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.202513709T>C | CA645293797 | BMPR2 | c.419-10T>C (n.419-10T>C) c.350-10T>C (n.350-10T>C) | ClinVar dbSNP |
2 | g.202513709T= | CA1321537294 | BMPR2 | c.419-10T= (n.419-10T=) c.350-10T= (n.350-10T=) | |
2 | g.202513711T>A | CA2662705370 | BMPR2 | c.419-8T>A (n.419-8T>A) c.350-8T>A (n.350-8T>A) | gnomAD v4 |
2 | g.202513712C>A | CA2061125 | BMPR2 | c.419-7C>A (n.419-7C>A) c.350-7C>A (n.350-7C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202513712C= | CA1321537295 | BMPR2 | c.419-7C= (n.419-7C=) c.350-7C= (n.350-7C=) | |
2 | g.202513712C>T | CA1321537296 | BMPR2 | c.419-7C>T (n.419-7C>T) c.350-7C>T (n.350-7C>T) | dbSNP gnomAD v4 |
2 | g.202513713T>C | CA2662705371 | BMPR2 | c.419-6T>C (n.419-6T>C) c.350-6T>C (n.350-6T>C) | gnomAD v4 |
2 | g.202513715T>C | CA1321537298 | BMPR2 | c.419-4T>C (n.419-4T>C) c.350-4T>C (n.350-4T>C) | dbSNP gnomAD v4 |
2 | g.202513715T= | CA1321537297 | BMPR2 | c.419-4T= (n.419-4T=) c.350-4T= (n.350-4T=) | |
2 | g.202513716T>C | CA1321537300 | BMPR2 | c.419-3T>C (n.419-3T>C) c.350-3T>C (n.350-3T>C) | dbSNP |
2 | g.202513716T= | CA1321537299 | BMPR2 | c.419-3T= (n.419-3T=) c.350-3T= (n.350-3T=) | |
2 | g.202513717A= | CA1321537301 | BMPR2 | c.419-2A= (n.419-2A=) c.350-2A= (n.350-2A=) | |
2 | g.202513717A>C | CA350337780 | BMPR2 | c.419-2A>C (n.419-2A>C) c.350-2A>C (n.350-2A>C) | |
2 | g.202513717A>G | CA350337784 | BMPR2 | c.419-2A>G (n.419-2A>G) c.350-2A>G (n.350-2A>G) | |
2 | g.202513717A>T | CA2061126 | BMPR2 | c.419-2A>T (n.419-2A>T) c.350-2A>T (n.350-2A>T) | dbSNP ExAC |
2 | g.202513718G>A | CA350337788 | BMPR2 | c.419-1G>A (n.419-1G>A) c.350-1G>A (n.350-1G>A) | |
2 | g.202513718G>C | CA350337792 | BMPR2 | c.419-1G>C (n.419-1G>C) c.350-1G>C (n.350-1G>C) | |
2 | g.202513718G>T | CA350337794 | BMPR2 | c.419-1G>T (n.419-1G>T) c.350-1G>T (n.350-1G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.202513719G>A | CA350337797 | BMPR2 | c.419G>A (p.Ser140Asn) c.350G>A (p.Ser117Asn) | |
2 | g.202513719G>C | CA350337799 | BMPR2 | c.419G>C (p.Ser140Thr) c.350G>C (p.Ser117Thr) | |
2 | g.202513719G= | CA1321537302 | BMPR2 | c.419G= (p.Ser140=) c.350G= (p.Ser117=) | |
2 | g.202513719G>T | CA350337802 | BMPR2 | c.419G>T (p.Ser140Ile) c.350G>T (p.Ser117Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.202513720T>A | CA350337805 | BMPR2 | c.420T>A (p.Ser140Arg) c.351T>A (p.Ser117Arg) | |
2 | g.202513720T>C | CA430838381 | BMPR2 | c.420T>C (p.Ser140=) c.351T>C (p.Ser117=) | |
2 | g.202513720T>G | CA350337807 | BMPR2 | c.420T>G (p.Ser140Arg) c.351T>G (p.Ser117Arg) | |
2 | g.202513720T= | CA1321537303 | BMPR2 | c.420T= (p.Ser140=) c.351T= (p.Ser117=) | |
2 | g.202513720_202513721insG | CA645293798 | BMPR2 | c.420_421insG (p.Pro141AlafsTer6) c.351_352insG (p.Pro118AlafsTer6) | ClinVar dbSNP |
2 | g.202513721C>A | CA350337810 | BMPR2 | c.421C>A (p.Pro141Thr) c.352C>A (p.Pro118Thr) | gnomAD v4 |
2 | g.202513721C>G | CA350337811 | BMPR2 | c.421C>G (p.Pro141Ala) c.352C>G (p.Pro118Ala) | |
2 | g.202513721C>T | CA350337814 | BMPR2 | c.421C>T (p.Pro141Ser) c.352C>T (p.Pro118Ser) | |
2 | g.202513722C>A | CA350337823 | BMPR2 | c.422C>A (p.Pro141Gln) c.353C>A (p.Pro118Gln) | |
2 | g.202513722C>G | CA350337820 | BMPR2 | c.422C>G (p.Pro141Arg) c.353C>G (p.Pro118Arg) | |
2 | g.202513722C>T | CA350337818 | BMPR2 | c.422C>T (p.Pro141Leu) c.353C>T (p.Pro118Leu) | gnomAD v4 COSMIC |
2 | g.202513723A>C | CA430838385 | BMPR2 | c.423A>C (p.Pro141=) c.354A>C (p.Pro118=) | |
2 | g.202513723A>G | CA430838384 | BMPR2 | c.423A>G (p.Pro141=) c.354A>G (p.Pro118=) | |
