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.202552726C>A | CA350344424 | BMPR2 | c.1424C>A (p.Ser475Ter) c.1355C>A (p.Ser452Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.202552726C= | CA1321556400 | BMPR2 | c.1424C= (p.Ser475=) c.1355C= (p.Ser452=) | |
2 | g.202552726C>G | CA350344425 | BMPR2 | c.1424C>G (p.Ser475Ter) c.1355C>G (p.Ser452Ter) | |
2 | g.202552726C>T | CA350344426 | BMPR2 | c.1424C>T (p.Ser475Leu) c.1355C>T (p.Ser452Leu) | |
2 | g.202552727A>C | CA430859548 | BMPR2 | c.1425A>C (p.Ser475=) c.1356A>C (p.Ser452=) | |
2 | g.202552727A>G | CA430859550 | BMPR2 | c.1425A>G (p.Ser475=) c.1356A>G (p.Ser452=) | |
2 | g.202552727A>T | CA430859552 | BMPR2 | c.1425A>T (p.Ser475=) c.1356A>T (p.Ser452=) | |
2 | g.202552727_202552752delinsACTCAAGGAGACAATCGAAGACTGTT | CA1321556402 | BMPR2 | c.1425_1450delinsACTCAAGGAGACAATCGAAGACTGTT (p.Ser475=) c.1356_1381delinsACTCAAGGAGACAATCGAAGACTGTT (p.Ser452=) | |
2 | g.202552728C>A | CA350344427 | BMPR2 | c.1426C>A (p.Leu476Ile) c.1357C>A (p.Leu453Ile) | |
2 | g.202552728C>G | CA350344428 | BMPR2 | c.1426C>G (p.Leu476Val) c.1357C>G (p.Leu453Val) | |
2 | g.202552728C>T | CA350344429 | BMPR2 | c.1426C>T (p.Leu476Phe) c.1357C>T (p.Leu453Phe) | |
2 | g.202552728_202552729delinsCT | CA1321556407 | BMPR2 | c.1426_1427delinsCT (p.Leu476=) c.1357_1358delinsCT (p.Leu453=) | |
2 | g.202552728_202552752del | CA320979 | BMPR2 | c.1426_1450del (p.Leu476GlyfsTer22) c.1357_1381del (p.Leu453GlyfsTer22) | ClinVar dbSNP |
2 | g.202552729del | CA645293981 | BMPR2 | c.1427del (p.Leu476ProfsTer30) c.1358del (p.Leu453ProfsTer30) | ClinVar dbSNP |
2 | g.202552729T>A | CA350344430 | BMPR2 | c.1427T>A (p.Leu476His) c.1358T>A (p.Leu453His) | |
2 | g.202552729T>C | CA350344431 | BMPR2 | c.1427T>C (p.Leu476Pro) c.1358T>C (p.Leu453Pro) | |
2 | g.202552729T>G | CA16604019 | BMPR2 | c.1427T>G (p.Leu476Arg) c.1358T>G (p.Leu453Arg) | ClinVar dbSNP |
2 | g.202552729T= | CA1321556415 | BMPR2 | c.1427T= (p.Leu476=) c.1358T= (p.Leu453=) | |
2 | g.202552730C>A | CA430859563 | BMPR2 | c.1428C>A (p.Leu476=) c.1359C>A (p.Leu453=) | |
2 | g.202552730C>G | CA430859565 | BMPR2 | c.1428C>G (p.Leu476=) c.1359C>G (p.Leu453=) | |
2 | g.202552730C>T | CA430859568 | BMPR2 | c.1428C>T (p.Leu476=) c.1359C>T (p.Leu453=) | |
2 | g.202552731A>C | CA350344432 | BMPR2 | c.1429A>C (p.Lys477Gln) c.1360A>C (p.Lys454Gln) | |
2 | g.202552731A>G | CA350344433 | BMPR2 | c.1429A>G (p.Lys477Glu) c.1360A>G (p.Lys454Glu) | ClinVar |
2 | g.202552731A>T | CA350344434 | BMPR2 | c.1429A>T (p.Lys477Ter) c.1360A>T (p.Lys454Ter) | |
2 | g.202552732A= | CA1321556422 | BMPR2 | c.1430A= (p.Lys477=) c.1361A= (p.Lys454=) | |
2 | g.202552732A>C | CA2061377 | BMPR2 | c.1430A>C (p.Lys477Thr) c.1361A>C (p.Lys454Thr) | dbSNP ExAC gnomAD v2 |
2 | g.202552732A>G | CA350344436 | BMPR2 | c.1430A>G (p.Lys477Arg) c.1361A>G (p.Lys454Arg) | dbSNP gnomAD v4 |
2 | g.202552732A>T | CA350344435 | BMPR2 | c.1430A>T (p.Lys477Met) c.1361A>T (p.Lys454Met) | |
2 | g.202552733G>A | CA430859581 | BMPR2 | c.1431G>A (p.Lys477=) c.1362G>A (p.Lys454=) | |
2 | g.202552733G>C | CA350344437 | BMPR2 | c.1431G>C (p.Lys477Asn) c.1362G>C (p.Lys454Asn) | |
2 | g.202552733G>T | CA350344438 | BMPR2 | c.1431G>T (p.Lys477Asn) c.1362G>T (p.Lys454Asn) | |
2 | g.202552734G>A | CA350344439 | BMPR2 | c.1432G>A (p.Glu478Lys) c.1363G>A (p.Glu455Lys) | |
2 | g.202552734G>C | CA350344440 | BMPR2 | c.1432G>C (p.Glu478Gln) c.1363G>C (p.Glu455Gln) | |
2 | g.202552734G= | CA1321556428 | BMPR2 | c.1432G= (p.Glu478=) c.1363G= (p.Glu455=) | |
2 | g.202552734G>T | CA350344441 | BMPR2 | c.1432G>T (p.Glu478Ter) c.1363G>T (p.Glu455Ter) | ClinVar dbSNP |
2 | g.202552735A>C | CA350344442 | BMPR2 | c.1433A>C (p.Glu478Ala) c.1364A>C (p.Glu455Ala) | |
2 | g.202552735A>G | CA350344443 | BMPR2 | c.1433A>G (p.Glu478Gly) c.1364A>G (p.Glu455Gly) | |
2 | g.202552735A>T | CA350344444 | BMPR2 | c.1433A>T (p.Glu478Val) c.1364A>T (p.Glu455Val) | |
2 | g.202552736G>A | CA430859591 | BMPR2 | c.1434G>A (p.Glu478=) c.1365G>A (p.Glu455=) | |
