Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202547085_202553904delCA915941655BMPR2c.1413+4638_1586+1016del
c.1344+4638_1517+1016del
 ClinVar
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=)
2g.202552815A=CA1321556649BMPR2c.1513A= (p.Met505=)
c.1444A= (p.Met482=)
2g.202552815A>CCA350344748BMPR2c.1513A>C (p.Met505Leu)
c.1444A>C (p.Met482Leu)
2g.202552815A>GCA350344752BMPR2c.1513A>G (p.Met505Val)
c.1444A>G (p.Met482Val)
 dbSNP gnomAD v2 gnomAD v4
2g.202552815A>TCA350344750BMPR2c.1513A>T (p.Met505Leu)
c.1444A>T (p.Met482Leu)
2g.202552815dupCA891843104BMPR2c.1513dup (p.Met505AsnfsTer24)
c.1444dup (p.Met482AsnfsTer24)
 ClinVar dbSNP gnomAD v4
2g.202552820_202552822delCA2753906651BMPR2c.1518_1520del (p.Met506del)
c.1449_1451del (p.Met483del)
2g.202552816T>ACA350344754BMPR2c.1514T>A (p.Met505Lys)
c.1445T>A (p.Met482Lys)
2g.202552816T>CCA2061383BMPR2c.1514T>C (p.Met505Thr)
c.1445T>C (p.Met482Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202552816T>GCA350344757BMPR2c.1514T>G (p.Met505Arg)
c.1445T>G (p.Met482Arg)
2g.202552816T=CA1321556651BMPR2c.1514T= (p.Met505=)
c.1445T= (p.Met482=)
2g.202552817G>ACA350344759BMPR2c.1515G>A (p.Met505Ile)
c.1446G>A (p.Met482Ile)
2g.202552817G>CCA350344761BMPR2c.1515G>C (p.Met505Ile)
c.1446G>C (p.Met482Ile)
2g.202552817G>TCA350344763BMPR2c.1515G>T (p.Met505Ile)
c.1446G>T (p.Met482Ile)
2g.202552818A=CA1321556657BMPR2c.1516A= (p.Met506=)
c.1447A= (p.Met483=)
2g.202552818A>CCA350344765BMPR2c.1516A>C (p.Met506Leu)
c.1447A>C (p.Met483Leu)
2g.202552818A>GCA2061384BMPR2c.1516A>G (p.Met506Val)
c.1447A>G (p.Met483Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202552818A>TCA350344768BMPR2c.1516A>T (p.Met506Leu)
c.1447A>T (p.Met483Leu)
2g.202552819T>ACA350344770BMPR2c.1517T>A (p.Met506Lys)
c.1448T>A (p.Met483Lys)
2g.202552819T>CCA350344772BMPR2c.1517T>C (p.Met506Thr)
c.1448T>C (p.Met483Thr)
2g.202552819T>GCA350344774BMPR2c.1517T>G (p.Met506Arg)
c.1448T>G (p.Met483Arg)
2g.202552819_202552820delinsTGCA1321556662BMPR2c.1517_1518delinsTG (p.Met506=)
c.1448_1449delinsTG (p.Met483=)
2g.202552820delCA1321556664BMPR2c.1518del (p.Met506IlefsTer9)
c.1449del (p.Met483IlefsTer9)
 dbSNP
2g.202552820G>ACA350344780BMPR2c.1518G>A (p.Met506Ile)
c.1449G>A (p.Met483Ile)
2g.202552820G>CCA350344778BMPR2c.1518G>C (p.Met506Ile)
c.1449G>C (p.Met483Ile)
2g.202552820G>TCA350344776BMPR2c.1518G>T (p.Met506Ile)
c.1449G>T (p.Met483Ile)
2g.202552821A>CCA350344782BMPR2c.1519A>C (p.Ile507Leu)
c.1450A>C (p.Ile484Leu)
2g.202552821A>GCA350344783BMPR2c.1519A>G (p.Ile507Val)
c.1450A>G (p.Ile484Val)
