Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-169485227-C-T p.Cys371Tyr missense ACTRT3 4 82686 4.83758E-5 41343 0 2.30256E-5
3-169485230-CT-C p.Arg370fs frameshift ACTRT3 1 82788 1.2079E-5 41394 0 NA
3-169485236-T-G p.His368Pro missense ACTRT3 1 82908 1.20616E-5 41454 0 4.40257E-6
3-169485261-T-C p.Lys360Glu missense ACTRT3 54 83170 6.49273E-4 41585 1 0.00108239
3-169485266-T-A p.Glu358Val missense ACTRT3 1 83184 1.20215E-5 41592 0 8.09435E-6
3-169485284-A-G p.Met352Thr missense ACTRT3 1 83230 1.20149E-5 41615 0 NA
3-169485287-T-C p.Asp351Gly missense ACTRT3 1 83224 1.20158E-5 41612 0 3.1837E-5
3-169485290-TG-T p.Gln350fs frameshift ACTRT3 1 83248 1.20123E-5 41624 0 NA
3-169485301-C-G p.Leu346Phe missense ACTRT3 4 83252 4.80469E-5 41626 0 3.97943E-6
3-169485317-G-A p.Ser341Phe missense ACTRT3 1 83266 1.20097E-5 41633 0 6.36401E-5
3-169485326-A-G p.Met338Thr missense ACTRT3 1 83270 1.20091E-5 41635 0 6.36983E-5
3-169485336-A-G p.Ser335Pro missense ACTRT3 373 83270 0.0044794 41635 2 0.00363492
3-169485347-T-A p.Glu331Val missense ACTRT3 2 83290 2.40125E-5 41645 0 NA
3-169485350-G-A p.Pro330Leu missense ACTRT3 1 83292 1.2006E-5 41646 0 NA
3-169485351-G-A p.Pro330Ser missense ACTRT3 2 83292 2.40119E-5 41646 0 NA
3-169485353-G-A p.Pro329Leu missense ACTRT3 1 83288 1.20065E-5 41644 0 3.97693E-6
3-169485354-G-C p.Pro329Ala missense ACTRT3 1 83288 1.20065E-5 41644 0 3.1841E-5
3-169485360-T-C p.Ile327Val missense ACTRT3 1 83288 1.20065E-5 41644 0 8.24321E-6
3-169485361-A-C p.Val326Val synonymous ACTRT3 1 83286 1.20068E-5 41643 0 NA
3-169485366-G-C p.Gln325Glu missense ACTRT3 9 83294 1.08051E-4 41647 0 1.98864E-5
3-169485372-C-T p.Ala323Thr missense ACTRT3 1 83284 1.20071E-5 41642 0 NA
3-169485378-T-G p.Asn321His missense ACTRT3 1 83296 1.20054E-5 41648 0 1.64856E-5
3-169485387-C-T p.Ala318Thr missense ACTRT3 1 83290 1.20062E-5 41645 0 3.97918E-6
3-169485401-T-A p.Asp313Val missense ACTRT3 1 83296 1.20054E-5 41648 0 NA
3-169485403-C-T p.Lys312Lys synonymous ACTRT3 1 83288 1.20065E-5 41644 0 NA
3-169485413-C-T p.Arg309Gln missense ACTRT3 1 83284 1.20071E-5 41642 0 8.2462E-6
3-169485414-G-A p.Arg309Trp missense ACTRT3 14 83286 1.68095E-4 41643 0 8.37074E-5
3-169485416-T-A p.Lys308Met missense ACTRT3 2 83286 2.40136E-5 41643 0 NA
3-169485419-T-C p.Asp307Gly missense ACTRT3 2 83288 2.40131E-5 41644 0 6.3678E-5
3-169485430-G-A p.Phe303Phe synonymous ACTRT3 3 83266 3.60291E-5 41633 0 NA
3-169485436-G-A p.Thr301Thr synonymous ACTRT3 2 83248 2.40246E-5 41624 0 3.1837E-5
