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.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) | |
2 | g.202552865G>A | CA350344990 | BMPR2 | c.1563G>A (p.Met521Ile) c.1494G>A (p.Met498Ile) | |
2 | g.202552865G>C | CA350344992 | BMPR2 | c.1563G>C (p.Met521Ile) c.1494G>C (p.Met498Ile) | |
2 | g.202552865G>T | CA350344994 | BMPR2 | c.1563G>T (p.Met521Ile) c.1494G>T (p.Met498Ile) | |
2 | g.202552866T>A | CA350344996 | BMPR2 | c.1564T>A (p.Ser522Thr) c.1495T>A (p.Ser499Thr) | |
2 | g.202552866T>C | CA350345000 | BMPR2 | c.1564T>C (p.Ser522Pro) c.1495T>C (p.Ser499Pro) | |
2 | g.202552866T>G | CA350344998 | BMPR2 | c.1564T>G (p.Ser522Ala) c.1495T>G (p.Ser499Ala) | |
2 | g.202552867C>A | CA350345002 | BMPR2 | c.1565C>A (p.Ser522Tyr) c.1496C>A (p.Ser499Tyr) | COSMIC |
2 | g.202552867C>G | CA350345003 | BMPR2 | c.1565C>G (p.Ser522Cys) c.1496C>G (p.Ser499Cys) | |
2 | g.202552867C>T | CA350345004 | BMPR2 | c.1565C>T (p.Ser522Phe) c.1496C>T (p.Ser499Phe) | |
2 | g.202552868T>A | CA430860235 | BMPR2 | c.1566T>A (p.Ser522=) c.1497T>A (p.Ser499=) | |
2 | g.202552868T>C | CA430860236 | BMPR2 | c.1566T>C (p.Ser522=) c.1497T>C (p.Ser499=) | |
2 | g.202552868T>G | CA430860237 | BMPR2 | c.1566T>G (p.Ser522=) c.1497T>G (p.Ser499=) | |
2 | g.202552869A= | CA1321556753 | BMPR2 | c.1567A= (p.Thr523=) c.1498A= (p.Thr500=) | |
2 | g.202552869A>C | CA350345006 | BMPR2 | c.1567A>C (p.Thr523Pro) c.1498A>C (p.Thr500Pro) | |
2 | g.202552869A>G | CA2061390 | BMPR2 | c.1567A>G (p.Thr523Ala) c.1498A>G (p.Thr500Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552869A>T | CA350345009 | BMPR2 | c.1567A>T (p.Thr523Ser) c.1498A>T (p.Thr500Ser) | |
2 | g.202552870C>A | CA350345011 | BMPR2 | c.1568C>A (p.Thr523Asn) c.1499C>A (p.Thr500Asn) | |
2 | g.202552870C>G | CA350345013 | BMPR2 | c.1568C>G (p.Thr523Ser) c.1499C>G (p.Thr500Ser) | |
2 | g.202552870C>T | CA350345015 | BMPR2 | c.1568C>T (p.Thr523Ile) c.1499C>T (p.Thr500Ile) | gnomAD v4 |
2 | g.202552871T>A | CA430860249 | BMPR2 | c.1569T>A (p.Thr523=) c.1500T>A (p.Thr500=) | |
2 | g.202552871T>C | CA430860251 | BMPR2 | c.1569T>C (p.Thr523=) c.1500T>C (p.Thr500=) | |
2 | g.202552871T>G | CA430860252 | BMPR2 | c.1569T>G (p.Thr523=) c.1500T>G (p.Thr500=) | |
2 | g.202552872G>A | CA350345017 | BMPR2 | c.1570G>A (p.Ala524Thr) c.1501G>A (p.Ala501Thr) | gnomAD v4 |
2 | g.202552872G>C | CA350345019 | BMPR2 | c.1570G>C (p.Ala524Pro) c.1501G>C (p.Ala501Pro) | gnomAD v4 |
