Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-52345525-A-G c.-3A>G 5_prime_UTR_premature_start_codon_gain ACVR1B 3 63220 4.74533E-5 31610 0 6.5445E-4
12-52345528-A-G p.Met1? start_lost ACVR1B 2 63850 3.13234E-5 31925 0 NA
12-52345538-C-G p.Ser4Trp missense ACVR1B 3 64744 4.63363E-5 32372 0 NA
12-52345539-G-A p.Ser4Ser synonymous ACVR1B 1 64682 1.54603E-5 32341 0 6.92617E-5
12-52345546-G-A p.Ala7Thr missense ACVR1B 1 65558 1.52537E-5 32779 0 3.38914E-5
12-52345549-T-G p.Ser8Ala missense ACVR1B 3 65788 4.5601E-5 32894 0 6.52742E-4
12-52345554-C-T p.Ser9Ser synonymous ACVR1B 2 66226 3.01996E-5 33113 0 1.66778E-4
12-52345572-C-T p.Val15Val synonymous ACVR1B 1 66286 1.50861E-5 33143 0 NA
12-52345573-C-T p.Leu16Phe missense ACVR1B 3 66254 4.52803E-5 33127 0 NA
12-52345599-C-G p.Ser24Ser synonymous ACVR1B 2 58802 3.40124E-5 29401 0 6.79486E-5
12-52345603-C-T p.Pro26Ser missense ACVR1B 1 58202 1.71815E-5 29101 0 NA
12-52345606-C-CG p.Val29fs frameshift ACVR1B 1 58130 1.72028E-5 29065 0 NA
12-52345606-CG-C p.Val29fs frameshift ACVR1B 1 58122 1.72052E-5 29061 0 1.6154E-5
12-52345618-G-GCTCTGCTGTGTGCGTGCACCAGCTGCCTCCAGGCCAACTACACGT c.91_91+1insCTCTGCTGTGTGCGTGCACCAGCTGCCTCCAGGCCAACTACACGT splice_donor ACVR1B 7 57782 1.21145E-4 28891 3 NA
12-52369061-C-T p.Ala35Val missense ACVR1B 1 83124 1.20302E-5 41562 0 3.1841E-5
12-52369062-G-A c.-52G>A 5_prime_UTR_premature_start_codon_gain ACVR1B 5 83112 6.01598E-5 41556 0 1.28065E-4
12-52369064-G-C p.Cys36Ser missense ACVR1B 1 83116 1.20314E-5 41558 0 NA
12-52369080-G-A p.Gln41Gln synonymous ACVR1B 231 83128 0.00277885 41564 1 0.00369333
12-52369089-C-T p.Tyr44Tyr synonymous ACVR1B 1 83124 1.20302E-5 41562 0 5.03525E-4
12-52369091-C-T p.Thr45Met missense ACVR1B 1 83124 1.20302E-5 41562 0 8.24565E-6
12-52369110-C-T c.-4C>T 5_prime_UTR_premature_start_codon_gain ACVR1B 6 83126 7.21796E-5 41563 0 2.54777E-4
12-52369113-C-T p.Cys52Cys synonymous ACVR1B 2 83140 2.40558E-5 41570 0 3.97953E-6
12-52369114-A-G p.Met1? start_lost ACVR1B 2 83142 2.40552E-5 41571 0 8.24035E-6
12-52369134-G-A p.Leu59Leu synonymous ACVR1B 1 83122 1.20305E-5 41561 0 3.18532E-5
12-52369136-A-G p.Asp60Gly missense ACVR1B 1 83122 1.20305E-5 41561 0 3.97845E-6
12-52369144-G-A p.Glu63Lys missense ACVR1B 1 83090 1.20351E-5 41545 0 NA
12-52369164-C-T p.Cys69Cys synonymous ACVR1B 1 82994 1.20491E-5 41497 0 NA
