Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-52301275-C-T c.-204-6C>T splice_region ACVRL1 1 12368 8.08538E-5 6184 0 NA
12-52301283-C-G c.-202C>G splice_region ACVRL1 6 13110 4.57666E-4 6555 0 0.00102742
12-52306167-G-A c.-50G>A 5_prime_UTR_premature_start_codon_gain ACVRL1 1 80774 1.23802E-5 40387 0 4.43573E-6
12-52306221-C-T p.Ala2Val missense ACVRL1 6480 82546 0.0785017 41273 267 0.0860512
12-52306223-C-T p.Leu3Phe missense ACVRL1 3 82952 3.61655E-5 41476 0 4.26854E-5
12-52306227-C-T p.Thr4Ile missense ACVRL1 11 82988 1.32549E-4 41494 0 3.18634E-4
12-52306229-C-T p.Pro5Ser missense ACVRL1 3 83040 3.61272E-5 41520 0 5.07125E-5
12-52306237-C-T p.Leu7Leu synonymous ACVRL1 11 83092 1.32383E-4 41546 0 4.37769E-5
12-52306242-T-G p.Leu9Arg missense ACVRL1 42 83126 5.05257E-4 41563 0 6.05906E-4
12-52306244-C-T p.Leu10Phe missense ACVRL1 1 83140 1.20279E-5 41570 0 1.19359E-5
12-52306249-T-C c.-5-5T>C splice_region ACVRL1 2 83142 2.40552E-5 41571 0 2.38701E-5
12-52306255-G-T c.-4G>T splice_region ACVRL1 1 83184 1.20215E-5 41592 0 1.19342E-5
12-52306263-C-T p.Thr2Ile missense ACVRL1 4 83190 4.80827E-5 41595 0 5.80951E-5
12-52306267-G-A p.Leu3Leu synonymous ACVRL1 15 83182 1.80327E-4 41591 0 6.25E-4
12-52306275-C-G p.Pro6Arg missense ACVRL1 1 83176 1.20227E-5 41588 0 NA
12-52306276-C-G p.Pro6Pro synonymous ACVRL1 1 83168 1.20239E-5 41584 0 4.14931E-5
12-52306284-G-A p.Gly9Asp missense ACVRL1 1 83156 1.20256E-5 41578 0 NA
12-52306293-T-C p.Met12Thr missense ACVRL1 1 83162 1.20247E-5 41581 0 NA
12-52306294-G-C p.Met12Ile missense ACVRL1 1 83152 1.20262E-5 41576 0 8.312E-6
12-52306306-C-CT p.Leu17fs frameshift ACVRL1 1 82980 1.20511E-5 41490 0 NA
12-52306310-G-A p.Val18Met missense ACVRL1 1 82854 1.20694E-5 41427 0 3.18552E-5
12-52306326-A-T c.61+7A>T splice_region ACVRL1 2 82618 2.42078E-5 41309 0 8.37481E-5
12-52306887-C-T p.Asp22Asp synonymous ACVRL1 2 79880 2.50376E-5 39940 0 NA
12-52306896-G-A p.Lys25Lys synonymous ACVRL1 1 80328 1.2449E-5 40164 0 NA
12-52306898-C-T p.Pro26Leu missense ACVRL1 3 80424 3.73023E-5 40212 0 5.74896E-4
12-52306902-T-G p.Ser27Ser synonymous ACVRL1 1 80566 1.24122E-5 40283 0 NA
12-52306903-C-T p.Arg28Trp missense ACVRL1 2 80670 2.47924E-5 40335 0 2.53955E-5
12-52306908-C-T p.Gly29Gly synonymous ACVRL1 6 80776 7.42795E-5 40388 0 3.54996E-5
12-52306909-C-T p.Pro30Ser missense ACVRL1 25 80838 3.09261E-4 40419 0 0.0025227
12-52306925-C-T p.Thr35Met missense ACVRL1 1 81150 1.23229E-5 40575 0 6.38447E-5
12-52306926-G-A p.Thr35Thr synonymous ACVRL1 2 81196 2.46318E-5 40598 0 6.3861E-5
12-52306932-G-C p.Glu37Asp missense ACVRL1 2 81314 2.4596E-5 40657 0 NA