2 | g.202552736G>C | CA350344445 | BMPR2 | c.1434G>C (p.Glu478Asp) c.1365G>C (p.Glu455Asp) | |
2 | g.202552736G>T | CA350344446 | BMPR2 | c.1434G>T (p.Glu478Asp) c.1365G>T (p.Glu455Asp) | |
2 | g.202552737A= | CA1321556433 | BMPR2 | c.1435A= (p.Thr479=) c.1366A= (p.Thr456=) | |
2 | g.202552737A>C | CA350344447 | BMPR2 | c.1435A>C (p.Thr479Pro) c.1366A>C (p.Thr456Pro) | dbSNP |
2 | g.202552737A>G | CA350344448 | BMPR2 | c.1435A>G (p.Thr479Ala) c.1366A>G (p.Thr456Ala) | gnomAD v4 |
2 | g.202552737A>T | CA350344449 | BMPR2 | c.1435A>T (p.Thr479Ser) c.1366A>T (p.Thr456Ser) | ClinVar |
2 | g.202552738C>A | CA350344452 | BMPR2 | c.1436C>A (p.Thr479Lys) c.1367C>A (p.Thr456Lys) | |
2 | g.202552738C>G | CA350344451 | BMPR2 | c.1436C>G (p.Thr479Arg) c.1367C>G (p.Thr456Arg) | |
2 | g.202552738C>T | CA350344450 | BMPR2 | c.1436C>T (p.Thr479Ile) c.1367C>T (p.Thr456Ile) | |
2 | g.202552739A>C | CA430859605 | BMPR2 | c.1437A>C (p.Thr479=) c.1368A>C (p.Thr456=) | |
2 | g.202552739A>G | CA430859608 | BMPR2 | c.1437A>G (p.Thr479=) c.1368A>G (p.Thr456=) | |
2 | g.202552739A>T | CA430859612 | BMPR2 | c.1437A>T (p.Thr479=) c.1368A>T (p.Thr456=) | |
2 | g.202552740A= | CA1321556436 | BMPR2 | c.1438A= (p.Ile480=) c.1369A= (p.Ile457=) | |
2 | g.202552740A>C | CA350344453 | BMPR2 | c.1438A>C (p.Ile480Leu) c.1369A>C (p.Ile457Leu) | |
2 | g.202552740A>G | CA2061378 | BMPR2 | c.1438A>G (p.Ile480Val) c.1369A>G (p.Ile457Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202552740A>T | CA350344454 | BMPR2 | c.1438A>T (p.Ile480Phe) c.1369A>T (p.Ile457Phe) | |
2 | g.202552741T>A | CA350344455 | BMPR2 | c.1439T>A (p.Ile480Asn) c.1370T>A (p.Ile457Asn) | |
2 | g.202552741T>C | CA350344456 | BMPR2 | c.1439T>C (p.Ile480Thr) c.1370T>C (p.Ile457Thr) | dbSNP |
2 | g.202552741T>G | CA350344457 | BMPR2 | c.1439T>G (p.Ile480Ser) c.1370T>G (p.Ile457Ser) | |
2 | g.202552741T= | CA1321556439 | BMPR2 | c.1439T= (p.Ile480=) c.1370T= (p.Ile457=) | |
2 | g.202552742C>A | CA430859622 | BMPR2 | c.1440C>A (p.Ile480=) c.1371C>A (p.Ile457=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202552742C= | CA1321556441 | BMPR2 | c.1440C= (p.Ile480=) c.1371C= (p.Ile457=) | |
2 | g.202552742C>G | CA350344458 | BMPR2 | c.1440C>G (p.Ile480Met) c.1371C>G (p.Ile457Met) | |
2 | g.202552742C>T | CA2061379 | BMPR2 | c.1440C>T (p.Ile480=) c.1371C>T (p.Ile457=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202552742_202552745delinsCGAA | CA1321556443 | BMPR2 | c.1440_1443delinsCGAA (p.Ile480=) c.1371_1374delinsCGAA (p.Ile457=) | |
2 | g.202552743G>A | CA64041071 | BMPR2 | c.1441G>A (p.Glu481Lys) c.1372G>A (p.Glu458Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552743G>C | CA350344459 | BMPR2 | c.1441G>C (p.Glu481Gln) c.1372G>C (p.Glu458Gln) | |
2 | g.202552743G= | CA1321556447 | BMPR2 | c.1441G= (p.Glu481=) c.1372G= (p.Glu458=) | |
2 | g.202552743G>T | CA350344460 | BMPR2 | c.1441G>T (p.Glu481Ter) c.1372G>T (p.Glu458Ter) | ClinVar dbSNP |
2 | g.202552745_202552747del | CA10587994 | BMPR2 | c.1443_1445del (p.Glu481del) c.1374_1376del (p.Glu458del) | ClinVar dbSNP |
2 | g.202552744A= | CA1321556451 | BMPR2 | c.1442A= (p.Glu481=) c.1373A= (p.Glu458=) | |
2 | g.202552744A>C | CA350344461 | BMPR2 | c.1442A>C (p.Glu481Ala) c.1373A>C (p.Glu458Ala) | |
2 | g.202552744A>G | CA350344462 | BMPR2 | c.1442A>G (p.Glu481Gly) c.1373A>G (p.Glu458Gly) | dbSNP |
2 | g.202552744A>T | CA350344463 | BMPR2 | c.1442A>T (p.Glu481Val) c.1373A>T (p.Glu458Val) | |
2 | g.202552745A>C | CA350344464 | BMPR2 | c.1443A>C (p.Glu481Asp) c.1374A>C (p.Glu458Asp) | |
2 | g.202552745A>G | CA430859639 | BMPR2 | c.1443A>G (p.Glu481=) c.1374A>G (p.Glu458=) | |
2 | g.202552745A>T | CA350344465 | BMPR2 | c.1443A>T (p.Glu481Asp) c.1374A>T (p.Glu458Asp) | |
2 | g.202552746G>A | CA350344466 | BMPR2 | c.1444G>A (p.Asp482Asn) c.1375G>A (p.Asp459Asn) | |
2 | g.202552746G>C | CA350344467 | BMPR2 | c.1444G>C (p.Asp482His) c.1375G>C (p.Asp459His) | |
2 | g.202552746G>T | CA350344468 | BMPR2 | c.1444G>T (p.Asp482Tyr) c.1375G>T (p.Asp459Tyr) | |
