Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202547085_202553904delCA915941655BMPR2c.1413+4638_1586+1016del
c.1344+4638_1517+1016del
 ClinVar
2g.202552714A=CA1321556380BMPR2c.1414-2A= (n.1414-2A=)
c.1345-2A= (n.1345-2A=)
2g.202552714A>CCA350344397BMPR2c.1414-2A>C (n.1414-2A>C)
c.1345-2A>C (n.1345-2A>C)
2g.202552714A>GCA350344398BMPR2c.1414-2A>G (n.1414-2A>G)
c.1345-2A>G (n.1345-2A>G)
2g.202552714A>TCA350344399BMPR2c.1414-2A>T (n.1414-2A>T)
c.1345-2A>T (n.1345-2A>T)
 ClinVar dbSNP
2g.202552715G>ACA350344400BMPR2c.1414-1G>A (n.1414-1G>A)
c.1345-1G>A (n.1345-1G>A)
2g.202552715G>CCA350344402BMPR2c.1414-1G>C (n.1414-1G>C)
c.1345-1G>C (n.1345-1G>C)
2g.202552715G>TCA350344401BMPR2c.1414-1G>T (n.1414-1G>T)
c.1345-1G>T (n.1345-1G>T)
2g.202552716G>ACA2061376BMPR2c.1414G>A (p.Ala472Thr)
c.1345G>A (p.Ala449Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202552716G>CCA350344403BMPR2c.1414G>C (p.Ala472Pro)
c.1345G>C (p.Ala449Pro)
2g.202552716G=CA1321556387BMPR2c.1414G= (p.Ala472=)
c.1345G= (p.Ala449=)
2g.202552716G>TCA350344404BMPR2c.1414G>T (p.Ala472Ser)
c.1345G>T (p.Ala449Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.202552717C>ACA350344405BMPR2c.1415C>A (p.Ala472Glu)
c.1346C>A (p.Ala449Glu)
2g.202552717C>GCA350344406BMPR2c.1415C>G (p.Ala472Gly)
c.1346C>G (p.Ala449Gly)
2g.202552717C>TCA350344407BMPR2c.1415C>T (p.Ala472Val)
c.1346C>T (p.Ala449Val)
2g.202552718A>CCA430859503BMPR2c.1416A>C (p.Ala472=)
c.1347A>C (p.Ala449=)
2g.202552718A>GCA430859504BMPR2c.1416A>G (p.Ala472=)
c.1347A>G (p.Ala449=)
2g.202552718A>TCA430859508BMPR2c.1416A>T (p.Ala472=)
c.1347A>T (p.Ala449=)
2g.202552719G>ACA350344408BMPR2c.1417G>A (p.Val473Met)
c.1348G>A (p.Val450Met)
2g.202552719G>CCA350344409BMPR2c.1417G>C (p.Val473Leu)
c.1348G>C (p.Val450Leu)
2g.202552719G>TCA350344410BMPR2c.1417G>T (p.Val473Leu)
c.1348G>T (p.Val450Leu)
2g.202552720T>ACA350344411BMPR2c.1418T>A (p.Val473Glu)
c.1349T>A (p.Val450Glu)
2g.202552720T>CCA350344412BMPR2c.1418T>C (p.Val473Ala)
c.1349T>C (p.Val450Ala)
2g.202552720T>GCA350344413BMPR2c.1418T>G (p.Val473Gly)
c.1349T>G (p.Val450Gly)
2g.202552721G>ACA430859516BMPR2c.1419G>A (p.Val473=)
c.1350G>A (p.Val450=)
2g.202552721G>CCA430859518BMPR2c.1419G>C (p.Val473=)
c.1350G>C (p.Val450=)
2g.202552721G>TCA430859522BMPR2c.1419G>T (p.Val473=)
c.1350G>T (p.Val450=)
2g.202552722A>CCA430859525BMPR2c.1420A>C (p.Arg474=)
c.1351A>C (p.Arg451=)
2g.202552722A>GCA350344415BMPR2c.1420A>G (p.Arg474Gly)
c.1351A>G (p.Arg451Gly)
2g.202552722A>TCA350344414BMPR2c.1420A>T (p.Arg474Trp)
c.1351A>T (p.Arg451Trp)
2g.202552723G>ACA350344416BMPR2c.1421G>A (p.Arg474Lys)
c.1352G>A (p.Arg451Lys)
 dbSNP
2g.202552723G>CCA350344418BMPR2c.1421G>C (p.Arg474Thr)
c.1352G>C (p.Arg451Thr)
2g.202552723G=CA1321556392BMPR2c.1421G= (p.Arg474=)
c.1352G= (p.Arg451=)
2g.202552723G>TCA350344417BMPR2c.1421G>T (p.Arg474Met)
c.1352G>T (p.Arg451Met)
2g.202552724G>ACA430859537BMPR2c.1422G>A (p.Arg474=)
c.1353G>A (p.Arg451=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.202552724G>CCA350344419BMPR2c.1422G>C (p.Arg474Ser)
c.1353G>C (p.Arg451Ser)
2g.202552724G=CA1321556395BMPR2c.1422G= (p.Arg474=)
c.1353G= (p.Arg451=)
2g.202552724G>TCA350344420BMPR2c.1422G>T (p.Arg474Ser)
c.1353G>T (p.Arg451Ser)
2g.202552725T>ACA350344421BMPR2c.1423T>A (p.Ser475Thr)
c.1354T>A (p.Ser452Thr)
2g.202552725T>CCA350344423BMPR2c.1423T>C (p.Ser475Pro)
c.1354T>C (p.Ser452Pro)
2g.202552725T>GCA350344422BMPR2c.1423T>G (p.Ser475Ala)
c.1354T>G (p.Ser452Ala)
2g.202552726C>ACA350344424BMPR2c.1424C>A (p.Ser475Ter)
c.1355C>A (p.Ser452Ter)
 ClinVar dbSNP gnomAD v4
2g.202552726C=CA1321556400BMPR2c.1424C= (p.Ser475=)
c.1355C= (p.Ser452=)
2g.202552726C>GCA350344425BMPR2c.1424C>G (p.Ser475Ter)
c.1355C>G (p.Ser452Ter)
2g.202552726C>TCA350344426BMPR2c.1424C>T (p.Ser475Leu)
