Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202541890_202550241del | CA915941652 | BMPR2 | c.1277-421_1414-2475del c.1208-421_1345-2475del | ClinVar |
2 | g.202542006_202547980del | CA915941653 | BMPR2 | c.1277-305_1414-4736del c.1208-305_1345-4736del | ClinVar |
2 | g.202542022_202547184del | CA645293836 | BMPR2 | c.1277-289_1413+4737del c.1208-289_1344+4737del | ClinVar |
2 | g.202542396T>A | CA430854550 | BMPR2 | c.1362T>A (p.Ser454=) c.1293T>A (p.Ser431=) | |
2 | g.202542396T>C | CA430854552 | BMPR2 | c.1362T>C (p.Ser454=) c.1293T>C (p.Ser431=) | ClinVar dbSNP gnomAD v4 |
2 | g.202542396T>G | CA430854555 | BMPR2 | c.1362T>G (p.Ser454=) c.1293T>G (p.Ser431=) | |
2 | g.202542397A>C | CA430854559 | BMPR2 | c.1363A>C (p.Arg455=) c.1294A>C (p.Arg432=) | |
2 | g.202542397A>G | CA350342923 | BMPR2 | c.1363A>G (p.Arg455Gly) c.1294A>G (p.Arg432Gly) | gnomAD v4 |
2 | g.202542397A>T | CA350342924 | BMPR2 | c.1363A>T (p.Arg455Trp) c.1294A>T (p.Arg432Trp) | |
2 | g.202542398G>A | CA350342925 | BMPR2 | c.1364G>A (p.Arg455Lys) c.1295G>A (p.Arg432Lys) | |
2 | g.202542398G>C | CA350342927 | BMPR2 | c.1364G>C (p.Arg455Thr) c.1295G>C (p.Arg432Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202542398G= | CA1321550626 | BMPR2 | c.1364G= (p.Arg455=) c.1295G= (p.Arg432=) | |
2 | g.202542398G>T | CA350342926 | BMPR2 | c.1364G>T (p.Arg455Met) c.1295G>T (p.Arg432Met) | |
2 | g.202542399G>A | CA430854571 | BMPR2 | c.1365G>A (p.Arg455=) c.1296G>A (p.Arg432=) | |
2 | g.202542399G>C | CA350342928 | BMPR2 | c.1365G>C (p.Arg455Ser) c.1296G>C (p.Arg432Ser) | gnomAD v4 |
2 | g.202542399G>T | CA350342929 | BMPR2 | c.1365G>T (p.Arg455Ser) c.1296G>T (p.Arg432Ser) | |
2 | g.202542399_202542400delinsGG | CA1321550627 | BMPR2 | c.1365_1366delinsGG (p.Arg455=) c.1296_1297delinsGG (p.Arg432=) | |
2 | g.202542400G>A | CA350342930 | BMPR2 | c.1366G>A (p.Glu456Lys) c.1297G>A (p.Glu433Lys) | |
2 | g.202542400G>C | CA350342931 | BMPR2 | c.1366G>C (p.Glu456Gln) c.1297G>C (p.Glu433Gln) | |
2 | g.202542400G>T | CA350342932 | BMPR2 | c.1366G>T (p.Glu456Ter) c.1297G>T (p.Glu433Ter) | |
2 | g.202542400delinsCA | CA645293844 | BMPR2 | c.1366delinsCA (p.Glu456GlnfsTer15) c.1297delinsCA (p.Glu433GlnfsTer15) | ClinVar dbSNP |
2 | g.202542400_202542401delinsGA | CA1321550628 | BMPR2 | c.1366_1367delinsGA (p.Glu456=) c.1297_1298delinsGA (p.Glu433=) | |
2 | g.202542401A= | CA1321550629 | BMPR2 | c.1367A= (p.Glu456=) c.1298A= (p.Glu433=) | |
2 | g.202542401A>C | CA350342933 | BMPR2 | c.1367A>C (p.Glu456Ala) c.1298A>C (p.Glu433Ala) | |
2 | g.202542401A>G | CA350342934 | BMPR2 | c.1367A>G (p.Glu456Gly) c.1298A>G (p.Glu433Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202542401A>T | CA350342935 | BMPR2 | c.1367A>T (p.Glu456Val) c.1298A>T (p.Glu433Val) | |
2 | g.202542405dup | CA645293845 | BMPR2 | c.1371dup (p.Gln458ThrfsTer13) c.1302dup (p.Gln435ThrfsTer13) | ClinVar dbSNP |
2 | g.202542405del | CA645293846 | BMPR2 | c.1371del (p.Lys457AsnfsTer17) c.1302del (p.Lys434AsnfsTer17) | ClinVar dbSNP COSMIC |
2 | g.202542402A= | CA1321550630 | BMPR2 | c.1368A= (p.Glu456=) c.1299A= (p.Glu433=) | |
2 | g.202542402A>C | CA350342936 | BMPR2 | c.1368A>C (p.Glu456Asp) c.1299A>C (p.Glu433Asp) | |
2 | g.202542402A>G | CA430854596 | BMPR2 | c.1368A>G (p.Glu456=) c.1299A>G (p.Glu433=) | |
2 | g.202542402A>T | CA350342937 | BMPR2 | c.1368A>T (p.Glu456Asp) c.1299A>T (p.Glu433Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542403A>C | CA350342938 | BMPR2 | c.1369A>C (p.Lys457Gln) c.1300A>C (p.Lys434Gln) | |
2 | g.202542403A>G | CA350342939 | BMPR2 | c.1369A>G (p.Lys457Glu) c.1300A>G (p.Lys434Glu) | |
2 | g.202542403A>T | CA350342940 | BMPR2 | c.1369A>T (p.Lys457Ter) c.1300A>T (p.Lys434Ter) | |
