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.202514907T>A | CA430838547 | BMPR2 | c.549T>A (p.Leu183=) c.480T>A (p.Leu160=) | |
2 | g.202514907T>C | CA2061147 | BMPR2 | c.549T>C (p.Leu183=) c.480T>C (p.Leu160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514907T>G | CA430838548 | BMPR2 | c.549T>G (p.Leu183=) c.480T>G (p.Leu160=) | |
2 | g.202514907T= | CA1321537849 | BMPR2 | c.549T= (p.Leu183=) c.480T= (p.Leu160=) | |
2 | g.202514908C>A | CA350338751 | BMPR2 | c.550C>A (p.His184Asn) c.481C>A (p.His161Asn) | |
2 | g.202514908C= | CA1321537851 | BMPR2 | c.550C= (p.His184=) c.481C= (p.His161=) | |
2 | g.202514908C>G | CA350338754 | BMPR2 | c.550C>G (p.His184Asp) c.481C>G (p.His161Asp) | |
2 | g.202514908C>T | CA350338757 | BMPR2 | c.550C>T (p.His184Tyr) c.481C>T (p.His161Tyr) | dbSNP |
2 | g.202514908_202514931delinsCACAGTATGAACATGATGGAGGCA | CA1321537850 | BMPR2 | c.550_573delinsCACAGTATGAACATGATGGAGGCA (p.His184=) c.481_504delinsCACAGTATGAACATGATGGAGGCA (p.His161=) | |
2 | g.202514909A>C | CA350338765 | BMPR2 | c.551A>C (p.His184Pro) c.482A>C (p.His161Pro) | |
2 | g.202514909A>G | CA350338763 | BMPR2 | c.551A>G (p.His184Arg) c.482A>G (p.His161Arg) | |
2 | g.202514909A>T | CA350338761 | BMPR2 | c.551A>T (p.His184Leu) c.482A>T (p.His161Leu) | |
2 | g.202514909dup | CA2586971005 | BMPR2 | c.551dup (p.His184GlnfsTer16) c.482dup (p.His161GlnfsTer16) | |
2 | g.202514909_202514931del | CA645293805 | BMPR2 | c.551_573del (p.His184ArgfsTer8) c.482_504del (p.His161ArgfsTer8) | ClinVar dbSNP |
2 | g.202514910C>A | CA350338767 | BMPR2 | c.552C>A (p.His184Gln) c.483C>A (p.His161Gln) | |
2 | g.202514910C>G | CA350338770 | BMPR2 | c.552C>G (p.His184Gln) c.483C>G (p.His161Gln) | |
2 | g.202514910C>T | CA430838549 | BMPR2 | c.552C>T (p.His184=) c.483C>T (p.His161=) | |
2 | g.202514911A= | CA1321537852 | BMPR2 | c.553A= (p.Ser185=) c.484A= (p.Ser162=) | |
2 | g.202514911A>C | CA350338774 | BMPR2 | c.553A>C (p.Ser185Arg) c.484A>C (p.Ser162Arg) | |
2 | g.202514911A>G | CA350338775 | BMPR2 | c.553A>G (p.Ser185Gly) c.484A>G (p.Ser162Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514911A>T | CA350338778 | BMPR2 | c.553A>T (p.Ser185Cys) c.484A>T (p.Ser162Cys) | |
2 | g.202514912G>A | CA350338782 | BMPR2 | c.554G>A (p.Ser185Asn) c.485G>A (p.Ser162Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514912G>C | CA350338785 | BMPR2 | c.554G>C (p.Ser185Thr) c.485G>C (p.Ser162Thr) | |
2 | g.202514912G= | CA1321537853 | BMPR2 | c.554G= (p.Ser185=) c.485G= (p.Ser162=) | |
2 | g.202514912G>T | CA350338787 | BMPR2 | c.554G>T (p.Ser185Ile) c.485G>T (p.Ser162Ile) | dbSNP |
2 | g.202514913T>A | CA350338789 | BMPR2 | c.555T>A (p.Ser185Arg) c.486T>A (p.Ser162Arg) | |
2 | g.202514913T>C | CA430838550 | BMPR2 | c.555T>C (p.Ser185=) c.486T>C (p.Ser162=) | |
2 | g.202514913T>G | CA350338792 | BMPR2 | c.555T>G (p.Ser185Arg) c.486T>G (p.Ser162Arg) | |
2 | g.202514914A= | CA1321537854 | BMPR2 | c.556A= (p.Met186=) c.487A= (p.Met163=) | |
2 | g.202514914A>C | CA350338795 | BMPR2 | c.556A>C (p.Met186Leu) c.487A>C (p.Met163Leu) | |
2 | g.202514914A>G | CA350338798 | BMPR2 | c.556A>G (p.Met186Val) c.487A>G (p.Met163Val) | ClinVar dbSNP |
2 | g.202514914A>T | CA350338799 | BMPR2 | c.556A>T (p.Met186Leu) c.487A>T (p.Met163Leu) | |
2 | g.202514915T>A | CA350338804 | BMPR2 | c.557T>A (p.Met186Lys) c.488T>A (p.Met163Lys) | |
2 | g.202514915T>C | CA350338807 | BMPR2 | c.557T>C (p.Met186Thr) c.488T>C (p.Met163Thr) | |
2 | g.202514915T>G | CA350338802 | BMPR2 | c.557T>G (p.Met186Arg) c.488T>G (p.Met163Arg) | |
2 | g.202514916G>A | CA350338810 | BMPR2 | c.558G>A (p.Met186Ile) c.489G>A (p.Met163Ile) | |
2 | g.202514916G>C | CA350338813 | BMPR2 | c.558G>C (p.Met186Ile) c.489G>C (p.Met163Ile) | |
2 | g.202514916G>T | CA350338811 | BMPR2 | c.558G>T (p.Met186Ile) c.489G>T (p.Met163Ile) | COSMIC |