c.1355C>T (p.Ser452Leu)
2g.202552727A>CCA430859548BMPR2c.1425A>C (p.Ser475=)
c.1356A>C (p.Ser452=)
2g.202552727A>GCA430859550BMPR2c.1425A>G (p.Ser475=)
c.1356A>G (p.Ser452=)
2g.202552727A>TCA430859552BMPR2c.1425A>T (p.Ser475=)
c.1356A>T (p.Ser452=)
2g.202552727_202552752delinsACTCAAGGAGACAATCGAAGACTGTTCA1321556402BMPR2c.1425_1450delinsACTCAAGGAGACAATCGAAGACTGTT (p.Ser475=)
c.1356_1381delinsACTCAAGGAGACAATCGAAGACTGTT (p.Ser452=)
2g.202552728C>ACA350344427BMPR2c.1426C>A (p.Leu476Ile)
c.1357C>A (p.Leu453Ile)
2g.202552728C>GCA350344428BMPR2c.1426C>G (p.Leu476Val)
c.1357C>G (p.Leu453Val)
2g.202552728C>TCA350344429BMPR2c.1426C>T (p.Leu476Phe)
c.1357C>T (p.Leu453Phe)
2g.202552728_202552729delinsCTCA1321556407BMPR2c.1426_1427delinsCT (p.Leu476=)
c.1357_1358delinsCT (p.Leu453=)
2g.202552728_202552752delCA320979BMPR2c.1426_1450del (p.Leu476GlyfsTer22)
c.1357_1381del (p.Leu453GlyfsTer22)
 ClinVar dbSNP
2g.202552729delCA645293981BMPR2c.1427del (p.Leu476ProfsTer30)
c.1358del (p.Leu453ProfsTer30)
 ClinVar dbSNP
2g.202552729T>ACA350344430BMPR2c.1427T>A (p.Leu476His)
c.1358T>A (p.Leu453His)
2g.202552729T>CCA350344431BMPR2c.1427T>C (p.Leu476Pro)
c.1358T>C (p.Leu453Pro)
2g.202552729T>GCA16604019BMPR2c.1427T>G (p.Leu476Arg)
c.1358T>G (p.Leu453Arg)
 ClinVar dbSNP
2g.202552729T=CA1321556415BMPR2c.1427T= (p.Leu476=)
c.1358T= (p.Leu453=)
2g.202552730C>ACA430859563BMPR2c.1428C>A (p.Leu476=)
c.1359C>A (p.Leu453=)
2g.202552730C>GCA430859565BMPR2c.1428C>G (p.Leu476=)
c.1359C>G (p.Leu453=)
2g.202552730C>TCA430859568BMPR2c.1428C>T (p.Leu476=)
c.1359C>T (p.Leu453=)
2g.202552731A>CCA350344432BMPR2c.1429A>C (p.Lys477Gln)
c.1360A>C (p.Lys454Gln)
2g.202552731A>GCA350344433BMPR2c.1429A>G (p.Lys477Glu)
c.1360A>G (p.Lys454Glu)
 ClinVar
2g.202552731A>TCA350344434BMPR2c.1429A>T (p.Lys477Ter)
c.1360A>T (p.Lys454Ter)
2g.202552732A=CA1321556422BMPR2c.1430A= (p.Lys477=)
c.1361A= (p.Lys454=)
2g.202552732A>CCA2061377BMPR2c.1430A>C (p.Lys477Thr)
c.1361A>C (p.Lys454Thr)
 dbSNP ExAC gnomAD v2
2g.202552732A>GCA350344436BMPR2c.1430A>G (p.Lys477Arg)
c.1361A>G (p.Lys454Arg)
 dbSNP gnomAD v4
2g.202552732A>TCA350344435BMPR2c.1430A>T (p.Lys477Met)
c.1361A>T (p.Lys454Met)
2g.202552733G>ACA430859581BMPR2c.1431G>A (p.Lys477=)
c.1362G>A (p.Lys454=)
2g.202552733G>CCA350344437BMPR2c.1431G>C (p.Lys477Asn)
c.1362G>C (p.Lys454Asn)
2g.202552733G>TCA350344438BMPR2c.1431G>T (p.Lys477Asn)
c.1362G>T (p.Lys454Asn)
2g.202552734G>ACA350344439BMPR2c.1432G>A (p.Glu478Lys)
c.1363G>A (p.Glu455Lys)
2g.202552734G>CCA350344440BMPR2c.1432G>C (p.Glu478Gln)
c.1363G>C (p.Glu455Gln)
2g.202552734G=CA1321556428BMPR2c.1432G= (p.Glu478=)
c.1363G= (p.Glu455=)
2g.202552734G>TCA350344441BMPR2c.1432G>T (p.Glu478Ter)
c.1363G>T (p.Glu455Ter)
 ClinVar dbSNP
2g.202552735A>CCA350344442BMPR2c.1433A>C (p.Glu478Ala)
c.1364A>C (p.Glu455Ala)
2g.202552735A>GCA350344443BMPR2c.1433A>G (p.Glu478Gly)
c.1364A>G (p.Glu455Gly)
2g.202552735A>TCA350344444BMPR2c.1433A>T (p.Glu478Val)
c.1364A>T (p.Glu455Val)
2g.202552736G>ACA430859591BMPR2c.1434G>A (p.Glu478=)
c.1365G>A (p.Glu455=)
2g.202552736G>CCA350344445BMPR2c.1434G>C (p.Glu478Asp)
c.1365G>C (p.Glu455Asp)
2g.202552736G>TCA350344446BMPR2c.1434G>T (p.Glu478Asp)
c.1365G>T (p.Glu455Asp)
2g.202552737A=CA1321556433BMPR2c.1435A= (p.Thr479=)
c.1366A= (p.Thr456=)
2g.202552737A>CCA350344447BMPR2c.1435A>C (p.Thr479Pro)
c.1366A>C (p.Thr456Pro)
 dbSNP
2g.202552737A>GCA350344448BMPR2c.1435A>G (p.Thr479Ala)
c.1366A>G (p.Thr456Ala)
 gnomAD v4
2g.202552737A>TCA350344449BMPR2c.1435A>T (p.Thr479Ser)
c.1366A>T (p.Thr456Ser)
2g.202552738C>ACA350344452BMPR2c.1436C>A (p.Thr479Lys)
c.1367C>A (p.Thr456Lys)
2g.202552738C>GCA350344451BMPR2c.1436C>G (p.Thr479Arg)
c.1367C>G (p.Thr456Arg)
2g.202552738C>TCA350344450BMPR2c.1436C>T (p.Thr479Ile)
c.1367C>T (p.Thr456Ile)
