Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-152456859-C-T c.-109C>T 5_prime_UTR_premature_start_codon_gain ACTR3B 155 21910 0.0070744 10955 2 0.0170991
7-152456889-G-T c.-79G>T 5_prime_UTR_premature_start_codon_gain ACTR3B 2 27224 7.34646E-5 13612 0 0.00218023
7-152456898-G-T c.-70G>T 5_prime_UTR_premature_start_codon_gain ACTR3B 1 28966 3.45232E-5 14483 0 NA
7-152456914-G-T c.-54G>T 5_prime_UTR_premature_start_codon_gain ACTR3B 1 31616 3.16296E-5 15808 0 3.34403E-5
7-152456982-G-A p.Leu5Leu synonymous ACTR3B 1 47786 2.09266E-5 23893 0 NA
7-152497654-G-A p.Ala47Thr missense ACTR3B 3 83328 3.60023E-5 41664 0 3.97801E-6
7-152497687-C-T p.Leu58Phe missense ACTR3B 1 83320 1.20019E-5 41660 0 NA
7-152497700-T-C p.Ile62Thr missense ACTR3B 1 83316 1.20025E-5 41658 0 NA
7-152497716-C-T c.-64C>T 5_prime_UTR_premature_start_codon_gain ACTR3B 10 83312 1.20031E-4 41656 0 6.59718E-5
7-152497716-C-G p.Ile67Met missense ACTR3B 1 83314 1.20028E-5 41657 0 NA
7-152498698-T-G c.226-8T>G splice_region ACTR3B 1 65900 1.51745E-5 32950 0 NA
7-152498742-C-G p.Leu88Val missense ACTR3B 1 67798 1.47497E-5 33899 0 NA
7-152498756-C-T p.Phe92Phe synonymous ACTR3B 2 67990 2.94161E-5 33995 0 6.1294E-5
7-152498768-G-A p.Val96Val synonymous ACTR3B 46 67256 6.83954E-4 33628 0 0.00216105
7-152498777-A-G p.Lys99Lys synonymous ACTR3B 1 67200 1.4881E-5 33600 0 NA
7-152498798-G-A p.Glu106Glu synonymous ACTR3B 1 65614 1.52407E-5 32807 0 5.62898E-6
7-152498806-A-G p.Tyr109Cys missense ACTR3B 1 64520 1.54991E-5 32260 0 NA
7-152511658-A-G p.Pro120Pro synonymous ACTR3B 2 81480 2.45459E-5 40740 0 7.964E-6
7-152511685-T-G p.Ile129Met missense ACTR3B 1 81674 1.22438E-5 40837 0 NA
7-152511691-T-C p.Phe131Phe synonymous ACTR3B 1 81694 1.22408E-5 40847 0 3.18654E-5
7-152511703-C-T p.Asn135Asn synonymous ACTR3B 3 81654 3.67404E-5 40827 0 9.95477E-5
7-152511713-C-G p.Leu139Val missense ACTR3B 1 81620 1.22519E-5 40810 0 NA
7-152511717-A-G p.Tyr140Cys missense ACTR3B 1 81600 1.22549E-5 40800 0 3.98238E-6
7-152511736-A-C c.432+6A>C splice_region ACTR3B 12 81476 1.47283E-4 40738 0 0.001875
7-152511737-C-T c.432+7C>T splice_region ACTR3B 2 81466 2.45501E-5 40733 0 3.98645E-5
7-152513582-C-T p.Ala150Val missense ACTR3B 1 77748 1.28621E-5 38874 0 NA
7-152517425-G-A p.Pro194Pro synonymous ACTR3B 1 81116 1.2328E-5 40558 0 NA
7-152517425-G-T p.Pro194Pro synonymous ACTR3B 1 81116 1.2328E-5 40558 0 4.11845E-6
7-152517428-T-A p.Ile195Ile synonymous ACTR3B 1 81102 1.23302E-5 40551 0 1.27389E-4
7-152517431-A-G p.Ala196Ala synonymous ACTR3B 1 81096 1.23311E-5 40548 0 NA
7-152517463-T-C p.Leu207Pro missense ACTR3B 1 80916 1.23585E-5 40458 0 NA
7-152517495-G-C p.Glu218Gln missense ACTR3B 1 80748 1.23842E-5 40374 0 1.29056E-5
7-152517510-A-T p.Thr223Ser missense ACTR3B 1 80704 1.2391E-5 40352 0 NA
7-152517513-G-A p.Ala224Thr missense ACTR3B 2 80680 2.47893E-5 40340 0 6.37267E-5
7-152517513-G-T p.Ala224Ser missense ACTR3B 1 80680 1.23946E-5 40340 0 NA
7-152520431-A-C p.Lys230Thr missense ACTR3B 1 82680 1.20948E-5 41340 0 NA
7-152520437-G-C p.Cys232Ser missense ACTR3B 1 82836 1.2072E-5 41418 0 3.18573E-5
7-152520441-C-T p.Tyr233Tyr synonymous ACTR3B 1 82932 1.20581E-5 41466 0 1.27413E-4
