Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-38495822-G-C p.Ala3Ala synonymous ACVR2B 1 33506 2.98454E-5 16753 0 NA
3-38495822-G-A p.Ala3Ala synonymous ACVR2B 1 33506 2.98454E-5 16753 0 3.2569E-5
3-38495837-C-A p.Leu8Leu synonymous ACVR2B 1 33896 2.9502E-5 16948 0 7.8456E-5
3-38495841-C-T p.Leu10Phe missense ACVR2B 2 34094 5.86613E-5 17047 0 NA
3-38495846-C-G p.Leu11Leu synonymous ACVR2B 1 34008 2.94048E-5 17004 0 NA
3-38495855-GCTGTGCGCCGGTAAGAA-G p.Leu15fs frameshift ACVR2B 1 33696 2.96771E-5 16848 0 NA
3-38495856-C-T p.Leu15Leu synonymous ACVR2B 1 33746 2.96331E-5 16873 0 NA
3-38495858-G-A p.Leu15Leu synonymous ACVR2B 5 33626 1.48694E-4 16813 1 0.00471698
3-38495865-G-A p.Gly18Ser missense+splice_region ACVR2B 1 33416 2.99258E-5 16708 0 NA
3-38518787-G-A p.Arg21His missense ACVR2B 10 75774 1.31971E-4 37887 0 2.48764E-5
3-38518794-G-A p.Glu23Glu synonymous ACVR2B 1 76418 1.30859E-5 38209 0 NA
3-38518798-G-A p.Glu25Lys missense ACVR2B 1 76964 1.29931E-5 38482 0 NA
3-38518805-G-A p.Arg27Gln missense ACVR2B 1 77530 1.28982E-5 38765 0 1.59265E-5
3-38518815-C-A p.Ile30Ile synonymous ACVR2B 3 78748 3.80962E-5 39374 0 1.99013E-5
3-38518821-C-T p.Tyr32Tyr synonymous ACVR2B 1 79208 1.2625E-5 39604 0 8.26132E-6
3-38518837-C-T p.Leu38Leu synonymous ACVR2B 14 80144 1.74686E-4 40072 0 1.59398E-4
3-38518844-G-A p.Arg40His missense ACVR2B 146 80610 0.00181119 40305 2 0.00376132
3-38518851-C-G p.Asn42Lys missense ACVR2B 1 80926 1.2357E-5 40463 0 NA
3-38518857-C-T p.Ser44Ser synonymous ACVR2B 6 81132 7.39536E-5 40566 0 0.004375
3-38518872-C-T p.Cys49Cys synonymous ACVR2B 26 81754 3.18027E-4 40877 0 0.00177736
3-38518873-G-A p.Glu50Lys missense ACVR2B 2 81844 2.44367E-5 40922 0 6.76746E-5
3-38518884-G-A p.Gln53Gln synonymous ACVR2B 4 82282 4.86133E-5 41141 0 1.65404E-5
3-38518889-A-G p.Lys55Arg missense ACVR2B 6 82368 7.28438E-5 41184 0 3.18715E-5
3-38518905-C-T p.Tyr60Tyr synonymous ACVR2B 4 82676 4.83816E-5 41338 0 1.99035E-5
3-38518929-C-T p.Gly68Gly synonymous ACVR2B 3 82962 3.61611E-5 41481 0 NA
3-38518935-C-T p.Ile70Ile synonymous ACVR2B 9 82992 1.08444E-4 41496 0 2.23115E-4
3-38518962-A-G p.Leu79Leu synonymous ACVR2B 1 82936 1.20575E-5 41468 0 NA
3-38518968-C-T p.Asp81Asp synonymous ACVR2B 6 82914 7.23641E-5 41457 0 6.08082E-5
3-38518969-T-G p.Phe82Val missense ACVR2B 1 82912 1.2061E-5 41456 0 1.5966E-5
3-38518973-A-G p.Asn83Ser missense ACVR2B 3 82856 3.62074E-5 41428 0 8.81306E-6
3-38518980-C-T p.Tyr85Tyr synonymous ACVR2B 1 82802 1.2077E-5 41401 0 6.25E-4
3-38518981-G-A p.Asp86Asn missense ACVR2B 1 82782 1.20799E-5 41391 0 NA
3-38519348-C-T c.261-4C>T splice_region ACVR2B 2 83068 2.40767E-5 41534 0 NA
