Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202461237_202467808del | CA915941492 | BMPR2 | c.77-3572_418+119del | ClinVar |
2 | g.202465115_202467788del | CA915941495 | BMPR2 | c.247+136_418+99del c.176+132_349+99del n.154+136_325+99del | ClinVar |
2 | g.202465783_202470694del | CA915941496 | BMPR2 | c.247+804_418+3005del c.176+800_349+3005del n.154+804_325+3005del | ClinVar |
2 | g.202466926_202467684delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC | CA1321509919 | BMPR2 | c.248-593_413delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC c.177-127_344delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC n.155-593_320delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC | |
2 | g.202466927_202467684delinsGTAAAGTA | CA645293853 | BMPR2 | c.248-592_413delinsGTAAAGTA c.177-126_344delinsGTAAAGTA n.155-592_320delinsGTAAAGTA | ClinVar dbSNP |
2 | g.202467674_202467676delinsGAC | CA1321510692 | BMPR2 | c.403_405delinsGAC (p.Asp135=) c.334_336delinsGAC (p.Asp112=) n.310_312delinsGAC | |
2 | g.202467674_202467679delinsGACACA | CA1321510693 | BMPR2 | c.403_408delinsGACACA (p.Asp135=) c.334_339delinsGACACA (p.Asp112=) n.310_315delinsGACACA | |
2 | g.202467675A>C | CA350399858 | BMPR2 | c.404A>C (p.Asp135Ala) c.335A>C (p.Asp112Ala) n.311A>C | |
2 | g.202467675A>G | CA350399859 | BMPR2 | c.404A>G (p.Asp135Gly) c.335A>G (p.Asp112Gly) n.311A>G | |
2 | g.202467675A>T | CA350399860 | BMPR2 | c.404A>T (p.Asp135Val) c.335A>T (p.Asp112Val) n.311A>T | |
2 | g.202467678_202467679del | CA645294018 | BMPR2 | c.407_408del (p.Thr136AsnfsTer10) c.338_339del (p.Thr113AsnfsTer10) n.314_315del | ClinVar dbSNP |
2 | g.202467679_202467683del | CA645294017 | BMPR2 | c.408_412del (p.Pro138GlnfsTer7) c.339_343del (p.Pro115GlnfsTer7) n.315_319del | ClinVar dbSNP |
2 | g.202467676C>A | CA350399862 | BMPR2 | c.405C>A (p.Asp135Glu) c.336C>A (p.Asp112Glu) n.312C>A | |
2 | g.202467676C>G | CA350399861 | BMPR2 | c.405C>G (p.Asp135Glu) c.336C>G (p.Asp112Glu) n.312C>G | |
2 | g.202467676C>T | CA430903885 | BMPR2 | c.405C>T (p.Asp135=) c.336C>T (p.Asp112=) n.312C>T | |
2 | g.202467677A>C | CA350399863 | BMPR2 | c.406A>C (p.Thr136Pro) c.337A>C (p.Thr113Pro) n.313A>C | |
2 | g.202467677A>G | CA350399864 | BMPR2 | c.406A>G (p.Thr136Ala) c.337A>G (p.Thr113Ala) n.313A>G | |
2 | g.202467677A>T | CA350399865 | BMPR2 | c.406A>T (p.Thr136Ser) c.337A>T (p.Thr113Ser) n.313A>T | |
2 | g.202467680_202467682del | CA2662704388 | BMPR2 | c.409_411del (p.Thr137del) c.340_342del (p.Thr114del) n.316_318del | gnomAD v4 |
2 | g.202467678C>A | CA350399866 | BMPR2 | c.407C>A (p.Thr136Lys) c.338C>A (p.Thr113Lys) n.314C>A | |
2 | g.202467678C>G | CA350399867 | BMPR2 | c.407C>G (p.Thr136Arg) c.338C>G (p.Thr113Arg) n.314C>G | |
2 | g.202467678C>T | CA350399868 | BMPR2 | c.407C>T (p.Thr136Ile) c.338C>T (p.Thr113Ile) n.314C>T | |
2 | g.202467679A= | CA1321510703 | BMPR2 | c.408A= (p.Thr136=) c.339A= (p.Thr113=) n.315A= | |
