ClinVar Miner

List of variants in gene ACVRL1 studied for Telangiectasia, hereditary hemorrhagic, type 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 767
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.*1246T>C rs706819 0.71921
NM_000020.3(ACVRL1):c.314-35A>G rs2071219 0.46706
NM_000020.3(ACVRL1):c.313+11C>T rs2071218 0.45979
NM_000020.3(ACVRL1):c.1378-248T>G rs2656315 0.32172
NM_000020.3(ACVRL1):c.1378-405A>G rs813471 0.31751
NM_000020.3(ACVRL1):c.1377+45T>C rs706815 0.31560
NM_000020.3(ACVRL1):c.1377+65A>G rs706816 0.31557
NM_000020.3(ACVRL1):c.*560T>C rs706818 0.31441
NM_000020.3(ACVRL1):c.*1926T>C rs2293094 0.13660
NM_000020.3(ACVRL1):c.1378-699C>T rs74094825 0.13248
NM_000020.3(ACVRL1):c.*869C>T rs113690319 0.12912
NM_000020.3(ACVRL1):c.*913C>T rs75074181 0.12876
NM_000020.3(ACVRL1):c.*2398G>A rs2293092 0.11085
NM_000020.3(ACVRL1):c.-5-227C>G rs2277381 0.08706
NM_000020.3(ACVRL1):c.1378-155T>G rs2277383 0.08548
NM_000020.3(ACVRL1):c.*2380C>G rs2293093 0.08542
NM_000020.3(ACVRL1):c.625+164T>C rs77709482 0.07925
NM_000020.3(ACVRL1):c.-5-33C>T rs2277382 0.07716
NM_000020.3(ACVRL1):c.*1021T>C rs697631 0.05250
NM_000020.3(ACVRL1):c.*949C>T rs810052 0.05244
NM_000020.3(ACVRL1):c.1378-339T>G rs74094826 0.05144
NM_000020.3(ACVRL1):c.1377+326G>T rs11609817 0.04840
NM_000020.3(ACVRL1):c.1378-217A>G rs772003 0.04704
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563 0.04166
NM_000020.3(ACVRL1):c.61+22A>G rs706812 0.03730
NM_000020.3(ACVRL1):c.*2313G>A rs61914025 0.02816
NM_000020.3(ACVRL1):c.626-53C>T rs111245531 0.02158
NM_000020.3(ACVRL1):c.*862G>A rs116256992 0.02136
NM_000020.3(ACVRL1):c.1378-30T>C rs142910573 0.02009
NM_000020.3(ACVRL1):c.*58G>A rs182368657 0.01817
NM_000020.3(ACVRL1):c.314-65G>C rs113559681 0.01773
NM_000020.3(ACVRL1):c.*1560A>C rs80260084 0.01740
NM_000020.3(ACVRL1):c.*2422A>G rs706820 0.01556
NM_000020.3(ACVRL1):c.*1776C>T rs78150616 0.01548
NM_000020.3(ACVRL1):c.1377+636C>T rs706817 0.01525
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=) rs77341011 0.01461
NM_000020.3(ACVRL1):c.-46C>G rs190953189 0.01297
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113 0.01212
NM_000020.3(ACVRL1):c.*935G>C rs116740271 0.01206
NM_000020.3(ACVRL1):c.1378-556C>T rs78740726 0.00969
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000020.3(ACVRL1):c.1246+19C>T rs185343653 0.00959
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744 0.00958
NM_000020.3(ACVRL1):c.*1041G>T rs199949661 0.00887
NM_000020.3(ACVRL1):c.62-69G>T rs114852790 0.00802
NM_000020.3(ACVRL1):c.*423C>T rs114741844 0.00592
NM_000020.3(ACVRL1):c.1378-711C>T rs116778422 0.00492
NM_000020.3(ACVRL1):c.*499T>G rs572632343 0.00446
NM_000020.3(ACVRL1):c.772+24C>T rs151169686 0.00421
NM_000020.3(ACVRL1):c.*992A>G rs567585207 0.00409
NM_000020.3(ACVRL1):c.-52G>A rs573048639 0.00390
NM_000020.3(ACVRL1):c.*2281G>T rs114323941 0.00374
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000020.3(ACVRL1):c.*871C>T rs142552361 0.00167
NM_000020.3(ACVRL1):c.*242A>G rs147728309 0.00109
NM_000020.3(ACVRL1):c.1378-115T>A rs568821415 0.00091
NM_000020.3(ACVRL1):c.543C>T (p.Asp181=) rs140970131 0.00090
NM_000020.3(ACVRL1):c.484C>T (p.Leu162Phe) rs76038779 0.00088
NM_000020.3(ACVRL1):c.313+40G>C rs376033978 0.00078
NM_000020.3(ACVRL1):c.*2277A>T rs529631289 0.00069
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_000020.3(ACVRL1):c.*1493G>A rs565400159 0.00061
NM_000020.3(ACVRL1):c.1247-15A>G rs186868158 0.00056
NM_000020.3(ACVRL1):c.*1689G>A rs139351455 0.00046
NM_000020.3(ACVRL1):c.*2347A>C rs573540605 0.00046
NM_000020.3(ACVRL1):c.*590G>T rs750985560 0.00046
NM_000020.3(ACVRL1):c.642C>T (p.Gly214=) rs139008591 0.00045
NM_000020.3(ACVRL1):c.329C>T (p.Ser110Leu) rs143872998 0.00041
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=) rs147005473 0.00040
NM_000020.3(ACVRL1):c.666C>T (p.His222=) rs377194545 0.00034
NM_000020.3(ACVRL1):c.-129G>A rs886049607 0.00032
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499 0.00031
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056 0.00031
NM_000020.3(ACVRL1):c.*1662A>T rs886049618 0.00026
NM_000020.3(ACVRL1):c.1122G>T (p.Arg374=) rs187902433 0.00024
NM_000020.3(ACVRL1):c.817C>T (p.Leu273=) rs55802125 0.00024
NM_000020.3(ACVRL1):c.*1369C>T rs202206221 0.00022
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=) rs375679140 0.00021
NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu) rs199542304 0.00019
NM_000020.3(ACVRL1):c.*823C>T rs117777735 0.00016
NM_000020.3(ACVRL1):c.-194A>C rs886049606 0.00016
NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His) rs141764916 0.00016
NM_000020.3(ACVRL1):c.*120G>A rs539571133 0.00014
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00014
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=) rs143735377 0.00013
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846 0.00013
NM_000020.3(ACVRL1):c.*132G>A rs867355962 0.00012
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg) rs139380315 0.00011
NM_000020.3(ACVRL1):c.993C>T (p.Phe331=) rs56379428 0.00011
