Full data view for gene RECQL4

Information The variants shown are described using the NM_004260.3 transcript reference sequence.

392 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.132A>G r.(=) p.(=) g.145742879T>C Copied from the Exome Variant Server RECQL4_000392 5888/10692 3861/7500 2027/3192 - - - - - - -
?/? c.161A>G r.(?) p.(Gln54Arg) g.145742850T>C Copied from the Exome Variant Server RECQL4_000391 52/10518 10/7406 42/3112 - - - - - - -
?/? c.195C>G r.(=) p.(=) g.145742816G>C Copied from the Exome Variant Server RECQL4_000390 10/10136 0/7140 10/2996 - - - - - - -
?/? c.212A>G r.(?) p.(Glu71Gly) g.145742799T>C Copied from the Exome Variant Server RECQL4_000389 33/9742 24/6890 9/2852 - - - - - - -
?/? c.214-16C>A r.(=) p.(=) g.145742590G>T Copied from the Exome Variant Server RECQL4_000388 1/11768 1/8056 0/3712 - - - - - - -
?/? c.214-3C>A r.spl? p.? g.145742577G>T Copied from the Exome Variant Server RECQL4_000387 5/11770 0/8080 5/3690 - - - - - - -
?/? c.230G>A r.(?) p.(Cys77Tyr) g.145742558C>T Copied from the Exome Variant Server RECQL4_000386 2/11854 0/8154 2/3700 - - - - - - -
?/? c.266G>A r.(?) p.(Ser89Asn) g.145742522C>T Copied from the Exome Variant Server RECQL4_000385 1/12162 0/8276 1/3886 - - - - - - -
?/? c.274T>C N/A N/A g.145742514A>G Copied from the Exome Variant Server RECQL4_000384 12145/12204 8276/8282 3869/3922 - - - - - - -
?/? c.286C>A r.(=) p.(=) g.145742502G>T Copied from the Exome Variant Server RECQL4_000383 5/12260 0/8310 5/3950 - - - - - - -
?/? c.300C>T r.(=) p.(=) g.145742488G>A Copied from the Exome Variant Server RECQL4_000382 152/12418 0/8372 152/4046 - - - - - - -
?/? c.304G>A r.(?) p.(Val102Met) g.145742484C>T Copied from the Exome Variant Server RECQL4_000381 1/12480 1/8392 0/4088 - - - - - - -
?/? c.308C>T r.(?) p.(Pro103Leu) g.145742480G>A Copied from the Exome Variant Server RECQL4_000380 6/12506 6/8400 0/4106 - - - - - - -
?/? c.309G>A r.(=) p.(=) g.145742479C>T Copied from the Exome Variant Server RECQL4_000379 56/12528 51/8396 5/4132 - - - - - - -
?/? c.318del r.(?) p.(Gln107Serfs*7) g.145742470del Copied from the Exome Variant Server RECQL4_000378 60/12080 48/8064 12/4016 - - - - - - -
?/? c.330G>A r.(=) p.(=) g.145742458C>T Copied from the Exome Variant Server RECQL4_000377 1/12700 0/8456 1/4244 - - - - - - -
?/? c.335A>G r.(?) p.(Asn112Ser) g.145742453T>C Copied from the Exome Variant Server RECQL4_000376 2/12714 0/8466 2/4248 - - - - - - -
?/? c.337C>A r.(?) p.(Leu113Met) g.145742451G>T Copied from the Exome Variant Server RECQL4_000375 2/12714 2/8466 0/4248 - - - - - - -
?/? c.345C>T r.(=) p.(=) g.145742443G>A Copied from the Exome Variant Server RECQL4_000374 1/12734 1/8474 0/4260 - - - - - - -
?/? c.351G>A r.(=) p.(=) g.145742437C>T Copied from the Exome Variant Server RECQL4_000373 1/12732 1/8474 0/4258 - - - - - - -
?/? c.354+33G>T r.(=) p.(=) g.145742401C>A Copied from the Exome Variant Server RECQL4_000372 2/12756 2/8464 0/4292 - - - - - - -
?/? c.355-49T>C r.(=) p.(=) g.145742197A>G Copied from the Exome Variant Server RECQL4_000371 1/12226 0/8320 1/3906 - - - - - - -
?/? c.355-37C>T r.(=) p.(=) g.145742185G>A Copied from the Exome Variant Server RECQL4_000370 141/12238 0/8316 141/3922 - - - - - - -
?/? c.355-27C>T r.(=) p.(=) g.145742175G>A Copied from the Exome Variant Server RECQL4_000369 2/12222 1/8308 1/3914 - - - - - - -
