Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202515407_202524196del | CA915941641 | BMPR2 | c.621+428_967+3995del c.552+428_898+3995del | ClinVar |
2 | g.202519368_202523159del | CA915941649 | BMPR2 | c.852+316_967+2958del c.783+316_898+2958del | ClinVar |
2 | g.202520148C>A | CA350340810 | BMPR2 | c.914C>A (p.Ala305Asp) c.845C>A (p.Ala282Asp) | |
2 | g.202520148C= | CA1321540237 | BMPR2 | c.914C= (p.Ala305=) c.845C= (p.Ala282=) | |
2 | g.202520148C>G | CA350340811 | BMPR2 | c.914C>G (p.Ala305Gly) c.845C>G (p.Ala282Gly) | dbSNP |
2 | g.202520148C>T | CA2061248 | BMPR2 | c.914C>T (p.Ala305Val) c.845C>T (p.Ala282Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520149T>A | CA430840438 | BMPR2 | c.915T>A (p.Ala305=) c.846T>A (p.Ala282=) | |
2 | g.202520149T>C | CA430840439 | BMPR2 | c.915T>C (p.Ala305=) c.846T>C (p.Ala282=) | gnomAD v4 |
2 | g.202520149T>G | CA430840440 | BMPR2 | c.915T>G (p.Ala305=) c.846T>G (p.Ala282=) | |
2 | g.202520150C>A | CA350340814 | BMPR2 | c.916C>A (p.His306Asn) c.847C>A (p.His283Asn) | |
2 | g.202520150C>G | CA350340812 | BMPR2 | c.916C>G (p.His306Asp) c.847C>G (p.His283Asp) | |
2 | g.202520150C>T | CA350340813 | BMPR2 | c.916C>T (p.His306Tyr) c.847C>T (p.His283Tyr) | gnomAD v4 |
2 | g.202520151A= | CA1321540238 | BMPR2 | c.917A= (p.His306=) c.848A= (p.His283=) | |
2 | g.202520151A>C | CA350340815 | BMPR2 | c.917A>C (p.His306Pro) c.848A>C (p.His283Pro) | ClinVar dbSNP |
2 | g.202520151A>G | CA350340816 | BMPR2 | c.917A>G (p.His306Arg) c.848A>G (p.His283Arg) | |
2 | g.202520151A>T | CA350340817 | BMPR2 | c.917A>T (p.His306Leu) c.848A>T (p.His283Leu) | |
2 | g.202520152T>A | CA350340818 | BMPR2 | c.918T>A (p.His306Gln) c.849T>A (p.His283Gln) | |
2 | g.202520152T>C | CA2061249 | BMPR2 | c.918T>C (p.His306=) c.849T>C (p.His283=) | dbSNP ExAC gnomAD v4 |
2 | g.202520152T>G | CA350340819 | BMPR2 | c.918T>G (p.His306Gln) c.849T>G (p.His283Gln) | COSMIC |
2 | g.202520152T= | CA1321540239 | BMPR2 | c.918T= (p.His306=) c.849T= (p.His283=) | |
2 | g.202520152_202520155del | CA2586965546 | BMPR2 | c.918_921del (p.His306GlnfsTer28) c.849_852del (p.His283GlnfsTer28) | |
2 | g.202520153T>A | CA350340820 | BMPR2 | c.919T>A (p.Ser307Thr) c.850T>A (p.Ser284Thr) | |
2 | g.202520153T>C | CA350340821 | BMPR2 | c.919T>C (p.Ser307Pro) c.850T>C (p.Ser284Pro) | |
2 | g.202520153T>G | CA350340822 | BMPR2 | c.919T>G (p.Ser307Ala) c.850T>G (p.Ser284Ala) | |
2 | g.202520154C>A | CA350340823 | BMPR2 | c.920C>A (p.Ser307Tyr) c.851C>A (p.Ser284Tyr) | |
2 | g.202520154C>G | CA350340824 | BMPR2 | c.920C>G (p.Ser307Cys) c.851C>G (p.Ser284Cys) | |
2 | g.202520154C>T | CA350340825 | BMPR2 | c.920C>T (p.Ser307Phe) c.851C>T (p.Ser284Phe) | gnomAD v4 COSMIC |
2 | g.202520155T>A | CA430840441 | BMPR2 | c.921T>A (p.Ser307=) c.852T>A (p.Ser284=) | dbSNP gnomAD v2 |
2 | g.202520155T>C | CA430840442 | BMPR2 | c.921T>C (p.Ser307=) c.852T>C (p.Ser284=) | |
2 | g.202520155T>G | CA430840443 | BMPR2 | c.921T>G (p.Ser307=) c.852T>G (p.Ser284=) | |
2 | g.202520155T= | CA1321540240 | BMPR2 | c.921T= (p.Ser307=) c.852T= (p.Ser284=) | |
2 | g.202520156G>A | CA350340828 | BMPR2 | c.922G>A (p.Val308Ile) c.853G>A (p.Val285Ile) | gnomAD v4 |
2 | g.202520156G>C | CA350340827 | BMPR2 | c.922G>C (p.Val308Leu) c.853G>C (p.Val285Leu) | |
2 | g.202520156G>T | CA350340826 | BMPR2 | c.922G>T (p.Val308Phe) c.853G>T (p.Val285Phe) | |
2 | g.202520157T>A | CA350340831 | BMPR2 | c.923T>A (p.Val308Asp) c.854T>A (p.Val285Asp) | |