2 | g.202467679A>C | CA430903887 | BMPR2 | c.408A>C (p.Thr136=) c.339A>C (p.Thr113=) n.315A>C | |
2 | g.202467679A>G | CA2061094 | BMPR2 | c.408A>G (p.Thr136=) c.339A>G (p.Thr113=) n.315A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467679A>T | CA430903886 | BMPR2 | c.408A>T (p.Thr136=) c.339A>T (p.Thr113=) n.315A>T | |
2 | g.202467680dup | CA2573134354 | BMPR2 | c.409dup (p.Thr137AsnfsTer10) c.340dup (p.Thr114AsnfsTer10) n.316dup | ClinVar dbSNP |
2 | g.202467680A= | CA1321510709 | BMPR2 | c.409A= (p.Thr137=) c.340A= (p.Thr114=) n.316A= | |
2 | g.202467680A>C | CA64532513 | BMPR2 | c.409A>C (p.Thr137Pro) c.340A>C (p.Thr114Pro) n.316A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467680A>G | CA350399869 | BMPR2 | c.409A>G (p.Thr137Ala) c.340A>G (p.Thr114Ala) n.316A>G | dbSNP gnomAD v4 |
2 | g.202467680A>T | CA350399870 | BMPR2 | c.409A>T (p.Thr137Ser) c.340A>T (p.Thr114Ser) n.316A>T | |
2 | g.202467681C>A | CA350399871 | BMPR2 | c.410C>A (p.Thr137Lys) c.341C>A (p.Thr114Lys) n.317C>A | |
2 | g.202467681C>G | CA350399872 | BMPR2 | c.410C>G (p.Thr137Arg) c.341C>G (p.Thr114Arg) n.317C>G | |
2 | g.202467681C>T | CA350399873 | BMPR2 | c.410C>T (p.Thr137Ile) c.341C>T (p.Thr114Ile) n.317C>T | |
2 | g.202467682A= | CA1321510715 | BMPR2 | c.411A= (p.Thr137=) c.342A= (p.Thr114=) n.318A= | |
2 | g.202467682A>C | CA430903888 | BMPR2 | c.411A>C (p.Thr137=) c.342A>C (p.Thr114=) n.318A>C | |
2 | g.202467682A>G | CA2061095 | BMPR2 | c.411A>G (p.Thr137=) c.342A>G (p.Thr114=) n.318A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467682A>T | CA430903889 | BMPR2 | c.411A>T (p.Thr137=) c.342A>T (p.Thr114=) n.318A>T | dbSNP |
2 | g.202467683C>A | CA350399874 | BMPR2 | c.412C>A (p.Pro138Thr) c.343C>A (p.Pro115Thr) n.319C>A | gnomAD v4 COSMIC |
2 | g.202467683C= | CA1321510717 | BMPR2 | c.412C= (p.Pro138=) c.343C= (p.Pro115=) n.319C= | |
2 | g.202467683C>G | CA350399875 | BMPR2 | c.412C>G (p.Pro138Ala) c.343C>G (p.Pro115Ala) n.319C>G | |
2 | g.202467683C>T | CA64532514 | BMPR2 | c.412C>T (p.Pro138Ser) c.343C>T (p.Pro115Ser) n.319C>T | dbSNP gnomAD v4 |
2 | g.202467684C>A | CA350399876 | BMPR2 | c.413C>A (p.Pro138Gln) c.344C>A (p.Pro115Gln) n.320C>A | |
2 | g.202467684C>G | CA350399878 | BMPR2 | c.413C>G (p.Pro138Arg) c.344C>G (p.Pro115Arg) n.320C>G | |
2 | g.202467684C>T | CA350399877 | BMPR2 | c.413C>T (p.Pro138Leu) c.344C>T (p.Pro115Leu) n.320C>T | |
2 | g.202467685A= | CA1321510721 | BMPR2 | c.414A= (p.Pro138=) c.345A= (p.Pro115=) n.321A= | |
2 | g.202467685A>C | CA430903890 | BMPR2 | c.414A>C (p.Pro138=) c.345A>C (p.Pro115=) n.321A>C | |
2 | g.202467685A>G | CA2061096 | BMPR2 | c.414A>G (p.Pro138=) c.345A>G (p.Pro115=) n.321A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467685A>T | CA430903891 | BMPR2 | c.414A>T (p.Pro138=) c.345A>T (p.Pro115=) n.321A>T | |
2 | g.202467686C>A | CA350399881 | BMPR2 | c.415C>A (p.Leu139Ile) c.346C>A (p.Leu116Ile) n.322C>A | |