2 | g.202542404_202542407del | CA2586971107 | BMPR2 | c.1370_1373del (p.Lys457ArgfsTer16) c.1301_1304del (p.Lys434ArgfsTer16) | |
2 | g.202542404A>C | CA350342941 | BMPR2 | c.1370A>C (p.Lys457Thr) c.1301A>C (p.Lys434Thr) | |
2 | g.202542404A>G | CA350342943 | BMPR2 | c.1370A>G (p.Lys457Arg) c.1301A>G (p.Lys434Arg) | |
2 | g.202542404A>T | CA350342942 | BMPR2 | c.1370A>T (p.Lys457Ile) c.1301A>T (p.Lys434Ile) | |
2 | g.202542404_202542406delinsAAC | CA1321550631 | BMPR2 | c.1370_1372delinsAAC (p.Lys457=) c.1301_1303delinsAAC (p.Lys434=) | |
2 | g.202542405A= | CA1321550632 | BMPR2 | c.1371A= (p.Lys457=) c.1302A= (p.Lys434=) | |
2 | g.202542405A>C | CA350342944 | BMPR2 | c.1371A>C (p.Lys457Asn) c.1302A>C (p.Lys434Asn) | |
2 | g.202542405A>G | CA430854622 | BMPR2 | c.1371A>G (p.Lys457=) c.1302A>G (p.Lys434=) | dbSNP gnomAD v2 |
2 | g.202542405A>T | CA350342945 | BMPR2 | c.1371A>T (p.Lys457Asn) c.1302A>T (p.Lys434Asn) | |
2 | g.202542406_202542407del | CA1139657643 | BMPR2 | c.1372_1373del (p.Gln458GlufsTer12) c.1303_1304del (p.Gln435GlufsTer12) | ClinVar dbSNP |
2 | g.202542406C>A | CA350342946 | BMPR2 | c.1372C>A (p.Gln458Lys) c.1303C>A (p.Gln435Lys) | |
2 | g.202542406C>G | CA350342947 | BMPR2 | c.1372C>G (p.Gln458Glu) c.1303C>G (p.Gln435Glu) | |
2 | g.202542406C>T | CA350342948 | BMPR2 | c.1372C>T (p.Gln458Ter) c.1303C>T (p.Gln435Ter) | |
2 | g.202542406_202542408delinsCAG | CA1321550633 | BMPR2 | c.1372_1374delinsCAG (p.Gln458=) c.1303_1305delinsCAG (p.Gln435=) | |
2 | g.202542407A>C | CA350342949 | BMPR2 | c.1373A>C (p.Gln458Pro) c.1304A>C (p.Gln435Pro) | |
2 | g.202542407A>G | CA350342950 | BMPR2 | c.1373A>G (p.Gln458Arg) c.1304A>G (p.Gln435Arg) | gnomAD v4 |
2 | g.202542407A>T | CA350342951 | BMPR2 | c.1373A>T (p.Gln458Leu) c.1304A>T (p.Gln435Leu) | |
2 | g.202542410_202542411del | CA645293847 | BMPR2 | c.1376_1377del (p.Arg459ThrfsTer11) c.1307_1308del (p.Arg436ThrfsTer11) | ClinVar dbSNP |
2 | g.202542408G>A | CA430854641 | BMPR2 | c.1374G>A (p.Gln458=) c.1305G>A (p.Gln435=) | dbSNP |
2 | g.202542408G>C | CA350342952 | BMPR2 | c.1374G>C (p.Gln458His) c.1305G>C (p.Gln435His) | |
2 | g.202542408G= | CA1321550634 | BMPR2 | c.1374G= (p.Gln458=) c.1305G= (p.Gln435=) | |
2 | g.202542408G>T | CA350342953 | BMPR2 | c.1374G>T (p.Gln458His) c.1305G>T (p.Gln435His) | |
2 | g.202542409A>C | CA430854647 | BMPR2 | c.1375A>C (p.Arg459=) c.1306A>C (p.Arg436=) | |
2 | g.202542409A>G | CA350342954 | BMPR2 | c.1375A>G (p.Arg459Gly) c.1306A>G (p.Arg436Gly) | |
2 | g.202542409A>T | CA350342955 | BMPR2 | c.1375A>T (p.Arg459Ter) c.1306A>T (p.Arg436Ter) | |
2 | g.202542410G>A | CA350342956 | BMPR2 | c.1376G>A (p.Arg459Lys) c.1307G>A (p.Arg436Lys) | gnomAD v4 |
2 | g.202542410G>C | CA350342957 | BMPR2 | c.1376G>C (p.Arg459Thr) c.1307G>C (p.Arg436Thr) | gnomAD v4 |
2 | g.202542410G>T | CA350342958 | BMPR2 | c.1376G>T (p.Arg459Ile) c.1307G>T (p.Arg436Ile) | |
2 | g.202542411A= | CA1321550635 | BMPR2 | c.1377A= (p.Arg459=) c.1308A= (p.Arg436=) | |
2 | g.202542411A>C | CA350342959 | BMPR2 | c.1377A>C (p.Arg459Ser) c.1308A>C (p.Arg436Ser) | gnomAD v4 |
2 | g.202542411A>G | CA430854669 | BMPR2 | c.1377A>G (p.Arg459=) c.1308A>G (p.Arg436=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.202542411A>T | CA350342960 | BMPR2 | c.1377A>T (p.Arg459Ser) c.1308A>T (p.Arg436Ser) | |
2 | g.202542412C>A | CA350342963 | BMPR2 | c.1378C>A (p.Pro460Thr) c.1309C>A (p.Pro437Thr) | |
2 | g.202542412C>G | CA350342962 | BMPR2 | c.1378C>G (p.Pro460Ala) c.1309C>G (p.Pro437Ala) | |
2 | g.202542412C>T | CA350342961 | BMPR2 | c.1378C>T (p.Pro460Ser) c.1309C>T (p.Pro437Ser) | |
2 | g.202542413C>A | CA350342964 | BMPR2 | c.1379C>A (p.Pro460His) c.1310C>A (p.Pro437His) | |