2 | g.202552747A= | CA1321556456 | BMPR2 | c.1445A= (p.Asp482=) c.1376A= (p.Asp459=) | |
2 | g.202552747A>C | CA350344469 | BMPR2 | c.1445A>C (p.Asp482Ala) c.1376A>C (p.Asp459Ala) | |
2 | g.202552747A>G | CA350344470 | BMPR2 | c.1445A>G (p.Asp482Gly) c.1376A>G (p.Asp459Gly) | dbSNP gnomAD v4 |
2 | g.202552747A>T | CA350344471 | BMPR2 | c.1445A>T (p.Asp482Val) c.1376A>T (p.Asp459Val) | |
2 | g.202552748C>A | CA350344472 | BMPR2 | c.1446C>A (p.Asp482Glu) c.1377C>A (p.Asp459Glu) | |
2 | g.202552748C>G | CA350344473 | BMPR2 | c.1446C>G (p.Asp482Glu) c.1377C>G (p.Asp459Glu) | |
2 | g.202552748C>T | CA430859652 | BMPR2 | c.1446C>T (p.Asp482=) c.1377C>T (p.Asp459=) | |
2 | g.202552749T>A | CA350344474 | BMPR2 | c.1447T>A (p.Cys483Ser) c.1378T>A (p.Cys460Ser) | |
2 | g.202552749T>C | CA350344475 | BMPR2 | c.1447T>C (p.Cys483Arg) c.1378T>C (p.Cys460Arg) | ClinVar dbSNP |
2 | g.202552749T>G | CA350344476 | BMPR2 | c.1447T>G (p.Cys483Gly) c.1378T>G (p.Cys460Gly) | |
2 | g.202552749T= | CA1321556460 | BMPR2 | c.1447T= (p.Cys483=) c.1378T= (p.Cys460=) | |
2 | g.202552750_202552751del | CA2586971009 | BMPR2 | c.1448_1449del (p.Cys483LeufsTer15) c.1379_1380del (p.Cys460LeufsTer15) | |
2 | g.202552750G>A | CA350344477 | BMPR2 | c.1448G>A (p.Cys483Tyr) c.1379G>A (p.Cys460Tyr) | |
2 | g.202552750G>C | CA350344479 | BMPR2 | c.1448G>C (p.Cys483Ser) c.1379G>C (p.Cys460Ser) | dbSNP |
2 | g.202552750G= | CA1321556467 | BMPR2 | c.1448G= (p.Cys483=) c.1379G= (p.Cys460=) | |
2 | g.202552750G>T | CA350344478 | BMPR2 | c.1448G>T (p.Cys483Phe) c.1379G>T (p.Cys460Phe) | |
2 | g.202552751T>A | CA350344480 | BMPR2 | c.1449T>A (p.Cys483Ter) c.1380T>A (p.Cys460Ter) | |
2 | g.202552751T>C | CA430859663 | BMPR2 | c.1449T>C (p.Cys483=) c.1380T>C (p.Cys460=) | gnomAD v4 |
2 | g.202552751T>G | CA350344481 | BMPR2 | c.1449T>G (p.Cys483Trp) c.1380T>G (p.Cys460Trp) | |
2 | g.202552752T>A | CA350344482 | BMPR2 | c.1450T>A (p.Trp484Arg) c.1381T>A (p.Trp461Arg) | |
2 | g.202552752T>C | CA350344483 | BMPR2 | c.1450T>C (p.Trp484Arg) c.1381T>C (p.Trp461Arg) | |
2 | g.202552752T>G | CA350344484 | BMPR2 | c.1450T>G (p.Trp484Gly) c.1381T>G (p.Trp461Gly) | |
2 | g.202552753G>A | CA350344485 | BMPR2 | c.1451G>A (p.Trp484Ter) c.1382G>A (p.Trp461Ter) | ClinVar dbSNP |
2 | g.202552753G>C | CA350344486 | BMPR2 | c.1451G>C (p.Trp484Ser) c.1382G>C (p.Trp461Ser) | |
2 | g.202552753G= | CA1321556471 | BMPR2 | c.1451G= (p.Trp484=) c.1382G= (p.Trp461=) | |
2 | g.202552753G>T | CA350344487 | BMPR2 | c.1451G>T (p.Trp484Leu) c.1382G>T (p.Trp461Leu) | |
2 | g.202552754G>A | CA350344488 | BMPR2 | c.1452G>A (p.Trp484Ter) c.1383G>A (p.Trp461Ter) | |
2 | g.202552754G>C | CA350344489 | BMPR2 | c.1452G>C (p.Trp484Cys) c.1383G>C (p.Trp461Cys) | |
2 | g.202552754G>T | CA350344490 | BMPR2 | c.1452G>T (p.Trp484Cys) c.1383G>T (p.Trp461Cys) | |
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=) | |
2 | g.202552769G>C | CA350344555 | BMPR2 | c.1467G>C (p.Glu489Asp) c.1398G>C (p.Glu466Asp) | |
2 | g.202552769G>T | CA350344557 | BMPR2 | c.1467G>T (p.Glu489Asp) c.1398G>T (p.Glu466Asp) | COSMIC |
2 | g.202552770G>A | CA350344559 | BMPR2 | c.1468G>A (p.Ala490Thr) c.1399G>A (p.Ala467Thr) | |
2 | g.202552770G>C | CA350344561 | BMPR2 | c.1468G>C (p.Ala490Pro) c.1399G>C (p.Ala467Pro) | |
2 | g.202552770G>T | CA350344562 | BMPR2 | c.1468G>T (p.Ala490Ser) c.1399G>T (p.Ala467Ser) | |
2 | g.202552770_202552771dup | CA2586971010 | BMPR2 | c.1468_1469dup (p.Arg491LeufsTer16) c.1399_1400dup (p.Arg468LeufsTer16) | |
2 | g.202552771C>A | CA350344565 | BMPR2 | c.1469C>A (p.Ala490Asp) c.1400C>A (p.Ala467Asp) | |
2 | g.202552771C= | CA1321556562 | BMPR2 | c.1469C= (p.Ala490=) c.1400C= (p.Ala467=) | |
2 | g.202552771C>G | CA350344567 | BMPR2 | c.1469C>G (p.Ala490Gly) c.1400C>G (p.Ala467Gly) | |
2 | g.202552771C>T | CA10587995 | BMPR2 | c.1469C>T (p.Ala490Val) c.1400C>T (p.Ala467Val) | ClinVar dbSNP |
2 | g.202552772T>A | CA430859751 | BMPR2 | c.1470T>A (p.Ala490=) c.1401T>A (p.Ala467=) | |
