Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202541890_202550241delCA915941652BMPR2c.1277-421_1414-2475del
c.1208-421_1345-2475del
 ClinVar
2g.202542006_202547980delCA915941653BMPR2c.1277-305_1414-4736del
c.1208-305_1345-4736del
 ClinVar
2g.202542022_202547184delCA645293836BMPR2c.1277-289_1413+4737del
c.1208-289_1344+4737del
 ClinVar
2g.202542327_202542334delCA645293841BMPR2c.1293_1300del (p.Glu431AspfsTer14)
c.1224_1231del (p.Glu408AspfsTer14)
 ClinVar dbSNP
2g.202542319_202542343delinsGTACCAGAGTACCAGATGGCTTTTCCA1321550596BMPR2c.1285_1309delinsGTACCAGAGTACCAGATGGCTTTTC (p.Val429=)
c.1216_1240delinsGTACCAGAGTACCAGATGGCTTTTC (p.Val406=)
2g.202542320_202542343delCA1321550597BMPR2c.1286_1309del (p.Val429_Gln437delinsGlu)
c.1217_1240del (p.Val406_Gln414delinsGlu)
 ClinVar dbSNP
2g.202542332A>CCA350342777BMPR2c.1298A>C (p.Gln433Pro)
c.1229A>C (p.Gln410Pro)
2g.202542332A>GCA350342778BMPR2c.1298A>G (p.Gln433Arg)
c.1229A>G (p.Gln410Arg)
2g.202542332A>TCA350342779BMPR2c.1298A>T (p.Gln433Leu)
c.1229A>T (p.Gln410Leu)
2g.202542333G>ACA430854021BMPR2c.1299G>A (p.Gln433=)
c.1230G>A (p.Gln410=)
2g.202542333G>CCA350342781BMPR2c.1299G>C (p.Gln433His)
c.1230G>C (p.Gln410His)
2g.202542333G>TCA350342780BMPR2c.1299G>T (p.Gln433His)
c.1230G>T (p.Gln410His)
2g.202542334A=CA1321550604BMPR2c.1300A= (p.Met434=)
c.1231A= (p.Met411=)
2g.202542334A>CCA350342782BMPR2c.1300A>C (p.Met434Leu)
c.1231A>C (p.Met411Leu)
 dbSNP
2g.202542334A>GCA350342783BMPR2c.1300A>G (p.Met434Val)
c.1231A>G (p.Met411Val)
2g.202542334A>TCA350342784BMPR2c.1300A>T (p.Met434Leu)
c.1231A>T (p.Met411Leu)
2g.202542335T>ACA350342785BMPR2c.1301T>A (p.Met434Lys)
c.1232T>A (p.Met411Lys)
2g.202542335T>CCA2061347BMPR2c.1301T>C (p.Met434Thr)
c.1232T>C (p.Met411Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202542335T>GCA350342786BMPR2c.1301T>G (p.Met434Arg)
c.1232T>G (p.Met411Arg)
2g.202542335T=CA1321550605BMPR2c.1301T= (p.Met434=)
c.1232T= (p.Met411=)
2g.202542336G>ACA2061348BMPR2c.1302G>A (p.Met434Ile)
c.1233G>A (p.Met411Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202542336G>CCA350342788BMPR2c.1302G>C (p.Met434Ile)
c.1233G>C (p.Met411Ile)
2g.202542336G=CA1321550606BMPR2c.1302G= (p.Met434=)
c.1233G= (p.Met411=)
2g.202542336G>TCA350342787BMPR2c.1302G>T (p.Met434Ile)
c.1233G>T (p.Met411Ile)
 gnomAD v4
2g.202542337G>ACA350342789BMPR2c.1303G>A (p.Ala435Thr)
c.1234G>A (p.Ala412Thr)
2g.202542337G>CCA350342790BMPR2c.1303G>C (p.Ala435Pro)
c.1234G>C (p.Ala412Pro)
2g.202542337G>TCA350342791BMPR2c.1303G>T (p.Ala435Ser)
c.1234G>T (p.Ala412Ser)
2g.202542338C>ACA350342792BMPR2c.1304C>A (p.Ala435Asp)
c.1235C>A (p.Ala412Asp)
2g.202542338C>GCA350342793BMPR2c.1304C>G (p.Ala435Gly)
c.1235C>G (p.Ala412Gly)
2g.202542338C>TCA350342794BMPR2c.1304C>T (p.Ala435Val)
c.1235C>T (p.Ala412Val)
2g.202542339T>ACA430854076BMPR2c.1305T>A (p.Ala435=)
c.1236T>A (p.Ala412=)
2g.202542339T>CCA430854079BMPR2c.1305T>C (p.Ala435=)
c.1236T>C (p.Ala412=)
2g.202542339T>GCA430854081BMPR2c.1305T>G (p.Ala435=)
c.1236T>G (p.Ala412=)
2g.202542339_202542341delinsGCA2586971106BMPR2c.1305_1307delinsG (p.Phe436SerfsTer11)
c.1236_1238delinsG (p.Phe413SerfsTer11)
2g.202542340T>ACA350342795BMPR2c.1306T>A (p.Phe436Ile)
c.1237T>A (p.Phe413Ile)
2g.202542340T>CCA350342796BMPR2c.1306T>C (p.Phe436Leu)
c.1237T>C (p.Phe413Leu)
2g.202542340T>GCA350342797BMPR2c.1306T>G (p.Phe436Val)
c.1237T>G (p.Phe413Val)
2g.202542341T>ACA350342798BMPR2c.1307T>A (p.Phe436Tyr)
c.1238T>A (p.Phe413Tyr)
2g.202542341T>CCA350342799BMPR2c.1307T>C (p.Phe436Ser)
c.1238T>C (p.Phe413Ser)
2g.202542341T>GCA350342800BMPR2c.1307T>G (p.Phe436Cys)
c.1238T>G (p.Phe413Cys)
2g.202542342T>ACA350342801BMPR2c.1308T>A (p.Phe436Leu)
c.1239T>A (p.Phe413Leu)
2g.202542342T>CCA430854101BMPR2c.1308T>C (p.Phe436=)
c.1239T>C (p.Phe413=)
2g.202542342T>GCA350342802BMPR2c.1308T>G (p.Phe436Leu)
c.1239T>G (p.Phe413Leu)
2g.202542342_202542346delinsTCAGACA1321550607BMPR2c.1308_1312delinsTCAGA (p.Phe436=)
c.1239_1243delinsTCAGA (p.Phe413=)
2g.202542343C>ACA350342803BMPR2c.1309C>A (p.Gln437Lys)
c.1240C>A (p.Gln414Lys)
2g.202542343C>GCA350342804BMPR2c.1309C>G (p.Gln437Glu)
c.1240C>G (p.Gln414Glu)
2g.202542343C>TCA350342805BMPR2c.1309C>T (p.Gln437Ter)
c.1240C>T (p.Gln414Ter)
2g.202542347_202542350delCA645293843BMPR2c.1313_1316del (p.Thr438ArgfsTer?)
c.1244_1247del (p.Thr415ArgfsTer?)
 ClinVar dbSNP
2g.202542344A>CCA350342806BMPR2c.1310A>C (p.Gln437Pro)
c.1241A>C (p.Gln414Pro)
2g.202542344A>GCA350342807BMPR2c.1310A>G (p.Gln437Arg)
c.1241A>G (p.Gln414Arg)

Number of alleles fetched