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.202542327_202542334del | CA645293841 | BMPR2 | c.1293_1300del (p.Glu431AspfsTer14) c.1224_1231del (p.Glu408AspfsTer14) | ClinVar dbSNP |
2 | g.202542319_202542343delinsGTACCAGAGTACCAGATGGCTTTTC | CA1321550596 | BMPR2 | c.1285_1309delinsGTACCAGAGTACCAGATGGCTTTTC (p.Val429=) c.1216_1240delinsGTACCAGAGTACCAGATGGCTTTTC (p.Val406=) | |
2 | g.202542320_202542343del | CA1321550597 | BMPR2 | c.1286_1309del (p.Val429_Gln437delinsGlu) c.1217_1240del (p.Val406_Gln414delinsGlu) | ClinVar dbSNP |
2 | g.202542334A= | CA1321550604 | BMPR2 | c.1300A= (p.Met434=) c.1231A= (p.Met411=) | |
2 | g.202542334A>C | CA350342782 | BMPR2 | c.1300A>C (p.Met434Leu) c.1231A>C (p.Met411Leu) | dbSNP |
2 | g.202542334A>G | CA350342783 | BMPR2 | c.1300A>G (p.Met434Val) c.1231A>G (p.Met411Val) | |
2 | g.202542334A>T | CA350342784 | BMPR2 | c.1300A>T (p.Met434Leu) c.1231A>T (p.Met411Leu) | |
2 | g.202542335T>A | CA350342785 | BMPR2 | c.1301T>A (p.Met434Lys) c.1232T>A (p.Met411Lys) | |
2 | g.202542335T>C | CA2061347 | BMPR2 | c.1301T>C (p.Met434Thr) c.1232T>C (p.Met411Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202542335T>G | CA350342786 | BMPR2 | c.1301T>G (p.Met434Arg) c.1232T>G (p.Met411Arg) | |
2 | g.202542335T= | CA1321550605 | BMPR2 | c.1301T= (p.Met434=) c.1232T= (p.Met411=) | |
2 | g.202542336G>A | CA2061348 | BMPR2 | c.1302G>A (p.Met434Ile) c.1233G>A (p.Met411Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202542336G>C | CA350342788 | BMPR2 | c.1302G>C (p.Met434Ile) c.1233G>C (p.Met411Ile) | |
2 | g.202542336G= | CA1321550606 | BMPR2 | c.1302G= (p.Met434=) c.1233G= (p.Met411=) | |
2 | g.202542336G>T | CA350342787 | BMPR2 | c.1302G>T (p.Met434Ile) c.1233G>T (p.Met411Ile) | gnomAD v4 |
2 | g.202542337G>A | CA350342789 | BMPR2 | c.1303G>A (p.Ala435Thr) c.1234G>A (p.Ala412Thr) | |
2 | g.202542337G>C | CA350342790 | BMPR2 | c.1303G>C (p.Ala435Pro) c.1234G>C (p.Ala412Pro) | |
2 | g.202542337G>T | CA350342791 | BMPR2 | c.1303G>T (p.Ala435Ser) c.1234G>T (p.Ala412Ser) | |
2 | g.202542338C>A | CA350342792 | BMPR2 | c.1304C>A (p.Ala435Asp) c.1235C>A (p.Ala412Asp) | |
2 | g.202542338C>G | CA350342793 | BMPR2 | c.1304C>G (p.Ala435Gly) c.1235C>G (p.Ala412Gly) | |
2 | g.202542338C>T | CA350342794 | BMPR2 | c.1304C>T (p.Ala435Val) c.1235C>T (p.Ala412Val) | |
2 | g.202542339T>A | CA430854076 | BMPR2 | c.1305T>A (p.Ala435=) c.1236T>A (p.Ala412=) | |
2 | g.202542339T>C | CA430854079 | BMPR2 | c.1305T>C (p.Ala435=) c.1236T>C (p.Ala412=) | |
2 | g.202542339T>G | CA430854081 | BMPR2 | c.1305T>G (p.Ala435=) c.1236T>G (p.Ala412=) | |
2 | g.202542339_202542341delinsG | CA2586971106 | BMPR2 | c.1305_1307delinsG (p.Phe436SerfsTer11) c.1236_1238delinsG (p.Phe413SerfsTer11) | |
