Full data view for gene FLNA

Information The variants shown are described using the NM_001110556.1 transcript reference sequence.

380 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.-19del r.(=) p.(=) g.153599632del Copied from the Exome Variant Server FLNA_000007 76/7609 48/5051 28/2558 - - - - - - -
?/? c.-19dup r.(=) p.(=) g.153599632dup Copied from the Exome Variant Server FLNA_000006 31/7609 12/5051 19/2558 - - - - - - -
?/? c.64_65insTCG r.(?) p.(Val21dup) g.153599549_153599550insCGA Copied from the Exome Variant Server FLNA_000005 12/9822 9/6281 3/3541 - - - - - - -
?/? c.234C>A r.(=) p.(=) g.153599380G>T Copied from the Exome Variant Server FLNA_000004 1/10555 1/6722 0/3833 - - - - - - -
?/? c.240G>C r.(=) p.(=) g.153599374C>G Copied from the Exome Variant Server FLNA_000003 1/10554 0/6722 1/3832 - - - - - - -
?/? c.373+10G>T r.(=) p.(=) g.153599231C>A Copied from the Exome Variant Server FLNA_000002 1/10412 0/6654 1/3758 - - - - - - -
?/? c.373+39G>A r.(=) p.(=) g.153599202C>T Copied from the Exome Variant Server FLNA_000001 1/9852 1/6452 0/3400 - - - - - - -
?/? c.373+41A>T r.(=) p.(=) g.153599200T>A Copied from the Exome Variant Server FLNA_000176 1/9841 0/6442 1/3399 - - - - - - -
?/? c.374-52C>T r.(=) p.(=) g.153596510G>A Copied from the Exome Variant Server FLNA_000175 1/5647 1/3465 0/2182 - - - - - - -
?/? c.374-51G>A r.(=) p.(=) g.153596509C>T Copied from the Exome Variant Server FLNA_000174 7/10207 0/6581 7/3626 - - - - - - -
?/? c.374-43C>A r.(=) p.(=) g.153596501G>T Copied from the Exome Variant Server FLNA_000173 1/10263 1/6593 0/3670 - - - - - - -
?/? c.374-40C>T r.(=) p.(=) g.153596498G>A Copied from the Exome Variant Server FLNA_000172 1/10285 0/6605 1/3680 - - - - - - -
?/? c.374-34C>T r.(=) p.(=) g.153596492G>A Copied from the Exome Variant Server FLNA_000171 1/10338 1/6622 0/3716 - - - - - - -
?/? c.374-19G>A r.(=) p.(=) g.153596477C>T Copied from the Exome Variant Server FLNA_000170 467/10434 424/6658 43/3776 - - - - - - -
?/? c.387C>T r.(=) p.(=) g.153596445G>A Copied from the Exome Variant Server FLNA_000169 1/10495 1/6697 0/3798 - - - - - - -
?/? c.543G>C r.(=) p.(=) g.153596289C>G Copied from the Exome Variant Server FLNA_000168 2/10164 2/6601 0/3563 - - - - - - -
?/? c.597C>T r.(=) p.(=) g.153596235G>A Copied from the Exome Variant Server FLNA_000167 1/9753 1/6439 0/3314 - - - - - - -
?/? c.622+18C>A r.(=) p.(=) g.153596192G>T Copied from the Exome Variant Server FLNA_000166 1/9686 0/6434 1/3252 - - - - - - -
?/? c.622+23G>A r.(=) p.(=) g.153596187C>T Copied from the Exome Variant Server FLNA_000165 110/9695 0/6431 110/3264 - - - - - - -
?/? c.623-49T>C r.(=) p.(=) g.153596155A>G Copied from the Exome Variant Server FLNA_000164 24/9848 0/6479 24/3369 - - - - - - -
?/? c.623-5C>T r.spl? p.? g.153596111G>A Copied from the Exome Variant Server FLNA_000163 1/10273 0/6626 1/3647 - - - - - - -
?/? c.651C>T r.(=) p.(=) g.153596078G>A Copied from the Exome Variant Server FLNA_000162 13/10398 0/6667 13/3731 - - - - - - -
?/? c.663C>T r.(=) p.(=) g.153596066G>A Copied from the Exome Variant Server FLNA_000161 2/10419 1/6674 1/3745 - - - - - - -
?/? c.675G>A r.(=) p.(=) g.153596054C>T Copied from the Exome Variant Server FLNA_000160 1/10432 1/6673 0/3759 - - - - - - -