3-38519353-C-A p.Gln88Lys missense+splice_region ACVR2B 1 83092 1.20349E-5 41546 0 NA
3-38519356-G-C p.Glu89Gln missense ACVR2B 3 83116 3.60941E-5 41558 0 3.97706E-6
3-38519389-T-TACTTCTGCTGCTGTGAAGGCA p.Cys103_Cys109dup conservative_inframe_insertion ACVR2B 2 83132 2.40581E-5 41566 0 NA
3-38519406-A-C p.Glu105Asp missense ACVR2B 3 83106 3.60985E-5 41553 0 NA
3-38519411-A-G p.Asn107Ser missense ACVR2B 4 83060 4.8158E-5 41530 1 NA
3-38519421-C-T p.Asn110Asn synonymous ACVR2B 2 83010 2.40935E-5 41505 0 6.37471E-5
3-38519422-G-A p.Glu111Lys missense ACVR2B 2 82990 2.40993E-5 41495 0 8.25682E-6
3-38519424-A-G p.Glu111Glu synonymous ACVR2B 45715 82266 0.555697 41133 12974 0.568298
3-38519432-C-T p.Thr114Ile missense ACVR2B 11 82914 1.32668E-4 41457 0 3.18715E-5
3-38519453-G-A p.Gly121Asp missense ACVR2B 1 82686 1.20939E-5 41343 0 NA
3-38519453-G-T p.Gly121Val missense ACVR2B 1 82686 1.20939E-5 41343 0 NA
3-38519457-G-A p.Pro122Pro synonymous ACVR2B 6 82626 7.26164E-5 41313 0 9.98818E-5
3-38519465-AG-A c.370+5delG splice_region ACVR2B 5 82646 6.0499E-5 41323 0 6.37918E-5
3-38519625-C-T c.371-7C>T splice_region ACVR2B 1 82260 1.21566E-5 41130 0 NA
3-38519629-C-T c.371-3C>T splice_region ACVR2B 3 82338 3.64352E-5 41169 0 5.83294E-5
3-38519631-G-T c.371-1G>T splice_acceptor ACVR2B 2 82422 2.42654E-5 41211 0 NA
3-38519633-C-T p.Val124Val splice_region+synonymous ACVR2B 2 82456 2.42554E-5 41228 0 NA
3-38519639-C-T p.Tyr126Tyr synonymous ACVR2B 12 82618 1.45247E-4 41309 0 5.03525E-4
3-38519648-C-T p.Pro129Pro synonymous ACVR2B 2 82924 2.41185E-5 41462 0 NA
3-38519650-C-T p.Pro130Leu missense ACVR2B 6 82948 7.23345E-5 41474 0 9.57793E-5
3-38519651-G-A p.Pro130Pro synonymous ACVR2B 1 82942 1.20566E-5 41471 0 3.19448E-5
3-38519654-A-G p.Thr131Thr synonymous ACVR2B 1 82996 1.20488E-5 41498 0 8.28555E-6
3-38519657-C-A p.Ala132Ala synonymous ACVR2B 1 83004 1.20476E-5 41502 0 NA
3-38519660-C-T p.Pro133Pro synonymous ACVR2B 1 83034 1.20433E-5 41517 0 NA
3-38519663-C-T p.Thr134Thr synonymous ACVR2B 1 83044 1.20418E-5 41522 0 NA
3-38519671-C-T p.Thr137Met missense ACVR2B 8 83082 9.62904E-5 41541 0 1.27616E-4
3-38519673-G-A p.Val138Met missense ACVR2B 2 83080 2.40732E-5 41540 0 NA
3-38519674-T-C p.Val138Ala missense ACVR2B 1 83084 1.2036E-5 41542 0 NA
3-38519689-T-C p.Leu143Pro missense ACVR2B 1 83118 1.20311E-5 41559 0 NA
3-38519692-T-A p.Leu144Gln missense ACVR2B 1 83128 1.20296E-5 41564 0 NA
3-38519698-T-G p.Ile146Ser missense ACVR2B 2 83130 2.40587E-5 41565 0 7.9564E-6
3-38519699-C-T p.Ile146Ile synonymous ACVR2B 1 83132 1.20291E-5 41566 0 9.90655E-5
3-38519724-C-T p.Leu155Leu synonymous ACVR2B 2 83160 2.405E-5 41580 0 NA
