Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202532727_202542311delinsAGACA658822347BMPR2c.1271_1277delinsAGA
c.1202_1208delinsAGA
 ClinVar
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.202542288C=CA1321550574BMPR2c.1277-23C= (n.1277-23C=)
c.1208-23C= (n.1208-23C=)
2g.202542288C>TCA538977900BMPR2c.1277-23C>T (n.1277-23C>T)
c.1208-23C>T (n.1208-23C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.202542289A=CA1321550575BMPR2c.1277-22A= (n.1277-22A=)
c.1208-22A= (n.1208-22A=)
2g.202542289A>CCA2701353758BMPR2c.1277-22A>C (n.1277-22A>C)
c.1208-22A>C (n.1208-22A>C)
 dbSNP
2g.202542289A>GCA763442818BMPR2c.1277-22A>G (n.1277-22A>G)
c.1208-22A>G (n.1208-22A>G)
 dbSNP
2g.202542292C>ACA2577215696BMPR2c.1277-19C>A (n.1277-19C>A)
c.1208-19C>A (n.1208-19C>A)
2g.202542292C=CA1321550576BMPR2c.1277-19C= (n.1277-19C=)
c.1208-19C= (n.1208-19C=)
2g.202542292C>GCA1321550577BMPR2c.1277-19C>G (n.1277-19C>G)
c.1208-19C>G (n.1208-19C>G)
 dbSNP
2g.202542292C>TCA2662706450BMPR2c.1277-19C>T (n.1277-19C>T)
c.1208-19C>T (n.1208-19C>T)
 gnomAD v4
2g.202542294T>CCA538977901BMPR2c.1277-17T>C (n.1277-17T>C)
c.1208-17T>C (n.1208-17T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.202542294T=CA1321550578BMPR2c.1277-17T= (n.1277-17T=)
c.1208-17T= (n.1208-17T=)
2g.202542295T>CCA64034601BMPR2c.1277-16T>C (n.1277-16T>C)
c.1208-16T>C (n.1208-16T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.202542295T=CA1321550579BMPR2c.1277-16T= (n.1277-16T=)
c.1208-16T= (n.1208-16T=)
2g.202542297C=CA1321550580BMPR2c.1277-14C= (n.1277-14C=)
c.1208-14C= (n.1208-14C=)
2g.202542297C>GCA64034604BMPR2c.1277-14C>G (n.1277-14C>G)
c.1208-14C>G (n.1208-14C>G)
 dbSNP gnomAD v4
2g.202542297C>TCA2662706451BMPR2c.1277-14C>T (n.1277-14C>T)
c.1208-14C>T (n.1208-14C>T)
 gnomAD v4
2g.202542298T>ACA2662706452BMPR2c.1277-13T>A (n.1277-13T>A)
c.1208-13T>A (n.1208-13T>A)
 gnomAD v4
2g.202542299A=CA1321550581BMPR2c.1277-12A= (n.1277-12A=)
c.1208-12A= (n.1208-12A=)
2g.202542299A>GCA64034607BMPR2c.1277-12A>G (n.1277-12A>G)
c.1208-12A>G (n.1208-12A>G)
 dbSNP gnomAD v4
2g.202542301A=CA1321550582BMPR2c.1277-10A= (n.1277-10A=)
c.1208-10A= (n.1208-10A=)
2g.202542301_202542302insGGGCA10587993BMPR2c.1277-10_1277-9insGGG (n.1277-10_1277-9insGGG)
c.1208-10_1208-9insGGG (n.1208-10_1208-9insGGG)
 ClinVar dbSNP
2g.202542302A=CA1321550583BMPR2c.1277-9A= (n.1277-9A=)
c.1208-9A= (n.1208-9A=)
2g.202542302A>CCA645293837BMPR2c.1277-9A>C (n.1277-9A>C)
c.1208-9A>C (n.1208-9A>C)
 ClinVar dbSNP
2g.202542302A>GCA645293838BMPR2c.1277-9A>G (n.1277-9A>G)
c.1208-9A>G (n.1208-9A>G)
 ClinVar dbSNP
2g.202542303A=CA1321550584BMPR2c.1277-8A= (n.1277-8A=)
c.1208-8A= (n.1208-8A=)
2g.202542303A>GCA645293839BMPR2c.1277-8A>G (n.1277-8A>G)
c.1208-8A>G (n.1208-8A>G)
 ClinVar dbSNP
2g.202542304T>CCA2662706453BMPR2c.1277-7T>C (n.1277-7T>C)
c.1208-7T>C (n.1208-7T>C)
 gnomAD v4
2g.202542305C>GCA2662706454BMPR2c.1277-6C>G (n.1277-6C>G)
c.1208-6C>G (n.1208-6C>G)
 gnomAD v4
2g.202542305C>TCA2568496490BMPR2c.1277-6C>T (n.1277-6C>T)
c.1208-6C>T (n.1208-6C>T)