?/? c.355-24G>C r.(=) p.(=) g.145742172C>G Copied from the Exome Variant Server RECQL4_000368 106/12202 18/8298 88/3904 - - - - - - -
?/? c.355-18C>A r.(=) p.(=) g.145742166G>T Copied from the Exome Variant Server RECQL4_000367 2/12208 0/8298 2/3910 - - - - - - -
?/? c.355-8C>T r.(=) p.(=) g.145742156G>A Copied from the Exome Variant Server RECQL4_000366 5/12194 5/8288 0/3906 - - - - - - -
?/? c.355-7C>T r.(=) p.(=) g.145742155G>A Copied from the Exome Variant Server RECQL4_000365 1/12186 0/8286 1/3900 - - - - - - -
?/? c.355-5C>T r.spl? p.? g.145742153G>A Copied from the Exome Variant Server RECQL4_000364 1/12164 1/8282 0/3882 - - - - - - -
?/? c.371G>A r.(?) p.(Gly124Asp) g.145742132C>T Copied from the Exome Variant Server RECQL4_000363 1/12134 1/8254 0/3880 - - - - - - -
?/? c.385C>T r.(?) p.(Pro129Ser) g.145742118G>A Copied from the Exome Variant Server RECQL4_000362 3/12118 3/8250 0/3868 - - - - - - -
?/? c.386C>T r.(?) p.(Pro129Leu) g.145742117G>A Copied from the Exome Variant Server RECQL4_000361 1/12102 0/8240 1/3862 - - - - - - -
?/? c.413C>G r.(?) p.(Ser138Cys) g.145742090G>C Copied from the Exome Variant Server RECQL4_000360 1/12180 1/8274 0/3906 - - - - - - -
?/? c.423G>A r.(=) p.(=) g.145742080C>T Copied from the Exome Variant Server RECQL4_000359 1/12146 1/8262 0/3884 - - - - - - -
?/? c.425C>T r.(?) p.(Pro142Leu) g.145742078G>A Copied from the Exome Variant Server RECQL4_000358 2/12144 2/8262 0/3882 - - - - - - -
?/? c.447C>T r.(=) p.(=) g.145742056G>A Copied from the Exome Variant Server RECQL4_000357 1/12164 0/8258 1/3906 - - - - - - -
?/? c.465C>G r.(=) p.(=) g.145742038G>C Copied from the Exome Variant Server RECQL4_000356 51/12168 0/8266 51/3902 - - - - - - -
?/? c.492G>A r.(=) p.(=) g.145742011C>T Copied from the Exome Variant Server RECQL4_000355 3/12146 2/8254 1/3892 - - - - - - -
?/? c.514C>T r.(?) p.(Leu172Phe) g.145741989G>A Copied from the Exome Variant Server RECQL4_000354 4/12114 0/8238 4/3876 - - - - - - -
?/? c.517C>T r.(?) p.(Gln173*) g.145741986G>A Copied from the Exome Variant Server RECQL4_000353 1/12114 0/8238 1/3876 - - - - - - -
?/? c.520C>G r.(?) p.(His174Asp) g.145741983G>C Copied from the Exome Variant Server RECQL4_000352 2/12102 2/8236 0/3866 - - - - - - -
?/? c.541C>G r.(?) p.(Gln181Glu) g.145741962G>C Copied from the Exome Variant Server RECQL4_000351 1/12002 0/8206 1/3796 - - - - - - -
?/? c.543G>A r.(=) p.(=) g.145741960C>T Copied from the Exome Variant Server RECQL4_000350 46/11992 43/8198 3/3794 - - - - - - -
?/? c.551G>A r.(?) p.(Gly184Asp) g.145741952C>T Copied from the Exome Variant Server RECQL4_000349 2/11976 1/8196 1/3780 - - - - - - -
?/? c.558A>G r.(=) p.(=) g.145741945T>C Copied from the Exome Variant Server RECQL4_000348 1/11962 1/8186 0/3776 - - - - - - -
?/? c.565G>A r.(?) p.(Gly189Ser) g.145741938C>T Copied from the Exome Variant Server RECQL4_000347 26/11974 0/8188 26/3786 - - - - - - -
?/? c.615C>G r.(=) p.(=) g.145741888G>C Copied from the Exome Variant Server RECQL4_000346 24/11896 19/8154 5/3742 - - - - - - -
?/? c.634C>T r.(=) p.(=) g.145741869G>A Copied from the Exome Variant Server RECQL4_000345 1/12028 0/8216 1/3812 - - - - - - -
?/? c.646G>A r.(?) p.(Glu216Lys) g.145741857C>T Copied from the Exome Variant Server RECQL4_000344 4/12100 1/8244 3/3856 - - - - - - -
?/? c.652_653del r.(?) p.(Gln218Thrfs*6) g.145741850_145741851del Copied from the Exome Variant Server RECQL4_000343 3/11650 2/7910 1/3740 - - - - - - -