2 | g.202542413C= | CA1321550636 | BMPR2 | c.1379C= (p.Pro460=) c.1310C= (p.Pro437=) | |
2 | g.202542413C>G | CA350342965 | BMPR2 | c.1379C>G (p.Pro460Arg) c.1310C>G (p.Pro437Arg) | ClinVar dbSNP |
2 | g.202542413C>T | CA350342966 | BMPR2 | c.1379C>T (p.Pro460Leu) c.1310C>T (p.Pro437Leu) | gnomAD v4 |
2 | g.202542414C>A | CA430854696 | BMPR2 | c.1380C>A (p.Pro460=) c.1311C>A (p.Pro437=) | |
2 | g.202542414C>G | CA430854699 | BMPR2 | c.1380C>G (p.Pro460=) c.1311C>G (p.Pro437=) | |
2 | g.202542414C>T | CA430854702 | BMPR2 | c.1380C>T (p.Pro460=) c.1311C>T (p.Pro437=) | |
2 | g.202542415A= | CA1321550637 | BMPR2 | c.1381A= (p.Lys461=) c.1312A= (p.Lys438=) | |
2 | g.202542415A>C | CA350342967 | BMPR2 | c.1381A>C (p.Lys461Gln) c.1312A>C (p.Lys438Gln) | |
2 | g.202542415A>G | CA2061354 | BMPR2 | c.1381A>G (p.Lys461Glu) c.1312A>G (p.Lys438Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202542415A>T | CA350342968 | BMPR2 | c.1381A>T (p.Lys461Ter) c.1312A>T (p.Lys438Ter) | |
2 | g.202542416A= | CA1321550638 | BMPR2 | c.1382A= (p.Lys461=) c.1313A= (p.Lys438=) | |
2 | g.202542416A>C | CA350342969 | BMPR2 | c.1382A>C (p.Lys461Thr) c.1313A>C (p.Lys438Thr) | |
2 | g.202542416A>G | CA350342971 | BMPR2 | c.1382A>G (p.Lys461Arg) c.1313A>G (p.Lys438Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542416A>T | CA350342970 | BMPR2 | c.1382A>T (p.Lys461Met) c.1313A>T (p.Lys438Met) | |
2 | g.202542417G>A | CA430854719 | BMPR2 | c.1383G>A (p.Lys461=) c.1314G>A (p.Lys438=) | |
2 | g.202542417G>C | CA350342972 | BMPR2 | c.1383G>C (p.Lys461Asn) c.1314G>C (p.Lys438Asn) | |
2 | g.202542417G>T | CA350342973 | BMPR2 | c.1383G>T (p.Lys461Asn) c.1314G>T (p.Lys438Asn) | |
2 | g.202542418T>A | CA350342974 | BMPR2 | c.1384T>A (p.Phe462Ile) c.1315T>A (p.Phe439Ile) | |
2 | g.202542418T>C | CA350342975 | BMPR2 | c.1384T>C (p.Phe462Leu) c.1315T>C (p.Phe439Leu) | gnomAD v4 |
2 | g.202542418T>G | CA350342976 | BMPR2 | c.1384T>G (p.Phe462Val) c.1315T>G (p.Phe439Val) | |
2 | g.202542419T>A | CA350342977 | BMPR2 | c.1385T>A (p.Phe462Tyr) c.1316T>A (p.Phe439Tyr) | |
2 | g.202542419T>C | CA350342978 | BMPR2 | c.1385T>C (p.Phe462Ser) c.1316T>C (p.Phe439Ser) | |
2 | g.202542419T>G | CA350342979 | BMPR2 | c.1385T>G (p.Phe462Cys) c.1316T>G (p.Phe439Cys) | |
2 | g.202542420C>A | CA350342980 | BMPR2 | c.1386C>A (p.Phe462Leu) c.1317C>A (p.Phe439Leu) | |
2 | g.202542420C= | CA1321550639 | BMPR2 | c.1386C= (p.Phe462=) c.1317C= (p.Phe439=) | |
2 | g.202542420C>G | CA350342981 | BMPR2 | c.1386C>G (p.Phe462Leu) c.1317C>G (p.Phe439Leu) | |
2 | g.202542420C>T | CA430854747 | BMPR2 | c.1386C>T (p.Phe462=) c.1317C>T (p.Phe439=) | dbSNP |
2 | g.202542421C>A | CA350342984 | BMPR2 | c.1387C>A (p.Pro463Thr) c.1318C>A (p.Pro440Thr) | |
2 | g.202542421C= | CA1321550640 | BMPR2 | c.1387C= (p.Pro463=) c.1318C= (p.Pro440=) | |
2 | g.202542421C>G | CA350342983 | BMPR2 | c.1387C>G (p.Pro463Ala) c.1318C>G (p.Pro440Ala) | |
2 | g.202542421C>T | CA350342982 | BMPR2 | c.1387C>T (p.Pro463Ser) c.1318C>T (p.Pro440Ser) | |
2 | g.202542421_202542422insA | CA645293848 | BMPR2 | c.1387_1388insA (p.Pro463HisfsTer8) c.1318_1319insA (p.Pro440HisfsTer8) | ClinVar dbSNP |
2 | g.202542422C>A | CA350342985 | BMPR2 | c.1388C>A (p.Pro463Gln) c.1319C>A (p.Pro440Gln) | |
2 | g.202542422C= | CA1321550641 | BMPR2 | c.1388C= (p.Pro463=) c.1319C= (p.Pro440=) | |
2 | g.202542422C>G | CA350342987 | BMPR2 | c.1388C>G (p.Pro463Arg) c.1319C>G (p.Pro440Arg) | |
2 | g.202542422C>T | CA350342986 | BMPR2 | c.1388C>T (p.Pro463Leu) c.1319C>T (p.Pro440Leu) | dbSNP |
2 | g.202542423A>C | CA430854758 | BMPR2 | c.1389A>C (p.Pro463=) c.1320A>C (p.Pro440=) | |