3-38519725-T-G p.Leu155Arg missense ACVR2B 2 83154 2.40518E-5 41577 0 NA
3-38519742-C-T p.Arg161Trp missense ACVR2B 1 83146 1.2027E-5 41573 0 8.25341E-6
3-38519743-G-A p.Arg161Gln missense ACVR2B 6 83148 7.21605E-5 41574 0 1.81563E-4
3-38519749-G-A p.Arg163His missense ACVR2B 4 83122 4.8122E-5 41561 0 0.00100705
3-38519753-G-A p.Lys164Lys synonymous ACVR2B 2 83144 2.40547E-5 41572 0 NA
3-38519755-C-T p.Pro165Leu missense ACVR2B 2 83138 2.40564E-5 41569 0 1.65046E-5
3-38519758-C-A p.Pro166His missense ACVR2B 2 83132 2.40581E-5 41566 0 1.65052E-5
3-38519758-C-T p.Pro166Leu missense ACVR2B 1 83132 1.20291E-5 41566 0 NA
3-38519758-C-G p.Pro166Arg missense ACVR2B 1 83132 1.20291E-5 41566 0 1.59174E-5
3-38519762-C-T p.Tyr167Tyr synonymous ACVR2B 4 83114 4.81267E-5 41557 0 1.27527E-4
3-38519763-G-A p.Gly168Ser missense ACVR2B 4 83104 4.81325E-5 41552 0 8.25396E-6
3-38519768-T-C p.His169His synonymous ACVR2B 1 83118 1.20311E-5 41559 0 3.9794E-6
3-38519771-G-C p.Val170Val synonymous ACVR2B 2 83120 2.40616E-5 41560 0 8.25355E-6
3-38519859-C-T c.523-7C>T splice_region ACVR2B 1 83004 1.20476E-5 41502 0 6.37674E-5
3-38519861-C-G c.523-5C>G splice_region ACVR2B 1 83024 1.20447E-5 41512 0 NA
3-38519862-C-A c.523-4C>A splice_region ACVR2B 1 83032 1.20435E-5 41516 0 3.18776E-5
3-38519870-C-G p.Pro176Arg missense ACVR2B 9 83034 1.08389E-4 41517 0 1.9129E-4
3-38519885-C-T p.Pro181Leu missense ACVR2B 1 83078 1.20369E-5 41539 0 NA
3-38519910-A-G p.Pro189Pro synonymous ACVR2B 5 83196 6.0099E-5 41598 0 5.03525E-4
3-38519926-A-G p.Ile195Val missense ACVR2B 1 83230 1.20149E-5 41615 0 NA
3-38519927-T-G p.Ile195Ser missense ACVR2B 2 83234 2.40286E-5 41617 0 NA
3-38519928-C-G p.Ile195Met missense ACVR2B 1 83244 1.20129E-5 41622 0 NA
3-38519937-G-A p.Arg198Arg synonymous ACVR2B 3 83240 3.60404E-5 41620 0 6.37796E-5
3-38520012-G-T c.666+3G>T splice_region ACVR2B 2 83164 2.40489E-5 41582 0 8.24226E-6
3-38520014-G-A c.666+5G>A splice_region ACVR2B 289 83150 0.00347565 41575 1 0.00729857
3-38520017-TT-AG c.666+8_666+9delTTinsAG splice_region ACVR2B 9 83140 1.08251E-4 41570 0 NA
3-38520612-G-C c.667-7G>C splice_region ACVR2B 1 82898 1.2063E-5 41449 0 NA
3-38520613-C-G c.667-6C>G splice_region ACVR2B 1 82934 1.20578E-5 41467 0 NA
3-38520621-C-T p.Asp223Asp splice_region+synonymous ACVR2B 1 83024 1.20447E-5 41512 0 NA
3-38520639-T-G p.Ser229Arg missense ACVR2B 2 83096 2.40685E-5 41548 0 1.98915E-5
3-38520643-C-T p.Arg231Trp missense ACVR2B 1 83150 1.20265E-5 41575 0 7.95482E-6
3-38520654-C-T p.Phe234Phe synonymous ACVR2B 5 83204 6.00933E-5 41602 0 3.18756E-5
3-38520674-A-G p.His241Arg missense ACVR2B 1 83214 1.20172E-5 41607 0 3.9769E-6
