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.202467600A= | CA1321510592 | BMPR2 | c.329A= (p.Asn110=) c.260A= (p.Asn87=) n.236A= | |
2 | g.202467600A>C | CA350399680 | BMPR2 | c.329A>C (p.Asn110Thr) c.260A>C (p.Asn87Thr) n.236A>C | |
2 | g.202467600A>G | CA350399681 | BMPR2 | c.329A>G (p.Asn110Ser) c.260A>G (p.Asn87Ser) n.236A>G | dbSNP gnomAD v4 |
2 | g.202467600A>T | CA350399682 | BMPR2 | c.329A>T (p.Asn110Ile) c.260A>T (p.Asn87Ile) n.236A>T | |
2 | g.202467601T>A | CA350399683 | BMPR2 | c.330T>A (p.Asn110Lys) c.261T>A (p.Asn87Lys) n.237T>A | |
2 | g.202467601T>C | CA430903834 | BMPR2 | c.330T>C (p.Asn110=) c.261T>C (p.Asn87=) n.237T>C | |
2 | g.202467601T>G | CA350399684 | BMPR2 | c.330T>G (p.Asn110Lys) c.261T>G (p.Asn87Lys) n.237T>G | |
2 | g.202467602G>A | CA350399685 | BMPR2 | c.331G>A (p.Gly111Arg) c.262G>A (p.Gly88Arg) n.238G>A | |
2 | g.202467602G>C | CA350399686 | BMPR2 | c.331G>C (p.Gly111Arg) c.262G>C (p.Gly88Arg) n.238G>C | |
2 | g.202467602G>T | CA350399687 | BMPR2 | c.331G>T (p.Gly111Ter) c.262G>T (p.Gly88Ter) n.238G>T | |
2 | g.202467603G>A | CA350399689 | BMPR2 | c.332G>A (p.Gly111Glu) c.263G>A (p.Gly88Glu) n.239G>A | |
2 | g.202467603G>C | CA350399690 | BMPR2 | c.332G>C (p.Gly111Ala) c.263G>C (p.Gly88Ala) n.239G>C | |
2 | g.202467603G= | CA1321510596 | BMPR2 | c.332G= (p.Gly111=) c.263G= (p.Gly88=) n.239G= | |
2 | g.202467603G>T | CA350399688 | BMPR2 | c.332G>T (p.Gly111Val) c.263G>T (p.Gly88Val) n.239G>T | dbSNP gnomAD v2 |
2 | g.202467604A>C | CA430903835 | BMPR2 | c.333A>C (p.Gly111=) c.264A>C (p.Gly88=) n.240A>C | |
2 | g.202467604A>G | CA430903836 | BMPR2 | c.333A>G (p.Gly111=) c.264A>G (p.Gly88=) n.240A>G | |
2 | g.202467604A>T | CA430903837 | BMPR2 | c.333A>T (p.Gly111=) c.264A>T (p.Gly88=) n.240A>T | |
2 | g.202467605A>C | CA350399693 | BMPR2 | c.334A>C (p.Thr112Pro) c.265A>C (p.Thr89Pro) n.241A>C | |
2 | g.202467605A>G | CA350399691 | BMPR2 | c.334A>G (p.Thr112Ala) c.265A>G (p.Thr89Ala) n.241A>G | gnomAD v4 |
2 | g.202467605A>T | CA350399692 | BMPR2 | c.334A>T (p.Thr112Ser) c.265A>T (p.Thr89Ser) n.241A>T | |
2 | g.202467606C>A | CA350399694 | BMPR2 | c.335C>A (p.Thr112Lys) c.266C>A (p.Thr89Lys) n.242C>A | ClinVar dbSNP gnomAD v4 |
2 | g.202467606C>G | CA350399695 | BMPR2 | c.335C>G (p.Thr112Arg) c.266C>G (p.Thr89Arg) n.242C>G | |
2 | g.202467606C>T | CA350399696 | BMPR2 | c.335C>T (p.Thr112Ile) c.266C>T (p.Thr89Ile) n.242C>T | |
2 | g.202467607A>C | CA430903838 | BMPR2 | c.336A>C (p.Thr112=) c.267A>C (p.Thr89=) n.243A>C | |
2 | g.202467607A>G | CA430903839 | BMPR2 | c.336A>G (p.Thr112=) c.267A>G (p.Thr89=) n.243A>G | |
2 | g.202467607A>T | CA430903840 | BMPR2 | c.336A>T (p.Thr112=) c.267A>T (p.Thr89=) n.243A>T | |
2 | g.202467608T>A | CA350399697 | BMPR2 | c.337T>A (p.Tyr113Asn) c.268T>A (p.Tyr90Asn) n.244T>A | |
