Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202547085_202553904del | CA915941655 | BMPR2 | c.1413+4638_1586+1016del c.1344+4638_1517+1016del | ClinVar |
2 | g.202552840_202552841insCCTGGGAAAGAAACAAATC | CA2662706607 | BMPR2 | c.1538_1539insCCTGGGAAAGAAACAAATC (p.Val514LeufsTer21) c.1469_1470insCCTGGGAAAGAAACAAATC (p.Val491LeufsTer21) | gnomAD v4 |
2 | g.202552827G>A | CA350344814 | BMPR2 | c.1525G>A (p.Glu509Lys) c.1456G>A (p.Glu486Lys) | |
2 | g.202552827G>C | CA350344811 | BMPR2 | c.1525G>C (p.Glu509Gln) c.1456G>C (p.Glu486Gln) | |
2 | g.202552827G= | CA1321556676 | BMPR2 | c.1525G= (p.Glu509=) c.1456G= (p.Glu486=) | |
2 | g.202552827G>T | CA350344812 | BMPR2 | c.1525G>T (p.Glu509Ter) c.1456G>T (p.Glu486Ter) | ClinVar dbSNP |
2 | g.202552828A>C | CA350344816 | BMPR2 | c.1526A>C (p.Glu509Ala) c.1457A>C (p.Glu486Ala) | |
2 | g.202552828A>G | CA350344818 | BMPR2 | c.1526A>G (p.Glu509Gly) c.1457A>G (p.Glu486Gly) | |
2 | g.202552828A>T | CA350344820 | BMPR2 | c.1526A>T (p.Glu509Val) c.1457A>T (p.Glu486Val) | |
2 | g.202552829A>C | CA350344822 | BMPR2 | c.1527A>C (p.Glu509Asp) c.1458A>C (p.Glu486Asp) | |
2 | g.202552829A>G | CA430860047 | BMPR2 | c.1527A>G (p.Glu509=) c.1458A>G (p.Glu486=) | gnomAD v4 |
2 | g.202552829A>T | CA350344824 | BMPR2 | c.1527A>T (p.Glu509Asp) c.1458A>T (p.Glu486Asp) | |
2 | g.202552830A>C | CA430860052 | BMPR2 | c.1528A>C (p.Arg510=) c.1459A>C (p.Arg487=) | |
2 | g.202552830A>G | CA350344826 | BMPR2 | c.1528A>G (p.Arg510Gly) c.1459A>G (p.Arg487Gly) | gnomAD v4 |
2 | g.202552830A>T | CA350344827 | BMPR2 | c.1528A>T (p.Arg510Ter) c.1459A>T (p.Arg487Ter) | |
2 | g.202552831G>A | CA350344830 | BMPR2 | c.1529G>A (p.Arg510Lys) c.1460G>A (p.Arg487Lys) | |
2 | g.202552831G>C | CA350344832 | BMPR2 | c.1529G>C (p.Arg510Thr) c.1460G>C (p.Arg487Thr) | |
2 | g.202552831G>T | CA350344833 | BMPR2 | c.1529G>T (p.Arg510Ile) c.1460G>T (p.Arg487Ile) | |
2 | g.202552832A>C | CA350344836 | BMPR2 | c.1530A>C (p.Arg510Ser) c.1461A>C (p.Arg487Ser) | |
2 | g.202552832A>G | CA430860058 | BMPR2 | c.1530A>G (p.Arg510=) c.1461A>G (p.Arg487=) | |
2 | g.202552832A>T | CA350344837 | BMPR2 | c.1530A>T (p.Arg510Ser) c.1461A>T (p.Arg487Ser) | |
2 | g.202552833A= | CA1321556682 | BMPR2 | c.1531A= (p.Asn511=) c.1462A= (p.Asn488=) | |
2 | g.202552833A>C | CA350344841 | BMPR2 | c.1531A>C (p.Asn511His) c.1462A>C (p.Asn488His) | |
2 | g.202552833A>G | CA350344839 | BMPR2 | c.1531A>G (p.Asn511Asp) c.1462A>G (p.Asn488Asp) | |
2 | g.202552833A>T | CA2061386 | BMPR2 | c.1531A>T (p.Asn511Tyr) c.1462A>T (p.Asn488Tyr) | dbSNP ExAC |