3-169485447-C-T p.Gly298Arg missense ACTRT3 1 83214 1.20172E-5 41607 0 1.19585E-5
3-169485460-A-G p.Asn293Asn synonymous ACTRT3 1 83196 1.20198E-5 41598 0 NA
3-169485461-T-C p.Asn293Ser missense ACTRT3 2 83200 2.40385E-5 41600 0 1.64908E-5
3-169485469-G-A p.Phe290Phe synonymous ACTRT3 250 83182 0.00300546 41591 1 0.00456479
3-169485499-C-T p.Met280Ile missense ACTRT3 3 83210 3.60534E-5 41605 0 3.97795E-6
3-169485506-CT-C p.Ser278fs frameshift ACTRT3 1 83198 1.20195E-5 41599 0 3.97753E-6
3-169485515-C-T p.Cys275Tyr missense ACTRT3 1 83202 1.20189E-5 41601 0 NA
3-169485519-T-C p.Ile274Val missense ACTRT3 2 83222 2.40321E-5 41611 0 3.1841E-5
3-169485531-C-T p.Gly270Ser missense ACTRT3 1 83236 1.2014E-5 41618 0 NA
3-169485538-C-T p.Glu267Glu synonymous ACTRT3 1 83246 1.20126E-5 41623 0 3.18512E-5
3-169485543-G-T p.Leu266Ile missense ACTRT3 1 83254 1.20114E-5 41627 0 8.24117E-6
3-169485556-C-T p.Pro261Pro synonymous ACTRT3 4 83262 4.80411E-5 41631 0 6.3674E-5
3-169485557-G-A p.Pro261Leu missense ACTRT3 4 83268 4.80377E-5 41634 0 1.2734E-4
3-169485561-A-C p.Ser260Ala missense ACTRT3 1 83274 1.20085E-5 41637 0 9.55231E-5
3-169485588-G-C p.Leu251Val missense ACTRT3 1397 83296 0.0167715 41648 18 0.0302115
3-169485590-T-C p.Gln250Arg missense ACTRT3 14 83304 1.68059E-4 41652 0 0.0025
3-169485625-T-C p.Gln238Gln synonymous ACTRT3 2 83314 2.40056E-5 41657 0 NA
3-169485638-T-C p.Glu234Gly missense ACTRT3 2 83314 2.40056E-5 41657 0 3.1839E-5
3-169485639-C-T p.Glu234Lys missense ACTRT3 2890 83276 0.0347039 41638 92 0.0448137
3-169485640-T-C p.Leu233Leu synonymous ACTRT3 1 83310 1.20034E-5 41655 0 NA
3-169485642-G-C p.Leu233Val missense ACTRT3 1 83308 1.20036E-5 41654 0 2.47166E-5
3-169485646-A-G p.Asp231Asp synonymous ACTRT3 4 83312 4.80123E-5 41656 0 3.18512E-5
3-169485648-C-G p.Asp231His missense ACTRT3 1 83308 1.20036E-5 41654 0 1.64777E-5
3-169485651-G-A p.Pro230Ser missense ACTRT3 2 83318 2.40044E-5 41659 0 9.1476E-5
3-169485654-T-G p.Lys229Gln missense ACTRT3 2 83320 2.40038E-5 41660 0 NA
3-169485661-C-T p.Met226Ile missense ACTRT3 1 83308 1.20036E-5 41654 0 NA
3-169485671-T-C p.Glu223Gly missense ACTRT3 2 83318 2.40044E-5 41659 0 NA
3-169485672-C-T p.Glu223Lys missense ACTRT3 1 83318 1.20022E-5 41659 0 5.03525E-4
3-169485673-G-A p.Tyr222Tyr synonymous ACTRT3 279 83308 0.00334902 41654 2 0.00704935
3-169485690-A-G p.Tyr217His missense ACTRT3 1 83324 1.20013E-5 41662 0 NA
3-169485696-A-G p.Phe215Leu missense ACTRT3 1 83318 1.20022E-5 41659 0 NA
3-169485727-G-C p.Asp204Glu missense ACTRT3 1 83306 1.20039E-5 41653 0 NA