2 | g.202520157T>C | CA350340829 | BMPR2 | c.923T>C (p.Val308Ala) c.854T>C (p.Val285Ala) | |
2 | g.202520157T>G | CA350340830 | BMPR2 | c.923T>G (p.Val308Gly) c.854T>G (p.Val285Gly) | |
2 | g.202520158T>A | CA2061250 | BMPR2 | c.924T>A (p.Val308=) c.855T>A (p.Val285=) | dbSNP ExAC gnomAD v2 |
2 | g.202520158T>C | CA430840444 | BMPR2 | c.924T>C (p.Val308=) c.855T>C (p.Val285=) | |
2 | g.202520158T>G | CA430840445 | BMPR2 | c.924T>G (p.Val308=) c.855T>G (p.Val285=) | |
2 | g.202520158T= | CA1321540241 | BMPR2 | c.924T= (p.Val308=) c.855T= (p.Val285=) | |
2 | g.202520159A= | CA1321540242 | BMPR2 | c.925A= (p.Thr309=) c.856A= (p.Thr286=) | |
2 | g.202520159A>C | CA350340832 | BMPR2 | c.925A>C (p.Thr309Pro) c.856A>C (p.Thr286Pro) | |
2 | g.202520159A>G | CA2061251 | BMPR2 | c.925A>G (p.Thr309Ala) c.856A>G (p.Thr286Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202520159A>T | CA350340833 | BMPR2 | c.925A>T (p.Thr309Ser) c.856A>T (p.Thr286Ser) | |
2 | g.202520160C>A | CA350340834 | BMPR2 | c.926C>A (p.Thr309Asn) c.857C>A (p.Thr286Asn) | |
2 | g.202520160C>G | CA350340835 | BMPR2 | c.926C>G (p.Thr309Ser) c.857C>G (p.Thr286Ser) | |
2 | g.202520160C>T | CA350340836 | BMPR2 | c.926C>T (p.Thr309Ile) c.857C>T (p.Thr286Ile) | gnomAD v4 |
2 | g.202520161T>A | CA430840446 | BMPR2 | c.927T>A (p.Thr309=) c.858T>A (p.Thr286=) | |
2 | g.202520161T>C | CA430840447 | BMPR2 | c.927T>C (p.Thr309=) c.858T>C (p.Thr286=) | gnomAD v4 |
2 | g.202520161T>G | CA430840448 | BMPR2 | c.927T>G (p.Thr309=) c.858T>G (p.Thr286=) | |
2 | g.202520162A= | CA1321540243 | BMPR2 | c.928A= (p.Arg310=) c.859A= (p.Arg287=) | |
2 | g.202520162A>C | CA430840449 | BMPR2 | c.928A>C (p.Arg310=) c.859A>C (p.Arg287=) | |
2 | g.202520162A>G | CA350340837 | BMPR2 | c.928A>G (p.Arg310Gly) c.859A>G (p.Arg287Gly) | |
2 | g.202520162A>T | CA350340838 | BMPR2 | c.928A>T (p.Arg310Ter) c.859A>T (p.Arg287Ter) | ClinVar dbSNP |
2 | g.202520163G>A | CA350340839 | BMPR2 | c.929G>A (p.Arg310Lys) c.860G>A (p.Arg287Lys) | |
2 | g.202520163G>C | CA350340840 | BMPR2 | c.929G>C (p.Arg310Thr) c.860G>C (p.Arg287Thr) | |
2 | g.202520163G= | CA1321540244 | BMPR2 | c.929G= (p.Arg310=) c.860G= (p.Arg287=) | |
2 | g.202520163G>T | CA2061252 | BMPR2 | c.929G>T (p.Arg310Ile) c.860G>T (p.Arg287Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202520164A>C | CA350340842 | BMPR2 | c.930A>C (p.Arg310Ser) c.861A>C (p.Arg287Ser) | |
2 | g.202520164A>G | CA430840450 | BMPR2 | c.930A>G (p.Arg310=) c.861A>G (p.Arg287=) | |
2 | g.202520164A>T | CA350340841 | BMPR2 | c.930A>T (p.Arg310Ser) c.861A>T (p.Arg287Ser) | |
2 | g.202520165G>A | CA350340843 | BMPR2 | c.931G>A (p.Gly311Arg) c.862G>A (p.Gly288Arg) | COSMIC |
2 | g.202520165G>C | CA350340844 | BMPR2 | c.931G>C (p.Gly311Arg) c.862G>C (p.Gly288Arg) | |
2 | g.202520165G>T | CA350340845 | BMPR2 | c.931G>T (p.Gly311Ter) c.862G>T (p.Gly288Ter) | |
2 | g.202520166G>A | CA350340846 | BMPR2 | c.932G>A (p.Gly311Glu) c.863G>A (p.Gly288Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.202520166G>C | CA350340847 | BMPR2 | c.932G>C (p.Gly311Ala) c.863G>C (p.Gly288Ala) | |
2 | g.202520166G= | CA1321540245 | BMPR2 | c.932G= (p.Gly311=) c.863G= (p.Gly288=) | |
2 | g.202520166G>T | CA350340848 | BMPR2 | c.932G>T (p.Gly311Val) c.863G>T (p.Gly288Val) | |
2 | g.202520167A>C | CA430840452 | BMPR2 | c.933A>C (p.Gly311=) c.864A>C (p.Gly288=) | |
2 | g.202520167A>G | CA430840453 | BMPR2 | c.933A>G (p.Gly311=) c.864A>G (p.Gly288=) | |
2 | g.202520167A>T | CA430840451 | BMPR2 | c.933A>T (p.Gly311=) c.864A>T (p.Gly288=) | |