2 | g.202552772T>C | CA430859756 | BMPR2 | c.1470T>C (p.Ala490=) c.1401T>C (p.Ala467=) | |
2 | g.202552772T>G | CA430859758 | BMPR2 | c.1470T>G (p.Ala490=) c.1401T>G (p.Ala467=) | |
2 | g.202552773C>A | CA430859760 | BMPR2 | c.1471C>A (p.Arg491=) c.1402C>A (p.Arg468=) | |
2 | g.202552773C= | CA1321556566 | BMPR2 | c.1471C= (p.Arg491=) c.1402C= (p.Arg468=) | |
2 | g.202552773C>G | CA350344570 | BMPR2 | c.1471C>G (p.Arg491Gly) c.1402C>G (p.Arg468Gly) | |
2 | g.202552773C>T | CA278081 | BMPR2 | c.1471C>T (p.Arg491Trp) c.1402C>T (p.Arg468Trp) | ClinVar dbSNP COSMIC |
2 | g.202552774G>A | CA278089 | BMPR2 | c.1472G>A (p.Arg491Gln) c.1403G>A (p.Arg468Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.202552774G>C | CA350344576 | BMPR2 | c.1472G>C (p.Arg491Pro) c.1403G>C (p.Arg468Pro) | |
2 | g.202552774G= | CA1321556571 | BMPR2 | c.1472G= (p.Arg491=) c.1403G= (p.Arg468=) | |
2 | g.202552774G>T | CA350344573 | BMPR2 | c.1472G>T (p.Arg491Leu) c.1403G>T (p.Arg468Leu) | ClinVar dbSNP |
2 | g.202552775G>A | CA430859771 | BMPR2 | c.1473G>A (p.Arg491=) c.1404G>A (p.Arg468=) | |
2 | g.202552775G>C | CA430859773 | BMPR2 | c.1473G>C (p.Arg491=) c.1404G>C (p.Arg468=) | |
2 | g.202552775G>T | CA430859774 | BMPR2 | c.1473G>T (p.Arg491=) c.1404G>T (p.Arg468=) | |
2 | g.202552776C>A | CA350344581 | BMPR2 | c.1474C>A (p.Leu492Ile) c.1405C>A (p.Leu469Ile) | dbSNP |
2 | g.202552776C= | CA1321556575 | BMPR2 | c.1474C= (p.Leu492=) c.1405C= (p.Leu469=) | |
2 | g.202552776C>G | CA350344579 | BMPR2 | c.1474C>G (p.Leu492Val) c.1405C>G (p.Leu469Val) | |
2 | g.202552776C>T | CA350344583 | BMPR2 | c.1474C>T (p.Leu492Phe) c.1405C>T (p.Leu469Phe) | gnomAD v4 |
2 | g.202552777T>A | CA350344585 | BMPR2 | c.1475T>A (p.Leu492His) c.1406T>A (p.Leu469His) | |
2 | g.202552777T>C | CA350344587 | BMPR2 | c.1475T>C (p.Leu492Pro) c.1406T>C (p.Leu469Pro) | |
2 | g.202552777T>G | CA350344588 | BMPR2 | c.1475T>G (p.Leu492Arg) c.1406T>G (p.Leu469Arg) | |
2 | g.202552778T>A | CA430859787 | BMPR2 | c.1476T>A (p.Leu492=) c.1407T>A (p.Leu469=) | |
2 | g.202552778T>C | CA430859788 | BMPR2 | c.1476T>C (p.Leu492=) c.1407T>C (p.Leu469=) | |
2 | g.202552778T>G | CA430859791 | BMPR2 | c.1476T>G (p.Leu492=) c.1407T>G (p.Leu469=) | |
2 | g.202552778T= | CA1321556579 | BMPR2 | c.1476T= (p.Leu492=) c.1407T= (p.Leu469=) | |
2 | g.202552779A>C | CA350344591 | BMPR2 | c.1477A>C (p.Thr493Pro) c.1408A>C (p.Thr470Pro) | |
2 | g.202552779A>G | CA350344592 | BMPR2 | c.1477A>G (p.Thr493Ala) c.1408A>G (p.Thr470Ala) | |
2 | g.202552779A>T | CA350344594 | BMPR2 | c.1477A>T (p.Thr493Ser) c.1408A>T (p.Thr470Ser) | |
2 | g.202552779dup | CA645293982 | BMPR2 | c.1477dup (p.Thr493AsnfsTer6) c.1408dup (p.Thr470AsnfsTer6) | ClinVar dbSNP |
2 | g.202552780C>A | CA350344597 | BMPR2 | c.1478C>A (p.Thr493Asn) c.1409C>A (p.Thr470Asn) | |
2 | g.202552780C= | CA1321556586 | BMPR2 | c.1478C= (p.Thr493=) c.1409C= (p.Thr470=) | |
2 | g.202552780C>G | CA350344598 | BMPR2 | c.1478C>G (p.Thr493Ser) c.1409C>G (p.Thr470Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202552780C>T | CA350344599 | BMPR2 | c.1478C>T (p.Thr493Ile) c.1409C>T (p.Thr470Ile) | |
2 | g.202552781T>A | CA430859802 | BMPR2 | c.1479T>A (p.Thr493=) c.1410T>A (p.Thr470=) | |
2 | g.202552781T>C | CA430859805 | BMPR2 | c.1479T>C (p.Thr493=) c.1410T>C (p.Thr470=) | |
2 | g.202552781T>G | CA430859807 | BMPR2 | c.1479T>G (p.Thr493=) c.1410T>G (p.Thr470=) | |
2 | g.202552782G>A | CA350344602 | BMPR2 | c.1480G>A (p.Ala494Thr) c.1411G>A (p.Ala471Thr) | |
2 | g.202552782G>C | CA350344604 | BMPR2 | c.1480G>C (p.Ala494Pro) c.1411G>C (p.Ala471Pro) | |
2 | g.202552782G>T | CA350344605 | BMPR2 | c.1480G>T (p.Ala494Ser) c.1411G>T (p.Ala471Ser) | |
2 | g.202552783C>A | CA350344610 | BMPR2 | c.1481C>A (p.Ala494Glu) c.1412C>A (p.Ala471Glu) | |
2 | g.202552783C= | CA1321556589 | BMPR2 | c.1481C= (p.Ala494=) c.1412C= (p.Ala471=) | |
2 | g.202552783C>G | CA350344607 | BMPR2 | c.1481C>G (p.Ala494Gly) c.1412C>G (p.Ala471Gly) | |