3-169485741-G-A p.Leu200Phe missense ACTRT3 4 83284 4.80284E-5 41642 0 6.36983E-5
3-169485747-T-C p.Met198Val missense ACTRT3 3 83286 3.60205E-5 41643 0 3.18492E-5
3-169485771-C-T p.Val190Met missense ACTRT3 1 83286 1.20068E-5 41643 0 NA
3-169485782-T-C p.Asn186Ser missense ACTRT3 1 83270 1.20091E-5 41635 0 NA
3-169485806-T-G p.Asp178Ala missense ACTRT3 4 83270 4.80365E-5 41635 0 1.5912E-5
3-169485810-G-A p.Leu177Leu synonymous ACTRT3 6 83270 7.20548E-5 41635 0 4.9469E-5
3-169485811-T-C p.Gln176Gln synonymous ACTRT3 1 83274 1.20085E-5 41637 0 NA
3-169485811-T-A p.Gln176His missense ACTRT3 1 83274 1.20085E-5 41637 0 NA
3-169485827-G-A p.Pro171Leu missense ACTRT3 1 83280 1.20077E-5 41640 0 NA
3-169485829-C-G p.Leu170Leu synonymous ACTRT3 2 83280 2.40154E-5 41640 0 NA
3-169485839-C-A p.Gly167Val missense ACTRT3 1 83276 1.20083E-5 41638 0 NA
3-169485843-C-G p.Glu166Gln missense ACTRT3 2 83278 2.40159E-5 41639 0 1.19373E-5
3-169485851-G-A p.Pro163Leu missense ACTRT3 1 83276 1.20083E-5 41638 0 NA
3-169485854-A-C p.Val162Gly missense ACTRT3 1 83274 1.20085E-5 41637 0 NA
3-169485873-C-T p.Ala156Thr missense ACTRT3 1 83272 1.20088E-5 41636 0 NA
3-169485874-A-C p.Gly155Gly synonymous ACTRT3 1 83276 1.20083E-5 41638 0 1.81653E-4
3-169485887-A-G p.Val151Ala missense ACTRT3 1 83270 1.20091E-5 41635 0 NA
3-169485888-C-CA p.Val151fs frameshift ACTRT3 1 83276 1.20083E-5 41638 0 NA
3-169485896-G-T p.Thr148Asn missense ACTRT3 2 83260 2.40211E-5 41630 0 7.43237E-5
3-169485909-C-T p.Ala144Thr missense ACTRT3 3 83274 3.60256E-5 41637 0 1.19388E-5
3-169485918-G-C p.Leu141Val missense ACTRT3 1 83268 1.20094E-5 41634 0 NA
3-169485936-T-C p.Ile135Val missense ACTRT3 1 83264 1.201E-5 41632 0 1.65074E-5
3-169485941-A-G p.Met133Thr missense ACTRT3 54 83268 6.48508E-4 41634 1 0.00108273
3-169485944-T-C p.Tyr132Cys missense ACTRT3 4 83264 4.804E-5 41632 0 1.65079E-5
3-169485944-T-G p.Tyr132Ser missense ACTRT3 1 83264 1.201E-5 41632 0 NA
3-169485946-G-A p.Phe131Phe synonymous ACTRT3 1 83262 1.20103E-5 41631 0 5.03525E-4
3-169485949-G-A p.Ala130Ala synonymous ACTRT3 21 83270 2.52192E-4 41635 0 9.15059E-5
3-169485952-A-C p.Pro129Pro synonymous ACTRT3 1 83272 1.20088E-5 41636 0 7.95748E-6
3-169485953-G-C p.Pro129Arg missense ACTRT3 1 83270 1.20091E-5 41635 0 3.18492E-5
3-169485956-A-G p.Val128Ala missense ACTRT3 1 83276 1.20083E-5 41638 0 NA
3-169485965-T-TG p.His125fs frameshift ACTRT3 1 83278 1.2008E-5 41639 0 NA
3-169485986-ATC-A p.Gln117fs frameshift ACTRT3 2 83254 2.40229E-5 41627 0 NA
3-169485989-T-A p.Gln117Leu missense ACTRT3 1400 83242 0.0168184 41621 59 0.0357166