2 | g.202542340T>A | CA350342795 | BMPR2 | c.1306T>A (p.Phe436Ile) c.1237T>A (p.Phe413Ile) | |
2 | g.202542340T>C | CA350342796 | BMPR2 | c.1306T>C (p.Phe436Leu) c.1237T>C (p.Phe413Leu) | |
2 | g.202542340T>G | CA350342797 | BMPR2 | c.1306T>G (p.Phe436Val) c.1237T>G (p.Phe413Val) | |
2 | g.202542341T>A | CA350342798 | BMPR2 | c.1307T>A (p.Phe436Tyr) c.1238T>A (p.Phe413Tyr) | |
2 | g.202542341T>C | CA350342799 | BMPR2 | c.1307T>C (p.Phe436Ser) c.1238T>C (p.Phe413Ser) | |
2 | g.202542341T>G | CA350342800 | BMPR2 | c.1307T>G (p.Phe436Cys) c.1238T>G (p.Phe413Cys) | |
2 | g.202542342T>A | CA350342801 | BMPR2 | c.1308T>A (p.Phe436Leu) c.1239T>A (p.Phe413Leu) | |
2 | g.202542342T>C | CA430854101 | BMPR2 | c.1308T>C (p.Phe436=) c.1239T>C (p.Phe413=) | |
2 | g.202542342T>G | CA350342802 | BMPR2 | c.1308T>G (p.Phe436Leu) c.1239T>G (p.Phe413Leu) | |
2 | g.202542342_202542346delinsTCAGA | CA1321550607 | BMPR2 | c.1308_1312delinsTCAGA (p.Phe436=) c.1239_1243delinsTCAGA (p.Phe413=) | |
2 | g.202542343C>A | CA350342803 | BMPR2 | c.1309C>A (p.Gln437Lys) c.1240C>A (p.Gln414Lys) | |
2 | g.202542343C>G | CA350342804 | BMPR2 | c.1309C>G (p.Gln437Glu) c.1240C>G (p.Gln414Glu) | |
2 | g.202542343C>T | CA350342805 | BMPR2 | c.1309C>T (p.Gln437Ter) c.1240C>T (p.Gln414Ter) | |
2 | g.202542347_202542350del | CA645293843 | BMPR2 | c.1313_1316del (p.Thr438ArgfsTer?) c.1244_1247del (p.Thr415ArgfsTer?) | ClinVar dbSNP |
2 | g.202542344A>C | CA350342806 | BMPR2 | c.1310A>C (p.Gln437Pro) c.1241A>C (p.Gln414Pro) | |
2 | g.202542344A>G | CA350342807 | BMPR2 | c.1310A>G (p.Gln437Arg) c.1241A>G (p.Gln414Arg) | |
2 | g.202542344A>T | CA350342808 | BMPR2 | c.1310A>T (p.Gln437Leu) c.1241A>T (p.Gln414Leu) | |
2 | g.202542345G>A | CA430854130 | BMPR2 | c.1311G>A (p.Gln437=) c.1242G>A (p.Gln414=) | COSMIC |
2 | g.202542345G>C | CA350342809 | BMPR2 | c.1311G>C (p.Gln437His) c.1242G>C (p.Gln414His) | |
2 | g.202542345G>T | CA350342810 | BMPR2 | c.1311G>T (p.Gln437His) c.1242G>T (p.Gln414His) | |
2 | g.202542346A>C | CA350342811 | BMPR2 | c.1312A>C (p.Thr438Pro) c.1243A>C (p.Thr415Pro) | |
2 | g.202542346A>G | CA350342812 | BMPR2 | c.1312A>G (p.Thr438Ala) c.1243A>G (p.Thr415Ala) | |
2 | g.202542346A>T | CA350342813 | BMPR2 | c.1312A>T (p.Thr438Ser) c.1243A>T (p.Thr415Ser) | |
2 | g.202542347C>A | CA350342814 | BMPR2 | c.1313C>A (p.Thr438Lys) c.1244C>A (p.Thr415Lys) | |
2 | g.202542347C>G | CA350342815 | BMPR2 | c.1313C>G (p.Thr438Arg) c.1244C>G (p.Thr415Arg) | |
2 | g.202542347C>T | CA350342816 | BMPR2 | c.1313C>T (p.Thr438Ile) c.1244C>T (p.Thr415Ile) | |
2 | g.202542348A>C | CA430854157 | BMPR2 | c.1314A>C (p.Thr438=) c.1245A>C (p.Thr415=) | |
2 | g.202542348A>G | CA430854160 | BMPR2 | c.1314A>G (p.Thr438=) c.1245A>G (p.Thr415=) | gnomAD v4 |