2 | g.202513723A>T | CA430838383 | BMPR2 | c.423A>T (p.Pro141=) c.354A>T (p.Pro118=) | |
2 | g.202513724C>A | CA350337826 | BMPR2 | c.424C>A (p.Pro142Thr) c.355C>A (p.Pro119Thr) | |
2 | g.202513724C= | CA1321537304 | BMPR2 | c.424C= (p.Pro142=) c.355C= (p.Pro119=) | |
2 | g.202513724C>G | CA350337829 | BMPR2 | c.424C>G (p.Pro142Ala) c.355C>G (p.Pro119Ala) | |
2 | g.202513724C>T | CA350337831 | BMPR2 | c.424C>T (p.Pro142Ser) c.355C>T (p.Pro119Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513725C>A | CA350337835 | BMPR2 | c.425C>A (p.Pro142His) c.356C>A (p.Pro119His) | |
2 | g.202513725C>G | CA350337838 | BMPR2 | c.425C>G (p.Pro142Arg) c.356C>G (p.Pro119Arg) | |
2 | g.202513725C>T | CA350337840 | BMPR2 | c.425C>T (p.Pro142Leu) c.356C>T (p.Pro119Leu) | |
2 | g.202513726T>A | CA430838388 | BMPR2 | c.426T>A (p.Pro142=) c.357T>A (p.Pro119=) | gnomAD v4 |
2 | g.202513726T>C | CA430838389 | BMPR2 | c.426T>C (p.Pro142=) c.357T>C (p.Pro119=) | |
2 | g.202513726T>G | CA430838390 | BMPR2 | c.426T>G (p.Pro142=) c.357T>G (p.Pro119=) | |
2 | g.202513727C>A | CA350337844 | BMPR2 | c.427C>A (p.His143Asn) c.358C>A (p.His120Asn) | |
2 | g.202513727C= | CA1321537305 | BMPR2 | c.427C= (p.His143=) c.358C= (p.His120=) | |
2 | g.202513727C>G | CA350337848 | BMPR2 | c.427C>G (p.His143Asp) c.358C>G (p.His120Asp) | dbSNP gnomAD v4 |
2 | g.202513727C>T | CA350337851 | BMPR2 | c.427C>T (p.His143Tyr) c.358C>T (p.His120Tyr) | |
2 | g.202513728A= | CA1321537306 | BMPR2 | c.428A= (p.His143=) c.359A= (p.His120=) | |
2 | g.202513728A>C | CA350337855 | BMPR2 | c.428A>C (p.His143Pro) c.359A>C (p.His120Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513728A>G | CA350337858 | BMPR2 | c.428A>G (p.His143Arg) c.359A>G (p.His120Arg) | gnomAD v4 |
2 | g.202513728A>T | CA350337860 | BMPR2 | c.428A>T (p.His143Leu) c.359A>T (p.His120Leu) | |
2 | g.202513729T>A | CA350337863 | BMPR2 | c.429T>A (p.His143Gln) c.360T>A (p.His120Gln) | |
2 | g.202513729T>C | CA430838391 | BMPR2 | c.429T>C (p.His143=) c.360T>C (p.His120=) | |
2 | g.202513729T>G | CA350337866 | BMPR2 | c.429T>G (p.His143Gln) c.360T>G (p.His120Gln) | |
2 | g.202513730T>A | CA350337870 | BMPR2 | c.430T>A (p.Ser144Thr) c.361T>A (p.Ser121Thr) | |
2 | g.202513730T>C | CA350337871 | BMPR2 | c.430T>C (p.Ser144Pro) c.361T>C (p.Ser121Pro) | |
2 | g.202513730T>G | CA350337873 | BMPR2 | c.430T>G (p.Ser144Ala) c.361T>G (p.Ser121Ala) | |
2 | g.202513731C>A | CA350337876 | BMPR2 | c.431C>A (p.Ser144Ter) c.362C>A (p.Ser121Ter) | gnomAD v4 |
2 | g.202513731C>G | CA350337878 | BMPR2 | c.431C>G (p.Ser144Ter) c.362C>G (p.Ser121Ter) | |
2 | g.202513731C>T | CA350337880 | BMPR2 | c.431C>T (p.Ser144Leu) c.362C>T (p.Ser121Leu) | dbSNP |
2 | g.202513732A>C | CA430838392 | BMPR2 | c.432A>C (p.Ser144=) c.363A>C (p.Ser121=) | |
2 | g.202513732A>G | CA430838393 | BMPR2 | c.432A>G (p.Ser144=) c.363A>G (p.Ser121=) | gnomAD v4 |
2 | g.202513732A>T | CA430838394 | BMPR2 | c.432A>T (p.Ser144=) c.363A>T (p.Ser121=) | |
2 | g.202513732_202513733delinsAT | CA1321537307 | BMPR2 | c.432_433delinsAT (p.Ser144=) c.363_364delinsAT (p.Ser121=) | |
2 | g.202513733T>A | CA350337888 | BMPR2 | c.433T>A (p.Phe145Ile) c.364T>A (p.Phe122Ile) | |
2 | g.202513733T>C | CA350337882 | BMPR2 | c.433T>C (p.Phe145Leu) c.364T>C (p.Phe122Leu) | |
2 | g.202513733T>G | CA350337885 | BMPR2 | c.433T>G (p.Phe145Val) c.364T>G (p.Phe122Val) | |
2 | g.202513735del | CA645293799 | BMPR2 | c.435del (p.Phe145LeufsTer7) c.366del (p.Phe122LeufsTer7) | ClinVar dbSNP |
2 | g.202513734T>A | CA350337891 | BMPR2 | c.434T>A (p.Phe145Tyr) c.365T>A (p.Phe122Tyr) | |