12-52306948-G-A p.Gly43Arg missense ACVRL1 2 81346 2.45863E-5 40673 0 2.6104E-5
12-52306960-C-T p.Arg47Trp missense ACVRL1 4 81420 4.9128E-5 40710 0 4.50342E-5
12-52306961-G-A p.Arg47Gln missense ACVRL1 1 81470 1.22745E-5 40735 0 6.11154E-5
12-52306991-G-A p.Arg57Gln missense ACVRL1 1 81572 1.22591E-5 40786 0 2.4585E-5
12-52307012-A-C p.Gln64Pro missense ACVRL1 1 81540 1.22639E-5 40770 0 NA
12-52307017-C-T p.His66Tyr missense ACVRL1 1 81550 1.22624E-5 40775 0 NA
12-52307028-C-T p.Cys69Cys synonymous ACVRL1 26 81476 3.19112E-4 40738 0 0.00248635
12-52307041-A-G p.Arg74Gly missense ACVRL1 1 81460 1.2276E-5 40730 0 NA
12-52307063-C-T p.Pro81Leu missense ACVRL1 1 81148 1.23232E-5 40574 0 4.30119E-6
12-52307067-C-T p.Thr82Thr synonymous ACVRL1 3 81100 3.69914E-5 40550 0 4.68372E-5
12-52307068-G-A p.Glu83Lys missense ACVRL1 1 81124 1.23268E-5 40562 0 6.25E-4
12-52307073-C-T p.Phe84Phe synonymous ACVRL1 4 81042 4.93571E-5 40521 0 5.33461E-5
12-52307074-G-A p.Val85Ile missense ACVRL1 4 80996 4.93852E-5 40498 0 3.34969E-5
12-52307080-C-T p.His87Tyr missense ACVRL1 3 81146 3.69704E-5 40573 0 4.13281E-6
12-52307091-C-T p.Cys90Cys synonymous ACVRL1 2 81032 2.46816E-5 40516 0 2.46816E-5
12-52307092-G-A p.Asp91Asn missense ACVRL1 1 81032 1.23408E-5 40516 0 1.12367E-5
12-52307115-C-T p.Asn98Asn synonymous ACVRL1 7 80950 8.64731E-5 40475 0 7.11223E-5
12-52307119-T-A p.Ser100Thr missense ACVRL1 2 80736 2.47721E-5 40368 0 8.14034E-6
12-52307124-G-C p.Leu101Leu synonymous ACVRL1 1 80710 1.239E-5 40355 0 3.19081E-5
12-52307124-G-A p.Leu101Leu synonymous ACVRL1 1 80710 1.239E-5 40355 0 1.63151E-5
12-52307127-G-T p.Val102Val synonymous ACVRL1 1 80640 1.24008E-5 40320 0 3.00788E-5
12-52307141-C-G c.313+7C>G splice_region ACVRL1 6 80206 7.48074E-5 40103 0 1.59398E-4
12-52307337-C-T c.314-6C>T splice_region ACVRL1 1 77546 1.28956E-5 38773 0 3.18634E-5
12-52307348-C-A p.Gln107Lys missense ACVRL1 1 77538 1.28969E-5 38769 0 4.28831E-6
12-52307350-A-G p.Gln107Gln synonymous ACVRL1 1 77514 1.29009E-5 38757 0 5.0813E-4
12-52307358-C-T p.Ser110Leu missense ACVRL1 7 77556 9.02574E-5 38778 0 3.82287E-4
12-52307359-G-A p.Ser110Ser synonymous ACVRL1 551 77558 0.00710436 38779 6 0.0123008
12-52307370-G-C p.Gly114Ala missense ACVRL1 2 77902 2.56733E-5 38951 0 1.26692E-5
12-52307384-C-T p.Leu119Leu synonymous ACVRL1 1 77818 1.28505E-5 38909 0 NA
12-52307397-T-A p.Leu123Gln missense ACVRL1 1 78000 1.28205E-5 39000 0 9.55779E-5
12-52307397-T-G p.Leu123Arg missense ACVRL1 1 78000 1.28205E-5 39000 0 NA
12-52307399-G-C p.Gly124Arg missense ACVRL1 2 77802 2.57063E-5 38901 0 NA
12-52307401-C-T p.Gly124Gly synonymous ACVRL1 1 77890 1.28386E-5 38945 0 NA