2 | g.202467686C= | CA1321510723 | BMPR2 | c.415C= (p.Leu139=) c.346C= (p.Leu116=) n.322C= | |
2 | g.202467686C>G | CA350399879 | BMPR2 | c.415C>G (p.Leu139Val) c.346C>G (p.Leu116Val) n.322C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467686C>T | CA350399880 | BMPR2 | c.415C>T (p.Leu139Phe) c.346C>T (p.Leu116Phe) n.322C>T | dbSNP |
2 | g.202467686_202467690delinsCTCAG | CA1321510725 | BMPR2 | c.415_418+1delinsCTCAG c.346_349+1delinsCTCAG n.322_325+1delinsCTCAG | |
2 | g.202467687T>A | CA350399882 | BMPR2 | c.416T>A (p.Leu139His) c.347T>A (p.Leu116His) n.323T>A | |
2 | g.202467687T>C | CA350399883 | BMPR2 | c.416T>C (p.Leu139Pro) c.347T>C (p.Leu116Pro) n.323T>C | |
2 | g.202467687T>G | CA350399884 | BMPR2 | c.416T>G (p.Leu139Arg) c.347T>G (p.Leu116Arg) n.323T>G | |
2 | g.202467688_202467691del | CA915941501 | BMPR2 | c.417_418+2del c.348_349+2del n.324_325+2del | ClinVar dbSNP |
2 | g.202467688C>A | CA430903892 | BMPR2 | c.417C>A (p.Leu139=) c.348C>A (p.Leu116=) n.324C>A | gnomAD v4 |
2 | g.202467688C= | CA1321510740 | BMPR2 | c.417C= (p.Leu139=) c.348C= (p.Leu116=) n.324C= | |
2 | g.202467688C>G | CA430903893 | BMPR2 | c.417C>G (p.Leu139=) c.348C>G (p.Leu116=) n.324C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467688C>T | CA2061097 | BMPR2 | c.417C>T (p.Leu139=) c.348C>T (p.Leu116=) n.324C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467688_202467692delinsCAGTA | CA1321510738 | BMPR2 | c.417_418+3delinsCAGTA c.348_349+3delinsCAGTA n.324_325+3delinsCAGTA | |
2 | g.202467689A>C | CA350399885 | BMPR2 | c.418A>C (p.Ser140Arg) c.349A>C (p.Ser117Arg) n.325A>C | |
2 | g.202467689A>G | CA350399886 | BMPR2 | c.418A>G (p.Ser140Gly) c.349A>G (p.Ser117Gly) n.325A>G | |
2 | g.202467689A>T | CA350399887 | BMPR2 | c.418A>T (p.Ser140Cys) c.349A>T (p.Ser117Cys) n.325A>T | |
2 | g.202467694_202467697del | CA645294019 | BMPR2 | c.418+5_418+8del c.349+5_349+8del n.325+5_325+8del | ClinVar dbSNP |
2 | g.202467690del | CA2586965560 | BMPR2 | c.418+1del (n.418+1del) c.349+1del (n.349+1del) n.325+1del | |
2 | g.202467690G>A | CA350399888 | BMPR2 | c.418+1G>A (n.418+1G>A) c.349+1G>A (n.349+1G>A) n.325+1G>A | |
2 | g.202467690G>C | CA350399889 | BMPR2 | c.418+1G>C (n.418+1G>C) c.349+1G>C (n.349+1G>C) n.325+1G>C | ClinVar dbSNP |
2 | g.202467690G= | CA1321510752 | BMPR2 | c.418+1G= (n.418+1G=) c.349+1G= (n.349+1G=) n.325+1G= | |
2 | g.202467690G>T | CA350399890 | BMPR2 | c.418+1G>T (n.418+1G>T) c.349+1G>T (n.349+1G>T) n.325+1G>T | ClinVar dbSNP |
2 | g.202467691T>A | CA350399893 | BMPR2 | c.418+2T>A (n.418+2T>A) c.349+2T>A (n.349+2T>A) n.325+2T>A | |
2 | g.202467691T>C | CA350399891 | BMPR2 | c.418+2T>C (n.418+2T>C) c.349+2T>C (n.349+2T>C) n.325+2T>C | |
2 | g.202467691T>G | CA350399892 | BMPR2 | c.418+2T>G (n.418+2T>G) c.349+2T>G (n.349+2T>G) n.325+2T>G | |