3-169485996-G-A p.Arg115Trp missense ACTRT3 1 83244 1.20129E-5 41622 0 3.97912E-6
3-169485996-G-T p.Arg115Arg synonymous ACTRT3 8 83244 9.6103E-5 41622 0 6.25E-4
3-169486006-T-C p.Pro111Pro synonymous ACTRT3 2 83240 2.40269E-5 41620 0 NA
3-169486009-G-A p.Asn110Asn synonymous ACTRT3 1 83232 1.20146E-5 41616 0 1.59327E-4
3-169486015-C-T p.Ala108Ala synonymous ACTRT3 2 83218 2.40333E-5 41609 0 8.26009E-6
3-169486020-G-C p.Pro107Ala missense ACTRT3 2 83212 2.4035E-5 41606 0 NA
3-169486040-C-A p.Gly100Val missense ACTRT3 6 83176 7.21362E-5 41588 0 8.262E-6
3-169486040-C-G p.Gly100Ala missense ACTRT3 1 83176 1.20227E-5 41588 0 NA
3-169486041-C-A p.Gly100Cys missense ACTRT3 1 83190 1.20207E-5 41595 0 3.98073E-6
3-169486043-T-TCA p.Asp99fs frameshift ACTRT3 1 83180 1.20221E-5 41590 0 NA
3-169486049-G-T p.Pro97Gln missense ACTRT3 1 83172 1.20233E-5 41586 0 NA
3-169486057-C-G p.Lys94Asn missense ACTRT3 2 83184 2.40431E-5 41592 0 3.18492E-5
3-169486060-T-C p.Leu93Leu synonymous ACTRT3 1 83196 1.20198E-5 41598 0 3.18471E-5
3-169486073-T-C p.Tyr89Cys missense ACTRT3 1 83186 1.20213E-5 41593 0 3.98108E-6
3-169486088-A-C p.Met84Arg missense ACTRT3 1 83170 1.20236E-5 41585 0 NA
3-169486091-A-G p.Ile83Thr missense ACTRT3 1 83172 1.20233E-5 41586 0 NA
3-169486120-AC-A p.Gly73fs frameshift ACTRT3 1 83184 1.20215E-5 41592 0 NA
3-169486122-C-G p.Gly73Arg missense ACTRT3 3 83182 3.60655E-5 41591 0 NA
3-169486125-G-A p.Arg72Cys missense ACTRT3 2 83150 2.40529E-5 41575 0 3.98902E-6
3-169486133-G-C p.Pro69Arg missense ACTRT3 2 83158 2.40506E-5 41579 0 NA
3-169486135-G-A p.Tyr68Tyr synonymous ACTRT3 3 83152 3.60785E-5 41576 0 2.00239E-5
3-169486144-A-G c.201-6T>C splice_region ACTRT3 22866 79904 0.286168 39952 2981 0.38125
3-169486145-G-A c.201-7C>T splice_region ACTRT3 77 83104 9.2655E-4 41552 0 5.43558E-4
3-169486145-G-C c.201-7C>G splice_region ACTRT3 1 83106 1.20328E-5 41553 0 4.0564E-6
3-169487101-G-A c.200+8C>T splice_region ACTRT3 4 60104 6.65513E-5 30052 0 3.82555E-4
3-169487105-G-A c.200+4C>T splice_region ACTRT3 1 63630 1.57159E-5 31815 0 2.89118E-5
3-169487119-G-C p.Leu64Val missense ACTRT3 1 72752 1.37453E-5 36376 0 NA
3-169487127-C-T p.Arg61Lys missense ACTRT3 1 76218 1.31203E-5 38109 0 NA
3-169487151-A-G p.Val53Ala missense ACTRT3 7 79552 8.79928E-5 39776 0 4.02188E-5
3-169487153-G-A p.Cys52Cys synonymous ACTRT3 2 79658 2.51073E-5 39829 0 NA
3-169487157-A-C p.Leu51Arg missense ACTRT3 1 80036 1.24944E-5 40018 0 3.64299E-5
3-169487159-T-C p.Glu50Glu synonymous ACTRT3 3 80112 3.74476E-5 40056 0 9.63688E-6