12-52307404-C-T p.Pro125Pro synonymous ACVRL1 5 77930 6.41601E-5 38965 0 7.50682E-5
12-52307405-G-A p.Val126Met missense ACVRL1 8 78062 1.02483E-4 39031 0 5.05051E-4
12-52307405-G-C p.Val126Leu missense ACVRL1 1 78062 1.28103E-5 39031 0 4.16462E-6
12-52307408-C-G p.Leu127Val missense ACVRL1 1 78280 1.27747E-5 39140 0 NA
12-52307417-C-CAGGCCCTGG p.Leu130delinsGlnAlaLeuVal disruptive_inframe_insertion ACVRL1 1 78564 1.27285E-5 39282 0 NA
12-52307425-G-C p.Leu132Leu synonymous ACVRL1 1 78776 1.26942E-5 39388 0 4.12106E-6
12-52307436-G-T p.Gly136Val missense ACVRL1 1 79056 1.26493E-5 39528 0 NA
12-52307437-T-C p.Gly136Gly synonymous ACVRL1 1 79012 1.26563E-5 39506 0 NA
12-52307438-G-C p.Val137Leu missense ACVRL1 1 79040 1.26518E-5 39520 0 3.18431E-5
12-52307458-C-T p.Val143Val synonymous ACVRL1 1 79644 1.25559E-5 39822 0 8.12051E-6
12-52307459-C-T p.Arg144* stop_gained ACVRL1 1 79578 1.25663E-5 39789 0 8.56648E-6
12-52307460-G-A p.Arg144Gln missense ACVRL1 1 79650 1.25549E-5 39825 0 2.56805E-5
12-52307462-C-T p.Arg145Trp missense ACVRL1 1 79592 1.25641E-5 39796 0 3.1841E-5
12-52307463-G-A p.Arg145Gln missense ACVRL1 3 79748 3.76185E-5 39874 0 3.24081E-5
12-52307480-C-T p.Arg151Cys missense ACVRL1 5 79648 6.27762E-5 39824 0 6.37308E-5
12-52307481-G-A p.Arg151His missense ACVRL1 2 79684 2.50991E-5 39842 0 5.24718E-5
12-52307494-C-T p.Ser155Ser synonymous ACVRL1 6 79558 7.54167E-5 39779 0 1.27453E-4
12-52307503-A-G p.Gly158Gly synonymous ACVRL1 2 79794 2.50645E-5 39897 0 NA
12-52307513-C-T p.Leu162Phe missense ACVRL1 18 79904 2.2527E-4 39952 0 6.69045E-4
12-52307539-C-T p.Gly170Gly synonymous ACVRL1 1 79148 1.26346E-5 39574 0 4.43949E-5
12-52307540-G-A p.Asp171Asn missense ACVRL1 4 79436 5.0355E-5 39718 0 1.96129E-4
12-52307546-A-G p.Met173Val missense ACVRL1 1 79378 1.25979E-5 39689 0 NA
12-52307547-T-C p.Met173Thr missense ACVRL1 1 79352 1.26021E-5 39676 0 3.18979E-5
12-52307552-G-C p.Gly175Arg missense+splice_region ACVRL1 2 79210 2.52493E-5 39605 0 0.001875
12-52307751-C-A c.526-7C>A splice_region ACVRL1 1 81354 1.2292E-5 40677 0 NA
12-52307775-C-T p.Asp181Asp synonymous ACVRL1 27 81562 3.31037E-4 40781 0 5.73614E-4
12-52307793-C-T p.Gly187Gly synonymous ACVRL1 1 81774 1.22288E-5 40887 0 NA
12-52307811-G-T p.Leu193Leu synonymous ACVRL1 1 81994 1.2196E-5 40997 0 0.00101833
12-52307831-G-A p.Arg200Gln missense ACVRL1 1 82086 1.21823E-5 41043 0 4.00863E-6
12-52307863-C-T c.625+6C>T splice_region ACVRL1 1 81936 1.22046E-5 40968 0 NA
12-52308239-C-T p.Gly214Gly synonymous ACVRL1 22 82742 2.65887E-4 41371 0 5.09587E-4
12-52308249-C-T p.Arg218Trp missense ACVRL1 8 82676 9.67633E-5 41338 0 0.001875
12-52308250-G-A p.Arg218Gln missense ACVRL1 1 82716 1.20896E-5 41358 0 8.27883E-6