2 | g.202467691_202467693delinsGAG | CA645294020 | BMPR2 | c.418+2_418+4delinsGAG (n.418+2_418+4delinsGAG) c.349+2_349+4delinsGAG (n.349+2_349+4delinsGAG) n.325+2_325+4delinsGAG | ClinVar dbSNP |
2 | g.202467691_202467693delinsTAA | CA1321510759 | BMPR2 | c.418+2_418+4delinsTAA (n.418+2_418+4delinsTAA) c.349+2_349+4delinsTAA (n.349+2_349+4delinsTAA) n.325+2_325+4delinsTAA | |
2 | g.202467691_202467696delinsTAAGTA | CA1321510762 | BMPR2 | c.418+2_418+7delinsTAAGTA (n.418+2_418+7delinsTAAGTA) c.349+2_349+7delinsTAAGTA (n.349+2_349+7delinsTAAGTA) n.325+2_325+7delinsTAAGTA | |
2 | g.202467692A= | CA1321510764 | BMPR2 | c.418+3A= (n.418+3A=) c.349+3A= (n.349+3A=) n.325+3A= | |
2 | g.202467692A>T | CA645294021 | BMPR2 | c.418+3A>T (n.418+3A>T) c.349+3A>T (n.349+3A>T) n.325+3A>T | ClinVar dbSNP |
2 | g.202467698_202467702del | CA539387820 | BMPR2 | c.418+9_418+13del (n.418+9_418+13del) c.349+9_349+13del (n.349+9_349+13del) n.325+9_325+13del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467693A>G | CA2586965561 | BMPR2 | c.418+4A>G (n.418+4A>G) c.349+4A>G (n.349+4A>G) n.325+4A>G | |
2 | g.202467694G>A | CA645294022 | BMPR2 | c.418+5G>A (n.418+5G>A) c.349+5G>A (n.349+5G>A) n.325+5G>A | ClinVar dbSNP |
2 | g.202467694G= | CA1321510770 | BMPR2 | c.418+5G= (n.418+5G=) c.349+5G= (n.349+5G=) n.325+5G= | |
2 | g.202467697A>G | CA2662704389 | BMPR2 | c.418+8A>G (n.418+8A>G) c.349+8A>G (n.349+8A>G) n.325+8A>G | gnomAD v4 |
2 | g.202467700del | CA2577215520 | BMPR2 | c.418+11del (n.418+11del) c.349+11del (n.349+11del) n.325+11del | |
2 | g.202467700T>A | CA2061098 | BMPR2 | c.418+11T>A (n.418+11T>A) c.349+11T>A (n.349+11T>A) n.325+11T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467700T= | CA1321510772 | BMPR2 | c.418+11T= (n.418+11T=) c.349+11T= (n.349+11T=) n.325+11T= | |
2 | g.202467702A= | CA1321510774 | BMPR2 | c.418+13A= (n.418+13A=) c.349+13A= (n.349+13A=) n.325+13A= | |
2 | g.202467702A>C | CA2061099 | BMPR2 | c.418+13A>C (n.418+13A>C) c.349+13A>C (n.349+13A>C) n.325+13A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467703C>A | CA2753903982 | BMPR2 | c.418+14C>A (n.418+14C>A) c.349+14C>A (n.349+14C>A) n.325+14C>A | |
2 | g.202467703C= | CA1321510777 | BMPR2 | c.418+14C= (n.418+14C=) c.349+14C= (n.349+14C=) n.325+14C= | |
2 | g.202467703C>G | CA539387821 | BMPR2 | c.418+14C>G (n.418+14C>G) c.349+14C>G (n.349+14C>G) n.325+14C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467704del | CA2662704390 | BMPR2 | c.418+15del (n.418+15del) c.349+15del (n.349+15del) n.325+15del | gnomAD v4 |
2 | g.202467705A= | CA1321510779 | BMPR2 | c.418+16A= (n.418+16A=) c.349+16A= (n.349+16A=) n.325+16A= | |
2 | g.202467705A>G | CA2061100 | BMPR2 | c.418+16A>G (n.418+16A>G) c.349+16A>G (n.349+16A>G) n.325+16A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467706A= | CA1321510781 | BMPR2 | c.418+17A= (n.418+17A=) c.349+17A= (n.349+17A=) n.325+17A= | |