2 | g.202552872G= | CA1321556755 | BMPR2 | c.1570G= (p.Ala524=) c.1501G= (p.Ala501=) | |
2 | g.202552872G>T | CA350345021 | BMPR2 | c.1570G>T (p.Ala524Ser) c.1501G>T (p.Ala501Ser) | dbSNP |
2 | g.202552873C>A | CA350345027 | BMPR2 | c.1571C>A (p.Ala524Asp) c.1502C>A (p.Ala501Asp) | |
2 | g.202552873C>G | CA350345023 | BMPR2 | c.1571C>G (p.Ala524Gly) c.1502C>G (p.Ala501Gly) | gnomAD v4 |
2 | g.202552873C>T | CA350345025 | BMPR2 | c.1571C>T (p.Ala524Val) c.1502C>T (p.Ala501Val) | |
2 | g.202552874T>A | CA430860257 | BMPR2 | c.1572T>A (p.Ala524=) c.1503T>A (p.Ala501=) | |
2 | g.202552874T>C | CA430860262 | BMPR2 | c.1572T>C (p.Ala524=) c.1503T>C (p.Ala501=) | |
2 | g.202552874T>G | CA430860265 | BMPR2 | c.1572T>G (p.Ala524=) c.1503T>G (p.Ala501=) | |
2 | g.202552875A>C | CA350345029 | BMPR2 | c.1573A>C (p.Met525Leu) c.1504A>C (p.Met502Leu) | |
2 | g.202552875A>G | CA350345030 | BMPR2 | c.1573A>G (p.Met525Val) c.1504A>G (p.Met502Val) | gnomAD v4 |
2 | g.202552875A>T | CA350345032 | BMPR2 | c.1573A>T (p.Met525Leu) c.1504A>T (p.Met502Leu) | |
2 | g.202552876T>A | CA350345034 | BMPR2 | c.1574T>A (p.Met525Lys) c.1505T>A (p.Met502Lys) | COSMIC |
2 | g.202552876T>C | CA350345036 | BMPR2 | c.1574T>C (p.Met525Thr) c.1505T>C (p.Met502Thr) | |
2 | g.202552876T>G | CA350345038 | BMPR2 | c.1574T>G (p.Met525Arg) c.1505T>G (p.Met502Arg) | |
2 | g.202552877G>A | CA2061391 | BMPR2 | c.1575G>A (p.Met525Ile) c.1506G>A (p.Met502Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552877G>C | CA350345042 | BMPR2 | c.1575G>C (p.Met525Ile) c.1506G>C (p.Met502Ile) | |
2 | g.202552877G= | CA1321556759 | BMPR2 | c.1575G= (p.Met525=) c.1506G= (p.Met502=) | |
2 | g.202552877G>T | CA350345043 | BMPR2 | c.1575G>T (p.Met525Ile) c.1506G>T (p.Met502Ile) | |
2 | g.202552878C>A | CA350345045 | BMPR2 | c.1576C>A (p.Gln526Lys) c.1507C>A (p.Gln503Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552878C= | CA1321556764 | BMPR2 | c.1576C= (p.Gln526=) c.1507C= (p.Gln503=) | |
2 | g.202552878C>G | CA2061392 | BMPR2 | c.1576C>G (p.Gln526Glu) c.1507C>G (p.Gln503Glu) | dbSNP ExAC gnomAD v2 |
2 | g.202552878C>T | CA350345048 | BMPR2 | c.1576C>T (p.Gln526Ter) c.1507C>T (p.Gln503Ter) | |
2 | g.202552879A= | CA1321556767 | BMPR2 | c.1577A= (p.Gln526=) c.1508A= (p.Gln503=) | |
2 | g.202552879A>C | CA2061393 | BMPR2 | c.1577A>C (p.Gln526Pro) c.1508A>C (p.Gln503Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202552879A>G | CA350345053 | BMPR2 | c.1577A>G (p.Gln526Arg) c.1508A>G (p.Gln503Arg) | COSMIC |