7-152520448-C-T p.Pro236Ser missense ACTR3B 1 83044 1.20418E-5 41522 0 3.97766E-6
7-152520450-C-T p.Pro236Pro synonymous ACTR3B 2 83078 2.40738E-5 41539 0 2.78423E-5
7-152520454-A-G p.Ile238Val missense ACTR3B 2 83168 2.40477E-5 41584 0 3.29728E-5
7-152520471-C-T p.Ala243Ala synonymous ACTR3B 95 83260 0.001141 41630 1 0.00394904
7-152520471-C-G p.Ala243Ala synonymous ACTR3B 1 83276 1.20083E-5 41638 0 NA
7-152520487-C-G p.Pro249Ala missense ACTR3B 1 83350 1.19976E-5 41675 0 6.25E-4
7-152520487-C-A p.Pro249Thr missense ACTR3B 1 83350 1.19976E-5 41675 0 8.23655E-6
7-152520489-C-T p.Pro249Pro synonymous ACTR3B 1 83358 1.19964E-5 41679 0 3.1837E-5
7-152520490-C-T p.Arg250Trp missense ACTR3B 7 81272 8.61305E-5 40636 0 0.075
7-152520491-G-A p.Arg250Gln missense ACTR3B 2 83362 2.39917E-5 41681 0 4.94193E-5
7-152520498-G-T p.Trp252Cys missense ACTR3B 1 83368 1.1995E-5 41684 0 NA
7-152520507-G-C p.Gln255His missense ACTR3B 1 83362 1.19959E-5 41681 0 8.23669E-6
7-152520512-C-T p.Thr257Met missense ACTR3B 10 83368 1.1995E-4 41684 0 0.00125
7-152520521-A-G p.Asn260Ser missense ACTR3B 3 83384 3.59781E-5 41692 0 1.07079E-4
7-152520524-C-T p.Ala261Val missense ACTR3B 95 83386 0.00113928 41693 0 0.00251762
7-152520547-A-G p.Ile269Val missense ACTR3B 8 83408 9.59141E-5 41704 0 3.29587E-5
7-152520552-C-T p.Asp270Asp synonymous ACTR3B 6 83408 7.19355E-5 41704 0 1.23642E-4
7-152520556-G-A p.Gly272Ser missense ACTR3B 1 83402 1.19901E-5 41701 0 NA
7-152520561-C-T p.Tyr273Tyr synonymous ACTR3B 4 83402 4.79605E-5 41701 0 6.25E-4
7-152520573-G-A p.Leu277Leu synonymous ACTR3B 2 83392 2.39831E-5 41696 0 3.18451E-5
7-152520585-A-G p.Ile281Met missense ACTR3B 2 83394 2.39825E-5 41697 0 2.47827E-5
7-152520594-C-T p.His284His synonymous ACTR3B 1 83390 1.19918E-5 41695 0 2.48324E-5
7-152520596-C-T p.Pro285Leu missense ACTR3B 2 83390 2.39837E-5 41695 0 1.19401E-5
7-152520597-G-A p.Pro285Pro synonymous ACTR3B 1 83394 1.19913E-5 41697 0 1.19394E-5
7-152522126-A-G p.Pro290Pro synonymous ACTR3B 2 81896 2.44212E-5 40948 0 3.99485E-6
7-152522129-C-G p.Asp291Glu missense ACTR3B 2 81902 2.44194E-5 40951 0 NA
7-152522161-A-G p.Glu302Gly missense ACTR3B 2 81918 2.44147E-5 40959 0 NA
7-152522177-C-T p.Cys307Cys synonymous ACTR3B 2 81914 2.44159E-5 40957 0 7.96844E-6
7-152522183-C-T p.Ile309Ile synonymous ACTR3B 69 81916 8.42326E-4 40958 0 0.00181598
7-152522188-T-G p.Val311Gly missense ACTR3B 3 81916 3.66229E-5 40958 0 8.24565E-6
7-152522197-C-T p.Pro314Leu missense ACTR3B 2 81902 2.44194E-5 40951 0 1.19601E-5
7-152522198-G-A p.Pro314Pro synonymous ACTR3B 4 81898 4.88412E-5 40949 0 6.37186E-5
7-152522212-G-A c.951+5G>A splice_region ACTR3B 2 81876 2.44272E-5 40938 1 NA
7-152549208-T-C c.952-3T>C splice_region ACTR3B 1 83360 1.19962E-5 41680 0 NA
7-152549216-C-T p.Val319Val synonymous ACTR3B 35 83372 4.19805E-4 41686 0 7.96991E-4
7-152549234-C-T p.Ser325Ser synonymous ACTR3B 1 83390 1.19918E-5 41695 0 6.37959E-5
7-152549252-C-T p.Phe331Phe synonymous ACTR3B 1 83392 1.19916E-5 41696 0 1.59074E-5
7-152549283-G-A p.Val342Met missense ACTR3B 1 83366 1.19953E-5 41683 0 NA
7-152549295-A-C p.Arg346Arg synonymous ACTR3B 21 83314 2.52058E-4 41657 0 6.37349E-4