2 | g.202467706A>G | CA2061101 | BMPR2 | c.418+17A>G (n.418+17A>G) c.349+17A>G (n.349+17A>G) n.325+17A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467708T>A | CA539387822 | BMPR2 | c.418+19T>A (n.418+19T>A) c.349+19T>A (n.349+19T>A) n.325+19T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467708T>C | CA2577215521 | BMPR2 | c.418+19T>C (n.418+19T>C) c.349+19T>C (n.349+19T>C) n.325+19T>C | gnomAD v4 |
2 | g.202467708T= | CA1321510784 | BMPR2 | c.418+19T= (n.418+19T=) c.349+19T= (n.349+19T=) n.325+19T= | |
2 | g.202467711T>C | CA430903894 | BMPR2 | c.418+22T>C (n.418+22T>C) c.349+22T>C (n.349+22T>C) n.325+22T>C | |
2 | g.202467711T>G | CA2662704391 | BMPR2 | c.418+22T>G (n.418+22T>G) c.349+22T>G (n.349+22T>G) n.325+22T>G | gnomAD v4 |
2 | g.202467715del | CA2662704392 | BMPR2 | c.418+26del (n.418+26del) c.349+26del (n.349+26del) n.325+26del | gnomAD v4 |
2 | g.202467714T>A | CA539387823 | BMPR2 | c.418+25T>A (n.418+25T>A) c.349+25T>A (n.349+25T>A) n.325+25T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467714T>C | CA2662704393 | BMPR2 | c.418+25T>C (n.418+25T>C) c.349+25T>C (n.349+25T>C) n.325+25T>C | gnomAD v4 |
2 | g.202467714T= | CA1321510785 | BMPR2 | c.418+25T= (n.418+25T=) c.349+25T= (n.349+25T=) n.325+25T= | |
2 | g.202467716G>A | CA647618504 | BMPR2 | c.418+27G>A (n.418+27G>A) c.349+27G>A (n.349+27G>A) n.325+27G>A | COSMIC |
2 | g.202467718A= | CA1321510789 | BMPR2 | c.418+29A= (n.418+29A=) c.349+29A= (n.349+29A=) n.325+29A= | |
2 | g.202467718A>G | CA2061102 | BMPR2 | c.418+29A>G (n.418+29A>G) c.349+29A>G (n.349+29A>G) n.325+29A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467721T>G | CA1321510795 | BMPR2 | c.418+32T>G (n.418+32T>G) c.349+32T>G (n.349+32T>G) n.325+32T>G | dbSNP |
2 | g.202467721T= | CA1321510793 | BMPR2 | c.418+32T= (n.418+32T=) c.349+32T= (n.349+32T=) n.325+32T= | |
2 | g.202467722C>T | CA2662704394 | BMPR2 | c.418+33C>T (n.418+33C>T) c.349+33C>T (n.349+33C>T) n.325+33C>T | gnomAD v4 |
2 | g.202467723C= | CA1321510800 | BMPR2 | c.418+34C= (n.418+34C=) c.349+34C= (n.349+34C=) n.325+34C= | |
2 | g.202467723C>G | CA539014684 | BMPR2 | c.418+34C>G (n.418+34C>G) c.349+34C>G (n.349+34C>G) n.325+34C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467723C>T | CA2061103 | BMPR2 | c.418+34C>T (n.418+34C>T) c.349+34C>T (n.349+34C>T) n.325+34C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467724T>A | CA2061104 | BMPR2 | c.418+35T>A (n.418+35T>A) c.349+35T>A (n.349+35T>A) n.325+35T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467724T>C | CA2662704395 | BMPR2 | c.418+35T>C (n.418+35T>C) c.349+35T>C (n.349+35T>C) n.325+35T>C | gnomAD v4 |
2 | g.202467724T= | CA1321510804 | BMPR2 | c.418+35T= (n.418+35T=) c.349+35T= (n.349+35T=) n.325+35T= | |
2 | g.202467725T>C | CA2662704396 | BMPR2 | c.418+36T>C (n.418+36T>C) c.349+36T>C (n.349+36T>C) n.325+36T>C | gnomAD v4 |
2 | g.202467727C>A | CA763419478 | BMPR2 | c.418+38C>A (n.418+38C>A) c.349+38C>A (n.349+38C>A) n.325+38C>A | dbSNP gnomAD v4 |
