Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202547085_202553904delCA915941655BMPR2c.1413+4638_1586+1016del
c.1344+4638_1517+1016del
 ClinVar
2g.202552840_202552841insCCTGGGAAAGAAACAAATCCA2662706607BMPR2c.1538_1539insCCTGGGAAAGAAACAAATC (p.Val514LeufsTer21)
c.1469_1470insCCTGGGAAAGAAACAAATC (p.Val491LeufsTer21)
 gnomAD v4
2g.202552829A>CCA350344822BMPR2c.1527A>C (p.Glu509Asp)
c.1458A>C (p.Glu486Asp)
2g.202552829A>GCA430860047BMPR2c.1527A>G (p.Glu509=)
c.1458A>G (p.Glu486=)
 gnomAD v4
2g.202552829A>TCA350344824BMPR2c.1527A>T (p.Glu509Asp)
c.1458A>T (p.Glu486Asp)
2g.202552830A>CCA430860052BMPR2c.1528A>C (p.Arg510=)
c.1459A>C (p.Arg487=)
2g.202552830A>GCA350344826BMPR2c.1528A>G (p.Arg510Gly)
c.1459A>G (p.Arg487Gly)
 gnomAD v4
2g.202552830A>TCA350344827BMPR2c.1528A>T (p.Arg510Ter)
c.1459A>T (p.Arg487Ter)
2g.202552831G>ACA350344830BMPR2c.1529G>A (p.Arg510Lys)
c.1460G>A (p.Arg487Lys)
2g.202552831G>CCA350344832BMPR2c.1529G>C (p.Arg510Thr)
c.1460G>C (p.Arg487Thr)
2g.202552831G>TCA350344833BMPR2c.1529G>T (p.Arg510Ile)
c.1460G>T (p.Arg487Ile)
2g.202552832A>CCA350344836BMPR2c.1530A>C (p.Arg510Ser)
c.1461A>C (p.Arg487Ser)
2g.202552832A>GCA430860058BMPR2c.1530A>G (p.Arg510=)
c.1461A>G (p.Arg487=)
2g.202552832A>TCA350344837BMPR2c.1530A>T (p.Arg510Ser)
c.1461A>T (p.Arg487Ser)
2g.202552833A=CA1321556682BMPR2c.1531A= (p.Asn511=)
c.1462A= (p.Asn488=)
2g.202552833A>CCA350344841BMPR2c.1531A>C (p.Asn511His)
c.1462A>C (p.Asn488His)
2g.202552833A>GCA350344839BMPR2c.1531A>G (p.Asn511Asp)
c.1462A>G (p.Asn488Asp)
2g.202552833A>TCA2061386BMPR2c.1531A>T (p.Asn511Tyr)
c.1462A>T (p.Asn488Tyr)
 dbSNP ExAC
2g.202552834A>CCA350344843BMPR2c.1532A>C (p.Asn511Thr)
c.1463A>C (p.Asn488Thr)
2g.202552834A>GCA350344844BMPR2c.1532A>G (p.Asn511Ser)
c.1463A>G (p.Asn488Ser)
2g.202552834A>TCA350344846BMPR2c.1532A>T (p.Asn511Ile)
c.1463A>T (p.Asn488Ile)
2g.202552835C>ACA350344848BMPR2c.1533C>A (p.Asn511Lys)
c.1464C>A (p.Asn488Lys)
2g.202552835C>GCA350344850BMPR2c.1533C>G (p.Asn511Lys)
c.1464C>G (p.Asn488Lys)
2g.202552835C>TCA430860072BMPR2c.1533C>T (p.Asn511=)
c.1464C>T (p.Asn488=)
2g.202552835_202552836delinsCACA1321556688BMPR2c.1533_1534delinsCA (p.Asn511=)
c.1464_1465delinsCA (p.Asn488=)
2g.202552836A>CCA350344853BMPR2c.1534A>C (p.Lys512Gln)
c.1465A>C (p.Lys489Gln)
2g.202552836A>GCA350344857BMPR2c.1534A>G (p.Lys512Glu)
c.1465A>G (p.Lys489Glu)
2g.202552836A>TCA350344859BMPR2c.1534A>T (p.Lys512Ter)
c.1465A>T (p.Lys489Ter)
 gnomAD v4
2g.202552838delCA915941657BMPR2c.1536del (p.Lys512AsnfsTer3)
c.1467del (p.Lys489AsnfsTer3)
 ClinVar dbSNP
2g.202552837A=CA1321556700BMPR2c.1535A= (p.Lys512=)
c.1466A= (p.Lys489=)
2g.202552837A>CCA350344862BMPR2c.1535A>C (p.Lys512Thr)
c.1466A>C (p.Lys489Thr)
 ClinVar dbSNP gnomAD v4
2g.202552837A>GCA350344863BMPR2c.1535A>G (p.Lys512Arg)
c.1466A>G (p.Lys489Arg)
 ClinVar dbSNP
2g.202552837A>TCA350344868BMPR2c.1535A>T (p.Lys512Ile)
c.1466A>T (p.Lys489Ile)
2g.202552838A>CCA350344870BMPR2c.1536A>C (p.Lys512Asn)
c.1467A>C (p.Lys489Asn)
2g.202552838A>GCA430860080BMPR2c.1536A>G (p.Lys512=)
c.1467A>G (p.Lys489=)
2g.202552838A>TCA350344872BMPR2c.1536A>T (p.Lys512Asn)
c.1467A>T (p.Lys489Asn)
2g.202552839T>ACA350344878BMPR2c.1537T>A (p.Ser513Thr)
c.1468T>A (p.Ser490Thr)
2g.202552839T>CCA350344874BMPR2c.1537T>C (p.Ser513Pro)