2g.202542307A=CA1321550585BMPR2c.1277-4A= (n.1277-4A=)
c.1208-4A= (n.1208-4A=)
2g.202542307A>CCA1321550586BMPR2c.1277-4A>C (n.1277-4A>C)
c.1208-4A>C (n.1208-4A>C)
 dbSNP
2g.202542307A>GCA2061342BMPR2c.1277-4A>G (n.1277-4A>G)
c.1208-4A>G (n.1208-4A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202542308C=CA1321550587BMPR2c.1277-3C= (n.1277-3C=)
c.1208-3C= (n.1208-3C=)
2g.202542308C>GCA2586971105BMPR2c.1277-3C>G (n.1277-3C>G)
c.1208-3C>G (n.1208-3C>G)
2g.202542308C>TCA538977902BMPR2c.1277-3C>T (n.1277-3C>T)
c.1208-3C>T (n.1208-3C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.202542309A=CA1321550588BMPR2c.1277-2A= (n.1277-2A=)
c.1208-2A= (n.1208-2A=)
2g.202542309A>CCA350342708BMPR2c.1277-2A>C (n.1277-2A>C)
c.1208-2A>C (n.1208-2A>C)
2g.202542309A>GCA350342709BMPR2c.1277-2A>G (n.1277-2A>G)
c.1208-2A>G (n.1208-2A>G)
 ClinVar dbSNP
2g.202542309A>TCA350342712BMPR2c.1277-2A>T (n.1277-2A>T)
c.1208-2A>T (n.1208-2A>T)
2g.202542309_202542310delinsAGCA1321550589BMPR2c.1277-2_1277-1delinsAG (n.1277-2_1277-1delinsAG)
c.1208-2_1208-1delinsAG (n.1208-2_1208-1delinsAG)
2g.202542310G>ACA350342714BMPR2c.1277-1G>A (n.1277-1G>A)
c.1208-1G>A (n.1208-1G>A)
 ClinVar
2g.202542310G>CCA350342716BMPR2c.1277-1G>C (n.1277-1G>C)
c.1208-1G>C (n.1208-1G>C)
2g.202542310G>TCA350342718BMPR2c.1277-1G>T (n.1277-1G>T)
c.1208-1G>T (n.1208-1G>T)
2g.202542313dupCA645532635BMPR2c.1279dup
c.1210dup
 COSMIC COSMIC
2g.202542313delCA645293840BMPR2c.1279del
c.1210del
 ClinVar dbSNP
2g.202542311G>ACA350342720BMPR2c.1277G>A (p.Gly426Glu)
c.1208G>A (p.Gly403Glu)
2g.202542311G>CCA350342724BMPR2c.1277G>C (p.Gly426Ala)
c.1208G>C (p.Gly403Ala)
2g.202542311G>TCA350342721BMPR2c.1277G>T (p.Gly426Val)
c.1208G>T (p.Gly403Val)
2g.202542312G>ACA64034634BMPR2c.1278G>A (p.Gly426=)
c.1209G>A (p.Gly403=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.202542312G>CCA430853841BMPR2c.1278G>C (p.Gly426=)
c.1209G>C (p.Gly403=)
2g.202542312G=CA1321550590BMPR2c.1278G= (p.Gly426=)
c.1209G= (p.Gly403=)
2g.202542312G>TCA430853848BMPR2c.1278G>T (p.Gly426=)
c.1209G>T (p.Gly403=)
2g.202542313G>ACA350342726BMPR2c.1279G>A (p.Glu427Lys)
c.1210G>A (p.Glu404Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.202542313G>CCA350342728BMPR2c.1279G>C (p.Glu427Gln)
c.1210G>C (p.Glu404Gln)
2g.202542313G=CA1321550591BMPR2c.1279G= (p.Glu427=)
c.1210G= (p.Glu404=)
2g.202542313G>TCA350342730BMPR2c.1279G>T (p.Glu427Ter)
c.1210G>T (p.Glu404Ter)
2g.202542314A>CCA350342732BMPR2c.1280A>C (p.Glu427Ala)
c.1211A>C (p.Glu404Ala)
2g.202542314A>GCA350342734BMPR2c.1280A>G (p.Glu427Gly)
c.1211A>G (p.Glu404Gly)
2g.202542314A>TCA350342736BMPR2c.1280A>T (p.Glu427Val)
c.1211A>T (p.Glu404Val)
2g.202542315A=CA1321550592BMPR2c.1281A= (p.Glu427=)
c.1212A= (p.Glu404=)
2g.202542315A>CCA350342738BMPR2c.1281A>C (p.Glu427Asp)
c.1212A>C (p.Glu404Asp)
2g.202542315A>GCA430853873BMPR2c.1281A>G (p.Glu427=)
c.1212A>G (p.Glu404=)
2g.202542315A>TCA2061343BMPR2c.1281A>T (p.Glu427Asp)
c.1212A>T (p.Glu404Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202542316T>ACA350342739BMPR2c.1282T>A (p.Ser428Thr)