2 | g.202542423A>G | CA430854762 | BMPR2 | c.1389A>G (p.Pro463=) c.1320A>G (p.Pro440=) | |
2 | g.202542423A>T | CA430854760 | BMPR2 | c.1389A>T (p.Pro463=) c.1320A>T (p.Pro440=) | gnomAD v4 |
2 | g.202542423dup | CA645293849 | BMPR2 | c.1389dup (p.Glu464ArgfsTer7) c.1320dup (p.Glu441ArgfsTer7) | ClinVar dbSNP |
2 | g.202542424G>A | CA350342988 | BMPR2 | c.1390G>A (p.Glu464Lys) c.1321G>A (p.Glu441Lys) | |
2 | g.202542424G>C | CA350342989 | BMPR2 | c.1390G>C (p.Glu464Gln) c.1321G>C (p.Glu441Gln) | |
2 | g.202542424G>T | CA350342990 | BMPR2 | c.1390G>T (p.Glu464Ter) c.1321G>T (p.Glu441Ter) | |
2 | g.202542424_202542425delinsGA | CA1321550642 | BMPR2 | c.1390_1391delinsGA (p.Glu464=) c.1321_1322delinsGA (p.Glu441=) | |
2 | g.202542425A= | CA1321550643 | BMPR2 | c.1391A= (p.Glu464=) c.1322A= (p.Glu441=) | |
2 | g.202542425A>C | CA350342991 | BMPR2 | c.1391A>C (p.Glu464Ala) c.1322A>C (p.Glu441Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202542425A>G | CA350342992 | BMPR2 | c.1391A>G (p.Glu464Gly) c.1322A>G (p.Glu441Gly) | |
2 | g.202542425A>T | CA350342993 | BMPR2 | c.1391A>T (p.Glu464Val) c.1322A>T (p.Glu441Val) | |
2 | g.202542426del | CA645293850 | BMPR2 | c.1392del (p.Ala465ProfsTer9) c.1323del (p.Ala442ProfsTer9) | ClinVar dbSNP |
2 | g.202542426A>C | CA350342994 | BMPR2 | c.1392A>C (p.Glu464Asp) c.1323A>C (p.Glu441Asp) | |
2 | g.202542426A>G | CA430854779 | BMPR2 | c.1392A>G (p.Glu464=) c.1323A>G (p.Glu441=) | |
2 | g.202542426A>T | CA350342995 | BMPR2 | c.1392A>T (p.Glu464Asp) c.1323A>T (p.Glu441Asp) | |
2 | g.202542427G>A | CA350342996 | BMPR2 | c.1393G>A (p.Ala465Thr) c.1324G>A (p.Ala442Thr) | dbSNP |
2 | g.202542427G>C | CA350342997 | BMPR2 | c.1393G>C (p.Ala465Pro) c.1324G>C (p.Ala442Pro) | |
2 | g.202542427G= | CA1321550644 | BMPR2 | c.1393G= (p.Ala465=) c.1324G= (p.Ala442=) | |
2 | g.202542427G>T | CA350342998 | BMPR2 | c.1393G>T (p.Ala465Ser) c.1324G>T (p.Ala442Ser) | |
2 | g.202542428C>A | CA350343001 | BMPR2 | c.1394C>A (p.Ala465Asp) c.1325C>A (p.Ala442Asp) | |
2 | g.202542428C>G | CA350343000 | BMPR2 | c.1394C>G (p.Ala465Gly) c.1325C>G (p.Ala442Gly) | gnomAD v4 |
2 | g.202542428C>T | CA350342999 | BMPR2 | c.1394C>T (p.Ala465Val) c.1325C>T (p.Ala442Val) | |
2 | g.202542429C>A | CA430854794 | BMPR2 | c.1395C>A (p.Ala465=) c.1326C>A (p.Ala442=) | |
2 | g.202542429C>G | CA430854796 | BMPR2 | c.1395C>G (p.Ala465=) c.1326C>G (p.Ala442=) | |
2 | g.202542429C>T | CA430854799 | BMPR2 | c.1395C>T (p.Ala465=) c.1326C>T (p.Ala442=) | ClinVar gnomAD v4 |
2 | g.202542430T>A | CA350343002 | BMPR2 | c.1396T>A (p.Trp466Arg) c.1327T>A (p.Trp443Arg) | |
2 | g.202542430T>C | CA350343003 | BMPR2 | c.1396T>C (p.Trp466Arg) c.1327T>C (p.Trp443Arg) | |
2 | g.202542430T>G | CA350343004 | BMPR2 | c.1396T>G (p.Trp466Gly) c.1327T>G (p.Trp443Gly) | |
2 | g.202542431G>A | CA350343005 | BMPR2 | c.1397G>A (p.Trp466Ter) c.1328G>A (p.Trp443Ter) | ClinVar dbSNP |
2 | g.202542431G>C | CA350343006 | BMPR2 | c.1397G>C (p.Trp466Ser) c.1328G>C (p.Trp443Ser) | |
2 | g.202542431G= | CA1321550645 | BMPR2 | c.1397G= (p.Trp466=) c.1328G= (p.Trp443=) | |
2 | g.202542431G>T | CA350343007 | BMPR2 | c.1397G>T (p.Trp466Leu) c.1328G>T (p.Trp443Leu) | |
2 | g.202542432G>A | CA16610567 | BMPR2 | c.1398G>A (p.Trp466Ter) c.1329G>A (p.Trp443Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.202542432G>C | CA350343008 | BMPR2 | c.1398G>C (p.Trp466Cys) c.1329G>C (p.Trp443Cys) | |
2 | g.202542432G= | CA1321550647 | BMPR2 | c.1398G= (p.Trp466=) c.1329G= (p.Trp443=) | |
2 | g.202542432G>T | CA350343009 | BMPR2 | c.1398G>T (p.Trp466Cys) c.1329G>T (p.Trp443Cys) | |
2 | g.202542432_202542433delinsGA | CA1321550646 | BMPR2 | c.1398_1399delinsGA (p.Trp466=) c.1329_1330delinsGA (p.Trp443=) | |