2 | g.202552783C>T | CA2061380 | BMPR2 | c.1481C>T (p.Ala494Val) c.1412C>T (p.Ala471Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552784A>C | CA430859818 | BMPR2 | c.1482A>C (p.Ala494=) c.1413A>C (p.Ala471=) | |
2 | g.202552784A>G | CA430859820 | BMPR2 | c.1482A>G (p.Ala494=) c.1413A>G (p.Ala471=) | gnomAD v4 |
2 | g.202552784A>T | CA430859822 | BMPR2 | c.1482A>T (p.Ala494=) c.1413A>T (p.Ala471=) | |
2 | g.202552785C>A | CA350344611 | BMPR2 | c.1483C>A (p.Gln495Lys) c.1414C>A (p.Gln472Lys) | |
2 | g.202552785C= | CA1321556592 | BMPR2 | c.1483C= (p.Gln495=) c.1414C= (p.Gln472=) | |
2 | g.202552785C>G | CA350344613 | BMPR2 | c.1483C>G (p.Gln495Glu) c.1414C>G (p.Gln472Glu) | |
2 | g.202552785C>T | CA350344615 | BMPR2 | c.1483C>T (p.Gln495Ter) c.1414C>T (p.Gln472Ter) | ClinVar dbSNP |
2 | g.202552786A= | CA1321556598 | BMPR2 | c.1484A= (p.Gln495=) c.1415A= (p.Gln472=) | |
2 | g.202552786A>C | CA350344617 | BMPR2 | c.1484A>C (p.Gln495Pro) c.1415A>C (p.Gln472Pro) | |
2 | g.202552786A>G | CA350344619 | BMPR2 | c.1484A>G (p.Gln495Arg) c.1415A>G (p.Gln472Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552786A>T | CA350344621 | BMPR2 | c.1484A>T (p.Gln495Leu) c.1415A>T (p.Gln472Leu) | |
2 | g.202552787G>A | CA430859832 | BMPR2 | c.1485G>A (p.Gln495=) c.1416G>A (p.Gln472=) | gnomAD v4 |
2 | g.202552787G>C | CA350344622 | BMPR2 | c.1485G>C (p.Gln495His) c.1416G>C (p.Gln472His) | |
2 | g.202552787G>T | CA350344624 | BMPR2 | c.1485G>T (p.Gln495His) c.1416G>T (p.Gln472His) | |
2 | g.202552788T>A | CA350344626 | BMPR2 | c.1486T>A (p.Cys496Ser) c.1417T>A (p.Cys473Ser) | |
2 | g.202552788T>C | CA350344628 | BMPR2 | c.1486T>C (p.Cys496Arg) c.1417T>C (p.Cys473Arg) | ClinVar dbSNP |
2 | g.202552788T>G | CA350344629 | BMPR2 | c.1486T>G (p.Cys496Gly) c.1417T>G (p.Cys473Gly) | |
2 | g.202552788T= | CA1321556601 | BMPR2 | c.1486T= (p.Cys496=) c.1417T= (p.Cys473=) | |
2 | g.202552789G>A | CA350344634 | BMPR2 | c.1487G>A (p.Cys496Tyr) c.1418G>A (p.Cys473Tyr) | ClinVar dbSNP |
2 | g.202552789G>C | CA350344635 | BMPR2 | c.1487G>C (p.Cys496Ser) c.1418G>C (p.Cys473Ser) | |
2 | g.202552789G= | CA1321556604 | BMPR2 | c.1487G= (p.Cys496=) c.1418G= (p.Cys473=) | |
2 | g.202552789G>T | CA350344632 | BMPR2 | c.1487G>T (p.Cys496Phe) c.1418G>T (p.Cys473Phe) | |
2 | g.202552789_202552807delinsGTGCTGAGGAAAGGATGGC | CA1321556605 | BMPR2 | c.1487_1505delinsGTGCTGAGGAAAGGATGGC (p.Cys496=) c.1418_1436delinsGTGCTGAGGAAAGGATGGC (p.Cys473=) | |
2 | g.202552790T>A | CA350344637 | BMPR2 | c.1488T>A (p.Cys496Ter) c.1419T>A (p.Cys473Ter) | |
2 | g.202552790T>C | CA430859844 | BMPR2 | c.1488T>C (p.Cys496=) c.1419T>C (p.Cys473=) | |
2 | g.202552790T>G | CA350344638 | BMPR2 | c.1488T>G (p.Cys496Trp) c.1419T>G (p.Cys473Trp) | ClinVar dbSNP |
2 | g.202552792_202552809del | CA915941656 | BMPR2 | c.1490_1507del (p.Ala497_Ala502del) c.1421_1438del (p.Ala474_Ala479del) | ClinVar dbSNP |
2 | g.202552791G>A | CA350344640 | BMPR2 | c.1489G>A (p.Ala497Thr) c.1420G>A (p.Ala474Thr) | |
2 | g.202552791G>C | CA350344642 | BMPR2 | c.1489G>C (p.Ala497Pro) c.1420G>C (p.Ala474Pro) | |
2 | g.202552791G>T | CA350344643 | BMPR2 | c.1489G>T (p.Ala497Ser) c.1420G>T (p.Ala474Ser) | |
2 | g.202552792C>A | CA350344646 | BMPR2 | c.1490C>A (p.Ala497Asp) c.1421C>A (p.Ala474Asp) | |
2 | g.202552792C>G | CA350344647 | BMPR2 | c.1490C>G (p.Ala497Gly) c.1421C>G (p.Ala474Gly) | |
2 | g.202552792C>T | CA350344648 | BMPR2 | c.1490C>T (p.Ala497Val) c.1421C>T (p.Ala474Val) | |
2 | g.202552793T>A | CA430859857 | BMPR2 | c.1491T>A (p.Ala497=) c.1422T>A (p.Ala474=) | |
2 | g.202552793T>C | CA430859860 | BMPR2 | c.1491T>C (p.Ala497=) c.1422T>C (p.Ala474=) | |
2 | g.202552793T>G | CA430859858 | BMPR2 | c.1491T>G (p.Ala497=) c.1422T>G (p.Ala474=) | |
2 | g.202552794G>A | CA350344650 | BMPR2 | c.1492G>A (p.Glu498Lys) c.1423G>A (p.Glu475Lys) | ClinVar dbSNP |
2 | g.202552794G>C | CA2061381 | BMPR2 | c.1492G>C (p.Glu498Gln) c.1423G>C (p.Glu475Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202552794G= | CA1321556610 | BMPR2 | c.1492G= (p.Glu498=) c.1423G= (p.Glu475=) | |