2 | g.202542348A>T | CA430854161 | BMPR2 | c.1314A>T (p.Thr438=) c.1245A>T (p.Thr415=) | |
2 | g.202542350_202542351del | CA645532636 | BMPR2 | c.1316_1317del (p.Glu439GlyfsTer8) c.1247_1248del (p.Glu416GlyfsTer8) | ClinVar COSMIC |
2 | g.202542349G>A | CA2061349 | BMPR2 | c.1315G>A (p.Glu439Lys) c.1246G>A (p.Glu416Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542349G>C | CA350342818 | BMPR2 | c.1315G>C (p.Glu439Gln) c.1246G>C (p.Glu416Gln) | |
2 | g.202542349G= | CA1321550608 | BMPR2 | c.1315G= (p.Glu439=) c.1246G= (p.Glu416=) | |
2 | g.202542349G>T | CA350342817 | BMPR2 | c.1315G>T (p.Glu439Ter) c.1246G>T (p.Glu416Ter) | |
2 | g.202542350A= | CA1321550609 | BMPR2 | c.1316A= (p.Glu439=) c.1247A= (p.Glu416=) | |
2 | g.202542350A>C | CA350342819 | BMPR2 | c.1316A>C (p.Glu439Ala) c.1247A>C (p.Glu416Ala) | |
2 | g.202542350A>G | CA350342820 | BMPR2 | c.1316A>G (p.Glu439Gly) c.1247A>G (p.Glu416Gly) | |
2 | g.202542350A>T | CA350342821 | BMPR2 | c.1316A>T (p.Glu439Val) c.1247A>T (p.Glu416Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542351G>A | CA2061350 | BMPR2 | c.1317G>A (p.Glu439=) c.1248G>A (p.Glu416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542351G>C | CA350342822 | BMPR2 | c.1317G>C (p.Glu439Asp) c.1248G>C (p.Glu416Asp) | |
2 | g.202542351G= | CA1321550610 | BMPR2 | c.1317G= (p.Glu439=) c.1248G= (p.Glu416=) | |
2 | g.202542351G>T | CA350342823 | BMPR2 | c.1317G>T (p.Glu439Asp) c.1248G>T (p.Glu416Asp) | dbSNP |
2 | g.202542352G>A | CA64034672 | BMPR2 | c.1318G>A (p.Val440Ile) c.1249G>A (p.Val417Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202542352G>C | CA350342824 | BMPR2 | c.1318G>C (p.Val440Leu) c.1249G>C (p.Val417Leu) | |
2 | g.202542352G= | CA1321550611 | BMPR2 | c.1318G= (p.Val440=) c.1249G= (p.Val417=) | |
2 | g.202542352G>T | CA350342825 | BMPR2 | c.1318G>T (p.Val440Phe) c.1249G>T (p.Val417Phe) | |
2 | g.202542353T>A | CA350342826 | BMPR2 | c.1319T>A (p.Val440Asp) c.1250T>A (p.Val417Asp) | |
2 | g.202542353T>C | CA350342827 | BMPR2 | c.1319T>C (p.Val440Ala) c.1250T>C (p.Val417Ala) | |
2 | g.202542353T>G | CA350342828 | BMPR2 | c.1319T>G (p.Val440Gly) c.1250T>G (p.Val417Gly) | |
2 | g.202542354T>A | CA430854189 | BMPR2 | c.1320T>A (p.Val440=) c.1251T>A (p.Val417=) | |
2 | g.202542354T>C | CA430854188 | BMPR2 | c.1320T>C (p.Val440=) c.1251T>C (p.Val417=) | |
2 | g.202542354T>G | CA430854186 | BMPR2 | c.1320T>G (p.Val440=) c.1251T>G (p.Val417=) | |
2 | g.202542355G>A | CA350342829 | BMPR2 | c.1321G>A (p.Gly441Arg) c.1252G>A (p.Gly418Arg) | |
2 | g.202542355G>C | CA350342830 | BMPR2 | c.1321G>C (p.Gly441Arg) c.1252G>C (p.Gly418Arg) | |
2 | g.202542355G>T | CA350342831 | BMPR2 | c.1321G>T (p.Gly441Ter) c.1252G>T (p.Gly418Ter) | |
