Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-35082616-G-A p.Phe377Phe synonymous ACTC1 1 83086 1.20357E-5 41543 0 1.59057E-5
15-35082622-T-C p.Lys375Lys synonymous ACTC1 1 83152 1.20262E-5 41576 0 NA
15-35082628-G-A p.His373His synonymous ACTC1 2 83174 2.4046E-5 41587 0 3.97652E-6
15-35082635-A-G p.Ile371Thr missense ACTC1 3 83252 3.60352E-5 41626 0 8.23655E-6
15-35082648-C-T p.Ala367Thr missense ACTC1 1 83298 1.20051E-5 41649 0 NA
15-35082649-C-T p.Glu366Glu synonymous ACTC1 3 83306 3.60118E-5 41653 0 1.64734E-5
15-35082655-G-A p.Tyr364Tyr synonymous ACTC1 7 83330 8.40034E-5 41665 0 0.003125
15-35082694-C-G p.Leu351Leu synonymous ACTC1 5 83338 5.99966E-5 41669 1 4.11821E-5
15-35082712-G-T p.Gly345Gly synonymous ACTC1 2 83318 2.40044E-5 41659 0 NA
15-35082712-G-A p.Gly345Gly synonymous ACTC1 1 83318 1.20022E-5 41659 0 7.95342E-6
15-35082741-CA-C p.Glu336fs frameshift ACTC1 1 83288 1.20065E-5 41644 0 NA
15-35082755-A-G p.Ile331Thr missense+splice_region ACTC1 1 83246 1.20126E-5 41623 0 NA
15-35082756-T-A p.Ile331Phe missense+splice_region ACTC1 1 83244 1.20129E-5 41622 0 NA
15-35083307-T-C c.990+8A>G splice_region ACTC1 1 83158 1.20253E-5 41579 0 4.16535E-6
15-35083330-G-A p.Ser325Ser synonymous ACTC1 4 83304 4.80169E-5 41652 0 4.0233E-6
15-35083338-C-T p.Ala323Thr missense ACTC1 2 83338 2.39987E-5 41669 0 1.7148E-5
15-35083355-T-TTC p.Lys317fs frameshift ACTC1 1 83372 1.19944E-5 41686 0 NA
15-35083363-A-G p.Arg314Arg synonymous ACTC1 1 83388 1.19921E-5 41694 0 3.18471E-5
15-35083375-A-G p.Gly310Gly synonymous ACTC1 2 83392 2.39831E-5 41696 0 5.03525E-4
15-35083378-A-G p.Pro309Pro synonymous ACTC1 1083 83368 0.0129906 41684 23 0.0214982
15-35083385-A-G p.Met307Thr missense ACTC1 3 83386 3.59773E-5 41693 0 7.9533E-6
15-35083402-T-C p.Leu301Leu synonymous ACTC1 11 83386 1.31917E-4 41693 0 3.18512E-5
15-35083411-G-A p.Asn298Asn synonymous ACTC1 1 83382 1.1993E-5 41691 0 NA
15-35083426-C-T p.Lys293Lys synonymous ACTC1 2 83370 2.39894E-5 41685 0 NA
15-35083446-A-C p.Cys287Gly missense ACTC1 1 83290 1.20062E-5 41645 0 NA
15-35083495-A-G p.Gly270Gly splice_region+synonymous ACTC1 2 81608 2.45074E-5 40804 0 NA
15-35083504-C-T c.809-8G>A splice_region ACTC1 1 80632 1.2402E-5 40316 0 7.45768E-5
15-35084301-G-A p.Pro266Pro synonymous ACTC1 1 83270 1.20091E-5 41635 0 NA
15-35084352-G-A p.Val249Val synonymous ACTC1 2 83320 2.40038E-5 41660 0 1.59065E-5
15-35084361-A-G p.Asp246Asp synonymous ACTC1 1 83340 1.1999E-5 41670 0 3.97646E-6