2 | g.202552794G>T | CA350344651 | BMPR2 | c.1492G>T (p.Glu498Ter) c.1423G>T (p.Glu475Ter) | |
2 | g.202552795A>C | CA350344653 | BMPR2 | c.1493A>C (p.Glu498Ala) c.1424A>C (p.Glu475Ala) | |
2 | g.202552795A>G | CA350344655 | BMPR2 | c.1493A>G (p.Glu498Gly) c.1424A>G (p.Glu475Gly) | |
2 | g.202552795A>T | CA350344657 | BMPR2 | c.1493A>T (p.Glu498Val) c.1424A>T (p.Glu475Val) | |
2 | g.202552796G>A | CA430859872 | BMPR2 | c.1494G>A (p.Glu498=) c.1425G>A (p.Glu475=) | |
2 | g.202552796G>C | CA350344659 | BMPR2 | c.1494G>C (p.Glu498Asp) c.1425G>C (p.Glu475Asp) | |
2 | g.202552796G>T | CA350344661 | BMPR2 | c.1494G>T (p.Glu498Asp) c.1425G>T (p.Glu475Asp) | |
2 | g.202552797G>A | CA350344663 | BMPR2 | c.1495G>A (p.Glu499Lys) c.1426G>A (p.Glu476Lys) | |
2 | g.202552797G>C | CA350344665 | BMPR2 | c.1495G>C (p.Glu499Gln) c.1426G>C (p.Glu476Gln) | |
2 | g.202552797G>T | CA350344667 | BMPR2 | c.1495G>T (p.Glu499Ter) c.1426G>T (p.Glu476Ter) | |
2 | g.202552798A>C | CA350344669 | BMPR2 | c.1496A>C (p.Glu499Ala) c.1427A>C (p.Glu476Ala) | |
2 | g.202552798A>G | CA350344671 | BMPR2 | c.1496A>G (p.Glu499Gly) c.1427A>G (p.Glu476Gly) | |
2 | g.202552798A>T | CA350344673 | BMPR2 | c.1496A>T (p.Glu499Val) c.1427A>T (p.Glu476Val) | |
2 | g.202552799A>C | CA350344675 | BMPR2 | c.1497A>C (p.Glu499Asp) c.1428A>C (p.Glu476Asp) | |
2 | g.202552799A>G | CA430859888 | BMPR2 | c.1497A>G (p.Glu499=) c.1428A>G (p.Glu476=) | ClinVar dbSNP gnomAD v4 |
2 | g.202552799A>T | CA350344677 | BMPR2 | c.1497A>T (p.Glu499Asp) c.1428A>T (p.Glu476Asp) | |
2 | g.202552800A>C | CA430859892 | BMPR2 | c.1498A>C (p.Arg500=) c.1429A>C (p.Arg477=) | |
2 | g.202552800A>G | CA350344679 | BMPR2 | c.1498A>G (p.Arg500Gly) c.1429A>G (p.Arg477Gly) | |
2 | g.202552800A>T | CA350344680 | BMPR2 | c.1498A>T (p.Arg500Trp) c.1429A>T (p.Arg477Trp) | |
2 | g.202552801G>A | CA350344682 | BMPR2 | c.1499G>A (p.Arg500Lys) c.1430G>A (p.Arg477Lys) | |
2 | g.202552801G>C | CA350344683 | BMPR2 | c.1499G>C (p.Arg500Thr) c.1430G>C (p.Arg477Thr) | |
2 | g.202552801G>T | CA350344685 | BMPR2 | c.1499G>T (p.Arg500Met) c.1430G>T (p.Arg477Met) | |
2 | g.202552802G>A | CA430859909 | BMPR2 | c.1500G>A (p.Arg500=) c.1431G>A (p.Arg477=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552802G>C | CA350344687 | BMPR2 | c.1500G>C (p.Arg500Ser) c.1431G>C (p.Arg477Ser) | |
2 | g.202552802G= | CA1321556615 | BMPR2 | c.1500G= (p.Arg500=) c.1431G= (p.Arg477=) | |
2 | g.202552802G>T | CA350344688 | BMPR2 | c.1500G>T (p.Arg500Ser) c.1431G>T (p.Arg477Ser) | |
2 | g.202552803A>C | CA350344691 | BMPR2 | c.1501A>C (p.Met501Leu) c.1432A>C (p.Met478Leu) | |
2 | g.202552803A>G | CA350344692 | BMPR2 | c.1501A>G (p.Met501Val) c.1432A>G (p.Met478Val) | |
2 | g.202552803A>T | CA350344694 | BMPR2 | c.1501A>T (p.Met501Leu) c.1432A>T (p.Met478Leu) | |
2 | g.202552804T>A | CA350344697 | BMPR2 | c.1502T>A (p.Met501Lys) c.1433T>A (p.Met478Lys) | |
2 | g.202552804T>C | CA350344699 | BMPR2 | c.1502T>C (p.Met501Thr) c.1433T>C (p.Met478Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202552804T>G | CA350344700 | BMPR2 | c.1502T>G (p.Met501Arg) c.1433T>G (p.Met478Arg) | |
2 | g.202552804T= | CA1321556624 | BMPR2 | c.1502T= (p.Met501=) c.1433T= (p.Met478=) | |
2 | g.202552805G>A | CA350344706 | BMPR2 | c.1503G>A (p.Met501Ile) c.1434G>A (p.Met478Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552805G>C | CA350344704 | BMPR2 | c.1503G>C (p.Met501Ile) c.1434G>C (p.Met478Ile) | |
2 | g.202552805G= | CA1321556626 | BMPR2 | c.1503G= (p.Met501=) c.1434G= (p.Met478=) | |
2 | g.202552805G>T | CA350344703 | BMPR2 | c.1503G>T (p.Met501Ile) c.1434G>T (p.Met478Ile) | |
2 | g.202552806G>A | CA350344708 | BMPR2 | c.1504G>A (p.Ala502Thr) c.1435G>A (p.Ala479Thr) | |
2 | g.202552806G>C | CA350344710 | BMPR2 | c.1504G>C (p.Ala502Pro) c.1435G>C (p.Ala479Pro) | |
2 | g.202552806G>T | CA350344711 | BMPR2 | c.1504G>T (p.Ala502Ser) c.1435G>T (p.Ala479Ser) | |
2 | g.202552807C>A | CA350344715 | BMPR2 | c.1505C>A (p.Ala502Asp) c.1436C>A (p.Ala479Asp) | |