2 | g.202520168C>A | CA350340850 | BMPR2 | c.934C>A (p.Leu312Met) c.865C>A (p.Leu289Met) | COSMIC |
2 | g.202520168C>G | CA350340849 | BMPR2 | c.934C>G (p.Leu312Val) c.865C>G (p.Leu289Val) | |
2 | g.202520168C>T | CA430840454 | BMPR2 | c.934C>T (p.Leu312=) c.865C>T (p.Leu289=) | |
2 | g.202520169T>A | CA350340851 | BMPR2 | c.935T>A (p.Leu312Gln) c.866T>A (p.Leu289Gln) | |
2 | g.202520169T>C | CA350340852 | BMPR2 | c.935T>C (p.Leu312Pro) c.866T>C (p.Leu289Pro) | ClinVar dbSNP |
2 | g.202520169T>G | CA350340853 | BMPR2 | c.935T>G (p.Leu312Arg) c.866T>G (p.Leu289Arg) | |
2 | g.202520170G>A | CA430840457 | BMPR2 | c.936G>A (p.Leu312=) c.867G>A (p.Leu289=) | |
2 | g.202520170G>C | CA430840456 | BMPR2 | c.936G>C (p.Leu312=) c.867G>C (p.Leu289=) | |
2 | g.202520170G>T | CA430840455 | BMPR2 | c.936G>T (p.Leu312=) c.867G>T (p.Leu289=) | |
2 | g.202520171G>A | CA350340854 | BMPR2 | c.937G>A (p.Ala313Thr) c.868G>A (p.Ala290Thr) | |
2 | g.202520171G>C | CA350340855 | BMPR2 | c.937G>C (p.Ala313Pro) c.868G>C (p.Ala290Pro) | ClinVar dbSNP |
2 | g.202520171G= | CA1321540246 | BMPR2 | c.937G= (p.Ala313=) c.868G= (p.Ala290=) | |
2 | g.202520171G>T | CA350340856 | BMPR2 | c.937G>T (p.Ala313Ser) c.868G>T (p.Ala290Ser) | |
2 | g.202520172C>A | CA350340857 | BMPR2 | c.938C>A (p.Ala313Asp) c.869C>A (p.Ala290Asp) | |
2 | g.202520172C>G | CA350340859 | BMPR2 | c.938C>G (p.Ala313Gly) c.869C>G (p.Ala290Gly) | |
2 | g.202520172C>T | CA350340858 | BMPR2 | c.938C>T (p.Ala313Val) c.869C>T (p.Ala290Val) | |
2 | g.202520173T>A | CA430840460 | BMPR2 | c.939T>A (p.Ala313=) c.870T>A (p.Ala290=) | |
2 | g.202520173T>C | CA430840458 | BMPR2 | c.939T>C (p.Ala313=) c.870T>C (p.Ala290=) | |
2 | g.202520173T>G | CA430840459 | BMPR2 | c.939T>G (p.Ala313=) c.870T>G (p.Ala290=) | |
2 | g.202520174dup | CA645532631 | BMPR2 | c.940dup (p.Tyr314LeufsTer13) c.871dup (p.Tyr291LeufsTer13) | COSMIC |
2 | g.202520174T>A | CA350340860 | BMPR2 | c.940T>A (p.Tyr314Asn) c.871T>A (p.Tyr291Asn) | |
2 | g.202520174T>C | CA350340861 | BMPR2 | c.940T>C (p.Tyr314His) c.871T>C (p.Tyr291His) | |
2 | g.202520174T>G | CA350340862 | BMPR2 | c.940T>G (p.Tyr314Asp) c.871T>G (p.Tyr291Asp) | |
2 | g.202520175A>C | CA350340863 | BMPR2 | c.941A>C (p.Tyr314Ser) c.872A>C (p.Tyr291Ser) | |
2 | g.202520175A>G | CA350340864 | BMPR2 | c.941A>G (p.Tyr314Cys) c.872A>G (p.Tyr291Cys) | |
2 | g.202520175A>T | CA350340865 | BMPR2 | c.941A>T (p.Tyr314Phe) c.872A>T (p.Tyr291Phe) | |
2 | g.202520176T>A | CA350340867 | BMPR2 | c.942T>A (p.Tyr314Ter) c.873T>A (p.Tyr291Ter) | |
2 | g.202520176T>C | CA430840462 | BMPR2 | c.942T>C (p.Tyr314=) c.873T>C (p.Tyr291=) | |
2 | g.202520176T>G | CA350340866 | BMPR2 | c.942T>G (p.Tyr314Ter) c.873T>G (p.Tyr291Ter) | |
2 | g.202520176dup | CA430840461 | BMPR2 | c.942dup (p.Leu315SerfsTer12) c.873dup (p.Leu292SerfsTer12) | |
2 | g.202520176_202520177insA | CA2586965548 | BMPR2 | c.942_943insA (p.Leu315ThrfsTer12) c.873_874insA (p.Leu292ThrfsTer12) | |
2 | g.202520177C>A | CA350340868 | BMPR2 | c.943C>A (p.Leu315Ile) c.874C>A (p.Leu292Ile) | |
2 | g.202520177C>G | CA350340869 | BMPR2 | c.943C>G (p.Leu315Val) c.874C>G (p.Leu292Val) | |
2 | g.202520177C>T | CA350340870 | BMPR2 | c.943C>T (p.Leu315Phe) c.874C>T (p.Leu292Phe) | gnomAD v4 |
2 | g.202520178T>A | CA350340871 | BMPR2 | c.944T>A (p.Leu315His) c.875T>A (p.Leu292His) | |
2 | g.202520178T>C | CA350340872 | BMPR2 | c.944T>C (p.Leu315Pro) c.875T>C (p.Leu292Pro) | |