2 | g.202513734T>C | CA350337894 | BMPR2 | c.434T>C (p.Phe145Ser) c.365T>C (p.Phe122Ser) | |
2 | g.202513734T>G | CA350337895 | BMPR2 | c.434T>G (p.Phe145Cys) c.365T>G (p.Phe122Cys) | |
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=) | |
2 | g.202513748A>C | CA350337986 | BMPR2 | c.448A>C (p.Thr150Pro) c.379A>C (p.Thr127Pro) | |
2 | g.202513748A>G | CA350337988 | BMPR2 | c.448A>G (p.Thr150Ala) c.379A>G (p.Thr127Ala) | |
2 | g.202513748A>T | CA350337991 | BMPR2 | c.448A>T (p.Thr150Ser) c.379A>T (p.Thr127Ser) | |
2 | g.202513749C>A | CA350337995 | BMPR2 | c.449C>A (p.Thr150Lys) c.380C>A (p.Thr127Lys) | |
2 | g.202513749C= | CA1321537316 | BMPR2 | c.449C= (p.Thr150=) c.380C= (p.Thr127=) | |
2 | g.202513749C>G | CA350338000 | BMPR2 | c.449C>G (p.Thr150Arg) c.380C>G (p.Thr127Arg) | |
2 | g.202513749C>T | CA350337997 | BMPR2 | c.449C>T (p.Thr150Ile) c.380C>T (p.Thr127Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202513749dup | CA645293800 | BMPR2 | c.449dup (p.Ile151AsnfsTer30) c.380dup (p.Ile128AsnfsTer30) | ClinVar dbSNP |
2 | g.202513750A= | CA1321537317 | BMPR2 | c.450A= (p.Thr150=) c.381A= (p.Thr127=) | |
2 | g.202513750A>C | CA430838402 | BMPR2 | c.450A>C (p.Thr150=) c.381A>C (p.Thr127=) | |
2 | g.202513750A>G | CA430838403 | BMPR2 | c.450A>G (p.Thr150=) c.381A>G (p.Thr127=) | dbSNP gnomAD v4 |
2 | g.202513750A>T | CA430838404 | BMPR2 | c.450A>T (p.Thr150=) c.381A>T (p.Thr127=) | |
2 | g.202513751del | CA2586970997 | BMPR2 | c.451del (p.Ile151Ter) c.382del (p.Ile128Ter) | |
2 | g.202513751A>C | CA350338003 | BMPR2 | c.451A>C (p.Ile151Leu) c.382A>C (p.Ile128Leu) | |
2 | g.202513751A>G | CA350338004 | BMPR2 | c.451A>G (p.Ile151Val) c.382A>G (p.Ile128Val) | |
2 | g.202513751A>T | CA350338005 | BMPR2 | c.451A>T (p.Ile151Leu) c.382A>T (p.Ile128Leu) | |
2 | g.202513752_202513753del | CA2586970998 | BMPR2 | c.452_453del (p.Ile151AsnfsTer29) c.383_384del (p.Ile128AsnfsTer29) | |
2 | g.202513752T>A | CA350338010 | BMPR2 | c.452T>A (p.Ile151Lys) c.383T>A (p.Ile128Lys) | |
2 | g.202513752T>C | CA64012002 | BMPR2 | c.452T>C (p.Ile151Thr) c.383T>C (p.Ile128Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202513752T>G | CA350338013 | BMPR2 | c.452T>G (p.Ile151Arg) c.383T>G (p.Ile128Arg) | |
2 | g.202513752T= | CA1321537318 | BMPR2 | c.452T= (p.Ile151=) c.383T= (p.Ile128=) | |
2 | g.202513753A= | CA1321537319 | BMPR2 | c.453A= (p.Ile151=) c.384A= (p.Ile128=) | |
2 | g.202513753A>C | CA64012007 | BMPR2 | c.453A>C (p.Ile151=) c.384A>C (p.Ile128=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202513753A>G | CA350338019 | BMPR2 | c.453A>G (p.Ile151Met) c.384A>G (p.Ile128Met) | |
2 | g.202513753A>T | CA430838405 | BMPR2 | c.453A>T (p.Ile151=) c.384A>T (p.Ile128=) | |
2 | g.202513754A>C | CA350338023 | BMPR2 | c.454A>C (p.Ile152Leu) c.385A>C (p.Ile129Leu) | |
2 | g.202513754A>G | CA350338027 | BMPR2 | c.454A>G (p.Ile152Val) c.385A>G (p.Ile129Val) | gnomAD v4 |
2 | g.202513754A>T | CA350338029 | BMPR2 | c.454A>T (p.Ile152Phe) c.385A>T (p.Ile129Phe) | |
2 | g.202513755T>A | CA350338031 | BMPR2 | c.455T>A (p.Ile152Asn) c.386T>A (p.Ile129Asn) | |
2 | g.202513755T>C | CA350338036 | BMPR2 | c.455T>C (p.Ile152Thr) c.386T>C (p.Ile129Thr) | |
2 | g.202513755T>G | CA350338032 | BMPR2 | c.455T>G (p.Ile152Ser) c.386T>G (p.Ile129Ser) | |
2 | g.202513756C>A | CA430838407 | BMPR2 | c.456C>A (p.Ile152=) c.387C>A (p.Ile129=) | |
2 | g.202513756C>G | CA350338042 | BMPR2 | c.456C>G (p.Ile152Met) c.387C>G (p.Ile129Met) | |
2 | g.202513756C>T | CA430838409 | BMPR2 | c.456C>T (p.Ile152=) c.387C>T (p.Ile129=) | |