c.1213T>A (p.Ser405Thr)
2g.202542316T>CCA350342741BMPR2c.1282T>C (p.Ser428Pro)
c.1213T>C (p.Ser405Pro)
2g.202542316T>GCA350342743BMPR2c.1282T>G (p.Ser428Ala)
c.1213T>G (p.Ser405Ala)
2g.202542317C>ACA350342745BMPR2c.1283C>A (p.Ser428Tyr)
c.1214C>A (p.Ser405Tyr)
 COSMIC
2g.202542317C>GCA350342747BMPR2c.1283C>G (p.Ser428Cys)
c.1214C>G (p.Ser405Cys)
2g.202542317C>TCA350342746BMPR2c.1283C>T (p.Ser428Phe)
c.1214C>T (p.Ser405Phe)
2g.202542318C>ACA430853899BMPR2c.1284C>A (p.Ser428=)
c.1215C>A (p.Ser405=)
 gnomAD v4
2g.202542318C=CA1321550594BMPR2c.1284C= (p.Ser428=)
c.1215C= (p.Ser405=)
2g.202542318C>GCA430853902BMPR2c.1284C>G (p.Ser428=)
c.1215C>G (p.Ser405=)
 ClinVar dbSNP gnomAD v4
2g.202542318C>TCA2061344BMPR2c.1284C>T (p.Ser428=)
c.1215C>T (p.Ser405=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202542318_202542326delinsCGTACCAGACA1321550593BMPR2c.1284_1292delinsCGTACCAGA (p.Ser428=)
c.1215_1223delinsCGTACCAGA (p.Ser405=)
2g.202542319G>ACA2061345BMPR2c.1285G>A (p.Val429Ile)
c.1216G>A (p.Val406Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202542319G>CCA350342748BMPR2c.1285G>C (p.Val429Leu)
c.1216G>C (p.Val406Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.202542319G=CA1321550595BMPR2c.1285G= (p.Val429=)
c.1216G= (p.Val406=)
2g.202542319G>TCA350342749BMPR2c.1285G>T (p.Val429Leu)
c.1216G>T (p.Val406Leu)
 gnomAD v4 COSMIC
2g.202542319_202542320insGATTGCA2582342052BMPR2c.1285_1286insGATTG (p.Val429GlyfsTer?)
c.1216_1217insGATTG (p.Val406GlyfsTer?)
 ClinVar
2g.202542327_202542334delCA645293841BMPR2c.1293_1300del (p.Glu431AspfsTer14)
c.1224_1231del (p.Glu408AspfsTer14)
 ClinVar dbSNP
2g.202542319_202542343delinsGTACCAGAGTACCAGATGGCTTTTCCA1321550596BMPR2c.1285_1309delinsGTACCAGAGTACCAGATGGCTTTTC (p.Val429=)
c.1216_1240delinsGTACCAGAGTACCAGATGGCTTTTC (p.Val406=)
2g.202542319_202542320insGGATTCA645293842BMPR2c.1285_1286insGGATT (p.Val429GlyfsTer?)
c.1216_1217insGGATT (p.Val406GlyfsTer?)
 ClinVar dbSNP
2g.202542320T>ACA350342750BMPR2c.1286T>A (p.Val429Glu)
c.1217T>A (p.Val406Glu)
2g.202542320T>CCA350342751BMPR2c.1286T>C (p.Val429Ala)
c.1217T>C (p.Val406Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.202542320T>GCA350342752BMPR2c.1286T>G (p.Val429Gly)
c.1217T>G (p.Val406Gly)
2g.202542320T=CA1321550598BMPR2c.1286T= (p.Val429=)
c.1217T= (p.Val406=)
2g.202542320_202542343delCA1321550597BMPR2c.1286_1309del (p.Val429_Gln437delinsGlu)
c.1217_1240del (p.Val406_Gln414delinsGlu)
 ClinVar dbSNP
2g.202542321A>CCA430853921BMPR2c.1287A>C (p.Val429=)
c.1218A>C (p.Val406=)
2g.202542321A>GCA430853924BMPR2c.1287A>G (p.Val429=)
c.1218A>G (p.Val406=)
2g.202542321A>TCA430853927BMPR2c.1287A>T (p.Val429=)
c.1218A>T (p.Val406=)
2g.202542322C>ACA350342753BMPR2c.1288C>A (p.Pro430Thr)
c.1219C>A (p.Pro407Thr)
2g.202542322C>GCA350342754BMPR2c.1288C>G (p.Pro430Ala)
c.1219C>G (p.Pro407Ala)
2g.202542322C>TCA350342755BMPR2c.1288C>T (p.Pro430Ser)
c.1219C>T (p.Pro407Ser)
2g.202542323C>ACA350342756BMPR2c.1289C>A (p.Pro430Gln)
c.1220C>A (p.Pro407Gln)