c.1468T>C (p.Ser490Pro)
2g.202552839T>GCA350344876BMPR2c.1537T>G (p.Ser513Ala)
c.1468T>G (p.Ser490Ala)
2g.202552840C>ACA350344881BMPR2c.1538C>A (p.Ser513Tyr)
c.1469C>A (p.Ser490Tyr)
2g.202552840C>GCA350344883BMPR2c.1538C>G (p.Ser513Cys)
c.1469C>G (p.Ser490Cys)
 gnomAD v4
2g.202552840C>TCA350344885BMPR2c.1538C>T (p.Ser513Phe)
c.1469C>T (p.Ser490Phe)
2g.202552841T>ACA430860098BMPR2c.1539T>A (p.Ser513=)
c.1470T>A (p.Ser490=)
2g.202552841T>CCA430860100BMPR2c.1539T>C (p.Ser513=)
c.1470T>C (p.Ser490=)
2g.202552841T>GCA430860101BMPR2c.1539T>G (p.Ser513=)
c.1470T>G (p.Ser490=)
2g.202552843_202552844delCA2662706608BMPR2c.1541_1542del (p.Val514GlufsTer14)
c.1472_1473del (p.Val491GlufsTer14)
 gnomAD v4
2g.202552842G>ACA350344887BMPR2c.1540G>A (p.Val514Met)
c.1471G>A (p.Val491Met)
 gnomAD v4
2g.202552842G>CCA2061387BMPR2c.1540G>C (p.Val514Leu)
c.1471G>C (p.Val491Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202552842G=CA1321556705BMPR2c.1540G= (p.Val514=)
c.1471G= (p.Val491=)
2g.202552842G>TCA350344890BMPR2c.1540G>T (p.Val514Leu)
c.1471G>T (p.Val491Leu)
2g.202552843T>ACA350344892BMPR2c.1541T>A (p.Val514Glu)
c.1472T>A (p.Val491Glu)
2g.202552843T>CCA350344893BMPR2c.1541T>C (p.Val514Ala)
c.1472T>C (p.Val491Ala)
2g.202552843T>GCA350344895BMPR2c.1541T>G (p.Val514Gly)
c.1472T>G (p.Val491Gly)
2g.202552844G>ACA2061388BMPR2c.1542G>A (p.Val514=)
c.1473G>A (p.Val491=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202552844G>CCA430860119BMPR2c.1542G>C (p.Val514=)
c.1473G>C (p.Val491=)
2g.202552844G=CA1321556710BMPR2c.1542G= (p.Val514=)
c.1473G= (p.Val491=)
2g.202552844G>TCA430860121BMPR2c.1542G>T (p.Val514=)
c.1473G>T (p.Val491=)
2g.202552845A>CCA350344899BMPR2c.1543A>C (p.Ser515Arg)
c.1474A>C (p.Ser492Arg)
2g.202552845A>GCA350344900BMPR2c.1543A>G (p.Ser515Gly)
c.1474A>G (p.Ser492Gly)
2g.202552845A>TCA350344902BMPR2c.1543A>T (p.Ser515Cys)
c.1474A>T (p.Ser492Cys)
2g.202552846G>ACA350344909BMPR2c.1544G>A (p.Ser515Asn)
c.1475G>A (p.Ser492Asn)
2g.202552846G>CCA350344904BMPR2c.1544G>C (p.Ser515Thr)
c.1475G>C (p.Ser492Thr)
2g.202552846G>TCA350344906BMPR2c.1544G>T (p.Ser515Ile)
c.1475G>T (p.Ser492Ile)
2g.202552847C>ACA350344912BMPR2c.1545C>A (p.Ser515Arg)
c.1476C>A (p.Ser492Arg)
2g.202552847C=CA1321556713BMPR2c.1545C= (p.Ser515=)
c.1476C= (p.Ser492=)
2g.202552847C>GCA350344913BMPR2c.1545C>G (p.Ser515Arg)
c.1476C>G (p.Ser492Arg)
2g.202552847C>TCA2061389BMPR2c.1545C>T (p.Ser515=)
c.1476C>T (p.Ser492=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202552848C>ACA350344916BMPR2c.1546C>A (p.Pro516Thr)
c.1477C>A (p.Pro493Thr)
 gnomAD v4
2g.202552848C>GCA350344918BMPR2c.1546C>G (p.Pro516Ala)
c.1477C>G (p.Pro493Ala)
 gnomAD v4
2g.202552848C>TCA350344920BMPR2c.1546C>T (p.Pro516Ser)
c.1477C>T (p.Pro493Ser)
 gnomAD v4
2g.202552849C>ACA350344922BMPR2c.1547C>A (p.Pro516Gln)
c.1478C>A (p.Pro493Gln)
2g.202552849C>GCA350344924BMPR2c.1547C>G (p.Pro516Arg)
c.1478C>G (p.Pro493Arg)
2g.202552849C>TCA350344926BMPR2c.1547C>T (p.Pro516Leu)
c.1478C>T (p.Pro493Leu)
2g.202552850A>CCA430860139BMPR2c.1548A>C (p.Pro516=)
c.1479A>C (p.Pro493=)
2g.202552850A>GCA430860140BMPR2c.1548A>G (p.Pro516=)
c.1479A>G (p.Pro493=)
2g.202552850A>TCA430860144BMPR2c.1548A>T (p.Pro516=)
c.1479A>T (p.Pro493=)
2g.202552851delCA2580065454BMPR2c.1549del (p.Thr517GlnfsTer?)