NM_000020.3(ACVRL1):c.664C>T (p.His222Tyr) rs746715195 0.00010
NM_000020.3(ACVRL1):c.*1676T>C rs747662494 0.00009
NM_000020.3(ACVRL1):c.*1777G>A rs546585572 0.00009
NM_000020.3(ACVRL1):c.*1839C>T rs755262319 0.00009
NM_000020.3(ACVRL1):c.1134C>T (p.Pro378=) rs147021958 0.00009
NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe) rs141653630 0.00009
NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569 0.00009
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098 0.00009
NM_000020.3(ACVRL1):c.78G>A (p.Pro26=) rs774167132 0.00008
NM_000020.3(ACVRL1):c.1360C>T (p.Arg454Trp) rs373133784 0.00006
NM_000020.3(ACVRL1):c.294C>T (p.Asn98=) rs141429164 0.00006
NM_000020.3(ACVRL1):c.376G>A (p.Val126Met) rs369146413 0.00006
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile) rs138048445 0.00006
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751 0.00006
NM_000020.3(ACVRL1):c.786A>G (p.Ser262=) rs200320649 0.00006
NM_000020.3(ACVRL1):c.1104G>A (p.Pro368=) rs147885255 0.00005
NM_000020.3(ACVRL1):c.111G>A (p.Glu37=) rs781586192 0.00005
NM_000020.3(ACVRL1):c.526-11C>T rs573934792 0.00004
NM_000020.3(ACVRL1):c.5C>T (p.Thr2Ile) rs373062714 0.00004
NM_000020.3(ACVRL1):c.699G>A (p.Ser233=) rs149508813 0.00004
NM_000020.3(ACVRL1):c.840C>T (p.His280=) rs146188863 0.00004
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp) rs145300204 0.00004
NM_000020.3(ACVRL1):c.*1107G>T rs1459562251 0.00003
NM_000020.3(ACVRL1):c.*2113C>T rs777884246 0.00003
NM_000020.3(ACVRL1):c.*2268G>C rs929096514 0.00003
NM_000020.3(ACVRL1):c.*251A>G rs886049613 0.00003
NM_000020.3(ACVRL1):c.1161G>A (p.Thr387=) rs150140878 0.00003
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn) rs1231598304 0.00003
NM_000020.3(ACVRL1):c.1376C>T (p.Pro459Leu) rs767764795 0.00003
NM_000020.3(ACVRL1):c.1377+785G>A rs568206326 0.00003
NM_000020.3(ACVRL1):c.1406G>A (p.Arg469Gln) rs200459424 0.00003
NM_000020.3(ACVRL1):c.303G>C (p.Leu101=) rs376417482 0.00003
NM_000020.3(ACVRL1):c.518T>C (p.Met173Thr) rs754813319 0.00003
NM_000020.3(ACVRL1):c.858C>T (p.Tyr286=) rs542810348 0.00003
NM_000020.3(ACVRL1):c.1173G>A (p.Glu391=) rs750157791 0.00002
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577 0.00002
NM_000020.3(ACVRL1):c.1239C>T (p.Ile413=) rs755557465 0.00002
NM_000020.3(ACVRL1):c.1378-417C>T rs1038380207 0.00002
NM_000020.3(ACVRL1):c.208G>A (p.Gly70Arg) rs1439294840 0.00002
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=) rs556168617 0.00002
NM_000020.3(ACVRL1):c.429C>T (p.Val143=) rs762047618 0.00002
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln) rs778058646 0.00002
NM_000020.3(ACVRL1):c.470T>C (p.Leu157Pro) rs1371249289 0.00002
NM_000020.3(ACVRL1):c.511G>A (p.Asp171Asn) rs369436815 0.00002
NM_000020.3(ACVRL1):c.61+7A>T rs200221603 0.00002
NM_000020.3(ACVRL1):c.813G>T (p.Thr271=) rs543884349 0.00002
NM_000020.3(ACVRL1):c.933G>A (p.Ala311=) rs779758131 0.00002
NM_000020.3(ACVRL1):c.*1599A>G rs1438021354 0.00001
NM_000020.3(ACVRL1):c.*2098A>C rs886049619 0.00001
NM_000020.3(ACVRL1):c.*2252G>A rs1293668616 0.00001
NM_000020.3(ACVRL1):c.*2440G>T rs527990415 0.00001
NM_000020.3(ACVRL1):c.*814G>A rs1297798490 0.00001
NM_000020.3(ACVRL1):c.*879G>T rs886049615 0.00001
NM_000020.3(ACVRL1):c.*980C>T rs1376992134 0.00001
NM_000020.3(ACVRL1):c.-168G>C rs1465380790 0.00001
NM_000020.3(ACVRL1):c.-5-59C>T rs563686436 0.00001
NM_000020.3(ACVRL1):c.-58G>A rs886049608 0.00001
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro) rs371005117 0.00001
NM_000020.3(ACVRL1):c.1093G>A (p.Gly365Ser) rs749510030 0.00001
NM_000020.3(ACVRL1):c.1098C>T (p.Asn366=) rs779118678 0.00001
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu) rs748123979 0.00001
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg) rs1324917279 0.00001
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248 0.00001
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000020.3(ACVRL1):c.120T>C (p.His40=) rs745507845 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.1378-368T>C rs1940945149 0.00001
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp) rs768072967 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000020.3(ACVRL1):c.1443C>T (p.Thr481=) rs1219639551 0.00001
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_000020.3(ACVRL1):c.18C>G (p.Pro6=) rs778246850 0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405 0.00001
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu) rs1283365095 0.00001
NM_000020.3(ACVRL1):c.246C>T (p.Thr82=) rs754476526 0.00001
NM_000020.3(ACVRL1):c.24A>G (p.Lys8=) rs776283937 0.00001
NM_000020.3(ACVRL1):c.338C>T (p.Pro113Leu) rs777206350 0.00001
NM_000020.3(ACVRL1):c.525+10T>C rs555706400 0.00001
NM_000020.3(ACVRL1):c.526-10G>A rs771469803 0.00001
NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp) rs999380946 0.00001
NM_000020.3(ACVRL1):c.599G>A (p.Arg200Gln) rs1018788708 0.00001
NM_000020.3(ACVRL1):c.722G>A (p.Arg241Gln) rs202062929 0.00001
NM_000020.3(ACVRL1):c.780C>T (p.Ile260=) rs911791104 0.00001
NM_000020.3(ACVRL1):c.807G>A (p.Ser269=) rs1332822854 0.00001