2 | g.202520178T>G | CA350340873 | BMPR2 | c.944T>G (p.Leu315Arg) c.875T>G (p.Leu292Arg) | |
2 | g.202520179T>A | CA430840463 | BMPR2 | c.945T>A (p.Leu315=) c.876T>A (p.Leu292=) | |
2 | g.202520179T>C | CA430840464 | BMPR2 | c.945T>C (p.Leu315=) c.876T>C (p.Leu292=) | |
2 | g.202520179T>G | CA430840465 | BMPR2 | c.945T>G (p.Leu315=) c.876T>G (p.Leu292=) | |
2 | g.202520180C>A | CA350340874 | BMPR2 | c.946C>A (p.His316Asn) c.877C>A (p.His293Asn) | |
2 | g.202520180C>G | CA350340876 | BMPR2 | c.946C>G (p.His316Asp) c.877C>G (p.His293Asp) | |
2 | g.202520180C>T | CA350340875 | BMPR2 | c.946C>T (p.His316Tyr) c.877C>T (p.His293Tyr) | |
2 | g.202520181A>C | CA350340877 | BMPR2 | c.947A>C (p.His316Pro) c.878A>C (p.His293Pro) | |
2 | g.202520181A>G | CA350340878 | BMPR2 | c.947A>G (p.His316Arg) c.878A>G (p.His293Arg) | ClinVar dbSNP |
2 | g.202520181A>T | CA350340879 | BMPR2 | c.947A>T (p.His316Leu) c.878A>T (p.His293Leu) | |
2 | g.202520182C>A | CA350340880 | BMPR2 | c.948C>A (p.His316Gln) c.879C>A (p.His293Gln) | |
2 | g.202520182C= | CA1321540247 | BMPR2 | c.948C= (p.His316=) c.879C= (p.His293=) | |
2 | g.202520182C>G | CA350340881 | BMPR2 | c.948C>G (p.His316Gln) c.879C>G (p.His293Gln) | gnomAD v4 |
2 | g.202520182C>T | CA430840466 | BMPR2 | c.948C>T (p.His316=) c.879C>T (p.His293=) | dbSNP |
2 | g.202520183A= | CA1321540248 | BMPR2 | c.949A= (p.Thr317=) c.880A= (p.Thr294=) | |
2 | g.202520183A>C | CA350340882 | BMPR2 | c.949A>C (p.Thr317Pro) c.880A>C (p.Thr294Pro) | |
2 | g.202520183A>G | CA350340883 | BMPR2 | c.949A>G (p.Thr317Ala) c.880A>G (p.Thr294Ala) | dbSNP |
2 | g.202520183A>T | CA350340884 | BMPR2 | c.949A>T (p.Thr317Ser) c.880A>T (p.Thr294Ser) | dbSNP |
2 | g.202520183_202520184insG | CA2586965549 | BMPR2 | c.949_950insG (p.Thr317SerfsTer10) c.880_881insG (p.Thr294SerfsTer10) | |
2 | g.202520184C>A | CA350340885 | BMPR2 | c.950C>A (p.Thr317Lys) c.881C>A (p.Thr294Lys) | |
2 | g.202520184C>G | CA350340886 | BMPR2 | c.950C>G (p.Thr317Arg) c.881C>G (p.Thr294Arg) | |
2 | g.202520184C>T | CA350340887 | BMPR2 | c.950C>T (p.Thr317Ile) c.881C>T (p.Thr294Ile) | |
2 | g.202520185A>C | CA430840468 | BMPR2 | c.951A>C (p.Thr317=) c.882A>C (p.Thr294=) | |
2 | g.202520185A>G | CA430840469 | BMPR2 | c.951A>G (p.Thr317=) c.882A>G (p.Thr294=) | gnomAD v4 |
2 | g.202520185A>T | CA430840471 | BMPR2 | c.951A>T (p.Thr317=) c.882A>T (p.Thr294=) | |
2 | g.202520186G>A | CA350340889 | BMPR2 | c.952G>A (p.Glu318Lys) c.883G>A (p.Glu295Lys) | |
2 | g.202520186G>C | CA350340890 | BMPR2 | c.952G>C (p.Glu318Gln) c.883G>C (p.Glu295Gln) | dbSNP |
2 | g.202520186G= | CA1321540249 | BMPR2 | c.952G= (p.Glu318=) c.883G= (p.Glu295=) | |
2 | g.202520186G>T | CA350340888 | BMPR2 | c.952G>T (p.Glu318Ter) c.883G>T (p.Glu295Ter) | |
2 | g.202520187A>C | CA350340891 | BMPR2 | c.953A>C (p.Glu318Ala) c.884A>C (p.Glu295Ala) | |
2 | g.202520187A>G | CA350340893 | BMPR2 | c.953A>G (p.Glu318Gly) c.884A>G (p.Glu295Gly) | |
2 | g.202520187A>T | CA350340892 | BMPR2 | c.953A>T (p.Glu318Val) c.884A>T (p.Glu295Val) | |
2 | g.202520188A= | CA1321540251 | BMPR2 | c.954A= (p.Glu318=) c.885A= (p.Glu295=) | |
2 | g.202520188A>C | CA350340894 | BMPR2 | c.954A>C (p.Glu318Asp) c.885A>C (p.Glu295Asp) | ClinVar dbSNP |
2 | g.202520188A>G | CA64016822 | BMPR2 | c.954A>G (p.Glu318=) c.885A>G (p.Glu295=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202520188A>T | CA350340895 | BMPR2 | c.954A>T (p.Glu318Asp) c.885A>T (p.Glu295Asp) | |
2 | g.202520188_202520189delinsAT | CA1321540250 | BMPR2 | c.954_955delinsAT (p.Glu318=) c.885_886delinsAT (p.Glu295=) | |