c.1480del (p.Thr494GlnfsTer?)
 ClinVar
2g.202552850_202552852delinsAACCA1321556718BMPR2c.1548_1550delinsAAC (p.Pro516=)
c.1479_1481delinsAAC (p.Pro493=)
2g.202552851A=CA1321556721BMPR2c.1549A= (p.Thr517=)
c.1480A= (p.Thr494=)
2g.202552851A>CCA350344928BMPR2c.1549A>C (p.Thr517Pro)
c.1480A>C (p.Thr494Pro)
2g.202552851A>GCA350344930BMPR2c.1549A>G (p.Thr517Ala)
c.1480A>G (p.Thr494Ala)
 dbSNP gnomAD v4
2g.202552851A>TCA350344932BMPR2c.1549A>T (p.Thr517Ser)
c.1480A>T (p.Thr494Ser)
2g.202552852_202552853delCA1321556723BMPR2c.1550_1551del (p.Thr517SerfsTer11)
c.1481_1482del (p.Thr494SerfsTer11)
 dbSNP
2g.202552852C>ACA350344934BMPR2c.1550C>A (p.Thr517Lys)
c.1481C>A (p.Thr494Lys)
2g.202552852C=CA1321556726BMPR2c.1550C= (p.Thr517=)
c.1481C= (p.Thr494=)
2g.202552852C>GCA350344938BMPR2c.1550C>G (p.Thr517Arg)
c.1481C>G (p.Thr494Arg)
2g.202552852C>TCA350344936BMPR2c.1550C>T (p.Thr517Ile)
c.1481C>T (p.Thr494Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.202552853A>CCA430860157BMPR2c.1551A>C (p.Thr517=)
c.1482A>C (p.Thr494=)
2g.202552853A>GCA430860159BMPR2c.1551A>G (p.Thr517=)
c.1482A>G (p.Thr494=)
 gnomAD v4
2g.202552853A>TCA430860161BMPR2c.1551A>T (p.Thr517=)
c.1482A>T (p.Thr494=)
2g.202552854G>ACA350344940BMPR2c.1552G>A (p.Val518Ile)
c.1483G>A (p.Val495Ile)
2g.202552854G>CCA350344942BMPR2c.1552G>C (p.Val518Leu)
c.1483G>C (p.Val495Leu)
2g.202552854G>TCA350344944BMPR2c.1552G>T (p.Val518Phe)
c.1483G>T (p.Val495Phe)
2g.202552855T>ACA350344946BMPR2c.1553T>A (p.Val518Asp)
c.1484T>A (p.Val495Asp)
 gnomAD v4
2g.202552855T>CCA350344948BMPR2c.1553T>C (p.Val518Ala)
c.1484T>C (p.Val495Ala)
2g.202552855T>GCA350344950BMPR2c.1553T>G (p.Val518Gly)
c.1484T>G (p.Val495Gly)
2g.202552856C>ACA430860173BMPR2c.1554C>A (p.Val518=)
c.1485C>A (p.Val495=)
 gnomAD v4
2g.202552856C>GCA430860171BMPR2c.1554C>G (p.Val518=)
c.1485C>G (p.Val495=)
2g.202552856C>TCA430860170BMPR2c.1554C>T (p.Val518=)
c.1485C>T (p.Val495=)
2g.202552857A>CCA350344956BMPR2c.1555A>C (p.Asn519His)
c.1486A>C (p.Asn496His)
2g.202552857A>GCA350344952BMPR2c.1555A>G (p.Asn519Asp)
c.1486A>G (p.Asn496Asp)
2g.202552857A>TCA350344954BMPR2c.1555A>T (p.Asn519Tyr)
c.1486A>T (p.Asn496Tyr)
2g.202552858A=CA1321556729BMPR2c.1556A= (p.Asn519=)
c.1487A= (p.Asn496=)
2g.202552858A>CCA350344959BMPR2c.1556A>C (p.Asn519Thr)
c.1487A>C (p.Asn496Thr)
2g.202552858A>GCA350344960BMPR2c.1556A>G (p.Asn519Ser)
c.1487A>G (p.Asn496Ser)
 gnomAD v4
2g.202552858A>TCA350344962BMPR2c.1556A>T (p.Asn519Ile)
c.1487A>T (p.Asn496Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202552859T>ACA350344965BMPR2c.1557T>A (p.Asn519Lys)
c.1488T>A (p.Asn496Lys)
 ClinVar dbSNP
2g.202552859T>CCA430860181BMPR2c.1557T>C (p.Asn519=)
c.1488T>C (p.Asn496=)
2g.202552859T>GCA350344966BMPR2c.1557T>G (p.Asn519Lys)
c.1488T>G (p.Asn496Lys)