NM_000020.3(ACVRL1):c.846C>T (p.His282=) rs574165873 0.00001
NM_000020.3(ACVRL1):c.87C>T (p.Gly29=) rs139486404 0.00001
NM_000020.3(ACVRL1):c.90G>A (p.Pro30=) rs373401329 0.00001
NM_000020.3(ACVRL1):c.918G>C (p.Ala306=) rs1359095143 0.00001
NC_000012.11:g.(?_52306239)_(52314697_?)del
NC_000012.11:g.(?_52306259)_(52307877_?)del
NC_000012.11:g.(?_52306259)_(52310037_?)dup
NC_000012.11:g.(?_52306863)_(52310037_?)del
NC_000012.11:g.(?_52309800)_(52310037_?)del
NC_000012.11:g.(?_52314523)_(52314677_?)del
NC_000012.11:g.52308281_52308282insAlu
NC_000012.12:g.(?_51912465)_(51912545_?)del
NC_000012.12:g.(?_51912465)_(51920903_?)del
NC_000012.12:g.(?_51913079)_(51913790_?)del
NC_000012.12:g.(?_51913089)_(51916243_?)del
NC_000012.12:g.(?_51913539)_(51919135_?)del
NC_000012.12:g.(?_51913954)_(51919135_?)del
NC_000012.12:g.(?_51920691)_(51920903_?)del
NC_000012.12:g.(?_51920739)_(51920913_?)del
NC_000012.12:g.51907469G>C rs1002184603
NM_000020.2(ACVRL1):c.-202C>G rs573855752
NM_000020.3(ACVRL1):c.*1042C>G rs56683171
NM_000020.3(ACVRL1):c.*1042C>T rs56683171
NM_000020.3(ACVRL1):c.*131C>T rs886049610
NM_000020.3(ACVRL1):c.*1351G>A rs886049616
NM_000020.3(ACVRL1):c.*1560A>G rs80260084
NM_000020.3(ACVRL1):c.*1630C>T rs886049617
NM_000020.3(ACVRL1):c.*200A>G rs886049611
NM_000020.3(ACVRL1):c.*2034G>T rs1941017240
NM_000020.3(ACVRL1):c.*205G>A rs886049612
NM_000020.3(ACVRL1):c.*45del rs761647766
NM_000020.3(ACVRL1):c.*46T>G rs763282018
NM_000020.3(ACVRL1):c.*478G>A rs1940976966
NM_000020.3(ACVRL1):c.*592G>A rs1940979955
NM_000020.3(ACVRL1):c.1004A>G (p.Asn335Ser) rs1060503247
NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile) rs1060503247
NM_000020.3(ACVRL1):c.1005T>C (p.Asn335=)
NM_000020.3(ACVRL1):c.1007T>A (p.Val336Glu) rs1565594467
NM_000020.3(ACVRL1):c.1008_1009del (p.Leu337fs)
NM_000020.3(ACVRL1):c.100T>A (p.Cys34Ser)
NM_000020.3(ACVRL1):c.100T>C (p.Cys34Arg)
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000020.3(ACVRL1):c.1010T>G (p.Leu337Arg)
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs) rs2139074041
NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly) rs1940812234
NM_000020.3(ACVRL1):c.1014C>T (p.Val338=) rs1565594472
NM_000020.3(ACVRL1):c.1015A>T (p.Lys339Ter) rs1940812366
NM_000020.3(ACVRL1):c.101G>A (p.Cys34Tyr)
NM_000020.3(ACVRL1):c.1025T>C (p.Leu342Pro) rs762287966
NM_000020.3(ACVRL1):c.1027_1047del (p.Gln343_Leu349del) rs1592224385
NM_000020.3(ACVRL1):c.1028A>C (p.Gln343Pro) rs1592224402
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter) rs1226848374
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg) rs1592224412
NM_000020.3(ACVRL1):c.1030_1048+18del rs1940812948
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe) rs28936688
NM_000020.3(ACVRL1):c.1032T>A (p.Cys344Ter) rs368437392
NM_000020.3(ACVRL1):c.1032T>C (p.Cys344=) rs368437392
NM_000020.3(ACVRL1):c.1033T>C (p.Cys345Arg) rs1060503239
NM_000020.3(ACVRL1):c.1034G>A (p.Cys345Tyr) rs1592224431
NM_000020.3(ACVRL1):c.1035C>A (p.Cys345Ter)
NM_000020.3(ACVRL1):c.1036A>T (p.Ile346Phe)
NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs) rs1565594524
NM_000020.3(ACVRL1):c.1037T>G (p.Ile346Ser)
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr) rs1940813707
NM_000020.3(ACVRL1):c.1038C>G (p.Ile346Met)
NM_000020.3(ACVRL1):c.1039G>C (p.Ala347Pro)
NM_000020.3(ACVRL1):c.1040_1042dup (p.Ala347_Asp348insAla)
NM_000020.3(ACVRL1):c.1041C>G (p.Ala347=) rs750685021
NM_000020.3(ACVRL1):c.1041C>T (p.Ala347=) rs750685021
NM_000020.3(ACVRL1):c.1041del (p.Asp348fs) rs1940813766
NM_000020.3(ACVRL1):c.1042G>C (p.Asp348His)
NM_000020.3(ACVRL1):c.1042G>T (p.Asp348Tyr) rs1940813954
NM_000020.3(ACVRL1):c.1042del (p.Asp348fs) rs1565594536
NM_000020.3(ACVRL1):c.1043_1048+1dup rs1940814079
NM_000020.3(ACVRL1):c.1044C>G (p.Asp348Glu)
NM_000020.3(ACVRL1):c.1044_1048+4dup
NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro) rs765895870
NM_000020.3(ACVRL1):c.1048+1G>A rs2139074368
NM_000020.3(ACVRL1):c.1048+2T>C
NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT rs1940814416
NM_000020.3(ACVRL1):c.1048+55_1048+58del rs575587274
NM_000020.3(ACVRL1):c.1048+5G>A
NM_000020.3(ACVRL1):c.1048+7C>T
NM_000020.3(ACVRL1):c.1048+8G>A
NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser)
NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg) rs1565594547
NM_000020.3(ACVRL1):c.1049-16G>A
NM_000020.3(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.3(ACVRL1):c.1049-1G>T rs1060503242
NM_000020.3(ACVRL1):c.1049-9C>T
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.3(ACVRL1):c.1055C>T (p.Ala352Val)
NM_000020.3(ACVRL1):c.1055del (p.Ala352fs) rs1940830552
NM_000020.3(ACVRL1):c.1056T>C (p.Ala352=) rs764080716
NM_000020.3(ACVRL1):c.105del (p.Cys36fs) rs1555152447
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter) rs2139075900
NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg) rs2139064443
NM_000020.3(ACVRL1):c.1110G>A (p.Val370=)
NM_000020.3(ACVRL1):c.1111G>T (p.Gly371Cys) rs2139076199
NM_000020.3(ACVRL1):c.1112G>C (p.Gly371Ala) rs1940832594