2 | g.202520189T>A | CA350340896 | BMPR2 | c.955T>A (p.Leu319Ile) c.886T>A (p.Leu296Ile) | |
2 | g.202520189T>C | CA430840473 | BMPR2 | c.955T>C (p.Leu319=) c.886T>C (p.Leu296=) | |
2 | g.202520189T>G | CA350340897 | BMPR2 | c.955T>G (p.Leu319Val) c.886T>G (p.Leu296Val) | |
2 | g.202520190del | CA916754180 | BMPR2 | c.956del (p.Leu319TyrfsTer16) c.887del (p.Leu296TyrfsTer16) | dbSNP |
2 | g.202520190T>A | CA350340898 | BMPR2 | c.956T>A (p.Leu319Ter) c.887T>A (p.Leu296Ter) | |
2 | g.202520190T>C | CA350340899 | BMPR2 | c.956T>C (p.Leu319Ser) c.887T>C (p.Leu296Ser) | |
2 | g.202520190T>G | CA350340900 | BMPR2 | c.956T>G (p.Leu319Ter) c.887T>G (p.Leu296Ter) | |
2 | g.202520191A>C | CA350340901 | BMPR2 | c.957A>C (p.Leu319Phe) c.888A>C (p.Leu296Phe) | |
2 | g.202520191A>G | CA430840474 | BMPR2 | c.957A>G (p.Leu319=) c.888A>G (p.Leu296=) | |
2 | g.202520191A>T | CA350340902 | BMPR2 | c.957A>T (p.Leu319Phe) c.888A>T (p.Leu296Phe) | |
2 | g.202520192C>A | CA350340903 | BMPR2 | c.958C>A (p.Pro320Thr) c.889C>A (p.Pro297Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520192C= | CA1321540252 | BMPR2 | c.958C= (p.Pro320=) c.889C= (p.Pro297=) | |
2 | g.202520192C>G | CA350340904 | BMPR2 | c.958C>G (p.Pro320Ala) c.889C>G (p.Pro297Ala) | |
2 | g.202520192C>T | CA350340905 | BMPR2 | c.958C>T (p.Pro320Ser) c.889C>T (p.Pro297Ser) | |
2 | g.202520193del | CA2577215616 | BMPR2 | c.959del (p.Pro320HisfsTer15) c.890del (p.Pro297HisfsTer15) | |
2 | g.202520193C>A | CA350340908 | BMPR2 | c.959C>A (p.Pro320Gln) c.890C>A (p.Pro297Gln) | |
2 | g.202520193C>G | CA350340907 | BMPR2 | c.959C>G (p.Pro320Arg) c.890C>G (p.Pro297Arg) | |
2 | g.202520193C>T | CA350340906 | BMPR2 | c.959C>T (p.Pro320Leu) c.890C>T (p.Pro297Leu) | |
2 | g.202520194A>C | CA430840475 | BMPR2 | c.960A>C (p.Pro320=) c.891A>C (p.Pro297=) | |
2 | g.202520194A>G | CA430840477 | BMPR2 | c.960A>G (p.Pro320=) c.891A>G (p.Pro297=) | gnomAD v4 |
2 | g.202520194A>T | CA430840476 | BMPR2 | c.960A>T (p.Pro320=) c.891A>T (p.Pro297=) | |
2 | g.202520194_202520195delinsAC | CA1321540253 | BMPR2 | c.960_961delinsAC (p.Pro320=) c.891_892delinsAC (p.Pro297=) | |
2 | g.202520195_202520197dup | CA2499215574 | BMPR2 | c.961_963dup (p.Arg321_Gly322insArg) c.892_894dup (p.Arg298_Gly299insArg) | ClinVar dbSNP |
2 | g.202520195del | CA645293984 | BMPR2 | c.961del (p.Arg321GlufsTer14) c.892del (p.Arg298GlufsTer14) | ClinVar dbSNP |
2 | g.202520195C>A | CA430840478 | BMPR2 | c.961C>A (p.Arg321=) c.892C>A (p.Arg298=) | |
2 | g.202520195C= | CA1321540254 | BMPR2 | c.961C= (p.Arg321=) c.892C= (p.Arg298=) | |
2 | g.202520195C>G | CA350340909 | BMPR2 | c.961C>G (p.Arg321Gly) c.892C>G (p.Arg298Gly) | |
2 | g.202520195C>T | CA16610660 | BMPR2 | c.961C>T (p.Arg321Ter) c.892C>T (p.Arg298Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.202520196G>A | CA2061253 | BMPR2 | c.962G>A (p.Arg321Gln) c.893G>A (p.Arg298Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520196G>C | CA350340910 | BMPR2 | c.962G>C (p.Arg321Pro) c.893G>C (p.Arg298Pro) | |
2 | g.202520196G= | CA1321540255 | BMPR2 | c.962G= (p.Arg321=) c.893G= (p.Arg298=) | |
2 | g.202520196G>T | CA350340911 | BMPR2 | c.962G>T (p.Arg321Leu) c.893G>T (p.Arg298Leu) | |
2 | g.202520197A= | CA1321540256 | BMPR2 | c.963A= (p.Arg321=) c.894A= (p.Arg298=) | |
2 | g.202520197A>C | CA64016830 | BMPR2 | c.963A>C (p.Arg321=) c.894A>C (p.Arg298=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520197A>G | CA430840479 | BMPR2 | c.963A>G (p.Arg321=) c.894A>G (p.Arg298=) | |