2g.202552859T=CA1321556734BMPR2c.1557T= (p.Asn519=)
c.1488T= (p.Asn496=)
2g.202552860C>ACA350344972BMPR2c.1558C>A (p.Pro520Thr)
c.1489C>A (p.Pro497Thr)
2g.202552860C=CA1321556738BMPR2c.1558C= (p.Pro520=)
c.1489C= (p.Pro497=)
2g.202552860C>GCA350344968BMPR2c.1558C>G (p.Pro520Ala)
c.1489C>G (p.Pro497Ala)
2g.202552860C>TCA350344970BMPR2c.1558C>T (p.Pro520Ser)
c.1489C>T (p.Pro497Ser)
 dbSNP
2g.202552861C>ACA350344974BMPR2c.1559C>A (p.Pro520Gln)
c.1490C>A (p.Pro497Gln)
2g.202552861C=CA1321556744BMPR2c.1559C= (p.Pro520=)
c.1490C= (p.Pro497=)
2g.202552861C>GCA350344976BMPR2c.1559C>G (p.Pro520Arg)
c.1490C>G (p.Pro497Arg)
2g.202552861C>TCA350344978BMPR2c.1559C>T (p.Pro520Leu)
c.1490C>T (p.Pro497Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202552862A>CCA430860200BMPR2c.1560A>C (p.Pro520=)
c.1491A>C (p.Pro497=)
2g.202552862A>GCA430860210BMPR2c.1560A>G (p.Pro520=)
c.1491A>G (p.Pro497=)
2g.202552862A>TCA430860203BMPR2c.1560A>T (p.Pro520=)
c.1491A>T (p.Pro497=)
2g.202552863A=CA1321556750BMPR2c.1561A= (p.Met521=)
c.1492A= (p.Met498=)
2g.202552863A>CCA350344980BMPR2c.1561A>C (p.Met521Leu)
c.1492A>C (p.Met498Leu)
 gnomAD v4
2g.202552863A>GCA350344981BMPR2c.1561A>G (p.Met521Val)
c.1492A>G (p.Met498Val)
 gnomAD v4 COSMIC
2g.202552863A>TCA350344983BMPR2c.1561A>T (p.Met521Leu)
c.1492A>T (p.Met498Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.202552863_202552864insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTCCA2740359266BMPR2c.1561_1562insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC (p.Met521delinsSerLeuLeuAspSerSerLeuThrPhePheProPheSerLeuGluGlnLeuCysSerLeu)
c.1492_1493insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC (p.Met498delinsSerLeuLeuAspSerSerLeuThrPhePheProPheSerLeuGluGlnLeuCysSerLeu)
2g.202552864T>ACA350344984BMPR2c.1562T>A (p.Met521Lys)
c.1493T>A (p.Met498Lys)
 gnomAD v4
2g.202552864T>CCA350344986BMPR2c.1562T>C (p.Met521Thr)
c.1493T>C (p.Met498Thr)
 gnomAD v4
2g.202552864T>GCA350344988BMPR2c.1562T>G (p.Met521Arg)
c.1493T>G (p.Met498Arg)
2g.202552865G>ACA350344990BMPR2c.1563G>A (p.Met521Ile)
c.1494G>A (p.Met498Ile)
2g.202552865G>CCA350344992BMPR2c.1563G>C (p.Met521Ile)
c.1494G>C (p.Met498Ile)
2g.202552865G>TCA350344994BMPR2c.1563G>T (p.Met521Ile)
c.1494G>T (p.Met498Ile)
2g.202552866T>ACA350344996BMPR2c.1564T>A (p.Ser522Thr)
c.1495T>A (p.Ser499Thr)
2g.202552866T>CCA350345000BMPR2c.1564T>C (p.Ser522Pro)
c.1495T>C (p.Ser499Pro)
2g.202552866T>GCA350344998BMPR2c.1564T>G (p.Ser522Ala)
c.1495T>G (p.Ser499Ala)
2g.202552867C>ACA350345002BMPR2c.1565C>A (p.Ser522Tyr)
c.1496C>A (p.Ser499Tyr)
 COSMIC
2g.202552867C>GCA350345003BMPR2c.1565C>G (p.Ser522Cys)
c.1496C>G (p.Ser499Cys)
2g.202552867C>TCA350345004BMPR2c.1565C>T (p.Ser522Phe)
c.1496C>T (p.Ser499Phe)
