Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202547085_202553904delCA915941655BMPR2c.1413+4638_1586+1016del
c.1344+4638_1517+1016del
 ClinVar
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=)

Number of alleles fetched