2 | g.202542356G>A | CA350342833 | BMPR2 | c.1322G>A (p.Gly441Glu) c.1253G>A (p.Gly418Glu) | |
2 | g.202542356G>C | CA350342834 | BMPR2 | c.1322G>C (p.Gly441Ala) c.1253G>C (p.Gly418Ala) | |
2 | g.202542356G>T | CA350342832 | BMPR2 | c.1322G>T (p.Gly441Val) c.1253G>T (p.Gly418Val) | |
2 | g.202542357A>C | CA430854207 | BMPR2 | c.1323A>C (p.Gly441=) c.1254A>C (p.Gly418=) | |
2 | g.202542357A>G | CA430854209 | BMPR2 | c.1323A>G (p.Gly441=) c.1254A>G (p.Gly418=) | |
2 | g.202542357A>T | CA430854212 | BMPR2 | c.1323A>T (p.Gly441=) c.1254A>T (p.Gly418=) | |
2 | g.202542359del | CA430854217 | BMPR2 | c.1325del (p.Asn442ThrfsTer?) c.1256del (p.Asn419ThrfsTer?) | COSMIC |
2 | g.202542358A= | CA1321550612 | BMPR2 | c.1324A= (p.Asn442=) c.1255A= (p.Asn419=) | |
2 | g.202542358A>C | CA64034675 | BMPR2 | c.1324A>C (p.Asn442His) c.1255A>C (p.Asn419His) | dbSNP |
2 | g.202542358A>G | CA350342835 | BMPR2 | c.1324A>G (p.Asn442Asp) c.1255A>G (p.Asn419Asp) | |
2 | g.202542358A>T | CA350342836 | BMPR2 | c.1324A>T (p.Asn442Tyr) c.1255A>T (p.Asn419Tyr) | |
2 | g.202542359A>C | CA350342837 | BMPR2 | c.1325A>C (p.Asn442Thr) c.1256A>C (p.Asn419Thr) | |
2 | g.202542359A>G | CA350342838 | BMPR2 | c.1325A>G (p.Asn442Ser) c.1256A>G (p.Asn419Ser) | dbSNP gnomAD v4 |
2 | g.202542359A>T | CA350342839 | BMPR2 | c.1325A>T (p.Asn442Ile) c.1256A>T (p.Asn419Ile) | gnomAD v4 |
2 | g.202542360C>A | CA350342840 | BMPR2 | c.1326C>A (p.Asn442Lys) c.1257C>A (p.Asn419Lys) | |
2 | g.202542360C>G | CA350342841 | BMPR2 | c.1326C>G (p.Asn442Lys) c.1257C>G (p.Asn419Lys) | |
2 | g.202542360C>T | CA430854243 | BMPR2 | c.1326C>T (p.Asn442=) c.1257C>T (p.Asn419=) | |
2 | g.202542361C>A | CA350342842 | BMPR2 | c.1327C>A (p.His443Asn) c.1258C>A (p.His420Asn) | |
2 | g.202542361C>G | CA350342843 | BMPR2 | c.1327C>G (p.His443Asp) c.1258C>G (p.His420Asp) | |
2 | g.202542361C>T | CA350342844 | BMPR2 | c.1327C>T (p.His443Tyr) c.1258C>T (p.His420Tyr) | |
2 | g.202542362A>C | CA350342845 | BMPR2 | c.1328A>C (p.His443Pro) c.1259A>C (p.His420Pro) | |
2 | g.202542362A>G | CA350342846 | BMPR2 | c.1328A>G (p.His443Arg) c.1259A>G (p.His420Arg) | gnomAD v4 |
2 | g.202542362A>T | CA350342847 | BMPR2 | c.1328A>T (p.His443Leu) c.1259A>T (p.His420Leu) | |
2 | g.202542363T>A | CA350342848 | BMPR2 | c.1329T>A (p.His443Gln) c.1260T>A (p.His420Gln) | |
2 | g.202542363T>C | CA430854267 | BMPR2 | c.1329T>C (p.His443=) c.1260T>C (p.His420=) | |
2 | g.202542363T>G | CA350342849 | BMPR2 | c.1329T>G (p.His443Gln) c.1260T>G (p.His420Gln) | |
2 | g.202542364C>A | CA350342850 | BMPR2 | c.1330C>A (p.Pro444Thr) c.1261C>A (p.Pro421Thr) | |
2 | g.202542364C>G | CA350342851 | BMPR2 | c.1330C>G (p.Pro444Ala) c.1261C>G (p.Pro421Ala) | |