3-38520675-C-T p.His241His synonymous ACVR2B 2 83226 2.4031E-5 41613 0 1.65049E-5
3-38520688-C-T p.Gln246* stop_gained ACVR2B 1 83234 1.20143E-5 41617 0 3.97693E-6
3-38520692-T-A p.Phe247Tyr missense ACVR2B 2 83216 2.40338E-5 41608 0 3.977E-6
3-38520696-T-C p.Ile248Ile synonymous ACVR2B 10 83218 1.20166E-4 41609 0 5.03525E-4
3-38520700-G-A p.Ala250Thr missense ACVR2B 1 83196 1.20198E-5 41598 0 NA
3-38520723-C-T p.Leu257Leu synonymous ACVR2B 5 83092 6.01743E-5 41546 0 0.001875
3-38520727-G-C p.Val259Leu missense ACVR2B 9 83084 1.08324E-4 41542 0 2.47709E-5
3-38520732-G-A p.Glu260Glu synonymous ACVR2B 1 83030 1.20438E-5 41515 0 NA
3-38520747-G-A p.Thr265Thr synonymous ACVR2B 2 82864 2.41359E-5 41432 0 NA
3-38520765-G-A c.810+3G>A splice_region ACVR2B 1 82510 1.21197E-5 41255 0 NA
3-38521166-C-T c.811-3C>T splice_region ACVR2B 7 83176 8.41589E-5 41588 0 6.36902E-5
3-38521177-C-T p.Leu273Leu synonymous ACVR2B 1 83226 1.20155E-5 41613 0 2.47109E-5
3-38521179-C-T p.Thr274Met missense ACVR2B 1 83220 1.20163E-5 41610 0 3.18431E-5
3-38521192-G-A p.Lys278Lys synonymous ACVR2B 1 83248 1.20123E-5 41624 0 NA
3-38521197-A-G p.Asn280Ser missense ACVR2B 1 83250 1.2012E-5 41625 0 3.97646E-6
3-38521204-C-T p.Ile282Ile synonymous ACVR2B 1 83238 1.20137E-5 41619 0 8.23778E-6
3-38521206-C-T p.Thr283Ile missense ACVR2B 1 83248 1.20123E-5 41624 0 NA
3-38521213-C-T p.Asn285Asn synonymous ACVR2B 1 83230 1.20149E-5 41615 0 0.00100705
3-38521214-G-C p.Glu286Gln missense ACVR2B 2 83226 2.4031E-5 41613 0 3.97636E-6
3-38521226-G-A p.Val290Ile missense ACVR2B 1 83238 1.20137E-5 41619 0 NA
3-38521231-A-G p.Ala291Ala synonymous ACVR2B 1 83240 1.20135E-5 41620 0 3.97636E-6
3-38521237-G-A p.Thr293Thr synonymous ACVR2B 2 83236 2.40281E-5 41618 0 8.24198E-6
3-38521244-C-T p.Arg296* stop_gained ACVR2B 1 83214 1.20172E-5 41607 0 3.97671E-6
3-38521252-C-T p.Leu298Leu synonymous ACVR2B 2 83214 2.40344E-5 41607 0 8.24797E-6
3-38521283-C-T p.Arg309Cys missense ACVR2B 2 82902 2.41249E-5 41451 0 3.18492E-5
3-38521284-G-A p.Arg309His missense ACVR2B 8 82892 9.65111E-5 41446 0 6.3674E-5
3-38521288-C-T p.Gly310Gly synonymous ACVR2B 4 82778 4.8322E-5 41389 0 3.32635E-5
3-38522863-A-G p.Val327Val synonymous ACVR2B 1 83234 1.20143E-5 41617 0 3.97712E-6
3-38522875-C-T p.Ser331Ser synonymous ACVR2B 287 83236 0.00344803 41618 1 0.00729439
3-38522887-C-T p.Ala335Ala synonymous ACVR2B 1 83268 1.20094E-5 41634 0 3.18512E-5
3-38522897-G-A p.Asp339Asn missense ACVR2B 1 83284 1.20071E-5 41642 0 NA
3-38522915-C-A p.Arg345Arg synonymous ACVR2B 1 83228 1.20152E-5 41614 0 NA
3-38522923-G-C p.Glu347Asp missense ACVR2B 4 83226 4.80619E-5 41613 0 8.23696E-6
