Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202541890_202550241delCA915941652BMPR2c.1277-421_1414-2475del
c.1208-421_1345-2475del
 ClinVar
2g.202542006_202547980delCA915941653BMPR2c.1277-305_1414-4736del
c.1208-305_1345-4736del
 ClinVar
2g.202542022_202547184delCA645293836BMPR2c.1277-289_1413+4737del
c.1208-289_1344+4737del
 ClinVar
2g.202542376delCA913189655BMPR2c.1342del (p.Asp448IlefsTer26)
c.1273del (p.Asp425IlefsTer26)
 ClinVar dbSNP
2g.202542376G>ACA350342880BMPR2c.1342G>A (p.Asp448Asn)
c.1273G>A (p.Asp425Asn)
2g.202542376G>CCA350342879BMPR2c.1342G>C (p.Asp448His)
c.1273G>C (p.Asp425His)
2g.202542376G>TCA350342878BMPR2c.1342G>T (p.Asp448Tyr)
c.1273G>T (p.Asp425Tyr)
2g.202542377A>CCA350342881BMPR2c.1343A>C (p.Asp448Ala)
c.1274A>C (p.Asp425Ala)
2g.202542377A>GCA350342882BMPR2c.1343A>G (p.Asp448Gly)
c.1274A>G (p.Asp425Gly)
 dbSNP
2g.202542377A>TCA350342883BMPR2c.1343A>T (p.Asp448Val)
c.1274A>T (p.Asp425Val)
2g.202542378T>ACA350342884BMPR2c.1344T>A (p.Asp448Glu)
c.1275T>A (p.Asp425Glu)
2g.202542378T>CCA430854369BMPR2c.1344T>C (p.Asp448=)
c.1275T>C (p.Asp425=)
 ClinVar
2g.202542378T>GCA350342885BMPR2c.1344T>G (p.Asp448Glu)
c.1275T>G (p.Asp425Glu)
2g.202542379A=CA1321550615BMPR2c.1345A= (p.Met449=)
c.1276A= (p.Met426=)
2g.202542379A>CCA350342886BMPR2c.1345A>C (p.Met449Leu)
c.1276A>C (p.Met426Leu)
2g.202542379A>GCA350342887BMPR2c.1345A>G (p.Met449Val)
c.1276A>G (p.Met426Val)
 dbSNP gnomAD v3 gnomAD v4
2g.202542379A>TCA350342888BMPR2c.1345A>T (p.Met449Leu)
c.1276A>T (p.Met426Leu)
2g.202542380T>ACA350342889BMPR2c.1346T>A (p.Met449Lys)
c.1277T>A (p.Met426Lys)
2g.202542380T>CCA350342890BMPR2c.1346T>C (p.Met449Thr)
c.1277T>C (p.Met426Thr)
2g.202542380T>GCA350342891BMPR2c.1346T>G (p.Met449Arg)
c.1277T>G (p.Met426Arg)
 ClinVar dbSNP
2g.202542380T=CA1321550616BMPR2c.1346T= (p.Met449=)
c.1277T= (p.Met426=)
2g.202542381G>ACA350342892BMPR2c.1347G>A (p.Met449Ile)
c.1278G>A (p.Met426Ile)
2g.202542381G>CCA350342893BMPR2c.1347G>C (p.Met449Ile)
c.1278G>C (p.Met426Ile)
2g.202542381G>TCA350342894BMPR2c.1347G>T (p.Met449Ile)
c.1278G>T (p.Met426Ile)
2g.202542382C>ACA350342895BMPR2c.1348C>A (p.Gln450Lys)
c.1279C>A (p.Gln427Lys)
2g.202542382C=CA1321550617BMPR2c.1348C= (p.Gln450=)
c.1279C= (p.Gln427=)
2g.202542382C>GCA350342896BMPR2c.1348C>G (p.Gln450Glu)
c.1279C>G (p.Gln427Glu)
2g.202542382C>TCA64034679BMPR2c.1348C>T (p.Gln450Ter)
c.1279C>T (p.Gln427Ter)
 ClinVar dbSNP COSMIC
2g.202542383A>CCA350342897BMPR2c.1349A>C (p.Gln450Pro)
c.1280A>C (p.Gln427Pro)
2g.202542383A>GCA350342898BMPR2c.1349A>G (p.Gln450Arg)
c.1280A>G (p.Gln427Arg)
2g.202542383A>TCA350342899BMPR2c.1349A>T (p.Gln450Leu)
c.1280A>T (p.Gln427Leu)
 gnomAD v4
2g.202542384G>ACA430854446BMPR2c.1350G>A (p.Gln450=)
c.1281G>A (p.Gln427=)
 dbSNP gnomAD v2 gnomAD v4
2g.202542384G>CCA350342900BMPR2c.1350G>C (p.Gln450His)
c.1281G>C (p.Gln427His)
2g.202542384G=CA1321550618BMPR2c.1350G= (p.Gln450=)
c.1281G= (p.Gln427=)
2g.202542384G>TCA350342901BMPR2c.1350G>T (p.Gln450His)
c.1281G>T (p.Gln427His)
2g.202542385G>ACA350342902BMPR2c.1351G>A (p.Val451Ile)
c.1282G>A (p.Val428Ile)
2g.202542385G>CCA350342903BMPR2c.1351G>C (p.Val451Leu)
c.1282G>C (p.Val428Leu)
2g.202542385G=CA1321550619BMPR2c.1351G= (p.Val451=)
c.1282G= (p.Val428=)
2g.202542385G>TCA2061351BMPR2c.1351G>T (p.Val451Phe)
c.1282G>T (p.Val428Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202542386T>ACA350342904BMPR2c.1352T>A (p.Val451Asp)
c.1283T>A (p.Val428Asp)
2g.202542386T>CCA2061352BMPR2c.1352T>C (p.Val451Ala)