2 | g.202520197A>T | CA430840480 | BMPR2 | c.963A>T (p.Arg321=) c.894A>T (p.Arg298=) | |
2 | g.202520198G>A | CA350340912 | BMPR2 | c.964G>A (p.Gly322Arg) c.895G>A (p.Gly299Arg) | gnomAD v4 |
2 | g.202520198G>C | CA350340913 | BMPR2 | c.964G>C (p.Gly322Arg) c.895G>C (p.Gly299Arg) | |
2 | g.202520198G>T | CA350340914 | BMPR2 | c.964G>T (p.Gly322Ter) c.895G>T (p.Gly299Ter) | |
2 | g.202520199G>A | CA350340915 | BMPR2 | c.965G>A (p.Gly322Glu) c.896G>A (p.Gly299Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520199G>C | CA350340916 | BMPR2 | c.965G>C (p.Gly322Ala) c.896G>C (p.Gly299Ala) | |
2 | g.202520199G= | CA1321540257 | BMPR2 | c.965G= (p.Gly322=) c.896G= (p.Gly299=) | |
2 | g.202520199G>T | CA350340917 | BMPR2 | c.965G>T (p.Gly322Val) c.896G>T (p.Gly299Val) | |
2 | g.202520200A>C | CA430840481 | BMPR2 | c.966A>C (p.Gly322=) c.897A>C (p.Gly299=) | |
2 | g.202520200A>G | CA430840482 | BMPR2 | c.966A>G (p.Gly322=) c.897A>G (p.Gly299=) | |
2 | g.202520200A>T | CA430840483 | BMPR2 | c.966A>T (p.Gly322=) c.897A>T (p.Gly299=) | |
2 | g.202520201G>A | CA350340919 | BMPR2 | c.967G>A (p.Asp323Asn) c.898G>A (p.Asp300Asn) | ClinVar dbSNP |
2 | g.202520201G>C | CA350340920 | BMPR2 | c.967G>C (p.Asp323His) c.898G>C (p.Asp300His) | |
2 | g.202520201G>T | CA350340918 | BMPR2 | c.967G>T (p.Asp323Tyr) c.898G>T (p.Asp300Tyr) | |
2 | g.202520201_202520202insA | CA658761119 | BMPR2 | c.967_967+1insA (n.967_967+1insA) c.898_898+1insA (n.898_898+1insA) | |
2 | g.202520202G>A | CA350340921 | BMPR2 | c.967+1G>A (n.967+1G>A) c.898+1G>A (n.898+1G>A) | |
2 | g.202520202G>C | CA350340922 | BMPR2 | c.967+1G>C (n.967+1G>C) c.898+1G>C (n.898+1G>C) | |
2 | g.202520202G>T | CA350340923 | BMPR2 | c.967+1G>T (n.967+1G>T) c.898+1G>T (n.898+1G>T) | |
2 | g.202520203del | CA2662705996 | BMPR2 | c.967+2del (n.967+2del) c.898+2del (n.898+2del) | gnomAD v4 |
2 | g.202520203T>A | CA350340924 | BMPR2 | c.967+2T>A (n.967+2T>A) c.898+2T>A (n.898+2T>A) | |
2 | g.202520203T>C | CA350340925 | BMPR2 | c.967+2T>C (n.967+2T>C) c.898+2T>C (n.898+2T>C) | ClinVar dbSNP |
2 | g.202520203T>G | CA350340926 | BMPR2 | c.967+2T>G (n.967+2T>G) c.898+2T>G (n.898+2T>G) | |
2 | g.202520203T= | CA1321540258 | BMPR2 | c.967+2T= (n.967+2T=) c.898+2T= (n.898+2T=) | |
2 | g.202520203_202520204delinsTA | CA1321540259 | BMPR2 | c.967+2_967+3delinsTA (n.967+2_967+3delinsTA) c.898+2_898+3delinsTA (n.898+2_898+3delinsTA) | |
2 | g.202520205del | CA645293985 | BMPR2 | c.967+4del (n.967+4del) c.898+4del (n.898+4del) | ClinVar dbSNP |
2 | g.202520206G>A | CA2586965551 | BMPR2 | c.967+5G>A (n.967+5G>A) c.898+5G>A (n.898+5G>A) | |
2 | g.202520206G>C | CA645293987 | BMPR2 | c.967+5G>C (n.967+5G>C) c.898+5G>C (n.898+5G>C) | ClinVar dbSNP |
2 | g.202520206G= | CA1321540260 | BMPR2 | c.967+5G= (n.967+5G=) c.898+5G= (n.898+5G=) | |
2 | g.202520206G>T | CA645293986 | BMPR2 | c.967+5G>T (n.967+5G>T) c.898+5G>T (n.898+5G>T) | ClinVar dbSNP |
2 | g.202520207A>G | CA2662705997 | BMPR2 | c.967+6A>G (n.967+6A>G) c.898+6A>G (n.898+6A>G) | gnomAD v4 |
2 | g.202520208del | CA2577215617 | BMPR2 | c.967+7del (n.967+7del) c.898+7del (n.898+7del) | |
2 | g.202520209A>G | CA2662705999 | BMPR2 | c.967+8A>G (n.967+8A>G) c.898+8A>G (n.898+8A>G) | gnomAD v4 |
2 | g.202520210G>A | CA2662706000 | BMPR2 | c.967+9G>A (n.967+9G>A) c.898+9G>A (n.898+9G>A) | gnomAD v4 |
2 | g.202520211T>C | CA2662706002 | BMPR2 | c.967+10T>C (n.967+10T>C) c.898+10T>C (n.898+10T>C) | gnomAD v4 |