2g.202542323C>GCA350342757BMPR2c.1289C>G (p.Pro430Arg)
c.1220C>G (p.Pro407Arg)
2g.202542323C>TCA350342758BMPR2c.1289C>T (p.Pro430Leu)
c.1220C>T (p.Pro407Leu)
 gnomAD v4
2g.202542324A>CCA430853941BMPR2c.1290A>C (p.Pro430=)
c.1221A>C (p.Pro407=)
2g.202542324A>GCA430853956BMPR2c.1290A>G (p.Pro430=)
c.1221A>G (p.Pro407=)
2g.202542324A>TCA430853961BMPR2c.1290A>T (p.Pro430=)
c.1221A>T (p.Pro407=)
2g.202542325G>ACA350342761BMPR2c.1291G>A (p.Glu431Lys)
c.1222G>A (p.Glu408Lys)
2g.202542325G>CCA350342760BMPR2c.1291G>C (p.Glu431Gln)
c.1222G>C (p.Glu408Gln)
2g.202542325G>TCA350342759BMPR2c.1291G>T (p.Glu431Ter)
c.1222G>T (p.Glu408Ter)
2g.202542326A=CA1321550599BMPR2c.1292A= (p.Glu431=)
c.1223A= (p.Glu408=)
2g.202542326A>CCA350342762BMPR2c.1292A>C (p.Glu431Ala)
c.1223A>C (p.Glu408Ala)
2g.202542326A>GCA350342763BMPR2c.1292A>G (p.Glu431Gly)
c.1223A>G (p.Glu408Gly)
 dbSNP gnomAD v4
2g.202542326A>TCA350342764BMPR2c.1292A>T (p.Glu431Val)
c.1223A>T (p.Glu408Val)
2g.202542327G>ACA2061346BMPR2c.1293G>A (p.Glu431=)
c.1224G>A (p.Glu408=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202542327G>CCA350342765BMPR2c.1293G>C (p.Glu431Asp)
c.1224G>C (p.Glu408Asp)
2g.202542327G=CA1321550600BMPR2c.1293G= (p.Glu431=)
c.1224G= (p.Glu408=)
2g.202542327G>TCA350342766BMPR2c.1293G>T (p.Glu431Asp)
c.1224G>T (p.Glu408Asp)
2g.202542328T>ACA350342767BMPR2c.1294T>A (p.Tyr432Asn)
c.1225T>A (p.Tyr409Asn)
2g.202542328T>CCA350342768BMPR2c.1294T>C (p.Tyr432His)
c.1225T>C (p.Tyr409His)
2g.202542328T>GCA350342769BMPR2c.1294T>G (p.Tyr432Asp)
c.1225T>G (p.Tyr409Asp)
2g.202542329A=CA1321550601BMPR2c.1295A= (p.Tyr432=)
c.1226A= (p.Tyr409=)
2g.202542329A>CCA350342770BMPR2c.1295A>C (p.Tyr432Ser)
c.1226A>C (p.Tyr409Ser)
2g.202542329A>GCA350342771BMPR2c.1295A>G (p.Tyr432Cys)
c.1226A>G (p.Tyr409Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.202542329A>TCA350342772BMPR2c.1295A>T (p.Tyr432Phe)
c.1226A>T (p.Tyr409Phe)
2g.202542330C>ACA350342774BMPR2c.1296C>A (p.Tyr432Ter)
c.1227C>A (p.Tyr409Ter)
2g.202542330C=CA1321550602BMPR2c.1296C= (p.Tyr432=)
c.1227C= (p.Tyr409=)
2g.202542330C>GCA350342773BMPR2c.1296C>G (p.Tyr432Ter)
c.1227C>G (p.Tyr409Ter)
 ClinVar dbSNP
2g.202542330C>TCA430854000BMPR2c.1296C>T (p.Tyr432=)
c.1227C>T (p.Tyr409=)
2g.202542331C>ACA350342775BMPR2c.1297C>A (p.Gln433Lys)
c.1228C>A (p.Gln410Lys)
2g.202542331C=CA1321550603BMPR2c.1297C= (p.Gln433=)
c.1228C= (p.Gln410=)
2g.202542331C>GCA350342776BMPR2c.1297C>G (p.Gln433Glu)
c.1228C>G (p.Gln410Glu)
2g.202542331C>TCA119941BMPR2c.1297C>T (p.Gln433Ter)
c.1228C>T (p.Gln410Ter)
 ClinVar dbSNP
2g.202542332A>CCA350342777BMPR2c.1298A>C (p.Gln433Pro)
c.1229A>C (p.Gln410Pro)
2g.202542332A>GCA350342778BMPR2c.1298A>G (p.Gln433Arg)
c.1229A>G (p.Gln410Arg)
2g.202542332A>TCA350342779BMPR2c.1298A>T (p.Gln433Leu)
c.1229A>T (p.Gln410Leu)
2g.202542333G>ACA430854021BMPR2c.1299G>A (p.Gln433=)
c.1230G>A (p.Gln410=)
2g.202542333G>CCA350342781BMPR2c.1299G>C (p.Gln433His)
c.1230G>C (p.Gln410His)
2g.202542333G>TCA350342780BMPR2c.1299G>T (p.Gln433His)
c.1230G>T (p.Gln410His)