12-52369183-G-A p.Val76Ile missense ACVR1B 1 82812 1.20755E-5 41406 0 NA
12-52369191-C-T p.Ala78Ala synonymous ACVR1B 17 82726 2.05498E-4 41363 0 7.00815E-4
12-52369200-C-T p.Pro81Pro synonymous ACVR1B 1 82668 1.20966E-5 41334 0 NA
12-52369210-C-T p.Leu85Leu synonymous ACVR1B 1 82610 1.21051E-5 41305 0 3.98118E-6
12-52369228-C-T p.Arg91Cys missense ACVR1B 1 82458 1.21274E-5 41229 0 1.59304E-5
12-52369248-C-T p.Tyr97Tyr synonymous ACVR1B 2 82366 2.42819E-5 41183 0 NA
12-52369269-C-T p.Ile104Ile synonymous ACVR1B 4 82098 4.87223E-5 41049 0 2.7922E-5
12-52369279-G-A p.Val108Met missense ACVR1B 1 81878 1.22133E-5 40939 0 3.99508E-6
12-52369281-G-T p.Val108Val synonymous ACVR1B 2 81784 2.44547E-5 40892 0 8.27253E-6
12-52369290-T-TCACCTCAAG c.331+2_331+3insCACCTCAAG splice_region ACVR1B 1 81548 1.22627E-5 40774 0 NA
12-52370105-A-T c.332-6A>T splice_region ACVR1B 3 83246 3.60378E-5 41623 0 6.38855E-5
12-52370118-C-G p.Leu113Leu synonymous ACVR1B 1 83302 1.20045E-5 41651 0 NA
12-52370133-C-T p.His118His synonymous ACVR1B 1 83328 1.20008E-5 41664 0 NA
12-52370135-C-T p.Pro119Leu missense ACVR1B 2 83332 2.40004E-5 41666 0 3.18492E-5
12-52370141-T-C p.Met121Thr missense ACVR1B 1 83344 1.19985E-5 41672 0 3.18471E-5
12-52370146-G-T p.Gly71Cys missense+splice_region ACVR1B 1 83340 1.1999E-5 41670 0 NA
12-52370150-C-T p.Pro124Leu missense ACVR1B 2 83348 2.39958E-5 41674 0 1.64753E-5
12-52370151-G-A p.Pro124Pro synonymous ACVR1B 3 83352 3.59919E-5 41676 0 9.0614E-5
12-52370169-C-T p.Ile130Ile synonymous ACVR1B 1 83362 1.19959E-5 41681 0 NA
12-52370172-C-T p.Ile131Ile synonymous ACVR1B 2 83366 2.39906E-5 41683 0 NA
12-52370175-C-T p.Ala132Ala synonymous ACVR1B 7 83366 8.39671E-5 41683 0 5.76568E-5
12-52370181-G-A p.Pro134Pro synonymous ACVR1B 226 83370 0.00271081 41685 4 0.00487292
12-52370200-A-C p.Ile141Leu missense ACVR1B 6 83378 7.19614E-5 41689 0 2.38584E-5
12-52370208-CATT-C p.Ile144del conservative_inframe_deletion ACVR1B 2 83390 2.39837E-5 41695 0 5.96455E-5
12-52370210-T-C p.Ile144Thr missense ACVR1B 1 83386 1.19924E-5 41693 0 2.3858E-5
12-52370220-T-C p.Leu147Leu synonymous ACVR1B 1 83392 1.19916E-5 41696 0 9.55901E-5
12-52370224-A-G p.Ile149Val missense ACVR1B 1 83398 1.19907E-5 41699 0 NA
12-52370229-C-T p.Asn150Asn synonymous ACVR1B 1 83404 1.19898E-5 41702 0 NA
12-52370235-T-C p.His152His synonymous ACVR1B 4 83404 4.79593E-5 41702 0 4.11821E-5