2g.202552739A>CCA430859605BMPR2c.1437A>C (p.Thr479=)
c.1368A>C (p.Thr456=)
2g.202552739A>GCA430859608BMPR2c.1437A>G (p.Thr479=)
c.1368A>G (p.Thr456=)
2g.202552739A>TCA430859612BMPR2c.1437A>T (p.Thr479=)
c.1368A>T (p.Thr456=)
2g.202552740A=CA1321556436BMPR2c.1438A= (p.Ile480=)
c.1369A= (p.Ile457=)
2g.202552740A>CCA350344453BMPR2c.1438A>C (p.Ile480Leu)
c.1369A>C (p.Ile457Leu)
2g.202552740A>GCA2061378BMPR2c.1438A>G (p.Ile480Val)
c.1369A>G (p.Ile457Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202552740A>TCA350344454BMPR2c.1438A>T (p.Ile480Phe)
c.1369A>T (p.Ile457Phe)
2g.202552741T>ACA350344455BMPR2c.1439T>A (p.Ile480Asn)
c.1370T>A (p.Ile457Asn)
2g.202552741T>CCA350344456BMPR2c.1439T>C (p.Ile480Thr)
c.1370T>C (p.Ile457Thr)
 dbSNP
2g.202552741T>GCA350344457BMPR2c.1439T>G (p.Ile480Ser)
c.1370T>G (p.Ile457Ser)
2g.202552741T=CA1321556439BMPR2c.1439T= (p.Ile480=)
c.1370T= (p.Ile457=)
2g.202552742C>ACA430859622BMPR2c.1440C>A (p.Ile480=)
c.1371C>A (p.Ile457=)
 dbSNP gnomAD v2 gnomAD v4
2g.202552742C=CA1321556441BMPR2c.1440C= (p.Ile480=)
c.1371C= (p.Ile457=)
2g.202552742C>GCA350344458BMPR2c.1440C>G (p.Ile480Met)
c.1371C>G (p.Ile457Met)
2g.202552742C>TCA2061379BMPR2c.1440C>T (p.Ile480=)
c.1371C>T (p.Ile457=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202552742_202552745delinsCGAACA1321556443BMPR2c.1440_1443delinsCGAA (p.Ile480=)
c.1371_1374delinsCGAA (p.Ile457=)
2g.202552743G>ACA64041071BMPR2c.1441G>A (p.Glu481Lys)
c.1372G>A (p.Glu458Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202552743G>CCA350344459BMPR2c.1441G>C (p.Glu481Gln)
c.1372G>C (p.Glu458Gln)
2g.202552743G=CA1321556447BMPR2c.1441G= (p.Glu481=)
c.1372G= (p.Glu458=)
2g.202552743G>TCA350344460BMPR2c.1441G>T (p.Glu481Ter)
c.1372G>T (p.Glu458Ter)
 ClinVar dbSNP
2g.202552745_202552747delCA10587994BMPR2c.1443_1445del (p.Glu481del)
c.1374_1376del (p.Glu458del)
 ClinVar dbSNP
2g.202552744A=CA1321556451BMPR2c.1442A= (p.Glu481=)
c.1373A= (p.Glu458=)
2g.202552744A>CCA350344461BMPR2c.1442A>C (p.Glu481Ala)
c.1373A>C (p.Glu458Ala)
2g.202552744A>GCA350344462BMPR2c.1442A>G (p.Glu481Gly)
c.1373A>G (p.Glu458Gly)
 dbSNP
2g.202552744A>TCA350344463BMPR2c.1442A>T (p.Glu481Val)
c.1373A>T (p.Glu458Val)
2g.202552745A>CCA350344464BMPR2c.1443A>C (p.Glu481Asp)
c.1374A>C (p.Glu458Asp)
2g.202552745A>GCA430859639BMPR2c.1443A>G (p.Glu481=)
c.1374A>G (p.Glu458=)
2g.202552745A>TCA350344465BMPR2c.1443A>T (p.Glu481Asp)
c.1374A>T (p.Glu458Asp)
2g.202552746G>ACA350344466BMPR2c.1444G>A (p.Asp482Asn)
c.1375G>A (p.Asp459Asn)
2g.202552746G>CCA350344467BMPR2c.1444G>C (p.Asp482His)
c.1375G>C (p.Asp459His)
2g.202552746G>TCA350344468BMPR2c.1444G>T (p.Asp482Tyr)
c.1375G>T (p.Asp459Tyr)
2g.202552747A=CA1321556456BMPR2c.1445A= (p.Asp482=)
c.1376A= (p.Asp459=)
2g.202552747A>CCA350344469BMPR2c.1445A>C (p.Asp482Ala)
c.1376A>C (p.Asp459Ala)
2g.202552747A>GCA350344470BMPR2c.1445A>G (p.Asp482Gly)
c.1376A>G (p.Asp459Gly)
 dbSNP gnomAD v4
2g.202552747A>TCA350344471BMPR2c.1445A>T (p.Asp482Val)
c.1376A>T (p.Asp459Val)
2g.202552748C>ACA350344472BMPR2c.1446C>A (p.Asp482Glu)
c.1377C>A (p.Asp459Glu)
2g.202552748C>GCA350344473BMPR2c.1446C>G (p.Asp482Glu)
c.1377C>G (p.Asp459Glu)
2g.202552748C>TCA430859652BMPR2c.1446C>T (p.Asp482=)
c.1377C>T (p.Asp459=)
2g.202552749T>ACA350344474BMPR2c.1447T>A (p.Cys483Ser)
c.1378T>A (p.Cys460Ser)
2g.202552749T>CCA350344475BMPR2c.1447T>C (p.Cys483Arg)
c.1378T>C (p.Cys460Arg)
 ClinVar dbSNP
2g.202552749T>GCA350344476BMPR2c.1447T>G (p.Cys483Gly)
c.1378T>G (p.Cys460Gly)
2g.202552749T=CA1321556460BMPR2c.1447T= (p.Cys483=)
c.1378T= (p.Cys460=)
2g.202552750_202552751delCA2586971009BMPR2c.1448_1449del (p.Cys483LeufsTer15)
c.1379_1380del (p.Cys460LeufsTer15)
2g.202552750G>ACA350344477BMPR2c.1448G>A (p.Cys483Tyr)
c.1379G>A (p.Cys460Tyr)
2g.202552750G>CCA350344479BMPR2c.1448G>C (p.Cys483Ser)