2g.202542334A=CA1321550604BMPR2c.1300A= (p.Met434=)
c.1231A= (p.Met411=)
2g.202542334A>CCA350342782BMPR2c.1300A>C (p.Met434Leu)
c.1231A>C (p.Met411Leu)
 dbSNP
2g.202542334A>GCA350342783BMPR2c.1300A>G (p.Met434Val)
c.1231A>G (p.Met411Val)
2g.202542334A>TCA350342784BMPR2c.1300A>T (p.Met434Leu)
c.1231A>T (p.Met411Leu)
2g.202542335T>ACA350342785BMPR2c.1301T>A (p.Met434Lys)
c.1232T>A (p.Met411Lys)
2g.202542335T>CCA2061347BMPR2c.1301T>C (p.Met434Thr)
c.1232T>C (p.Met411Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202542335T>GCA350342786BMPR2c.1301T>G (p.Met434Arg)
c.1232T>G (p.Met411Arg)
2g.202542335T=CA1321550605BMPR2c.1301T= (p.Met434=)
c.1232T= (p.Met411=)
2g.202542336G>ACA2061348BMPR2c.1302G>A (p.Met434Ile)
c.1233G>A (p.Met411Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202542336G>CCA350342788BMPR2c.1302G>C (p.Met434Ile)
c.1233G>C (p.Met411Ile)
2g.202542336G=CA1321550606BMPR2c.1302G= (p.Met434=)
c.1233G= (p.Met411=)
2g.202542336G>TCA350342787BMPR2c.1302G>T (p.Met434Ile)
c.1233G>T (p.Met411Ile)
 gnomAD v4
2g.202542337G>ACA350342789BMPR2c.1303G>A (p.Ala435Thr)
c.1234G>A (p.Ala412Thr)
2g.202542337G>CCA350342790BMPR2c.1303G>C (p.Ala435Pro)
c.1234G>C (p.Ala412Pro)
2g.202542337G>TCA350342791BMPR2c.1303G>T (p.Ala435Ser)
c.1234G>T (p.Ala412Ser)
2g.202542338C>ACA350342792BMPR2c.1304C>A (p.Ala435Asp)
c.1235C>A (p.Ala412Asp)
2g.202542338C>GCA350342793BMPR2c.1304C>G (p.Ala435Gly)
c.1235C>G (p.Ala412Gly)
2g.202542338C>TCA350342794BMPR2c.1304C>T (p.Ala435Val)
c.1235C>T (p.Ala412Val)
2g.202542339T>ACA430854076BMPR2c.1305T>A (p.Ala435=)
c.1236T>A (p.Ala412=)
2g.202542339T>CCA430854079BMPR2c.1305T>C (p.Ala435=)
c.1236T>C (p.Ala412=)
2g.202542339T>GCA430854081BMPR2c.1305T>G (p.Ala435=)
c.1236T>G (p.Ala412=)
2g.202542339_202542341delinsGCA2586971106BMPR2c.1305_1307delinsG (p.Phe436SerfsTer11)
c.1236_1238delinsG (p.Phe413SerfsTer11)
2g.202542340T>ACA350342795BMPR2c.1306T>A (p.Phe436Ile)
c.1237T>A (p.Phe413Ile)
2g.202542340T>CCA350342796BMPR2c.1306T>C (p.Phe436Leu)
c.1237T>C (p.Phe413Leu)
2g.202542340T>GCA350342797BMPR2c.1306T>G (p.Phe436Val)
c.1237T>G (p.Phe413Val)
2g.202542341T>ACA350342798BMPR2c.1307T>A (p.Phe436Tyr)
c.1238T>A (p.Phe413Tyr)
2g.202542341T>CCA350342799BMPR2c.1307T>C (p.Phe436Ser)
c.1238T>C (p.Phe413Ser)
2g.202542341T>GCA350342800BMPR2c.1307T>G (p.Phe436Cys)
c.1238T>G (p.Phe413Cys)
2g.202542342T>ACA350342801BMPR2c.1308T>A (p.Phe436Leu)
c.1239T>A (p.Phe413Leu)
2g.202542342T>CCA430854101BMPR2c.1308T>C (p.Phe436=)
c.1239T>C (p.Phe413=)
2g.202542342T>GCA350342802BMPR2c.1308T>G (p.Phe436Leu)
c.1239T>G (p.Phe413Leu)
2g.202542342_202542346delinsTCAGACA1321550607BMPR2c.1308_1312delinsTCAGA (p.Phe436=)
c.1239_1243delinsTCAGA (p.Phe413=)
2g.202542343C>ACA350342803BMPR2c.1309C>A (p.Gln437Lys)
c.1240C>A (p.Gln414Lys)
2g.202542343C>GCA350342804BMPR2c.1309C>G (p.Gln437Glu)
c.1240C>G (p.Gln414Glu)
2g.202542343C>TCA350342805BMPR2c.1309C>T (p.Gln437Ter)
c.1240C>T (p.Gln414Ter)
2g.202542347_202542350delCA645293843BMPR2c.1313_1316del (p.Thr438ArgfsTer?)
c.1244_1247del (p.Thr415ArgfsTer?)