12-52370240-G-A p.Arg154His missense ACVR1B 1 83400 1.19904E-5 41700 0 3.97716E-6
12-52370246-A-G p.Tyr156Cys missense ACVR1B 2 83390 2.39837E-5 41695 0 2.78388E-5
12-52370298-C-T p.Leu173Leu synonymous ACVR1B 2 83340 2.39981E-5 41670 0 NA
12-52370301-C-CAA p.Asp176fs frameshift ACVR1B 1 83338 1.19993E-5 41669 0 NA
12-52370313-G-A p.Thr178Thr synonymous ACVR1B 33 83308 3.9612E-4 41654 1 0.00221123
12-52370315-T-C p.Leu179Pro missense ACVR1B 1 83306 1.20039E-5 41653 0 NA
12-52370331-C-T p.Tyr184Tyr synonymous ACVR1B 4 83272 4.80354E-5 41636 0 3.18218E-5
12-52370332-G-A p.Asp185Asn missense ACVR1B 1 83266 1.20097E-5 41633 0 1.64737E-5
12-52370342-C-T p.Thr188Ile missense ACVR1B 1 83196 1.20198E-5 41598 0 NA
12-52370348-G-A p.Gly190Glu missense ACVR1B 2 83146 2.40541E-5 41573 0 1.64764E-5
12-52370349-G-A p.Gly190Gly synonymous ACVR1B 2 83122 2.4061E-5 41561 0 NA
12-52370365-A-G c.580+6A>G splice_region ACVR1B 1 82802 1.2077E-5 41401 0 NA
12-52370367-G-A c.580+8G>A splice_region ACVR1B 5 82736 6.04332E-5 41368 0 1.64848E-5
12-52374754-G-A p.Gly194Gly splice_region+synonymous ACVR1B 2 83206 2.40367E-5 41603 0 NA
12-52374766-T-C p.Phe198Phe synonymous ACVR1B 1 83174 1.2023E-5 41587 0 NA
12-52374773-C-T p.Arg201Cys missense ACVR1B 1 83160 1.2025E-5 41580 0 8.50037E-6
12-52374799-A-G p.Leu209Leu synonymous ACVR1B 1 83354 1.1997E-5 41677 0 NA
12-52374840-G-A p.Arg223Gln missense ACVR1B 2 83380 2.39866E-5 41690 0 3.9808E-6
12-52374847-C-G p.Arg225Arg synonymous ACVR1B 5 83292 6.00298E-5 41646 0 NA
12-52374859-T-C p.Gly229Gly synonymous ACVR1B 7 83304 8.40296E-5 41652 0 2.50279E-5
12-52374895-A-T p.Glu241Asp missense ACVR1B 2 83378 2.39871E-5 41689 0 NA
12-52374923-T-C p.Tyr251His missense ACVR1B 2 83378 2.39871E-5 41689 0 NA
12-52376480-A-C p.Ser274Ser synonymous ACVR1B 1 76490 1.30736E-5 38245 0 NA
12-52376480-A-AT p.Leu276fs frameshift ACVR1B 1 76490 1.30736E-5 38245 0 NA
12-52376484-C-T p.Leu276Phe missense ACVR1B 3 76504 3.92136E-5 38252 0 3.82199E-5
12-52376489-A-G p.Thr277Thr synonymous ACVR1B 1 76514 1.30695E-5 38257 0 7.61638E-6
12-52376514-T-C p.Ser286Pro missense ACVR1B 1 76532 1.30664E-5 38266 0 NA
12-52376518-C-G p.Ala287Gly missense ACVR1B 4 76538 5.22616E-5 38269 0 8.30979E-5
12-52376520-G-GC p.Lys290fs frameshift ACVR1B 1 76538 1.30654E-5 38269 0 NA
12-52376520-G-GCC p.Lys290fs frameshift ACVR1B 1 76538 1.30654E-5 38269 0 NA
12-52376522-C-T p.Ala288Ala synonymous ACVR1B 1 76530 1.30668E-5 38265 0 1.50471E-5