2 | g.202513757A= | CA1321537320 | BMPR2 | c.457A= (p.Ile153=) c.388A= (p.Ile130=) | |
2 | g.202513757A>C | CA350338044 | BMPR2 | c.457A>C (p.Ile153Leu) c.388A>C (p.Ile130Leu) | |
2 | g.202513757A>G | CA2061130 | BMPR2 | c.457A>G (p.Ile153Val) c.388A>G (p.Ile130Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202513757A>T | CA350338049 | BMPR2 | c.457A>T (p.Ile153Phe) c.388A>T (p.Ile130Phe) | |
2 | g.202513758T>A | CA350338052 | BMPR2 | c.458T>A (p.Ile153Asn) c.389T>A (p.Ile130Asn) | |
2 | g.202513758T>C | CA350338055 | BMPR2 | c.458T>C (p.Ile153Thr) c.389T>C (p.Ile130Thr) | |
2 | g.202513758T>G | CA350338057 | BMPR2 | c.458T>G (p.Ile153Ser) c.389T>G (p.Ile130Ser) | |
2 | g.202513759del | CA2586970999 | BMPR2 | c.459del (p.Ile153MetfsTer9) c.390del (p.Ile130MetfsTer9) | |
2 | g.202513759T>A | CA430838410 | BMPR2 | c.459T>A (p.Ile153=) c.390T>A (p.Ile130=) | |
2 | g.202513759T>C | CA430838411 | BMPR2 | c.459T>C (p.Ile153=) c.390T>C (p.Ile130=) | |
2 | g.202513759T>G | CA350338061 | BMPR2 | c.459T>G (p.Ile153Met) c.390T>G (p.Ile130Met) | gnomAD v4 |
2 | g.202513760G>A | CA350338064 | BMPR2 | c.460G>A (p.Ala154Thr) c.391G>A (p.Ala131Thr) | |
2 | g.202513760G>C | CA350338067 | BMPR2 | c.460G>C (p.Ala154Pro) c.391G>C (p.Ala131Pro) | |
2 | g.202513760G>T | CA350338068 | BMPR2 | c.460G>T (p.Ala154Ser) c.391G>T (p.Ala131Ser) | |
2 | g.202513761C>A | CA350338075 | BMPR2 | c.461C>A (p.Ala154Asp) c.392C>A (p.Ala131Asp) | |
2 | g.202513761C= | CA1321537321 | BMPR2 | c.461C= (p.Ala154=) c.392C= (p.Ala131=) | |
2 | g.202513761C>G | CA350338072 | BMPR2 | c.461C>G (p.Ala154Gly) c.392C>G (p.Ala131Gly) | ClinVar dbSNP |
2 | g.202513761C>T | CA64012032 | BMPR2 | c.461C>T (p.Ala154Val) c.392C>T (p.Ala131Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202513762T>A | CA430838412 | BMPR2 | c.462T>A (p.Ala154=) c.393T>A (p.Ala131=) | |
2 | g.202513762T>C | CA430838413 | BMPR2 | c.462T>C (p.Ala154=) c.393T>C (p.Ala131=) | |
2 | g.202513762T>G | CA430838414 | BMPR2 | c.462T>G (p.Ala154=) c.393T>G (p.Ala131=) | |
2 | g.202513763T>A | CA350338078 | BMPR2 | c.463T>A (p.Leu155Met) c.394T>A (p.Leu132Met) | |
2 | g.202513763T>C | CA430838415 | BMPR2 | c.463T>C (p.Leu155=) c.394T>C (p.Leu132=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202513763T>G | CA350338080 | BMPR2 | c.463T>G (p.Leu155Val) c.394T>G (p.Leu132Val) | |
2 | g.202513763T= | CA1321537322 | BMPR2 | c.463T= (p.Leu155=) c.394T= (p.Leu132=) | |
2 | g.202513764T>A | CA350338084 | BMPR2 | c.464T>A (p.Leu155Ter) c.395T>A (p.Leu132Ter) | COSMIC |
2 | g.202513764T>C | CA350338086 | BMPR2 | c.464T>C (p.Leu155Ser) c.395T>C (p.Leu132Ser) | |
2 | g.202513764T>G | CA350338089 | BMPR2 | c.464T>G (p.Leu155Trp) c.395T>G (p.Leu132Trp) | |
2 | g.202513765G>A | CA430838416 | BMPR2 | c.465G>A (p.Leu155=) c.396G>A (p.Leu132=) | ClinVar COSMIC |
2 | g.202513765G>C | CA350338091 | BMPR2 | c.465G>C (p.Leu155Phe) c.396G>C (p.Leu132Phe) | |
2 | g.202513765G>T | CA350338094 | BMPR2 | c.465G>T (p.Leu155Phe) c.396G>T (p.Leu132Phe) | |
2 | g.202513766G>A | CA350338098 | BMPR2 | c.466G>A (p.Ala156Thr) c.397G>A (p.Ala133Thr) | COSMIC |
2 | g.202513766G>C | CA350338101 | BMPR2 | c.466G>C (p.Ala156Pro) c.397G>C (p.Ala133Pro) | |
2 | g.202513766G= | CA1321537323 | BMPR2 | c.466G= (p.Ala156=) c.397G= (p.Ala133=) | |
2 | g.202513766G>T | CA350338103 | BMPR2 | c.466G>T (p.Ala156Ser) c.397G>T (p.Ala133Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202513767C>A | CA350338106 | BMPR2 | c.467C>A (p.Ala156Glu) c.398C>A (p.Ala133Glu) | |
2 | g.202513767C= | CA1321537324 | BMPR2 | c.467C= (p.Ala156=) c.398C= (p.Ala133=) | |
