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

Number of alleles fetched