c.1283T>C (p.Val428Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202542386T>GCA350342905BMPR2c.1352T>G (p.Val451Gly)
c.1283T>G (p.Val428Gly)
2g.202542386T=CA1321550620BMPR2c.1352T= (p.Val451=)
c.1283T= (p.Val428=)
2g.202542387T>ACA430854473BMPR2c.1353T>A (p.Val451=)
c.1284T>A (p.Val428=)
2g.202542387T>CCA430854479BMPR2c.1353T>C (p.Val451=)
c.1284T>C (p.Val428=)
2g.202542387T>GCA430854482BMPR2c.1353T>G (p.Val451=)
c.1284T>G (p.Val428=)
2g.202542389_202542390dupCA915941654BMPR2c.1355_1356dup (p.Val453SerfsTer22)
c.1286_1287dup (p.Val430SerfsTer22)
 ClinVar dbSNP
2g.202542388C>ACA350342908BMPR2c.1354C>A (p.Leu452Ile)
c.1285C>A (p.Leu429Ile)
2g.202542388C=CA1321550621BMPR2c.1354C= (p.Leu452=)
c.1285C= (p.Leu429=)
2g.202542388C>GCA350342907BMPR2c.1354C>G (p.Leu452Val)
c.1285C>G (p.Leu429Val)
2g.202542388C>TCA350342906BMPR2c.1354C>T (p.Leu452Phe)
c.1285C>T (p.Leu429Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.202542389T>ACA2061353BMPR2c.1355T>A (p.Leu452His)
c.1286T>A (p.Leu429His)
 dbSNP ExAC
2g.202542389T>CCA350342909BMPR2c.1355T>C (p.Leu452Pro)
c.1286T>C (p.Leu429Pro)
2g.202542389T>GCA350342910BMPR2c.1355T>G (p.Leu452Arg)
c.1286T>G (p.Leu429Arg)
2g.202542389T=CA1321550622BMPR2c.1355T= (p.Leu452=)
c.1286T= (p.Leu429=)
2g.202542390C>ACA430854504BMPR2c.1356C>A (p.Leu452=)
c.1287C>A (p.Leu429=)
2g.202542390C=CA1321550623BMPR2c.1356C= (p.Leu452=)
c.1287C= (p.Leu429=)
2g.202542390C>GCA430854502BMPR2c.1356C>G (p.Leu452=)
c.1287C>G (p.Leu429=)
2g.202542390C>TCA430854498BMPR2c.1356C>T (p.Leu452=)
c.1287C>T (p.Leu429=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202542391G>ACA350342911BMPR2c.1357G>A (p.Val453Met)
c.1288G>A (p.Val430Met)
2g.202542391G>CCA350342912BMPR2c.1357G>C (p.Val453Leu)
c.1288G>C (p.Val430Leu)
2g.202542391G>TCA350342913BMPR2c.1357G>T (p.Val453Leu)
c.1288G>T (p.Val430Leu)
 COSMIC
2g.202542392T>ACA350342914BMPR2c.1358T>A (p.Val453Glu)
c.1289T>A (p.Val430Glu)
2g.202542392T>CCA350342915BMPR2c.1358T>C (p.Val453Ala)
c.1289T>C (p.Val430Ala)
2g.202542392T>GCA350342916BMPR2c.1358T>G (p.Val453Gly)
c.1289T>G (p.Val430Gly)
2g.202542393G>ACA430854526BMPR2c.1359G>A (p.Val453=)
c.1290G>A (p.Val430=)
2g.202542393G>CCA430854529BMPR2c.1359G>C (p.Val453=)
c.1290G>C (p.Val430=)
2g.202542393G>TCA430854534BMPR2c.1359G>T (p.Val453=)
c.1290G>T (p.Val430=)
2g.202542394T>ACA350342917BMPR2c.1360T>A (p.Ser454Thr)
c.1291T>A (p.Ser431Thr)
2g.202542394T>CCA350342918BMPR2c.1360T>C (p.Ser454Pro)
c.1291T>C (p.Ser431Pro)
2g.202542394T>GCA350342919BMPR2c.1360T>G (p.Ser454Ala)
c.1291T>G (p.Ser431Ala)
 dbSNP gnomAD v4
2g.202542394T=CA1321550624BMPR2c.1360T= (p.Ser454=)
c.1291T= (p.Ser431=)
2g.202542395C>ACA350342920BMPR2c.1361C>A (p.Ser454Tyr)
c.1292C>A (p.Ser431Tyr)
2g.202542395C=CA1321550625BMPR2c.1361C= (p.Ser454=)
c.1292C= (p.Ser431=)
2g.202542395C>GCA350342922BMPR2c.1361C>G (p.Ser454Cys)
c.1292C>G (p.Ser431Cys)
2g.202542395C>TCA350342921BMPR2c.1361C>T (p.Ser454Phe)
c.1292C>T (p.Ser431Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.202542396T>ACA430854550BMPR2c.1362T>A (p.Ser454=)
c.1293T>A (p.Ser431=)
2g.202542396T>CCA430854552BMPR2c.1362T>C (p.Ser454=)
c.1293T>C (p.Ser431=)
 ClinVar dbSNP gnomAD v4
2g.202542396T>GCA430854555BMPR2c.1362T>G (p.Ser454=)
c.1293T>G (p.Ser431=)
2g.202542397A>CCA430854559BMPR2c.1363A>C (p.Arg455=)
c.1294A>C (p.Arg432=)
2g.202542397A>GCA350342923BMPR2c.1363A>G (p.Arg455Gly)
c.1294A>G (p.Arg432Gly)
 gnomAD v4
2g.202542397A>TCA350342924BMPR2c.1363A>T (p.Arg455Trp)
