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.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) | |
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=) | |
2 | g.202552841T>C | CA430860100 | BMPR2 | c.1539T>C (p.Ser513=) c.1470T>C (p.Ser490=) | |
2 | g.202552841T>G | CA430860101 | BMPR2 | c.1539T>G (p.Ser513=) c.1470T>G (p.Ser490=) | |
2 | g.202552843_202552844del | CA2662706608 | BMPR2 | c.1541_1542del (p.Val514GlufsTer14) c.1472_1473del (p.Val491GlufsTer14) | gnomAD v4 |
2 | g.202552842G>A | CA350344887 | BMPR2 | c.1540G>A (p.Val514Met) c.1471G>A (p.Val491Met) | gnomAD v4 |
2 | g.202552842G>C | CA2061387 | BMPR2 | c.1540G>C (p.Val514Leu) c.1471G>C (p.Val491Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552842G= | CA1321556705 | BMPR2 | c.1540G= (p.Val514=) c.1471G= (p.Val491=) | |
2 | g.202552842G>T | CA350344890 | BMPR2 | c.1540G>T (p.Val514Leu) c.1471G>T (p.Val491Leu) | |
2 | g.202552843T>A | CA350344892 | BMPR2 | c.1541T>A (p.Val514Glu) c.1472T>A (p.Val491Glu) | |
2 | g.202552843T>C | CA350344893 | BMPR2 | c.1541T>C (p.Val514Ala) c.1472T>C (p.Val491Ala) | |
2 | g.202552843T>G | CA350344895 | BMPR2 | c.1541T>G (p.Val514Gly) c.1472T>G (p.Val491Gly) | |
2 | g.202552844G>A | CA2061388 | BMPR2 | c.1542G>A (p.Val514=) c.1473G>A (p.Val491=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202552844G>C | CA430860119 | BMPR2 | c.1542G>C (p.Val514=) c.1473G>C (p.Val491=) | |
2 | g.202552844G= | CA1321556710 | BMPR2 | c.1542G= (p.Val514=) c.1473G= (p.Val491=) | |
2 | g.202552844G>T | CA430860121 | BMPR2 | c.1542G>T (p.Val514=) c.1473G>T (p.Val491=) | |
2 | g.202552845A>C | CA350344899 | BMPR2 | c.1543A>C (p.Ser515Arg) c.1474A>C (p.Ser492Arg) | |
2 | g.202552845A>G | CA350344900 | BMPR2 | c.1543A>G (p.Ser515Gly) c.1474A>G (p.Ser492Gly) | |
2 | g.202552845A>T | CA350344902 | BMPR2 | c.1543A>T (p.Ser515Cys) c.1474A>T (p.Ser492Cys) | |
2 | g.202552846G>A | CA350344909 | BMPR2 | c.1544G>A (p.Ser515Asn) c.1475G>A (p.Ser492Asn) | |
2 | g.202552846G>C | CA350344904 | BMPR2 | c.1544G>C (p.Ser515Thr) c.1475G>C (p.Ser492Thr) | |
2 | g.202552846G>T | CA350344906 | BMPR2 | c.1544G>T (p.Ser515Ile) c.1475G>T (p.Ser492Ile) | |
2 | g.202552847C>A | CA350344912 | BMPR2 | c.1545C>A (p.Ser515Arg) c.1476C>A (p.Ser492Arg) | |
2 | g.202552847C= | CA1321556713 | BMPR2 | c.1545C= (p.Ser515=) c.1476C= (p.Ser492=) | |
2 | g.202552847C>G | CA350344913 | BMPR2 | c.1545C>G (p.Ser515Arg) c.1476C>G (p.Ser492Arg) | |
2 | g.202552847C>T | CA2061389 | BMPR2 | c.1545C>T (p.Ser515=) c.1476C>T (p.Ser492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552848C>A | CA350344916 | BMPR2 | c.1546C>A (p.Pro516Thr) c.1477C>A (p.Pro493Thr) | gnomAD v4 |
2 | g.202552848C>G | CA350344918 | BMPR2 | c.1546C>G (p.Pro516Ala) c.1477C>G (p.Pro493Ala) | gnomAD v4 |
2 | g.202552848C>T | CA350344920 | BMPR2 | c.1546C>T (p.Pro516Ser) c.1477C>T (p.Pro493Ser) | gnomAD v4 |
2 | g.202552849C>A | CA350344922 | BMPR2 | c.1547C>A (p.Pro516Gln) c.1478C>A (p.Pro493Gln) | |