NM_000020.3(ACVRL1):c.1113_1114insG (p.Thr372fs) rs387906394
NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile) rs1565594920
NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly) rs28936401
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1121G>C (p.Arg374Pro) rs1060503248
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.3(ACVRL1):c.1124A>T (p.Tyr375Phe) rs1085307416
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val) rs1555153277
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg) rs28936399
NM_000020.3(ACVRL1):c.1129G>A (p.Ala377Thr) rs1565594969
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1133C>A (p.Pro378His)
NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg) rs1940833669
NM_000020.3(ACVRL1):c.1133C>T (p.Pro378Leu)
NM_000020.3(ACVRL1):c.1135G>C (p.Glu379Gln)
NM_000020.3(ACVRL1):c.1136A>G (p.Glu379Gly)
NM_000020.3(ACVRL1):c.1136A>T (p.Glu379Val)
NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn)
NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro) rs1085307417
NM_000020.3(ACVRL1):c.1146C>T (p.Asp382=)
NM_000020.3(ACVRL1):c.1147G>T (p.Glu383Ter) rs148057374
NM_000020.3(ACVRL1):c.1153A>C (p.Ile385Leu) rs1205407812
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs) rs1940834530
NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs) rs2139064475
NM_000020.3(ACVRL1):c.1161G>C (p.Thr387=)
NM_000020.3(ACVRL1):c.1163A>G (p.Asp388Gly) rs1940835356
NM_000020.3(ACVRL1):c.1165_1179del (p.Cys389_Tyr393del) rs1940835452
NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter) rs1940836063
NM_000020.3(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) rs1565595070
NM_000020.3(ACVRL1):c.1187C>T (p.Thr396Ile)
NM_000020.3(ACVRL1):c.1188T>C (p.Thr396=)
NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn) rs1592225036
NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn) rs1940836783
NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val) rs1592225044
NM_000020.3(ACVRL1):c.1191C>T (p.Asp397=)
NM_000020.3(ACVRL1):c.1192A>G (p.Ile398Val)
NM_000020.3(ACVRL1):c.1193T>A (p.Ile398Asn) rs121909286
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg) rs1085307418
NM_000020.3(ACVRL1):c.1195T>G (p.Trp399Gly) rs1085307418
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter) rs121909289
NM_000020.3(ACVRL1):c.1197G>A (p.Trp399Ter) rs1940837338
NM_000020.3(ACVRL1):c.1198G>A (p.Ala400Thr)
NM_000020.3(ACVRL1):c.1198G>C (p.Ala400Pro) rs2139076978
NM_000020.3(ACVRL1):c.1198del (p.Ala400fs)
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp) rs2139076990
NM_000020.3(ACVRL1):c.1199C>T (p.Ala400Val)
NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser) rs1555153354
NM_000020.3(ACVRL1):c.1211T>A (p.Val404Glu)
NM_000020.3(ACVRL1):c.1215del (p.Trp406fs) rs2139077020
NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter) rs1060503235
NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys) rs2139077046
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.3(ACVRL1):c.121T>G (p.Cys41Gly) rs2139064528
NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly) rs1565595121
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His)
NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr) rs1184716348
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1231_1246+4dup rs1940838178
NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro) rs121909284
NM_000020.3(ACVRL1):c.1246+11A>G
NM_000020.3(ACVRL1):c.1246+16A>C
NM_000020.3(ACVRL1):c.1246+1G>A rs1565595176
NM_000020.3(ACVRL1):c.1246+2T>C rs1555153382
NM_000020.3(ACVRL1):c.1246+5G>A rs1940838881
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1247-13T>G
NM_000020.3(ACVRL1):c.1247-1G>C rs2139083899
NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala) rs1940905575
NM_000020.3(ACVRL1):c.124_138del (p.Lys42_Cys46del) rs2139064546
NM_000020.3(ACVRL1):c.1250_1269del (p.Ile417fs) rs1555153796
NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met) rs753480401
NM_000020.3(ACVRL1):c.1260del (p.Tyr421fs)
NM_000020.3(ACVRL1):c.1261T>A (p.Tyr421Asn)
NM_000020.3(ACVRL1):c.1263T>C (p.Tyr421=)
NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr) rs1085307419
NM_000020.3(ACVRL1):c.1270C>G (p.Pro424Ala) rs1085307419
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg) rs1940906429
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu)
NM_000020.3(ACVRL1):c.1275C>T (p.Phe425=) rs191763644
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys) rs771606504
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser) rs2139084154
NM_000020.3(ACVRL1):c.1298C>A (p.Pro433His) rs1940907270
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs) rs1940731395
NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs) rs2139064592
NM_000020.3(ACVRL1):c.1310A>G (p.Asp437Gly) rs1060503238
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
NM_000020.3(ACVRL1):c.1315A>T (p.Lys439Ter)
NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del) rs1940907616
NM_000020.3(ACVRL1):c.131_132insCACA (p.Cys46fs) rs2139064649
NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met) rs1565596498