12-52376523-C-T p.Pro289Ser missense ACVR1B 4 76530 5.22671E-5 38265 0 2.33216E-4
12-52376524-C-G p.Pro289Arg missense ACVR1B 1 76532 1.30664E-5 38266 0 7.51925E-6
12-52376529-C-T p.Leu291Leu synonymous ACVR1B 1 76538 1.30654E-5 38269 0 NA
12-52376536-G-T p.Ser293Ile missense ACVR1B 2 76538 2.61308E-5 38269 0 NA
12-52376537-C-G p.Ser293Arg missense ACVR1B 3 76536 3.91972E-5 38268 0 1.27348E-4
12-52376556-G-A p.Gly300Arg missense ACVR1B 3 76502 3.92147E-5 38251 0 1.7094E-4
12-52376571-G-A p.Ala305Thr missense ACVR1B 1 76434 1.30832E-5 38217 0 3.97905E-5
12-52376573-A-G p.Ala305Ala synonymous ACVR1B 1 76430 1.30839E-5 38215 0 NA
12-52376585-C-A p.Phe309Leu missense ACVR1B 1 76372 1.30938E-5 38186 0 NA
12-52376598-CT-C c.934+7delT splice_region ACVR1B 1 76322 1.31024E-5 38161 0 NA
12-52377777-C-G c.812-6C>G splice_region ACVR1B 2 83206 2.40367E-5 41603 0 3.18431E-5
12-52377779-G-A c.812-4G>A splice_region ACVR1B 1 83238 1.20137E-5 41619 0 8.27582E-6
12-52377780-C-T c.812-3C>T splice_region ACVR1B 2 83240 2.40269E-5 41620 0 3.18451E-5
12-52377790-C-T p.Gly273Gly synonymous ACVR1B 1 83264 1.201E-5 41632 0 3.97896E-6
12-52377832-C-T p.His287His synonymous ACVR1B 6 83296 7.20323E-5 41648 0 1.815E-4
12-52377857-C-T p.Arg296Trp missense ACVR1B 1 83290 1.20062E-5 41645 0 1.64924E-5
12-52377863-A-C p.Thr298Pro missense ACVR1B 1 83290 1.20062E-5 41645 0 NA
12-52377889-G-A p.Lys306Lys synonymous ACVR1B 1 83270 1.20091E-5 41635 0 NA
12-52377903-C-T p.Ala311Val missense ACVR1B 1 83232 1.20146E-5 41616 0 3.18471E-5
12-52377937-C-T p.Ile322Ile synonymous ACVR1B 3 83076 3.61115E-5 41538 0 6.25E-4
12-52377940-G-A p.Val323Val synonymous ACVR1B 1 83048 1.20412E-5 41524 0 9.55475E-5
12-52377946-C-T p.Thr325Thr synonymous ACVR1B 1 82998 1.20485E-5 41499 0 NA
12-52377951-G-GGAAGCCTGGAATTGCTCATCGAGACTTAAAGTCAAAGAACA c.979+1_979+2insGAAGCCTGGAATTGCTCATCGAGACTTAAAGTCAAAGAACA splice_donor ACVR1B 1 82978 1.20514E-5 41489 0 NA
12-52377951-G-GGAAGCCTGGAATTGCTCATCGAGACTTAAAGTCAAAGAACATTC c.979+1_979+2insGAAGCCTGGAATTGCTCATCGAGACTTAAAGTCAAAGAACATTC splice_donor ACVR1B 1 82978 1.20514E-5 41489 0 NA
12-52378973-C-T c.980-3C>T splice_region ACVR1B 1 83150 1.20265E-5 41575 0 NA
12-52378980-G-A p.Lys328Lys synonymous ACVR1B 1 83208 1.20181E-5 41604 0 8.66536E-6
12-52379010-A-G p.Ser338Ser synonymous ACVR1B 1 83326 1.20011E-5 41663 0 3.99543E-6