2 | g.202467608T>C | CA350399698 | BMPR2 | c.337T>C (p.Tyr113His) c.268T>C (p.Tyr90His) n.244T>C | gnomAD v4 |
2 | g.202467608T>G | CA350399699 | BMPR2 | c.337T>G (p.Tyr113Asp) c.268T>G (p.Tyr90Asp) n.244T>G | |
2 | g.202467608T= | CA1321510599 | BMPR2 | c.337T= (p.Tyr113=) c.268T= (p.Tyr90=) n.244T= | |
2 | g.202467609A= | CA1321510611 | BMPR2 | c.338A= (p.Tyr113=) c.269A= (p.Tyr90=) n.245A= | |
2 | g.202467609A>C | CA350399700 | BMPR2 | c.338A>C (p.Tyr113Ser) c.269A>C (p.Tyr90Ser) n.245A>C | |
2 | g.202467609A>G | CA350399701 | BMPR2 | c.338A>G (p.Tyr113Cys) c.269A>G (p.Tyr90Cys) n.245A>G | ClinVar dbSNP COSMIC |
2 | g.202467609A>T | CA350399702 | BMPR2 | c.338A>T (p.Tyr113Phe) c.269A>T (p.Tyr90Phe) n.245A>T | |
2 | g.202467609dup | CA645294008 | BMPR2 | c.338dup (p.Tyr113Ter) c.269dup (p.Tyr90Ter) n.245dup | ClinVar dbSNP |
2 | g.202467610C>A | CA350399703 | BMPR2 | c.339C>A (p.Tyr113Ter) c.270C>A (p.Tyr90Ter) n.246C>A | ClinVar dbSNP |
2 | g.202467610C= | CA1321510614 | BMPR2 | c.339C= (p.Tyr113=) c.270C= (p.Tyr90=) n.246C= | |
2 | g.202467610C>G | CA350399704 | BMPR2 | c.339C>G (p.Tyr113Ter) c.270C>G (p.Tyr90Ter) n.246C>G | ClinVar dbSNP |
2 | g.202467610C>T | CA430903841 | BMPR2 | c.339C>T (p.Tyr113=) c.270C>T (p.Tyr90=) n.246C>T | |
2 | g.202467611del | CA2586965553 | BMPR2 | c.340del (p.Arg114ValfsTer?) c.271del (p.Arg91ValfsTer?) n.247del | |
2 | g.202467610_202467611insAA | CA645294009 | BMPR2 | c.339_340insAA (p.Arg114AsnfsTer?) c.270_271insAA (p.Arg91AsnfsTer?) n.246_247insAA | ClinVar dbSNP |
2 | g.202467611C>A | CA350399705 | BMPR2 | c.340C>A (p.Arg114Ser) c.271C>A (p.Arg91Ser) n.247C>A | gnomAD v4 |
2 | g.202467611C= | CA1321510627 | BMPR2 | c.340C= (p.Arg114=) c.271C= (p.Arg91=) n.247C= | |
2 | g.202467611C>G | CA350399707 | BMPR2 | c.340C>G (p.Arg114Gly) c.271C>G (p.Arg91Gly) n.247C>G | |
2 | g.202467611C>T | CA350399706 | BMPR2 | c.340C>T (p.Arg114Cys) c.271C>T (p.Arg91Cys) n.247C>T | ClinVar dbSNP gnomAD v4 |
2 | g.202467612G>A | CA350399708 | BMPR2 | c.341G>A (p.Arg114His) c.272G>A (p.Arg91His) n.248G>A | gnomAD v4 |
2 | g.202467612G>C | CA350399709 | BMPR2 | c.341G>C (p.Arg114Pro) c.272G>C (p.Arg91Pro) n.248G>C | |
2 | g.202467612G= | CA1321510632 | BMPR2 | c.341G= (p.Arg114=) c.272G= (p.Arg91=) n.248G= | |
2 | g.202467612G>T | CA350399710 | BMPR2 | c.341G>T (p.Arg114Leu) c.272G>T (p.Arg91Leu) n.248G>T | |
2 | g.202467613T>A | CA430903842 | BMPR2 | c.342T>A (p.Arg114=) c.273T>A (p.Arg91=) n.249T>A | |
2 | g.202467613T>C | CA430903843 | BMPR2 | c.342T>C (p.Arg114=) c.273T>C (p.Arg91=) n.249T>C | |
2 | g.202467613T>G | CA430903844 | BMPR2 | c.342T>G (p.Arg114=) c.273T>G (p.Arg91=) n.249T>G | |
2 | g.202467615dup | CA915941500 | BMPR2 | c.344dup (p.Cys116LeufsTer4) c.275dup (p.Cys93LeufsTer4) n.251dup | ClinVar dbSNP |