NM_000020.3(ACVRL1):c.1323G>A (p.Val441=) rs1592226875
NM_000020.3(ACVRL1):c.1323_1324dup (p.Val442fs) rs1555153830
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.3(ACVRL1):c.1325T>C (p.Val442Ala) rs2139084277
NM_000020.3(ACVRL1):c.1327T>G (p.Cys443Gly)
NM_000020.3(ACVRL1):c.132delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys46fs)
NM_000020.3(ACVRL1):c.1331_1332dup (p.Asp445fs) rs1565596508
NM_000020.3(ACVRL1):c.1331dup (p.Asp445fs) rs1940908116
NM_000020.3(ACVRL1):c.1334_1335del (p.Asp445fs) rs2139084307
NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.3(ACVRL1):c.1339C>T (p.Gln447Ter) rs2139084336
NM_000020.3(ACVRL1):c.1345C>T (p.Pro449Ser) rs1940908457
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1347del (p.Thr450fs) rs1940908396
NM_000020.3(ACVRL1):c.1347dup (p.Thr450fs)
NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu) rs1555153848
NM_000020.3(ACVRL1):c.1359C>T (p.Asn453=)
NM_000020.3(ACVRL1):c.1361G>A (p.Arg454Gln)
NM_000020.3(ACVRL1):c.1376del (p.Pro459fs)
NM_000020.3(ACVRL1):c.1377+1G>A rs863223406
NM_000020.3(ACVRL1):c.1377+20T>G
NM_000020.3(ACVRL1):c.1377+248_1377+251dup rs200979126
NM_000020.3(ACVRL1):c.1377+249TG[18] rs55945390
NM_000020.3(ACVRL1):c.1377+249TG[23] rs55945390
NM_000020.3(ACVRL1):c.1377+2T>G rs1555153854
NM_000020.3(ACVRL1):c.1377+4A>T rs1940909579
NM_000020.3(ACVRL1):c.1377+55T>C
NM_000020.3(ACVRL1):c.1377+745G>A
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=) rs61734312
NM_000020.3(ACVRL1):c.1378-11C>T
NM_000020.3(ACVRL1):c.1378-131C>T
NM_000020.3(ACVRL1):c.1378-1G>A rs1060503237
NM_000020.3(ACVRL1):c.1378-216C>G rs111710113
NM_000020.3(ACVRL1):c.1378-248del rs202089535
NM_000020.3(ACVRL1):c.1378-297T>A
NM_000020.3(ACVRL1):c.1378-2A>G rs2139089146
NM_000020.3(ACVRL1):c.1378-49C>T
NM_000020.3(ACVRL1):c.1378-4C>G
NM_000020.3(ACVRL1):c.1378-595_1378-594insAGTTGATGAGCTTCCTGGGATG rs1344683257
NM_000020.3(ACVRL1):c.1378-69C>T
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.3(ACVRL1):c.1381dup (p.Leu461fs) rs2139089160
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
NM_000020.3(ACVRL1):c.1396C>T (p.Gln466Ter)
NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs) rs1555152455
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs) rs1940731944
NM_000020.3(ACVRL1):c.1403T>G (p.Met468Arg)
NM_000020.3(ACVRL1):c.1405C>A (p.Arg469=) rs760773605
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp) rs760773605
NM_000020.3(ACVRL1):c.1408dup (p.Glu470fs)
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
NM_000020.3(ACVRL1):c.1411T>C (p.Cys471Arg)
NM_000020.3(ACVRL1):c.1411T>G (p.Cys471Gly) rs1940955180
NM_000020.3(ACVRL1):c.1412G>A (p.Cys471Tyr) rs1555154137
NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter) rs1301762186
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) rs1555154144
NM_000020.3(ACVRL1):c.1416G>A (p.Trp472Ter)
NM_000020.3(ACVRL1):c.1416G>C (p.Trp472Cys) rs1060503243
NM_000020.3(ACVRL1):c.1416G>T (p.Trp472Cys) rs1060503243
NM_000020.3(ACVRL1):c.1419C>A (p.Tyr473Ter) rs1940955656
NM_000020.3(ACVRL1):c.1419C>G (p.Tyr473Ter) rs1940955656
NM_000020.3(ACVRL1):c.1426_1428del (p.Pro476del)
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg) rs1940955941
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu) rs1940955941
NM_000020.3(ACVRL1):c.1428del (p.Ser477fs) rs1592228303
NM_000020.3(ACVRL1):c.142G>A (p.Gly48Arg) rs2139064757
NM_000020.3(ACVRL1):c.1432G>C (p.Ala478Pro) rs1295923763
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.1436G>C (p.Arg479Pro) rs1085307426
NM_000020.3(ACVRL1):c.1438C>A (p.Leu480Ile)
NM_000020.3(ACVRL1):c.1438C>T (p.Leu480Phe)
NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu) rs267606632
NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) rs387906392
NM_000020.3(ACVRL1):c.1442C>T (p.Thr481Ile)
NM_000020.3(ACVRL1):c.1443C>G (p.Thr481=)
NM_000020.3(ACVRL1):c.1444G>A (p.Ala482Thr)
NM_000020.3(ACVRL1):c.1444G>C (p.Ala482Pro)
NM_000020.3(ACVRL1):c.1445C>A (p.Ala482Glu)
NM_000020.3(ACVRL1):c.1448T>G (p.Leu483Arg) rs1565597471
NM_000020.3(ACVRL1):c.1448del (p.Leu483fs) rs1940958854
NM_000020.3(ACVRL1):c.1450C>A (p.Arg484=) rs121909288
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000020.3(ACVRL1):c.1451G>C (p.Arg484Pro) rs863223408
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu) rs863223408
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del) rs1940959480
NM_000020.3(ACVRL1):c.1459A>C (p.Lys487Gln) rs1940959530
NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu) rs1940959530
NM_000020.3(ACVRL1):c.145G>C (p.Ala49Pro) rs267606633
NM_000020.3(ACVRL1):c.145del (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr) rs1085307428
NM_000020.3(ACVRL1):c.1464A>C (p.Thr488=)
NM_000020.3(ACVRL1):c.1464A>G (p.Thr488=) rs1286842082
NM_000020.3(ACVRL1):c.1465C>A (p.Leu489Ile) rs1940959903
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro) rs1057523573
NM_000020.3(ACVRL1):c.1467A>G (p.Leu489=)
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg) rs1555152468