12-52379038-A-G p.Met348Val missense ACVR1B 1 83340 1.1999E-5 41670 0 3.98305E-6
12-52379039-T-C p.Met348Thr missense ACVR1B 1 83350 1.19976E-5 41675 0 3.1841E-5
12-52379045-C-G p.Ala350Gly missense ACVR1B 1 83358 1.19964E-5 41679 0 NA
12-52379054-A-T p.Asp353Val missense ACVR1B 1 83372 1.19944E-5 41686 0 NA
12-52379064-G-A p.Leu356Leu synonymous ACVR1B 1 83370 1.19947E-5 41685 0 3.98337E-6
12-52379071-C-T p.Arg359Cys missense ACVR1B 6 83364 7.19735E-5 41682 0 7.17394E-5
12-52379085-C-G p.Val363Val synonymous ACVR1B 1 83368 1.1995E-5 41684 0 8.25069E-6
12-52379124-G-A p.Gly376Gly synonymous ACVR1B 1 83302 1.20045E-5 41651 0 NA
12-52379132-G-GATACATGGCCCCTGAA c.1136_1136+1insATACATGGCCCCTGAA splice_donor ACVR1B 2 83248 2.40246E-5 41624 0 NA
12-52379132-G-C p.Arg379Pro missense+splice_region ACVR1B 1 83250 1.2012E-5 41625 0 NA
12-52379133-G-GAGTCCATGAAGAA c.1136+1_1136+2insAGTCCATGAAGAA splice_donor ACVR1B 1 83226 1.20155E-5 41613 0 NA
12-52379139-G-C c.1136+7G>C splice_region ACVR1B 1 83188 1.2021E-5 41594 0 8.41383E-6
12-52380611-C-A p.Ala382Ala synonymous ACVR1B 1 83108 1.20325E-5 41554 0 3.98769E-6
12-52380620-A-G p.Val385Val synonymous ACVR1B 1 83154 1.20259E-5 41577 0 7.96533E-5
12-52380640-T-C p.Met392Thr missense ACVR1B 1 83272 1.20088E-5 41636 0 1.15376E-4
12-52380644-A-G p.Lys393Lys synonymous ACVR1B 1 83292 1.2006E-5 41646 0 3.97839E-6
12-52380653-C-T p.Asp396Asp synonymous ACVR1B 1 83300 1.20048E-5 41650 0 NA
12-52380665-T-C p.Cys400Cys synonymous ACVR1B 1 83332 1.20002E-5 41666 0 NA
12-52380683-C-T p.Leu406Leu synonymous ACVR1B 5 83348 5.99894E-5 41674 0 6.3674E-5
12-52380684-G-A p.Gly407Arg missense ACVR1B 1 83352 1.19973E-5 41676 0 NA
12-52380692-A-G p.Val409Val synonymous ACVR1B 6 83356 7.19804E-5 41678 0 5.03525E-4
12-52380695-T-C p.Tyr410Tyr synonymous ACVR1B 1 83366 1.19953E-5 41683 0 3.1835E-5
12-52380708-C-G p.Arg415Gly missense ACVR1B 1 83372 1.19944E-5 41686 0 9.55231E-5
12-52380727-G-GAGTCCATGAAGAATATCAGCTGCCATA c.1261+1_1261+2insAGTCCATGAAGAATATCAGCTGCCATA splice_donor ACVR1B 1 83386 1.19924E-5 41693 0 NA
12-52380737-T-G p.Leu424Leu synonymous ACVR1B 2 83370 2.39894E-5 41685 0 8.2371E-6
12-52380756-C-T p.Leu431Phe missense ACVR1B 1 83358 1.19964E-5 41679 0 1.59062E-5
12-52380767-G-A p.Gln434Gln synonymous ACVR1B 2 83360 2.39923E-5 41680 0 NA
12-52380768-G-C p.Asp435His missense ACVR1B 1 83358 1.19964E-5 41679 0 NA