?/? c.663C>T r.(=) p.(=) g.145741840G>A Copied from the Exome Variant Server RECQL4_000342 3/12160 0/8258 3/3902 - - - - - - -
?/? c.685G>C r.(?) p.(Gly229Arg) g.145741818C>G Copied from the Exome Variant Server RECQL4_000341 1/12222 1/8270 0/3952 - - - - - - -
?/? c.709C>G r.(?) p.(Pro237Ala) g.145741794G>C Copied from the Exome Variant Server RECQL4_000340 1/12226 1/8280 0/3946 - - - - - - -
?/? c.716C>T r.(?) p.(Ala239Val) g.145741787G>A Copied from the Exome Variant Server RECQL4_000339 16/12276 15/8296 1/3980 - - - - - - -
?/? c.735C>T r.(=) p.(=) g.145741768G>A Copied from the Exome Variant Server RECQL4_000338 1/12330 0/8324 1/4006 - - - - - - -
?/? c.738C>T r.(=) p.(=) g.145741765G>A Copied from the Exome Variant Server RECQL4_000337 4188/12348 3557/8330 631/4018 - - - - - - -
?/? c.754C>T r.(?) p.(Pro252Ser) g.145741749G>A Copied from the Exome Variant Server RECQL4_000336 1/12400 0/8352 1/4048 - - - - - - -
?/? c.758A>G r.(?) p.(Gln253Arg) g.145741745T>C Copied from the Exome Variant Server RECQL4_000335 1/12382 1/8350 0/4032 - - - - - - -
?/? c.778G>A r.(?) p.(Glu260Lys) g.145741725C>T Copied from the Exome Variant Server RECQL4_000334 2/12372 2/8348 0/4024 - - - - - - -
?/? c.801G>C r.(?) p.(Glu267Asp) g.145741702C>G Copied from the Exome Variant Server RECQL4_000333 4798/12244 3184/8308 1614/3936 - - - - - - -
?/? c.817G>A r.(?) p.(Ala273Thr) g.145741686C>T Copied from the Exome Variant Server RECQL4_000332 2/12156 0/8282 2/3874 - - - - - - -
?/? c.865G>A r.(?) p.(Ala289Thr) g.145741638C>T Copied from the Exome Variant Server RECQL4_000331 4/12100 0/8256 4/3844 - - - - - - -
?/? c.891C>T r.(=) p.(=) g.145741612G>A Copied from the Exome Variant Server RECQL4_000330 27/12332 0/8332 27/4000 - - - - - - -
?/? c.893C>T r.(?) p.(Pro298Leu) g.145741610G>A Copied from the Exome Variant Server RECQL4_000329 1/12324 1/8334 0/3990 - - - - - - -
?/? c.899G>A r.(?) p.(Gly300Glu) g.145741604C>T Copied from the Exome Variant Server RECQL4_000328 1/12374 1/8350 0/4024 - - - - - - -
?/? c.909A>G r.(=) p.(=) g.145741594T>C Copied from the Exome Variant Server RECQL4_000326 1/12478 0/8390 1/4088 - - - - - - -
?/? c.923C>T r.(?) p.(Pro308Leu) g.145741580G>A Copied from the Exome Variant Server RECQL4_000324 2/12552 0/8412 2/4140 - - - - - - -
?/? c.929C>G r.(?) p.(Pro310Arg) g.145741574G>C Copied from the Exome Variant Server RECQL4_000322 1/12568 1/8408 0/4160 - - - - - - -
?/? c.944C>T r.(?) p.(Ser315Leu) g.145741559G>A Copied from the Exome Variant Server RECQL4_000320 3/12570 0/8416 3/4154 - - - - - - -
?/? c.945G>A r.(=) p.(=) g.145741558C>T Copied from the Exome Variant Server RECQL4_000318 1/12564 1/8418 0/4146 - - - - - - -
?/? c.999T>C r.(=) p.(=) g.145741504A>G Copied from the Exome Variant Server RECQL4_000316 1/12560 1/8392 0/4168 - - - - - - -
?/? c.1014C>T r.(=) p.(=) g.145741489G>A Copied from the Exome Variant Server RECQL4_000314 1/12546 1/8378 0/4168 - - - - - - -
?/? c.1023C>T r.(=) p.(=) g.145741480G>A Copied from the Exome Variant Server RECQL4_000327 6/12550 0/8388 6/4162 - - - - - - -
?/? c.1048_1049del r.(?) p.(Arg350Glyfs*21) g.145741454_145741455del Copied from the Exome Variant Server RECQL4_000325 1/11986 1/8004 0/3982 - - - - - - -
?/? c.1063C>T r.(?) p.(Arg355Trp) g.145741440G>A Copied from the Exome Variant Server RECQL4_000323 1/12550 1/8378 0/4172 - - - - - - -
