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.202552755G>A | CA350344491 | BMPR2 | c.1453G>A (p.Asp485Asn) c.1384G>A (p.Asp462Asn) | ClinVar dbSNP |
2 | g.202552755G>C | CA350344492 | BMPR2 | c.1453G>C (p.Asp485His) c.1384G>C (p.Asp462His) | |
2 | g.202552755G= | CA1321556543 | BMPR2 | c.1453G= (p.Asp485=) c.1384G= (p.Asp462=) | |
2 | g.202552755G>T | CA350344493 | BMPR2 | c.1453G>T (p.Asp485Tyr) c.1384G>T (p.Asp462Tyr) | |
2 | g.202552756A= | CA1321556547 | BMPR2 | c.1454A= (p.Asp485=) c.1385A= (p.Asp462=) | |
2 | g.202552756A>C | CA350344497 | BMPR2 | c.1454A>C (p.Asp485Ala) c.1385A>C (p.Asp462Ala) | |
2 | g.202552756A>G | CA278079 | BMPR2 | c.1454A>G (p.Asp485Gly) c.1385A>G (p.Asp462Gly) | ClinVar dbSNP |
2 | g.202552756A>T | CA350344495 | BMPR2 | c.1454A>T (p.Asp485Val) c.1385A>T (p.Asp462Val) | |
2 | g.202552757C>A | CA350344499 | BMPR2 | c.1455C>A (p.Asp485Glu) c.1386C>A (p.Asp462Glu) | |
2 | g.202552757C= | CA1321556549 | BMPR2 | c.1455C= (p.Asp485=) c.1386C= (p.Asp462=) | |
2 | g.202552757C>G | CA350344500 | BMPR2 | c.1455C>G (p.Asp485Glu) c.1386C>G (p.Asp462Glu) | |
2 | g.202552757C>T | CA430859690 | BMPR2 | c.1455C>T (p.Asp485=) c.1386C>T (p.Asp462=) | dbSNP gnomAD v4 |
2 | g.202552758C>A | CA350344503 | BMPR2 | c.1456C>A (p.Gln486Lys) c.1387C>A (p.Gln463Lys) | |
2 | g.202552758C= | CA1321556554 | BMPR2 | c.1456C= (p.Gln486=) c.1387C= (p.Gln463=) | |
2 | g.202552758C>G | CA350344505 | BMPR2 | c.1456C>G (p.Gln486Glu) c.1387C>G (p.Gln463Glu) | |
2 | g.202552758C>T | CA350344506 | BMPR2 | c.1456C>T (p.Gln486Ter) c.1387C>T (p.Gln463Ter) | ClinVar dbSNP |
2 | g.202552759A>C | CA350344509 | BMPR2 | c.1457A>C (p.Gln486Pro) c.1388A>C (p.Gln463Pro) | |
2 | g.202552759A>G | CA350344511 | BMPR2 | c.1457A>G (p.Gln486Arg) c.1388A>G (p.Gln463Arg) | ClinVar dbSNP |
2 | g.202552759A>T | CA350344512 | BMPR2 | c.1457A>T (p.Gln486Leu) c.1388A>T (p.Gln463Leu) | |
2 | g.202552760G>A | CA430859699 | BMPR2 | c.1458G>A (p.Gln486=) c.1389G>A (p.Gln463=) | |
2 | g.202552760G>C | CA350344515 | BMPR2 | c.1458G>C (p.Gln486His) c.1389G>C (p.Gln463His) | |
2 | g.202552760G>T | CA350344516 | BMPR2 | c.1458G>T (p.Gln486His) c.1389G>T (p.Gln463His) | |
2 | g.202552761G>A | CA350344519 | BMPR2 | c.1459G>A (p.Asp487Asn) c.1390G>A (p.Asp464Asn) | |
2 | g.202552761G>C | CA350344517 | BMPR2 | c.1459G>C (p.Asp487His) c.1390G>C (p.Asp464His) | |