2 | g.202520212C>A | CA2662706004 | BMPR2 | c.967+11C>A (n.967+11C>A) c.898+11C>A (n.898+11C>A) | gnomAD v4 |
2 | g.202520214A= | CA1321540261 | BMPR2 | c.967+13A= (n.967+13A=) c.898+13A= (n.898+13A=) | |
2 | g.202520214A>C | CA1321540262 | BMPR2 | c.967+13A>C (n.967+13A>C) c.898+13A>C (n.898+13A>C) | dbSNP |
2 | g.202520214A>G | CA2061254 | BMPR2 | c.967+13A>G (n.967+13A>G) c.898+13A>G (n.898+13A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520215T>C | CA2662706007 | BMPR2 | c.967+14T>C (n.967+14T>C) c.898+14T>C (n.898+14T>C) | gnomAD v4 |
2 | g.202520215_202520216insTTCATCTATTG | CA2662706009 | BMPR2 | c.967+14_967+15insTTCATCTATTG (n.967+14_967+15insTTCATCTATTG) c.898+14_898+15insTTCATCTATTG (n.898+14_898+15insTTCATCTATTG) | gnomAD v4 |
2 | g.202520216A>C | CA2753905648 | BMPR2 | c.967+15A>C (n.967+15A>C) c.898+15A>C (n.898+15A>C) | |
2 | g.202520218A>C | CA2568013607 | BMPR2 | c.967+17A>C (n.967+17A>C) c.898+17A>C (n.898+17A>C) | ClinVar dbSNP |
2 | g.202520220G>C | CA1321540264 | BMPR2 | c.967+19G>C (n.967+19G>C) c.898+19G>C (n.898+19G>C) | dbSNP |
2 | g.202520220G= | CA1321540263 | BMPR2 | c.967+19G= (n.967+19G=) c.898+19G= (n.898+19G=) | |
2 | g.202520222A>C | CA2662706010 | BMPR2 | c.967+21A>C (n.967+21A>C) c.898+21A>C (n.898+21A>C) | gnomAD v4 |
2 | g.202520223A>G | CA2662706012 | BMPR2 | c.967+22A>G (n.967+22A>G) c.898+22A>G (n.898+22A>G) | gnomAD v4 |
2 | g.202520223A>T | CA2577215618 | BMPR2 | c.967+22A>T (n.967+22A>T) c.898+22A>T (n.898+22A>T) | |
2 | g.202520224T>C | CA763427582 | BMPR2 | c.967+23T>C (n.967+23T>C) c.898+23T>C (n.898+23T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520224T= | CA1321540265 | BMPR2 | c.967+23T= (n.967+23T=) c.898+23T= (n.898+23T=) | |
2 | g.202520225T>G | CA1321540267 | BMPR2 | c.967+24T>G (n.967+24T>G) c.898+24T>G (n.898+24T>G) | dbSNP |
2 | g.202520225T= | CA1321540266 | BMPR2 | c.967+24T= (n.967+24T=) c.898+24T= (n.898+24T=) | |
2 | g.202520226G>A | CA1321540269 | BMPR2 | c.967+25G>A (n.967+25G>A) c.898+25G>A (n.898+25G>A) | dbSNP |
2 | g.202520226G= | CA1321540268 | BMPR2 | c.967+25G= (n.967+25G=) c.898+25G= (n.898+25G=) | |
2 | g.202520227A>G | CA2662706014 | BMPR2 | c.967+26A>G (n.967+26A>G) c.898+26A>G (n.898+26A>G) | gnomAD v4 |
2 | g.202520228C>A | CA2577215619 | BMPR2 | c.967+27C>A (n.967+27C>A) c.898+27C>A (n.898+27C>A) | |
2 | g.202520228C= | CA1321540270 | BMPR2 | c.967+27C= (n.967+27C=) c.898+27C= (n.898+27C=) | |
2 | g.202520228C>T | CA763427584 | BMPR2 | c.967+27C>T (n.967+27C>T) c.898+27C>T (n.898+27C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520228_202520230dup | CA2662706016 | BMPR2 | c.967+27_967+29dup (n.967+27_967+29dup) c.898+27_898+29dup (n.898+27_898+29dup) | gnomAD v4 |
2 | g.202520229A= | CA1321540271 | BMPR2 | c.967+28A= (n.967+28A=) c.898+28A= (n.898+28A=) | |
2 | g.202520229A>C | CA2662706021 | BMPR2 | c.967+28A>C (n.967+28A>C) c.898+28A>C (n.898+28A>C) | gnomAD v4 |
2 | g.202520229A>G | CA2061255 | BMPR2 | c.967+28A>G (n.967+28A>G) c.898+28A>G (n.898+28A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520230C>A | CA2577215620 | BMPR2 | c.967+29C>A (n.967+29C>A) c.898+29C>A (n.898+29C>A) | gnomAD v4 |
2 | g.202520230C= | CA1321540272 | BMPR2 | c.967+29C= (n.967+29C=) c.898+29C= (n.898+29C=) | |
2 | g.202520230C>T | CA763427585 | BMPR2 | c.967+29C>T (n.967+29C>T) c.898+29C>T (n.898+29C>T) | dbSNP |
