Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202508280_202517537del | CA915941637 | BMPR2 | c.419-5439_622-1285del c.350-5439_553-1285del | ClinVar |
2 | g.202513735del | CA645293799 | BMPR2 | c.435del (p.Phe145LeufsTer7) c.366del (p.Phe122LeufsTer7) | ClinVar dbSNP |
2 | g.202513735T>A | CA350337899 | BMPR2 | c.435T>A (p.Phe145Leu) c.366T>A (p.Phe122Leu) | |
2 | g.202513735T>C | CA430838395 | BMPR2 | c.435T>C (p.Phe145=) c.366T>C (p.Phe122=) | |
2 | g.202513735T>G | CA350337901 | BMPR2 | c.435T>G (p.Phe145Leu) c.366T>G (p.Phe122Leu) | |
2 | g.202513736A>C | CA350337904 | BMPR2 | c.436A>C (p.Asn146His) c.367A>C (p.Asn123His) | |
2 | g.202513736A>G | CA350337910 | BMPR2 | c.436A>G (p.Asn146Asp) c.367A>G (p.Asn123Asp) | |
2 | g.202513736A>T | CA350337907 | BMPR2 | c.436A>T (p.Asn146Tyr) c.367A>T (p.Asn123Tyr) | |
2 | g.202513737A>C | CA350337913 | BMPR2 | c.437A>C (p.Asn146Thr) c.368A>C (p.Asn123Thr) | |
2 | g.202513737A>G | CA350337916 | BMPR2 | c.437A>G (p.Asn146Ser) c.368A>G (p.Asn123Ser) | |
2 | g.202513737A>T | CA350337919 | BMPR2 | c.437A>T (p.Asn146Ile) c.368A>T (p.Asn123Ile) | |
2 | g.202513738C>A | CA350337922 | BMPR2 | c.438C>A (p.Asn146Lys) c.369C>A (p.Asn123Lys) | |
2 | g.202513738C= | CA1321537308 | BMPR2 | c.438C= (p.Asn146=) c.369C= (p.Asn123=) | |
2 | g.202513738C>G | CA350337927 | BMPR2 | c.438C>G (p.Asn146Lys) c.369C>G (p.Asn123Lys) | |
2 | g.202513738C>T | CA2061127 | BMPR2 | c.438C>T (p.Asn146=) c.369C>T (p.Asn123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513739C>A | CA430838396 | BMPR2 | c.439C>A (p.Arg147=) c.370C>A (p.Arg124=) | |
2 | g.202513739C= | CA1321537309 | BMPR2 | c.439C= (p.Arg147=) c.370C= (p.Arg124=) | |
2 | g.202513739C>G | CA350337930 | BMPR2 | c.439C>G (p.Arg147Gly) c.370C>G (p.Arg124Gly) | gnomAD v4 |
2 | g.202513739C>T | CA351778 | BMPR2 | c.439C>T (p.Arg147Ter) c.370C>T (p.Arg124Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.202513740G>A | CA2061128 | BMPR2 | c.440G>A (p.Arg147Gln) c.371G>A (p.Arg124Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.202513740G>C | CA350337936 | BMPR2 | c.440G>C (p.Arg147Pro) c.371G>C (p.Arg124Pro) | gnomAD v4 |
2 | g.202513740G= | CA1321537310 | BMPR2 | c.440G= (p.Arg147=) c.371G= (p.Arg124=) | |
2 | g.202513740G>T | CA350337938 | BMPR2 | c.440G>T (p.Arg147Leu) c.371G>T (p.Arg124Leu) | gnomAD v4 |
2 | g.202513741A= | CA1321537311 | BMPR2 | c.441A= (p.Arg147=) c.372A= (p.Arg124=) | |
2 | g.202513741A>C | CA430838397 | BMPR2 | c.441A>C (p.Arg147=) c.372A>C (p.Arg124=) | |