?/? c.720+8C>T r.(=) p.(=) g.153596001G>A Copied from the Exome Variant Server FLNA_000159 1/10369 1/6660 0/3709 - - - - - - -
?/? c.720+12C>T r.(=) p.(=) g.153595997G>A Copied from the Exome Variant Server FLNA_000158 10/10332 0/6651 10/3681 - - - - - - -
?/? c.720+42C>T r.(=) p.(=) g.153595967G>A Copied from the Exome Variant Server FLNA_000157 2/10343 2/6670 0/3673 - - - - - - -
?/? c.720+44G>T r.(=) p.(=) g.153595965C>A Copied from the Exome Variant Server FLNA_000156 1/10343 0/6670 1/3673 - - - - - - -
?/? c.721-46G>T r.(=) p.(=) g.153595958C>A Copied from the Exome Variant Server FLNA_000294 15/10365 14/6672 1/3693 - - - - - - -
?/? c.721-11G>A r.(=) p.(=) g.153595923C>T Copied from the Exome Variant Server FLNA_000293 1/10509 1/6712 0/3797 - - - - - - -
?/? c.732C>T r.(=) p.(=) g.153595901G>A Copied from the Exome Variant Server FLNA_000292 2/10536 2/6723 0/3813 - - - - - - -
?/? c.753C>T r.(=) p.(=) g.153595880G>A Copied from the Exome Variant Server FLNA_000291 5/10553 0/6728 5/3825 - - - - - - -
?/? c.861C>T r.(=) p.(=) g.153595772G>A Copied from the Exome Variant Server FLNA_000290 4/10433 1/6680 3/3753 - - - - - - -
?/? c.868+33G>A r.(=) p.(=) g.153595732C>T Copied from the Exome Variant Server FLNA_000289 1/10219 0/6609 1/3610 - - - - - - -
?/? c.869-47T>C r.(=) p.(=) g.153595265A>G Copied from the Exome Variant Server FLNA_000288 1/10215 1/6597 0/3618 - - - - - - -
?/? c.869-46G>A r.(=) p.(=) g.153595264C>T Copied from the Exome Variant Server FLNA_000287 1/10227 0/6601 1/3626 - - - - - - -
?/? c.869-41C>T r.(=) p.(=) g.153595259G>A Copied from the Exome Variant Server FLNA_000286 1635/10239 1278/6599 357/3640 - - - - - - -
?/? c.869-28C>G r.(=) p.(=) g.153595246G>C Copied from the Exome Variant Server FLNA_000285 1731/10265 1294/6608 437/3657 - - - - - - -
?/? c.869-26G>A r.(=) p.(=) g.153595244C>T Copied from the Exome Variant Server FLNA_000284 1/10269 1/6602 0/3667 - - - - - - -
?/? c.869-23G>C r.(=) p.(=) g.153595241C>G Copied from the Exome Variant Server FLNA_000283 24/10280 0/6609 24/3671 - - - - - - -
?/? c.869-7C>T r.(=) p.(=) g.153595225G>A Copied from the Exome Variant Server FLNA_000282 116/10282 0/6617 116/3665 - - - - - - -
?/? c.882A>G r.(=) p.(=) g.153595205T>C Copied from the Exome Variant Server FLNA_000281 1/10308 1/6637 0/3671 - - - - - - -
?/? c.901C>T r.(?) p.(Arg301Trp) g.153595186G>A Copied from the Exome Variant Server FLNA_000280 1/10309 1/6642 0/3667 - - - - - - -
?/? c.902G>T r.(?) p.(Arg301Leu) g.153595185C>A Copied from the Exome Variant Server FLNA_000279 1/10318 0/6643 1/3675 - - - - - - -
?/? c.942A>G r.(=) p.(=) g.153595145T>C Copied from the Exome Variant Server FLNA_000278 9/10274 0/6626 9/3648 - - - - - - -
?/? c.957C>T r.(=) p.(=) g.153595130G>A Copied from the Exome Variant Server FLNA_000225 1/10204 1/6592 0/3612 - - - - - - -
?/? c.968C>T r.(?) p.(Pro323Leu) g.153595119G>A Copied from the Exome Variant Server FLNA_000224 1/10098 1/6552 0/3546 - - - - - - -
?/? c.987+12T>A r.(=) p.(=) g.153595088A>T Copied from the Exome Variant Server FLNA_000223 1/9901 1/6496 0/3405 - - - - - - -
?/? c.988-14C>T r.(=) p.(=) g.153595021G>A Copied from the Exome Variant Server FLNA_000222 1/10004 1/6514 0/3490 - - - - - - -
?/? c.1019G>T r.(?) p.(Arg340Leu) g.153594976C>A Copied from the Exome Variant Server FLNA_000221 1/10028 1/6520 0/3508 - - - - - - -