2 | g.202467615del | CA2586965554 | BMPR2 | c.344del (p.Phe115SerfsTer?) c.275del (p.Phe92SerfsTer?) n.251del | |
2 | g.202467614T>A | CA350399711 | BMPR2 | c.343T>A (p.Phe115Ile) c.274T>A (p.Phe92Ile) n.250T>A | |
2 | g.202467614T>C | CA350399712 | BMPR2 | c.343T>C (p.Phe115Leu) c.274T>C (p.Phe92Leu) n.250T>C | ClinVar dbSNP |
2 | g.202467614T>G | CA350399713 | BMPR2 | c.343T>G (p.Phe115Val) c.274T>G (p.Phe92Val) n.250T>G | |
2 | g.202467614_202467616delinsTTC | CA1321510638 | BMPR2 | c.343_345delinsTTC (p.Phe115=) c.274_276delinsTTC (p.Phe92=) n.250_252delinsTTC | |
2 | g.202467615T>A | CA350399714 | BMPR2 | c.344T>A (p.Phe115Tyr) c.275T>A (p.Phe92Tyr) n.251T>A | |
2 | g.202467615T>C | CA350399715 | BMPR2 | c.344T>C (p.Phe115Ser) c.275T>C (p.Phe92Ser) n.251T>C | |
2 | g.202467615T>G | CA350399716 | BMPR2 | c.344T>G (p.Phe115Cys) c.275T>G (p.Phe92Cys) n.251T>G | |
2 | g.202467616_202467617del | CA645294010 | BMPR2 | c.345_346del (p.Phe115LeufsTer4) c.276_277del (p.Phe92LeufsTer4) n.252_253del | ClinVar dbSNP |
2 | g.202467616C>A | CA350399717 | BMPR2 | c.345C>A (p.Phe115Leu) c.276C>A (p.Phe92Leu) n.252C>A | |
2 | g.202467616C= | CA1321510641 | BMPR2 | c.345C= (p.Phe115=) c.276C= (p.Phe92=) n.252C= | |
2 | g.202467616C>G | CA350399718 | BMPR2 | c.345C>G (p.Phe115Leu) c.276C>G (p.Phe92Leu) n.252C>G | ClinVar |
2 | g.202467616C>T | CA430903845 | BMPR2 | c.345C>T (p.Phe115=) c.276C>T (p.Phe92=) n.252C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467617del | CA2573134353 | BMPR2 | c.346del (p.Cys116AlafsTer?) c.277del (p.Cys93AlafsTer?) n.253del | ClinVar dbSNP |
2 | g.202467617T>A | CA350399720 | BMPR2 | c.346T>A (p.Cys116Ser) c.277T>A (p.Cys93Ser) n.253T>A | |
2 | g.202467617T>C | CA350399721 | BMPR2 | c.346T>C (p.Cys116Arg) c.277T>C (p.Cys93Arg) n.253T>C | ClinVar dbSNP |
2 | g.202467617T>G | CA350399719 | BMPR2 | c.346T>G (p.Cys116Gly) c.277T>G (p.Cys93Gly) n.253T>G | |
2 | g.202467617T= | CA1321510643 | BMPR2 | c.346T= (p.Cys116=) c.277T= (p.Cys93=) n.253T= | |
2 | g.202467618G>A | CA350399722 | BMPR2 | c.347G>A (p.Cys116Tyr) c.278G>A (p.Cys93Tyr) n.254G>A | |
2 | g.202467618G>C | CA350399723 | BMPR2 | c.347G>C (p.Cys116Ser) c.278G>C (p.Cys93Ser) n.254G>C | |
2 | g.202467618G>T | CA350399724 | BMPR2 | c.347G>T (p.Cys116Phe) c.278G>T (p.Cys93Phe) n.254G>T | |
2 | g.202467619C>A | CA350399725 | BMPR2 | c.348C>A (p.Cys116Ter) c.279C>A (p.Cys93Ter) n.255C>A | |
2 | g.202467619C>G | CA350399726 | BMPR2 | c.348C>G (p.Cys116Trp) c.279C>G (p.Cys93Trp) n.255C>G | |
2 | g.202467619C>T | CA430903846 | BMPR2 | c.348C>T (p.Cys116=) c.279C>T (p.Cys93=) n.255C>T | |
2 | g.202467620T>A | CA350399727 | BMPR2 | c.349T>A (p.Cys117Ser) c.280T>A (p.Cys94Ser) n.256T>A | |