15-35084366-G-A p.Pro245Ser missense ACTC1 3 83342 3.59963E-5 41671 0 NA
15-35084382-C-T p.Glu239Glu synonymous ACTC1 3 83344 3.59954E-5 41672 0 9.55171E-5
15-35084434-G-T p.Ala222Asp missense ACTC1 2 83352 2.39946E-5 41676 1 NA
15-35084436-G-A p.Val221Val synonymous ACTC1 1 83348 1.19979E-5 41674 0 2.38582E-5
15-35084447-G-A p.Leu218Leu synonymous ACTC1 1 83348 1.19979E-5 41674 0 3.18104E-5
15-35084466-G-A p.Val211Val synonymous ACTC1 1 83334 1.19999E-5 41667 0 8.23845E-6
15-35084489-A-G c.617-7T>C splice_region ACTC1 3 83306 3.60118E-5 41653 0 3.97678E-5
15-35084622-G-C p.Ser201Ser synonymous ACTC1 1 83312 1.20031E-5 41656 0 NA
15-35084688-A-T p.Arg179Arg synonymous ACTC1 4 83382 4.7972E-5 41691 0 3.18654E-5
15-35084712-G-A p.Tyr171Tyr synonymous ACTC1 9 83382 1.07937E-4 41691 0 3.18634E-4
15-35084727-G-A p.Pro166Pro synonymous ACTC1 1 83390 1.19918E-5 41695 0 4.11841E-5
15-35084760-C-T p.Leu155Leu synonymous ACTC1 3 83382 3.5979E-5 41691 0 6.37105E-5
15-35084769-G-A p.Gly152Gly splice_region+synonymous ACTC1 1 83366 1.19953E-5 41683 0 1.5907E-5
15-35084773-GC-G c.455-4delG splice_region ACTC1 2 83362 2.39917E-5 41681 0 3.18512E-5
15-35084774-C-T c.455-4G>A splice_region ACTC1 1 83360 1.19962E-5 41680 0 8.24171E-6
15-35084776-C-T c.455-6G>A splice_region ACTC1 1 83360 1.19962E-5 41680 0 NA
15-35084777-G-A c.455-7C>T splice_region ACTC1 3 83356 3.59902E-5 41678 0 4.77232E-5
15-35084903-C-T n.144+6G>A splice_region ACTC1 16 76702 2.086E-4 38351 0 1.27348E-4
15-35084905-T-C n.144+4A>G splice_region ACTC1 5 76268 6.55583E-5 38134 0 NA
15-35084911-A-G n.142T>C splice_region ACTC1 2 74380 2.68889E-5 37190 0 NA
15-35085453-A-G p.Arg149Arg synonymous ACTC1 1 83230 1.20149E-5 41615 0 1.98983E-5
15-35085468-C-A p.Leu144Leu synonymous ACTC1 11 83298 1.32056E-4 41649 0 NA
15-35085480-T-G p.Ala140Ala synonymous ACTC1 2 83306 2.40079E-5 41653 0 NA
15-35085480-T-C p.Ala140Ala synonymous ACTC1 1 83306 1.20039E-5 41653 0 NA
15-35085492-C-G p.Val136Val synonymous ACTC1 1 83340 1.1999E-5 41670 0 NA
15-35085495-G-A p.Tyr135Tyr synonymous ACTC1 5 83336 5.99981E-5 41668 0 3.18512E-5
15-35085501-G-A p.Ala133Ala synonymous ACTC1 5 83346 5.99909E-5 41673 0 0.00100705
15-35085511-T-C p.Asn130Ser missense ACTC1 1 83352 1.19973E-5 41676 0 NA
15-35085531-C-T p.Gln123Gln synonymous ACTC1 2 83352 2.39946E-5 41676 0 6.5912E-5
15-35085564-C-G p.Leu112Leu synonymous ACTC1 1 83364 1.19956E-5 41682 0 NA
15-35085567-C-T p.Pro111Pro synonymous ACTC1 2 83350 2.39952E-5 41675 0 5.96516E-5