2g.202552868T>ACA430860235BMPR2c.1566T>A (p.Ser522=)
c.1497T>A (p.Ser499=)
2g.202552868T>CCA430860236BMPR2c.1566T>C (p.Ser522=)
c.1497T>C (p.Ser499=)
2g.202552868T>GCA430860237BMPR2c.1566T>G (p.Ser522=)
c.1497T>G (p.Ser499=)
2g.202552869A=CA1321556753BMPR2c.1567A= (p.Thr523=)
c.1498A= (p.Thr500=)
2g.202552869A>CCA350345006BMPR2c.1567A>C (p.Thr523Pro)
c.1498A>C (p.Thr500Pro)
2g.202552869A>GCA2061390BMPR2c.1567A>G (p.Thr523Ala)
c.1498A>G (p.Thr500Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202552869A>TCA350345009BMPR2c.1567A>T (p.Thr523Ser)
c.1498A>T (p.Thr500Ser)
2g.202552870C>ACA350345011BMPR2c.1568C>A (p.Thr523Asn)
c.1499C>A (p.Thr500Asn)
2g.202552870C>GCA350345013BMPR2c.1568C>G (p.Thr523Ser)
c.1499C>G (p.Thr500Ser)
2g.202552870C>TCA350345015BMPR2c.1568C>T (p.Thr523Ile)
c.1499C>T (p.Thr500Ile)
 gnomAD v4
2g.202552871T>ACA430860249BMPR2c.1569T>A (p.Thr523=)
c.1500T>A (p.Thr500=)
2g.202552871T>CCA430860251BMPR2c.1569T>C (p.Thr523=)
c.1500T>C (p.Thr500=)
2g.202552871T>GCA430860252BMPR2c.1569T>G (p.Thr523=)
c.1500T>G (p.Thr500=)
2g.202552872G>ACA350345017BMPR2c.1570G>A (p.Ala524Thr)
c.1501G>A (p.Ala501Thr)
 gnomAD v4
2g.202552872G>CCA350345019BMPR2c.1570G>C (p.Ala524Pro)
c.1501G>C (p.Ala501Pro)
 gnomAD v4
2g.202552872G=CA1321556755BMPR2c.1570G= (p.Ala524=)
c.1501G= (p.Ala501=)
2g.202552872G>TCA350345021BMPR2c.1570G>T (p.Ala524Ser)
c.1501G>T (p.Ala501Ser)
 dbSNP
2g.202552873C>ACA350345027BMPR2c.1571C>A (p.Ala524Asp)
c.1502C>A (p.Ala501Asp)
2g.202552873C>GCA350345023BMPR2c.1571C>G (p.Ala524Gly)
c.1502C>G (p.Ala501Gly)
 gnomAD v4
2g.202552873C>TCA350345025BMPR2c.1571C>T (p.Ala524Val)
c.1502C>T (p.Ala501Val)
2g.202552874T>ACA430860257BMPR2c.1572T>A (p.Ala524=)
c.1503T>A (p.Ala501=)
2g.202552874T>CCA430860262BMPR2c.1572T>C (p.Ala524=)
c.1503T>C (p.Ala501=)
2g.202552874T>GCA430860265BMPR2c.1572T>G (p.Ala524=)
c.1503T>G (p.Ala501=)
2g.202552875A>CCA350345029BMPR2c.1573A>C (p.Met525Leu)
c.1504A>C (p.Met502Leu)
2g.202552875A>GCA350345030BMPR2c.1573A>G (p.Met525Val)
c.1504A>G (p.Met502Val)
 gnomAD v4
2g.202552875A>TCA350345032BMPR2c.1573A>T (p.Met525Leu)
c.1504A>T (p.Met502Leu)
2g.202552876T>ACA350345034BMPR2c.1574T>A (p.Met525Lys)
c.1505T>A (p.Met502Lys)
 COSMIC
2g.202552876T>CCA350345036BMPR2c.1574T>C (p.Met525Thr)
c.1505T>C (p.Met502Thr)
2g.202552876T>GCA350345038BMPR2c.1574T>G (p.Met525Arg)
c.1505T>G (p.Met502Arg)
2g.202552877G>ACA2061391BMPR2c.1575G>A (p.Met525Ile)
c.1506G>A (p.Met502Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202552877G>CCA350345042BMPR2c.1575G>C (p.Met525Ile)
c.1506G>C (p.Met502Ile)
2g.202552877G=CA1321556759BMPR2c.1575G= (p.Met525=)
c.1506G= (p.Met502=)
2g.202552877G>TCA350345043BMPR2c.1575G>T (p.Met525Ile)
c.1506G>T (p.Met502Ile)
2g.202552878C>ACA350345045BMPR2c.1576C>A (p.Gln526Lys)