2 | g.202514917A>C | CA350338817 | BMPR2 | c.559A>C (p.Asn187His) c.490A>C (p.Asn164His) | |
2 | g.202514917A>G | CA350338818 | BMPR2 | c.559A>G (p.Asn187Asp) c.490A>G (p.Asn164Asp) | |
2 | g.202514917A>T | CA350338820 | BMPR2 | c.559A>T (p.Asn187Tyr) c.490A>T (p.Asn164Tyr) | |
2 | g.202514918A>C | CA350338823 | BMPR2 | c.560A>C (p.Asn187Thr) c.491A>C (p.Asn164Thr) | |
2 | g.202514918A>G | CA350338825 | BMPR2 | c.560A>G (p.Asn187Ser) c.491A>G (p.Asn164Ser) | |
2 | g.202514918A>T | CA350338827 | BMPR2 | c.560A>T (p.Asn187Ile) c.491A>T (p.Asn164Ile) | |
2 | g.202514919C>A | CA350338828 | BMPR2 | c.561C>A (p.Asn187Lys) c.492C>A (p.Asn164Lys) | |
2 | g.202514919C>G | CA350338831 | BMPR2 | c.561C>G (p.Asn187Lys) c.492C>G (p.Asn164Lys) | |
2 | g.202514919C>T | CA430838557 | BMPR2 | c.561C>T (p.Asn187=) c.492C>T (p.Asn164=) | |
2 | g.202514920A= | CA1321537855 | BMPR2 | c.562A= (p.Met188=) c.493A= (p.Met165=) | |
2 | g.202514920A>C | CA350338836 | BMPR2 | c.562A>C (p.Met188Leu) c.493A>C (p.Met165Leu) | |
2 | g.202514920A>G | CA350338837 | BMPR2 | c.562A>G (p.Met188Val) c.493A>G (p.Met165Val) | dbSNP |
2 | g.202514920A>T | CA350338840 | BMPR2 | c.562A>T (p.Met188Leu) c.493A>T (p.Met165Leu) | |
2 | g.202514921T>A | CA350338848 | BMPR2 | c.563T>A (p.Met188Lys) c.494T>A (p.Met165Lys) | gnomAD v4 |
2 | g.202514921T>C | CA2061148 | BMPR2 | c.563T>C (p.Met188Thr) c.494T>C (p.Met165Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514921T>G | CA350338843 | BMPR2 | c.563T>G (p.Met188Arg) c.494T>G (p.Met165Arg) | |
2 | g.202514921T= | CA1321537856 | BMPR2 | c.563T= (p.Met188=) c.494T= (p.Met165=) | |
2 | g.202514922G>A | CA350338852 | BMPR2 | c.564G>A (p.Met188Ile) c.495G>A (p.Met165Ile) | |
2 | g.202514922G>C | CA350338854 | BMPR2 | c.564G>C (p.Met188Ile) c.495G>C (p.Met165Ile) | |
2 | g.202514922G>T | CA350338857 | BMPR2 | c.564G>T (p.Met188Ile) c.495G>T (p.Met165Ile) | |
2 | g.202514923A>C | CA350338861 | BMPR2 | c.565A>C (p.Met189Leu) c.496A>C (p.Met166Leu) | |
2 | g.202514923A>G | CA350338864 | BMPR2 | c.565A>G (p.Met189Val) c.496A>G (p.Met166Val) | |
2 | g.202514923A>T | CA350338866 | BMPR2 | c.565A>T (p.Met189Leu) c.496A>T (p.Met166Leu) | |
2 | g.202514924T>A | CA2061149 | BMPR2 | c.566T>A (p.Met189Lys) c.497T>A (p.Met166Lys) | dbSNP ExAC gnomAD v2 |
2 | g.202514924T>C | CA350338874 | BMPR2 | c.566T>C (p.Met189Thr) c.497T>C (p.Met166Thr) | |
2 | g.202514924T>G | CA350338877 | BMPR2 | c.566T>G (p.Met189Arg) c.497T>G (p.Met166Arg) | gnomAD v4 |
2 | g.202514924T= | CA1321537857 | BMPR2 | c.566T= (p.Met189=) c.497T= (p.Met166=) | |
2 | g.202514925G>A | CA350338880 | BMPR2 | c.567G>A (p.Met189Ile) c.498G>A (p.Met166Ile) | |
2 | g.202514925G>C | CA350338882 | BMPR2 | c.567G>C (p.Met189Ile) c.498G>C (p.Met166Ile) | |
2 | g.202514925G>T | CA350338885 | BMPR2 | c.567G>T (p.Met189Ile) c.498G>T (p.Met166Ile) | |
2 | g.202514926G>A | CA350338892 | BMPR2 | c.568G>A (p.Glu190Lys) c.499G>A (p.Glu167Lys) | |
2 | g.202514926G>C | CA350338890 | BMPR2 | c.568G>C (p.Glu190Gln) c.499G>C (p.Glu167Gln) | |
2 | g.202514926G>T | CA350338888 | BMPR2 | c.568G>T (p.Glu190Ter) c.499G>T (p.Glu167Ter) | |
2 | g.202514927A>C | CA350338896 | BMPR2 | c.569A>C (p.Glu190Ala) c.500A>C (p.Glu167Ala) | |
2 | g.202514927A>G | CA350338899 | BMPR2 | c.569A>G (p.Glu190Gly) c.500A>G (p.Glu167Gly) | gnomAD v4 |
2 | g.202514927A>T | CA350338901 | BMPR2 | c.569A>T (p.Glu190Val) c.500A>T (p.Glu167Val) | |
2 | g.202514928G>A | CA430838561 | BMPR2 | c.570G>A (p.Glu190=) c.501G>A (p.Glu167=) | |
2 | g.202514928G>C | CA350338905 | BMPR2 | c.570G>C (p.Glu190Asp) c.501G>C (p.Glu167Asp) | |
2 | g.202514928G= | CA1321537858 | BMPR2 | c.570G= (p.Glu190=) c.501G= (p.Glu167=) | |
2 | g.202514928G>T | CA350338907 | BMPR2 | c.570G>T (p.Glu190Asp) c.501G>T (p.Glu167Asp) | |