2 | g.202520231T>C | CA539387001 | BMPR2 | c.967+30T>C (n.967+30T>C) c.898+30T>C (n.898+30T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202520231T= | CA1321540273 | BMPR2 | c.967+30T= (n.967+30T=) c.898+30T= (n.898+30T=) | |
2 | g.202520232C>A | CA2577215621 | BMPR2 | c.967+31C>A (n.967+31C>A) c.898+31C>A (n.898+31C>A) | gnomAD v4 |
2 | g.202520232C= | CA1321540275 | BMPR2 | c.967+31C= (n.967+31C=) c.898+31C= (n.898+31C=) | |
2 | g.202520232C>G | CA2061257 | BMPR2 | c.967+31C>G (n.967+31C>G) c.898+31C>G (n.898+31C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520232_202520234delinsCAT | CA1321540274 | BMPR2 | c.967+31_967+33delinsCAT (n.967+31_967+33delinsCAT) c.898+31_898+33delinsCAT (n.898+31_898+33delinsCAT) | |
2 | g.202520233A>C | CA2662706030 | BMPR2 | c.967+32A>C (n.967+32A>C) c.898+32A>C (n.898+32A>C) | gnomAD v4 |
2 | g.202520233A>G | CA2577215622 | BMPR2 | c.967+32A>G (n.967+32A>G) c.898+32A>G (n.898+32A>G) | |
2 | g.202520233_202520234del | CA2061256 | BMPR2 | c.967+32_967+33del (n.967+32_967+33del) c.898+32_898+33del (n.898+32_898+33del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202520234del | CA2577215623 | BMPR2 | c.967+33del (n.967+33del) c.898+33del (n.898+33del) | |
2 | g.202520234T>C | CA64016880 | BMPR2 | c.967+33T>C (n.967+33T>C) c.898+33T>C (n.898+33T>C) | dbSNP gnomAD v4 |
2 | g.202520234T= | CA1321540276 | BMPR2 | c.967+33T= (n.967+33T=) c.898+33T= (n.898+33T=) | |
2 | g.202520235G>A | CA2577215624 | BMPR2 | c.967+34G>A (n.967+34G>A) c.898+34G>A (n.898+34G>A) | gnomAD v4 |
2 | g.202520235G>C | CA2577215625 | BMPR2 | c.967+34G>C (n.967+34G>C) c.898+34G>C (n.898+34G>C) | |
2 | g.202520236T>A | CA2061258 | BMPR2 | c.967+35T>A (n.967+35T>A) c.898+35T>A (n.898+35T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520236T>G | CA1041342037 | BMPR2 | c.967+35T>G (n.967+35T>G) c.898+35T>G (n.898+35T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520236T= | CA1321540278 | BMPR2 | c.967+35T= (n.967+35T=) c.898+35T= (n.898+35T=) | |
2 | g.202520236_202520237delinsTG | CA1321540277 | BMPR2 | c.967+35_967+36delinsTG (n.967+35_967+36delinsTG) c.898+35_898+36delinsTG (n.898+35_898+36delinsTG) | |
2 | g.202520239del | CA539387002 | BMPR2 | c.967+38del (n.967+38del) c.898+38del (n.898+38del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202520239G>A | CA2577215626 | BMPR2 | c.967+38G>A (n.967+38G>A) c.898+38G>A (n.898+38G>A) | gnomAD v4 |
2 | g.202520239G= | CA1321540279 | BMPR2 | c.967+38G= (n.967+38G=) c.898+38G= (n.898+38G=) | |
2 | g.202520240_202520241dup | CA2061259 | BMPR2 | c.967+39_967+40dup (n.967+39_967+40dup) c.898+39_898+40dup (n.898+39_898+40dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202520242C>T | CA2662706037 | BMPR2 | c.967+41C>T (n.967+41C>T) c.898+41C>T (n.898+41C>T) | gnomAD v4 |
2 | g.202520243A= | CA1321540280 | BMPR2 | c.967+42A= (n.967+42A=) c.898+42A= (n.898+42A=) | |
2 | g.202520243A>C | CA1041342039 | BMPR2 | c.967+42A>C (n.967+42A>C) c.898+42A>C (n.898+42A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520244A= | CA1321540281 | BMPR2 | c.967+43A= (n.967+43A=) c.898+43A= (n.898+43A=) | |
2 | g.202520244A>C | CA2061260 | BMPR2 | c.967+43A>C (n.967+43A>C) c.898+43A>C (n.898+43A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202520244A>G | CA914539713 | BMPR2 | c.967+43A>G (n.967+43A>G) c.898+43A>G (n.898+43A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202520248T>G | CA1321540282 | BMPR2 | c.967+47T>G (n.967+47T>G) c.898+47T>G (n.898+47T>G) | dbSNP |
2 | g.202520248T= | CA1321540283 | BMPR2 | c.967+47T= (n.967+47T=) c.898+47T= (n.898+47T=) |