?/? c.1029C>T r.(=) p.(=) g.153594966G>A Copied from the Exome Variant Server FLNA_000220 6/10016 6/6522 0/3494 - - - - - - -
?/? c.1044C>T r.(=) p.(=) g.153594951G>A Copied from the Exome Variant Server FLNA_000219 5/9992 1/6520 4/3472 - - - - - - -
?/? c.1045G>A r.(?) p.(Glu349Lys) g.153594950C>T Copied from the Exome Variant Server FLNA_000218 2/9981 1/6519 1/3462 - - - - - - -
?/? c.1054G>A r.(?) p.(Gly352Arg) g.153594941C>T Copied from the Exome Variant Server FLNA_000217 1/9961 0/6511 1/3450 - - - - - - -
?/? c.1066-22C>T r.(=) p.(=) g.153594860G>A Copied from the Exome Variant Server FLNA_000216 3/9798 3/6478 0/3320 - - - - - - -
?/? c.1066-19C>T r.(=) p.(=) g.153594857G>A Copied from the Exome Variant Server FLNA_000215 7/9823 0/6483 7/3340 - - - - - - -
?/? c.1093A>G r.(?) p.(Ile365Val) g.153594811T>C Copied from the Exome Variant Server FLNA_000214 2/10043 0/6541 2/3502 - - - - - - -
?/? c.1095C>T r.(=) p.(=) g.153594809G>A Copied from the Exome Variant Server FLNA_000213 1/10037 1/6539 0/3498 - - - - - - -
?/? c.1167C>T r.(=) p.(=) g.153594737G>A Copied from the Exome Variant Server FLNA_000212 1/10319 1/6635 0/3684 - - - - - - -
?/? c.1176G>A r.(=) p.(=) g.153594728C>T Copied from the Exome Variant Server FLNA_000211 67/10344 61/6635 6/3709 - - - - - - -
?/? c.1180A>G r.(?) p.(Ser394Gly) g.153594724T>C Copied from the Exome Variant Server FLNA_000210 1/10349 0/6638 1/3711 - - - - - - -
?/? c.1191C>T r.(=) p.(=) g.153594713G>A Copied from the Exome Variant Server FLNA_000209 6/10345 6/6642 0/3703 - - - - - - -
?/? c.1229-8C>T r.(=) p.(=) g.153594600G>A Copied from the Exome Variant Server FLNA_000208 5/10117 1/6556 4/3561 - - - - - - -
?/? c.1239G>A r.(=) p.(=) g.153594582C>T Copied from the Exome Variant Server FLNA_000207 6/10179 1/6555 5/3624 - - - - - - -
?/? c.1249G>A r.(?) p.(Glu417Lys) g.153594572C>T Copied from the Exome Variant Server FLNA_000206 1/10210 0/6566 1/3644 - - - - - - -
?/? c.1266C>T r.(=) p.(=) g.153594555G>A Copied from the Exome Variant Server FLNA_000205 1/10225 1/6575 0/3650 - - - - - - -
?/? c.1285A>T r.(?) p.(Thr429Ser) g.153594536T>A Copied from the Exome Variant Server FLNA_000204 1/10231 0/6569 1/3662 - - - - - - -
?/? c.1286C>T r.(?) p.(Thr429Met) g.153594535G>A Copied from the Exome Variant Server FLNA_000203 116/10231 107/6569 9/3662 - - - - - - -
?/? c.1376C>T r.(?) p.(Thr459Met) g.153594445G>A Copied from the Exome Variant Server FLNA_000202 2/10375 0/6631 2/3744 - - - - - - -
?/? c.1383C>T r.(=) p.(=) g.153594438G>A Copied from the Exome Variant Server FLNA_000201 2/10375 2/6634 0/3741 - - - - - - -
?/? c.1399C>T r.(?) p.(Arg467Cys) g.153594422G>A Copied from the Exome Variant Server FLNA_000277 1/10348 1/6627 0/3721 - - - - - - -
?/? c.1429+8C>T r.(=) p.(=) g.153594384G>A Copied from the Exome Variant Server FLNA_000276 20/10153 17/6576 3/3577 - - - - - - -
?/? c.1429+39A>T r.(=) p.(=) g.153594353T>A Copied from the Exome Variant Server FLNA_000275 1/9884 1/6482 0/3402 - - - - - - -
?/? c.1430-44G>A r.(=) p.(=) g.153593898C>T Copied from the Exome Variant Server FLNA_000274 1/9715 1/6422 0/3293 - - - - - - -
?/? c.1450C>T r.(?) p.(Arg484Trp) g.153593834G>A Copied from the Exome Variant Server FLNA_000273 2/9779 0/6469 2/3310 - - - - - - -