NM_000020.3(ACVRL1):c.148T>G (p.Trp50Gly) rs1555152468
NM_000020.3(ACVRL1):c.1509A>G (p.Gln503=) rs745390732
NM_000020.3(ACVRL1):c.150G>C (p.Trp50Cys) rs121909285
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys) rs121909285
NM_000020.3(ACVRL1):c.151T>A (p.Cys51Ser)
NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly) rs2139064874
NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr) rs863223409
NM_000020.3(ACVRL1):c.180G>A (p.Gly60=)
NM_000020.3(ACVRL1):c.180del (p.Arg61fs)
NM_000020.3(ACVRL1):c.183G>C (p.Arg61Ser)
NM_000020.3(ACVRL1):c.183del (p.Arg61fs) rs1060503246
NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter) rs1592221728
NM_000020.3(ACVRL1):c.190del (p.Gln64fs) rs1060503241
NM_000020.3(ACVRL1):c.191dup (p.Glu65fs)
NM_000020.3(ACVRL1):c.193G>T (p.Glu65Ter) rs1427299751
NM_000020.3(ACVRL1):c.193del (p.Glu65fs) rs2139065161
NM_000020.3(ACVRL1):c.199del (p.Arg67fs)
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg) rs2139065261
NM_000020.3(ACVRL1):c.205T>G (p.Cys69Gly)
NM_000020.3(ACVRL1):c.206G>A (p.Cys69Tyr) rs1318118188
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter) rs56080682
NM_000020.3(ACVRL1):c.223G>T (p.Glu75Ter) rs750720985
NM_000020.3(ACVRL1):c.223del (p.Glu75fs) rs2139065347
NM_000020.3(ACVRL1):c.231C>G (p.Cys77Trp) rs1221689111
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg)
NM_000020.3(ACVRL1):c.237del (p.Arg80fs) rs1592221830
NM_000020.3(ACVRL1):c.237dup (p.Arg80fs) rs1592221830
NM_000020.3(ACVRL1):c.247G>A (p.Glu83Lys)
NM_000020.3(ACVRL1):c.251T>G (p.Phe84Cys) rs1940738967
NM_000020.3(ACVRL1):c.259C>G (p.His87Asp) rs1430932447
NM_000020.3(ACVRL1):c.259del (p.His87fs) rs1940739463
NM_000020.3(ACVRL1):c.263A>G (p.Tyr88Cys) rs1940739692
NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter) rs775754117
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly) rs1555152520
NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe) rs1060503234
NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp) rs1592221930
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr) rs863223410
NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe) rs863223410
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
NM_000020.3(ACVRL1):c.271G>A (p.Asp91Asn)
NM_000020.3(ACVRL1):c.281T>C (p.Leu94Pro)
NM_000020.3(ACVRL1):c.286A>C (p.Asn96His)
NM_000020.3(ACVRL1):c.286A>G (p.Asn96Asp) rs2139065803
NM_000020.3(ACVRL1):c.289_294del (p.His97_Asn98del)
NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.3(ACVRL1):c.303_313+2del
NM_000020.3(ACVRL1):c.306G>T (p.Val102=)
NM_000020.3(ACVRL1):c.313+1G>A rs1555152548
NM_000020.3(ACVRL1):c.313+1G>C
NM_000020.3(ACVRL1):c.313+1G>T rs1555152548
NM_000020.3(ACVRL1):c.313+7C>G rs374171506
NM_000020.3(ACVRL1):c.313+7C>T rs374171506
NM_000020.3(ACVRL1):c.314-12C>A rs1226569087
NM_000020.3(ACVRL1):c.314-13C>T
NM_000020.3(ACVRL1):c.314-16T>C
NM_000020.3(ACVRL1):c.314-19C>T
NM_000020.3(ACVRL1):c.314-49G>C rs200624173
NM_000020.3(ACVRL1):c.314-9C>T
NM_000020.3(ACVRL1):c.320_323dup (p.Pro109fs)
NM_000020.3(ACVRL1):c.329C>A (p.Ser110Ter) rs143872998
NM_000020.3(ACVRL1):c.336del (p.Gln112fs) rs1940750523
NM_000020.3(ACVRL1):c.339G>A (p.Pro113=)
NM_000020.3(ACVRL1):c.352C>T (p.Gln118Ter) rs1940751311
NM_000020.3(ACVRL1):c.353_360dup (p.Leu121fs)
NM_000020.3(ACVRL1):c.362_374del (p.Leu121fs) rs2139067065
NM_000020.3(ACVRL1):c.368T>A (p.Leu123Gln)
NM_000020.3(ACVRL1):c.368T>C (p.Leu123Pro) rs762756031
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=) rs56301903
NM_000020.3(ACVRL1):c.372C>T (p.Gly124=) rs55758365
NM_000020.3(ACVRL1):c.375C>T (p.Pro125=) rs148975811
NM_000020.3(ACVRL1):c.375del (p.Val126fs) rs1940751760
NM_000020.3(ACVRL1):c.375dup (p.Val126fs) rs1940751760
NM_000020.3(ACVRL1):c.376del (p.Val126fs)
NM_000020.3(ACVRL1):c.377dup (p.Leu127fs) rs2139067187
NM_000020.3(ACVRL1):c.393C>T (p.Ala131=) rs2139067291
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs) rs2139067412
NM_000020.3(ACVRL1):c.417C>A (p.Gly139=) rs2139067433
NM_000020.3(ACVRL1):c.41dup (p.Met15fs) rs1060503236
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.430del (p.Arg144fs)
NM_000020.3(ACVRL1):c.435del (p.Arg146fs) rs2139067539
NM_000020.3(ACVRL1):c.462C>T (p.His154=) rs1188042599
NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys)
NM_000020.3(ACVRL1):c.469C>T (p.Leu157=)
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter) rs1940756257
NM_000020.3(ACVRL1):c.476A>G (p.Glu159Gly)
NM_000020.3(ACVRL1):c.495A>G (p.Lys165=)
NM_000020.3(ACVRL1):c.499T>C (p.Ser167Pro)
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
NM_000020.3(ACVRL1):c.500_518del (p.Ser167fs) rs2139067828
NM_000020.3(ACVRL1):c.505C>T (p.Gln169Ter) rs2139067861
NM_000020.3(ACVRL1):c.50dup (p.Leu17fs) rs2139062776
NM_000020.3(ACVRL1):c.510del (p.Asp171fs) rs2139067888
NM_000020.3(ACVRL1):c.514dup (p.Ser172fs) rs1940757414
NM_000020.3(ACVRL1):c.525+14_525+21del
NM_000020.3(ACVRL1):c.525+1G>A rs1555152710
NM_000020.3(ACVRL1):c.525+1G>C
NM_000020.3(ACVRL1):c.525+1G>T rs1555152710
NM_000020.3(ACVRL1):c.525+1del rs1060503249
