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

Number of alleles fetched