c.1379G>C (p.Cys460Ser)
 dbSNP
2g.202552750G=CA1321556467BMPR2c.1448G= (p.Cys483=)
c.1379G= (p.Cys460=)
2g.202552750G>TCA350344478BMPR2c.1448G>T (p.Cys483Phe)
c.1379G>T (p.Cys460Phe)
2g.202552751T>ACA350344480BMPR2c.1449T>A (p.Cys483Ter)
c.1380T>A (p.Cys460Ter)
2g.202552751T>CCA430859663BMPR2c.1449T>C (p.Cys483=)
c.1380T>C (p.Cys460=)
 gnomAD v4
2g.202552751T>GCA350344481BMPR2c.1449T>G (p.Cys483Trp)
c.1380T>G (p.Cys460Trp)
2g.202552752T>ACA350344482BMPR2c.1450T>A (p.Trp484Arg)
c.1381T>A (p.Trp461Arg)
2g.202552752T>CCA350344483BMPR2c.1450T>C (p.Trp484Arg)
c.1381T>C (p.Trp461Arg)
2g.202552752T>GCA350344484BMPR2c.1450T>G (p.Trp484Gly)
c.1381T>G (p.Trp461Gly)
2g.202552753G>ACA350344485BMPR2c.1451G>A (p.Trp484Ter)
c.1382G>A (p.Trp461Ter)
 ClinVar dbSNP
2g.202552753G>CCA350344486BMPR2c.1451G>C (p.Trp484Ser)
c.1382G>C (p.Trp461Ser)
2g.202552753G=CA1321556471BMPR2c.1451G= (p.Trp484=)
c.1382G= (p.Trp461=)
2g.202552753G>TCA350344487BMPR2c.1451G>T (p.Trp484Leu)
c.1382G>T (p.Trp461Leu)
2g.202552754G>ACA350344488BMPR2c.1452G>A (p.Trp484Ter)
c.1383G>A (p.Trp461Ter)
2g.202552754G>CCA350344489BMPR2c.1452G>C (p.Trp484Cys)
c.1383G>C (p.Trp461Cys)
2g.202552754G>TCA350344490BMPR2c.1452G>T (p.Trp484Cys)
c.1383G>T (p.Trp461Cys)
2g.202552755G>ACA350344491BMPR2c.1453G>A (p.Asp485Asn)
c.1384G>A (p.Asp462Asn)
 ClinVar dbSNP
2g.202552755G>CCA350344492BMPR2c.1453G>C (p.Asp485His)
c.1384G>C (p.Asp462His)
2g.202552755G=CA1321556543BMPR2c.1453G= (p.Asp485=)
c.1384G= (p.Asp462=)
2g.202552755G>TCA350344493BMPR2c.1453G>T (p.Asp485Tyr)
c.1384G>T (p.Asp462Tyr)
2g.202552756A=CA1321556547BMPR2c.1454A= (p.Asp485=)
c.1385A= (p.Asp462=)
2g.202552756A>CCA350344497BMPR2c.1454A>C (p.Asp485Ala)
c.1385A>C (p.Asp462Ala)
2g.202552756A>GCA278079BMPR2c.1454A>G (p.Asp485Gly)
c.1385A>G (p.Asp462Gly)
 ClinVar dbSNP
2g.202552756A>TCA350344495BMPR2c.1454A>T (p.Asp485Val)
c.1385A>T (p.Asp462Val)
2g.202552757C>ACA350344499BMPR2c.1455C>A (p.Asp485Glu)
c.1386C>A (p.Asp462Glu)
2g.202552757C=CA1321556549BMPR2c.1455C= (p.Asp485=)
c.1386C= (p.Asp462=)
2g.202552757C>GCA350344500BMPR2c.1455C>G (p.Asp485Glu)
c.1386C>G (p.Asp462Glu)
2g.202552757C>TCA430859690BMPR2c.1455C>T (p.Asp485=)
c.1386C>T (p.Asp462=)
 dbSNP gnomAD v4
2g.202552758C>ACA350344503BMPR2c.1456C>A (p.Gln486Lys)
c.1387C>A (p.Gln463Lys)
2g.202552758C=CA1321556554BMPR2c.1456C= (p.Gln486=)
c.1387C= (p.Gln463=)
2g.202552758C>GCA350344505BMPR2c.1456C>G (p.Gln486Glu)
c.1387C>G (p.Gln463Glu)
2g.202552758C>TCA350344506BMPR2c.1456C>T (p.Gln486Ter)
c.1387C>T (p.Gln463Ter)
 ClinVar dbSNP
2g.202552759A>CCA350344509BMPR2c.1457A>C (p.Gln486Pro)
c.1388A>C (p.Gln463Pro)
2g.202552759A>GCA350344511BMPR2c.1457A>G (p.Gln486Arg)
c.1388A>G (p.Gln463Arg)
 ClinVar dbSNP
2g.202552759A>TCA350344512BMPR2c.1457A>T (p.Gln486Leu)
c.1388A>T (p.Gln463Leu)
2g.202552760G>ACA430859699BMPR2c.1458G>A (p.Gln486=)
c.1389G>A (p.Gln463=)
2g.202552760G>CCA350344515BMPR2c.1458G>C (p.Gln486His)
c.1389G>C (p.Gln463His)
2g.202552760G>TCA350344516BMPR2c.1458G>T (p.Gln486His)
c.1389G>T (p.Gln463His)
2g.202552761G>ACA350344519BMPR2c.1459G>A (p.Asp487Asn)
c.1390G>A (p.Asp464Asn)
2g.202552761G>CCA350344517BMPR2c.1459G>C (p.Asp487His)
c.1390G>C (p.Asp464His)
2g.202552761G=CA1321556556BMPR2c.1459G= (p.Asp487=)
c.1390G= (p.Asp464=)
2g.202552761G>TCA324334BMPR2c.1459G>T (p.Asp487Tyr)
c.1390G>T (p.Asp464Tyr)
 ClinVar dbSNP
2g.202552762A=CA1321556559BMPR2c.1460A= (p.Asp487=)
c.1391A= (p.Asp464=)
2g.202552762A>CCA350344522BMPR2c.1460A>C (p.Asp487Ala)
c.1391A>C (p.Asp464Ala)
2g.202552762A>GCA350344523BMPR2c.1460A>G (p.Asp487Gly)
c.1391A>G (p.Asp464Gly)
2g.202552762A>TCA350344525BMPR2c.1460A>T (p.Asp487Val)
c.1391A>T (p.Asp464Val)
 ClinVar dbSNP
2g.202552763T>ACA350344528BMPR2c.1461T>A (p.Asp487Glu)
c.1392T>A (p.Asp464Glu)