2 | g.202552807C>G | CA350344716 | BMPR2 | c.1505C>G (p.Ala502Gly) c.1436C>G (p.Ala479Gly) | |
2 | g.202552807C>T | CA350344719 | BMPR2 | c.1505C>T (p.Ala502Val) c.1436C>T (p.Ala479Val) | |
2 | g.202552807_202552808delinsCT | CA1321556628 | BMPR2 | c.1505_1506delinsCT (p.Ala502=) c.1436_1437delinsCT (p.Ala479=) | |
2 | g.202552808del | CA645509116 | BMPR2 | c.1506del (p.Glu503AsnfsTer3) c.1437del (p.Glu480AsnfsTer3) | ClinVar dbSNP |
2 | g.202552808T>A | CA430859938 | BMPR2 | c.1506T>A (p.Ala502=) c.1437T>A (p.Ala479=) | |
2 | g.202552808T>C | CA430859939 | BMPR2 | c.1506T>C (p.Ala502=) c.1437T>C (p.Ala479=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552808T>G | CA430859941 | BMPR2 | c.1506T>G (p.Ala502=) c.1437T>G (p.Ala479=) | |
2 | g.202552808T= | CA1321556633 | BMPR2 | c.1506T= (p.Ala502=) c.1437T= (p.Ala479=) | |
2 | g.202552809G>A | CA350344722 | BMPR2 | c.1507G>A (p.Glu503Lys) c.1438G>A (p.Glu480Lys) | |
2 | g.202552809G>C | CA350344725 | BMPR2 | c.1507G>C (p.Glu503Gln) c.1438G>C (p.Glu480Gln) | |
2 | g.202552809G>T | CA350344724 | BMPR2 | c.1507G>T (p.Glu503Ter) c.1438G>T (p.Glu480Ter) | |
2 | g.202552810A>C | CA350344727 | BMPR2 | c.1508A>C (p.Glu503Ala) c.1439A>C (p.Glu480Ala) | |
2 | g.202552810A>G | CA350344729 | BMPR2 | c.1508A>G (p.Glu503Gly) c.1439A>G (p.Glu480Gly) | |
2 | g.202552810A>T | CA350344731 | BMPR2 | c.1508A>T (p.Glu503Val) c.1439A>T (p.Glu480Val) | |
2 | g.202552811A= | CA1321556637 | BMPR2 | c.1509A= (p.Glu503=) c.1440A= (p.Glu480=) | |
2 | g.202552811A>C | CA16610570 | BMPR2 | c.1509A>C (p.Glu503Asp) c.1440A>C (p.Glu480Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202552811A>G | CA430859958 | BMPR2 | c.1509A>G (p.Glu503=) c.1440A>G (p.Glu480=) | |
2 | g.202552811A>T | CA350344734 | BMPR2 | c.1509A>T (p.Glu503Asp) c.1440A>T (p.Glu480Asp) | gnomAD v4 |
2 | g.202552811_202552812del | CA2577215739 | BMPR2 | c.1509_1510del (p.Glu503AspfsTer25) c.1440_1441del (p.Glu480AspfsTer25) | |
2 | g.202552812C>A | CA350344736 | BMPR2 | c.1510C>A (p.Leu504Ile) c.1441C>A (p.Leu481Ile) | |
2 | g.202552812C>G | CA350344738 | BMPR2 | c.1510C>G (p.Leu504Val) c.1441C>G (p.Leu481Val) | |
2 | g.202552812C>T | CA350344739 | BMPR2 | c.1510C>T (p.Leu504Phe) c.1441C>T (p.Leu481Phe) | |
2 | g.202552813T>A | CA350344742 | BMPR2 | c.1511T>A (p.Leu504His) c.1442T>A (p.Leu481His) | |
2 | g.202552813T>C | CA350344743 | BMPR2 | c.1511T>C (p.Leu504Pro) c.1442T>C (p.Leu481Pro) | gnomAD v4 |
2 | g.202552813T>G | CA350344744 | BMPR2 | c.1511T>G (p.Leu504Arg) c.1442T>G (p.Leu481Arg) | |
2 | g.202552814del | CA2586971012 | BMPR2 | c.1512del (p.Met505Ter) c.1443del (p.Met482Ter) | |
2 | g.202552814T>A | CA430859975 | BMPR2 | c.1512T>A (p.Leu504=) c.1443T>A (p.Leu481=) | |
2 | g.202552814T>C | CA430859974 | BMPR2 | c.1512T>C (p.Leu504=) c.1443T>C (p.Leu481=) | |
2 | g.202552814T>G | CA2061382 | BMPR2 | c.1512T>G (p.Leu504=) c.1443T>G (p.Leu481=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552814T= | CA1321556642 | BMPR2 | c.1512T= (p.Leu504=) c.1443T= (p.Leu481=) | |
2 | g.202552815A= | CA1321556649 | BMPR2 | c.1513A= (p.Met505=) c.1444A= (p.Met482=) | |
2 | g.202552815A>C | CA350344748 | BMPR2 | c.1513A>C (p.Met505Leu) c.1444A>C (p.Met482Leu) | |
2 | g.202552815A>G | CA350344752 | BMPR2 | c.1513A>G (p.Met505Val) c.1444A>G (p.Met482Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202552815A>T | CA350344750 | BMPR2 | c.1513A>T (p.Met505Leu) c.1444A>T (p.Met482Leu) | |
2 | g.202552815dup | CA891843104 | BMPR2 | c.1513dup (p.Met505AsnfsTer24) c.1444dup (p.Met482AsnfsTer24) | ClinVar dbSNP gnomAD v4 |
2 | g.202552820_202552822del | CA2753906651 | BMPR2 | c.1518_1520del (p.Met506del) c.1449_1451del (p.Met483del) | |
2 | g.202552816T>A | CA350344754 | BMPR2 | c.1514T>A (p.Met505Lys) c.1445T>A (p.Met482Lys) | |
2 | g.202552816T>C | CA2061383 | BMPR2 | c.1514T>C (p.Met505Thr) c.1445T>C (p.Met482Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552816T>G | CA350344757 | BMPR2 | c.1514T>G (p.Met505Arg) c.1445T>G (p.Met482Arg) | |