NM_000020.3(ACVRL1):c.525+2T>C rs2139067969
NM_000020.3(ACVRL1):c.525+3A>G
NM_000020.3(ACVRL1):c.525+7G>A
NM_000020.3(ACVRL1):c.526-13T>A
NM_000020.3(ACVRL1):c.526-1G>A rs1565593274
NM_000020.3(ACVRL1):c.526-7C>A rs772776468
NM_000020.3(ACVRL1):c.526-7C>G
NM_000020.3(ACVRL1):c.526G>T (p.Asp176Tyr)
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs) rs1555152774
NM_000020.3(ACVRL1):c.542_545del (p.Asp181fs) rs1555152771
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter) rs2139068677
NM_000020.3(ACVRL1):c.549C>A (p.Thr183=) rs2139068700
NM_000020.3(ACVRL1):c.557G>T (p.Ser186Ile) rs1288729113
NM_000020.3(ACVRL1):c.55dup (p.Thr19fs)
NM_000020.3(ACVRL1):c.573C>G (p.Pro191=) rs1404977364
NM_000020.3(ACVRL1):c.573del (p.Phe192fs) rs1555152786
NM_000020.3(ACVRL1):c.576C>G (p.Phe192Leu)
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro) rs1555152790
NM_000020.3(ACVRL1):c.579G>T (p.Leu193=) rs201207660
NM_000020.3(ACVRL1):c.583C>T (p.Gln195Ter)
NM_000020.3(ACVRL1):c.586A>G (p.Arg196Gly)
NM_000020.3(ACVRL1):c.589A>G (p.Thr197Ala)
NM_000020.3(ACVRL1):c.58C>T (p.Gln20Ter) rs1555152345
NM_000020.3(ACVRL1):c.593T>C (p.Val198Ala) rs886043123
NM_000020.3(ACVRL1):c.598C>G (p.Arg200Gly) rs999380946
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.3(ACVRL1):c.61+14G>A
NM_000020.3(ACVRL1):c.61+1G>A
NM_000020.3(ACVRL1):c.61+1G>T
NM_000020.3(ACVRL1):c.611TGG[1] (p.Val205del) rs1060503250
NM_000020.3(ACVRL1):c.615G>A (p.Val205=) rs1940766632
NM_000020.3(ACVRL1):c.619T>G (p.Cys207Gly)
NM_000020.3(ACVRL1):c.62-9G>A
NM_000020.3(ACVRL1):c.621T>A (p.Cys207Ter) rs1940766819
NM_000020.3(ACVRL1):c.623_624del (p.Val208fs) rs1060503240
NM_000020.3(ACVRL1):c.625+10G>A rs1592223042
NM_000020.3(ACVRL1):c.625+110_625+121del rs1592223149
NM_000020.3(ACVRL1):c.625+110_625+130del rs67833112
NM_000020.3(ACVRL1):c.625+1G>A
NM_000020.3(ACVRL1):c.625+1G>T rs1940767034
NM_000020.3(ACVRL1):c.625+1del rs1555152815
NM_000020.3(ACVRL1):c.625+20G>A
NM_000020.3(ACVRL1):c.625+2T>C rs1592223028
NM_000020.3(ACVRL1):c.625+3G>C
NM_000020.3(ACVRL1):c.625+4del
NM_000020.3(ACVRL1):c.625+5G>T rs2139069022
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg) rs1940766958
NM_000020.3(ACVRL1):c.626-16C>T
NM_000020.3(ACVRL1):c.626-1G>A rs2139070294
NM_000020.3(ACVRL1):c.626-2A>G rs1940780382
NM_000020.3(ACVRL1):c.626-59del rs864622702
NM_000020.3(ACVRL1):c.626-9G>A rs1940780208
NM_000020.3(ACVRL1):c.631G>A (p.Gly211Ser)
NM_000020.3(ACVRL1):c.631G>T (p.Gly211Cys) rs1940780439
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.3(ACVRL1):c.633C>T (p.Gly211=)
NM_000020.3(ACVRL1):c.641del (p.Gly214fs) rs1555152909
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
NM_000020.3(ACVRL1):c.646_657dup (p.Val216_Gly219dup) rs2139070394
NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter) rs1592223399
NM_000020.3(ACVRL1):c.651del (p.Trp217fs)
NM_000020.3(ACVRL1):c.653G>C (p.Arg218Pro) rs779287554
NM_000020.3(ACVRL1):c.655G>C (p.Gly219Arg) rs1592223416
NM_000020.3(ACVRL1):c.660G>C (p.Leu220Phe) rs142906906
NM_000020.3(ACVRL1):c.663G>A (p.Trp221Ter) rs2139070482
NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser) rs1940782114
NM_000020.3(ACVRL1):c.667G>C (p.Gly223Arg)
NM_000020.3(ACVRL1):c.670G>A (p.Glu224Lys)
NM_000020.3(ACVRL1):c.670G>T (p.Glu224Ter)
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs) rs1940782251
NM_000020.3(ACVRL1):c.673del (p.Ser225fs)
NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu) rs1565593639
NM_000020.3(ACVRL1):c.685A>G (p.Lys229Glu) rs1592223468
NM_000020.3(ACVRL1):c.686A>G (p.Lys229Arg)
NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met) rs1940782891
NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn) rs1940782986
NM_000020.3(ACVRL1):c.688A>T (p.Ile230Phe)
NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del)
NM_000020.3(ACVRL1):c.68del (p.Pro23fs) rs2139064139
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.698C>G (p.Ser233Trp) rs762773076
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.698_699dup (p.Asp235fs) rs2139070714
NM_000020.3(ACVRL1):c.69T>C (p.Pro23=) rs762796409
NM_000020.3(ACVRL1):c.703del (p.Asp235fs)
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.711_713delinsAG (p.Ser238fs) rs1555152935
NM_000020.3(ACVRL1):c.713C>T (p.Ser238Phe) rs761033311
NM_000020.3(ACVRL1):c.714del (p.Trp239fs) rs1940783683
NM_000020.3(ACVRL1):c.716G>A (p.Trp239Ter)
NM_000020.3(ACVRL1):c.717G>A (p.Trp239Ter)
NM_000020.3(ACVRL1):c.721C>T (p.Arg241Trp)
NM_000020.3(ACVRL1):c.724G>T (p.Glu242Ter) rs1940784067
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs) rs1592221459
NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys) rs755026232
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) rs1555152955
NM_000020.3(ACVRL1):c.748T>G (p.Leu250Val)
NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25_Pro26delinsSerCysTer)
NM_000020.3(ACVRL1):c.758A>G (p.His253Arg) rs2139070976
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.3(ACVRL1):c.761ACA[1] (p.Asn255del)
NM_000020.3(ACVRL1):c.763A>G (p.Asn255Asp)