2 | g.202514929G>A | CA2061151 | BMPR2 | c.571G>A (p.Ala191Thr) c.502G>A (p.Ala168Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202514929G>C | CA350338916 | BMPR2 | c.571G>C (p.Ala191Pro) c.502G>C (p.Ala168Pro) | |
2 | g.202514929G= | CA1321537859 | BMPR2 | c.571G= (p.Ala191=) c.502G= (p.Ala168=) | |
2 | g.202514929G>T | CA350338918 | BMPR2 | c.571G>T (p.Ala191Ser) c.502G>T (p.Ala168Ser) | |
2 | g.202514935_202514937dup | CA2061150 | BMPR2 | c.577_579dup (p.Ala193_Ser194insAla) c.508_510dup (p.Ala170_Ser171insAla) | dbSNP ExAC gnomAD v2 |
2 | g.202514930C>A | CA350338920 | BMPR2 | c.572C>A (p.Ala191Glu) c.503C>A (p.Ala168Glu) | |
2 | g.202514930C>G | CA350338923 | BMPR2 | c.572C>G (p.Ala191Gly) c.503C>G (p.Ala168Gly) | |
2 | g.202514930C>T | CA350338926 | BMPR2 | c.572C>T (p.Ala191Val) c.503C>T (p.Ala168Val) | |
2 | g.202514931A>C | CA430838565 | BMPR2 | c.573A>C (p.Ala191=) c.504A>C (p.Ala168=) | gnomAD v4 |
2 | g.202514931A>G | CA430838566 | BMPR2 | c.573A>G (p.Ala191=) c.504A>G (p.Ala168=) | gnomAD v4 |
2 | g.202514931A>T | CA430838567 | BMPR2 | c.573A>T (p.Ala191=) c.504A>T (p.Ala168=) | |
2 | g.202514932G>A | CA350338933 | BMPR2 | c.574G>A (p.Ala192Thr) c.505G>A (p.Ala169Thr) | |
2 | g.202514932G>C | CA350338931 | BMPR2 | c.574G>C (p.Ala192Pro) c.505G>C (p.Ala169Pro) | |
2 | g.202514932G>T | CA350338930 | BMPR2 | c.574G>T (p.Ala192Ser) c.505G>T (p.Ala169Ser) | |
2 | g.202514933C>A | CA350338938 | BMPR2 | c.575C>A (p.Ala192Glu) c.506C>A (p.Ala169Glu) | |
2 | g.202514933C>G | CA350338940 | BMPR2 | c.575C>G (p.Ala192Gly) c.506C>G (p.Ala169Gly) | gnomAD v4 |
2 | g.202514933C>T | CA350338943 | BMPR2 | c.575C>T (p.Ala192Val) c.506C>T (p.Ala169Val) | gnomAD v4 |
2 | g.202514934A= | CA1321537860 | BMPR2 | c.576A= (p.Ala192=) c.507A= (p.Ala169=) | |
2 | g.202514934A>C | CA430838569 | BMPR2 | c.576A>C (p.Ala192=) c.507A>C (p.Ala169=) | gnomAD v4 |
2 | g.202514934A>G | CA430838570 | BMPR2 | c.576A>G (p.Ala192=) c.507A>G (p.Ala169=) | dbSNP COSMIC |
2 | g.202514934A>T | CA430838571 | BMPR2 | c.576A>T (p.Ala192=) c.507A>T (p.Ala169=) | |
2 | g.202514935G>A | CA350338947 | BMPR2 | c.577G>A (p.Ala193Thr) c.508G>A (p.Ala170Thr) | gnomAD v4 |
2 | g.202514935G>C | CA350338950 | BMPR2 | c.577G>C (p.Ala193Pro) c.508G>C (p.Ala170Pro) | |
2 | g.202514935G>T | CA350338953 | BMPR2 | c.577G>T (p.Ala193Ser) c.508G>T (p.Ala170Ser) | |
2 | g.202514936C>A | CA350338956 | BMPR2 | c.578C>A (p.Ala193Glu) c.509C>A (p.Ala170Glu) | |
2 | g.202514936C>G | CA350338958 | BMPR2 | c.578C>G (p.Ala193Gly) c.509C>G (p.Ala170Gly) | gnomAD v4 |
2 | g.202514936C>T | CA350338960 | BMPR2 | c.578C>T (p.Ala193Val) c.509C>T (p.Ala170Val) | gnomAD v4 |
2 | g.202514937A>C | CA430838572 | BMPR2 | c.579A>C (p.Ala193=) c.510A>C (p.Ala170=) | |
2 | g.202514937A>G | CA430838573 | BMPR2 | c.579A>G (p.Ala193=) c.510A>G (p.Ala170=) | |
2 | g.202514937A>T | CA430838574 | BMPR2 | c.579A>T (p.Ala193=) c.510A>T (p.Ala170=) | |
2 | g.202514938T>A | CA350338964 | BMPR2 | c.580T>A (p.Ser194Thr) c.511T>A (p.Ser171Thr) | |
2 | g.202514938T>C | CA350338966 | BMPR2 | c.580T>C (p.Ser194Pro) c.511T>C (p.Ser171Pro) | |
2 | g.202514938T>G | CA350338969 | BMPR2 | c.580T>G (p.Ser194Ala) c.511T>G (p.Ser171Ala) | |
2 | g.202514939C>A | CA350338972 | BMPR2 | c.581C>A (p.Ser194Tyr) c.512C>A (p.Ser171Tyr) | |
2 | g.202514939C= | CA1321537861 | BMPR2 | c.581C= (p.Ser194=) c.512C= (p.Ser171=) | |
2 | g.202514939C>G | CA350338975 | BMPR2 | c.581C>G (p.Ser194Cys) c.512C>G (p.Ser171Cys) | dbSNP gnomAD v4 |
2 | g.202514939C>T | CA2061152 | BMPR2 | c.581C>T (p.Ser194Phe) c.512C>T (p.Ser171Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202514940C>A | CA430838579 | BMPR2 | c.582C>A (p.Ser194=) c.513C>A (p.Ser171=) | |
2 | g.202514940C= | CA1321537862 | BMPR2 | c.582C= (p.Ser194=) c.513C= (p.Ser171=) | |