2 | g.202513767C>G | CA350338108 | BMPR2 | c.467C>G (p.Ala156Gly) c.398C>G (p.Ala133Gly) | |
2 | g.202513767C>T | CA2061131 | BMPR2 | c.467C>T (p.Ala156Val) c.398C>T (p.Ala133Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202513768A>C | CA430838419 | BMPR2 | c.468A>C (p.Ala156=) c.399A>C (p.Ala133=) | |
2 | g.202513768A>G | CA430838418 | BMPR2 | c.468A>G (p.Ala156=) c.399A>G (p.Ala133=) | gnomAD v4 COSMIC |
2 | g.202513768A>T | CA430838417 | BMPR2 | c.468A>T (p.Ala156=) c.399A>T (p.Ala133=) | |
2 | g.202513769T>A | CA350338117 | BMPR2 | c.469T>A (p.Ser157Thr) c.400T>A (p.Ser134Thr) | |
2 | g.202513769T>C | CA350338119 | BMPR2 | c.469T>C (p.Ser157Pro) c.400T>C (p.Ser134Pro) | |
2 | g.202513769T>G | CA350338114 | BMPR2 | c.469T>G (p.Ser157Ala) c.400T>G (p.Ser134Ala) | |
2 | g.202513770C>A | CA350338124 | BMPR2 | c.470C>A (p.Ser157Ter) c.401C>A (p.Ser134Ter) | |
2 | g.202513770C= | CA1321537325 | BMPR2 | c.470C= (p.Ser157=) c.401C= (p.Ser134=) | |
2 | g.202513770C>G | CA350338120 | BMPR2 | c.470C>G (p.Ser157Ter) c.401C>G (p.Ser134Ter) | ClinVar dbSNP |
2 | g.202513770C>T | CA350338122 | BMPR2 | c.470C>T (p.Ser157Leu) c.401C>T (p.Ser134Leu) | dbSNP gnomAD v4 |
2 | g.202513771A>C | CA430838420 | BMPR2 | c.471A>C (p.Ser157=) c.402A>C (p.Ser134=) | |
2 | g.202513771A>G | CA430838422 | BMPR2 | c.471A>G (p.Ser157=) c.402A>G (p.Ser134=) | |
2 | g.202513771A>T | CA430838421 | BMPR2 | c.471A>T (p.Ser157=) c.402A>T (p.Ser134=) | |
2 | g.202513772G>A | CA350338127 | BMPR2 | c.472G>A (p.Val158Ile) c.403G>A (p.Val135Ile) | |
2 | g.202513772G>C | CA350338129 | BMPR2 | c.472G>C (p.Val158Leu) c.403G>C (p.Val135Leu) | |
2 | g.202513772G>T | CA350338131 | BMPR2 | c.472G>T (p.Val158Phe) c.403G>T (p.Val135Phe) | |
2 | g.202513773T>A | CA350338136 | BMPR2 | c.473T>A (p.Val158Asp) c.404T>A (p.Val135Asp) | |
2 | g.202513773T>C | CA350338139 | BMPR2 | c.473T>C (p.Val158Ala) c.404T>C (p.Val135Ala) | |
2 | g.202513773T>G | CA350338140 | BMPR2 | c.473T>G (p.Val158Gly) c.404T>G (p.Val135Gly) | |
2 | g.202513776_202513777dup | CA2586971000 | BMPR2 | c.476_477dup (p.Val160LeufsTer3) c.407_408dup (p.Val137LeufsTer3) | |
2 | g.202513774C>A | CA430838423 | BMPR2 | c.474C>A (p.Val158=) c.405C>A (p.Val135=) | |
2 | g.202513774C>G | CA430838424 | BMPR2 | c.474C>G (p.Val158=) c.405C>G (p.Val135=) | |
2 | g.202513774C>T | CA430838425 | BMPR2 | c.474C>T (p.Val158=) c.405C>T (p.Val135=) | gnomAD v4 |
2 | g.202513775T>A | CA350338144 | BMPR2 | c.475T>A (p.Ser159Thr) c.406T>A (p.Ser136Thr) | |
2 | g.202513775T>C | CA350338146 | BMPR2 | c.475T>C (p.Ser159Pro) c.406T>C (p.Ser136Pro) | |
2 | g.202513775T>G | CA350338149 | BMPR2 | c.475T>G (p.Ser159Ala) c.406T>G (p.Ser136Ala) | gnomAD v4 |
2 | g.202513776C>A | CA350338160 | BMPR2 | c.476C>A (p.Ser159Tyr) c.407C>A (p.Ser136Tyr) | |
2 | g.202513776C>G | CA350338155 | BMPR2 | c.476C>G (p.Ser159Cys) c.407C>G (p.Ser136Cys) | gnomAD v4 |
2 | g.202513776C>T | CA350338153 | BMPR2 | c.476C>T (p.Ser159Phe) c.407C>T (p.Ser136Phe) | |
2 | g.202513777T>A | CA430838426 | BMPR2 | c.477T>A (p.Ser159=) c.408T>A (p.Ser136=) | |
2 | g.202513777T>C | CA430838427 | BMPR2 | c.477T>C (p.Ser159=) c.408T>C (p.Ser136=) | |
2 | g.202513777T>G | CA430838428 | BMPR2 | c.477T>G (p.Ser159=) c.408T>G (p.Ser136=) | |
2 | g.202513778_202513779del | CA2586971001 | BMPR2 | c.478_479del (p.Val160IlefsTer20) c.409_410del (p.Val137IlefsTer20) | |
2 | g.202513778G>A | CA350338164 | BMPR2 | c.478G>A (p.Val160Ile) c.409G>A (p.Val137Ile) | |
2 | g.202513778G>C | CA350338167 | BMPR2 | c.478G>C (p.Val160Leu) c.409G>C (p.Val137Leu) | |