2g.202552763T>CCA430859716BMPR2c.1461T>C (p.Asp487=)
c.1392T>C (p.Asp464=)
2g.202552763T>GCA350344529BMPR2c.1461T>G (p.Asp487Glu)
c.1392T>G (p.Asp464Glu)
 ClinVar dbSNP
2g.202552764G>ACA350344531BMPR2c.1462G>A (p.Ala488Thr)
c.1393G>A (p.Ala465Thr)
2g.202552764G>CCA350344533BMPR2c.1462G>C (p.Ala488Pro)
c.1393G>C (p.Ala465Pro)
2g.202552764G>TCA350344535BMPR2c.1462G>T (p.Ala488Ser)
c.1393G>T (p.Ala465Ser)
2g.202552765C>ACA350344537BMPR2c.1463C>A (p.Ala488Glu)
c.1394C>A (p.Ala465Glu)
2g.202552765C>GCA350344539BMPR2c.1463C>G (p.Ala488Gly)
c.1394C>G (p.Ala465Gly)
2g.202552765C>TCA350344541BMPR2c.1463C>T (p.Ala488Val)
c.1394C>T (p.Ala465Val)
2g.202552766A>CCA430859726BMPR2c.1464A>C (p.Ala488=)
c.1395A>C (p.Ala465=)
2g.202552766A>GCA430859730BMPR2c.1464A>G (p.Ala488=)
c.1395A>G (p.Ala465=)
2g.202552766A>TCA430859729BMPR2c.1464A>T (p.Ala488=)
c.1395A>T (p.Ala465=)
2g.202552767G>ACA350344547BMPR2c.1465G>A (p.Glu489Lys)
c.1396G>A (p.Glu466Lys)
2g.202552767G>CCA350344545BMPR2c.1465G>C (p.Glu489Gln)
c.1396G>C (p.Glu466Gln)
2g.202552767G>TCA350344544BMPR2c.1465G>T (p.Glu489Ter)
c.1396G>T (p.Glu466Ter)
2g.202552768A>CCA350344549BMPR2c.1466A>C (p.Glu489Ala)
c.1397A>C (p.Glu466Ala)
2g.202552768A>GCA350344551BMPR2c.1466A>G (p.Glu489Gly)
c.1397A>G (p.Glu466Gly)
2g.202552768A>TCA350344553BMPR2c.1466A>T (p.Glu489Val)
c.1397A>T (p.Glu466Val)
2g.202552769G>ACA430859740BMPR2c.1467G>A (p.Glu489=)
c.1398G>A (p.Glu466=)
2g.202552769G>CCA350344555BMPR2c.1467G>C (p.Glu489Asp)
c.1398G>C (p.Glu466Asp)
2g.202552769G>TCA350344557BMPR2c.1467G>T (p.Glu489Asp)
c.1398G>T (p.Glu466Asp)
 COSMIC
2g.202552770G>ACA350344559BMPR2c.1468G>A (p.Ala490Thr)
c.1399G>A (p.Ala467Thr)
2g.202552770G>CCA350344561BMPR2c.1468G>C (p.Ala490Pro)
c.1399G>C (p.Ala467Pro)
2g.202552770G>TCA350344562BMPR2c.1468G>T (p.Ala490Ser)
c.1399G>T (p.Ala467Ser)
2g.202552770_202552771dupCA2586971010BMPR2c.1468_1469dup (p.Arg491LeufsTer16)
c.1399_1400dup (p.Arg468LeufsTer16)
2g.202552771C>ACA350344565BMPR2c.1469C>A (p.Ala490Asp)
c.1400C>A (p.Ala467Asp)
2g.202552771C=CA1321556562BMPR2c.1469C= (p.Ala490=)
c.1400C= (p.Ala467=)
2g.202552771C>GCA350344567BMPR2c.1469C>G (p.Ala490Gly)
c.1400C>G (p.Ala467Gly)
2g.202552771C>TCA10587995BMPR2c.1469C>T (p.Ala490Val)
c.1400C>T (p.Ala467Val)
 ClinVar dbSNP
2g.202552772T>ACA430859751BMPR2c.1470T>A (p.Ala490=)
c.1401T>A (p.Ala467=)
2g.202552772T>CCA430859756BMPR2c.1470T>C (p.Ala490=)
c.1401T>C (p.Ala467=)
2g.202552772T>GCA430859758BMPR2c.1470T>G (p.Ala490=)
c.1401T>G (p.Ala467=)
2g.202552773C>ACA430859760BMPR2c.1471C>A (p.Arg491=)
c.1402C>A (p.Arg468=)
2g.202552773C=CA1321556566BMPR2c.1471C= (p.Arg491=)
c.1402C= (p.Arg468=)
2g.202552773C>GCA350344570BMPR2c.1471C>G (p.Arg491Gly)
c.1402C>G (p.Arg468Gly)
2g.202552773C>TCA278081BMPR2c.1471C>T (p.Arg491Trp)
c.1402C>T (p.Arg468Trp)
 ClinVar dbSNP COSMIC
2g.202552774G>ACA278089BMPR2c.1472G>A (p.Arg491Gln)
c.1403G>A (p.Arg468Gln)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.202552774G>CCA350344576BMPR2c.1472G>C (p.Arg491Pro)
c.1403G>C (p.Arg468Pro)
2g.202552774G=CA1321556571BMPR2c.1472G= (p.Arg491=)
c.1403G= (p.Arg468=)
2g.202552774G>TCA350344573BMPR2c.1472G>T (p.Arg491Leu)
c.1403G>T (p.Arg468Leu)
 ClinVar dbSNP
2g.202552775G>ACA430859771BMPR2c.1473G>A (p.Arg491=)
c.1404G>A (p.Arg468=)
2g.202552775G>CCA430859773BMPR2c.1473G>C (p.Arg491=)
c.1404G>C (p.Arg468=)
2g.202552775G>TCA430859774BMPR2c.1473G>T (p.Arg491=)
c.1404G>T (p.Arg468=)
2g.202552776C>ACA350344581BMPR2c.1474C>A (p.Leu492Ile)
c.1405C>A (p.Leu469Ile)
 dbSNP
2g.202552776C=CA1321556575BMPR2c.1474C= (p.Leu492=)
c.1405C= (p.Leu469=)
2g.202552776C>GCA350344579BMPR2c.1474C>G (p.Leu492Val)
c.1405C>G (p.Leu469Val)
2g.202552776C>TCA350344583BMPR2c.1474C>T (p.Leu492Phe)
c.1405C>T (p.Leu469Phe)
 gnomAD v4
2g.202552777T>ACA350344585BMPR2c.1475T>A (p.Leu492His)