12-52308252-G-A p.Gly219Ser missense ACVRL1 4 82534 4.84649E-5 41267 0 NA
12-52308257-G-C p.Leu220Phe missense ACVRL1 1 81568 1.22597E-5 40784 0 6.25E-4
12-52308261-C-T p.His222Tyr missense ACVRL1 1 81496 1.22705E-5 40748 0 9.5865E-5
12-52308263-C-T p.His222His synonymous ACVRL1 11 81620 1.34771E-4 40810 0 5.03525E-4
12-52308263-C-G p.His222Gln missense ACVRL1 1 81620 1.22519E-5 40810 0 1.65511E-5
12-52308265-G-A p.Gly223Asp missense ACVRL1 1 81748 1.22327E-5 40874 0 NA
12-52308278-C-T p.Ala227Ala synonymous ACVRL1 20 82148 2.43463E-4 41074 0 0.00100705
12-52308279-G-A p.Val228Ile missense ACVRL1 3 82168 3.65106E-5 41084 0 1.65631E-5
12-52308290-C-T p.Phe231Phe synonymous ACVRL1 1 82424 1.21324E-5 41212 0 NA
12-52308296-G-A p.Ser233Ser synonymous ACVRL1 2 82418 2.42665E-5 41209 0 6.38081E-5
12-52308318-C-T p.Arg241Trp missense ACVRL1 7 82550 8.47971E-5 41275 0 5.08845E-5
12-52308319-G-A p.Arg241Gln missense ACVRL1 3 82528 3.63513E-5 41264 0 3.98343E-5
12-52308320-G-T p.Arg241Arg synonymous ACVRL1 1 82546 1.21145E-5 41273 0 3.98302E-6
12-52308331-T-G p.Ile245Ser missense ACVRL1 1 82482 1.21239E-5 41241 0 NA
12-52308334-A-G p.Tyr246Cys missense ACVRL1 5 82500 6.06061E-5 41250 0 5.04032E-4
12-52308344-G-A p.Val159Val splice_region+synonymous ACVRL1 1691 82304 0.0205458 41152 76 0.0392026
12-52308356-C-T p.His253His synonymous ACVRL1 23 82090 2.8018E-4 41045 0 0.00125
12-52308357-G-A p.Asp254Asn missense ACVRL1 1 82028 1.2191E-5 41014 0 NA
12-52309002-CA-TC c.773-7_773-6delCAinsTC splice_region ACVRL1 1 80818 1.23735E-5 40409 0 NA
12-52309003-A-G c.773-6A>G splice_region ACVRL1 1 80850 1.23686E-5 40425 0 3.19E-5
12-52309016-C-T p.Ile260Ile synonymous ACVRL1 1 81130 1.23259E-5 40565 0 NA
12-52309022-A-G p.Ser262Ser synonymous ACVRL1 5 81380 6.14402E-5 40690 0 5.59038E-5
12-52309049-G-T p.Thr271Thr synonymous ACVRL1 1 81938 1.22043E-5 40969 0 3.18552E-5
12-52309053-C-T p.Leu273Leu synonymous ACVRL1 17 82074 2.0713E-4 41037 0 0.00125
12-52309061-C-T p.Leu275Leu synonymous ACVRL1 1 82272 1.21548E-5 41136 0 NA
12-52309074-C-T p.His280Tyr missense ACVRL1 2 82400 2.42718E-5 41200 0 3.9813E-6
12-52309076-C-T p.His280His synonymous ACVRL1 2 82440 2.42601E-5 41220 0 6.36862E-5
12-52309077-G-C p.Glu281Gln missense ACVRL1 2 82484 2.42471E-5 41242 0 NA
12-52309083-G-A p.Gly283Ser missense ACVRL1 1 82490 1.21227E-5 41245 0 NA
12-52309085-C-A p.Gly283Gly synonymous ACVRL1 1 82534 1.21162E-5 41267 0 NA
12-52309087-C-G p.Ser284Cys missense ACVRL1 2 82582 2.42184E-5 41291 0 1.65689E-5
12-52309094-C-T p.Tyr286Tyr synonymous ACVRL1 15 82658 1.81471E-4 41329 0 8.28349E-6
12-52309117-T-C p.Leu294Pro missense ACVRL1 1 82750 1.20846E-5 41375 0 NA