15-35085576-T-C p.Thr108Thr synonymous ACTC1 1 83352 1.19973E-5 41676 0 NA
15-35085586-G-T p.Thr105Asn missense ACTC1 1 83352 1.19973E-5 41676 0 NA
15-35085587-TG-T p.Thr105fs frameshift ACTC1 1 83344 1.19985E-5 41672 0 NA
15-35085599-C-T p.Glu101Lys missense ACTC1 2 83342 2.39975E-5 41671 0 8.2371E-6
15-35085600-G-A p.Pro100Pro synonymous ACTC1 2 83336 2.39992E-5 41668 0 3.18735E-5
15-35085626-A-C p.Phe92Val missense ACTC1 2 83310 2.40067E-5 41655 0 NA
15-35085630-G-A p.His90His synonymous ACTC1 3 83290 3.60187E-5 41645 0 0.00125
15-35085654-G-A p.Asp82Asp synonymous ACTC1 5 83266 6.00485E-5 41633 0 9.55779E-5
15-35085660-G-A p.Asn80Asn synonymous ACTC1 2 83274 2.40171E-5 41637 0 7.95286E-6
15-35085669-G-A p.Ile77Ile synonymous ACTC1 3 83256 3.60334E-5 41628 0 NA
15-35085675-A-G p.His75His synonymous ACTC1 1 83258 1.20109E-5 41629 0 3.97646E-6
15-35085681-G-A p.Ile73Ile synonymous ACTC1 23 83236 2.76323E-4 41618 0 0.00104603
15-35085696-G-A p.Thr68Thr synonymous ACTC1 1 83206 1.20184E-5 41603 0 NA
15-35085702-G-A p.Ile66Ile synonymous ACTC1 1 83232 1.20146E-5 41616 0 NA
15-35085720-G-A p.Ala60Ala synonymous ACTC1 1 83184 1.20215E-5 41592 0 8.24131E-6
15-35085720-G-T p.Ala60Ala synonymous ACTC1 2 83184 2.40431E-5 41592 0 NA
15-35085735-G-A p.Tyr55Tyr synonymous ACTC1 3 83082 3.61089E-5 41541 0 9.54654E-5
15-35085759-C-A p.Val47Val synonymous ACTC1 1 82840 1.20715E-5 41420 0 3.97937E-5
15-35085773-A-G c.130-3T>C splice_region ACTC1 1 82458 1.21274E-5 41229 0 8.58104E-6
15-35086875-G-C c.129+6C>G splice_region ACTC1 3 79596 3.76903E-5 39798 0 6.25782E-4
15-35086878-T-C c.129+3A>G splice_region ACTC1 2 79696 2.50954E-5 39848 0 9.176E-6
15-35086890-C-G p.Pro40Pro synonymous ACTC1 1 79798 1.25316E-5 39899 0 NA
15-35086902-G-A p.Ile36Ile synonymous ACTC1 3 80184 3.74139E-5 40092 0 1.2186E-5
15-35086908-C-A p.Pro34Pro synonymous ACTC1 1 80504 1.24217E-5 40252 0 NA
15-35086917-A-G p.Ala31Ala synonymous ACTC1 3 80880 3.7092E-5 40440 0 NA
15-35086953-C-CTG p.Lys20fs frameshift ACTC1 1 82342 1.21445E-5 41171 0 6.37389E-5
15-35086991-T-A p.Thr7Ser missense ACTC1 1 82706 1.2091E-5 41353 0 3.18695E-5
15-35086998-G-T p.Asp4Glu missense ACTC1 1 82688 1.20937E-5 41344 0 NA
15-35086998-G-A p.Asp4Asp synonymous ACTC1 1 82690 1.20934E-5 41345 0 8.38068E-6
15-35087034-G-A c.-22-3C>T splice_region ACTC1 1 82280 1.21536E-5 41140 0 NA
15-35087039-T-C c.-22-8A>G splice_region ACTC1 1 82152 1.21726E-5 41076 0 NA