2 | g.202552879A>T | CA350345050 | BMPR2 | c.1577A>T (p.Gln526Leu) c.1508A>T (p.Gln503Leu) | |
2 | g.202552880G>A | CA430860276 | BMPR2 | c.1578G>A (p.Gln526=) c.1509G>A (p.Gln503=) | |
2 | g.202552880G>C | CA350345058 | BMPR2 | c.1578G>C (p.Gln526His) c.1509G>C (p.Gln503His) | |
2 | g.202552880G>T | CA350345056 | BMPR2 | c.1578G>T (p.Gln526His) c.1509G>T (p.Gln503His) | |
2 | g.202552881A= | CA1321556769 | BMPR2 | c.1579A= (p.Asn527=) c.1510A= (p.Asn504=) | |
2 | g.202552881A>C | CA350345064 | BMPR2 | c.1579A>C (p.Asn527His) c.1510A>C (p.Asn504His) | |
2 | g.202552881A>G | CA350345060 | BMPR2 | c.1579A>G (p.Asn527Asp) c.1510A>G (p.Asn504Asp) | |
2 | g.202552881A>T | CA350345062 | BMPR2 | c.1579A>T (p.Asn527Tyr) c.1510A>T (p.Asn504Tyr) | dbSNP |
2 | g.202552882A>C | CA350345066 | BMPR2 | c.1580A>C (p.Asn527Thr) c.1511A>C (p.Asn504Thr) | |
2 | g.202552882A>G | CA350345068 | BMPR2 | c.1580A>G (p.Asn527Ser) c.1511A>G (p.Asn504Ser) | |
2 | g.202552882A>T | CA350345070 | BMPR2 | c.1580A>T (p.Asn527Ile) c.1511A>T (p.Asn504Ile) | |
2 | g.202552883T>A | CA350345071 | BMPR2 | c.1581T>A (p.Asn527Lys) c.1512T>A (p.Asn504Lys) | |
2 | g.202552883T>C | CA430860298 | BMPR2 | c.1581T>C (p.Asn527=) c.1512T>C (p.Asn504=) | |
2 | g.202552883T>G | CA2061394 | BMPR2 | c.1581T>G (p.Asn527Lys) c.1512T>G (p.Asn504Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202552883T= | CA1321556772 | BMPR2 | c.1581T= (p.Asn527=) c.1512T= (p.Asn504=) | |
2 | g.202552884G>A | CA350345072 | BMPR2 | c.1582G>A (p.Glu528Lys) c.1513G>A (p.Glu505Lys) | |
2 | g.202552884G>C | CA350345073 | BMPR2 | c.1582G>C (p.Glu528Gln) c.1513G>C (p.Glu505Gln) | |
2 | g.202552884G>T | CA350345074 | BMPR2 | c.1582G>T (p.Glu528Ter) c.1513G>T (p.Glu505Ter) | |
2 | g.202552885A>C | CA350345075 | BMPR2 | c.1583A>C (p.Glu528Ala) c.1514A>C (p.Glu505Ala) | |
2 | g.202552885A>G | CA350345076 | BMPR2 | c.1583A>G (p.Glu528Gly) c.1514A>G (p.Glu505Gly) | |
2 | g.202552885A>T | CA350345077 | BMPR2 | c.1583A>T (p.Glu528Val) c.1514A>T (p.Glu505Val) | |
2 | g.202552886A>C | CA350345079 | BMPR2 | c.1584A>C (p.Glu528Asp) c.1515A>C (p.Glu505Asp) | |
2 | g.202552886A>G | CA430860311 | BMPR2 | c.1584A>G (p.Glu528=) c.1515A>G (p.Glu505=) | |
2 | g.202552886A>T | CA350345078 | BMPR2 | c.1584A>T (p.Glu528Asp) c.1515A>T (p.Glu505Asp) | |
2 | g.202552886_202552887delinsAC | CA1321556775 | BMPR2 | c.1584_1585delinsAC (p.Glu528=) c.1515_1516delinsAC (n.[c.1515_1516delinsAC;Glu505=]) | |