2 | g.202542364C>T | CA350342852 | BMPR2 | c.1330C>T (p.Pro444Ser) c.1261C>T (p.Pro421Ser) | COSMIC |
2 | g.202542366dup | CA2573134356 | BMPR2 | c.1332dup (p.Thr445HisfsTer3) c.1263dup (p.Thr422HisfsTer3) | ClinVar dbSNP |
2 | g.202542365C>A | CA350342853 | BMPR2 | c.1331C>A (p.Pro444His) c.1262C>A (p.Pro421His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202542365C= | CA1321550613 | BMPR2 | c.1331C= (p.Pro444=) c.1262C= (p.Pro421=) | |
2 | g.202542365C>G | CA350342854 | BMPR2 | c.1331C>G (p.Pro444Arg) c.1262C>G (p.Pro421Arg) | |
2 | g.202542365C>T | CA350342855 | BMPR2 | c.1331C>T (p.Pro444Leu) c.1262C>T (p.Pro421Leu) | |
2 | g.202542366C>A | CA430854286 | BMPR2 | c.1332C>A (p.Pro444=) c.1263C>A (p.Pro421=) | |
2 | g.202542366C>G | CA430854289 | BMPR2 | c.1332C>G (p.Pro444=) c.1263C>G (p.Pro421=) | |
2 | g.202542366C>T | CA430854293 | BMPR2 | c.1332C>T (p.Pro444=) c.1263C>T (p.Pro421=) | gnomAD v4 |
2 | g.202542367A>C | CA350342856 | BMPR2 | c.1333A>C (p.Thr445Pro) c.1264A>C (p.Thr422Pro) | |
2 | g.202542367A>G | CA350342857 | BMPR2 | c.1333A>G (p.Thr445Ala) c.1264A>G (p.Thr422Ala) | |
2 | g.202542367A>T | CA350342858 | BMPR2 | c.1333A>T (p.Thr445Ser) c.1264A>T (p.Thr422Ser) | gnomAD v4 |
2 | g.202542368C>A | CA350342859 | BMPR2 | c.1334C>A (p.Thr445Asn) c.1265C>A (p.Thr422Asn) | |
2 | g.202542368C>G | CA350342860 | BMPR2 | c.1334C>G (p.Thr445Ser) c.1265C>G (p.Thr422Ser) | |
2 | g.202542368C>T | CA350342861 | BMPR2 | c.1334C>T (p.Thr445Ile) c.1265C>T (p.Thr422Ile) | |
2 | g.202542369T>A | CA430854315 | BMPR2 | c.1335T>A (p.Thr445=) c.1266T>A (p.Thr422=) | |
2 | g.202542369T>C | CA430854316 | BMPR2 | c.1335T>C (p.Thr445=) c.1266T>C (p.Thr422=) | |
2 | g.202542369T>G | CA430854312 | BMPR2 | c.1335T>G (p.Thr445=) c.1266T>G (p.Thr422=) | |
2 | g.202542370T>A | CA350342862 | BMPR2 | c.1336T>A (p.Phe446Ile) c.1267T>A (p.Phe423Ile) | |
2 | g.202542370T>C | CA350342864 | BMPR2 | c.1336T>C (p.Phe446Leu) c.1267T>C (p.Phe423Leu) | |
2 | g.202542370T>G | CA350342863 | BMPR2 | c.1336T>G (p.Phe446Val) c.1267T>G (p.Phe423Val) | |
2 | g.202542371T>A | CA350342865 | BMPR2 | c.1337T>A (p.Phe446Tyr) c.1268T>A (p.Phe423Tyr) | |
2 | g.202542371T>C | CA350342866 | BMPR2 | c.1337T>C (p.Phe446Ser) c.1268T>C (p.Phe423Ser) | |
2 | g.202542371T>G | CA350342867 | BMPR2 | c.1337T>G (p.Phe446Cys) c.1268T>G (p.Phe423Cys) | |
2 | g.202542372T>A | CA350342868 | BMPR2 | c.1338T>A (p.Phe446Leu) c.1269T>A (p.Phe423Leu) | |
2 | g.202542372T>C | CA430854336 | BMPR2 | c.1338T>C (p.Phe446=) c.1269T>C (p.Phe423=) | |
2 | g.202542372T>G | CA350342869 | BMPR2 | c.1338T>G (p.Phe446Leu) c.1269T>G (p.Phe423Leu) | |
2 | g.202542373G>A | CA350342870 | BMPR2 | c.1339G>A (p.Glu447Lys) c.1270G>A (p.Glu424Lys) | gnomAD v4 |