2 | g.202513778G>T | CA350338169 | BMPR2 | c.478G>T (p.Val160Leu) c.409G>T (p.Val137Leu) | |
2 | g.202513779T>A | CA350338173 | BMPR2 | c.479T>A (p.Val160Glu) c.410T>A (p.Val137Glu) | |
2 | g.202513779T>C | CA350338176 | BMPR2 | c.479T>C (p.Val160Ala) c.410T>C (p.Val137Ala) | |
2 | g.202513779T>G | CA350338179 | BMPR2 | c.479T>G (p.Val160Gly) c.410T>G (p.Val137Gly) | |
2 | g.202513779dup | CA2586971002 | BMPR2 | c.479dup (p.Leu161IlefsTer20) c.410dup (p.Leu138IlefsTer20) | |
2 | g.202513780A= | CA1321537326 | BMPR2 | c.480A= (p.Val160=) c.411A= (p.Val137=) | |
2 | g.202513780A>C | CA430838429 | BMPR2 | c.480A>C (p.Val160=) c.411A>C (p.Val137=) | |
2 | g.202513780A>G | CA430838430 | BMPR2 | c.480A>G (p.Val160=) c.411A>G (p.Val137=) | dbSNP |
2 | g.202513780A>T | CA430838431 | BMPR2 | c.480A>T (p.Val160=) c.411A>T (p.Val137=) | |
2 | g.202513781T>A | CA350338182 | BMPR2 | c.481T>A (p.Leu161Ile) c.412T>A (p.Leu138Ile) | |
2 | g.202513781T>C | CA430838432 | BMPR2 | c.481T>C (p.Leu161=) c.412T>C (p.Leu138=) | |
2 | g.202513781T>G | CA350338188 | BMPR2 | c.481T>G (p.Leu161Val) c.412T>G (p.Leu138Val) | |
2 | g.202513782T>A | CA350338192 | BMPR2 | c.482T>A (p.Leu161Ter) c.413T>A (p.Leu138Ter) | ClinVar dbSNP |
2 | g.202513782T>C | CA350338194 | BMPR2 | c.482T>C (p.Leu161Ser) c.413T>C (p.Leu138Ser) | dbSNP gnomAD v4 |
2 | g.202513782T>G | CA350338197 | BMPR2 | c.482T>G (p.Leu161Ter) c.413T>G (p.Leu138Ter) | |
2 | g.202513782T= | CA1321537327 | BMPR2 | c.482T= (p.Leu161=) c.413T= (p.Leu138=) | |
2 | g.202513783A>C | CA350338200 | BMPR2 | c.483A>C (p.Leu161Phe) c.414A>C (p.Leu138Phe) | |
2 | g.202513783A>G | CA430838433 | BMPR2 | c.483A>G (p.Leu161=) c.414A>G (p.Leu138=) | |
2 | g.202513783A>T | CA350338202 | BMPR2 | c.483A>T (p.Leu161Phe) c.414A>T (p.Leu138Phe) | |
2 | g.202513784G>A | CA64012047 | BMPR2 | c.484G>A (p.Ala162Thr) c.415G>A (p.Ala139Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202513784G>C | CA350338210 | BMPR2 | c.484G>C (p.Ala162Pro) c.415G>C (p.Ala139Pro) | |
2 | g.202513784G= | CA1321537328 | BMPR2 | c.484G= (p.Ala162=) c.415G= (p.Ala139=) | |
2 | g.202513784G>T | CA350338205 | BMPR2 | c.484G>T (p.Ala162Ser) c.415G>T (p.Ala139Ser) | |
2 | g.202513785C>A | CA350338213 | BMPR2 | c.485C>A (p.Ala162Asp) c.416C>A (p.Ala139Asp) | |
2 | g.202513785C>G | CA350338216 | BMPR2 | c.485C>G (p.Ala162Gly) c.416C>G (p.Ala139Gly) | |
2 | g.202513785C>T | CA350338218 | BMPR2 | c.485C>T (p.Ala162Val) c.416C>T (p.Ala139Val) | |
2 | g.202513786T>A | CA430838434 | BMPR2 | c.486T>A (p.Ala162=) c.417T>A (p.Ala139=) | |
2 | g.202513786T>C | CA430838435 | BMPR2 | c.486T>C (p.Ala162=) c.417T>C (p.Ala139=) | |
2 | g.202513786T>G | CA430838436 | BMPR2 | c.486T>G (p.Ala162=) c.417T>G (p.Ala139=) | |
2 | g.202513787G>A | CA350338222 | BMPR2 | c.487G>A (p.Val163Ile) c.418G>A (p.Val140Ile) | |
2 | g.202513787G>C | CA350338225 | BMPR2 | c.487G>C (p.Val163Leu) c.418G>C (p.Val140Leu) | |
2 | g.202513787G>T | CA350338226 | BMPR2 | c.487G>T (p.Val163Phe) c.418G>T (p.Val140Phe) | |
2 | g.202513788T>A | CA350338229 | BMPR2 | c.488T>A (p.Val163Asp) c.419T>A (p.Val140Asp) | |
2 | g.202513788T>C | CA350338231 | BMPR2 | c.488T>C (p.Val163Ala) c.419T>C (p.Val140Ala) | |
2 | g.202513788T>G | CA350338233 | BMPR2 | c.488T>G (p.Val163Gly) c.419T>G (p.Val140Gly) | |
2 | g.202513791del | CA2586971003 | BMPR2 | c.491del (p.Leu164Ter) c.422del (p.Leu141Ter) | |
2 | g.202513789T>A | CA430838437 | BMPR2 | c.489T>A (p.Val163=) c.420T>A (p.Val140=) | gnomAD v4 |
2 | g.202513789T>C | CA2061132 | BMPR2 | c.489T>C (p.Val163=) c.420T>C (p.Val140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202513789T>G | CA430838438 | BMPR2 | c.489T>G (p.Val163=) c.420T>G (p.Val140=) | |