?/? c.1567+35C>T r.(=) p.(=) g.153593682G>A Copied from the Exome Variant Server FLNA_000272 2/9876 0/6463 2/3413 - - - - - - -
?/? c.1567+45_1568-44insC r.spl? p.? g.153593671_153593672insG Copied from the Exome Variant Server FLNA_000271 6/9419 0/6195 6/3224 - - - - - - -
?/? c.1568-36T>C r.(=) p.(=) g.153593663A>G Copied from the Exome Variant Server FLNA_000270 1/9845 0/6461 1/3384 - - - - - - -
?/? c.1568-32G>A r.(=) p.(=) g.153593659C>T Copied from the Exome Variant Server FLNA_000300 1/9838 1/6462 0/3376 - - - - - - -
?/? c.1579C>T r.(?) p.(Arg527Cys) g.153593616G>A Copied from the Exome Variant Server FLNA_000299 8/9981 8/6491 0/3490 - - - - - - -
?/? c.1653C>T r.(=) p.(=) g.153593542G>A Copied from the Exome Variant Server FLNA_000298 1/10201 0/6565 1/3636 - - - - - - -
?/? c.1691+7C>A r.(=) p.(=) g.153593497G>T Copied from the Exome Variant Server FLNA_000297 3/10277 3/6603 0/3674 - - - - - - -
?/? c.1691+46_1691+50del r.(=) p.(=) g.153593454_153593458del Copied from the Exome Variant Server FLNA_000296 170/9822 8/6328 162/3494 - - - - - - -
?/? c.1692-40_1692-38del r.(=) p.(=) g.153593363_153593365del Copied from the Exome Variant Server FLNA_000295 3/9749 1/6313 2/3436 - - - - - - -
?/? c.1692-21G>A r.(=) p.(=) g.153593346C>T Copied from the Exome Variant Server FLNA_000370 2/10184 0/6573 2/3611 - - - - - - -
?/? c.1710G>A r.(=) p.(=) g.153593307C>T Copied from the Exome Variant Server FLNA_000369 1/10180 1/6577 0/3603 - - - - - - -
?/? c.1716C>T r.(=) p.(=) g.153593301G>A Copied from the Exome Variant Server FLNA_000200 5/10170 4/6567 1/3603 - - - - - - -
?/? c.1756C>T r.(=) p.(=) g.153593261G>A Copied from the Exome Variant Server FLNA_000199 1/10221 1/6582 0/3639 - - - - - - -
?/? c.1761G>A r.(=) p.(=) g.153593256C>T Copied from the Exome Variant Server FLNA_000198 2/10235 0/6592 2/3643 - - - - - - -
?/? c.1767C>T r.(=) p.(=) g.153593250G>A Copied from the Exome Variant Server FLNA_000197 1/10283 0/6608 1/3675 - - - - - - -
?/? c.1794G>A r.(=) p.(=) g.153593223C>T Copied from the Exome Variant Server FLNA_000196 1/10364 1/6630 0/3734 - - - - - - -
?/? c.1807G>A r.(?) p.(Gly603Arg) g.153593210C>T Copied from the Exome Variant Server FLNA_000195 1/10395 0/6634 1/3761 - - - - - - -
?/? c.1812C>T r.(=) p.(=) g.153593205G>A Copied from the Exome Variant Server FLNA_000194 1/10397 1/6632 0/3765 - - - - - - -
?/? c.1828+3A>G r.spl? p.? g.153593186T>C Copied from the Exome Variant Server FLNA_000193 1/10428 0/6649 1/3779 - - - - - - -
?/? c.1828+31G>C r.(=) p.(=) g.153593158C>G Copied from the Exome Variant Server FLNA_000192 1/10418 1/6639 0/3779 - - - - - - -
?/? c.1829-13T>C r.(=) p.(=) g.153593100A>G Copied from the Exome Variant Server FLNA_000191 74/10393 0/6642 74/3751 - - - - - - -
?/? c.1875C>T r.(=) p.(=) g.153593041G>A Copied from the Exome Variant Server FLNA_000190 18/10438 17/6658 1/3780 - - - - - - -
?/? c.1881C>T r.(=) p.(=) g.153593035G>A Copied from the Exome Variant Server FLNA_000189 7/10442 0/6656 7/3786 - - - - - - -
?/? c.1900C>T r.(?) p.(Arg634Cys) g.153593016G>A Copied from the Exome Variant Server FLNA_000188 1/10414 0/6656 1/3758 - - - - - - -
?/? c.1933G>A r.(?) p.(Val645Ile) g.153592983C>T Copied from the Exome Variant Server FLNA_000187 2/10412 0/6650 2/3762 - - - - - - -
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