2 | g.202542373G>C | CA350342871 | BMPR2 | c.1339G>C (p.Glu447Gln) c.1270G>C (p.Glu424Gln) | |
2 | g.202542373G>T | CA350342872 | BMPR2 | c.1339G>T (p.Glu447Ter) c.1270G>T (p.Glu424Ter) | |
2 | g.202542374A>C | CA350342873 | BMPR2 | c.1340A>C (p.Glu447Ala) c.1271A>C (p.Glu424Ala) | |
2 | g.202542374A>G | CA350342874 | BMPR2 | c.1340A>G (p.Glu447Gly) c.1271A>G (p.Glu424Gly) | |
2 | g.202542374A>T | CA350342875 | BMPR2 | c.1340A>T (p.Glu447Val) c.1271A>T (p.Glu424Val) | |
2 | g.202542374_202542375delinsAG | CA1321550614 | BMPR2 | c.1340_1341delinsAG (p.Glu447=) c.1271_1272delinsAG (p.Glu424=) | |
2 | g.202542375G>A | CA430854352 | BMPR2 | c.1341G>A (p.Glu447=) c.1272G>A (p.Glu424=) | |
2 | g.202542375G>C | CA350342876 | BMPR2 | c.1341G>C (p.Glu447Asp) c.1272G>C (p.Glu424Asp) | |
2 | g.202542375G>T | CA350342877 | BMPR2 | c.1341G>T (p.Glu447Asp) c.1272G>T (p.Glu424Asp) | |
2 | g.202542376del | CA913189655 | BMPR2 | c.1342del (p.Asp448IlefsTer26) c.1273del (p.Asp425IlefsTer26) | ClinVar dbSNP |
2 | g.202542376G>A | CA350342880 | BMPR2 | c.1342G>A (p.Asp448Asn) c.1273G>A (p.Asp425Asn) | |
2 | g.202542376G>C | CA350342879 | BMPR2 | c.1342G>C (p.Asp448His) c.1273G>C (p.Asp425His) | |
2 | g.202542376G>T | CA350342878 | BMPR2 | c.1342G>T (p.Asp448Tyr) c.1273G>T (p.Asp425Tyr) | |
2 | g.202542377A>C | CA350342881 | BMPR2 | c.1343A>C (p.Asp448Ala) c.1274A>C (p.Asp425Ala) | |
2 | g.202542377A>G | CA350342882 | BMPR2 | c.1343A>G (p.Asp448Gly) c.1274A>G (p.Asp425Gly) | dbSNP |
2 | g.202542377A>T | CA350342883 | BMPR2 | c.1343A>T (p.Asp448Val) c.1274A>T (p.Asp425Val) | |
2 | g.202542378T>A | CA350342884 | BMPR2 | c.1344T>A (p.Asp448Glu) c.1275T>A (p.Asp425Glu) | |
2 | g.202542378T>C | CA430854369 | BMPR2 | c.1344T>C (p.Asp448=) c.1275T>C (p.Asp425=) | ClinVar |
2 | g.202542378T>G | CA350342885 | BMPR2 | c.1344T>G (p.Asp448Glu) c.1275T>G (p.Asp425Glu) | |
2 | g.202542379A= | CA1321550615 | BMPR2 | c.1345A= (p.Met449=) c.1276A= (p.Met426=) | |
2 | g.202542379A>C | CA350342886 | BMPR2 | c.1345A>C (p.Met449Leu) c.1276A>C (p.Met426Leu) | |
2 | g.202542379A>G | CA350342887 | BMPR2 | c.1345A>G (p.Met449Val) c.1276A>G (p.Met426Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202542379A>T | CA350342888 | BMPR2 | c.1345A>T (p.Met449Leu) c.1276A>T (p.Met426Leu) | |
2 | g.202542380T>A | CA350342889 | BMPR2 | c.1346T>A (p.Met449Lys) c.1277T>A (p.Met426Lys) | |
2 | g.202542380T>C | CA350342890 | BMPR2 | c.1346T>C (p.Met449Thr) c.1277T>C (p.Met426Thr) | |
2 | g.202542380T>G | CA350342891 | BMPR2 | c.1346T>G (p.Met449Arg) c.1277T>G (p.Met426Arg) | ClinVar dbSNP |
2 | g.202542380T= | CA1321550616 | BMPR2 | c.1346T= (p.Met449=) c.1277T= (p.Met426=) | |
2 | g.202542381G>A | CA350342892 | BMPR2 | c.1347G>A (p.Met449Ile) c.1278G>A (p.Met426Ile) | |