2 | g.202542433A>C | CA350343010 | BMPR2 | c.1399A>C (p.Lys467Gln) c.1330A>C (p.Lys444Gln) | |
2 | g.202542433A>G | CA350343011 | BMPR2 | c.1399A>G (p.Lys467Glu) c.1330A>G (p.Lys444Glu) | |
2 | g.202542433A>T | CA350343012 | BMPR2 | c.1399A>T (p.Lys467Ter) c.1330A>T (p.Lys444Ter) | |
2 | g.202542435del | CA645293851 | BMPR2 | c.1401del (p.Glu468LysfsTer6) c.1332del (p.Glu445LysfsTer6) | ClinVar dbSNP |
2 | g.202542434A>C | CA350343015 | BMPR2 | c.1400A>C (p.Lys467Thr) c.1331A>C (p.Lys444Thr) | |
2 | g.202542434A>G | CA350343014 | BMPR2 | c.1400A>G (p.Lys467Arg) c.1331A>G (p.Lys444Arg) | |
2 | g.202542434A>T | CA350343013 | BMPR2 | c.1400A>T (p.Lys467Ile) c.1331A>T (p.Lys444Ile) | |
2 | g.202542435A>C | CA350343016 | BMPR2 | c.1401A>C (p.Lys467Asn) c.1332A>C (p.Lys444Asn) | |
2 | g.202542435A>G | CA430854838 | BMPR2 | c.1401A>G (p.Lys467=) c.1332A>G (p.Lys444=) | dbSNP gnomAD v4 |
2 | g.202542435A>T | CA350343017 | BMPR2 | c.1401A>T (p.Lys467Asn) c.1332A>T (p.Lys444Asn) | |
2 | g.202542436G>A | CA350343018 | BMPR2 | c.1402G>A (p.Glu468Lys) c.1333G>A (p.Glu445Lys) | COSMIC |
2 | g.202542436G>C | CA350343019 | BMPR2 | c.1402G>C (p.Glu468Gln) c.1333G>C (p.Glu445Gln) | |
2 | g.202542436G= | CA1321550648 | BMPR2 | c.1402G= (p.Glu468=) c.1333G= (p.Glu445=) | |
2 | g.202542436G>T | CA350343020 | BMPR2 | c.1402G>T (p.Glu468Ter) c.1333G>T (p.Glu445Ter) | ClinVar dbSNP |
2 | g.202542437A>C | CA350343021 | BMPR2 | c.1403A>C (p.Glu468Ala) c.1334A>C (p.Glu445Ala) | |
2 | g.202542437A>G | CA350343022 | BMPR2 | c.1403A>G (p.Glu468Gly) c.1334A>G (p.Glu445Gly) | |
2 | g.202542437A>T | CA350343023 | BMPR2 | c.1403A>T (p.Glu468Val) c.1334A>T (p.Glu445Val) | |
2 | g.202542440del | CA2662706455 | BMPR2 | c.1406del (p.Asn469IlefsTer5) c.1337del (p.Asn446IlefsTer5) | gnomAD v4 |
2 | g.202542438A>C | CA350343024 | BMPR2 | c.1404A>C (p.Glu468Asp) c.1335A>C (p.Glu445Asp) | |
2 | g.202542438A>G | CA430854865 | BMPR2 | c.1404A>G (p.Glu468=) c.1335A>G (p.Glu445=) | |
2 | g.202542438A>T | CA350343025 | BMPR2 | c.1404A>T (p.Glu468Asp) c.1335A>T (p.Glu445Asp) | |
2 | g.202542439A>C | CA350343026 | BMPR2 | c.1405A>C (p.Asn469His) c.1336A>C (p.Asn446His) | |
2 | g.202542439A>G | CA350343027 | BMPR2 | c.1405A>G (p.Asn469Asp) c.1336A>G (p.Asn446Asp) | |
2 | g.202542439A>T | CA350343028 | BMPR2 | c.1405A>T (p.Asn469Tyr) c.1336A>T (p.Asn446Tyr) | |
2 | g.202542440A>C | CA350343031 | BMPR2 | c.1406A>C (p.Asn469Thr) c.1337A>C (p.Asn446Thr) | |
2 | g.202542440A>G | CA350343029 | BMPR2 | c.1406A>G (p.Asn469Ser) c.1337A>G (p.Asn446Ser) | |
2 | g.202542440A>T | CA350343030 | BMPR2 | c.1406A>T (p.Asn469Ile) c.1337A>T (p.Asn446Ile) | |
2 | g.202542441T>A | CA350343032 | BMPR2 | c.1407T>A (p.Asn469Lys) c.1338T>A (p.Asn446Lys) | |
2 | g.202542441T>C | CA430854892 | BMPR2 | c.1407T>C (p.Asn469=) c.1338T>C (p.Asn446=) | |
2 | g.202542441T>G | CA350343033 | BMPR2 | c.1407T>G (p.Asn469Lys) c.1338T>G (p.Asn446Lys) | |
2 | g.202542442A>C | CA350343034 | BMPR2 | c.1408A>C (p.Ser470Arg) c.1339A>C (p.Ser447Arg) | |
2 | g.202542442A>G | CA350343035 | BMPR2 | c.1408A>G (p.Ser470Gly) c.1339A>G (p.Ser447Gly) | |
2 | g.202542442A>T | CA350343036 | BMPR2 | c.1408A>T (p.Ser470Cys) c.1339A>T (p.Ser447Cys) | |
2 | g.202542443G>A | CA350343037 | BMPR2 | c.1409G>A (p.Ser470Asn) c.1340G>A (p.Ser447Asn) | gnomAD v4 |
2 | g.202542443G>C | CA350343038 | BMPR2 | c.1409G>C (p.Ser470Thr) c.1340G>C (p.Ser447Thr) | |
2 | g.202542443G>T | CA350343039 | BMPR2 | c.1409G>T (p.Ser470Ile) c.1340G>T (p.Ser447Ile) | |
2 | g.202542444C>A | CA350343040 | BMPR2 | c.1410C>A (p.Ser470Arg) c.1341C>A (p.Ser447Arg) | |
2 | g.202542444C= | CA1321550649 | BMPR2 | c.1410C= (p.Ser470=) c.1341C= (p.Ser447=) | |