2 | g.202514940C>G | CA430838578 | BMPR2 | c.582C>G (p.Ser194=) c.513C>G (p.Ser171=) | |
2 | g.202514940C>T | CA2061153 | BMPR2 | c.582C>T (p.Ser194=) c.513C>T (p.Ser171=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202514941G>A | CA2061154 | BMPR2 | c.583G>A (p.Glu195Lys) c.514G>A (p.Glu172Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.202514941G>C | CA350338983 | BMPR2 | c.583G>C (p.Glu195Gln) c.514G>C (p.Glu172Gln) | |
2 | g.202514941G= | CA1321537863 | BMPR2 | c.583G= (p.Glu195=) c.514G= (p.Glu172=) | |
2 | g.202514941G>T | CA130278 | BMPR2 | c.583G>T (p.Glu195Ter) c.514G>T (p.Glu172Ter) | ClinVar dbSNP |
2 | g.202514942A>C | CA350338990 | BMPR2 | c.584A>C (p.Glu195Ala) c.515A>C (p.Glu172Ala) | |
2 | g.202514942A>G | CA350338994 | BMPR2 | c.584A>G (p.Glu195Gly) c.515A>G (p.Glu172Gly) | |
2 | g.202514942A>T | CA350338993 | BMPR2 | c.584A>T (p.Glu195Val) c.515A>T (p.Glu172Val) | |
2 | g.202514943A>C | CA350338997 | BMPR2 | c.585A>C (p.Glu195Asp) c.516A>C (p.Glu172Asp) | gnomAD v4 |
2 | g.202514943A>G | CA430838583 | BMPR2 | c.585A>G (p.Glu195=) c.516A>G (p.Glu172=) | |
2 | g.202514943A>T | CA350338999 | BMPR2 | c.585A>T (p.Glu195Asp) c.516A>T (p.Glu172Asp) | |
2 | g.202514944C>A | CA350339003 | BMPR2 | c.586C>A (p.Pro196Thr) c.517C>A (p.Pro173Thr) | |
2 | g.202514944C>G | CA350339006 | BMPR2 | c.586C>G (p.Pro196Ala) c.517C>G (p.Pro173Ala) | |
2 | g.202514944C>T | CA350339007 | BMPR2 | c.586C>T (p.Pro196Ser) c.517C>T (p.Pro173Ser) | |
2 | g.202514945C>A | CA350339016 | BMPR2 | c.587C>A (p.Pro196His) c.518C>A (p.Pro173His) | |
2 | g.202514945C>G | CA350339018 | BMPR2 | c.587C>G (p.Pro196Arg) c.518C>G (p.Pro173Arg) | |
2 | g.202514945C>T | CA350339020 | BMPR2 | c.587C>T (p.Pro196Leu) c.518C>T (p.Pro173Leu) | |
2 | g.202514946C>A | CA430838584 | BMPR2 | c.588C>A (p.Pro196=) c.519C>A (p.Pro173=) | |
2 | g.202514946C>G | CA430838585 | BMPR2 | c.588C>G (p.Pro196=) c.519C>G (p.Pro173=) | |
2 | g.202514946C>T | CA430838586 | BMPR2 | c.588C>T (p.Pro196=) c.519C>T (p.Pro173=) | |
2 | g.202514947T>A | CA350339024 | BMPR2 | c.589T>A (p.Ser197Thr) c.520T>A (p.Ser174Thr) | |
2 | g.202514947T>C | CA350339028 | BMPR2 | c.589T>C (p.Ser197Pro) c.520T>C (p.Ser174Pro) | |
2 | g.202514947T>G | CA350339031 | BMPR2 | c.589T>G (p.Ser197Ala) c.520T>G (p.Ser174Ala) | |
2 | g.202514948C>A | CA350339036 | BMPR2 | c.590C>A (p.Ser197Tyr) c.521C>A (p.Ser174Tyr) | |
2 | g.202514948C= | CA1321537864 | BMPR2 | c.590C= (p.Ser197=) c.521C= (p.Ser174=) | |
2 | g.202514948C>G | CA350339034 | BMPR2 | c.590C>G (p.Ser197Cys) c.521C>G (p.Ser174Cys) | |
2 | g.202514948C>T | CA350339033 | BMPR2 | c.590C>T (p.Ser197Phe) c.521C>T (p.Ser174Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.202514949T>A | CA430838587 | BMPR2 | c.591T>A (p.Ser197=) c.522T>A (p.Ser174=) | |
2 | g.202514949T>C | CA430838588 | BMPR2 | c.591T>C (p.Ser197=) c.522T>C (p.Ser174=) | |
2 | g.202514949T>G | CA430838589 | BMPR2 | c.591T>G (p.Ser197=) c.522T>G (p.Ser174=) | |
2 | g.202514950C>A | CA350339039 | BMPR2 | c.592C>A (p.Leu198Ile) c.523C>A (p.Leu175Ile) | |
2 | g.202514950C>G | CA350339041 | BMPR2 | c.592C>G (p.Leu198Val) c.523C>G (p.Leu175Val) | |
2 | g.202514950C>T | CA350339043 | BMPR2 | c.592C>T (p.Leu198Phe) c.523C>T (p.Leu175Phe) | gnomAD v4 |
2 | g.202514951T>A | CA350339045 | BMPR2 | c.593T>A (p.Leu198His) c.524T>A (p.Leu175His) | |
2 | g.202514951T>C | CA350339047 | BMPR2 | c.593T>C (p.Leu198Pro) c.524T>C (p.Leu175Pro) | |
2 | g.202514951T>G | CA350339051 | BMPR2 | c.593T>G (p.Leu198Arg) c.524T>G (p.Leu175Arg) | |
2 | g.202514951_202514952del | CA2586971006 | BMPR2 | c.593_594del (p.Leu198ArgfsTer4) c.524_525del (p.Leu175ArgfsTer4) | |
2 | g.202514952T>A | CA430838590 | BMPR2 | c.594T>A (p.Leu198=) c.525T>A (p.Leu175=) | |
2 | g.202514952T>C | CA430838591 | BMPR2 | c.594T>C (p.Leu198=) c.525T>C (p.Leu175=) | |