c.1406T>A (p.Leu469His)
2g.202552777T>CCA350344587BMPR2c.1475T>C (p.Leu492Pro)
c.1406T>C (p.Leu469Pro)
2g.202552777T>GCA350344588BMPR2c.1475T>G (p.Leu492Arg)
c.1406T>G (p.Leu469Arg)
2g.202552778T>ACA430859787BMPR2c.1476T>A (p.Leu492=)
c.1407T>A (p.Leu469=)
2g.202552778T>CCA430859788BMPR2c.1476T>C (p.Leu492=)
c.1407T>C (p.Leu469=)
2g.202552778T>GCA430859791BMPR2c.1476T>G (p.Leu492=)
c.1407T>G (p.Leu469=)
2g.202552778T=CA1321556579BMPR2c.1476T= (p.Leu492=)
c.1407T= (p.Leu469=)
2g.202552779A>CCA350344591BMPR2c.1477A>C (p.Thr493Pro)
c.1408A>C (p.Thr470Pro)
2g.202552779A>GCA350344592BMPR2c.1477A>G (p.Thr493Ala)
c.1408A>G (p.Thr470Ala)
2g.202552779A>TCA350344594BMPR2c.1477A>T (p.Thr493Ser)
c.1408A>T (p.Thr470Ser)
2g.202552779dupCA645293982BMPR2c.1477dup (p.Thr493AsnfsTer6)
c.1408dup (p.Thr470AsnfsTer6)
 ClinVar dbSNP
2g.202552780C>ACA350344597BMPR2c.1478C>A (p.Thr493Asn)
c.1409C>A (p.Thr470Asn)
2g.202552780C=CA1321556586BMPR2c.1478C= (p.Thr493=)
c.1409C= (p.Thr470=)
2g.202552780C>GCA350344598BMPR2c.1478C>G (p.Thr493Ser)
c.1409C>G (p.Thr470Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.202552780C>TCA350344599BMPR2c.1478C>T (p.Thr493Ile)
c.1409C>T (p.Thr470Ile)
2g.202552781T>ACA430859802BMPR2c.1479T>A (p.Thr493=)
c.1410T>A (p.Thr470=)
2g.202552781T>CCA430859805BMPR2c.1479T>C (p.Thr493=)
c.1410T>C (p.Thr470=)
2g.202552781T>GCA430859807BMPR2c.1479T>G (p.Thr493=)
c.1410T>G (p.Thr470=)
2g.202552782G>ACA350344602BMPR2c.1480G>A (p.Ala494Thr)
c.1411G>A (p.Ala471Thr)
2g.202552782G>CCA350344604BMPR2c.1480G>C (p.Ala494Pro)
c.1411G>C (p.Ala471Pro)
2g.202552782G>TCA350344605BMPR2c.1480G>T (p.Ala494Ser)
c.1411G>T (p.Ala471Ser)
2g.202552783C>ACA350344610BMPR2c.1481C>A (p.Ala494Glu)
c.1412C>A (p.Ala471Glu)
2g.202552783C=CA1321556589BMPR2c.1481C= (p.Ala494=)
c.1412C= (p.Ala471=)
2g.202552783C>GCA350344607BMPR2c.1481C>G (p.Ala494Gly)
c.1412C>G (p.Ala471Gly)
2g.202552783C>TCA2061380BMPR2c.1481C>T (p.Ala494Val)
c.1412C>T (p.Ala471Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202552784A>CCA430859818BMPR2c.1482A>C (p.Ala494=)
c.1413A>C (p.Ala471=)
2g.202552784A>GCA430859820BMPR2c.1482A>G (p.Ala494=)
c.1413A>G (p.Ala471=)
 gnomAD v4
2g.202552784A>TCA430859822BMPR2c.1482A>T (p.Ala494=)
c.1413A>T (p.Ala471=)
2g.202552785C>ACA350344611BMPR2c.1483C>A (p.Gln495Lys)
c.1414C>A (p.Gln472Lys)
2g.202552785C=CA1321556592BMPR2c.1483C= (p.Gln495=)
c.1414C= (p.Gln472=)
2g.202552785C>GCA350344613BMPR2c.1483C>G (p.Gln495Glu)
c.1414C>G (p.Gln472Glu)
2g.202552785C>TCA350344615BMPR2c.1483C>T (p.Gln495Ter)
c.1414C>T (p.Gln472Ter)
 ClinVar dbSNP
2g.202552786A=CA1321556598BMPR2c.1484A= (p.Gln495=)
c.1415A= (p.Gln472=)
2g.202552786A>CCA350344617BMPR2c.1484A>C (p.Gln495Pro)
c.1415A>C (p.Gln472Pro)
2g.202552786A>GCA350344619BMPR2c.1484A>G (p.Gln495Arg)
c.1415A>G (p.Gln472Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.202552786A>TCA350344621BMPR2c.1484A>T (p.Gln495Leu)
c.1415A>T (p.Gln472Leu)
2g.202552787G>ACA430859832BMPR2c.1485G>A (p.Gln495=)
c.1416G>A (p.Gln472=)
 gnomAD v4
2g.202552787G>CCA350344622BMPR2c.1485G>C (p.Gln495His)
c.1416G>C (p.Gln472His)
2g.202552787G>TCA350344624BMPR2c.1485G>T (p.Gln495His)
c.1416G>T (p.Gln472His)
2g.202552788T>ACA350344626BMPR2c.1486T>A (p.Cys496Ser)
c.1417T>A (p.Cys473Ser)
2g.202552788T>CCA350344628BMPR2c.1486T>C (p.Cys496Arg)
c.1417T>C (p.Cys473Arg)
 ClinVar dbSNP
2g.202552788T>GCA350344629BMPR2c.1486T>G (p.Cys496Gly)
c.1417T>G (p.Cys473Gly)
2g.202552788T=CA1321556601BMPR2c.1486T= (p.Cys496=)
c.1417T= (p.Cys473=)
2g.202552789G>ACA350344634BMPR2c.1487G>A (p.Cys496Tyr)
c.1418G>A (p.Cys473Tyr)
 ClinVar dbSNP
2g.202552789G>CCA350344635BMPR2c.1487G>C (p.Cys496Ser)
c.1418G>C (p.Cys473Ser)
2g.202552789G=CA1321556604BMPR2c.1487G= (p.Cys496=)
c.1418G= (p.Cys473=)
2g.202552789G>TCA350344632BMPR2c.1487G>T (p.Cys496Phe)
