(=) g.3650991T>C Copied from the Exome Variant Server SLX4_000316 847/12994 576/8600 271/4394 - - - - - - -
?/? c.1153C>A r.(?) p.(Pro385Thr) g.3650990G>T Copied from the Exome Variant Server SLX4_000315 100/12994 9/8600 91/4394 - - - - - - -
?/? c.1156A>G r.(?) p.(Met386Val) g.3650987T>C Copied from the Exome Variant Server SLX4_000314 846/12994 575/8600 271/4394 - - - - - - -
?/? c.1159T>G r.(?) p.(Phe387Val) g.3650984A>C Copied from the Exome Variant Server SLX4_000313 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1163+10C>T r.(=) p.(=) g.3650970G>A Copied from the Exome Variant Server SLX4_000312 892/12994 573/8600 319/4394 - - - - - - -
?/? c.1163+43T>C r.(=) p.(=) g.3650937A>G Copied from the Exome Variant Server SLX4_000311 1/12978 0/8590 1/4388 - - - - - - -
?/? c.1192C>T r.(?) p.(Arg398Trp) g.3647972G>A Copied from the Exome Variant Server SLX4_000310 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1213_1215del r.(?) p.(Lys405del) g.3647949_3647951del Copied from the Exome Variant Server SLX4_000309 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1223G>A r.(?) p.(Arg408Gln) g.3647941C>T Copied from the Exome Variant Server SLX4_000308 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1232G>A r.(?) p.(Arg411Gln) g.3647932C>T Copied from the Exome Variant Server SLX4_000307 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1239G>A r.(=) p.(=) g.3647925C>T Copied from the Exome Variant Server SLX4_000306 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1243G>A r.(?) p.(Glu415Lys) g.3647921C>T Copied from the Exome Variant Server SLX4_000305 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1268T>C r.(?) p.(Val423Ala) g.3647896A>G Copied from the Exome Variant Server SLX4_000304 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1286G>A r.(?) p.(Arg429Gln) g.3647878C>T Copied from the Exome Variant Server SLX4_000303 2/12994 0/8600 2/4394 - - - - - - -
?/? c.1308G>A r.(=) p.(=) g.3647856C>T Copied from the Exome Variant Server SLX4_000302 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1323C>T r.(=) p.(=) g.3647841G>A Copied from the Exome Variant Server SLX4_000301 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1366+11T>C r.(=) p.(=) g.3647787A>G Copied from the Exome Variant Server SLX4_000300 1131/12994 594/8600 537/4394 - - - - - - -
?/? c.1366+51G>A r.(=) p.(=) g.3647747C>T Copied from the Exome Variant Server SLX4_000299 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1367-31C>T r.(=) p.(=) g.3647727G>A Copied from the Exome Variant Server SLX4_000298 46/12994 1/8600 45/4394 - - - - - - -
?/? c.1371T>G r.(?) p.(Asn457Lys) g.3647692A>C Copied from the Exome Variant Server SLX4_000297 845/12986 581/8598 264/4388 - - - - - - -
?/? c.1372A>G r.(?) p.(Lys458Glu) g.3647691T>C Copied from the Exome Variant Server SLX4_000296 3/12984 3/8598 0/4386 - - - - - - -
?/? c.1379G>A r.(?) p.(Arg460His) g.3647684C>T Copied from the Exome Variant Server SLX4_000295 2/12986 2/8598 0/4388 - - - - - - -
?/? c.1389A>G r.(=) p.(=) g.3647674T>C Copied from the Exome Variant Server SLX4_000294 2/12990 0/8598 2/4392 - - - - - - -
?/? c.1394C>T r.(?) p.(Pro465Leu) g.3647669G>A Copied from the Exome Variant Server SLX4_000293 3/12990 0/8598 3/4392 - - - - - - -
?/? c.1437A>G r.(=) p.(=) g.3647626T>C Copied from the Exome Variant Server SLX4_000292 1/12994 1/8600 0/4394 - - - - - - -
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