2 | g.202467620T>C | CA350399728 | BMPR2 | c.349T>C (p.Cys117Arg) c.280T>C (p.Cys94Arg) n.256T>C | ClinVar dbSNP |
2 | g.202467620T>G | CA350399729 | BMPR2 | c.349T>G (p.Cys117Gly) c.280T>G (p.Cys94Gly) n.256T>G | ClinVar dbSNP |
2 | g.202467620T= | CA1321510645 | BMPR2 | c.349T= (p.Cys117=) c.280T= (p.Cys94=) n.256T= | |
2 | g.202467621G>A | CA350399730 | BMPR2 | c.350G>A (p.Cys117Tyr) c.281G>A (p.Cys94Tyr) n.257G>A | ClinVar dbSNP gnomAD v4 |
2 | g.202467621G>C | CA350399731 | BMPR2 | c.350G>C (p.Cys117Ser) c.281G>C (p.Cys94Ser) n.257G>C | ClinVar dbSNP |
2 | g.202467621G= | CA1321510651 | BMPR2 | c.350G= (p.Cys117=) c.281G= (p.Cys94=) n.257G= | |
2 | g.202467621G>T | CA350399732 | BMPR2 | c.350G>T (p.Cys117Phe) c.281G>T (p.Cys94Phe) n.257G>T | |
2 | g.202467621dup | CA2586965555 | BMPR2 | c.350dup (p.Cys117TrpfsTer3) c.281dup (p.Cys94TrpfsTer3) n.257dup | |
2 | g.202467622T>A | CA350399733 | BMPR2 | c.351T>A (p.Cys117Ter) c.282T>A (p.Cys94Ter) n.258T>A | |
2 | g.202467622T>C | CA430903847 | BMPR2 | c.351T>C (p.Cys117=) c.282T>C (p.Cys94=) n.258T>C | |
2 | g.202467622T>G | CA350399734 | BMPR2 | c.351T>G (p.Cys117Trp) c.282T>G (p.Cys94Trp) n.258T>G | |
2 | g.202467623T>A | CA350399737 | BMPR2 | c.352T>A (p.Cys118Ser) c.283T>A (p.Cys95Ser) n.259T>A | |
2 | g.202467623T>C | CA350399736 | BMPR2 | c.352T>C (p.Cys118Arg) c.283T>C (p.Cys95Arg) n.259T>C | |
2 | g.202467623T>G | CA350399735 | BMPR2 | c.352T>G (p.Cys118Gly) c.283T>G (p.Cys95Gly) n.259T>G | |
2 | g.202467623_202467624delinsTG | CA1321510661 | BMPR2 | c.352_353delinsTG (p.Cys118=) c.283_284delinsTG (p.Cys95=) n.259_260delinsTG | |
2 | g.202467624del | CA645294011 | BMPR2 | c.353del (p.Cys118LeufsTer?) c.284del (p.Cys95LeufsTer?) n.260del | ClinVar dbSNP |
2 | g.202467624G>A | CA350399738 | BMPR2 | c.353G>A (p.Cys118Tyr) c.284G>A (p.Cys95Tyr) n.260G>A | ClinVar dbSNP |
2 | g.202467624G>C | CA350399739 | BMPR2 | c.353G>C (p.Cys118Ser) c.284G>C (p.Cys95Ser) n.260G>C | |
2 | g.202467624G= | CA1321510663 | BMPR2 | c.353G= (p.Cys118=) c.284G= (p.Cys95=) n.260G= | |
2 | g.202467624G>T | CA350399740 | BMPR2 | c.353G>T (p.Cys118Phe) c.284G>T (p.Cys95Phe) n.260G>T | |
2 | g.202467625T>A | CA350399741 | BMPR2 | c.354T>A (p.Cys118Ter) c.285T>A (p.Cys95Ter) n.261T>A | |
2 | g.202467625T>C | CA430903849 | BMPR2 | c.354T>C (p.Cys118=) c.285T>C (p.Cys95=) n.261T>C | |
2 | g.202467625T>G | CA278075 | BMPR2 | c.354T>G (p.Cys118Trp) c.285T>G (p.Cys95Trp) n.261T>G | ClinVar dbSNP gnomAD v4 |
2 | g.202467625T= | CA1321510665 | BMPR2 | c.354T= (p.Cys118=) c.285T= (p.Cys95=) n.261T= | |
2 | g.202467625_202467626delinsAG | CA645294012 | BMPR2 | c.354_355delinsAG (p.Cys118Ter) c.285_286delinsAG (p.Cys95Ter) n.261_262delinsAG | ClinVar dbSNP |