2 | g.202467727C= | CA1321510808 | BMPR2 | c.418+38C= (n.418+38C=) c.349+38C= (n.349+38C=) n.325+38C= | |
2 | g.202467727C>T | CA2061105 | BMPR2 | c.418+38C>T (n.418+38C>T) c.349+38C>T (n.349+38C>T) n.325+38C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467728T>C | CA2662704397 | BMPR2 | c.418+39T>C (n.418+39T>C) c.349+39T>C (n.349+39T>C) n.325+39T>C | gnomAD v4 |
2 | g.202467728_202467729delinsTC | CA1321510810 | BMPR2 | c.418+39_418+40delinsTC (n.418+39_418+40delinsTC) c.349+39_349+40delinsTC (n.349+39_349+40delinsTC) n.325+39_325+40delinsTC | |
2 | g.202467730del | CA2061106 | BMPR2 | c.418+41del (n.418+41del) c.349+41del (n.349+41del) n.325+41del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467730C>A | CA2662704398 | BMPR2 | c.418+41C>A (n.418+41C>A) c.349+41C>A (n.349+41C>A) n.325+41C>A | gnomAD v4 |
2 | g.202467732A= | CA1321510813 | BMPR2 | c.418+43A= (n.418+43A=) c.349+43A= (n.349+43A=) n.325+43A= | |
2 | g.202467732A>G | CA2061107 | BMPR2 | c.418+43A>G (n.418+43A>G) c.349+43A>G (n.349+43A>G) n.325+43A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467732A>T | CA2753903983 | BMPR2 | c.418+43A>T (n.418+43A>T) c.349+43A>T (n.349+43A>T) n.325+43A>T | |
2 | g.202467735A= | CA1321510815 | BMPR2 | c.418+46A= (n.418+46A=) c.349+46A= (n.349+46A=) n.325+46A= | |
2 | g.202467735A>G | CA64532515 | BMPR2 | c.418+46A>G (n.418+46A>G) c.349+46A>G (n.349+46A>G) n.325+46A>G | dbSNP gnomAD v4 |
2 | g.202467735_202467736delinsAT | CA1321510816 | BMPR2 | c.418+46_418+47delinsAT (n.418+46_418+47delinsAT) c.349+46_349+47delinsAT (n.349+46_349+47delinsAT) n.325+46_325+47delinsAT | |
2 | g.202467736T>G | CA2061108 | BMPR2 | c.418+47T>G (n.418+47T>G) c.349+47T>G (n.349+47T>G) n.325+47T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467736T= | CA1321510819 | BMPR2 | c.418+47T= (n.418+47T=) c.349+47T= (n.349+47T=) n.325+47T= | |
2 | g.202467738del | CA539014691 | BMPR2 | c.418+49del (n.418+49del) c.349+49del (n.349+49del) n.325+49del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467737T>A | CA1041294284 | BMPR2 | c.418+48T>A (n.418+48T>A) c.349+48T>A (n.349+48T>A) n.325+48T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467737T>G | CA2662704399 | BMPR2 | c.418+48T>G (n.418+48T>G) c.349+48T>G (n.349+48T>G) n.325+48T>G | gnomAD v4 |
2 | g.202467737T= | CA1321510823 | BMPR2 | c.418+48T= (n.418+48T=) c.349+48T= (n.349+48T=) n.325+48T= | |
2 | g.202467738T>C | CA2577215522 | BMPR2 | c.418+49T>C (n.418+49T>C) c.349+49T>C (n.349+49T>C) n.325+49T>C | |
2 | g.202467739G= | CA1321510826 | BMPR2 | c.418+50G= (n.418+50G=) c.349+50G= (n.349+50G=) n.325+50G= | |
2 | g.202467739G>T | CA539014692 | BMPR2 | c.418+50G>T (n.418+50G>T) c.349+50G>T (n.349+50G>T) n.325+50G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467740C>A | CA2662704400 | BMPR2 | c.418+51C>A (n.418+51C>A) c.349+51C>A (n.349+51C>A) n.325+51C>A | gnomAD v4 |