2 | g.202552887del | CA645293983 | BMPR2 | c.1585del (p.Arg529AlafsTer?) c.1516del (n.1516del) c.1585del (p.Arg529ValfsTer?) | ClinVar dbSNP |
2 | g.202552887C>A | CA350345080 | BMPR2 | c.1585C>A (p.Arg529Ser) c.1516C>A (n.1516C>A) | |
2 | g.202552887C= | CA1321556778 | BMPR2 | c.1585C= (p.Arg529=) c.1516C= (n.1516C=) | |
2 | g.202552887C>G | CA350345081 | BMPR2 | c.1585C>G (p.Arg529Gly) c.1516C>G (n.1516C>G) | |
2 | g.202552887C>T | CA2061395 | BMPR2 | c.1585C>T (p.Arg529Cys) c.1516C>T (n.1516C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552888G>A | CA64041148 | BMPR2 | c.1586G>A (p.Arg529His) c.1517G>A (n.1517G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552888G>C | CA350345082 | BMPR2 | c.1586G>C (p.Arg529Pro) c.1517G>C (n.1517G>C) | gnomAD v4 |
2 | g.202552888G= | CA1321556780 | BMPR2 | c.1586G= (p.Arg529=) c.1517G= (n.1517G=) | |
2 | g.202552888G>T | CA350345083 | BMPR2 | c.1586G>T (p.Arg529Leu) c.1517G>T (n.1517G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552889G>A | CA350345084 | BMPR2 | c.1586+1G>A (n.1586+1G>A) c.1517+1G>A (n.1517+1G>A) | |
2 | g.202552889G>C | CA350345085 | BMPR2 | c.1586+1G>C (n.1586+1G>C) c.1517+1G>C (n.1517+1G>C) | |
2 | g.202552889G= | CA1321556782 | BMPR2 | c.1586+1G= (n.1586+1G=) c.1517+1G= (n.1517+1G=) | |
2 | g.202552889G>T | CA2061396 | BMPR2 | c.1586+1G>T (n.1586+1G>T) c.1517+1G>T (n.1517+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202552890T>A | CA350345086 | BMPR2 | c.1586+2T>A (n.1586+2T>A) c.1517+2T>A (n.1517+2T>A) | |
2 | g.202552890T>C | CA350345087 | BMPR2 | c.1586+2T>C (n.1586+2T>C) c.1517+2T>C (n.1517+2T>C) | gnomAD v4 |
2 | g.202552890T>G | CA350345088 | BMPR2 | c.1586+2T>G (n.1586+2T>G) c.1517+2T>G (n.1517+2T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552890T= | CA1321556783 | BMPR2 | c.1586+2T= (n.1586+2T=) c.1517+2T= (n.1517+2T=) | |
2 | g.202552890dup | CA2577215740 | BMPR2 | c.1586+2dup (n.1586+2dup) c.1517+2dup (n.1517+2dup) | |
2 | g.202552892dup | CA2838818110 | BMPR2 | c.1586+4dup (n.1586+4dup) c.1517+4dup (n.1517+4dup) | |
2 | g.202552892A= | CA1321556785 | BMPR2 | c.1586+4A= (n.1586+4A=) c.1517+4A= (n.1517+4A=) | |
2 | g.202552892A>G | CA539387023 | BMPR2 | c.1586+4A>G (n.1586+4A>G) c.1517+4A>G (n.1517+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202552893G>A | CA2662706609 | BMPR2 | c.1586+5G>A (n.1586+5G>A) c.1517+5G>A (n.1517+5G>A) | gnomAD v4 |
2 | g.202552893G>C | CA2662706610 | BMPR2 | c.1586+5G>C (n.1586+5G>C) c.1517+5G>C (n.1517+5G>C) | gnomAD v4 |