3-38522923-G-A p.Glu347Glu synonymous ACVR2B 1 83226 1.20155E-5 41613 0 9.55536E-5
3-38522934-C-T p.Pro351Leu missense ACVR2B 1 83214 1.20172E-5 41607 0 NA
3-38522936-C-G p.Pro352Ala missense ACVR2B 3 83212 3.60525E-5 41606 0 3.18593E-5
3-38522950-C-T p.His356His synonymous ACVR2B 3 83108 3.60976E-5 41554 0 9.06245E-5
3-38522951-G-A p.Gly357Arg missense ACVR2B 1 83102 1.20334E-5 41551 0 NA
3-38523684-C-T c.1075-5C>T splice_region ACVR2B 818 82728 0.00988782 41364 3 0.011875
3-38523697-G-A p.Thr361Thr synonymous ACVR2B 1 82936 1.20575E-5 41468 0 NA
3-38523724-C-T p.Leu370Leu synonymous ACVR2B 1 83054 1.20404E-5 41527 0 1.98908E-5
3-38523738-A-G p.Asn375Ser missense ACVR2B 1 83142 1.20276E-5 41571 0 NA
3-38523742-C-T p.Phe376Phe synonymous ACVR2B 1 83134 1.20288E-5 41567 0 8.262E-6
3-38523754-C-T p.Ala380Ala synonymous ACVR2B 22 83134 2.64633E-4 41567 0 7.66528E-4
3-38523765-T-C p.Ile384Thr missense ACVR2B 3 83118 3.60933E-5 41559 0 7.95957E-6
3-38523779-A-T p.Met389Leu missense ACVR2B 3 83094 3.61037E-5 41547 0 3.98121E-6
3-38523802-T-G p.Leu396Leu synonymous ACVR2B 1 83080 1.20366E-5 41540 0 NA
3-38523803-G-C p.Val397Leu missense ACVR2B 25 83076 3.00929E-4 41538 0 1.19524E-4
3-38523805-G-C p.Val397Val synonymous ACVR2B 1 83068 1.20383E-5 41534 0 8.32085E-6
3-38523810-G-A p.Arg399His missense ACVR2B 1 83052 1.20406E-5 41526 0 NA
3-38523816-A-T p.Lys401Met missense ACVR2B 4 83080 4.81464E-5 41540 0 0.00100705
3-38523816-A-G p.Lys401Arg missense ACVR2B 2 83080 2.40732E-5 41540 0 NA
3-38523817-G-A p.Lys401Lys synonymous ACVR2B 1 83086 1.20357E-5 41543 0 3.21234E-5
3-38523826-C-T p.Asp404Asp splice_region+synonymous ACVR2B 3 83058 3.61193E-5 41529 0 1.66937E-5
3-38523827-G-A p.Gly405Arg missense+splice_region ACVR2B 1 83052 1.20406E-5 41526 0 3.21916E-5
3-38523835-G-C c.1213+8G>C splice_region ACVR2B 2 83044 2.40836E-5 41522 0 3.98778E-6
3-38523922-A-G p.Gly405Gly splice_region+synonymous ACVR2B 1 83180 1.20221E-5 41590 0 6.25E-4
3-38523925-C-A p.Pro406Pro synonymous ACVR2B 6 83176 7.21362E-5 41588 0 2.5121E-5
3-38523926-G-T p.Val407Leu missense ACVR2B 13 83182 1.56284E-4 41591 0 6.25E-4
3-38523926-G-A p.Val407Met missense ACVR2B 9 83182 1.08196E-4 41591 0 1.60617E-4
3-38523961-T-C p.Ile418Ile synonymous ACVR2B 1 83172 1.20233E-5 41586 0 8.49156E-6
3-38523968-C-T p.His421Tyr missense ACVR2B 1 83148 1.20267E-5 41574 0 1.71101E-5
3-38523976-G-A p.Ser423Ser synonymous ACVR2B 21 83134 2.52604E-4 41567 0 5.03525E-4
3-38523994-G-A p.Glu429Glu synonymous ACVR2B 1 83068 1.20383E-5 41534 0 4.40606E-5
3-38523995-G-A p.Val430Met missense ACVR2B 1 83058 1.20398E-5 41529 0 7.99252E-6