 ClinVar dbSNP
2g.202542344A>CCA350342806BMPR2c.1310A>C (p.Gln437Pro)
c.1241A>C (p.Gln414Pro)
2g.202542344A>GCA350342807BMPR2c.1310A>G (p.Gln437Arg)
c.1241A>G (p.Gln414Arg)
2g.202542344A>TCA350342808BMPR2c.1310A>T (p.Gln437Leu)
c.1241A>T (p.Gln414Leu)
2g.202542345G>ACA430854130BMPR2c.1311G>A (p.Gln437=)
c.1242G>A (p.Gln414=)
 COSMIC
2g.202542345G>CCA350342809BMPR2c.1311G>C (p.Gln437His)
c.1242G>C (p.Gln414His)
2g.202542345G>TCA350342810BMPR2c.1311G>T (p.Gln437His)
c.1242G>T (p.Gln414His)
2g.202542346A>CCA350342811BMPR2c.1312A>C (p.Thr438Pro)
c.1243A>C (p.Thr415Pro)
2g.202542346A>GCA350342812BMPR2c.1312A>G (p.Thr438Ala)
c.1243A>G (p.Thr415Ala)
2g.202542346A>TCA350342813BMPR2c.1312A>T (p.Thr438Ser)
c.1243A>T (p.Thr415Ser)
2g.202542347C>ACA350342814BMPR2c.1313C>A (p.Thr438Lys)
c.1244C>A (p.Thr415Lys)
2g.202542347C>GCA350342815BMPR2c.1313C>G (p.Thr438Arg)
c.1244C>G (p.Thr415Arg)
2g.202542347C>TCA350342816BMPR2c.1313C>T (p.Thr438Ile)
c.1244C>T (p.Thr415Ile)
2g.202542348A>CCA430854157BMPR2c.1314A>C (p.Thr438=)
c.1245A>C (p.Thr415=)
2g.202542348A>GCA430854160BMPR2c.1314A>G (p.Thr438=)
c.1245A>G (p.Thr415=)
 gnomAD v4
2g.202542348A>TCA430854161BMPR2c.1314A>T (p.Thr438=)
c.1245A>T (p.Thr415=)
2g.202542350_202542351delCA645532636BMPR2c.1316_1317del (p.Glu439GlyfsTer8)
c.1247_1248del (p.Glu416GlyfsTer8)
 ClinVar COSMIC
2g.202542349G>ACA2061349BMPR2c.1315G>A (p.Glu439Lys)
c.1246G>A (p.Glu416Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202542349G>CCA350342818BMPR2c.1315G>C (p.Glu439Gln)
c.1246G>C (p.Glu416Gln)
2g.202542349G=CA1321550608BMPR2c.1315G= (p.Glu439=)
c.1246G= (p.Glu416=)
2g.202542349G>TCA350342817BMPR2c.1315G>T (p.Glu439Ter)
c.1246G>T (p.Glu416Ter)
2g.202542350A=CA1321550609BMPR2c.1316A= (p.Glu439=)
c.1247A= (p.Glu416=)
2g.202542350A>CCA350342819BMPR2c.1316A>C (p.Glu439Ala)
c.1247A>C (p.Glu416Ala)
2g.202542350A>GCA350342820BMPR2c.1316A>G (p.Glu439Gly)
c.1247A>G (p.Glu416Gly)
2g.202542350A>TCA350342821BMPR2c.1316A>T (p.Glu439Val)
c.1247A>T (p.Glu416Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202542351G>ACA2061350BMPR2c.1317G>A (p.Glu439=)
c.1248G>A (p.Glu416=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202542351G>CCA350342822BMPR2c.1317G>C (p.Glu439Asp)
c.1248G>C (p.Glu416Asp)
2g.202542351G=CA1321550610BMPR2c.1317G= (p.Glu439=)
c.1248G= (p.Glu416=)
2g.202542351G>TCA350342823BMPR2c.1317G>T (p.Glu439Asp)
c.1248G>T (p.Glu416Asp)
 dbSNP
2g.202542352G>ACA64034672BMPR2c.1318G>A (p.Val440Ile)
c.1249G>A (p.Val417Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.202542352G>CCA350342824BMPR2c.1318G>C (p.Val440Leu)
c.1249G>C (p.Val417Leu)
2g.202542352G=CA1321550611BMPR2c.1318G= (p.Val440=)
c.1249G= (p.Val417=)
2g.202542352G>TCA350342825BMPR2c.1318G>T (p.Val440Phe)
c.1249G>T (p.Val417Phe)
2g.202542353T>ACA350342826BMPR2c.1319T>A (p.Val440Asp)
c.1250T>A (p.Val417Asp)
2g.202542353T>CCA350342827BMPR2c.1319T>C (p.Val440Ala)
c.1250T>C (p.Val417Ala)
