NM_000020.3(ACVRL1):c.-52G>A
|
rs573048639
|
0.00390
|
NM_000020.3(ACVRL1):c.*242A>G
|
rs147728309
|
0.00109
|
NM_000020.3(ACVRL1):c.*2277A>T
|
rs529631289
|
0.00069
|
NM_000020.3(ACVRL1):c.*1493G>A
|
rs565400159
|
0.00061
|
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.-129G>A
|
rs886049607
|
0.00032
|
NM_000020.3(ACVRL1):c.*1662A>T
|
rs886049618
|
0.00026
|
NM_000020.3(ACVRL1):c.-194A>C
|
rs886049606
|
0.00016
|
NM_000020.3(ACVRL1):c.*120G>A
|
rs539571133
|
0.00014
|
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.*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.1249A>T (p.Ile417Phe)
|
rs141653630
|
0.00009
|
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=)
|
rs779236098
|
0.00009
|
NM_000020.3(ACVRL1):c.1360C>T (p.Arg454Trp)
|
rs373133784
|
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.5C>T (p.Thr2Ile)
|
rs373062714
|
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.1258G>A (p.Asp420Asn)
|
rs1231598304
|
0.00003
|
NM_000020.3(ACVRL1):c.1376C>T (p.Pro459Leu)
|
rs767764795
|
0.00003
|
NM_000020.3(ACVRL1):c.518T>C (p.Met173Thr)
|
rs754813319
|
0.00003
|
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys)
|
rs781770577
|
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.*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.1103C>T (p.Pro368Leu)
|
rs748123979
|
0.00001
|
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg)
|
rs1324917279
|
0.00001
|
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp)
|
rs768072967
|
0.00001
|
NM_000020.3(ACVRL1):c.338C>T (p.Pro113Leu)
|
rs777206350
|
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
|
NC_000012.11:g.(?_52306259)_(52310037_?)dup
|
|
|
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.*478G>A
|
rs1940976966
|
|
NM_000020.3(ACVRL1):c.*592G>A
|
rs1940979955
|
|
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro)
|
rs1592224349
|
|
NM_000020.3(ACVRL1):c.1010T>G (p.Leu337Arg)
|
|
|
NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly)
|
rs1940812234
|
|
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.1036A>T (p.Ile346Phe)
|
|
|
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.1040_1042dup (p.Ala347_Asp348insAla)
|
|
|
NM_000020.3(ACVRL1):c.1044_1048+4dup
|
|
|
NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT
|
rs1940814416
|
|
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.1135G>C (p.Glu379Gln)
|
|
|
NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn)
|
|
|
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.1177_1179delinsCAA (p.Tyr393Gln)
|
rs1565595070
|
|
NM_000020.3(ACVRL1):c.1187C>T (p.Thr396Ile)
|
|
|
NM_000020.3(ACVRL1):c.1192A>G (p.Ile398Val)
|
|
|
NM_000020.3(ACVRL1):c.1211T>A (p.Val404Glu)
|
|
|
NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His)
|
|
|
NM_000020.3(ACVRL1):c.1246+5G>A
|
rs1940838881
|
|
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.1252G>A (p.Val418Met)
|
rs753480401
|
|
NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del)
|
rs1940907616
|
|
NM_000020.3(ACVRL1):c.1327T>G (p.Cys443Gly)
|
|
|
NM_000020.3(ACVRL1):c.1361G>A (p.Arg454Gln)
|
|
|
NM_000020.3(ACVRL1):c.1377+4A>T
|
rs1940909579
|
|
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=)
|
rs61734312
|
|
NM_000020.3(ACVRL1):c.1378-297T>A
|
|
|
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser)
|
rs1555152454
|
|
NM_000020.3(ACVRL1):c.1403T>G (p.Met468Arg)
|
|
|
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp)
|
rs760773605
|
|
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.1432G>C (p.Ala478Pro)
|
rs1295923763
|
|
NM_000020.3(ACVRL1):c.1444G>A (p.Ala482Thr)
|
|
|
NM_000020.3(ACVRL1):c.1444G>C (p.Ala482Pro)
|
|
|
NM_000020.3(ACVRL1):c.1448T>G (p.Leu483Arg)
|
rs1565597471
|
|
NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu)
|
rs1940959530
|
|
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.182G>A (p.Arg61Lys)
|
|
|
NM_000020.3(ACVRL1):c.183G>C (p.Arg61Ser)
|
|
|
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg)
|
|
|
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.263A>G (p.Tyr88Cys)
|
rs1940739692
|
|
NM_000020.3(ACVRL1):c.271G>A (p.Asp91Asn)
|
|
|
NM_000020.3(ACVRL1):c.281T>C (p.Leu94Pro)
|
|
|
NM_000020.3(ACVRL1):c.313+7C>T
|
rs374171506
|
|
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.466G>A (p.Glu156Lys)
|
|
|
NM_000020.3(ACVRL1):c.476A>G (p.Glu159Gly)
|
|
|
NM_000020.3(ACVRL1):c.499T>C (p.Ser167Pro)
|
|
|
NM_000020.3(ACVRL1):c.526-13T>A
|
|
|
NM_000020.3(ACVRL1):c.526-7C>A
|
rs772776468
|
|
NM_000020.3(ACVRL1):c.526-7C>G
|
|
|
NM_000020.3(ACVRL1):c.576C>G (p.Phe192Leu)
|
|
|
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro)
|
rs1555152790
|
|
NM_000020.3(ACVRL1):c.586A>G (p.Arg196Gly)
|
|
|
NM_000020.3(ACVRL1):c.589A>G (p.Thr197Ala)
|
|
|
NM_000020.3(ACVRL1):c.593T>C (p.Val198Ala)
|
rs886043123
|
|
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.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.626-9G>A
|
rs1940780208
|
|
NM_000020.3(ACVRL1):c.646_657dup (p.Val216_Gly219dup)
|
rs2139070394
|
|
NM_000020.3(ACVRL1):c.653G>C (p.Arg218Pro)
|
rs779287554
|
|
NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser)
|
rs1940782114
|
|
NM_000020.3(ACVRL1):c.667G>C (p.Gly223Arg)
|
|
|
NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del)
|
|
|
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)
|
rs1592223490
|
|
NM_000020.3(ACVRL1):c.713C>T (p.Ser238Phe)
|
rs761033311
|
|
NM_000020.3(ACVRL1):c.721C>T (p.Arg241Trp)
|
|
|
NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys)
|
rs755026232
|
|
NM_000020.3(ACVRL1):c.748T>G (p.Leu250Val)
|
|
|
NM_000020.3(ACVRL1):c.758A>G (p.His253Arg)
|
rs2139070976
|
|
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.812C>G (p.Thr271Arg)
|
|
|
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys)
|
rs757645341
|
|
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro)
|
|
|
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr)
|
|
|
NM_000020.3(ACVRL1):c.847G>A (p.Gly283Ser)
|
|
|
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.916_917delinsAA (p.Ala306Lys)
|
rs1060503244
|
|
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu)
|
rs863223411
|
|
NM_000020.3(ACVRL1):c.925G>C (p.Gly309Arg)
|
rs1555153133
|
|
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.984C>A (p.His328Gln)
|
rs1565594410
|
|