2 | g.202552894A= | CA1321556786 | BMPR2 | c.1586+6A= (n.1586+6A=) c.1517+6A= (n.1517+6A=) | |
2 | g.202552894A>T | CA2061397 | BMPR2 | c.1586+6A>T (n.1586+6A>T) c.1517+6A>T (n.1517+6A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552894_202552895insAGAGAAAAAATTGATTTTAGTCAGCAATGAATGTCCAATGCTTAGCTCACTCTAGGAAG | CA2538523993 | BMPR2 | c.1586+6_1586+7insAGAGAAAAAATTGATTTTAGTCAGCAATGAATGTCCAATGCTTAGCTCACTCTAGGAAG (n.1586+6_1586+7insAGAGAAAAAATTGATTTTAGTCAGCAATGAATGTCCAATGCTTAGCTCACTCTAGGAAG) c.1517+6_1517+7insAGAGAAAAAATTGATTTTAGTCAGCAATGAATGTCCAATGCTTAGCTCACTCTAGGAAG (n.1517+6_1517+7insAGAGAAAAAATTGATTTTAGTCAGCAATGAATGTCCAATGCTTAGCTCACTCTAGGAAG) | |
2 | g.202552895C= | CA1321556788 | BMPR2 | c.1586+7C= (n.1586+7C=) c.1517+7C= (n.1517+7C=) | |
2 | g.202552895_202552896insAAAGTA | CA539387024 | BMPR2 | c.1586+7_1586+8insAAAGTA (n.1586+7_1586+8insAAAGTA) c.1517+7_1517+8insAAAGTA (n.1517+7_1517+8insAAAGTA) | dbSNP gnomAD v2 |
2 | g.202552896C= | CA1321556790 | BMPR2 | c.1586+8C= (n.1586+8C=) c.1517+8C= (n.1517+8C=) | |
2 | g.202552896_202552897insATGT | CA539387025 | BMPR2 | c.1586+8_1586+9insATGT (n.1586+8_1586+9insATGT) c.1517+8_1517+9insATGT (n.1517+8_1517+9insATGT) | dbSNP gnomAD v2 |
2 | g.202552898T>C | CA2662706611 | BMPR2 | c.1586+10T>C (n.1586+10T>C) c.1517+10T>C (n.1517+10T>C) | gnomAD v4 |
2 | g.202552900A>G | CA2577215741 | BMPR2 | c.1586+12A>G (n.1586+12A>G) c.1517+12A>G (n.1517+12A>G) | |
2 | g.202552901G>A | CA2662706613 | BMPR2 | c.1586+13G>A (n.1586+13G>A) c.1517+13G>A (n.1517+13G>A) | gnomAD v4 |
2 | g.202552904del | CA2662706612 | BMPR2 | c.1586+16del (n.1586+16del) c.1517+16del (n.1517+16del) | gnomAD v4 |
2 | g.202552902G>A | CA2753906652 | BMPR2 | c.1586+14G>A (n.1586+14G>A) c.1517+14G>A (n.1517+14G>A) | |
2 | g.202552903G= | CA1321556794 | BMPR2 | c.1586+15G= (n.1586+15G=) c.1517+15G= (n.1517+15G=) | |
2 | g.202552903G>T | CA539387026 | BMPR2 | c.1586+15G>T (n.1586+15G>T) c.1517+15G>T (n.1517+15G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202552904G= | CA1321556796 | BMPR2 | c.1586+16G= (n.1586+16G=) c.1517+16G= (n.1517+16G=) | |
2 | g.202552904G>T | CA539387027 | BMPR2 | c.1586+16G>T (n.1586+16G>T) c.1517+16G>T (n.1517+16G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552906G>A | CA2662706614 | BMPR2 | c.1586+18G>A (n.1586+18G>A) c.1517+18G>A (n.1517+18G>A) | gnomAD v4 |