2 | g.202552834A>C | CA350344843 | BMPR2 | c.1532A>C (p.Asn511Thr) c.1463A>C (p.Asn488Thr) | |
2 | g.202552834A>G | CA350344844 | BMPR2 | c.1532A>G (p.Asn511Ser) c.1463A>G (p.Asn488Ser) | |
2 | g.202552834A>T | CA350344846 | BMPR2 | c.1532A>T (p.Asn511Ile) c.1463A>T (p.Asn488Ile) | |
2 | g.202552835C>A | CA350344848 | BMPR2 | c.1533C>A (p.Asn511Lys) c.1464C>A (p.Asn488Lys) | |
2 | g.202552835C>G | CA350344850 | BMPR2 | c.1533C>G (p.Asn511Lys) c.1464C>G (p.Asn488Lys) | |
2 | g.202552835C>T | CA430860072 | BMPR2 | c.1533C>T (p.Asn511=) c.1464C>T (p.Asn488=) | |
2 | g.202552835_202552836delinsCA | CA1321556688 | BMPR2 | c.1533_1534delinsCA (p.Asn511=) c.1464_1465delinsCA (p.Asn488=) | |
2 | g.202552836A>C | CA350344853 | BMPR2 | c.1534A>C (p.Lys512Gln) c.1465A>C (p.Lys489Gln) | |
2 | g.202552836A>G | CA350344857 | BMPR2 | c.1534A>G (p.Lys512Glu) c.1465A>G (p.Lys489Glu) | |
2 | g.202552836A>T | CA350344859 | BMPR2 | c.1534A>T (p.Lys512Ter) c.1465A>T (p.Lys489Ter) | gnomAD v4 |
2 | g.202552838del | CA915941657 | BMPR2 | c.1536del (p.Lys512AsnfsTer3) c.1467del (p.Lys489AsnfsTer3) | ClinVar dbSNP |
2 | g.202552837A= | CA1321556700 | BMPR2 | c.1535A= (p.Lys512=) c.1466A= (p.Lys489=) | |
2 | g.202552837A>C | CA350344862 | BMPR2 | c.1535A>C (p.Lys512Thr) c.1466A>C (p.Lys489Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.202552837A>G | CA350344863 | BMPR2 | c.1535A>G (p.Lys512Arg) c.1466A>G (p.Lys489Arg) | ClinVar dbSNP |
2 | g.202552837A>T | CA350344868 | BMPR2 | c.1535A>T (p.Lys512Ile) c.1466A>T (p.Lys489Ile) | |
2 | g.202552838A>C | CA350344870 | BMPR2 | c.1536A>C (p.Lys512Asn) c.1467A>C (p.Lys489Asn) | |
2 | g.202552838A>G | CA430860080 | BMPR2 | c.1536A>G (p.Lys512=) c.1467A>G (p.Lys489=) | |
2 | g.202552838A>T | CA350344872 | BMPR2 | c.1536A>T (p.Lys512Asn) c.1467A>T (p.Lys489Asn) | |
2 | g.202552839T>A | CA350344878 | BMPR2 | c.1537T>A (p.Ser513Thr) c.1468T>A (p.Ser490Thr) | |
2 | g.202552839T>C | CA350344874 | BMPR2 | c.1537T>C (p.Ser513Pro) c.1468T>C (p.Ser490Pro) | |
2 | g.202552839T>G | CA350344876 | BMPR2 | c.1537T>G (p.Ser513Ala) c.1468T>G (p.Ser490Ala) | |
2 | g.202552840C>A | CA350344881 | BMPR2 | c.1538C>A (p.Ser513Tyr) c.1469C>A (p.Ser490Tyr) | |
2 | g.202552840C>G | CA350344883 | BMPR2 | c.1538C>G (p.Ser513Cys) c.1469C>G (p.Ser490Cys) | gnomAD v4 |
2 | g.202552840C>T | CA350344885 | BMPR2 | c.1538C>T (p.Ser513Phe) c.1469C>T (p.Ser490Phe) | |
2 | g.202552841T>A | CA430860098 | BMPR2 | c.1539T>A (p.Ser513=) c.1470T>A (p.Ser490=) |