c.1507C>A (p.Gln503Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.202552878C=CA1321556764BMPR2c.1576C= (p.Gln526=)
c.1507C= (p.Gln503=)
2g.202552878C>GCA2061392BMPR2c.1576C>G (p.Gln526Glu)
c.1507C>G (p.Gln503Glu)
 dbSNP ExAC gnomAD v2
2g.202552878C>TCA350345048BMPR2c.1576C>T (p.Gln526Ter)
c.1507C>T (p.Gln503Ter)
2g.202552879A=CA1321556767BMPR2c.1577A= (p.Gln526=)
c.1508A= (p.Gln503=)
2g.202552879A>CCA2061393BMPR2c.1577A>C (p.Gln526Pro)
c.1508A>C (p.Gln503Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202552879A>GCA350345053BMPR2c.1577A>G (p.Gln526Arg)
c.1508A>G (p.Gln503Arg)
 COSMIC
2g.202552879A>TCA350345050BMPR2c.1577A>T (p.Gln526Leu)
c.1508A>T (p.Gln503Leu)
2g.202552880G>ACA430860276BMPR2c.1578G>A (p.Gln526=)
c.1509G>A (p.Gln503=)
2g.202552880G>CCA350345058BMPR2c.1578G>C (p.Gln526His)
c.1509G>C (p.Gln503His)
2g.202552880G>TCA350345056BMPR2c.1578G>T (p.Gln526His)
c.1509G>T (p.Gln503His)
2g.202552881A=CA1321556769BMPR2c.1579A= (p.Asn527=)
c.1510A= (p.Asn504=)
2g.202552881A>CCA350345064BMPR2c.1579A>C (p.Asn527His)
c.1510A>C (p.Asn504His)
2g.202552881A>GCA350345060BMPR2c.1579A>G (p.Asn527Asp)
c.1510A>G (p.Asn504Asp)
2g.202552881A>TCA350345062BMPR2c.1579A>T (p.Asn527Tyr)
c.1510A>T (p.Asn504Tyr)
 dbSNP
2g.202552882A>CCA350345066BMPR2c.1580A>C (p.Asn527Thr)
c.1511A>C (p.Asn504Thr)
2g.202552882A>GCA350345068BMPR2c.1580A>G (p.Asn527Ser)
c.1511A>G (p.Asn504Ser)
2g.202552882A>TCA350345070BMPR2c.1580A>T (p.Asn527Ile)
c.1511A>T (p.Asn504Ile)
2g.202552883T>ACA350345071BMPR2c.1581T>A (p.Asn527Lys)
c.1512T>A (p.Asn504Lys)
2g.202552883T>CCA430860298BMPR2c.1581T>C (p.Asn527=)
c.1512T>C (p.Asn504=)
2g.202552883T>GCA2061394BMPR2c.1581T>G (p.Asn527Lys)
c.1512T>G (p.Asn504Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202552883T=CA1321556772BMPR2c.1581T= (p.Asn527=)
c.1512T= (p.Asn504=)
2g.202552884G>ACA350345072BMPR2c.1582G>A (p.Glu528Lys)
c.1513G>A (p.Glu505Lys)
2g.202552884G>CCA350345073BMPR2c.1582G>C (p.Glu528Gln)
c.1513G>C (p.Glu505Gln)
2g.202552884G>TCA350345074BMPR2c.1582G>T (p.Glu528Ter)
c.1513G>T (p.Glu505Ter)
2g.202552885A>CCA350345075BMPR2c.1583A>C (p.Glu528Ala)
c.1514A>C (p.Glu505Ala)
2g.202552885A>GCA350345076BMPR2c.1583A>G (p.Glu528Gly)
c.1514A>G (p.Glu505Gly)
2g.202552885A>TCA350345077BMPR2c.1583A>T (p.Glu528Val)
c.1514A>T (p.Glu505Val)
2g.202552886A>CCA350345079BMPR2c.1584A>C (p.Glu528Asp)
c.1515A>C (p.Glu505Asp)
2g.202552886A>GCA430860311BMPR2c.1584A>G (p.Glu528=)
c.1515A>G (p.Glu505=)
2g.202552886A>TCA350345078BMPR2c.1584A>T (p.Glu528Asp)
c.1515A>T (p.Glu505Asp)
2g.202552886_202552887delinsACCA1321556775BMPR2c.1584_1585delinsAC (p.Glu528=)
c.1515_1516delinsAC (n.[c.1515_1516delinsAC;Glu505=])
2g.202552887delCA645293983BMPR2c.1585del (p.Arg529AlafsTer?)
c.1516del (n.1516del)
c.1585del (p.Arg529ValfsTer?)