2g.202542353T>GCA350342828BMPR2c.1319T>G (p.Val440Gly)
c.1250T>G (p.Val417Gly)
2g.202542354T>ACA430854189BMPR2c.1320T>A (p.Val440=)
c.1251T>A (p.Val417=)
2g.202542354T>CCA430854188BMPR2c.1320T>C (p.Val440=)
c.1251T>C (p.Val417=)
2g.202542354T>GCA430854186BMPR2c.1320T>G (p.Val440=)
c.1251T>G (p.Val417=)
2g.202542355G>ACA350342829BMPR2c.1321G>A (p.Gly441Arg)
c.1252G>A (p.Gly418Arg)
2g.202542355G>CCA350342830BMPR2c.1321G>C (p.Gly441Arg)
c.1252G>C (p.Gly418Arg)
2g.202542355G>TCA350342831BMPR2c.1321G>T (p.Gly441Ter)
c.1252G>T (p.Gly418Ter)
2g.202542356G>ACA350342833BMPR2c.1322G>A (p.Gly441Glu)
c.1253G>A (p.Gly418Glu)
2g.202542356G>CCA350342834BMPR2c.1322G>C (p.Gly441Ala)
c.1253G>C (p.Gly418Ala)
2g.202542356G>TCA350342832BMPR2c.1322G>T (p.Gly441Val)
c.1253G>T (p.Gly418Val)
2g.202542357A>CCA430854207BMPR2c.1323A>C (p.Gly441=)
c.1254A>C (p.Gly418=)
2g.202542357A>GCA430854209BMPR2c.1323A>G (p.Gly441=)
c.1254A>G (p.Gly418=)
2g.202542357A>TCA430854212BMPR2c.1323A>T (p.Gly441=)
c.1254A>T (p.Gly418=)
2g.202542359delCA430854217BMPR2c.1325del (p.Asn442ThrfsTer?)
c.1256del (p.Asn419ThrfsTer?)
 COSMIC
2g.202542358A=CA1321550612BMPR2c.1324A= (p.Asn442=)
c.1255A= (p.Asn419=)
2g.202542358A>CCA64034675BMPR2c.1324A>C (p.Asn442His)
c.1255A>C (p.Asn419His)
 dbSNP
2g.202542358A>GCA350342835BMPR2c.1324A>G (p.Asn442Asp)
c.1255A>G (p.Asn419Asp)
2g.202542358A>TCA350342836BMPR2c.1324A>T (p.Asn442Tyr)
c.1255A>T (p.Asn419Tyr)
2g.202542359A>CCA350342837BMPR2c.1325A>C (p.Asn442Thr)
c.1256A>C (p.Asn419Thr)
2g.202542359A>GCA350342838BMPR2c.1325A>G (p.Asn442Ser)
c.1256A>G (p.Asn419Ser)
 dbSNP gnomAD v4
2g.202542359A>TCA350342839BMPR2c.1325A>T (p.Asn442Ile)
c.1256A>T (p.Asn419Ile)
 gnomAD v4
2g.202542360C>ACA350342840BMPR2c.1326C>A (p.Asn442Lys)
c.1257C>A (p.Asn419Lys)
2g.202542360C>GCA350342841BMPR2c.1326C>G (p.Asn442Lys)
c.1257C>G (p.Asn419Lys)
2g.202542360C>TCA430854243BMPR2c.1326C>T (p.Asn442=)
c.1257C>T (p.Asn419=)
2g.202542361C>ACA350342842BMPR2c.1327C>A (p.His443Asn)
c.1258C>A (p.His420Asn)
2g.202542361C>GCA350342843BMPR2c.1327C>G (p.His443Asp)
c.1258C>G (p.His420Asp)
2g.202542361C>TCA350342844BMPR2c.1327C>T (p.His443Tyr)
c.1258C>T (p.His420Tyr)
2g.202542362A>CCA350342845BMPR2c.1328A>C (p.His443Pro)
c.1259A>C (p.His420Pro)
2g.202542362A>GCA350342846BMPR2c.1328A>G (p.His443Arg)
c.1259A>G (p.His420Arg)
 gnomAD v4
2g.202542362A>TCA350342847BMPR2c.1328A>T (p.His443Leu)
c.1259A>T (p.His420Leu)
2g.202542363T>ACA350342848BMPR2c.1329T>A (p.His443Gln)
c.1260T>A (p.His420Gln)
2g.202542363T>CCA430854267BMPR2c.1329T>C (p.His443=)
c.1260T>C (p.His420=)
2g.202542363T>GCA350342849BMPR2c.1329T>G (p.His443Gln)
c.1260T>G (p.His420Gln)
2g.202542364C>ACA350342850BMPR2c.1330C>A (p.Pro444Thr)
c.1261C>A (p.Pro421Thr)
2g.202542364C>GCA350342851BMPR2c.1330C>G (p.Pro444Ala)
c.1261C>G (p.Pro421Ala)
2g.202542364C>TCA350342852BMPR2c.1330C>T (p.Pro444Ser)
c.1261C>T (p.Pro421Ser)
 COSMIC
2g.202542366dupCA2573134356BMPR2c.1332dup (p.Thr445HisfsTer3)