2 | g.202552906G>C | CA1041345522 | BMPR2 | c.1586+18G>C (n.1586+18G>C) c.1517+18G>C (n.1517+18G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552906G= | CA1321556797 | BMPR2 | c.1586+18G= (n.1586+18G=) c.1517+18G= (n.1517+18G=) | |
2 | g.202552907T>A | CA2553085400 | BMPR2 | c.1586+19T>A (n.1586+19T>A) c.1517+19T>A (n.1517+19T>A) | |
2 | g.202552909dup | CA2662706615 | BMPR2 | c.1586+21dup (n.1586+21dup) c.1517+21dup (n.1517+21dup) | gnomAD v4 |
2 | g.202552909G>A | CA1321556800 | BMPR2 | c.1586+21G>A (n.1586+21G>A) c.1517+21G>A (n.1517+21G>A) | dbSNP |
2 | g.202552909G= | CA1321556798 | BMPR2 | c.1586+21G= (n.1586+21G=) c.1517+21G= (n.1517+21G=) | |
2 | g.202552909G>T | CA64041160 | BMPR2 | c.1586+21G>T (n.1586+21G>T) c.1517+21G>T (n.1517+21G>T) | dbSNP |
2 | g.202552910C= | CA1321556801 | BMPR2 | c.1586+22C= (n.1586+22C=) c.1517+22C= (n.1517+22C=) | |
2 | g.202552910C>T | CA64041161 | BMPR2 | c.1586+22C>T (n.1586+22C>T) c.1517+22C>T (n.1517+22C>T) | dbSNP |
2 | g.202552911A= | CA1321556804 | BMPR2 | c.1586+23A= (n.1586+23A=) c.1517+23A= (n.1517+23A=) | |
2 | g.202552911A>G | CA430860330 | BMPR2 | c.1586+23A>G (n.1586+23A>G) c.1517+23A>G (n.1517+23A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552911A>T | CA2662706616 | BMPR2 | c.1586+23A>T (n.1586+23A>T) c.1517+23A>T (n.1517+23A>T) | gnomAD v4 |
2 | g.202552913dup | CA2662706617 | BMPR2 | c.1586+25dup (n.1586+25dup) c.1517+25dup (n.1517+25dup) | gnomAD v4 |
2 | g.202552915_202552920del | CA2753906653 | BMPR2 | c.1586+27_1586+32del (n.1586+27_1586+32del) c.1517+27_1517+32del (n.1517+27_1517+32del) | |
2 | g.202552915A= | CA1321556807 | BMPR2 | c.1586+27A= (n.1586+27A=) c.1517+27A= (n.1517+27A=) | |
2 | g.202552915A>G | CA2061398 | BMPR2 | c.1586+27A>G (n.1586+27A>G) c.1517+27A>G (n.1517+27A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202552916T>C | CA2577215742 | BMPR2 | c.1586+28T>C (n.1586+28T>C) c.1517+28T>C (n.1517+28T>C) | |
2 | g.202552917C= | CA1321556810 | BMPR2 | c.1586+29C= (n.1586+29C=) c.1517+29C= (n.1517+29C=) | |
2 | g.202552917C>T | CA1041345525 | BMPR2 | c.1586+29C>T (n.1586+29C>T) c.1517+29C>T (n.1517+29C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552918A= | CA1321556812 | BMPR2 | c.1586+30A= (n.1586+30A=) c.1517+30A= (n.1517+30A=) | |
2 | g.202552918A>C | CA64041169 | BMPR2 | c.1586+30A>C (n.1586+30A>C) c.1517+30A>C (n.1517+30A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552918A>G | CA647717978 | BMPR2 | c.1586+30A>G (n.1586+30A>G) c.1517+30A>G (n.1517+30A>G) | COSMIC |