NM_000020.3(ACVRL1):c.770T>C (p.Leu257Pro) rs2139071033
NM_000020.3(ACVRL1):c.772+14_772+16delinsTAG
NM_000020.3(ACVRL1):c.772+1G>C rs1940785759
NM_000020.3(ACVRL1):c.772+27G>A
NM_000020.3(ACVRL1):c.772+5G>A
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000020.3(ACVRL1):c.773-3C>G rs1592223964
NM_000020.3(ACVRL1):c.773-7C>T
NM_000020.3(ACVRL1):c.773-7_773-6delinsTC rs1555153071
NM_000020.3(ACVRL1):c.787G>A (p.Asp263Asn) rs2139072643
NM_000020.3(ACVRL1):c.789del (p.Asp263fs)
NM_000020.3(ACVRL1):c.78_81del (p.Ser27fs) rs2139064218
NM_000020.3(ACVRL1):c.798C>A (p.Ser266=) rs2139072722
NM_000020.3(ACVRL1):c.806C>A (p.Ser269Ter)
NM_000020.3(ACVRL1):c.807_810del (p.Ser270fs) rs2139072772
NM_000020.3(ACVRL1):c.808_820dup (p.Trp274Ter) rs1555153077
NM_000020.3(ACVRL1):c.812C>A (p.Thr271Lys) rs2139072795
NM_000020.3(ACVRL1):c.812C>G (p.Thr271Arg)
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409
NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter) rs757645341
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys) rs757645341
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro)
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg) rs750085854
NM_000020.3(ACVRL1):c.830C>T (p.Thr277Met)
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr)
NM_000020.3(ACVRL1):c.838_842del (p.His280fs)
NM_000020.3(ACVRL1):c.841G>T (p.Glu281Ter) rs779485996
NM_000020.3(ACVRL1):c.843G>A (p.Glu281=)
NM_000020.3(ACVRL1):c.847G>A (p.Gly283Ser)
NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs) rs1940804402
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val) rs1940804461
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.3(ACVRL1):c.851_905del (p.Gly283_Ser284insTer)
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000020.3(ACVRL1):c.858C>A (p.Tyr286Ter) rs542810348
NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser) rs1940804969
NM_000020.3(ACVRL1):c.864dup (p.Leu289fs)
NM_000020.3(ACVRL1):c.866T>C (p.Leu289Pro)
NM_000020.3(ACVRL1):c.868C>T (p.Gln290Ter) rs2139073064
NM_000020.3(ACVRL1):c.86del (p.Gly29fs) rs1940729491
NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter) rs1057256890
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) rs1592224087
NM_000020.3(ACVRL1):c.874C>T (p.Gln292Ter) rs1940805354
NM_000020.3(ACVRL1):c.877del (p.Thr293fs)
NM_000020.3(ACVRL1):c.881T>G (p.Leu294Arg) rs2139073155
NM_000020.3(ACVRL1):c.888C>G (p.Pro296=) rs776879586
NM_000020.3(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.3(ACVRL1):c.897T>C (p.Ala299=)
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.907G>C (p.Ala303Pro) rs1565594220
NM_000020.3(ACVRL1):c.909T>C (p.Ala303=)
NM_000020.3(ACVRL1):c.913_916del (p.Ser305fs)
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.915C>T (p.Ser305=)
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro) rs1940807179
NM_000020.3(ACVRL1):c.916_917delinsAA (p.Ala306Lys) rs1060503244
NM_000020.3(ACVRL1):c.916_917insTCA (p.Ala306delinsValThr) rs1940807412
NM_000020.3(ACVRL1):c.919del (p.Ala307fs)
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu) rs863223411
NM_000020.3(ACVRL1):c.921A>T (p.Ala307=)
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.3(ACVRL1):c.925G>A (p.Gly309Ser) rs1555153133
NM_000020.3(ACVRL1):c.925G>C (p.Gly309Arg) rs1555153133
NM_000020.3(ACVRL1):c.927_928delinsAT (p.Gly309_Leu310=) rs1592224196
NM_000020.3(ACVRL1):c.929_932del (p.Leu310fs) rs1940808154
NM_000020.3(ACVRL1):c.931G>C (p.Ala311Pro) rs565262730
NM_000020.3(ACVRL1):c.931dup (p.Ala311fs) rs2139073551
NM_000020.3(ACVRL1):c.933G>C (p.Ala311=)
NM_000020.3(ACVRL1):c.935A>C (p.His312Pro)
NM_000020.3(ACVRL1):c.938T>G (p.Leu313Arg)
NM_000020.3(ACVRL1):c.940C>A (p.His314Asn) rs1565594311
NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr) rs1565594311
NM_000020.3(ACVRL1):c.950T>C (p.Ile317Thr) rs1085307413
NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000020.3(ACVRL1):c.961C>T (p.Gln321Ter) rs2139073732
NM_000020.3(ACVRL1):c.962_963del (p.Gln321fs)
NM_000020.3(ACVRL1):c.967A>G (p.Lys323Glu)
NM_000020.3(ACVRL1):c.968A>C (p.Lys323Thr)
NM_000020.3(ACVRL1):c.969A>C (p.Lys323Asn) rs771877309
NM_000020.3(ACVRL1):c.974C>G (p.Ala325Gly)
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_000020.3(ACVRL1):c.980C>A (p.Ala327Asp) rs769850351
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) rs1592224291
NM_000020.3(ACVRL1):c.983A>C (p.His328Pro) rs2139073840
NM_000020.3(ACVRL1):c.983A>G (p.His328Arg)
NM_000020.3(ACVRL1):c.984C>A (p.His328Gln) rs1565594410
NM_000020.3(ACVRL1):c.986G>A (p.Arg329His) rs863223412
NM_000020.3(ACVRL1):c.988G>T (p.Asp330Tyr)
NM_000020.3(ACVRL1):c.990C>G (p.Asp330Glu)
NM_000020.3(ACVRL1):c.990C>T (p.Asp330=) rs1463725277
NM_000020.3(ACVRL1):c.992T>C (p.Phe331Ser) rs1166311240
NM_000020.3(ACVRL1):c.994A>G (p.Lys332Glu) rs2139073925
NM_000020.3(ACVRL1):c.995A>G (p.Lys332Arg) rs2139073933
NM_000020.3(ACVRL1):c.997A>T (p.Ser333Cys) rs2139073944
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg) rs1453780248

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