2 | g.202514952T>G | CA430838592 | BMPR2 | c.594T>G (p.Leu198=) c.525T>G (p.Leu175=) | |
2 | g.202514953_202514955del | CA2838562531 | BMPR2 | c.595_597del (p.Asp199del) c.526_528del (p.Asp176del) | |
2 | g.202514953del | CA2739278545 | BMPR2 | c.595del (p.Asp199IlefsTer2) c.526del (p.Asp176IlefsTer2) | ClinVar |
2 | g.202514953G>A | CA350339053 | BMPR2 | c.595G>A (p.Asp199Asn) c.526G>A (p.Asp176Asn) | |
2 | g.202514953G>C | CA64012868 | BMPR2 | c.595G>C (p.Asp199His) c.526G>C (p.Asp176His) | dbSNP gnomAD v4 |
2 | g.202514953G= | CA1321537865 | BMPR2 | c.595G= (p.Asp199=) c.526G= (p.Asp176=) | |
2 | g.202514953G>T | CA350339056 | BMPR2 | c.595G>T (p.Asp199Tyr) c.526G>T (p.Asp176Tyr) | |
2 | g.202514954A>C | CA350339059 | BMPR2 | c.596A>C (p.Asp199Ala) c.527A>C (p.Asp176Ala) | |
2 | g.202514954A>G | CA350339062 | BMPR2 | c.596A>G (p.Asp199Gly) c.527A>G (p.Asp176Gly) | |
2 | g.202514954A>T | CA350339064 | BMPR2 | c.596A>T (p.Asp199Val) c.527A>T (p.Asp176Val) | |
2 | g.202514955T>A | CA350339068 | BMPR2 | c.597T>A (p.Asp199Glu) c.528T>A (p.Asp176Glu) | |
2 | g.202514955T>C | CA430838593 | BMPR2 | c.597T>C (p.Asp199=) c.528T>C (p.Asp176=) | |
2 | g.202514955T>G | CA350339069 | BMPR2 | c.597T>G (p.Asp199Glu) c.528T>G (p.Asp176Glu) | |
2 | g.202514956C>A | CA350339070 | BMPR2 | c.598C>A (p.Leu200Ile) c.529C>A (p.Leu177Ile) | |
2 | g.202514956C= | CA1321537866 | BMPR2 | c.598C= (p.Leu200=) c.529C= (p.Leu177=) | |
2 | g.202514956C>G | CA350339071 | BMPR2 | c.598C>G (p.Leu200Val) c.529C>G (p.Leu177Val) | dbSNP gnomAD v4 |
2 | g.202514956C>T | CA430838595 | BMPR2 | c.598C>T (p.Leu200=) c.529C>T (p.Leu177=) | |
2 | g.202514957T>A | CA350339072 | BMPR2 | c.599T>A (p.Leu200Gln) c.530T>A (p.Leu177Gln) | |
2 | g.202514957T>C | CA350339073 | BMPR2 | c.599T>C (p.Leu200Pro) c.530T>C (p.Leu177Pro) | |
2 | g.202514957T>G | CA350339075 | BMPR2 | c.599T>G (p.Leu200Arg) c.530T>G (p.Leu177Arg) | |
2 | g.202514958A= | CA1321537867 | BMPR2 | c.600A= (p.Leu200=) c.531A= (p.Leu177=) | |
2 | g.202514958A>C | CA175327 | BMPR2 | c.600A>C (p.Leu200=) c.531A>C (p.Leu177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514958A>G | CA430838596 | BMPR2 | c.600A>G (p.Leu200=) c.531A>G (p.Leu177=) | |
2 | g.202514958A>T | CA430838597 | BMPR2 | c.600A>T (p.Leu200=) c.531A>T (p.Leu177=) | gnomAD v4 |
2 | g.202514959G>A | CA350339081 | BMPR2 | c.601G>A (p.Asp201Asn) c.532G>A (p.Asp178Asn) | |
2 | g.202514959G>C | CA350339077 | BMPR2 | c.601G>C (p.Asp201His) c.532G>C (p.Asp178His) | |
2 | g.202514959G= | CA1321537868 | BMPR2 | c.601G= (p.Asp201=) c.532G= (p.Asp178=) | |
2 | g.202514959G>T | CA350339079 | BMPR2 | c.601G>T (p.Asp201Tyr) c.532G>T (p.Asp178Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514960A>C | CA350339085 | BMPR2 | c.602A>C (p.Asp201Ala) c.533A>C (p.Asp178Ala) | |
2 | g.202514960A>G | CA350339088 | BMPR2 | c.602A>G (p.Asp201Gly) c.533A>G (p.Asp178Gly) | |
2 | g.202514960A>T | CA350339090 | BMPR2 | c.602A>T (p.Asp201Val) c.533A>T (p.Asp178Val) | gnomAD v4 |
2 | g.202514961T>A | CA350339092 | BMPR2 | c.603T>A (p.Asp201Glu) c.534T>A (p.Asp178Glu) | |
2 | g.202514961T>C | CA430838598 | BMPR2 | c.603T>C (p.Asp201=) c.534T>C (p.Asp178=) | |
2 | g.202514961T>G | CA350339095 | BMPR2 | c.603T>G (p.Asp201Glu) c.534T>G (p.Asp178Glu) | |
2 | g.202514962A= | CA1321537869 | BMPR2 | c.604A= (p.Asn202=) c.535A= (p.Asn179=) | |
2 | g.202514962A>C | CA350339098 | BMPR2 | c.604A>C (p.Asn202His) c.535A>C (p.Asn179His) | |
2 | g.202514962A>G | CA350339102 | BMPR2 | c.604A>G (p.Asn202Asp) c.535A>G (p.Asn179Asp) | |
2 | g.202514962A>T | CA130275 | BMPR2 | c.604A>T (p.Asn202Tyr) c.535A>T (p.Asn179Tyr) | ClinVar dbSNP |
2 | g.202514963A>C | CA350339106 | BMPR2 | c.605A>C (p.Asn202Thr) c.536A>C (p.Asn179Thr) | |
2 | g.202514963A>G | CA350339110 | BMPR2 | c.605A>G (p.Asn202Ser) c.536A>G (p.Asn179Ser) | |