c.1294A>T (p.Arg432Trp)
2g.202542398G>ACA350342925BMPR2c.1364G>A (p.Arg455Lys)
c.1295G>A (p.Arg432Lys)
2g.202542398G>CCA350342927BMPR2c.1364G>C (p.Arg455Thr)
c.1295G>C (p.Arg432Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.202542398G=CA1321550626BMPR2c.1364G= (p.Arg455=)
c.1295G= (p.Arg432=)
2g.202542398G>TCA350342926BMPR2c.1364G>T (p.Arg455Met)
c.1295G>T (p.Arg432Met)
2g.202542399G>ACA430854571BMPR2c.1365G>A (p.Arg455=)
c.1296G>A (p.Arg432=)
2g.202542399G>CCA350342928BMPR2c.1365G>C (p.Arg455Ser)
c.1296G>C (p.Arg432Ser)
 gnomAD v4
2g.202542399G>TCA350342929BMPR2c.1365G>T (p.Arg455Ser)
c.1296G>T (p.Arg432Ser)
2g.202542399_202542400delinsGGCA1321550627BMPR2c.1365_1366delinsGG (p.Arg455=)
c.1296_1297delinsGG (p.Arg432=)
2g.202542400G>ACA350342930BMPR2c.1366G>A (p.Glu456Lys)
c.1297G>A (p.Glu433Lys)
2g.202542400G>CCA350342931BMPR2c.1366G>C (p.Glu456Gln)
c.1297G>C (p.Glu433Gln)
2g.202542400G>TCA350342932BMPR2c.1366G>T (p.Glu456Ter)
c.1297G>T (p.Glu433Ter)
2g.202542400delinsCACA645293844BMPR2c.1366delinsCA (p.Glu456GlnfsTer15)
c.1297delinsCA (p.Glu433GlnfsTer15)
 ClinVar dbSNP
2g.202542400_202542401delinsGACA1321550628BMPR2c.1366_1367delinsGA (p.Glu456=)
c.1297_1298delinsGA (p.Glu433=)
2g.202542401A=CA1321550629BMPR2c.1367A= (p.Glu456=)
c.1298A= (p.Glu433=)
2g.202542401A>CCA350342933BMPR2c.1367A>C (p.Glu456Ala)
c.1298A>C (p.Glu433Ala)
2g.202542401A>GCA350342934BMPR2c.1367A>G (p.Glu456Gly)
c.1298A>G (p.Glu433Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.202542401A>TCA350342935BMPR2c.1367A>T (p.Glu456Val)
c.1298A>T (p.Glu433Val)
2g.202542405dupCA645293845BMPR2c.1371dup (p.Gln458ThrfsTer13)
c.1302dup (p.Gln435ThrfsTer13)
 ClinVar dbSNP
2g.202542405delCA645293846BMPR2c.1371del (p.Lys457AsnfsTer17)
c.1302del (p.Lys434AsnfsTer17)
 ClinVar dbSNP COSMIC
2g.202542402A=CA1321550630BMPR2c.1368A= (p.Glu456=)
c.1299A= (p.Glu433=)
2g.202542402A>CCA350342936BMPR2c.1368A>C (p.Glu456Asp)
c.1299A>C (p.Glu433Asp)
2g.202542402A>GCA430854596BMPR2c.1368A>G (p.Glu456=)
c.1299A>G (p.Glu433=)
2g.202542402A>TCA350342937BMPR2c.1368A>T (p.Glu456Asp)
c.1299A>T (p.Glu433Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202542403A>CCA350342938BMPR2c.1369A>C (p.Lys457Gln)
c.1300A>C (p.Lys434Gln)
2g.202542403A>GCA350342939BMPR2c.1369A>G (p.Lys457Glu)
c.1300A>G (p.Lys434Glu)
2g.202542403A>TCA350342940BMPR2c.1369A>T (p.Lys457Ter)
c.1300A>T (p.Lys434Ter)
2g.202542404_202542407delCA2586971107BMPR2c.1370_1373del (p.Lys457ArgfsTer16)
c.1301_1304del (p.Lys434ArgfsTer16)
2g.202542404A>CCA350342941BMPR2c.1370A>C (p.Lys457Thr)
c.1301A>C (p.Lys434Thr)
2g.202542404A>GCA350342943BMPR2c.1370A>G (p.Lys457Arg)
c.1301A>G (p.Lys434Arg)
2g.202542404A>TCA350342942BMPR2c.1370A>T (p.Lys457Ile)
c.1301A>T (p.Lys434Ile)
2g.202542404_202542406delinsAACCA1321550631BMPR2c.1370_1372delinsAAC (p.Lys457=)
c.1301_1303delinsAAC (p.Lys434=)
2g.202542405A=CA1321550632BMPR2c.1371A= (p.Lys457=)
c.1302A= (p.Lys434=)
2g.202542405A>CCA350342944BMPR2c.1371A>C (p.Lys457Asn)
c.1302A>C (p.Lys434Asn)
2g.202542405A>GCA430854622BMPR2c.1371A>G (p.Lys457=)
c.1302A>G (p.Lys434=)
 dbSNP gnomAD v2
2g.202542405A>TCA350342945BMPR2c.1371A>T (p.Lys457Asn)
c.1302A>T (p.Lys434Asn)
2g.202542406_202542407delCA1139657643BMPR2c.1372_1373del (p.Gln458GlufsTer12)
c.1303_1304del (p.Gln435GlufsTer12)
 ClinVar dbSNP
2g.202542406C>ACA350342946BMPR2c.1372C>A (p.Gln458Lys)
c.1303C>A (p.Gln435Lys)
2g.202542406C>GCA350342947BMPR2c.1372C>G (p.Gln458Glu)