2 | g.202467744A= | CA1321510828 | BMPR2 | c.418+55A= (n.418+55A=) c.349+55A= (n.349+55A=) n.325+55A= | |
2 | g.202467744A>C | CA2581845855 | BMPR2 | c.418+55A>C (n.418+55A>C) c.349+55A>C (n.349+55A>C) n.325+55A>C | gnomAD v4 |
2 | g.202467744A>G | CA64532516 | BMPR2 | c.418+55A>G (n.418+55A>G) c.349+55A>G (n.349+55A>G) n.325+55A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467744A>T | CA2581845856 | BMPR2 | c.418+55A>T (n.418+55A>T) c.349+55A>T (n.349+55A>T) n.325+55A>T | |
2 | g.202467745T>C | CA2662704401 | BMPR2 | c.418+56T>C (n.418+56T>C) c.349+56T>C (n.349+56T>C) n.325+56T>C | gnomAD v4 |
2 | g.202467747T>C | CA539014695 | BMPR2 | c.418+58T>C (n.418+58T>C) c.349+58T>C (n.349+58T>C) n.325+58T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467747T= | CA1321510830 | BMPR2 | c.418+58T= (n.418+58T=) c.349+58T= (n.349+58T=) n.325+58T= | |
2 | g.202467747_202467748delinsTA | CA1321510832 | BMPR2 | c.418+58_418+59delinsTA (n.418+58_418+59delinsTA) c.349+58_349+59delinsTA (n.349+58_349+59delinsTA) n.325+58_325+59delinsTA | |
2 | g.202467748A= | CA1321510833 | BMPR2 | c.418+59A= (n.418+59A=) c.349+59A= (n.349+59A=) n.325+59A= | |
2 | g.202467748A>G | CA2662704402 | BMPR2 | c.418+59A>G (n.418+59A>G) c.349+59A>G (n.349+59A>G) n.325+59A>G | gnomAD v4 |
2 | g.202467748A>T | CA1041294291 | BMPR2 | c.418+59A>T (n.418+59A>T) c.349+59A>T (n.349+59A>T) n.325+59A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467754dup | CA1321510835 | BMPR2 | c.418+65dup (n.418+65dup) c.349+65dup (n.349+65dup) n.325+65dup | dbSNP gnomAD v4 |
2 | g.202467754del | CA1321510834 | BMPR2 | c.418+65del (n.418+65del) c.349+65del (n.349+65del) n.325+65del | dbSNP gnomAD v4 |
2 | g.202467750A>T | CA2662704403 | BMPR2 | c.418+61A>T (n.418+61A>T) c.349+61A>T (n.349+61A>T) n.325+61A>T | gnomAD v4 |
2 | g.202467751A>G | CA2662704404 | BMPR2 | c.418+62A>G (n.418+62A>G) c.349+62A>G (n.349+62A>G) n.325+62A>G | gnomAD v4 |
2 | g.202467754A= | CA1321510836 | BMPR2 | c.418+65A= (n.418+65A=) c.349+65A= (n.349+65A=) n.325+65A= | |
2 | g.202467754A>T | CA1041294292 | BMPR2 | c.418+65A>T (n.418+65A>T) c.349+65A>T (n.349+65A>T) n.325+65A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467755C>A | CA2577215523 | BMPR2 | c.418+66C>A (n.418+66C>A) c.349+66C>A (n.349+66C>A) n.325+66C>A | |
2 | g.202467755C>T | CA2662704405 | BMPR2 | c.418+66C>T (n.418+66C>T) c.349+66C>T (n.349+66C>T) n.325+66C>T | gnomAD v4 |
2 | g.202467756T>C | CA2662704406 | BMPR2 | c.418+67T>C (n.418+67T>C) c.349+67T>C (n.349+67T>C) n.325+67T>C | gnomAD v4 |
2 | g.202467756T>G | CA2662704407 | BMPR2 | c.418+67T>G (n.418+67T>G) c.349+67T>G (n.349+67T>G) n.325+67T>G | gnomAD v4 |
2 | g.202467757T>G | CA64532517 | BMPR2 | c.418+68T>G (n.418+68T>G) c.349+68T>G (n.349+68T>G) n.325+68T>G | dbSNP |
2 | g.202467757T= | CA1321510838 | BMPR2 | c.418+68T= (n.418+68T=) c.349+68T= (n.349+68T=) n.325+68T= | |