2g.202552821A>TCA350344785BMPR2c.1519A>T (p.Ile507Phe)
c.1450A>T (p.Ile484Phe)
2g.202552821_202552822insATCA2573051836BMPR2c.1519_1520insAT (p.Ile507AsnfsTer9)
c.1450_1451insAT (p.Ile484AsnfsTer9)
 ClinVar dbSNP
2g.202552822T>ACA350344787BMPR2c.1520T>A (p.Ile507Asn)
c.1451T>A (p.Ile484Asn)
2g.202552822T>CCA350344788BMPR2c.1520T>C (p.Ile507Thr)
c.1451T>C (p.Ile484Thr)
2g.202552822T>GCA350344790BMPR2c.1520T>G (p.Ile507Ser)
c.1451T>G (p.Ile484Ser)
2g.202552824delCA2662706606BMPR2c.1522del (p.Trp508GlyfsTer7)
c.1453del (p.Trp485GlyfsTer7)
 gnomAD v4
2g.202552823T>ACA430860019BMPR2c.1521T>A (p.Ile507=)
c.1452T>A (p.Ile484=)
 gnomAD v4
2g.202552823T>CCA430860021BMPR2c.1521T>C (p.Ile507=)
c.1452T>C (p.Ile484=)
 dbSNP
2g.202552823T>GCA350344793BMPR2c.1521T>G (p.Ile507Met)
c.1452T>G (p.Ile484Met)
2g.202552823T=CA1321556666BMPR2c.1521T= (p.Ile507=)
c.1452T= (p.Ile484=)
2g.202552824T>ACA350344795BMPR2c.1522T>A (p.Trp508Arg)
c.1453T>A (p.Trp485Arg)
2g.202552824T>CCA350344797BMPR2c.1522T>C (p.Trp508Arg)
c.1453T>C (p.Trp485Arg)
2g.202552824T>GCA350344799BMPR2c.1522T>G (p.Trp508Gly)
c.1453T>G (p.Trp485Gly)
2g.202552840_202552841insCCTGGGAAAGAAACAAATCCA2662706607BMPR2c.1538_1539insCCTGGGAAAGAAACAAATC (p.Val514LeufsTer21)
c.1469_1470insCCTGGGAAAGAAACAAATC (p.Val491LeufsTer21)
 gnomAD v4
2g.202552825G>ACA2061385BMPR2c.1523G>A (p.Trp508Ter)
c.1454G>A (p.Trp485Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202552825G>CCA350344801BMPR2c.1523G>C (p.Trp508Ser)
c.1454G>C (p.Trp485Ser)
2g.202552825G=CA1321556670BMPR2c.1523G= (p.Trp508=)
c.1454G= (p.Trp485=)
2g.202552825G>TCA350344803BMPR2c.1523G>T (p.Trp508Leu)
c.1454G>T (p.Trp485Leu)
2g.202552826G>ACA350344807BMPR2c.1524G>A (p.Trp508Ter)
c.1455G>A (p.Trp485Ter)
 ClinVar dbSNP
2g.202552826G>CCA350344808BMPR2c.1524G>C (p.Trp508Cys)
c.1455G>C (p.Trp485Cys)
2g.202552826G>TCA350344805BMPR2c.1524G>T (p.Trp508Cys)
c.1455G>T (p.Trp485Cys)
2g.202552827G>ACA350344814BMPR2c.1525G>A (p.Glu509Lys)
c.1456G>A (p.Glu486Lys)
2g.202552827G>CCA350344811BMPR2c.1525G>C (p.Glu509Gln)
c.1456G>C (p.Glu486Gln)
2g.202552827G=CA1321556676BMPR2c.1525G= (p.Glu509=)
c.1456G= (p.Glu486=)
2g.202552827G>TCA350344812BMPR2c.1525G>T (p.Glu509Ter)
c.1456G>T (p.Glu486Ter)
 ClinVar dbSNP
2g.202552828A>CCA350344816BMPR2c.1526A>C (p.Glu509Ala)
c.1457A>C (p.Glu486Ala)
2g.202552828A>GCA350344818BMPR2c.1526A>G (p.Glu509Gly)
c.1457A>G (p.Glu486Gly)
2g.202552828A>TCA350344820BMPR2c.1526A>T (p.Glu509Val)
c.1457A>T (p.Glu486Val)
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=)

Number of alleles fetched