c.1303C>G (p.Gln435Glu)
2g.202542406C>TCA350342948BMPR2c.1372C>T (p.Gln458Ter)
c.1303C>T (p.Gln435Ter)
2g.202542406_202542408delinsCAGCA1321550633BMPR2c.1372_1374delinsCAG (p.Gln458=)
c.1303_1305delinsCAG (p.Gln435=)
2g.202542407A>CCA350342949BMPR2c.1373A>C (p.Gln458Pro)
c.1304A>C (p.Gln435Pro)
2g.202542407A>GCA350342950BMPR2c.1373A>G (p.Gln458Arg)
c.1304A>G (p.Gln435Arg)
 gnomAD v4
2g.202542407A>TCA350342951BMPR2c.1373A>T (p.Gln458Leu)
c.1304A>T (p.Gln435Leu)
2g.202542410_202542411delCA645293847BMPR2c.1376_1377del (p.Arg459ThrfsTer11)
c.1307_1308del (p.Arg436ThrfsTer11)
 ClinVar dbSNP
2g.202542408G>ACA430854641BMPR2c.1374G>A (p.Gln458=)
c.1305G>A (p.Gln435=)
 dbSNP
2g.202542408G>CCA350342952BMPR2c.1374G>C (p.Gln458His)
c.1305G>C (p.Gln435His)
2g.202542408G=CA1321550634BMPR2c.1374G= (p.Gln458=)
c.1305G= (p.Gln435=)
2g.202542408G>TCA350342953BMPR2c.1374G>T (p.Gln458His)
c.1305G>T (p.Gln435His)
2g.202542409A>CCA430854647BMPR2c.1375A>C (p.Arg459=)
c.1306A>C (p.Arg436=)
2g.202542409A>GCA350342954BMPR2c.1375A>G (p.Arg459Gly)
c.1306A>G (p.Arg436Gly)
2g.202542409A>TCA350342955BMPR2c.1375A>T (p.Arg459Ter)
c.1306A>T (p.Arg436Ter)
2g.202542410G>ACA350342956BMPR2c.1376G>A (p.Arg459Lys)
c.1307G>A (p.Arg436Lys)
 gnomAD v4
2g.202542410G>CCA350342957BMPR2c.1376G>C (p.Arg459Thr)
c.1307G>C (p.Arg436Thr)
 gnomAD v4
2g.202542410G>TCA350342958BMPR2c.1376G>T (p.Arg459Ile)
c.1307G>T (p.Arg436Ile)
2g.202542411A=CA1321550635BMPR2c.1377A= (p.Arg459=)
c.1308A= (p.Arg436=)
2g.202542411A>CCA350342959BMPR2c.1377A>C (p.Arg459Ser)
c.1308A>C (p.Arg436Ser)
 gnomAD v4
2g.202542411A>GCA430854669BMPR2c.1377A>G (p.Arg459=)
c.1308A>G (p.Arg436=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.202542411A>TCA350342960BMPR2c.1377A>T (p.Arg459Ser)
c.1308A>T (p.Arg436Ser)
2g.202542412C>ACA350342963BMPR2c.1378C>A (p.Pro460Thr)
c.1309C>A (p.Pro437Thr)
2g.202542412C>GCA350342962BMPR2c.1378C>G (p.Pro460Ala)
c.1309C>G (p.Pro437Ala)
2g.202542412C>TCA350342961BMPR2c.1378C>T (p.Pro460Ser)
c.1309C>T (p.Pro437Ser)
2g.202542413C>ACA350342964BMPR2c.1379C>A (p.Pro460His)
c.1310C>A (p.Pro437His)
2g.202542413C=CA1321550636BMPR2c.1379C= (p.Pro460=)
c.1310C= (p.Pro437=)
2g.202542413C>GCA350342965BMPR2c.1379C>G (p.Pro460Arg)
c.1310C>G (p.Pro437Arg)
 ClinVar dbSNP
2g.202542413C>TCA350342966BMPR2c.1379C>T (p.Pro460Leu)
c.1310C>T (p.Pro437Leu)
 gnomAD v4
2g.202542414C>ACA430854696BMPR2c.1380C>A (p.Pro460=)
c.1311C>A (p.Pro437=)
2g.202542414C>GCA430854699BMPR2c.1380C>G (p.Pro460=)
c.1311C>G (p.Pro437=)
2g.202542414C>TCA430854702BMPR2c.1380C>T (p.Pro460=)
c.1311C>T (p.Pro437=)
2g.202542415A=CA1321550637BMPR2c.1381A= (p.Lys461=)
c.1312A= (p.Lys438=)
2g.202542415A>CCA350342967BMPR2c.1381A>C (p.Lys461Gln)
c.1312A>C (p.Lys438Gln)
2g.202542415A>GCA2061354BMPR2c.1381A>G (p.Lys461Glu)
c.1312A>G (p.Lys438Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202542415A>TCA350342968BMPR2c.1381A>T (p.Lys461Ter)
c.1312A>T (p.Lys438Ter)
2g.202542416A=CA1321550638BMPR2c.1382A= (p.Lys461=)
c.1313A= (p.Lys438=)
2g.202542416A>CCA350342969BMPR2c.1382A>C (p.Lys461Thr)
c.1313A>C (p.Lys438Thr)
2g.202542416A>GCA350342971BMPR2c.1382A>G (p.Lys461Arg)
c.1313A>G (p.Lys438Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202542416A>TCA350342970BMPR2c.1382A>T (p.Lys461Met)
c.1313A>T (p.Lys438Met)
2g.202542417G>ACA430854719BMPR2c.1383G>A (p.Lys461=)
c.1314G>A (p.Lys438=)
2g.202542417G>CCA350342972BMPR2c.1383G>C (p.Lys461Asn)
c.1314G>C (p.Lys438Asn)
2g.202542417G>TCA350342973BMPR2c.1383G>T (p.Lys461Asn)