2 | g.202542381G>C | CA350342893 | BMPR2 | c.1347G>C (p.Met449Ile) c.1278G>C (p.Met426Ile) | |
2 | g.202542381G>T | CA350342894 | BMPR2 | c.1347G>T (p.Met449Ile) c.1278G>T (p.Met426Ile) | |
2 | g.202542382C>A | CA350342895 | BMPR2 | c.1348C>A (p.Gln450Lys) c.1279C>A (p.Gln427Lys) | |
2 | g.202542382C= | CA1321550617 | BMPR2 | c.1348C= (p.Gln450=) c.1279C= (p.Gln427=) | |
2 | g.202542382C>G | CA350342896 | BMPR2 | c.1348C>G (p.Gln450Glu) c.1279C>G (p.Gln427Glu) | |
2 | g.202542382C>T | CA64034679 | BMPR2 | c.1348C>T (p.Gln450Ter) c.1279C>T (p.Gln427Ter) | ClinVar dbSNP COSMIC |
2 | g.202542383A>C | CA350342897 | BMPR2 | c.1349A>C (p.Gln450Pro) c.1280A>C (p.Gln427Pro) | |
2 | g.202542383A>G | CA350342898 | BMPR2 | c.1349A>G (p.Gln450Arg) c.1280A>G (p.Gln427Arg) | |
2 | g.202542383A>T | CA350342899 | BMPR2 | c.1349A>T (p.Gln450Leu) c.1280A>T (p.Gln427Leu) | gnomAD v4 |
2 | g.202542384G>A | CA430854446 | BMPR2 | c.1350G>A (p.Gln450=) c.1281G>A (p.Gln427=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202542384G>C | CA350342900 | BMPR2 | c.1350G>C (p.Gln450His) c.1281G>C (p.Gln427His) | |
2 | g.202542384G= | CA1321550618 | BMPR2 | c.1350G= (p.Gln450=) c.1281G= (p.Gln427=) | |
2 | g.202542384G>T | CA350342901 | BMPR2 | c.1350G>T (p.Gln450His) c.1281G>T (p.Gln427His) | |
2 | g.202542385G>A | CA350342902 | BMPR2 | c.1351G>A (p.Val451Ile) c.1282G>A (p.Val428Ile) | |
2 | g.202542385G>C | CA350342903 | BMPR2 | c.1351G>C (p.Val451Leu) c.1282G>C (p.Val428Leu) | |
2 | g.202542385G= | CA1321550619 | BMPR2 | c.1351G= (p.Val451=) c.1282G= (p.Val428=) | |
2 | g.202542385G>T | CA2061351 | BMPR2 | c.1351G>T (p.Val451Phe) c.1282G>T (p.Val428Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542386T>A | CA350342904 | BMPR2 | c.1352T>A (p.Val451Asp) c.1283T>A (p.Val428Asp) | |
2 | g.202542386T>C | CA2061352 | BMPR2 | c.1352T>C (p.Val451Ala) c.1283T>C (p.Val428Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542386T>G | CA350342905 | BMPR2 | c.1352T>G (p.Val451Gly) c.1283T>G (p.Val428Gly) | |
2 | g.202542386T= | CA1321550620 | BMPR2 | c.1352T= (p.Val451=) c.1283T= (p.Val428=) | |
2 | g.202542387T>A | CA430854473 | BMPR2 | c.1353T>A (p.Val451=) c.1284T>A (p.Val428=) | |
2 | g.202542387T>C | CA430854479 | BMPR2 | c.1353T>C (p.Val451=) c.1284T>C (p.Val428=) | |
2 | g.202542387T>G | CA430854482 | BMPR2 | c.1353T>G (p.Val451=) c.1284T>G (p.Val428=) | |
2 | g.202542389_202542390dup | CA915941654 | BMPR2 | c.1355_1356dup (p.Val453SerfsTer22) c.1286_1287dup (p.Val430SerfsTer22) | ClinVar dbSNP |
2 | g.202542388C>A | CA350342908 | BMPR2 | c.1354C>A (p.Leu452Ile) c.1285C>A (p.Leu429Ile) | |
2 | g.202542388C= | CA1321550621 | BMPR2 | c.1354C= (p.Leu452=) c.1285C= (p.Leu429=) | |