2 | g.202552919A>G | CA2577215743 | BMPR2 | c.1586+31A>G (n.1586+31A>G) c.1517+31A>G (n.1517+31A>G) | gnomAD v4 |
2 | g.202552921C>A | CA2662706618 | BMPR2 | c.1586+33C>A (n.1586+33C>A) c.1517+33C>A (n.1517+33C>A) | gnomAD v4 |
2 | g.202552923G>C | CA1321556815 | BMPR2 | c.1586+35G>C (n.1586+35G>C) c.1517+35G>C (n.1517+35G>C) | dbSNP |
2 | g.202552923G= | CA1321556814 | BMPR2 | c.1586+35G= (n.1586+35G=) c.1517+35G= (n.1517+35G=) | |
2 | g.202552925A= | CA1321556818 | BMPR2 | c.1586+37A= (n.1586+37A=) c.1517+37A= (n.1517+37A=) | |
2 | g.202552925A>G | CA539387028 | BMPR2 | c.1586+37A>G (n.1586+37A>G) c.1517+37A>G (n.1517+37A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202552928A>G | CA2577215744 | BMPR2 | c.1586+40A>G (n.1586+40A>G) c.1517+40A>G (n.1517+40A>G) | gnomAD v4 |
2 | g.202552929G>A | CA2577215745 | BMPR2 | c.1586+41G>A (n.1586+41G>A) c.1517+41G>A (n.1517+41G>A) | gnomAD v4 |
2 | g.202552932A>G | CA2662706619 | BMPR2 | c.1586+44A>G (n.1586+44A>G) c.1517+44A>G (n.1517+44A>G) | gnomAD v4 |
2 | g.202552933C= | CA1321556820 | BMPR2 | c.1586+45C= (n.1586+45C=) c.1517+45C= (n.1517+45C=) | |
2 | g.202552934T>A | CA2662706620 | BMPR2 | c.1586+46T>A (n.1586+46T>A) c.1517+46T>A (n.1517+46T>A) | gnomAD v4 |
2 | g.202552934dup | CA2061399 | BMPR2 | c.1586+46dup (n.1586+46dup) c.1517+46dup (n.1517+46dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552936A>T | CA2839800101 | BMPR2 | c.1586+48A>T (n.1586+48A>T) c.1517+48A>T (n.1517+48A>T) | |
2 | g.202552937G>A | CA2662706622 | BMPR2 | c.1586+49G>A (n.1586+49G>A) c.1517+49G>A (n.1517+49G>A) | dbSNP gnomAD v4 |
2 | g.202552937G>C | CA2662706621 | BMPR2 | c.1586+49G>C (n.1586+49G>C) c.1517+49G>C (n.1517+49G>C) | gnomAD v4 |
2 | g.202552938A= | CA1321556822 | BMPR2 | c.1586+50A= (n.1586+50A=) c.1517+50A= (n.1517+50A=) | |
2 | g.202552938A>T | CA2061400 | BMPR2 | c.1586+50A>T (n.1586+50A>T) c.1517+50A>T (n.1517+50A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552939C= | CA1321556825 | BMPR2 | c.1586+51C= (n.1586+51C=) c.1517+51C= (n.1517+51C=) | |
2 | g.202552939C>T | CA1321556827 | BMPR2 | c.1586+51C>T (n.1586+51C>T) c.1517+51C>T (n.1517+51C>T) | dbSNP |
2 | g.202552940C= | CA1321556830 | BMPR2 | c.1586+52C= (n.1586+52C=) c.1517+52C= (n.1517+52C=) | |
2 | g.202552940C>G | CA2061401 | BMPR2 | c.1586+52C>G (n.1586+52C>G) c.1517+52C>G (n.1517+52C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552941C= | CA1321556833 | BMPR2 | c.1586+53C= (n.1586+53C=) c.1517+53C= (n.1517+53C=) | |