c.1314G>T (p.Lys438Asn)
2g.202542418T>ACA350342974BMPR2c.1384T>A (p.Phe462Ile)
c.1315T>A (p.Phe439Ile)
2g.202542418T>CCA350342975BMPR2c.1384T>C (p.Phe462Leu)
c.1315T>C (p.Phe439Leu)
 gnomAD v4
2g.202542418T>GCA350342976BMPR2c.1384T>G (p.Phe462Val)
c.1315T>G (p.Phe439Val)
2g.202542419T>ACA350342977BMPR2c.1385T>A (p.Phe462Tyr)
c.1316T>A (p.Phe439Tyr)
2g.202542419T>CCA350342978BMPR2c.1385T>C (p.Phe462Ser)
c.1316T>C (p.Phe439Ser)
2g.202542419T>GCA350342979BMPR2c.1385T>G (p.Phe462Cys)
c.1316T>G (p.Phe439Cys)
2g.202542420C>ACA350342980BMPR2c.1386C>A (p.Phe462Leu)
c.1317C>A (p.Phe439Leu)
2g.202542420C=CA1321550639BMPR2c.1386C= (p.Phe462=)
c.1317C= (p.Phe439=)
2g.202542420C>GCA350342981BMPR2c.1386C>G (p.Phe462Leu)
c.1317C>G (p.Phe439Leu)
2g.202542420C>TCA430854747BMPR2c.1386C>T (p.Phe462=)
c.1317C>T (p.Phe439=)
 dbSNP
2g.202542421C>ACA350342984BMPR2c.1387C>A (p.Pro463Thr)
c.1318C>A (p.Pro440Thr)
2g.202542421C=CA1321550640BMPR2c.1387C= (p.Pro463=)
c.1318C= (p.Pro440=)
2g.202542421C>GCA350342983BMPR2c.1387C>G (p.Pro463Ala)
c.1318C>G (p.Pro440Ala)
2g.202542421C>TCA350342982BMPR2c.1387C>T (p.Pro463Ser)
c.1318C>T (p.Pro440Ser)
2g.202542421_202542422insACA645293848BMPR2c.1387_1388insA (p.Pro463HisfsTer8)
c.1318_1319insA (p.Pro440HisfsTer8)
 ClinVar dbSNP
2g.202542422C>ACA350342985BMPR2c.1388C>A (p.Pro463Gln)
c.1319C>A (p.Pro440Gln)
2g.202542422C=CA1321550641BMPR2c.1388C= (p.Pro463=)
c.1319C= (p.Pro440=)
2g.202542422C>GCA350342987BMPR2c.1388C>G (p.Pro463Arg)
c.1319C>G (p.Pro440Arg)
2g.202542422C>TCA350342986BMPR2c.1388C>T (p.Pro463Leu)
c.1319C>T (p.Pro440Leu)
 dbSNP
2g.202542423A>CCA430854758BMPR2c.1389A>C (p.Pro463=)
c.1320A>C (p.Pro440=)
2g.202542423A>GCA430854762BMPR2c.1389A>G (p.Pro463=)
c.1320A>G (p.Pro440=)
2g.202542423A>TCA430854760BMPR2c.1389A>T (p.Pro463=)
c.1320A>T (p.Pro440=)
 gnomAD v4
2g.202542423dupCA645293849BMPR2c.1389dup (p.Glu464ArgfsTer7)
c.1320dup (p.Glu441ArgfsTer7)
 ClinVar dbSNP
2g.202542424G>ACA350342988BMPR2c.1390G>A (p.Glu464Lys)
c.1321G>A (p.Glu441Lys)
2g.202542424G>CCA350342989BMPR2c.1390G>C (p.Glu464Gln)
c.1321G>C (p.Glu441Gln)
2g.202542424G>TCA350342990BMPR2c.1390G>T (p.Glu464Ter)
c.1321G>T (p.Glu441Ter)
2g.202542424_202542425delinsGACA1321550642BMPR2c.1390_1391delinsGA (p.Glu464=)
c.1321_1322delinsGA (p.Glu441=)
2g.202542425A=CA1321550643BMPR2c.1391A= (p.Glu464=)
c.1322A= (p.Glu441=)
2g.202542425A>CCA350342991BMPR2c.1391A>C (p.Glu464Ala)
c.1322A>C (p.Glu441Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.202542425A>GCA350342992BMPR2c.1391A>G (p.Glu464Gly)
c.1322A>G (p.Glu441Gly)
2g.202542425A>TCA350342993BMPR2c.1391A>T (p.Glu464Val)
c.1322A>T (p.Glu441Val)
2g.202542426delCA645293850BMPR2c.1392del (p.Ala465ProfsTer9)
c.1323del (p.Ala442ProfsTer9)
 ClinVar dbSNP
2g.202542426A>CCA350342994BMPR2c.1392A>C (p.Glu464Asp)
c.1323A>C (p.Glu441Asp)
2g.202542426A>GCA430854779BMPR2c.1392A>G (p.Glu464=)
c.1323A>G (p.Glu441=)
2g.202542426A>TCA350342995BMPR2c.1392A>T (p.Glu464Asp)
c.1323A>T (p.Glu441Asp)
2g.202542427G>ACA350342996BMPR2c.1393G>A (p.Ala465Thr)
c.1324G>A (p.Ala442Thr)
 dbSNP
2g.202542427G>CCA350342997BMPR2c.1393G>C (p.Ala465Pro)
c.1324G>C (p.Ala442Pro)
2g.202542427G=CA1321550644BMPR2c.1393G= (p.Ala465=)
c.1324G= (p.Ala442=)
2g.202542427G>TCA350342998BMPR2c.1393G>T (p.Ala465Ser)
c.1324G>T (p.Ala442Ser)
2g.202542428C>ACA350343001BMPR2c.1394C>A (p.Ala465Asp)
c.1325C>A (p.Ala442Asp)
2g.202542428C>GCA350343000BMPR2c.1394C>G (p.Ala465Gly)
c.1325C>G (p.Ala442Gly)