2 | g.202514963A>T | CA350339112 | BMPR2 | c.605A>T (p.Asn202Ile) c.536A>T (p.Asn179Ile) | |
2 | g.202514964T>A | CA350339115 | BMPR2 | c.606T>A (p.Asn202Lys) c.537T>A (p.Asn179Lys) | |
2 | g.202514964T>C | CA430838601 | BMPR2 | c.606T>C (p.Asn202=) c.537T>C (p.Asn179=) | |
2 | g.202514964T>G | CA350339117 | BMPR2 | c.606T>G (p.Asn202Lys) c.537T>G (p.Asn179Lys) | |
2 | g.202514965C>A | CA350339120 | BMPR2 | c.607C>A (p.Leu203Met) c.538C>A (p.Leu180Met) | gnomAD v4 |
2 | g.202514965C>G | CA350339123 | BMPR2 | c.607C>G (p.Leu203Val) c.538C>G (p.Leu180Val) | COSMIC |
2 | g.202514965C>T | CA430838602 | BMPR2 | c.607C>T (p.Leu203=) c.538C>T (p.Leu180=) | |
2 | g.202514965_202514967delinsCTG | CA1321537870 | BMPR2 | c.607_609delinsCTG (p.Leu203=) c.538_540delinsCTG (p.Leu180=) | |
2 | g.202514966T>A | CA350339125 | BMPR2 | c.608T>A (p.Leu203Gln) c.539T>A (p.Leu180Gln) | |
2 | g.202514966T>C | CA350339126 | BMPR2 | c.608T>C (p.Leu203Pro) c.539T>C (p.Leu180Pro) | |
2 | g.202514966T>G | CA350339129 | BMPR2 | c.608T>G (p.Leu203Arg) c.539T>G (p.Leu180Arg) | |
2 | g.202514966_202514967del | CA645293806 | BMPR2 | c.608_609del (p.Leu203GlnfsTer16) c.539_540del (p.Leu180GlnfsTer16) | ClinVar dbSNP |
2 | g.202514967G>A | CA430838603 | BMPR2 | c.609G>A (p.Leu203=) c.540G>A (p.Leu180=) | |
2 | g.202514967G>C | CA430838605 | BMPR2 | c.609G>C (p.Leu203=) c.540G>C (p.Leu180=) | |
2 | g.202514967G>T | CA430838604 | BMPR2 | c.609G>T (p.Leu203=) c.540G>T (p.Leu180=) | |
2 | g.202514967_202514968delinsGA | CA1321537871 | BMPR2 | c.609_610delinsGA (p.Leu203=) c.540_541delinsGA (p.Leu180=) | |
2 | g.202514968A>C | CA350339136 | BMPR2 | c.610A>C (p.Lys204Gln) c.541A>C (p.Lys181Gln) | gnomAD v4 |
2 | g.202514968A>G | CA350339135 | BMPR2 | c.610A>G (p.Lys204Glu) c.541A>G (p.Lys181Glu) | |
2 | g.202514968A>T | CA350339133 | BMPR2 | c.610A>T (p.Lys204Ter) c.541A>T (p.Lys181Ter) | ClinVar dbSNP |
2 | g.202514970del | CA645293807 | BMPR2 | c.612del (p.Lys204AsnfsTer5) c.543del (p.Lys181AsnfsTer5) | ClinVar dbSNP |
2 | g.202514969A>C | CA350339141 | BMPR2 | c.611A>C (p.Lys204Thr) c.542A>C (p.Lys181Thr) | |
2 | g.202514969A>G | CA350339145 | BMPR2 | c.611A>G (p.Lys204Arg) c.542A>G (p.Lys181Arg) | |
2 | g.202514969A>T | CA350339143 | BMPR2 | c.611A>T (p.Lys204Ile) c.542A>T (p.Lys181Ile) | |
2 | g.202514970A>C | CA350339147 | BMPR2 | c.612A>C (p.Lys204Asn) c.543A>C (p.Lys181Asn) | |
2 | g.202514970A>G | CA430838606 | BMPR2 | c.612A>G (p.Lys204=) c.543A>G (p.Lys181=) | |
2 | g.202514970A>T | CA350339149 | BMPR2 | c.612A>T (p.Lys204Asn) c.543A>T (p.Lys181Asn) | |
2 | g.202514971C>A | CA350339153 | BMPR2 | c.613C>A (p.Leu205Met) c.544C>A (p.Leu182Met) | |
2 | g.202514971C>G | CA350339154 | BMPR2 | c.613C>G (p.Leu205Val) c.544C>G (p.Leu182Val) | |
2 | g.202514971C>T | CA430838607 | BMPR2 | c.613C>T (p.Leu205=) c.544C>T (p.Leu182=) | |
2 | g.202514972T>A | CA350339158 | BMPR2 | c.614T>A (p.Leu205Gln) c.545T>A (p.Leu182Gln) | |
2 | g.202514972T>C | CA350339159 | BMPR2 | c.614T>C (p.Leu205Pro) c.545T>C (p.Leu182Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514972T>G | CA350339162 | BMPR2 | c.614T>G (p.Leu205Arg) c.545T>G (p.Leu182Arg) | |
2 | g.202514972T= | CA1321537872 | BMPR2 | c.614T= (p.Leu205=) c.545T= (p.Leu182=) | |
2 | g.202514973G>A | CA430838609 | BMPR2 | c.615G>A (p.Leu205=) c.546G>A (p.Leu182=) | dbSNP gnomAD v4 |
2 | g.202514973G>C | CA430838610 | BMPR2 | c.615G>C (p.Leu205=) c.546G>C (p.Leu182=) | ClinVar dbSNP gnomAD v4 |
2 | g.202514973G= | CA1321537873 | BMPR2 | c.615G= (p.Leu205=) c.546G= (p.Leu182=) | |
2 | g.202514973G>T | CA64012892 | BMPR2 | c.615G>T (p.Leu205=) c.546G>T (p.Leu182=) | ClinVar dbSNP gnomAD v4 |
2 | g.202514974T>A | CA350339164 | BMPR2 | c.616T>A (p.Leu206Met) c.547T>A (p.Leu183Met) | |
2 | g.202514974T>C | CA430838611 | BMPR2 | c.616T>C (p.Leu206=) c.547T>C (p.Leu183=) | |