2 | g.202513789T= | CA1321537329 | BMPR2 | c.489T= (p.Val163=) c.420T= (p.Val140=) | |
2 | g.202513790T>A | CA350338238 | BMPR2 | c.490T>A (p.Leu164Met) c.421T>A (p.Leu141Met) | |
2 | g.202513790T>C | CA430838439 | BMPR2 | c.490T>C (p.Leu164=) c.421T>C (p.Leu141=) | ClinVar dbSNP |
2 | g.202513790T>G | CA350338240 | BMPR2 | c.490T>G (p.Leu164Val) c.421T>G (p.Leu141Val) | |
2 | g.202513790T= | CA1321537330 | BMPR2 | c.490T= (p.Leu164=) c.421T= (p.Leu141=) | |
2 | g.202513791T>A | CA350338242 | BMPR2 | c.491T>A (p.Leu164Ter) c.422T>A (p.Leu141Ter) | |
2 | g.202513791T>C | CA350338245 | BMPR2 | c.491T>C (p.Leu164Ser) c.422T>C (p.Leu141Ser) | |
2 | g.202513791T>G | CA350338248 | BMPR2 | c.491T>G (p.Leu164Trp) c.422T>G (p.Leu141Trp) | |
2 | g.202513792G>A | CA430838441 | BMPR2 | c.492G>A (p.Leu164=) c.423G>A (p.Leu141=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202513792G>C | CA350338251 | BMPR2 | c.492G>C (p.Leu164Phe) c.423G>C (p.Leu141Phe) | dbSNP gnomAD v2 |
2 | g.202513792G= | CA1321537331 | BMPR2 | c.492G= (p.Leu164=) c.423G= (p.Leu141=) | |
2 | g.202513792G>T | CA350338252 | BMPR2 | c.492G>T (p.Leu164Phe) c.423G>T (p.Leu141Phe) | gnomAD v4 |
2 | g.202513793A>C | CA350338255 | BMPR2 | c.493A>C (p.Ile165Leu) c.424A>C (p.Ile142Leu) | |
2 | g.202513793A>G | CA350338257 | BMPR2 | c.493A>G (p.Ile165Val) c.424A>G (p.Ile142Val) | |
2 | g.202513793A>T | CA350338260 | BMPR2 | c.493A>T (p.Ile165Leu) c.424A>T (p.Ile142Leu) | |
2 | g.202513794T>A | CA2061133 | BMPR2 | c.494T>A (p.Ile165Lys) c.425T>A (p.Ile142Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202513794T>C | CA350338264 | BMPR2 | c.494T>C (p.Ile165Thr) c.425T>C (p.Ile142Thr) | gnomAD v4 |
2 | g.202513794T>G | CA350338266 | BMPR2 | c.494T>G (p.Ile165Arg) c.425T>G (p.Ile142Arg) | |
2 | g.202513794T= | CA1321537332 | BMPR2 | c.494T= (p.Ile165=) c.425T= (p.Ile142=) | |
2 | g.202513795A>C | CA430838463 | BMPR2 | c.495A>C (p.Ile165=) c.426A>C (p.Ile142=) | |
2 | g.202513795A>G | CA350338268 | BMPR2 | c.495A>G (p.Ile165Met) c.426A>G (p.Ile142Met) | |
2 | g.202513795A>T | CA430838464 | BMPR2 | c.495A>T (p.Ile165=) c.426A>T (p.Ile142=) | |
2 | g.202513796G>A | CA350338270 | BMPR2 | c.496G>A (p.Val166Ile) c.427G>A (p.Val143Ile) | gnomAD v4 |
2 | g.202513796G>C | CA350338272 | BMPR2 | c.496G>C (p.Val166Leu) c.427G>C (p.Val143Leu) | |
2 | g.202513796G>T | CA350338275 | BMPR2 | c.496G>T (p.Val166Phe) c.427G>T (p.Val143Phe) | COSMIC |
2 | g.202513796_202513797delinsGT | CA1321537333 | BMPR2 | c.496_497delinsGT (p.Val166=) c.427_428delinsGT (p.Val143=) | |
2 | g.202513797T>A | CA350338278 | BMPR2 | c.497T>A (p.Val166Asp) c.428T>A (p.Val143Asp) | |
2 | g.202513797T>C | CA350338281 | BMPR2 | c.497T>C (p.Val166Ala) c.428T>C (p.Val143Ala) | COSMIC |
2 | g.202513797T>G | CA350338282 | BMPR2 | c.497T>G (p.Val166Gly) c.428T>G (p.Val143Gly) | |
2 | g.202513798del | CA645293801 | BMPR2 | c.498del (p.Ala167ProfsTer9) c.429del (p.Ala144ProfsTer9) | ClinVar dbSNP |
2 | g.202513798T>A | CA430838466 | BMPR2 | c.498T>A (p.Val166=) c.429T>A (p.Val143=) | |
2 | g.202513798T>C | CA430838468 | BMPR2 | c.498T>C (p.Val166=) c.429T>C (p.Val143=) | |
2 | g.202513798T>G | CA430838467 | BMPR2 | c.498T>G (p.Val166=) c.429T>G (p.Val143=) | |
2 | g.202513799G>A | CA350338291 | BMPR2 | c.499G>A (p.Ala167Thr) c.430G>A (p.Ala144Thr) | |
2 | g.202513799G>C | CA350338288 | BMPR2 | c.499G>C (p.Ala167Pro) c.430G>C (p.Ala144Pro) | gnomAD v4 |
2 | g.202513799G= | CA1321537334 | BMPR2 | c.499G= (p.Ala167=) c.430G= (p.Ala144=) | |