 gnomAD v4
2g.202542428C>TCA350342999BMPR2c.1394C>T (p.Ala465Val)
c.1325C>T (p.Ala442Val)
2g.202542429C>ACA430854794BMPR2c.1395C>A (p.Ala465=)
c.1326C>A (p.Ala442=)
2g.202542429C>GCA430854796BMPR2c.1395C>G (p.Ala465=)
c.1326C>G (p.Ala442=)
2g.202542429C>TCA430854799BMPR2c.1395C>T (p.Ala465=)
c.1326C>T (p.Ala442=)
 ClinVar gnomAD v4
2g.202542430T>ACA350343002BMPR2c.1396T>A (p.Trp466Arg)
c.1327T>A (p.Trp443Arg)
2g.202542430T>CCA350343003BMPR2c.1396T>C (p.Trp466Arg)
c.1327T>C (p.Trp443Arg)
2g.202542430T>GCA350343004BMPR2c.1396T>G (p.Trp466Gly)
c.1327T>G (p.Trp443Gly)
2g.202542431G>ACA350343005BMPR2c.1397G>A (p.Trp466Ter)
c.1328G>A (p.Trp443Ter)
 ClinVar dbSNP
2g.202542431G>CCA350343006BMPR2c.1397G>C (p.Trp466Ser)
c.1328G>C (p.Trp443Ser)
2g.202542431G=CA1321550645BMPR2c.1397G= (p.Trp466=)
c.1328G= (p.Trp443=)
2g.202542431G>TCA350343007BMPR2c.1397G>T (p.Trp466Leu)
c.1328G>T (p.Trp443Leu)
2g.202542432G>ACA16610567BMPR2c.1398G>A (p.Trp466Ter)
c.1329G>A (p.Trp443Ter)
 ClinVar dbSNP gnomAD v4
2g.202542432G>CCA350343008BMPR2c.1398G>C (p.Trp466Cys)
c.1329G>C (p.Trp443Cys)
2g.202542432G=CA1321550647BMPR2c.1398G= (p.Trp466=)
c.1329G= (p.Trp443=)
2g.202542432G>TCA350343009BMPR2c.1398G>T (p.Trp466Cys)
c.1329G>T (p.Trp443Cys)
2g.202542432_202542433delinsGACA1321550646BMPR2c.1398_1399delinsGA (p.Trp466=)
c.1329_1330delinsGA (p.Trp443=)
2g.202542433A>CCA350343010BMPR2c.1399A>C (p.Lys467Gln)
c.1330A>C (p.Lys444Gln)
2g.202542433A>GCA350343011BMPR2c.1399A>G (p.Lys467Glu)
c.1330A>G (p.Lys444Glu)
2g.202542433A>TCA350343012BMPR2c.1399A>T (p.Lys467Ter)
c.1330A>T (p.Lys444Ter)
2g.202542435delCA645293851BMPR2c.1401del (p.Glu468LysfsTer6)
c.1332del (p.Glu445LysfsTer6)
 ClinVar dbSNP
2g.202542434A>CCA350343015BMPR2c.1400A>C (p.Lys467Thr)
c.1331A>C (p.Lys444Thr)
2g.202542434A>GCA350343014BMPR2c.1400A>G (p.Lys467Arg)
c.1331A>G (p.Lys444Arg)
2g.202542434A>TCA350343013BMPR2c.1400A>T (p.Lys467Ile)
c.1331A>T (p.Lys444Ile)
2g.202542435A>CCA350343016BMPR2c.1401A>C (p.Lys467Asn)
c.1332A>C (p.Lys444Asn)
2g.202542435A>GCA430854838BMPR2c.1401A>G (p.Lys467=)
c.1332A>G (p.Lys444=)
 dbSNP gnomAD v4
2g.202542435A>TCA350343017BMPR2c.1401A>T (p.Lys467Asn)
c.1332A>T (p.Lys444Asn)
2g.202542436G>ACA350343018BMPR2c.1402G>A (p.Glu468Lys)
c.1333G>A (p.Glu445Lys)
 COSMIC
2g.202542436G>CCA350343019BMPR2c.1402G>C (p.Glu468Gln)
c.1333G>C (p.Glu445Gln)
2g.202542436G=CA1321550648BMPR2c.1402G= (p.Glu468=)
c.1333G= (p.Glu445=)
2g.202542436G>TCA350343020BMPR2c.1402G>T (p.Glu468Ter)
c.1333G>T (p.Glu445Ter)
 ClinVar dbSNP
2g.202542437A>CCA350343021BMPR2c.1403A>C (p.Glu468Ala)
c.1334A>C (p.Glu445Ala)
2g.202542437A>GCA350343022BMPR2c.1403A>G (p.Glu468Gly)
c.1334A>G (p.Glu445Gly)
2g.202542437A>TCA350343023BMPR2c.1403A>T (p.Glu468Val)
c.1334A>T (p.Glu445Val)
2g.202542440delCA2662706455BMPR2c.1406del (p.Asn469IlefsTer5)
c.1337del (p.Asn446IlefsTer5)
 gnomAD v4
2g.202542438A>CCA350343024BMPR2c.1404A>C (p.Glu468Asp)
c.1335A>C (p.Glu445Asp)
2g.202542438A>GCA430854865BMPR2c.1404A>G (p.Glu468=)
c.1335A>G (p.Glu445=)
2g.202542438A>TCA350343025BMPR2c.1404A>T (p.Glu468Asp)
c.1335A>T (p.Glu445Asp)
2g.202542439A>CCA350343026BMPR2c.1405A>C (p.Asn469His)
c.1336A>C (p.Asn446His)
2g.202542439A>GCA350343027BMPR2c.1405A>G (p.Asn469Asp)
c.1336A>G (p.Asn446Asp)
2g.202542439A>TCA350343028BMPR2c.1405A>T (p.Asn469Tyr)
c.1336A>T (p.Asn446Tyr)
2g.202542440A>CCA350343031BMPR2c.1406A>C (p.Asn469Thr)
c.1337A>C (p.Asn446Thr)
2g.202542440A>GCA350343029BMPR2c.1406A>G (p.Asn469Ser)