?/? c.1064G>C r.(?) p.(Arg355Pro) g.145741439C>G Copied from the Exome Variant Server RECQL4_000321 1/12554 1/8382 0/4172 - - - - - - -
?/? c.1072A>G r.(?) p.(Met358Val) g.145741431T>C Copied from the Exome Variant Server RECQL4_000319 1/12570 0/8388 1/4182 - - - - - - -
?/? c.1073T>C r.(?) p.(Met358Thr) g.145741430A>G Copied from the Exome Variant Server RECQL4_000317 1/12570 1/8388 0/4182 - - - - - - -
?/? c.1078C>T r.(?) p.(Gln360*) g.145741425G>A Copied from the Exome Variant Server RECQL4_000315 1/12548 1/8384 0/4164 - - - - - - -
?/? c.1089C>T r.(=) p.(=) g.145741414G>A Copied from the Exome Variant Server RECQL4_000313 1/12520 1/8378 0/4142 - - - - - - -
?/? c.1090G>A r.(?) p.(Val364Met) g.145741413C>T Copied from the Exome Variant Server RECQL4_000312 52/12506 1/8372 51/4134 - - - - - - -
?/? c.1108C>T r.(?) p.(Arg370Cys) g.145741395G>A Copied from the Exome Variant Server RECQL4_000311 1/12522 1/8370 0/4152 - - - - - - -
?/? c.1109G>A r.(?) p.(Arg370His) g.145741394C>T Copied from the Exome Variant Server RECQL4_000310 1/12516 1/8374 0/4142 - - - - - - -
?/? c.1115G>C r.(?) p.(Arg372Thr) g.145741388C>G Copied from the Exome Variant Server RECQL4_000309 1/12520 1/8382 0/4138 - - - - - - -
?/? c.1117C>T r.(?) p.(Leu373Phe) g.145741386G>A Copied from the Exome Variant Server RECQL4_000308 1/12524 0/8380 1/4144 - - - - - - -
?/? c.1127A>G r.(?) p.(Lys376Arg) g.145741376T>C Copied from the Exome Variant Server RECQL4_000307 1/12486 1/8374 0/4112 - - - - - - -
?/? c.1129C>G r.(?) p.(Gln377Glu) g.145741374G>C Copied from the Exome Variant Server RECQL4_000306 1/12492 1/8374 0/4118 - - - - - - -
?/? c.1131+11G>A r.(=) p.(=) g.145741361C>T Copied from the Exome Variant Server RECQL4_000305 2/12480 2/8362 0/4118 - - - - - - -
?/? c.1131+32C>T r.(=) p.(=) g.145741340G>A Copied from the Exome Variant Server RECQL4_000304 1/12456 1/8346 0/4110 - - - - - - -
?/? c.1131+33C>T r.(=) p.(=) g.145741339G>A Copied from the Exome Variant Server RECQL4_000303 2/12452 2/8344 0/4108 - - - - - - -
?/? c.1132-48C>T r.(=) p.(=) g.145741322G>A Copied from the Exome Variant Server RECQL4_000302 1/12396 0/8336 1/4060 - - - - - - -
?/? c.1132-35C>T r.(=) p.(=) g.145741309G>A Copied from the Exome Variant Server RECQL4_000301 1/12316 0/8310 1/4006 - - - - - - -
?/? c.1132-33G>A r.(=) p.(=) g.145741307C>T Copied from the Exome Variant Server RECQL4_000300 1/12306 1/8308 0/3998 - - - - - - -
?/? c.1132-31C>A r.(=) p.(=) g.145741305G>T Copied from the Exome Variant Server RECQL4_000299 1/12312 0/8312 1/4000 - - - - - - -
?/? c.1132-30C>T r.(=) p.(=) g.145741304G>A Copied from the Exome Variant Server RECQL4_000298 2/12312 2/8312 0/4000 - - - - - - -
?/? c.1132-24C>T r.(=) p.(=) g.145741298G>A Copied from the Exome Variant Server RECQL4_000297 1/12306 1/8312 0/3994 - - - - - - -
?/? c.1132-23C>G r.(=) p.(=) g.145741297G>C Copied from the Exome Variant Server RECQL4_000296 65/12304 2/8310 63/3994 - - - - - - -
?/? c.1132-20C>T r.(=) p.(=) g.145741294G>A Copied from the Exome Variant Server RECQL4_000295 4/12270 0/8296 4/3974 - - - - - - -
?/? c.1132-8C>A r.(=) p.(=) g.145741282G>T Copied from the Exome Variant Server RECQL4_000294 1/12280 1/8306 0/3974 - - - - - - -
?/? c.1151G>A r.(?) p.(Arg384Gln) g.145741255C>T Copied from the Exome Variant Server RECQL4_000293 4/12282 1/8310 3/3972 - - - - - - -
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