2 | g.202514974T>G | CA350339166 | BMPR2 | c.616T>G (p.Leu206Val) c.547T>G (p.Leu183Val) | |
2 | g.202514975T>A | CA350339167 | BMPR2 | c.617T>A (p.Leu206Ter) c.548T>A (p.Leu183Ter) | ClinVar dbSNP |
2 | g.202514975T>C | CA350339168 | BMPR2 | c.617T>C (p.Leu206Ser) c.548T>C (p.Leu183Ser) | |
2 | g.202514975T>G | CA350339170 | BMPR2 | c.617T>G (p.Leu206Trp) c.548T>G (p.Leu183Trp) | |
2 | g.202514975T= | CA1321537874 | BMPR2 | c.617T= (p.Leu206=) c.548T= (p.Leu183=) | |
2 | g.202514976G>A | CA430838612 | BMPR2 | c.618G>A (p.Leu206=) c.549G>A (p.Leu183=) | |
2 | g.202514976G>C | CA350339173 | BMPR2 | c.618G>C (p.Leu206Phe) c.549G>C (p.Leu183Phe) | |
2 | g.202514976G>T | CA350339175 | BMPR2 | c.618G>T (p.Leu206Phe) c.549G>T (p.Leu183Phe) | |
2 | g.202514977dup | CA915941640 | BMPR2 | c.619dup (p.Glu207GlyfsTer13) c.550dup (p.Glu184GlyfsTer13) | ClinVar dbSNP |
2 | g.202514977G>A | CA2061155 | BMPR2 | c.619G>A (p.Glu207Lys) c.550G>A (p.Glu184Lys) | dbSNP ExAC gnomAD v2 |
2 | g.202514977G>C | CA350339181 | BMPR2 | c.619G>C (p.Glu207Gln) c.550G>C (p.Glu184Gln) | |
2 | g.202514977G= | CA1321537875 | BMPR2 | c.619G= (p.Glu207=) c.550G= (p.Glu184=) | |
2 | g.202514977G>T | CA350339183 | BMPR2 | c.619G>T (p.Glu207Ter) c.550G>T (p.Glu184Ter) | |
2 | g.202514978A= | CA1321537876 | BMPR2 | c.620A= (p.Glu207=) c.551A= (p.Glu184=) | |
2 | g.202514978A>C | CA350339187 | BMPR2 | c.620A>C (p.Glu207Ala) c.551A>C (p.Glu184Ala) | |
2 | g.202514978A>G | CA64012893 | BMPR2 | c.620A>G (p.Glu207Gly) c.551A>G (p.Glu184Gly) | dbSNP |
2 | g.202514978A>T | CA350339191 | BMPR2 | c.620A>T (p.Glu207Val) c.551A>T (p.Glu184Val) | |
2 | g.202514979G>A | CA430838613 | BMPR2 | c.621G>A (p.Glu207=) c.552G>A (p.Glu184=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514979G>C | CA350339193 | BMPR2 | c.621G>C (p.Glu207Asp) c.552G>C (p.Glu184Asp) | |
2 | g.202514979G= | CA1321537877 | BMPR2 | c.621G= (p.Glu207=) c.552G= (p.Glu184=) | |
2 | g.202514979G>T | CA350339195 | BMPR2 | c.621G>T (p.Glu207Asp) c.552G>T (p.Glu184Asp) | |
2 | g.202514980G>A | CA350339197 | BMPR2 | c.621+1G>A (n.621+1G>A) c.552+1G>A (n.552+1G>A) | ClinVar dbSNP |
2 | g.202514980G>C | CA350339199 | BMPR2 | c.621+1G>C (n.621+1G>C) c.552+1G>C (n.552+1G>C) | ClinVar dbSNP |
2 | g.202514980G= | CA1321537878 | BMPR2 | c.621+1G= (n.621+1G=) c.552+1G= (n.552+1G=) | |
2 | g.202514980G>T | CA350339202 | BMPR2 | c.621+1G>T (n.621+1G>T) c.552+1G>T (n.552+1G>T) | ClinVar dbSNP |
2 | g.202514981T>A | CA350339208 | BMPR2 | c.621+2T>A (n.621+2T>A) c.552+2T>A (n.552+2T>A) | |
2 | g.202514981T>C | CA350339209 | BMPR2 | c.621+2T>C (n.621+2T>C) c.552+2T>C (n.552+2T>C) | |
2 | g.202514981T>G | CA350339207 | BMPR2 | c.621+2T>G (n.621+2T>G) c.552+2T>G (n.552+2T>G) | |
2 | g.202514982A= | CA1321537879 | BMPR2 | c.621+3A= (n.621+3A=) c.552+3A= (n.552+3A=) | |
2 | g.202514982A>G | CA2061156 | BMPR2 | c.621+3A>G (n.621+3A>G) c.552+3A>G (n.552+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514983A= | CA1321537880 | BMPR2 | c.621+4A= (n.621+4A=) c.552+4A= (n.552+4A=) | |
2 | g.202514983A>C | CA2061157 | BMPR2 | c.621+4A>C (n.621+4A>C) c.552+4A>C (n.552+4A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514984G>A | CA1041339694 | BMPR2 | c.621+5G>A (n.621+5G>A) c.552+5G>A (n.552+5G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514984G= | CA1321537881 | BMPR2 | c.621+5G= (n.621+5G=) c.552+5G= (n.552+5G=) | |
2 | g.202514987del | CA2662705506 | BMPR2 | c.621+8del (n.621+8del) c.552+8del (n.552+8del) | gnomAD v4 |
2 | g.202514986T>G | CA2662705507 | BMPR2 | c.621+7T>G (n.621+7T>G) c.552+7T>G (n.552+7T>G) | gnomAD v4 |
2 | g.202514987T>C | CA2061158 | BMPR2 | c.621+8T>C (n.621+8T>C) c.552+8T>C (n.552+8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514987T= | CA1321537882 | BMPR2 | c.621+8T= (n.621+8T=) c.552+8T= (n.552+8T=) | |
