Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202532704_202532705dupCA2586971104BMPR2c.1248_1249dup (p.Phe417TyrfsTer3)
c.1179_1180dup (p.Phe394TyrfsTer3)
2g.202532702_202532706delinsATATTCA1321545692BMPR2c.1246_1250delinsATATT (p.Ile416=)
c.1177_1181delinsATATT (p.Ile393=)
2g.202532703T>ACA350341948BMPR2c.1247T>A (p.Ile416Lys)
c.1178T>A (p.Ile393Lys)
2g.202532703T>CCA350341949BMPR2c.1247T>C (p.Ile416Thr)
c.1178T>C (p.Ile393Thr)
2g.202532703T>GCA350341950BMPR2c.1247T>G (p.Ile416Arg)
c.1178T>G (p.Ile393Arg)
2g.202532703_202532704delinsTACA1321545693BMPR2c.1247_1248delinsTA (p.Ile416=)
c.1178_1179delinsTA (p.Ile393=)
2g.202532703_202532706delinsGACA645293828BMPR2c.1247_1250delinsGA (p.Ile416ArgfsTer31)
c.1178_1181delinsGA (p.Ile393ArgfsTer31)
 ClinVar dbSNP
2g.202532706_202532709delCA645293827BMPR2c.1250_1253del (p.Phe417Ter)
c.1181_1184del (p.Phe394Ter)
 ClinVar dbSNP
2g.202532703_202532704insGACA658761122BMPR2c.1247_1248insGA (p.Ile416MetfsTer4)
c.1178_1179insGA (p.Ile393MetfsTer4)
2g.202532704delCA645293829BMPR2c.1248del (p.Phe417LeufsTer2)
c.1179del (p.Phe394LeufsTer2)
 ClinVar dbSNP
2g.202532704A>CCA430849891BMPR2c.1248A>C (p.Ile416=)
c.1179A>C (p.Ile393=)
2g.202532704A>GCA350341951BMPR2c.1248A>G (p.Ile416Met)
c.1179A>G (p.Ile393Met)
2g.202532704A>TCA430849895BMPR2c.1248A>T (p.Ile416=)
c.1179A>T (p.Ile393=)
2g.202532705T>ACA350341953BMPR2c.1249T>A (p.Phe417Ile)
c.1180T>A (p.Phe394Ile)
2g.202532705T>CCA350341954BMPR2c.1249T>C (p.Phe417Leu)
c.1180T>C (p.Phe394Leu)
 gnomAD v4
2g.202532705T>GCA350341952BMPR2c.1249T>G (p.Phe417Val)
c.1180T>G (p.Phe394Val)
2g.202532706T>ACA350341955BMPR2c.1250T>A (p.Phe417Tyr)
c.1181T>A (p.Phe394Tyr)
2g.202532706T>CCA350341956BMPR2c.1250T>C (p.Phe417Ser)
c.1181T>C (p.Phe394Ser)
2g.202532706T>GCA350341957BMPR2c.1250T>G (p.Phe417Cys)
c.1181T>G (p.Phe394Cys)
 ClinVar
2g.202532707T>ACA350341958BMPR2c.1251T>A (p.Phe417Leu)
c.1182T>A (p.Phe394Leu)
2g.202532707T>CCA430849914BMPR2c.1251T>C (p.Phe417=)
c.1182T>C (p.Phe394=)
2g.202532707T>GCA350341959BMPR2c.1251T>G (p.Phe417Leu)
c.1182T>G (p.Phe394Leu)
2g.202532708_202532709delCA645532634BMPR2c.1252_1253del (p.Met418GlufsTer29)
c.1183_1184del (p.Met395GlufsTer29)
 COSMIC
2g.202532708A>CCA350341962BMPR2c.1252A>C (p.Met418Leu)
c.1183A>C (p.Met395Leu)
2g.202532708A>GCA350341960BMPR2c.1252A>G (p.Met418Val)
c.1183A>G (p.Met395Val)
2g.202532708A>TCA350341961BMPR2c.1252A>T (p.Met418Leu)
c.1183A>T (p.Met395Leu)
2g.202532709T>ACA350341963BMPR2c.1253T>A (p.Met418Lys)
c.1184T>A (p.Met395Lys)
2g.202532709T>CCA350341964BMPR2c.1253T>C (p.Met418Thr)
c.1184T>C (p.Met395Thr)
2g.202532709T>GCA350341965BMPR2c.1253T>G (p.Met418Arg)
c.1184T>G (p.Met395Arg)
 gnomAD v4
2g.202532710G>ACA350341966BMPR2c.1254G>A (p.Met418Ile)
c.1185G>A (p.Met395Ile)
2g.202532710G>CCA350341967BMPR2c.1254G>C (p.Met418Ile)
c.1185G>C (p.Met395Ile)
2g.202532710G=CA1321545694BMPR2c.1254G= (p.Met418=)
c.1185G= (p.Met395=)
2g.202532710G>TCA350341968BMPR2c.1254G>T (p.Met418Ile)
c.1185G>T (p.Met395Ile)
2g.202532711A>CCA430849929BMPR2c.1255A>C (p.Arg419=)
c.1186A>C (p.Arg396=)
2g.202532711A>GCA350341970BMPR2c.1255A>G (p.Arg419Gly)
c.1186A>G (p.Arg396Gly)
2g.202532711A>TCA350341969BMPR2c.1255A>T (p.Arg419Ter)
c.1186A>T (p.Arg396Ter)
2g.202532711_202532713dupCA915941651BMPR2c.1255_1257dup (p.Arg419_Cys420insArg)
c.1186_1188dup (p.Arg396_Cys397insArg)
 ClinVar dbSNP
2g.202532712G>ACA350341971BMPR2c.1256G>A (p.Arg419Lys)
c.1187G>A (p.Arg396Lys)
2g.202532712G>CCA350341973BMPR2c.1256G>C (p.Arg419Thr)
c.1187G>C (p.Arg396Thr)
 gnomAD v4
2g.202532712G>TCA350341972BMPR2c.1256G>T (p.Arg419Ile)
c.1187G>T (p.Arg396Ile)
2g.202532713A=CA1321545695BMPR2c.1257A= (p.Arg419=)
c.1188A= (p.Arg396=)
2g.202532713A>CCA350341974BMPR2c.1257A>C (p.Arg419Ser)
c.1188A>C (p.Arg396Ser)
2g.202532713A>GCA430849936BMPR2c.1257A>G (p.Arg419=)
c.1188A>G (p.Arg396=)
2g.202532713A>TCA350341975BMPR2c.1257A>T (p.Arg419Ser)
c.1188A>T (p.Arg396Ser)
 ClinVar dbSNP gnomAD v4
2g.202532714T>ACA350341976BMPR2c.1258T>A (p.Cys420Ser)
c.1189T>A (p.Cys397Ser)
2g.202532714T>CCA350341977BMPR2c.1258T>C (p.Cys420Arg)
c.1189T>C (p.Cys397Arg)
 ClinVar dbSNP
2g.202532714T>GCA350341978BMPR2c.1258T>G (p.Cys420Gly)
c.1189T>G (p.Cys397Gly)
2g.202532714T=CA1321545696BMPR2c.1258T= (p.Cys420=)
c.1189T= (p.Cys397=)
2g.202532715G>ACA350341979BMPR2c.1259G>A (p.Cys420Tyr)
c.1190G>A (p.Cys397Tyr)
 ClinVar dbSNP
2g.202532715G>CCA350341980BMPR2c.1259G>C (p.Cys420Ser)
c.1190G>C (p.Cys397Ser)

Number of alleles fetched