 ClinVar dbSNP
2g.202552887C>ACA350345080BMPR2c.1585C>A (p.Arg529Ser)
c.1516C>A (n.1516C>A)
2g.202552887C=CA1321556778BMPR2c.1585C= (p.Arg529=)
c.1516C= (n.1516C=)
2g.202552887C>GCA350345081BMPR2c.1585C>G (p.Arg529Gly)
c.1516C>G (n.1516C>G)
2g.202552887C>TCA2061395BMPR2c.1585C>T (p.Arg529Cys)
c.1516C>T (n.1516C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202552888G>ACA64041148BMPR2c.1586G>A (p.Arg529His)
c.1517G>A (n.1517G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202552888G>CCA350345082BMPR2c.1586G>C (p.Arg529Pro)
c.1517G>C (n.1517G>C)
 gnomAD v4
2g.202552888G=CA1321556780BMPR2c.1586G= (p.Arg529=)
c.1517G= (n.1517G=)
2g.202552888G>TCA350345083BMPR2c.1586G>T (p.Arg529Leu)
c.1517G>T (n.1517G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.202552889G>ACA350345084BMPR2c.1586+1G>A (n.1586+1G>A)
c.1517+1G>A (n.1517+1G>A)
2g.202552889G>CCA350345085BMPR2c.1586+1G>C (n.1586+1G>C)
c.1517+1G>C (n.1517+1G>C)
2g.202552889G=CA1321556782BMPR2c.1586+1G= (n.1586+1G=)
c.1517+1G= (n.1517+1G=)
2g.202552889G>TCA2061396BMPR2c.1586+1G>T (n.1586+1G>T)
c.1517+1G>T (n.1517+1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202552890T>ACA350345086BMPR2c.1586+2T>A (n.1586+2T>A)
c.1517+2T>A (n.1517+2T>A)
2g.202552890T>CCA350345087BMPR2c.1586+2T>C (n.1586+2T>C)
c.1517+2T>C (n.1517+2T>C)
 gnomAD v4
2g.202552890T>GCA350345088BMPR2c.1586+2T>G (n.1586+2T>G)
c.1517+2T>G (n.1517+2T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.202552890T=CA1321556783BMPR2c.1586+2T= (n.1586+2T=)
c.1517+2T= (n.1517+2T=)
2g.202552890dupCA2577215740BMPR2c.1586+2dup (n.1586+2dup)
c.1517+2dup (n.1517+2dup)
2g.202552892A=CA1321556785BMPR2c.1586+4A= (n.1586+4A=)
c.1517+4A= (n.1517+4A=)
2g.202552892A>GCA539387023BMPR2c.1586+4A>G (n.1586+4A>G)
c.1517+4A>G (n.1517+4A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.202552893G>ACA2662706609BMPR2c.1586+5G>A (n.1586+5G>A)
c.1517+5G>A (n.1517+5G>A)
 gnomAD v4
2g.202552893G>CCA2662706610BMPR2c.1586+5G>C (n.1586+5G>C)
c.1517+5G>C (n.1517+5G>C)
 gnomAD v4
2g.202552894A=CA1321556786BMPR2c.1586+6A= (n.1586+6A=)
c.1517+6A= (n.1517+6A=)
2g.202552894A>TCA2061397BMPR2c.1586+6A>T (n.1586+6A>T)
c.1517+6A>T (n.1517+6A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202552894_202552895insAGAGAAAAAATTGATTTTAGTCAGCAATGAATGTCCAATGCTTAGCTCACTCTAGGAAGCA2538523993BMPR2c.1586+6_1586+7insAGAGAAAAAATTGATTTTAGTCAGCAATGAATGTCCAATGCTTAGCTCACTCTAGGAAG (n.1586+6_1586+7insAGAGAAAAAATTGATTTTAGTCAGCAATGAATGTCCAATGCTTAGCTCACTCTAGGAAG)
c.1517+6_1517+7insAGAGAAAAAATTGATTTTAGTCAGCAATGAATGTCCAATGCTTAGCTCACTCTAGGAAG (n.1517+6_1517+7insAGAGAAAAAATTGATTTTAGTCAGCAATGAATGTCCAATGCTTAGCTCACTCTAGGAAG)
2g.202552895C=CA1321556788BMPR2c.1586+7C= (n.1586+7C=)
c.1517+7C= (n.1517+7C=)
2g.202552895_202552896insAAAGTACA539387024BMPR2c.1586+7_1586+8insAAAGTA (n.1586+7_1586+8insAAAGTA)
c.1517+7_1517+8insAAAGTA (n.1517+7_1517+8insAAAGTA)
 dbSNP gnomAD v2
2g.202552896C=CA1321556790BMPR2c.1586+8C= (n.1586+8C=)
c.1517+8C= (n.1517+8C=)
2g.202552896_202552897insATGTCA539387025BMPR2c.1586+8_1586+9insATGT (n.1586+8_1586+9insATGT)
c.1517+8_1517+9insATGT (n.1517+8_1517+9insATGT)
 dbSNP gnomAD v2
2g.202552898T>CCA2662706611BMPR2c.1586+10T>C (n.1586+10T>C)
c.1517+10T>C (n.1517+10T>C)
 gnomAD v4
2g.202552900A>GCA2577215741BMPR2c.1586+12A>G (n.1586+12A>G)
c.1517+12A>G (n.1517+12A>G)
2g.202552901G>ACA2662706613BMPR2c.1586+13G>A (n.1586+13G>A)
c.1517+13G>A (n.1517+13G>A)
 gnomAD v4
2g.202552904delCA2662706612BMPR2c.1586+16del (n.1586+16del)
c.1517+16del (n.1517+16del)
 gnomAD v4
2g.202552902G>ACA2753906652BMPR2c.1586+14G>A (n.1586+14G>A)
c.1517+14G>A (n.1517+14G>A)