12-52309119-G-T p.Glu295* stop_gained ACVRL1 1 82732 1.20872E-5 41366 0 NA
12-52309124-C-G p.Pro296Pro synonymous ACVRL1 2 82776 2.41616E-5 41388 0 1.65744E-5
12-52309126-A-G p.His297Arg missense ACVRL1 22 82758 2.65835E-4 41379 0 1.40887E-4
12-52309133-T-C p.Ala299Ala synonymous ACVRL1 1 82720 1.2089E-5 41360 0 1.27372E-4
12-52309140-C-T p.Leu302Leu synonymous ACVRL1 1 82706 1.2091E-5 41353 0 NA
12-52309145-T-C p.Ala303Ala synonymous ACVRL1 1 82676 1.20954E-5 41338 0 8.29848E-6
12-52309151-C-T p.Ser305Ser synonymous ACVRL1 3 82650 3.62976E-5 41325 0 NA
12-52309153-C-T p.Ala306Val missense ACVRL1 5 82596 6.05356E-5 41298 0 1.57771E-4
12-52309168-C-G p.Ala311Gly missense ACVRL1 1 82462 1.21268E-5 41231 0 8.31214E-6
12-52309168-C-T p.Ala311Val missense ACVRL1 1 82462 1.21268E-5 41231 0 3.98559E-6
12-52309169-G-A p.Ala311Ala synonymous ACVRL1 5 82408 6.06737E-5 41204 0 4.9867E-5
12-52309179-G-A p.Val315Met missense ACVRL1 6 82392 7.28226E-5 41196 0 NA
12-52309184-G-C p.Glu316Asp missense ACVRL1 5 82346 6.07194E-5 41173 0 6.36943E-5
12-52309190-C-T p.Phe318Phe synonymous ACVRL1 1 82184 1.21678E-5 41092 0 8.32959E-6
12-52309229-C-T p.Phe331Phe synonymous ACVRL1 9 81408 1.10554E-4 40704 0 5.03525E-4
12-52309252-A-G p.Lys339Arg missense ACVRL1 1 79726 1.2543E-5 39863 0 4.01523E-6
12-52309258-A-G p.Asn341Ser missense ACVRL1 1 78928 1.26698E-5 39464 0 3.18532E-5
12-52309272-A-G p.Ile346Val missense ACVRL1 1 77250 1.2945E-5 38625 0 NA
12-52309277-C-T p.Ala347Ala synonymous ACVRL1 15 75826 1.97821E-4 37913 0 3.18593E-5
12-52309283-G-A p.Leu349Leu splice_region+synonymous ACVRL1 1 75112 1.33135E-5 37556 0 NA
12-52309290-C-G c.1048+6C>G splice_region ACVRL1 1 73794 1.35512E-5 36897 0 NA
12-52309814-C-A c.1049-6C>A splice_region ACVRL1 2 81478 2.45465E-5 40739 0 NA
12-52309835-A-C p.His355Pro missense ACVRL1 1 82528 1.21171E-5 41264 0 1.19749E-5
12-52309838-C-T p.Ser356Leu missense ACVRL1 1 82616 1.21042E-5 41308 0 3.18654E-5
12-52309842-G-A p.Gln357Gln synonymous ACVRL1 2 82746 2.41704E-5 41373 0 NA
12-52309855-C-T p.Leu362Leu synonymous ACVRL1 2 82954 2.41097E-5 41477 0 1.27372E-4
12-52309860-C-T p.Asp363Asp synonymous ACVRL1 1 83012 1.20465E-5 41506 0 3.98619E-6
12-52309864-G-A p.Gly365Ser missense ACVRL1 2 83046 2.4083E-5 41523 0 3.58683E-5
12-52309873-C-G p.Pro368Ala missense ACVRL1 2 83100 2.40674E-5 41550 0 NA
12-52309874-C-T p.Pro368Leu missense ACVRL1 4 83112 4.81278E-5 41556 0 8.30565E-6
12-52309875-G-A p.Pro368Pro synonymous ACVRL1 8 83128 9.62371E-5 41564 0 1.07907E-4
12-52309889-A-G p.Lys373Arg missense ACVRL1 6 83152 7.2157E-5 41576 0 2.787E-5