2 | g.202542444C>G | CA350343041 | BMPR2 | c.1410C>G (p.Ser470Arg) c.1341C>G (p.Ser447Arg) | |
2 | g.202542444C>T | CA430854919 | BMPR2 | c.1410C>T (p.Ser470=) c.1341C>T (p.Ser447=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202542445C>A | CA350343042 | BMPR2 | c.1411C>A (p.Leu471Met) c.1342C>A (p.Leu448Met) | |
2 | g.202542445C>G | CA350343043 | BMPR2 | c.1411C>G (p.Leu471Val) c.1342C>G (p.Leu448Val) | |
2 | g.202542445C>T | CA430854926 | BMPR2 | c.1411C>T (p.Leu471=) c.1342C>T (p.Leu448=) | |
2 | g.202542446T>A | CA350343045 | BMPR2 | c.1412T>A (p.Leu471Gln) c.1343T>A (p.Leu448Gln) | |
2 | g.202542446T>C | CA350343046 | BMPR2 | c.1412T>C (p.Leu471Pro) c.1343T>C (p.Leu448Pro) | |
2 | g.202542446T>G | CA350343044 | BMPR2 | c.1412T>G (p.Leu471Arg) c.1343T>G (p.Leu448Arg) | |
2 | g.202542447G>A | CA430854935 | BMPR2 | c.1413G>A (p.Leu471=) c.1344G>A (p.Leu448=) | |
2 | g.202542447G>C | CA430854938 | BMPR2 | c.1413G>C (p.Leu471=) c.1344G>C (p.Leu448=) | |
2 | g.202542447G>T | CA430854941 | BMPR2 | c.1413G>T (p.Leu471=) c.1344G>T (p.Leu448=) | |
2 | g.202542448G>A | CA350343048 | BMPR2 | c.1413+1G>A (n.1413+1G>A) c.1344+1G>A (n.1344+1G>A) | ClinVar dbSNP |
2 | g.202542448G>C | CA350343047 | BMPR2 | c.1413+1G>C (n.1413+1G>C) c.1344+1G>C (n.1344+1G>C) | |
2 | g.202542448G= | CA1321550650 | BMPR2 | c.1413+1G= (n.1413+1G=) c.1344+1G= (n.1344+1G=) | |
2 | g.202542448G>T | CA350343049 | BMPR2 | c.1413+1G>T (n.1413+1G>T) c.1344+1G>T (n.1344+1G>T) | |
2 | g.202542449T>A | CA350343050 | BMPR2 | c.1413+2T>A (n.1413+2T>A) c.1344+2T>A (n.1344+2T>A) | |
2 | g.202542449T>C | CA350343052 | BMPR2 | c.1413+2T>C (n.1413+2T>C) c.1344+2T>C (n.1344+2T>C) | |
2 | g.202542449T>G | CA350343051 | BMPR2 | c.1413+2T>G (n.1413+2T>G) c.1344+2T>G (n.1344+2T>G) | |
2 | g.202542450A= | CA1321550651 | BMPR2 | c.1413+3A= (n.1413+3A=) c.1344+3A= (n.1344+3A=) | |
2 | g.202542450A>T | CA645293852 | BMPR2 | c.1413+3A>T (n.1413+3A>T) c.1344+3A>T (n.1344+3A>T) | ClinVar dbSNP |
2 | g.202542453A= | CA1321550652 | BMPR2 | c.1413+6A= (n.1413+6A=) c.1344+6A= (n.1344+6A=) | |
2 | g.202542453A>G | CA538977903 | BMPR2 | c.1413+6A>G (n.1413+6A>G) c.1344+6A>G (n.1344+6A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202542458dup | CA2662706456 | BMPR2 | c.1413+11dup (n.1413+11dup) c.1344+11dup (n.1344+11dup) | gnomAD v4 |
2 | g.202542455A>G | CA2662706457 | BMPR2 | c.1413+8A>G (n.1413+8A>G) c.1344+8A>G (n.1344+8A>G) | gnomAD v4 |
2 | g.202542457A= | CA1321550653 | BMPR2 | c.1413+10A= (n.1413+10A=) c.1344+10A= (n.1344+10A=) | |
2 | g.202542457A>T | CA763443190 | BMPR2 | c.1413+10A>T (n.1413+10A>T) c.1344+10A>T (n.1344+10A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.202542459C>A | CA2841736815 | BMPR2 | c.1413+12C>A (n.1413+12C>A) c.1344+12C>A (n.1344+12C>A) | |
2 | g.202542460T>C | CA2662706458 | BMPR2 | c.1413+13T>C (n.1413+13T>C) c.1344+13T>C (n.1344+13T>C) | gnomAD v4 |
2 | g.202542461A= | CA1321550654 | BMPR2 | c.1413+14A= (n.1413+14A=) c.1344+14A= (n.1344+14A=) | |
2 | g.202542461A>G | CA2061355 | BMPR2 | c.1413+14A>G (n.1413+14A>G) c.1344+14A>G (n.1344+14A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202542461A>T | CA2662706459 | BMPR2 | c.1413+14A>T (n.1413+14A>T) c.1344+14A>T (n.1344+14A>T) | gnomAD v4 |
2 | g.202542462A= | CA1321550655 | BMPR2 | c.1413+15A= (n.1413+15A=) c.1344+15A= (n.1344+15A=) | |
2 | g.202542462A>G | CA538977904 | BMPR2 | c.1413+15A>G (n.1413+15A>G) c.1344+15A>G (n.1344+15A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542463G>A | CA2577215709 | BMPR2 | c.1413+16G>A (n.1413+16G>A) c.1344+16G>A (n.1344+16G>A) | |