2 | g.202467758A= | CA1321510840 | BMPR2 | c.418+69A= (n.418+69A=) c.349+69A= (n.349+69A=) n.325+69A= | |
2 | g.202467758A>C | CA2662704408 | BMPR2 | c.418+69A>C (n.418+69A>C) c.349+69A>C (n.349+69A>C) n.325+69A>C | gnomAD v4 |
2 | g.202467758A>T | CA539014697 | BMPR2 | c.418+69A>T (n.418+69A>T) c.349+69A>T (n.349+69A>T) n.325+69A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467763A= | CA1321510841 | BMPR2 | c.418+74A= (n.418+74A=) c.349+74A= (n.349+74A=) n.325+74A= | |
2 | g.202467763A>C | CA2662704409 | BMPR2 | c.418+74A>C (n.418+74A>C) c.349+74A>C (n.349+74A>C) n.325+74A>C | gnomAD v4 |
2 | g.202467763A>G | CA64532518 | BMPR2 | c.418+74A>G (n.418+74A>G) c.349+74A>G (n.349+74A>G) n.325+74A>G | dbSNP |
2 | g.202467764C>A | CA2662704410 | BMPR2 | c.418+75C>A (n.418+75C>A) c.349+75C>A (n.349+75C>A) n.325+75C>A | gnomAD v4 |
2 | g.202467764C>T | CA2662704411 | BMPR2 | c.418+75C>T (n.418+75C>T) c.349+75C>T (n.349+75C>T) n.325+75C>T | gnomAD v4 |
2 | g.202467766T>C | CA2662704412 | BMPR2 | c.418+77T>C (n.418+77T>C) c.349+77T>C (n.349+77T>C) n.325+77T>C | gnomAD v4 |
2 | g.202467767T>A | CA2662704413 | BMPR2 | c.418+78T>A (n.418+78T>A) c.349+78T>A (n.349+78T>A) n.325+78T>A | gnomAD v4 |
2 | g.202467767T>C | CA1321510845 | BMPR2 | c.418+78T>C (n.418+78T>C) c.349+78T>C (n.349+78T>C) n.325+78T>C | dbSNP |
2 | g.202467767T>G | CA64532519 | BMPR2 | c.418+78T>G (n.418+78T>G) c.349+78T>G (n.349+78T>G) n.325+78T>G | dbSNP |
2 | g.202467767T= | CA1321510847 | BMPR2 | c.418+78T= (n.418+78T=) c.349+78T= (n.349+78T=) n.325+78T= | |
2 | g.202467768C>A | CA647618538 | BMPR2 | c.418+79C>A (n.418+79C>A) c.349+79C>A (n.349+79C>A) n.325+79C>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.202467768C= | CA1321510849 | BMPR2 | c.418+79C= (n.418+79C=) c.349+79C= (n.349+79C=) n.325+79C= | |
2 | g.202467769A= | CA1321510852 | BMPR2 | c.418+80A= (n.418+80A=) c.349+80A= (n.349+80A=) n.325+80A= | |
2 | g.202467769A>G | CA64532520 | BMPR2 | c.418+80A>G (n.418+80A>G) c.349+80A>G (n.349+80A>G) n.325+80A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467771G>A | CA64532521 | BMPR2 | c.418+82G>A (n.418+82G>A) c.349+82G>A (n.349+82G>A) n.325+82G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467771G>C | CA1321510857 | BMPR2 | c.418+82G>C (n.418+82G>C) c.349+82G>C (n.349+82G>C) n.325+82G>C | dbSNP gnomAD v4 |
2 | g.202467771G= | CA1321510854 | BMPR2 | c.418+82G= (n.418+82G=) c.349+82G= (n.349+82G=) n.325+82G= | |
2 | g.202467771G>T | CA2581845857 | BMPR2 | c.418+82G>T (n.418+82G>T) c.349+82G>T (n.349+82G>T) n.325+82G>T | gnomAD v4 |
2 | g.202467773T>G | CA2662704414 | BMPR2 | c.418+84T>G (n.418+84T>G) c.349+84T>G (n.349+84T>G) n.325+84T>G | gnomAD v4 |
2 | g.202467775G>A | CA1321510859 | BMPR2 | c.418+86G>A (n.418+86G>A) c.349+86G>A (n.349+86G>A) n.325+86G>A | dbSNP |
2 | g.202467775G= | CA1321510861 | BMPR2 | c.418+86G= (n.418+86G=) c.349+86G= (n.349+86G=) n.325+86G= |