3-169487164-G-T p.Leu49Ile missense ACTRT3 3 80384 3.73209E-5 40192 0 1.22132E-5
3-169487167-C-T p.Gly48Arg missense ACTRT3 1 80434 1.24326E-5 40217 0 9.41141E-6
3-169487179-C-A p.Ala44Ser missense ACTRT3 1 80402 1.24375E-5 40201 0 NA
3-169487181-C-T p.Arg43His missense ACTRT3 8 80398 9.9505E-5 40199 0 2.75349E-4
3-169487182-G-T p.Arg43Ser missense ACTRT3 11 80396 1.36823E-4 40198 0 1.34771E-4
3-169487184-C-T p.Ser42Asn missense ACTRT3 1 80412 1.2436E-5 40206 0 NA
3-169487186-C-T p.Gln41Gln synonymous ACTRT3 1 80454 1.24295E-5 40227 0 NA
3-169487199-C-A p.Arg37Leu missense ACTRT3 14 80332 1.74277E-4 40166 0 0.00151362
3-169487200-G-C p.Arg37Gly missense ACTRT3 1 80372 1.24421E-5 40186 0 4.04632E-6
3-169487210-G-T p.Asn33Lys missense ACTRT3 2 80598 2.48145E-5 40299 0 NA
3-169487216-G-C p.Tyr31* stop_gained ACTRT3 1 80644 1.24002E-5 40322 0 3.29446E-5
3-169487216-G-A p.Tyr31Tyr synonymous ACTRT3 1 80644 1.24002E-5 40322 0 4.0331E-6
3-169487236-G-A p.Arg25Trp missense ACTRT3 1 80896 1.23616E-5 40448 0 5.04541E-4
3-169487240-C-A p.Gly23Gly synonymous ACTRT3 1 81002 1.23454E-5 40501 0 4.04236E-6
3-169487242-C-G p.Gly23Arg missense ACTRT3 1 81060 1.23365E-5 40530 0 4.04158E-6
3-169487251-C-T p.Gly20Ser missense ACTRT3 1 81364 1.22904E-5 40682 0 4.03995E-6
3-169487255-C-T p.Lys18Lys synonymous ACTRT3 1 81428 1.22808E-5 40714 0 2.58056E-5
3-169487267-C-T p.Ser14Ser synonymous ACTRT3 1 81526 1.2266E-5 40763 0 1.75963E-5
3-169487290-G-C p.Pro7Ala missense ACTRT3 11 81736 1.3458E-4 40868 1 3.43377E-5
3-169487290-G-A p.Pro7Ser missense ACTRT3 1 81736 1.22345E-5 40868 0 NA
3-169487294-CTGGCAG-C p.His3_Cys4del disruptive_inframe_deletion ACTRT3 1 81702 1.22396E-5 40851 0 NA
3-169487295-T-A p.Gln5Leu missense ACTRT3 1 81692 1.22411E-5 40846 0 NA
3-169487304-T-C p.Asn2Ser missense ACTRT3 1 81472 1.22742E-5 40736 0 NA
3-169487307-ATGCCGCCGCTGC-A p.Met1del start_lost ACTRT3 2 81332 2.45906E-5 40666 0 3.22872E-5
3-169487366-G-A c.-58C>T 5_prime_UTR_premature_start_codon_gain ACTRT3 2 74192 2.69571E-5 37096 0 NA
3-169487403-C-A c.-95G>T 5_prime_UTR_premature_start_codon_gain ACTRT3 1 61714 1.62038E-5 30857 0 NA
3-169487404-G-A c.-96C>T 5_prime_UTR_premature_start_codon_gain ACTRT3 2 63632 3.14307E-5 31816 0 NA
3-169487409-G-A c.-101C>T 5_prime_UTR_premature_start_codon_gain ACTRT3 3 62620 4.7908E-5 31310 0 3.20061E-5
3-169487612-T-A c.-304A>T 5_prime_UTR_premature_start_codon_gain ACTRT3 8 11538 6.93361E-4 5769 0 0.0019744
3-169487616-C-T c.-308G>A 5_prime_UTR_premature_start_codon_gain ACTRT3 1 11032 9.06454E-5 5516 0 NA