2 | g.202552941C>T | CA539387029 | BMPR2 | c.1586+53C>T (n.1586+53C>T) c.1517+53C>T (n.1517+53C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202552943A>G | CA2662706623 | BMPR2 | c.1586+55A>G (n.1586+55A>G) c.1517+55A>G (n.1517+55A>G) | gnomAD v4 |
2 | g.202552944C>A | CA2662706624 | BMPR2 | c.1586+56C>A (n.1586+56C>A) c.1517+56C>A (n.1517+56C>A) | gnomAD v4 |
2 | g.202552944C= | CA1321556835 | BMPR2 | c.1586+56C= (n.1586+56C=) c.1517+56C= (n.1517+56C=) | |
2 | g.202552944C>T | CA539387030 | BMPR2 | c.1586+56C>T (n.1586+56C>T) c.1517+56C>T (n.1517+56C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202552945A= | CA1321556837 | BMPR2 | c.1586+57A= (n.1586+57A=) c.1517+57A= (n.1517+57A=) | |
2 | g.202552945A>C | CA1321556838 | BMPR2 | c.1586+57A>C (n.1586+57A>C) c.1517+57A>C (n.1517+57A>C) | dbSNP gnomAD v4 |
2 | g.202552945_202552946insC | CA2753906654 | BMPR2 | c.1586+57_1586+58insC (n.1586+57_1586+58insC) c.1517+57_1517+58insC (n.1517+57_1517+58insC) | |
2 | g.202552945_202552946insCACCCAACAC | CA2753906655 | BMPR2 | c.1586+57_1586+58insCACCCAACAC (n.1586+57_1586+58insCACCCAACAC) c.1517+57_1517+58insCACCCAACAC (n.1517+57_1517+58insCACCCAACAC) | |
2 | g.202552946A= | CA1321556839 | BMPR2 | c.1586+58A= (n.1586+58A=) c.1517+58A= (n.1517+58A=) | |
2 | g.202552946A>G | CA763450901 | BMPR2 | c.1586+58A>G (n.1586+58A>G) c.1517+58A>G (n.1517+58A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202552947A>G | CA2577215746 | BMPR2 | c.1586+59A>G (n.1586+59A>G) c.1517+59A>G (n.1517+59A>G) | |
2 | g.202552950A= | CA1321556841 | BMPR2 | c.1586+62A= (n.1586+62A=) c.1517+62A= (n.1517+62A=) | |
2 | g.202552950A>G | CA763450903 | BMPR2 | c.1586+62A>G (n.1586+62A>G) c.1517+62A>G (n.1517+62A>G) | dbSNP gnomAD v4 |
2 | g.202552951T>C | CA2662706625 | BMPR2 | c.1586+63T>C (n.1586+63T>C) c.1517+63T>C (n.1517+63T>C) | gnomAD v4 |
2 | g.202552952A>G | CA2662706626 | BMPR2 | c.1586+64A>G (n.1586+64A>G) c.1517+64A>G (n.1517+64A>G) | gnomAD v4 |
2 | g.202552953G>A | CA2753906656 | BMPR2 | c.1586+65G>A (n.1586+65G>A) c.1517+65G>A (n.1517+65G>A) | |
2 | g.202552954A= | CA1321556844 | BMPR2 | c.1586+66A= (n.1586+66A=) c.1517+66A= (n.1517+66A=) | |
2 | g.202552954A>C | CA1321556845 | BMPR2 | c.1586+66A>C (n.1586+66A>C) c.1517+66A>C (n.1517+66A>C) | dbSNP |
2 | g.202552956A>G | CA2662706627 | BMPR2 | c.1586+68A>G (n.1586+68A>G) c.1517+68A>G (n.1517+68A>G) | gnomAD v4 |
2 | g.202552956A>T | CA2662706628 | BMPR2 | c.1586+68A>T (n.1586+68A>T) c.1517+68A>T (n.1517+68A>T) | gnomAD v4 |