c.1418G>T (p.Cys473Phe)
2g.202552789_202552807delinsGTGCTGAGGAAAGGATGGCCA1321556605BMPR2c.1487_1505delinsGTGCTGAGGAAAGGATGGC (p.Cys496=)
c.1418_1436delinsGTGCTGAGGAAAGGATGGC (p.Cys473=)
2g.202552790T>ACA350344637BMPR2c.1488T>A (p.Cys496Ter)
c.1419T>A (p.Cys473Ter)
2g.202552790T>CCA430859844BMPR2c.1488T>C (p.Cys496=)
c.1419T>C (p.Cys473=)
2g.202552790T>GCA350344638BMPR2c.1488T>G (p.Cys496Trp)
c.1419T>G (p.Cys473Trp)
 ClinVar dbSNP
2g.202552792_202552809delCA915941656BMPR2c.1490_1507del (p.Ala497_Ala502del)
c.1421_1438del (p.Ala474_Ala479del)
 ClinVar dbSNP
2g.202552791G>ACA350344640BMPR2c.1489G>A (p.Ala497Thr)
c.1420G>A (p.Ala474Thr)
2g.202552791G>CCA350344642BMPR2c.1489G>C (p.Ala497Pro)
c.1420G>C (p.Ala474Pro)
2g.202552791G>TCA350344643BMPR2c.1489G>T (p.Ala497Ser)
c.1420G>T (p.Ala474Ser)
2g.202552792C>ACA350344646BMPR2c.1490C>A (p.Ala497Asp)
c.1421C>A (p.Ala474Asp)
2g.202552792C>GCA350344647BMPR2c.1490C>G (p.Ala497Gly)
c.1421C>G (p.Ala474Gly)
2g.202552792C>TCA350344648BMPR2c.1490C>T (p.Ala497Val)
c.1421C>T (p.Ala474Val)
2g.202552793T>ACA430859857BMPR2c.1491T>A (p.Ala497=)
c.1422T>A (p.Ala474=)
2g.202552793T>CCA430859860BMPR2c.1491T>C (p.Ala497=)
c.1422T>C (p.Ala474=)
2g.202552793T>GCA430859858BMPR2c.1491T>G (p.Ala497=)
c.1422T>G (p.Ala474=)
2g.202552794G>ACA350344650BMPR2c.1492G>A (p.Glu498Lys)
c.1423G>A (p.Glu475Lys)
 ClinVar dbSNP
2g.202552794G>CCA2061381BMPR2c.1492G>C (p.Glu498Gln)
c.1423G>C (p.Glu475Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202552794G=CA1321556610BMPR2c.1492G= (p.Glu498=)
c.1423G= (p.Glu475=)
2g.202552794G>TCA350344651BMPR2c.1492G>T (p.Glu498Ter)
c.1423G>T (p.Glu475Ter)
2g.202552795A>CCA350344653BMPR2c.1493A>C (p.Glu498Ala)
c.1424A>C (p.Glu475Ala)
2g.202552795A>GCA350344655BMPR2c.1493A>G (p.Glu498Gly)
c.1424A>G (p.Glu475Gly)
2g.202552795A>TCA350344657BMPR2c.1493A>T (p.Glu498Val)
c.1424A>T (p.Glu475Val)
2g.202552796G>ACA430859872BMPR2c.1494G>A (p.Glu498=)
c.1425G>A (p.Glu475=)
2g.202552796G>CCA350344659BMPR2c.1494G>C (p.Glu498Asp)
c.1425G>C (p.Glu475Asp)
2g.202552796G>TCA350344661BMPR2c.1494G>T (p.Glu498Asp)
c.1425G>T (p.Glu475Asp)
2g.202552797G>ACA350344663BMPR2c.1495G>A (p.Glu499Lys)
c.1426G>A (p.Glu476Lys)
2g.202552797G>CCA350344665BMPR2c.1495G>C (p.Glu499Gln)
c.1426G>C (p.Glu476Gln)
2g.202552797G>TCA350344667BMPR2c.1495G>T (p.Glu499Ter)
c.1426G>T (p.Glu476Ter)
2g.202552798A>CCA350344669BMPR2c.1496A>C (p.Glu499Ala)
c.1427A>C (p.Glu476Ala)
2g.202552798A>GCA350344671BMPR2c.1496A>G (p.Glu499Gly)
c.1427A>G (p.Glu476Gly)
2g.202552798A>TCA350344673BMPR2c.1496A>T (p.Glu499Val)
c.1427A>T (p.Glu476Val)
2g.202552799A>CCA350344675BMPR2c.1497A>C (p.Glu499Asp)
c.1428A>C (p.Glu476Asp)
2g.202552799A>GCA430859888BMPR2c.1497A>G (p.Glu499=)
c.1428A>G (p.Glu476=)
 ClinVar dbSNP gnomAD v4
2g.202552799A>TCA350344677BMPR2c.1497A>T (p.Glu499Asp)
c.1428A>T (p.Glu476Asp)
2g.202552800A>CCA430859892BMPR2c.1498A>C (p.Arg500=)
c.1429A>C (p.Arg477=)
2g.202552800A>GCA350344679BMPR2c.1498A>G (p.Arg500Gly)
c.1429A>G (p.Arg477Gly)
2g.202552800A>TCA350344680BMPR2c.1498A>T (p.Arg500Trp)
c.1429A>T (p.Arg477Trp)
2g.202552801G>ACA350344682BMPR2c.1499G>A (p.Arg500Lys)
c.1430G>A (p.Arg477Lys)
2g.202552801G>CCA350344683BMPR2c.1499G>C (p.Arg500Thr)
c.1430G>C (p.Arg477Thr)
2g.202552801G>TCA350344685BMPR2c.1499G>T (p.Arg500Met)
c.1430G>T (p.Arg477Met)
2g.202552802G>ACA430859909BMPR2c.1500G>A (p.Arg500=)
c.1431G>A (p.Arg477=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.202552802G>CCA350344687BMPR2c.1500G>C (p.Arg500Ser)
c.1431G>C (p.Arg477Ser)
2g.202552802G=CA1321556615BMPR2c.1500G= (p.Arg500=)
c.1431G= (p.Arg477=)
2g.202552802G>TCA350344688BMPR2c.1500G>T (p.Arg500Ser)
c.1431G>T (p.Arg477Ser)
2g.202552803A>CCA350344691BMPR2c.1501A>C (p.Met501Leu)
c.1432A>C (p.Met478Leu)