2g.202552903G=CA1321556794BMPR2c.1586+15G= (n.1586+15G=)
c.1517+15G= (n.1517+15G=)
2g.202552903G>TCA539387026BMPR2c.1586+15G>T (n.1586+15G>T)
c.1517+15G>T (n.1517+15G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.202552904G=CA1321556796BMPR2c.1586+16G= (n.1586+16G=)
c.1517+16G= (n.1517+16G=)
2g.202552904G>TCA539387027BMPR2c.1586+16G>T (n.1586+16G>T)
c.1517+16G>T (n.1517+16G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202552906G>ACA2662706614BMPR2c.1586+18G>A (n.1586+18G>A)
c.1517+18G>A (n.1517+18G>A)
 gnomAD v4
2g.202552906G>CCA1041345522BMPR2c.1586+18G>C (n.1586+18G>C)
c.1517+18G>C (n.1517+18G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.202552906G=CA1321556797BMPR2c.1586+18G= (n.1586+18G=)
c.1517+18G= (n.1517+18G=)
2g.202552907T>ACA2553085400BMPR2c.1586+19T>A (n.1586+19T>A)
c.1517+19T>A (n.1517+19T>A)
2g.202552909dupCA2662706615BMPR2c.1586+21dup (n.1586+21dup)
c.1517+21dup (n.1517+21dup)
 gnomAD v4
2g.202552909G>ACA1321556800BMPR2c.1586+21G>A (n.1586+21G>A)
c.1517+21G>A (n.1517+21G>A)
 dbSNP
2g.202552909G=CA1321556798BMPR2c.1586+21G= (n.1586+21G=)
c.1517+21G= (n.1517+21G=)
2g.202552909G>TCA64041160BMPR2c.1586+21G>T (n.1586+21G>T)
c.1517+21G>T (n.1517+21G>T)
 dbSNP
2g.202552910C=CA1321556801BMPR2c.1586+22C= (n.1586+22C=)
c.1517+22C= (n.1517+22C=)
2g.202552910C>TCA64041161BMPR2c.1586+22C>T (n.1586+22C>T)
c.1517+22C>T (n.1517+22C>T)
 dbSNP
2g.202552911A=CA1321556804BMPR2c.1586+23A= (n.1586+23A=)
c.1517+23A= (n.1517+23A=)
2g.202552911A>GCA430860330BMPR2c.1586+23A>G (n.1586+23A>G)
c.1517+23A>G (n.1517+23A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.202552911A>TCA2662706616BMPR2c.1586+23A>T (n.1586+23A>T)
c.1517+23A>T (n.1517+23A>T)
 gnomAD v4
2g.202552913dupCA2662706617BMPR2c.1586+25dup (n.1586+25dup)
c.1517+25dup (n.1517+25dup)
 gnomAD v4
2g.202552915_202552920delCA2753906653BMPR2c.1586+27_1586+32del (n.1586+27_1586+32del)
c.1517+27_1517+32del (n.1517+27_1517+32del)
2g.202552915A=CA1321556807BMPR2c.1586+27A= (n.1586+27A=)
c.1517+27A= (n.1517+27A=)
2g.202552915A>GCA2061398BMPR2c.1586+27A>G (n.1586+27A>G)
c.1517+27A>G (n.1517+27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202552916T>CCA2577215742BMPR2c.1586+28T>C (n.1586+28T>C)
c.1517+28T>C (n.1517+28T>C)
2g.202552917C=CA1321556810BMPR2c.1586+29C= (n.1586+29C=)
c.1517+29C= (n.1517+29C=)
2g.202552917C>TCA1041345525BMPR2c.1586+29C>T (n.1586+29C>T)
c.1517+29C>T (n.1517+29C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.202552918A=CA1321556812BMPR2c.1586+30A= (n.1586+30A=)
c.1517+30A= (n.1517+30A=)
2g.202552918A>CCA64041169BMPR2c.1586+30A>C (n.1586+30A>C)
c.1517+30A>C (n.1517+30A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.202552918A>GCA647717978BMPR2c.1586+30A>G (n.1586+30A>G)
c.1517+30A>G (n.1517+30A>G)
 COSMIC
2g.202552919A>GCA2577215743BMPR2c.1586+31A>G (n.1586+31A>G)
c.1517+31A>G (n.1517+31A>G)
 gnomAD v4
2g.202552921C>ACA2662706618BMPR2c.1586+33C>A (n.1586+33C>A)
c.1517+33C>A (n.1517+33C>A)
 gnomAD v4
2g.202552923G>CCA1321556815BMPR2c.1586+35G>C (n.1586+35G>C)
c.1517+35G>C (n.1517+35G>C)
 dbSNP
2g.202552923G=CA1321556814BMPR2c.1586+35G= (n.1586+35G=)
c.1517+35G= (n.1517+35G=)
2g.202552925A=CA1321556818BMPR2c.1586+37A= (n.1586+37A=)
c.1517+37A= (n.1517+37A=)
2g.202552925A>GCA539387028BMPR2c.1586+37A>G (n.1586+37A>G)
c.1517+37A>G (n.1517+37A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.202552928A>GCA2577215744BMPR2c.1586+40A>G (n.1586+40A>G)
c.1517+40A>G (n.1517+40A>G)
 gnomAD v4
2g.202552929G>ACA2577215745BMPR2c.1586+41G>A (n.1586+41G>A)
c.1517+41G>A (n.1517+41G>A)
 gnomAD v4

Number of alleles fetched