2 | g.202542388C>G | CA350342907 | BMPR2 | c.1354C>G (p.Leu452Val) c.1285C>G (p.Leu429Val) | |
2 | g.202542388C>T | CA350342906 | BMPR2 | c.1354C>T (p.Leu452Phe) c.1285C>T (p.Leu429Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202542389T>A | CA2061353 | BMPR2 | c.1355T>A (p.Leu452His) c.1286T>A (p.Leu429His) | dbSNP ExAC |
2 | g.202542389T>C | CA350342909 | BMPR2 | c.1355T>C (p.Leu452Pro) c.1286T>C (p.Leu429Pro) | |
2 | g.202542389T>G | CA350342910 | BMPR2 | c.1355T>G (p.Leu452Arg) c.1286T>G (p.Leu429Arg) | |
2 | g.202542389T= | CA1321550622 | BMPR2 | c.1355T= (p.Leu452=) c.1286T= (p.Leu429=) | |
2 | g.202542390C>A | CA430854504 | BMPR2 | c.1356C>A (p.Leu452=) c.1287C>A (p.Leu429=) | |
2 | g.202542390C= | CA1321550623 | BMPR2 | c.1356C= (p.Leu452=) c.1287C= (p.Leu429=) | |
2 | g.202542390C>G | CA430854502 | BMPR2 | c.1356C>G (p.Leu452=) c.1287C>G (p.Leu429=) | |
2 | g.202542390C>T | CA430854498 | BMPR2 | c.1356C>T (p.Leu452=) c.1287C>T (p.Leu429=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202542391G>A | CA350342911 | BMPR2 | c.1357G>A (p.Val453Met) c.1288G>A (p.Val430Met) | |
2 | g.202542391G>C | CA350342912 | BMPR2 | c.1357G>C (p.Val453Leu) c.1288G>C (p.Val430Leu) | |
2 | g.202542391G>T | CA350342913 | BMPR2 | c.1357G>T (p.Val453Leu) c.1288G>T (p.Val430Leu) | COSMIC |
2 | g.202542392T>A | CA350342914 | BMPR2 | c.1358T>A (p.Val453Glu) c.1289T>A (p.Val430Glu) | |
2 | g.202542392T>C | CA350342915 | BMPR2 | c.1358T>C (p.Val453Ala) c.1289T>C (p.Val430Ala) | |
2 | g.202542392T>G | CA350342916 | BMPR2 | c.1358T>G (p.Val453Gly) c.1289T>G (p.Val430Gly) | |
2 | g.202542393G>A | CA430854526 | BMPR2 | c.1359G>A (p.Val453=) c.1290G>A (p.Val430=) | |
2 | g.202542393G>C | CA430854529 | BMPR2 | c.1359G>C (p.Val453=) c.1290G>C (p.Val430=) | |
2 | g.202542393G>T | CA430854534 | BMPR2 | c.1359G>T (p.Val453=) c.1290G>T (p.Val430=) | |
2 | g.202542394T>A | CA350342917 | BMPR2 | c.1360T>A (p.Ser454Thr) c.1291T>A (p.Ser431Thr) | |
2 | g.202542394T>C | CA350342918 | BMPR2 | c.1360T>C (p.Ser454Pro) c.1291T>C (p.Ser431Pro) | |
2 | g.202542394T>G | CA350342919 | BMPR2 | c.1360T>G (p.Ser454Ala) c.1291T>G (p.Ser431Ala) | dbSNP gnomAD v4 |
2 | g.202542394T= | CA1321550624 | BMPR2 | c.1360T= (p.Ser454=) c.1291T= (p.Ser431=) | |
2 | g.202542395C>A | CA350342920 | BMPR2 | c.1361C>A (p.Ser454Tyr) c.1292C>A (p.Ser431Tyr) | |
2 | g.202542395C= | CA1321550625 | BMPR2 | c.1361C= (p.Ser454=) c.1292C= (p.Ser431=) | |
2 | g.202542395C>G | CA350342922 | BMPR2 | c.1361C>G (p.Ser454Cys) c.1292C>G (p.Ser431Cys) | |
2 | g.202542395C>T | CA350342921 | BMPR2 | c.1361C>T (p.Ser454Phe) c.1292C>T (p.Ser431Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
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) |