2 | g.202552761G= | CA1321556556 | BMPR2 | c.1459G= (p.Asp487=) c.1390G= (p.Asp464=) | |
2 | g.202552761G>T | CA324334 | BMPR2 | c.1459G>T (p.Asp487Tyr) c.1390G>T (p.Asp464Tyr) | ClinVar dbSNP |
2 | g.202552762A= | CA1321556559 | BMPR2 | c.1460A= (p.Asp487=) c.1391A= (p.Asp464=) | |
2 | g.202552762A>C | CA350344522 | BMPR2 | c.1460A>C (p.Asp487Ala) c.1391A>C (p.Asp464Ala) | |
2 | g.202552762A>G | CA350344523 | BMPR2 | c.1460A>G (p.Asp487Gly) c.1391A>G (p.Asp464Gly) | |
2 | g.202552762A>T | CA350344525 | BMPR2 | c.1460A>T (p.Asp487Val) c.1391A>T (p.Asp464Val) | ClinVar dbSNP |
2 | g.202552763T>A | CA350344528 | BMPR2 | c.1461T>A (p.Asp487Glu) c.1392T>A (p.Asp464Glu) | |
2 | g.202552763T>C | CA430859716 | BMPR2 | c.1461T>C (p.Asp487=) c.1392T>C (p.Asp464=) | |
2 | g.202552763T>G | CA350344529 | BMPR2 | c.1461T>G (p.Asp487Glu) c.1392T>G (p.Asp464Glu) | ClinVar dbSNP |
2 | g.202552764G>A | CA350344531 | BMPR2 | c.1462G>A (p.Ala488Thr) c.1393G>A (p.Ala465Thr) | |
2 | g.202552764G>C | CA350344533 | BMPR2 | c.1462G>C (p.Ala488Pro) c.1393G>C (p.Ala465Pro) | |
2 | g.202552764G>T | CA350344535 | BMPR2 | c.1462G>T (p.Ala488Ser) c.1393G>T (p.Ala465Ser) | |
2 | g.202552765C>A | CA350344537 | BMPR2 | c.1463C>A (p.Ala488Glu) c.1394C>A (p.Ala465Glu) | |
2 | g.202552765C>G | CA350344539 | BMPR2 | c.1463C>G (p.Ala488Gly) c.1394C>G (p.Ala465Gly) | |
2 | g.202552765C>T | CA350344541 | BMPR2 | c.1463C>T (p.Ala488Val) c.1394C>T (p.Ala465Val) | |
2 | g.202552766A>C | CA430859726 | BMPR2 | c.1464A>C (p.Ala488=) c.1395A>C (p.Ala465=) | |
2 | g.202552766A>G | CA430859730 | BMPR2 | c.1464A>G (p.Ala488=) c.1395A>G (p.Ala465=) | |
2 | g.202552766A>T | CA430859729 | BMPR2 | c.1464A>T (p.Ala488=) c.1395A>T (p.Ala465=) | |
2 | g.202552767G>A | CA350344547 | BMPR2 | c.1465G>A (p.Glu489Lys) c.1396G>A (p.Glu466Lys) | |
2 | g.202552767G>C | CA350344545 | BMPR2 | c.1465G>C (p.Glu489Gln) c.1396G>C (p.Glu466Gln) | |
2 | g.202552767G>T | CA350344544 | BMPR2 | c.1465G>T (p.Glu489Ter) c.1396G>T (p.Glu466Ter) | |
2 | g.202552768A>C | CA350344549 | BMPR2 | c.1466A>C (p.Glu489Ala) c.1397A>C (p.Glu466Ala) | |
2 | g.202552768A>G | CA350344551 | BMPR2 | c.1466A>G (p.Glu489Gly) c.1397A>G (p.Glu466Gly) | |
2 | g.202552768A>T | CA350344553 | BMPR2 | c.1466A>T (p.Glu489Val) c.1397A>T (p.Glu466Val) | |
2 | g.202552769G>A | CA430859740 | BMPR2 | c.1467G>A (p.Glu489=) c.1398G>A (p.Glu466=) |