2 | g.202513799G>T | CA350338286 | BMPR2 | c.499G>T (p.Ala167Ser) c.430G>T (p.Ala144Ser) | dbSNP gnomAD v4 |
2 | g.202513800C>A | CA350338295 | BMPR2 | c.500C>A (p.Ala167Asp) c.431C>A (p.Ala144Asp) | |
2 | g.202513800C>G | CA350338299 | BMPR2 | c.500C>G (p.Ala167Gly) c.431C>G (p.Ala144Gly) | gnomAD v4 |
2 | g.202513800C>T | CA350338297 | BMPR2 | c.500C>T (p.Ala167Val) c.431C>T (p.Ala144Val) | |
2 | g.202513801C>A | CA430838472 | BMPR2 | c.501C>A (p.Ala167=) c.432C>A (p.Ala144=) | |
2 | g.202513801C= | CA1321537335 | BMPR2 | c.501C= (p.Ala167=) c.432C= (p.Ala144=) | |
2 | g.202513801C>G | CA430838473 | BMPR2 | c.501C>G (p.Ala167=) c.432C>G (p.Ala144=) | |
2 | g.202513801C>T | CA430838474 | BMPR2 | c.501C>T (p.Ala167=) c.432C>T (p.Ala144=) | |
2 | g.202513802T>A | CA350338301 | BMPR2 | c.502T>A (p.Leu168Ile) c.433T>A (p.Leu145Ile) | |
2 | g.202513802T>C | CA430838478 | BMPR2 | c.502T>C (p.Leu168=) c.433T>C (p.Leu145=) | |
2 | g.202513802T>G | CA350338302 | BMPR2 | c.502T>G (p.Leu168Val) c.433T>G (p.Leu145Val) | COSMIC |
2 | g.202513803dup | CA645293802 | BMPR2 | c.503dup (p.Leu168PhefsTer13) c.434dup (p.Leu145PhefsTer13) | ClinVar dbSNP |
2 | g.202513803T>A | CA350338306 | BMPR2 | c.503T>A (p.Leu168Ter) c.434T>A (p.Leu145Ter) | |
2 | g.202513803T>C | CA350338308 | BMPR2 | c.503T>C (p.Leu168Ser) c.434T>C (p.Leu145Ser) | |
2 | g.202513803T>G | CA350338310 | BMPR2 | c.503T>G (p.Leu168Ter) c.434T>G (p.Leu145Ter) | |
2 | g.202513804A>C | CA350338313 | BMPR2 | c.504A>C (p.Leu168Phe) c.435A>C (p.Leu145Phe) | |
2 | g.202513804A>G | CA430838480 | BMPR2 | c.504A>G (p.Leu168=) c.435A>G (p.Leu145=) | |
2 | g.202513804A>T | CA350338315 | BMPR2 | c.504A>T (p.Leu168Phe) c.435A>T (p.Leu145Phe) | |
2 | g.202513805T>A | CA350338317 | BMPR2 | c.505T>A (p.Cys169Ser) c.436T>A (p.Cys146Ser) | |
2 | g.202513805T>C | CA350338319 | BMPR2 | c.505T>C (p.Cys169Arg) c.436T>C (p.Cys146Arg) | |
2 | g.202513805T>G | CA350338322 | BMPR2 | c.505T>G (p.Cys169Gly) c.436T>G (p.Cys146Gly) | |
2 | g.202513805dup | CA658761130 | BMPR2 | c.505dup (p.Cys169LeufsTer12) c.436dup (p.Cys146LeufsTer12) | |
2 | g.202513806G>A | CA350338325 | BMPR2 | c.506G>A (p.Cys169Tyr) c.437G>A (p.Cys146Tyr) | |
2 | g.202513806G>C | CA350338330 | BMPR2 | c.506G>C (p.Cys169Ser) c.437G>C (p.Cys146Ser) | |
2 | g.202513806G>T | CA350338327 | BMPR2 | c.506G>T (p.Cys169Phe) c.437G>T (p.Cys146Phe) | |
2 | g.202513806_202513810delinsGCTTT | CA1321537336 | BMPR2 | c.506_510delinsGCTTT (p.Cys169=) c.437_441delinsGCTTT (p.Cys146=) | |
2 | g.202513807C>A | CA278083 | BMPR2 | c.507C>A (p.Cys169Ter) c.438C>A (p.Cys146Ter) | ClinVar dbSNP |
2 | g.202513807C= | CA1321537337 | BMPR2 | c.507C= (p.Cys169=) c.438C= (p.Cys146=) | |
2 | g.202513807C>G | CA350338333 | BMPR2 | c.507C>G (p.Cys169Trp) c.438C>G (p.Cys146Trp) | |
2 | g.202513807C>T | CA430838482 | BMPR2 | c.507C>T (p.Cys169=) c.438C>T (p.Cys146=) | |
2 | g.202513807_202513810delinsAAA | CA645293803 | BMPR2 | c.507_510delinsAAA (p.Cys169Ter) c.438_441delinsAAA (p.Cys146Ter) | ClinVar dbSNP |
2 | g.202513808T>A | CA350338336 | BMPR2 | c.508T>A (p.Phe170Ile) c.439T>A (p.Phe147Ile) | |
2 | g.202513808T>C | CA350338338 | BMPR2 | c.508T>C (p.Phe170Leu) c.439T>C (p.Phe147Leu) | |
2 | g.202513808T>G | CA350338339 | BMPR2 | c.508T>G (p.Phe170Val) c.439T>G (p.Phe147Val) | |
2 | g.202513809T>A | CA350338344 | BMPR2 | c.509T>A (p.Phe170Tyr) c.440T>A (p.Phe147Tyr) | |
2 | g.202513809T>C | CA350338349 | BMPR2 | c.509T>C (p.Phe170Ser) c.440T>C (p.Phe147Ser) | |
2 | g.202513809T>G | CA350338347 | BMPR2 | c.509T>G (p.Phe170Cys) c.440T>G (p.Phe147Cys) |