12-52380784-A-C p.Lys440Thr missense ACVR1B 1 83348 1.19979E-5 41674 0 NA
12-52380787-C-T p.Ala441Val missense ACVR1B 2 83342 2.39975E-5 41671 0 NA
12-52380798-C-T p.Pro445Ser missense ACVR1B 2 83290 2.40125E-5 41645 0 7.96375E-6
12-52380799-C-G p.Pro445Arg missense ACVR1B 1 83296 1.20054E-5 41648 0 3.18471E-5
12-52380802-CTT-C p.Phe447fs frameshift ACVR1B 5 83298 6.00254E-5 41649 0 1.59365E-5
12-52380802-C-CT p.Phe448fs frameshift ACVR1B 1 83300 1.20048E-5 41650 0 1.59266E-4
12-52380820-T-C p.Val452Ala missense ACVR1B 1 83204 1.20187E-5 41602 0 NA
12-52380837-G-A p.Glu458Lys missense ACVR1B 1 83046 1.20415E-5 41523 0 NA
12-52380843-G-C p.Glu460Gln missense ACVR1B 2 82968 2.41057E-5 41484 0 1.25392E-5
12-52380847-C-T p.Ser461Leu missense ACVR1B 7 82922 8.44167E-5 41461 0 6.36821E-5
12-52380850-C-T p.Ser462Leu missense ACVR1B 1 82862 1.20683E-5 41431 0 4.05592E-5
12-52380851-G-A p.Ser462Ser synonymous ACVR1B 6 82828 7.24393E-5 41414 0 3.47551E-5
12-52380864-A-G p.Ile467Val missense ACVR1B 1 82586 1.21086E-5 41293 0 1.58383E-5
12-52380866-C-A p.Ile467Ile synonymous ACVR1B 3 82520 3.63548E-5 41260 0 1.63175E-5
12-52380873-G-A p.Val470Met missense ACVR1B 1 82364 1.21412E-5 41182 0 NA
12-52380879-G-A p.Val472Ile missense ACVR1B 1 82142 1.2174E-5 41071 0 1.0173E-5
12-52380891-AG-A p.Val477fs frameshift ACVR1B 1 81318 1.22974E-5 40659 0 NA
12-52380893-G-A p.Arg476Arg synonymous ACVR1B 2 81112 2.46573E-5 40556 0 6.00709E-5
12-52380898-G-A p.Arg478His missense ACVR1B 1224 80558 0.015194 40279 29 0.0338557
12-52380902-ATTC-A p.Phe481del conservative_inframe_deletion ACVR1B 1 80440 1.24316E-5 40220 0 6.02177E-6
12-52380926-A-C p.Glu487Asp missense ACVR1B 21 77364 2.71444E-4 38682 0 5.73212E-4
12-52385657-A-G p.Glu424Glu synonymous ACVR1B 1 83400 1.19904E-5 41700 0 1.99652E-5
12-52385678-C-T p.Tyr431Tyr synonymous ACVR1B 14 83420 1.67825E-4 41710 0 1.64794E-4
12-52385696-C-T p.Asp437Asp synonymous ACVR1B 22 83426 2.63707E-4 41713 0 0.00100705
12-52385697-C-G p.Pro438Ala missense ACVR1B 1 83424 1.1987E-5 41712 0 NA
12-52385708-G-C p.Glu441Asp missense ACVR1B 6 83430 7.19166E-5 41715 0 NA
12-52385739-C-T p.Leu452Leu synonymous ACVR1B 1 83420 1.19875E-5 41710 0 NA
12-52385749-A-T p.Asn455Ile missense ACVR1B 2 83422 2.39745E-5 41711 0 1.19289E-5
12-52385751-A-G p.Ile456Val missense ACVR1B 22 83424 2.63713E-4 41712 0 4.14065E-4