2 | g.202542465T>C | CA2662706460 | BMPR2 | c.1413+18T>C (n.1413+18T>C) c.1344+18T>C (n.1344+18T>C) | gnomAD v4 |
2 | g.202542467T>C | CA538977987 | BMPR2 | c.1413+20T>C (n.1413+20T>C) c.1344+20T>C (n.1344+20T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202542467T= | CA1321550656 | BMPR2 | c.1413+20T= (n.1413+20T=) c.1344+20T= (n.1344+20T=) | |
2 | g.202542468T>C | CA2662706461 | BMPR2 | c.1413+21T>C (n.1413+21T>C) c.1344+21T>C (n.1344+21T>C) | gnomAD v4 |
2 | g.202542468_202542472delinsTAAAG | CA1321550657 | BMPR2 | c.1413+21_1413+25delinsTAAAG (n.1413+21_1413+25delinsTAAAG) c.1344+21_1344+25delinsTAAAG (n.1344+21_1344+25delinsTAAAG) | |
2 | g.202542468_202542469insGTTCGTTCTCGCTAAGGTTGATAATCTGGTTAAGAATGGTCGCTTGAGTAAACTGATCGGTACAGTTGTTGGGCTCCTCAATATTCGTATGGTTGGGGAAGCAAGTGAAACGGGAACCTTGGAACTCCTCC | CA2536529596 | BMPR2 | c.1413+21_1413+22insGTTCGTTCTCGCTAAGGTTGATAATCTGGTTAAGAATGGTCGCTTGAGTAAACTGATCGGTACAGTTGTTGGGCTCCTCAATATTCGTATGGTTGGGGAAGCAAGTGAAACGGGAACCTTGGAACTCCTCC (n.1413+21_1413+22insGTTCGTTCTCGCTAAGGTTGATAATCTGGTTAAGAATGGTCGCTTGAGTAAACTGATCGGTACAGTTGTTGGGCTCCTCAATATTCGTATGGTTGGGGAAGCAAGTGAAACGGGAACCTTGGAACTCCTCC) c.1344+21_1344+22insGTTCGTTCTCGCTAAGGTTGATAATCTGGTTAAGAATGGTCGCTTGAGTAAACTGATCGGTACAGTTGTTGGGCTCCTCAATATTCGTATGGTTGGGGAAGCAAGTGAAACGGGAACCTTGGAACTCCTCC (n.1344+21_1344+22insGTTCGTTCTCGCTAAGGTTGATAATCTGGTTAAGAATGGTCGCTTGAGTAAACTGATCGGTACAGTTGTTGGGCTCCTCAATATTCGTATGGTTGGGGAAGCAAGTGAAACGGGAACCTTGGAACTCCTCC) | |
2 | g.202542469A= | CA1321550658 | BMPR2 | c.1413+22A= (n.1413+22A=) c.1344+22A= (n.1344+22A=) | |
2 | g.202542469A>G | CA538977990 | BMPR2 | c.1413+22A>G (n.1413+22A>G) c.1344+22A>G (n.1344+22A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542469A>T | CA64034697 | BMPR2 | c.1413+22A>T (n.1413+22A>T) c.1344+22A>T (n.1344+22A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202542471dup | CA2577215711 | BMPR2 | c.1413+24dup (n.1413+24dup) c.1344+24dup (n.1344+24dup) | |
2 | g.202542470_202542473del | CA538977989 | BMPR2 | c.1413+23_1413+26del (n.1413+23_1413+26del) c.1344+23_1344+26del (n.1344+23_1344+26del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542470A>C | CA2662706462 | BMPR2 | c.1413+23A>C (n.1413+23A>C) c.1344+23A>C (n.1344+23A>C) | gnomAD v4 |
2 | g.202542472G>A | CA2577215713 | BMPR2 | c.1413+25G>A (n.1413+25G>A) c.1344+25G>A (n.1344+25G>A) | |
2 | g.202542473A>G | CA2577215714 | BMPR2 | c.1413+26A>G (n.1413+26A>G) c.1344+26A>G (n.1344+26A>G) | |
2 | g.202542474G>C | CA1321550660 | BMPR2 | c.1413+27G>C (n.1413+27G>C) c.1344+27G>C (n.1344+27G>C) | dbSNP |
2 | g.202542474G= | CA1321550659 | BMPR2 | c.1413+27G= (n.1413+27G=) c.1344+27G= (n.1344+27G=) | |
2 | g.202542475A= | CA1321550661 | BMPR2 | c.1413+28A= (n.1413+28A=) c.1344+28A= (n.1344+28A=) | |
2 | g.202542475A>C | CA1321550662 | BMPR2 | c.1413+28A>C (n.1413+28A>C) c.1344+28A>C (n.1344+28A>C) | dbSNP |
2 | g.202542475A>G | CA647681801 | BMPR2 | c.1413+28A>G (n.1413+28A>G) c.1344+28A>G (n.1344+28A>G) | COSMIC COSMIC |
2 | g.202542476G>C | CA538977992 | BMPR2 | c.1413+29G>C (n.1413+29G>C) c.1344+29G>C (n.1344+29G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542476G= | CA1321550663 | BMPR2 | c.1413+29G= (n.1413+29G=) c.1344+29G= (n.1344+29G=) | |
2 | g.202542477G>C | CA538977993 | BMPR2 | c.1413+30G>C (n.1413+30G>C) c.1344+30G>C (n.1344+30G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202542477G= | CA1321550664 | BMPR2 | c.1413+30G= (n.1413+30G=) c.1344+30G= (n.1344+30G=) | |
2 | g.202542477G>T | CA2662706463 | BMPR2 | c.1413+30G>T (n.1413+30G>T) c.1344+30G>T (n.1344+30G>T) | gnomAD v4 |
2 | g.202542478A>T | CA2577215717 | BMPR2 | c.1413+31A>T (n.1413+31A>T) c.1344+31A>T (n.1344+31A>T) | |
