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.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.202542320_202542343delCA1321550597BMPR2c.1286_1309del (p.Val429_Gln437delinsGlu)
c.1217_1240del (p.Val406_Gln414delinsGlu)
ClinVar dbSNP
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
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)

Number of alleles fetched