12-52309890-G-A p.Lys373Lys synonymous ACVRL1 1 83148 1.20267E-5 41574 0 NA
12-52309893-G-T p.Arg374Arg synonymous ACVRL1 4 83158 4.81012E-5 41579 0 6.05018E-4
12-52309902-A-G p.Ala377Ala synonymous ACVRL1 366 83138 0.00440232 41569 4 0.00898604
12-52309905-C-T p.Pro378Pro synonymous ACVRL1 11 83186 1.32234E-4 41593 0 9.55657E-5
12-52309906-G-A p.Glu379Lys missense ACVRL1 1 83192 1.20204E-5 41596 0 7.96064E-6
12-52309912-C-G p.Leu381Val missense ACVRL1 1 83198 1.20195E-5 41599 0 NA
12-52309914-G-A p.Leu381Leu synonymous ACVRL1 2 83198 2.4039E-5 41599 0 3.97985E-6
12-52309917-C-T p.Asp382Asp synonymous ACVRL1 4 83190 4.80827E-5 41595 0 5.78474E-5
12-52309918-G-C p.Glu383Gln missense ACVRL1 1 83200 1.20192E-5 41600 0 NA
12-52309927-C-T p.Arg386Cys missense ACVRL1 3 83206 3.60551E-5 41603 0 1.19352E-5
12-52309928-G-A p.Arg386His missense ACVRL1 8 83200 9.61538E-5 41600 0 1.27397E-4
12-52309931-C-T p.Thr387Met missense ACVRL1 4 83210 4.80711E-5 41605 0 8.25887E-6
12-52309932-G-A p.Thr387Thr synonymous ACVRL1 8 83208 9.61446E-5 41604 0 1.98223E-4
12-52309936-T-C p.Cys389Arg missense ACVRL1 1 83218 1.20166E-5 41609 0 3.97788E-6
12-52309937-G-A p.Cys389Tyr missense ACVRL1 1 83212 1.20175E-5 41606 0 3.18451E-5
12-52309948-TAC-CAA p.Tyr393Gln missense ACVRL1 1 83230 1.20149E-5 41615 0 NA
12-52309959-T-A p.Thr396Thr synonymous ACVRL1 1 83212 1.20175E-5 41606 0 NA
12-52309999-C-T p.Arg410Cys missense ACVRL1 4 82768 4.83279E-5 41384 0 3.36905E-5
12-52310002-C-T p.Arg411Trp missense ACVRL1 1 82708 1.20907E-5 41354 0 NA
12-52310010-C-T p.Ile413Ile synonymous ACVRL1 1 82522 1.2118E-5 41261 0 2.58264E-5
12-52310011-G-A p.Val414Met missense ACVRL1 1 82466 1.21262E-5 41233 0 8.65232E-6
12-52310016-T-C p.Asn415Asn splice_region+synonymous ACVRL1 2 82332 2.42919E-5 41166 0 NA
12-52312763-T-C c.1247-6T>C splice_region ACVRL1 1 83384 1.19927E-5 41692 0 NA
12-52312771-A-T p.Ile417Phe missense+splice_region ACVRL1 10 83388 1.19921E-4 41694 0 1.90861E-4
12-52312780-G-A p.Asp420Asn missense ACVRL1 1 83390 1.19918E-5 41695 0 3.18735E-5
12-52312797-C-T p.Phe425Phe synonymous ACVRL1 2 83402 2.39802E-5 41701 0 8.23655E-6
12-52312799-A-T p.Tyr426Phe missense ACVRL1 2 83402 2.39802E-5 41701 0 1.64731E-5
12-52312813-A-G p.Asn431Asp missense ACVRL1 1 83404 1.19898E-5 41702 0 NA
12-52312815-T-C p.Asn431Asn synonymous ACVRL1 2 83408 2.39785E-5 41704 0 1.64731E-5
12-52312821-C-T p.Pro433Pro synonymous ACVRL1 1 83406 1.19895E-5 41703 0 NA
12-52312863-G-T p.Gln447His missense ACVRL1 1 83382 1.1993E-5 41691 0 NA
12-52312870-A-G p.Thr450Ala missense ACVRL1 64 83370 7.67662E-4 41685 0 0.00251762
12-52312871-C-T p.Thr450Ile missense ACVRL1 1 83370 1.19947E-5 41685 0 7.95323E-6