2 | g.202514989C>A | CA2701465485 | BMPR2 | c.621+10C>A (n.621+10C>A) c.552+10C>A (n.552+10C>A) | dbSNP |
2 | g.202514990C>A | CA2662705508 | BMPR2 | c.621+11C>A (n.621+11C>A) c.552+11C>A (n.552+11C>A) | gnomAD v4 |
2 | g.202514990C= | CA1321537883 | BMPR2 | c.621+11C= (n.621+11C=) c.552+11C= (n.552+11C=) | |
2 | g.202514990C>G | CA2662705509 | BMPR2 | c.621+11C>G (n.621+11C>G) c.552+11C>G (n.552+11C>G) | gnomAD v4 |
2 | g.202514990C>T | CA2061159 | BMPR2 | c.621+11C>T (n.621+11C>T) c.552+11C>T (n.552+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514991G>A | CA2061160 | BMPR2 | c.621+12G>A (n.621+12G>A) c.552+12G>A (n.552+12G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514991G>C | CA2662705510 | BMPR2 | c.621+12G>C (n.621+12G>C) c.552+12G>C (n.552+12G>C) | gnomAD v4 |
2 | g.202514991G= | CA1321537884 | BMPR2 | c.621+12G= (n.621+12G=) c.552+12G= (n.552+12G=) | |
2 | g.202514991G>T | CA2662705511 | BMPR2 | c.621+12G>T (n.621+12G>T) c.552+12G>T (n.552+12G>T) | gnomAD v4 |
2 | g.202514994A= | CA1321537885 | BMPR2 | c.621+15A= (n.621+15A=) c.552+15A= (n.552+15A=) | |
2 | g.202514994A>G | CA2061161 | BMPR2 | c.621+15A>G (n.621+15A>G) c.552+15A>G (n.552+15A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202514996A>C | CA2662705512 | BMPR2 | c.621+17A>C (n.621+17A>C) c.552+17A>C (n.552+17A>C) | gnomAD v4 |
2 | g.202514996A>G | CA2662705513 | BMPR2 | c.621+17A>G (n.621+17A>G) c.552+17A>G (n.552+17A>G) | gnomAD v4 |
2 | g.202514998del | CA2577215572 | BMPR2 | c.621+19del (n.621+19del) c.552+19del (n.552+19del) | |
2 | g.202514998T>C | CA2753905538 | BMPR2 | c.621+19T>C (n.621+19T>C) c.552+19T>C (n.552+19T>C) | |
2 | g.202514998T>G | CA2577215573 | BMPR2 | c.621+19T>G (n.621+19T>G) c.552+19T>G (n.552+19T>G) | |
2 | g.202514999A= | CA1321537886 | BMPR2 | c.621+20A= (n.621+20A=) c.552+20A= (n.552+20A=) | |
2 | g.202514999A>G | CA2061162 | BMPR2 | c.621+20A>G (n.621+20A>G) c.552+20A>G (n.552+20A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202515001G>A | CA538970713 | BMPR2 | c.621+22G>A (n.621+22G>A) c.552+22G>A (n.552+22G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202515001G= | CA1321537887 | BMPR2 | c.621+22G= (n.621+22G=) c.552+22G= (n.552+22G=) | |
2 | g.202515002G>A | CA64012964 | BMPR2 | c.621+23G>A (n.621+23G>A) c.552+23G>A (n.552+23G>A) | dbSNP |
2 | g.202515002G= | CA1321537888 | BMPR2 | c.621+23G= (n.621+23G=) c.552+23G= (n.552+23G=) | |
2 | g.202515003A= | CA1321537889 | BMPR2 | c.621+24A= (n.621+24A=) c.552+24A= (n.552+24A=) | |
2 | g.202515003A>G | CA763423939 | BMPR2 | c.621+24A>G (n.621+24A>G) c.552+24A>G (n.552+24A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202515004C>A | CA2662705514 | BMPR2 | c.621+25C>A (n.621+25C>A) c.552+25C>A (n.552+25C>A) | gnomAD v4 |
2 | g.202515004C= | CA1321537891 | BMPR2 | c.621+25C= (n.621+25C=) c.552+25C= (n.552+25C=) | |
2 | g.202515004C>T | CA538970715 | BMPR2 | c.621+25C>T (n.621+25C>T) c.552+25C>T (n.552+25C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202515004_202515007delinsCTGT | CA1321537890 | BMPR2 | c.621+25_621+28delinsCTGT (n.621+25_621+28delinsCTGT) c.552+25_552+28delinsCTGT (n.552+25_552+28delinsCTGT) | |
2 | g.202515009_202515011del | CA2061163 | BMPR2 | c.621+30_621+32del (n.621+30_621+32del) c.552+30_552+32del (n.552+30_552+32del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202515006G>A | CA2061164 | BMPR2 | c.621+27G>A (n.621+27G>A) c.552+27G>A (n.552+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202515006G>C | CA2753905539 | BMPR2 | c.621+27G>C (n.621+27G>C) c.552+27G>C (n.552+27G>C) | |
2 | g.202515006G= | CA1321537892 | BMPR2 | c.621+27G= (n.621+27G=) c.552+27G= (n.552+27G=) | |
2 | g.202515006G>T | CA2662705515 | BMPR2 | c.621+27G>T (n.621+27G>T) c.552+27G>T (n.552+27G>T) | gnomAD v4 |