2 | g.202542479del | CA2662706464 | BMPR2 | c.1413+32del (n.1413+32del) c.1344+32del (n.1344+32del) | gnomAD v4 |
2 | g.202542479C= | CA1321550665 | BMPR2 | c.1413+32C= (n.1413+32C=) c.1344+32C= (n.1344+32C=) | |
2 | g.202542479C>T | CA538977994 | BMPR2 | c.1413+32C>T (n.1413+32C>T) c.1344+32C>T (n.1344+32C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542481T>C | CA2662706465 | BMPR2 | c.1413+34T>C (n.1413+34T>C) c.1344+34T>C (n.1344+34T>C) | gnomAD v4 |
2 | g.202542482A>G | CA2577215718 | BMPR2 | c.1413+35A>G (n.1413+35A>G) c.1344+35A>G (n.1344+35A>G) | |
2 | g.202542483T>A | CA2061357 | BMPR2 | c.1413+36T>A (n.1413+36T>A) c.1344+36T>A (n.1344+36T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542483T>C | CA2061356 | BMPR2 | c.1413+36T>C (n.1413+36T>C) c.1344+36T>C (n.1344+36T>C) | dbSNP ExAC gnomAD v2 |
2 | g.202542483T= | CA1321550666 | BMPR2 | c.1413+36T= (n.1413+36T=) c.1344+36T= (n.1344+36T=) | |
2 | g.202542484G>A | CA538977995 | BMPR2 | c.1413+37G>A (n.1413+37G>A) c.1344+37G>A (n.1344+37G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202542484G= | CA1321550667 | BMPR2 | c.1413+37G= (n.1413+37G=) c.1344+37G= (n.1344+37G=) | |
2 | g.202542484G>T | CA2662706466 | BMPR2 | c.1413+37G>T (n.1413+37G>T) c.1344+37G>T (n.1344+37G>T) | gnomAD v4 |
2 | g.202542485A>G | CA2662706467 | BMPR2 | c.1413+38A>G (n.1413+38A>G) c.1344+38A>G (n.1344+38A>G) | gnomAD v4 |
2 | g.202542487T>A | CA538977996 | BMPR2 | c.1413+40T>A (n.1413+40T>A) c.1344+40T>A (n.1344+40T>A) | dbSNP gnomAD v2 |
2 | g.202542487T>C | CA2662706468 | BMPR2 | c.1413+40T>C (n.1413+40T>C) c.1344+40T>C (n.1344+40T>C) | gnomAD v4 |
2 | g.202542487T= | CA1321550668 | BMPR2 | c.1413+40T= (n.1413+40T=) c.1344+40T= (n.1344+40T=) | |
2 | g.202542488G>A | CA2662706469 | BMPR2 | c.1413+41G>A (n.1413+41G>A) c.1344+41G>A (n.1344+41G>A) | gnomAD v4 |
2 | g.202542490A>G | CA2662706470 | BMPR2 | c.1413+43A>G (n.1413+43A>G) c.1344+43A>G (n.1344+43A>G) | gnomAD v4 |
2 | g.202542492A= | CA1321550669 | BMPR2 | c.1413+45A= (n.1413+45A=) c.1344+45A= (n.1344+45A=) | |
2 | g.202542492A>G | CA538977997 | BMPR2 | c.1413+45A>G (n.1413+45A>G) c.1344+45A>G (n.1344+45A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202542492_202542493insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG | CA2567777972 | BMPR2 | c.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG (n.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG) c.1344+45_1344+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG (n.1344+45_1344+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG) | |
2 | g.202542493T>A | CA2061358 | BMPR2 | c.1413+46T>A (n.1413+46T>A) c.1344+46T>A (n.1344+46T>A) | dbSNP ExAC gnomAD v2 |
2 | g.202542493T>C | CA1321550671 | BMPR2 | c.1413+46T>C (n.1413+46T>C) c.1344+46T>C (n.1344+46T>C) | dbSNP gnomAD v4 |
2 | g.202542493T= | CA1321550670 | BMPR2 | c.1413+46T= (n.1413+46T=) c.1344+46T= (n.1344+46T=) | |
2 | g.202542494_202542497del | CA2662706471 | BMPR2 | c.1413+47_1413+50del (n.1413+47_1413+50del) c.1344+47_1344+50del (n.1344+47_1344+50del) | gnomAD v4 |
2 | g.202542494G>A | CA2061359 | BMPR2 | c.1413+47G>A (n.1413+47G>A) c.1344+47G>A (n.1344+47G>A) | dbSNP ExAC gnomAD v2 |
2 | g.202542494G= | CA1321550672 | BMPR2 | c.1413+47G= (n.1413+47G=) c.1344+47G= (n.1344+47G=) | |
2 | g.202542495T>A | CA2061360 | BMPR2 | c.1413+48T>A (n.1413+48T>A) c.1344+48T>A (n.1344+48T>A) | dbSNP ExAC gnomAD v2 |
2 | g.202542495T>C | CA2577215719 | BMPR2 | c.1413+48T>C (n.1413+48T>C) c.1344+48T>C (n.1344+48T>C) | gnomAD v4 |
2 | g.202542495T= | CA1321550673 | BMPR2 | c.1413+48T= (n.1413+48T=) c.1344+48T= (n.1344+48T=) | |
2 | g.202542498del | CA2662706472 | BMPR2 | c.1413+51del (n.1413+51del) c.1344+51del (n.1344+51del) | gnomAD v4 |