2g.202552803A>GCA350344692BMPR2c.1501A>G (p.Met501Val)
c.1432A>G (p.Met478Val)
2g.202552803A>TCA350344694BMPR2c.1501A>T (p.Met501Leu)
c.1432A>T (p.Met478Leu)
2g.202552804T>ACA350344697BMPR2c.1502T>A (p.Met501Lys)
c.1433T>A (p.Met478Lys)
2g.202552804T>CCA350344699BMPR2c.1502T>C (p.Met501Thr)
c.1433T>C (p.Met478Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.202552804T>GCA350344700BMPR2c.1502T>G (p.Met501Arg)
c.1433T>G (p.Met478Arg)
2g.202552804T=CA1321556624BMPR2c.1502T= (p.Met501=)
c.1433T= (p.Met478=)
2g.202552805G>ACA350344706BMPR2c.1503G>A (p.Met501Ile)
c.1434G>A (p.Met478Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.202552805G>CCA350344704BMPR2c.1503G>C (p.Met501Ile)
c.1434G>C (p.Met478Ile)
2g.202552805G=CA1321556626BMPR2c.1503G= (p.Met501=)
c.1434G= (p.Met478=)
2g.202552805G>TCA350344703BMPR2c.1503G>T (p.Met501Ile)
c.1434G>T (p.Met478Ile)
2g.202552806G>ACA350344708BMPR2c.1504G>A (p.Ala502Thr)
c.1435G>A (p.Ala479Thr)
2g.202552806G>CCA350344710BMPR2c.1504G>C (p.Ala502Pro)
c.1435G>C (p.Ala479Pro)
2g.202552806G>TCA350344711BMPR2c.1504G>T (p.Ala502Ser)
c.1435G>T (p.Ala479Ser)
2g.202552807C>ACA350344715BMPR2c.1505C>A (p.Ala502Asp)
c.1436C>A (p.Ala479Asp)
2g.202552807C>GCA350344716BMPR2c.1505C>G (p.Ala502Gly)
c.1436C>G (p.Ala479Gly)
2g.202552807C>TCA350344719BMPR2c.1505C>T (p.Ala502Val)
c.1436C>T (p.Ala479Val)
2g.202552807_202552808delinsCTCA1321556628BMPR2c.1505_1506delinsCT (p.Ala502=)
c.1436_1437delinsCT (p.Ala479=)
2g.202552808delCA645509116BMPR2c.1506del (p.Glu503AsnfsTer3)
c.1437del (p.Glu480AsnfsTer3)
 ClinVar dbSNP
2g.202552808T>ACA430859938BMPR2c.1506T>A (p.Ala502=)
c.1437T>A (p.Ala479=)
2g.202552808T>CCA430859939BMPR2c.1506T>C (p.Ala502=)
c.1437T>C (p.Ala479=)
 dbSNP gnomAD v3 gnomAD v4
2g.202552808T>GCA430859941BMPR2c.1506T>G (p.Ala502=)
c.1437T>G (p.Ala479=)
2g.202552808T=CA1321556633BMPR2c.1506T= (p.Ala502=)
c.1437T= (p.Ala479=)
2g.202552809G>ACA350344722BMPR2c.1507G>A (p.Glu503Lys)
c.1438G>A (p.Glu480Lys)
2g.202552809G>CCA350344725BMPR2c.1507G>C (p.Glu503Gln)
c.1438G>C (p.Glu480Gln)
2g.202552809G>TCA350344724BMPR2c.1507G>T (p.Glu503Ter)
c.1438G>T (p.Glu480Ter)
2g.202552810A>CCA350344727BMPR2c.1508A>C (p.Glu503Ala)
c.1439A>C (p.Glu480Ala)
2g.202552810A>GCA350344729BMPR2c.1508A>G (p.Glu503Gly)
c.1439A>G (p.Glu480Gly)
2g.202552810A>TCA350344731BMPR2c.1508A>T (p.Glu503Val)
c.1439A>T (p.Glu480Val)
2g.202552811A=CA1321556637BMPR2c.1509A= (p.Glu503=)
c.1440A= (p.Glu480=)
2g.202552811A>CCA16610570BMPR2c.1509A>C (p.Glu503Asp)
c.1440A>C (p.Glu480Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.202552811A>GCA430859958BMPR2c.1509A>G (p.Glu503=)
c.1440A>G (p.Glu480=)
2g.202552811A>TCA350344734BMPR2c.1509A>T (p.Glu503Asp)
c.1440A>T (p.Glu480Asp)
 gnomAD v4
2g.202552811_202552812delCA2577215739BMPR2c.1509_1510del (p.Glu503AspfsTer25)
c.1440_1441del (p.Glu480AspfsTer25)
2g.202552812C>ACA350344736BMPR2c.1510C>A (p.Leu504Ile)
c.1441C>A (p.Leu481Ile)
2g.202552812C>GCA350344738BMPR2c.1510C>G (p.Leu504Val)
c.1441C>G (p.Leu481Val)
2g.202552812C>TCA350344739BMPR2c.1510C>T (p.Leu504Phe)
c.1441C>T (p.Leu481Phe)
2g.202552813T>ACA350344742BMPR2c.1511T>A (p.Leu504His)
c.1442T>A (p.Leu481His)
2g.202552813T>CCA350344743BMPR2c.1511T>C (p.Leu504Pro)
c.1442T>C (p.Leu481Pro)
 gnomAD v4
2g.202552813T>GCA350344744BMPR2c.1511T>G (p.Leu504Arg)
c.1442T>G (p.Leu481Arg)
2g.202552814delCA2586971012BMPR2c.1512del (p.Met505Ter)
c.1443del (p.Met482Ter)
2g.202552814T>ACA430859975BMPR2c.1512T>A (p.Leu504=)
c.1443T>A (p.Leu481=)
2g.202552814T>CCA430859974BMPR2c.1512T>C (p.Leu504=)
c.1443T>C (p.Leu481=)
2g.202552814T>GCA2061382BMPR2c.1512T>G (p.Leu504=)
c.1443T>G (p.Leu481=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202552814T=CA1321556642BMPR2c.1512T= (p.Leu504=)
c.1443T= (p.Leu481=)

Number of alleles fetched