2 | g.202513741A>G | CA430838398 | BMPR2 | c.441A>G (p.Arg147=) c.372A>G (p.Arg124=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513741A>T | CA430838399 | BMPR2 | c.441A>T (p.Arg147=) c.372A>T (p.Arg124=) | dbSNP gnomAD v4 |
2 | g.202513742G>A | CA350337944 | BMPR2 | c.442G>A (p.Asp148Asn) c.373G>A (p.Asp125Asn) | |
2 | g.202513742G>C | CA350337947 | BMPR2 | c.442G>C (p.Asp148His) c.373G>C (p.Asp125His) | |
2 | g.202513742G>T | CA350337942 | BMPR2 | c.442G>T (p.Asp148Tyr) c.373G>T (p.Asp125Tyr) | |
2 | g.202513742_202513743delinsGA | CA1321537312 | BMPR2 | c.442_443delinsGA (p.Asp148=) c.373_374delinsGA (p.Asp125=) | |
2 | g.202513743del | CA916082274 | BMPR2 | c.443del (p.Asp148ValfsTer4) c.374del (p.Asp125ValfsTer4) | ClinVar dbSNP |
2 | g.202513743A>C | CA350337955 | BMPR2 | c.443A>C (p.Asp148Ala) c.374A>C (p.Asp125Ala) | |
2 | g.202513743A>G | CA350337950 | BMPR2 | c.443A>G (p.Asp148Gly) c.374A>G (p.Asp125Gly) | |
2 | g.202513743A>T | CA350337952 | BMPR2 | c.443A>T (p.Asp148Val) c.374A>T (p.Asp125Val) | |
2 | g.202513744T>A | CA350337958 | BMPR2 | c.444T>A (p.Asp148Glu) c.375T>A (p.Asp125Glu) | |
2 | g.202513744T>C | CA430838400 | BMPR2 | c.444T>C (p.Asp148=) c.375T>C (p.Asp125=) | |
2 | g.202513744T>G | CA350337961 | BMPR2 | c.444T>G (p.Asp148Glu) c.375T>G (p.Asp125Glu) | gnomAD v4 |
2 | g.202513745G>A | CA2061129 | BMPR2 | c.445G>A (p.Glu149Lys) c.376G>A (p.Glu126Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513745G>C | CA350337967 | BMPR2 | c.445G>C (p.Glu149Gln) c.376G>C (p.Glu126Gln) | |
2 | g.202513745G= | CA1321537313 | BMPR2 | c.445G= (p.Glu149=) c.376G= (p.Glu126=) | |
2 | g.202513745G>T | CA350337969 | BMPR2 | c.445G>T (p.Glu149Ter) c.376G>T (p.Glu126Ter) | |
2 | g.202513746A>C | CA350337977 | BMPR2 | c.446A>C (p.Glu149Ala) c.377A>C (p.Glu126Ala) | |
2 | g.202513746A>G | CA350337972 | BMPR2 | c.446A>G (p.Glu149Gly) c.377A>G (p.Glu126Gly) | gnomAD v4 |
2 | g.202513746A>T | CA350337975 | BMPR2 | c.446A>T (p.Glu149Val) c.377A>T (p.Glu126Val) | |
2 | g.202513747G>A | CA430838401 | BMPR2 | c.447G>A (p.Glu149=) c.378G>A (p.Glu126=) | dbSNP |
2 | g.202513747G>C | CA350337981 | BMPR2 | c.447G>C (p.Glu149Asp) c.378G>C (p.Glu126Asp) | |
2 | g.202513747G= | CA1321537314 | BMPR2 | c.447G= (p.Glu149=) c.378G= (p.Glu126=) | |
2 | g.202513747G>T | CA350337983 | BMPR2 | c.447G>T (p.Glu149Asp) c.378G>T (p.Glu126Asp) | |
2 | g.202513748A= | CA1321537315 | BMPR2 | c.448A= (p.Thr150=) c.379A= (p.Thr127=) |