c.1337A>G (p.Asn446Ser)
2g.202542440A>TCA350343030BMPR2c.1406A>T (p.Asn469Ile)
c.1337A>T (p.Asn446Ile)
2g.202542441T>ACA350343032BMPR2c.1407T>A (p.Asn469Lys)
c.1338T>A (p.Asn446Lys)
2g.202542441T>CCA430854892BMPR2c.1407T>C (p.Asn469=)
c.1338T>C (p.Asn446=)
2g.202542441T>GCA350343033BMPR2c.1407T>G (p.Asn469Lys)
c.1338T>G (p.Asn446Lys)
2g.202542442A>CCA350343034BMPR2c.1408A>C (p.Ser470Arg)
c.1339A>C (p.Ser447Arg)
2g.202542442A>GCA350343035BMPR2c.1408A>G (p.Ser470Gly)
c.1339A>G (p.Ser447Gly)
2g.202542442A>TCA350343036BMPR2c.1408A>T (p.Ser470Cys)
c.1339A>T (p.Ser447Cys)
2g.202542443G>ACA350343037BMPR2c.1409G>A (p.Ser470Asn)
c.1340G>A (p.Ser447Asn)
 gnomAD v4
2g.202542443G>CCA350343038BMPR2c.1409G>C (p.Ser470Thr)
c.1340G>C (p.Ser447Thr)
2g.202542443G>TCA350343039BMPR2c.1409G>T (p.Ser470Ile)
c.1340G>T (p.Ser447Ile)
2g.202542444C>ACA350343040BMPR2c.1410C>A (p.Ser470Arg)
c.1341C>A (p.Ser447Arg)
2g.202542444C=CA1321550649BMPR2c.1410C= (p.Ser470=)
c.1341C= (p.Ser447=)
2g.202542444C>GCA350343041BMPR2c.1410C>G (p.Ser470Arg)
c.1341C>G (p.Ser447Arg)
2g.202542444C>TCA430854919BMPR2c.1410C>T (p.Ser470=)
c.1341C>T (p.Ser447=)
 dbSNP gnomAD v3 gnomAD v4
2g.202542445C>ACA350343042BMPR2c.1411C>A (p.Leu471Met)
c.1342C>A (p.Leu448Met)
2g.202542445C>GCA350343043BMPR2c.1411C>G (p.Leu471Val)
c.1342C>G (p.Leu448Val)
2g.202542445C>TCA430854926BMPR2c.1411C>T (p.Leu471=)
c.1342C>T (p.Leu448=)
2g.202542446T>ACA350343045BMPR2c.1412T>A (p.Leu471Gln)
c.1343T>A (p.Leu448Gln)
2g.202542446T>CCA350343046BMPR2c.1412T>C (p.Leu471Pro)
c.1343T>C (p.Leu448Pro)
2g.202542446T>GCA350343044BMPR2c.1412T>G (p.Leu471Arg)
c.1343T>G (p.Leu448Arg)
2g.202542447G>ACA430854935BMPR2c.1413G>A (p.Leu471=)
c.1344G>A (p.Leu448=)
2g.202542447G>CCA430854938BMPR2c.1413G>C (p.Leu471=)
c.1344G>C (p.Leu448=)
2g.202542447G>TCA430854941BMPR2c.1413G>T (p.Leu471=)
c.1344G>T (p.Leu448=)
2g.202542448G>ACA350343048BMPR2c.1413+1G>A (n.1413+1G>A)
c.1344+1G>A (n.1344+1G>A)
 ClinVar dbSNP
2g.202542448G>CCA350343047BMPR2c.1413+1G>C (n.1413+1G>C)
c.1344+1G>C (n.1344+1G>C)
2g.202542448G=CA1321550650BMPR2c.1413+1G= (n.1413+1G=)
c.1344+1G= (n.1344+1G=)
2g.202542448G>TCA350343049BMPR2c.1413+1G>T (n.1413+1G>T)
c.1344+1G>T (n.1344+1G>T)
2g.202542449T>ACA350343050BMPR2c.1413+2T>A (n.1413+2T>A)
c.1344+2T>A (n.1344+2T>A)
2g.202542449T>CCA350343052BMPR2c.1413+2T>C (n.1413+2T>C)
c.1344+2T>C (n.1344+2T>C)
2g.202542449T>GCA350343051BMPR2c.1413+2T>G (n.1413+2T>G)
c.1344+2T>G (n.1344+2T>G)
2g.202542450A=CA1321550651BMPR2c.1413+3A= (n.1413+3A=)
c.1344+3A= (n.1344+3A=)
2g.202542450A>TCA645293852BMPR2c.1413+3A>T (n.1413+3A>T)
c.1344+3A>T (n.1344+3A>T)
 ClinVar dbSNP
2g.202542453A=CA1321550652BMPR2c.1413+6A= (n.1413+6A=)
c.1344+6A= (n.1344+6A=)
2g.202542453A>GCA538977903BMPR2c.1413+6A>G (n.1413+6A>G)
c.1344+6A>G (n.1344+6A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.202542458dupCA2662706456BMPR2c.1413+11dup (n.1413+11dup)
c.1344+11dup (n.1344+11dup)
 gnomAD v4
2g.202542455A>GCA2662706457BMPR2c.1413+8A>G (n.1413+8A>G)
c.1344+8A>G (n.1344+8A>G)
 gnomAD v4
2g.202542457A=CA1321550653BMPR2c.1413+10A= (n.1413+10A=)
c.1344+10A= (n.1344+10A=)
2g.202542457A>TCA763443190BMPR2c.1413+10A>T (n.1413+10A>T)
c.1344+10A>T (n.1344+10A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.202542460T>CCA2662706458BMPR2c.1413+13T>C (n.1413+13T>C)
c.1344+13T>C (n.1344+13T>C)
 gnomAD v4
2g.202542461A=CA1321550654BMPR2c.1413+14A= (n.1413+14A=)
c.1344+14A= (n.1344+14A=)
2g.202542461A>GCA2061355BMPR2c.1413+14A>G (n.1413+14A>G)