12-52385774-T-C n.417T>C splice_region ACVR1B 1 83418 1.19878E-5 41709 0 1.19295E-5
12-52385790-C-T p.Pro469Ser missense ACVR1B 1 83400 1.19904E-5 41700 0 NA
12-52385791-C-T p.Pro469Leu missense ACVR1B 2 83398 2.39814E-5 41699 0 1.64829E-5
12-52385793-C-T p.Pro470Ser missense ACVR1B 6 83398 7.19442E-5 41699 0 1.1539E-4
12-52385794-C-T p.Pro470Leu missense ACVR1B 1 83396 1.1991E-5 41698 0 3.97728E-6
12-52385797-C-T p.Ala471Val missense ACVR1B 9 83388 1.07929E-4 41694 0 9.54624E-5
12-52385807-A-G p.Pro474Pro synonymous ACVR1B 1 83380 1.19933E-5 41690 0 3.3071E-5
12-52385812-C-T p.Ala476Val missense ACVR1B 1 83368 1.1995E-5 41684 0 3.1839E-5
12-52387763-G-A c.1393-6G>A splice_region ACVR1B 1 82544 1.21148E-5 41272 0 3.20971E-5
12-52387764-C-T c.1393-5C>T splice_region ACVR1B 2 82552 2.42272E-5 41276 0 4.01171E-6
12-52387780-G-A p.Val468Val synonymous ACVR1B 1 82786 1.20793E-5 41393 0 NA
12-52387801-G-A p.Glu475Glu synonymous ACVR1B 2 83146 2.40541E-5 41573 0 NA
12-52387816-C-T p.Asn480Asn synonymous ACVR1B 4 83190 4.80827E-5 41595 0 7.57051E-5
12-52387817-G-A p.Gly481Ser missense ACVR1B 2 83174 2.4046E-5 41587 0 3.18735E-5
12-52387819-C-T p.Gly481Gly synonymous ACVR1B 4 83152 4.81047E-5 41576 0 3.29674E-5
12-52387824-C-T p.Ala483Val missense ACVR1B 1 83176 1.20227E-5 41588 0 NA
12-52387833-C-A p.Thr486Lys missense ACVR1B 1 83204 1.20187E-5 41602 0 NA
12-52387834-G-A p.Thr486Thr synonymous ACVR1B 1 83204 1.20187E-5 41602 0 3.98089E-6
12-52387846-C-T p.Ile490Ile synonymous ACVR1B 1 83250 1.2012E-5 41625 0 NA
12-52387856-C-G p.Leu494Val missense ACVR1B 1 83256 1.20111E-5 41628 0 3.97985E-6
12-52387858-C-T p.Leu494Leu synonymous ACVR1B 444 83236 0.00533423 41618 13 0.0123598
12-52387861-C-G p.Ser495Ser synonymous ACVR1B 1 83252 1.20117E-5 41626 0 NA
12-52387868-A-C p.Ser498Arg missense ACVR1B 1 83238 1.20137E-5 41619 0 NA
12-52387870-C-T p.Ser498Ser synonymous ACVR1B 1 83232 1.20146E-5 41616 0 1.64889E-5
12-52387871-G-A p.Val499Met missense ACVR1B 2 83244 2.40258E-5 41622 0 3.98229E-6
12-52387882-C-T p.Asp502Asp synonymous ACVR1B 4 83230 4.80596E-5 41615 0 0.00100705
12-52387883-G-A p.Val503Met missense ACVR1B 3 83224 3.60473E-5 41612 0 4.94968E-5
12-52388704-CTG-C c.*814_*815delGT splice_region ACVR1B 1 44570 2.24366E-5 22285 0 NA
12-52388707-T-C c.*813T>C splice_region ACVR1B 3 44606 6.72555E-5 22303 0 NA
12-52388709-T-C c.*815T>C splice_region ACVR1B 1 44640 2.24014E-5 22320 0 NA