3-38524050-C-T p.Pro448Leu missense+splice_region ACVR2B 3 82442 3.63892E-5 41221 0 9.57121E-5
3-38524057-G-C c.1344+6G>C splice_region ACVR2B 1 82362 1.21415E-5 41181 0 9.8742E-6
3-38524058-G-T c.1344+7G>T splice_region ACVR2B 543 82338 0.00659477 41169 7 0.0117771
3-38524636-C-T p.Ala451Val missense ACVR2B 1 83310 1.20034E-5 41655 0 1.98959E-5
3-38524655-C-T p.Ile457Ile synonymous ACVR2B 1 83300 1.20048E-5 41650 0 6.37146E-5
3-38524694-C-T p.Ser470Ser synonymous ACVR2B 37 83232 4.44541E-4 41616 0 2.78361E-4
3-38524697-G-A p.Ala471Ala synonymous ACVR2B 1 83256 1.20111E-5 41628 0 9.56816E-5
3-38524698-G-A p.Gly472Ser missense ACVR2B 1 83264 1.201E-5 41632 0 3.18796E-5
3-38524699-G-A p.Gly472Asp missense ACVR2B 3 83262 3.60308E-5 41631 0 3.97636E-6
3-38524707-G-A p.Glu475Lys missense ACVR2B 2 83280 2.40154E-5 41640 0 3.9763E-6
3-38524713-C-CG p.Val478fs frameshift ACVR2B 1 83268 1.20094E-5 41634 0 NA
3-38524728-C-T p.Arg482Trp missense ACVR2B 70 83334 8.39993E-4 41667 0 5.44758E-4
3-38524729-G-A p.Arg482Gln missense ACVR2B 1 83338 1.19993E-5 41669 0 1.19287E-5
3-38524735-C-T p.Ser484Leu missense ACVR2B 1 83334 1.19999E-5 41667 0 3.19081E-5
3-38524736-G-A p.Ser484Ser synonymous ACVR2B 13 83346 1.55976E-4 41673 0 6.25E-4
3-38524742-C-T p.Asn486Asn synonymous ACVR2B 39711 83028 0.478284 41514 10116 0.5025
3-38524742-CGG-TGA p.AsnGly486AsnAsp missense ACVR2B 1 83356 1.19967E-5 41678 0 NA
3-38524743-G-A p.Gly487Ser missense ACVR2B 1 83356 1.19967E-5 41678 0 NA
3-38524751-C-G p.Thr489Thr synonymous ACVR2B 2 83370 2.39894E-5 41685 0 3.9763E-6
3-38524752-T-A p.Ser490Thr missense ACVR2B 2 83374 2.39883E-5 41687 0 NA
3-38524753-C-T p.Ser490Leu missense ACVR2B 10 83380 1.19933E-4 41690 0 1.31785E-4
3-38524753-C-G p.Ser490Trp missense ACVR2B 1 83380 1.19933E-5 41690 0 0.006875
3-38524754-G-A p.Ser490Ser synonymous ACVR2B 11 83368 1.31945E-4 41684 0 4.11834E-5
3-38524754-G-T p.Ser490Ser synonymous ACVR2B 1 83368 1.1995E-5 41684 0 3.29468E-5
3-38524761-C-T p.Leu493Phe missense ACVR2B 36 83382 4.31748E-4 41691 0 3.19101E-4
3-38524763-C-T p.Leu493Leu synonymous ACVR2B 1 83372 1.19944E-5 41686 0 3.18878E-5
3-38524764-G-A p.Val494Ile missense ACVR2B 4 83366 4.79812E-5 41683 0 2.47097E-5
3-38524797-C-T p.Leu505Leu synonymous ACVR2B 1 83360 1.19962E-5 41680 0 NA
3-38524804-C-T p.Pro507Leu missense ACVR2B 1 83342 1.19988E-5 41671 0 NA
3-38524806-A-G p.Lys508Glu missense ACVR2B 1 83338 1.19993E-5 41669 0 NA
3-38524810-A-G p.Glu509Gly missense ACVR2B 2 83338 2.39987E-5 41669 0 7.95254E-6
3-38524814-A-G p.Ser510Ser synonymous ACVR2B 2 83334 2.39998E-5 41667 0 1.19291E-5
3-38524818-A-G p.Ile512Val missense ACVR2B 1 83324 1.20013E-5 41662 0 NA