2 | g.202552849C>G | CA350344924 | BMPR2 | c.1547C>G (p.Pro516Arg) c.1478C>G (p.Pro493Arg) | |
2 | g.202552849C>T | CA350344926 | BMPR2 | c.1547C>T (p.Pro516Leu) c.1478C>T (p.Pro493Leu) | |
2 | g.202552850A>C | CA430860139 | BMPR2 | c.1548A>C (p.Pro516=) c.1479A>C (p.Pro493=) | |
2 | g.202552850A>G | CA430860140 | BMPR2 | c.1548A>G (p.Pro516=) c.1479A>G (p.Pro493=) | |
2 | g.202552850A>T | CA430860144 | BMPR2 | c.1548A>T (p.Pro516=) c.1479A>T (p.Pro493=) | |
2 | g.202552851del | CA2580065454 | BMPR2 | c.1549del (p.Thr517GlnfsTer?) c.1480del (p.Thr494GlnfsTer?) | ClinVar |
2 | g.202552850_202552852delinsAAC | CA1321556718 | BMPR2 | c.1548_1550delinsAAC (p.Pro516=) c.1479_1481delinsAAC (p.Pro493=) | |
2 | g.202552851A= | CA1321556721 | BMPR2 | c.1549A= (p.Thr517=) c.1480A= (p.Thr494=) | |
2 | g.202552851A>C | CA350344928 | BMPR2 | c.1549A>C (p.Thr517Pro) c.1480A>C (p.Thr494Pro) | |
2 | g.202552851A>G | CA350344930 | BMPR2 | c.1549A>G (p.Thr517Ala) c.1480A>G (p.Thr494Ala) | dbSNP gnomAD v4 |
2 | g.202552851A>T | CA350344932 | BMPR2 | c.1549A>T (p.Thr517Ser) c.1480A>T (p.Thr494Ser) | |
2 | g.202552852_202552853del | CA1321556723 | BMPR2 | c.1550_1551del (p.Thr517SerfsTer11) c.1481_1482del (p.Thr494SerfsTer11) | dbSNP |
2 | g.202552852C>A | CA350344934 | BMPR2 | c.1550C>A (p.Thr517Lys) c.1481C>A (p.Thr494Lys) | |
2 | g.202552852C= | CA1321556726 | BMPR2 | c.1550C= (p.Thr517=) c.1481C= (p.Thr494=) | |
2 | g.202552852C>G | CA350344938 | BMPR2 | c.1550C>G (p.Thr517Arg) c.1481C>G (p.Thr494Arg) | |
2 | g.202552852C>T | CA350344936 | BMPR2 | c.1550C>T (p.Thr517Ile) c.1481C>T (p.Thr494Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202552853A>C | CA430860157 | BMPR2 | c.1551A>C (p.Thr517=) c.1482A>C (p.Thr494=) | |
2 | g.202552853A>G | CA430860159 | BMPR2 | c.1551A>G (p.Thr517=) c.1482A>G (p.Thr494=) | gnomAD v4 |
2 | g.202552853A>T | CA430860161 | BMPR2 | c.1551A>T (p.Thr517=) c.1482A>T (p.Thr494=) | |
2 | g.202552854G>A | CA350344940 | BMPR2 | c.1552G>A (p.Val518Ile) c.1483G>A (p.Val495Ile) | |
2 | g.202552854G>C | CA350344942 | BMPR2 | c.1552G>C (p.Val518Leu) c.1483G>C (p.Val495Leu) | |
2 | g.202552854G>T | CA350344944 | BMPR2 | c.1552G>T (p.Val518Phe) c.1483G>T (p.Val495Phe) | |
2 | g.202552855T>A | CA350344946 | BMPR2 | c.1553T>A (p.Val518Asp) c.1484T>A (p.Val495Asp) | gnomAD v4 |
2 | g.202552855T>C | CA350344948 | BMPR2 | c.1553T>C (p.Val518Ala) c.1484T>C (p.Val495Ala) | |
2 | g.202552855T>G | CA350344950 | BMPR2 | c.1553T>G (p.Val518Gly) c.1484T>G (p.Val495Gly) | |
2 | g.202552856C>A | CA430860173 | BMPR2 | c.1554C>A (p.Val518=) c.1485C>A (p.Val495=) | gnomAD v4 |
2 | g.202552856C>G | CA430860171 | BMPR2 | c.1554C>G (p.Val518=) c.1485C>G (p.Val495=) | |
2 | g.202552856C>T | CA430860170 | BMPR2 | c.1554C>T (p.Val518=) c.1485C>T (p.Val495=) | |
2 | g.202552857A>C | CA350344956 | BMPR2 | c.1555A>C (p.Asn519His) c.1486A>C (p.Asn496His) | |
2 | g.202552857A>G | CA350344952 | BMPR2 | c.1555A>G (p.Asn519Asp) c.1486A>G (p.Asn496Asp) | |
2 | g.202552857A>T | CA350344954 | BMPR2 | c.1555A>T (p.Asn519Tyr) c.1486A>T (p.Asn496Tyr) | |