2 | g.202552816T= | CA1321556651 | BMPR2 | c.1514T= (p.Met505=) c.1445T= (p.Met482=) | |
2 | g.202552817G>A | CA350344759 | BMPR2 | c.1515G>A (p.Met505Ile) c.1446G>A (p.Met482Ile) | |
2 | g.202552817G>C | CA350344761 | BMPR2 | c.1515G>C (p.Met505Ile) c.1446G>C (p.Met482Ile) | |
2 | g.202552817G>T | CA350344763 | BMPR2 | c.1515G>T (p.Met505Ile) c.1446G>T (p.Met482Ile) | |
2 | g.202552818A= | CA1321556657 | BMPR2 | c.1516A= (p.Met506=) c.1447A= (p.Met483=) | |
2 | g.202552818A>C | CA350344765 | BMPR2 | c.1516A>C (p.Met506Leu) c.1447A>C (p.Met483Leu) | |
2 | g.202552818A>G | CA2061384 | BMPR2 | c.1516A>G (p.Met506Val) c.1447A>G (p.Met483Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552818A>T | CA350344768 | BMPR2 | c.1516A>T (p.Met506Leu) c.1447A>T (p.Met483Leu) | |
2 | g.202552819T>A | CA350344770 | BMPR2 | c.1517T>A (p.Met506Lys) c.1448T>A (p.Met483Lys) | |
2 | g.202552819T>C | CA350344772 | BMPR2 | c.1517T>C (p.Met506Thr) c.1448T>C (p.Met483Thr) | |
2 | g.202552819T>G | CA350344774 | BMPR2 | c.1517T>G (p.Met506Arg) c.1448T>G (p.Met483Arg) | |
2 | g.202552819_202552820delinsTG | CA1321556662 | BMPR2 | c.1517_1518delinsTG (p.Met506=) c.1448_1449delinsTG (p.Met483=) | |
2 | g.202552820del | CA1321556664 | BMPR2 | c.1518del (p.Met506IlefsTer9) c.1449del (p.Met483IlefsTer9) | dbSNP |
2 | g.202552820G>A | CA350344780 | BMPR2 | c.1518G>A (p.Met506Ile) c.1449G>A (p.Met483Ile) | |
2 | g.202552820G>C | CA350344778 | BMPR2 | c.1518G>C (p.Met506Ile) c.1449G>C (p.Met483Ile) | |
2 | g.202552820G>T | CA350344776 | BMPR2 | c.1518G>T (p.Met506Ile) c.1449G>T (p.Met483Ile) | |
2 | g.202552821A>C | CA350344782 | BMPR2 | c.1519A>C (p.Ile507Leu) c.1450A>C (p.Ile484Leu) | |
2 | g.202552821A>G | CA350344783 | BMPR2 | c.1519A>G (p.Ile507Val) c.1450A>G (p.Ile484Val) | |
2 | g.202552821A>T | CA350344785 | BMPR2 | c.1519A>T (p.Ile507Phe) c.1450A>T (p.Ile484Phe) | |
2 | g.202552821_202552822insAT | CA2573051836 | BMPR2 | c.1519_1520insAT (p.Ile507AsnfsTer9) c.1450_1451insAT (p.Ile484AsnfsTer9) | ClinVar dbSNP |
2 | g.202552822T>A | CA350344787 | BMPR2 | c.1520T>A (p.Ile507Asn) c.1451T>A (p.Ile484Asn) | |
2 | g.202552822T>C | CA350344788 | BMPR2 | c.1520T>C (p.Ile507Thr) c.1451T>C (p.Ile484Thr) | |
2 | g.202552822T>G | CA350344790 | BMPR2 | c.1520T>G (p.Ile507Ser) c.1451T>G (p.Ile484Ser) | |
2 | g.202552824del | CA2662706606 | BMPR2 | c.1522del (p.Trp508GlyfsTer7) c.1453del (p.Trp485GlyfsTer7) | gnomAD v4 |
2 | g.202552823T>A | CA430860019 | BMPR2 | c.1521T>A (p.Ile507=) c.1452T>A (p.Ile484=) | gnomAD v4 |
2 | g.202552823T>C | CA430860021 | BMPR2 | c.1521T>C (p.Ile507=) c.1452T>C (p.Ile484=) | dbSNP |
2 | g.202552823T>G | CA350344793 | BMPR2 | c.1521T>G (p.Ile507Met) c.1452T>G (p.Ile484Met) | |
2 | g.202552823T= | CA1321556666 | BMPR2 | c.1521T= (p.Ile507=) c.1452T= (p.Ile484=) | |
2 | g.202552824T>A | CA350344795 | BMPR2 | c.1522T>A (p.Trp508Arg) c.1453T>A (p.Trp485Arg) | |
2 | g.202552824T>C | CA350344797 | BMPR2 | c.1522T>C (p.Trp508Arg) c.1453T>C (p.Trp485Arg) | |
2 | g.202552824T>G | CA350344799 | BMPR2 | c.1522T>G (p.Trp508Gly) c.1453T>G (p.Trp485Gly) | |
2 | g.202552840_202552841insCCTGGGAAAGAAACAAATC | CA2662706607 | BMPR2 | c.1538_1539insCCTGGGAAAGAAACAAATC (p.Val514LeufsTer21) c.1469_1470insCCTGGGAAAGAAACAAATC (p.Val491LeufsTer21) | gnomAD v4 |
2 | g.202552825G>A | CA2061385 | BMPR2 | c.1523G>A (p.Trp508Ter) c.1454G>A (p.Trp485Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202552825G>C | CA350344801 | BMPR2 | c.1523G>C (p.Trp508Ser) c.1454G>C (p.Trp485Ser) | |
2 | g.202552825G= | CA1321556670 | BMPR2 | c.1523G= (p.Trp508=) c.1454G= (p.Trp485=) | |
2 | g.202552825G>T | CA350344803 | BMPR2 | c.1523G>T (p.Trp508Leu) c.1454G>T (p.Trp485Leu) | |
2 | g.202552826G>A | CA350344807 | BMPR2 | c.1524G>A (p.Trp508Ter) c.1455G>A (p.Trp485Ter) | ClinVar dbSNP |
2 | g.202552826G>C | CA350344808 | BMPR2 | c.1524G>C (p.Trp508Cys) c.1455G>C (p.Trp485Cys) | |
2 | g.202552826G>T | CA350344805 | BMPR2 | c.1524G>T (p.Trp508Cys) c.1455G>T (p.Trp485Cys) |