c.1263dup (p.Thr422HisfsTer3)
 ClinVar dbSNP
2g.202542365C>ACA350342853BMPR2c.1331C>A (p.Pro444His)
c.1262C>A (p.Pro421His)
 dbSNP gnomAD v3 gnomAD v4
2g.202542365C=CA1321550613BMPR2c.1331C= (p.Pro444=)
c.1262C= (p.Pro421=)
2g.202542365C>GCA350342854BMPR2c.1331C>G (p.Pro444Arg)
c.1262C>G (p.Pro421Arg)
2g.202542365C>TCA350342855BMPR2c.1331C>T (p.Pro444Leu)
c.1262C>T (p.Pro421Leu)
2g.202542366C>ACA430854286BMPR2c.1332C>A (p.Pro444=)
c.1263C>A (p.Pro421=)
2g.202542366C>GCA430854289BMPR2c.1332C>G (p.Pro444=)
c.1263C>G (p.Pro421=)
2g.202542366C>TCA430854293BMPR2c.1332C>T (p.Pro444=)
c.1263C>T (p.Pro421=)
 gnomAD v4
2g.202542367A>CCA350342856BMPR2c.1333A>C (p.Thr445Pro)
c.1264A>C (p.Thr422Pro)
2g.202542367A>GCA350342857BMPR2c.1333A>G (p.Thr445Ala)
c.1264A>G (p.Thr422Ala)
2g.202542367A>TCA350342858BMPR2c.1333A>T (p.Thr445Ser)
c.1264A>T (p.Thr422Ser)
 gnomAD v4
2g.202542368C>ACA350342859BMPR2c.1334C>A (p.Thr445Asn)
c.1265C>A (p.Thr422Asn)
2g.202542368C>GCA350342860BMPR2c.1334C>G (p.Thr445Ser)
c.1265C>G (p.Thr422Ser)
2g.202542368C>TCA350342861BMPR2c.1334C>T (p.Thr445Ile)
c.1265C>T (p.Thr422Ile)
2g.202542369T>ACA430854315BMPR2c.1335T>A (p.Thr445=)
c.1266T>A (p.Thr422=)
2g.202542369T>CCA430854316BMPR2c.1335T>C (p.Thr445=)
c.1266T>C (p.Thr422=)
2g.202542369T>GCA430854312BMPR2c.1335T>G (p.Thr445=)
c.1266T>G (p.Thr422=)
2g.202542370T>ACA350342862BMPR2c.1336T>A (p.Phe446Ile)
c.1267T>A (p.Phe423Ile)
2g.202542370T>CCA350342864BMPR2c.1336T>C (p.Phe446Leu)
c.1267T>C (p.Phe423Leu)
2g.202542370T>GCA350342863BMPR2c.1336T>G (p.Phe446Val)
c.1267T>G (p.Phe423Val)
2g.202542371T>ACA350342865BMPR2c.1337T>A (p.Phe446Tyr)
c.1268T>A (p.Phe423Tyr)
2g.202542371T>CCA350342866BMPR2c.1337T>C (p.Phe446Ser)
c.1268T>C (p.Phe423Ser)
2g.202542371T>GCA350342867BMPR2c.1337T>G (p.Phe446Cys)
c.1268T>G (p.Phe423Cys)
2g.202542372T>ACA350342868BMPR2c.1338T>A (p.Phe446Leu)
c.1269T>A (p.Phe423Leu)
2g.202542372T>CCA430854336BMPR2c.1338T>C (p.Phe446=)
c.1269T>C (p.Phe423=)
2g.202542372T>GCA350342869BMPR2c.1338T>G (p.Phe446Leu)
c.1269T>G (p.Phe423Leu)
2g.202542373G>ACA350342870BMPR2c.1339G>A (p.Glu447Lys)
c.1270G>A (p.Glu424Lys)
 gnomAD v4
2g.202542373G>CCA350342871BMPR2c.1339G>C (p.Glu447Gln)
c.1270G>C (p.Glu424Gln)
2g.202542373G>TCA350342872BMPR2c.1339G>T (p.Glu447Ter)
c.1270G>T (p.Glu424Ter)
2g.202542374A>CCA350342873BMPR2c.1340A>C (p.Glu447Ala)
c.1271A>C (p.Glu424Ala)
2g.202542374A>GCA350342874BMPR2c.1340A>G (p.Glu447Gly)
c.1271A>G (p.Glu424Gly)
2g.202542374A>TCA350342875BMPR2c.1340A>T (p.Glu447Val)
c.1271A>T (p.Glu424Val)
2g.202542374_202542375delinsAGCA1321550614BMPR2c.1340_1341delinsAG (p.Glu447=)
c.1271_1272delinsAG (p.Glu424=)
2g.202542375G>ACA430854352BMPR2c.1341G>A (p.Glu447=)
c.1272G>A (p.Glu424=)
2g.202542375G>CCA350342876BMPR2c.1341G>C (p.Glu447Asp)
c.1272G>C (p.Glu424Asp)
2g.202542375G>TCA350342877BMPR2c.1341G>T (p.Glu447Asp)
c.1272G>T (p.Glu424Asp)
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

Number of alleles fetched