2 | g.202552858A= | CA1321556729 | BMPR2 | c.1556A= (p.Asn519=) c.1487A= (p.Asn496=) | |
2 | g.202552858A>C | CA350344959 | BMPR2 | c.1556A>C (p.Asn519Thr) c.1487A>C (p.Asn496Thr) | |
2 | g.202552858A>G | CA350344960 | BMPR2 | c.1556A>G (p.Asn519Ser) c.1487A>G (p.Asn496Ser) | gnomAD v4 |
2 | g.202552858A>T | CA350344962 | BMPR2 | c.1556A>T (p.Asn519Ile) c.1487A>T (p.Asn496Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552859T>A | CA350344965 | BMPR2 | c.1557T>A (p.Asn519Lys) c.1488T>A (p.Asn496Lys) | ClinVar dbSNP |
2 | g.202552859T>C | CA430860181 | BMPR2 | c.1557T>C (p.Asn519=) c.1488T>C (p.Asn496=) | |
2 | g.202552859T>G | CA350344966 | BMPR2 | c.1557T>G (p.Asn519Lys) c.1488T>G (p.Asn496Lys) | |
2 | g.202552859T= | CA1321556734 | BMPR2 | c.1557T= (p.Asn519=) c.1488T= (p.Asn496=) | |
2 | g.202552860C>A | CA350344972 | BMPR2 | c.1558C>A (p.Pro520Thr) c.1489C>A (p.Pro497Thr) | |
2 | g.202552860C= | CA1321556738 | BMPR2 | c.1558C= (p.Pro520=) c.1489C= (p.Pro497=) | |
2 | g.202552860C>G | CA350344968 | BMPR2 | c.1558C>G (p.Pro520Ala) c.1489C>G (p.Pro497Ala) | |
2 | g.202552860C>T | CA350344970 | BMPR2 | c.1558C>T (p.Pro520Ser) c.1489C>T (p.Pro497Ser) | dbSNP |
2 | g.202552861C>A | CA350344974 | BMPR2 | c.1559C>A (p.Pro520Gln) c.1490C>A (p.Pro497Gln) | |
2 | g.202552861C= | CA1321556744 | BMPR2 | c.1559C= (p.Pro520=) c.1490C= (p.Pro497=) | |
2 | g.202552861C>G | CA350344976 | BMPR2 | c.1559C>G (p.Pro520Arg) c.1490C>G (p.Pro497Arg) | |
2 | g.202552861C>T | CA350344978 | BMPR2 | c.1559C>T (p.Pro520Leu) c.1490C>T (p.Pro497Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552862A>C | CA430860200 | BMPR2 | c.1560A>C (p.Pro520=) c.1491A>C (p.Pro497=) | |
2 | g.202552862A>G | CA430860210 | BMPR2 | c.1560A>G (p.Pro520=) c.1491A>G (p.Pro497=) | |
2 | g.202552862A>T | CA430860203 | BMPR2 | c.1560A>T (p.Pro520=) c.1491A>T (p.Pro497=) | |
2 | g.202552863A= | CA1321556750 | BMPR2 | c.1561A= (p.Met521=) c.1492A= (p.Met498=) | |
2 | g.202552863A>C | CA350344980 | BMPR2 | c.1561A>C (p.Met521Leu) c.1492A>C (p.Met498Leu) | gnomAD v4 |
2 | g.202552863A>G | CA350344981 | BMPR2 | c.1561A>G (p.Met521Val) c.1492A>G (p.Met498Val) | gnomAD v4 COSMIC |
2 | g.202552863A>T | CA350344983 | BMPR2 | c.1561A>T (p.Met521Leu) c.1492A>T (p.Met498Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552863_202552864insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC | CA2740359266 | BMPR2 | c.1561_1562insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC (p.Met521delinsSerLeuLeuAspSerSerLeuThrPhePheProPheSerLeuGluGlnLeuCysSerLeu) c.1492_1493insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC (p.Met498delinsSerLeuLeuAspSerSerLeuThrPhePheProPheSerLeuGluGlnLeuCysSerLeu) | |
2 | g.202552864T>A | CA350344984 | BMPR2 | c.1562T>A (p.Met521Lys) c.1493T>A (p.Met498Lys) | gnomAD v4 |
2 | g.202552864T>C | CA350344986 | BMPR2 | c.1562T>C (p.Met521Thr) c.1493T>C (p.Met498Thr) | gnomAD v4 |
2 | g.202552864T>G | CA350344988 | BMPR2 | c.1562T>G (p.Met521Arg) c.1493T>G (p.Met498Arg) |