c.1344+14A>G (n.1344+14A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202542461A>TCA2662706459BMPR2c.1413+14A>T (n.1413+14A>T)
c.1344+14A>T (n.1344+14A>T)
 gnomAD v4
2g.202542462A=CA1321550655BMPR2c.1413+15A= (n.1413+15A=)
c.1344+15A= (n.1344+15A=)
2g.202542462A>GCA538977904BMPR2c.1413+15A>G (n.1413+15A>G)
c.1344+15A>G (n.1344+15A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202542463G>ACA2577215709BMPR2c.1413+16G>A (n.1413+16G>A)
c.1344+16G>A (n.1344+16G>A)
2g.202542465T>CCA2662706460BMPR2c.1413+18T>C (n.1413+18T>C)
c.1344+18T>C (n.1344+18T>C)
 gnomAD v4
2g.202542467T>CCA538977987BMPR2c.1413+20T>C (n.1413+20T>C)
c.1344+20T>C (n.1344+20T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.202542467T=CA1321550656BMPR2c.1413+20T= (n.1413+20T=)
c.1344+20T= (n.1344+20T=)
2g.202542468T>CCA2662706461BMPR2c.1413+21T>C (n.1413+21T>C)
c.1344+21T>C (n.1344+21T>C)
 gnomAD v4
2g.202542468_202542472delinsTAAAGCA1321550657BMPR2c.1413+21_1413+25delinsTAAAG (n.1413+21_1413+25delinsTAAAG)
c.1344+21_1344+25delinsTAAAG (n.1344+21_1344+25delinsTAAAG)
2g.202542468_202542469insGTTCGTTCTCGCTAAGGTTGATAATCTGGTTAAGAATGGTCGCTTGAGTAAACTGATCGGTACAGTTGTTGGGCTCCTCAATATTCGTATGGTTGGGGAAGCAAGTGAAACGGGAACCTTGGAACTCCTCCCA2536529596BMPR2c.1413+21_1413+22insGTTCGTTCTCGCTAAGGTTGATAATCTGGTTAAGAATGGTCGCTTGAGTAAACTGATCGGTACAGTTGTTGGGCTCCTCAATATTCGTATGGTTGGGGAAGCAAGTGAAACGGGAACCTTGGAACTCCTCC (n.1413+21_1413+22insGTTCGTTCTCGCTAAGGTTGATAATCTGGTTAAGAATGGTCGCTTGAGTAAACTGATCGGTACAGTTGTTGGGCTCCTCAATATTCGTATGGTTGGGGAAGCAAGTGAAACGGGAACCTTGGAACTCCTCC)
c.1344+21_1344+22insGTTCGTTCTCGCTAAGGTTGATAATCTGGTTAAGAATGGTCGCTTGAGTAAACTGATCGGTACAGTTGTTGGGCTCCTCAATATTCGTATGGTTGGGGAAGCAAGTGAAACGGGAACCTTGGAACTCCTCC (n.1344+21_1344+22insGTTCGTTCTCGCTAAGGTTGATAATCTGGTTAAGAATGGTCGCTTGAGTAAACTGATCGGTACAGTTGTTGGGCTCCTCAATATTCGTATGGTTGGGGAAGCAAGTGAAACGGGAACCTTGGAACTCCTCC)
2g.202542469A=CA1321550658BMPR2c.1413+22A= (n.1413+22A=)
c.1344+22A= (n.1344+22A=)
2g.202542469A>GCA538977990BMPR2c.1413+22A>G (n.1413+22A>G)
c.1344+22A>G (n.1344+22A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202542469A>TCA64034697BMPR2c.1413+22A>T (n.1413+22A>T)
c.1344+22A>T (n.1344+22A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.202542471dupCA2577215711BMPR2c.1413+24dup (n.1413+24dup)
c.1344+24dup (n.1344+24dup)
2g.202542470_202542473delCA538977989BMPR2c.1413+23_1413+26del (n.1413+23_1413+26del)
c.1344+23_1344+26del (n.1344+23_1344+26del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202542470A>CCA2662706462BMPR2c.1413+23A>C (n.1413+23A>C)
c.1344+23A>C (n.1344+23A>C)
 gnomAD v4
2g.202542472G>ACA2577215713BMPR2c.1413+25G>A (n.1413+25G>A)
c.1344+25G>A (n.1344+25G>A)
2g.202542473A>GCA2577215714BMPR2c.1413+26A>G (n.1413+26A>G)
c.1344+26A>G (n.1344+26A>G)
2g.202542474G>CCA1321550660BMPR2c.1413+27G>C (n.1413+27G>C)
c.1344+27G>C (n.1344+27G>C)
 dbSNP
2g.202542474G=CA1321550659BMPR2c.1413+27G= (n.1413+27G=)
c.1344+27G= (n.1344+27G=)
2g.202542475A=CA1321550661BMPR2c.1413+28A= (n.1413+28A=)
c.1344+28A= (n.1344+28A=)
2g.202542475A>CCA1321550662BMPR2c.1413+28A>C (n.1413+28A>C)
c.1344+28A>C (n.1344+28A>C)
 dbSNP
2g.202542475A>GCA647681801BMPR2c.1413+28A>G (n.1413+28A>G)
c.1344+28A>G (n.1344+28A>G)
 COSMIC COSMIC
2g.202542476G>CCA538977992BMPR2c.1413+29G>C (n.1413+29G>C)
c.1344+29G>C (n.1344+29G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202542476G=CA1321550663BMPR2c.1413+29G= (n.1413+29G=)
c.1344+29G= (n.1344+29G=)

Number of alleles fetched