12-52312875-C-A p.Ile451Ile synonymous ACVRL1 1 83352 1.19973E-5 41676 0 NA
12-52312882-C-T p.Arg454Trp missense ACVRL1 12 83330 1.44006E-4 41665 0 6.25E-4
12-52312883-G-A p.Arg454Gln missense ACVRL1 1 83316 1.20025E-5 41658 0 8.24307E-6
12-52312885-C-G p.Leu455Val missense ACVRL1 1 83302 1.20045E-5 41651 0 NA
12-52312896-C-T p.Asp458Asp synonymous ACVRL1 1 83266 1.20097E-5 41633 0 1.19363E-5
12-52312898-C-T p.Pro459Leu missense+splice_region ACVRL1 1 83250 1.2012E-5 41625 0 3.18674E-5
12-52312906-C-T p.Pro130Ser missense ACVRL1 1 83212 1.20175E-5 41606 0 NA
12-52312912-C-A p.Leu132Met missense ACVRL1 1 83152 1.20262E-5 41576 0 8.2802E-6
12-52312919-T-G p.Leu134Arg missense ACVRL1 3 83066 3.61159E-5 41533 0 2.39076E-5
12-52312928-G-A p.Arg137His missense ACVRL1 6 82914 7.23641E-5 41457 0 9.56633E-5
12-52312930-G-T p.Gly138Trp missense ACVRL1 1 82874 1.20665E-5 41437 0 3.35909E-5
12-52312940-C-T p.Ala141Val missense ACVRL1 4 82756 4.83349E-5 41378 0 3.18756E-5
12-52312942-C-T p.His142Tyr missense ACVRL1 1 82728 1.20878E-5 41364 0 3.18939E-5
12-52312944-T-C p.His142His synonymous ACVRL1 20894 80788 0.258628 40394 2669 0.313711
12-52312952-A-G p.Asp145Gly missense ACVRL1 1 82494 1.21221E-5 41247 0 9.04584E-6
12-52312958-G-C p.Trp147Ser missense ACVRL1 3 82358 3.64263E-5 41179 0 6.38162E-5
12-52312963-CA-GG p.Gln149Gly missense ACVRL1 3 82224 3.64857E-5 41112 0 NA
12-52312964-A-G p.Gln149Arg missense ACVRL1 19559 79040 0.247457 39520 2095 0.31361
12-52312983-C-A p.Ala155Ala synonymous ACVRL1 1 81274 1.23041E-5 40637 0 4.40995E-6
12-52312985-C-T p.Ser156Phe missense ACVRL1 3 81204 3.6944E-5 40602 0 NA
12-52312987-G-A p.Ala157Thr missense ACVRL1 2 80960 2.47036E-5 40480 0 6.37755E-5
12-52313003-A-G p.Tyr162Cys missense ACVRL1 8 79784 1.00271E-4 39892 0 1.07917E-4
12-52314570-C-T p.Arg469Trp missense ACVRL1 2 83030 2.40877E-5 41515 0 3.30551E-5
12-52314570-C-A p.Arg469Arg synonymous ACVRL1 5 83030 6.02192E-5 41515 0 1.65276E-5
12-52314599-C-G p.Ala478Ala synonymous ACVRL1 1 83104 1.20331E-5 41552 0 NA
12-52314610-C-T p.Ala482Val missense ACVRL1 131 83098 0.00157645 41549 0 0.00200944
12-52314611-G-A p.Ala482Ala synonymous ACVRL1 3 83092 3.61046E-5 41546 0 3.19163E-5
12-52314615-C-A p.Arg484Arg synonymous ACVRL1 1 83102 1.20334E-5 41551 0 NA
12-52314618-A-G p.Ile485Val missense ACVRL1 3 83086 3.61072E-5 41543 0 NA
12-52314641-T-C p.Ile492Ile synonymous ACVRL1 1 82882 1.20653E-5 41441 0 NA
12-52314644-C-G p.Ser493Arg missense ACVRL1 1 82858 1.20688E-5 41429 0 3.98111E-6
12-52314672-C-T p.Gln503* stop_gained ACVRL1 1 82198 1.21657E-5 41099 0 NA
12-52315612-G-C n.176+1G>C splice_donor ACVRL1 5 2810 0.00177936 1405 0 0.0118292