7-152549309-C-T p.Ser350Ser synonymous ACTR3B 1 83210 1.20178E-5 41605 0 3.29832E-5
7-152549321-C-T p.Ser354Ser synonymous ACTR3B 4 83054 4.81614E-5 41527 0 4.13285E-5
7-152549324-C-T p.Gly355Gly synonymous ACTR3B 34 82994 4.09668E-4 41497 0 0.00100705
7-152549325-G-T p.Gly356Trp missense ACTR3B 1 83004 1.20476E-5 41502 0 NA
7-152549329-G-A p.Arg357Lys missense ACTR3B 1 82798 1.20776E-5 41399 0 NA
7-152549333-C-G p.Ile358Met missense ACTR3B 1 82724 1.20884E-5 41362 0 8.29573E-6
7-152549340-GGA-G c.1077+5_1077+6delGA splice_region ACTR3B 2 82566 2.4223E-5 41283 0 NA
7-152549344-C-T c.1077+8C>T splice_region ACTR3B 1 82442 1.21297E-5 41221 0 4.08924E-6
7-152550581-G-A p.Pro360Pro splice_region+synonymous ACTR3B 1 82732 1.20872E-5 41366 0 1.5946E-5
7-152550588-G-C p.Val363Leu missense ACTR3B 1 82812 1.20755E-5 41406 0 NA
7-152550590-G-A p.Val363Val synonymous ACTR3B 2 82808 2.41523E-5 41404 0 NA
7-152550599-G-A p.Gln366Gln synonymous ACTR3B 1 82836 1.2072E-5 41418 0 3.19101E-5
7-152550615-A-T p.Met372Leu missense ACTR3B 1 82846 1.20706E-5 41423 0 NA
7-152550621-C-T p.Arg374Cys missense ACTR3B 1 82782 1.20799E-5 41391 0 2.78804E-5
7-152550626-C-T p.Tyr375Tyr synonymous ACTR3B 2 82756 2.41674E-5 41378 0 6.25E-4
7-152550634-G-A p.Trp378* stop_gained ACTR3B 1 82742 1.20858E-5 41371 0 NA
7-152550638-C-T p.Phe379Phe synonymous ACTR3B 7 82698 8.46453E-5 41349 0 6.06754E-5
7-152550656-C-G p.Ala385Ala synonymous ACTR3B 7 82532 8.48156E-5 41266 0 0.00100705
7-152550659-G-A p.Ser386Ser synonymous ACTR3B 1 82458 1.21274E-5 41229 0 2.00542E-5
7-152550662-T-TCCCGAGTTCTTTCAGGTCTGCCACACCAAGAAGGACTATGAAGAGTACGG c.1161_1161+1insCCCGAGTTCTTTCAGGTCTGCCACACCAAGAAGGACTATGAAGAGTACGG splice_donor ACTR3B 2 82436 2.42612E-5 41218 1 NA
7-152551536-C-G c.1162-7C>G splice_region ACTR3B 1 82628 1.21024E-5 41314 0 NA
7-152551538-C-T c.1162-5C>T splice_region ACTR3B 4 82674 4.83828E-5 41337 0 1.5922E-5
7-152551543-C-T p.Pro388Ser missense+splice_region ACTR3B 1 82736 1.20866E-5 41368 0 3.98013E-6
7-152551545-C-T p.Pro388Pro splice_region+synonymous ACTR3B 3 82764 3.62476E-5 41382 0 6.37105E-5
7-152551571-A-G p.Lys397Arg missense ACTR3B 1 83066 1.20386E-5 41533 0 NA
7-152551590-C-T p.Tyr403Tyr synonymous ACTR3B 2 83164 2.40489E-5 41582 0 6.37227E-5
7-152551602-C-T p.Ile407Ile synonymous ACTR3B 1 83260 1.20106E-5 41630 0 1.31802E-4
7-152551613-A-G p.Asn411Ser missense ACTR3B 1 83268 1.20094E-5 41634 0 3.97655E-6
7-152551615-C-G p.Pro412Ala missense ACTR3B 15 83286 1.80102E-4 41643 0 5.18929E-4
7-152551617-C-T p.Pro412Pro synonymous ACTR3B 3 83278 3.60239E-5 41639 0 2.38597E-5
7-152551627-G-A p.Val416Ile missense ACTR3B 8 83252 9.60938E-5 41626 0 NA
7-152551630-A-G p.Met417Val missense ACTR3B 2 83232 2.40292E-5 41616 0 NA
7-152551631-T-C p.Met417Thr missense ACTR3B 1 83228 1.20152E-5 41614 0 NA
7-152551969-GGC-G c.*334_*335delGC splice_region ACTR3B 1 45786 2.18407E-5 22893 0 3.1837E-5
7-152551971-C-T c.*333C>T splice_region ACTR3B 93 45716 0.0020343 22858 2 0.003218
7-152551972-G-A c.*334G>A splice_region ACTR3B 1 45744 2.18608E-5 22872 0 NA
7-152552023-C-T c.*385C>T splice_region ACTR3B 2 44974 4.44701E-5 22487 0 NA