2 | g.202467625_202467626delinsTA | CA1321510664 | BMPR2 | c.354_355delinsTA (p.Cys118=) c.285_286delinsTA (p.Cys95=) n.261_262delinsTA | |
2 | g.202467626del | CA645294013 | BMPR2 | c.355del (p.Ser119AlafsTer?) c.286del (p.Ser96AlafsTer?) n.262del | ClinVar dbSNP |
2 | g.202467626A= | CA1321510666 | BMPR2 | c.355A= (p.Ser119=) c.286A= (p.Ser96=) n.262A= | |
2 | g.202467626A>C | CA350399742 | BMPR2 | c.355A>C (p.Ser119Arg) c.286A>C (p.Ser96Arg) n.262A>C | |
2 | g.202467626A>G | CA350399743 | BMPR2 | c.355A>G (p.Ser119Gly) c.286A>G (p.Ser96Gly) n.262A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467626A>T | CA350399744 | BMPR2 | c.355A>T (p.Ser119Cys) c.286A>T (p.Ser96Cys) n.262A>T | |
2 | g.202467627G>A | CA350399745 | BMPR2 | c.356G>A (p.Ser119Asn) c.287G>A (p.Ser96Asn) n.263G>A | gnomAD v4 |
2 | g.202467627G>C | CA350399746 | BMPR2 | c.356G>C (p.Ser119Thr) c.287G>C (p.Ser96Thr) n.263G>C | |
2 | g.202467627G>T | CA350399747 | BMPR2 | c.356G>T (p.Ser119Ile) c.287G>T (p.Ser96Ile) n.263G>T | |
2 | g.202467627_202467629delinsGCA | CA1321510667 | BMPR2 | c.356_358delinsGCA (p.Ser119=) c.287_289delinsGCA (p.Ser96=) n.263_265delinsGCA | |
2 | g.202467628C>A | CA350399748 | BMPR2 | c.357C>A (p.Ser119Arg) c.288C>A (p.Ser96Arg) n.264C>A | |
2 | g.202467628C= | CA1321510668 | BMPR2 | c.357C= (p.Ser119=) c.288C= (p.Ser96=) n.264C= | |
2 | g.202467628C>G | CA350399749 | BMPR2 | c.357C>G (p.Ser119Arg) c.288C>G (p.Ser96Arg) n.264C>G | |
2 | g.202467628C>T | CA2061092 | BMPR2 | c.357C>T (p.Ser119=) c.288C>T (p.Ser96=) n.264C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467630_202467631del | CA645294014 | BMPR2 | c.359_360del (p.Thr120ArgfsTer4) c.290_291del (p.Thr97ArgfsTer4) n.266_267del | ClinVar dbSNP |
2 | g.202467629A>C | CA350399751 | BMPR2 | c.358A>C (p.Thr120Pro) c.289A>C (p.Thr97Pro) n.265A>C | |
2 | g.202467629A>G | CA350399752 | BMPR2 | c.358A>G (p.Thr120Ala) c.289A>G (p.Thr97Ala) n.265A>G | gnomAD v4 |
2 | g.202467629A>T | CA350399750 | BMPR2 | c.358A>T (p.Thr120Ser) c.289A>T (p.Thr97Ser) n.265A>T | |
2 | g.202467630C>A | CA350399754 | BMPR2 | c.359C>A (p.Thr120Lys) c.290C>A (p.Thr97Lys) n.266C>A | |
2 | g.202467630C>G | CA350399753 | BMPR2 | c.359C>G (p.Thr120Arg) c.290C>G (p.Thr97Arg) n.266C>G | |
2 | g.202467630C>T | CA350399755 | BMPR2 | c.359C>T (p.Thr120Ile) c.290C>T (p.Thr97Ile) n.266C>T | |
2 | g.202467631A>C | CA430903855 | BMPR2 | c.360A>C (p.Thr120=) c.291A>C (p.Thr97=) n.267A>C | |
2 | g.202467631A>G | CA430903854 | BMPR2 | c.360A>G (p.Thr120=) c.291A>G (p.Thr97=) n.267A>G | gnomAD v4 |
2 | g.202467631A>T | CA430903853 | BMPR2 | c.360A>T (p.Thr120=) c.291A>T (p.Thr97=) n.267A>T | |
2 | g.202467632G>A | CA350399756 | BMPR2 | c.361G>A (p.Asp121Asn) c.292G>A (p.Asp98Asn) n.268G>A | COSMIC |
2 | g.202467632G>C | CA350399758 | BMPR2 | c.361G>C (p.Asp121His) c.292G>C (p.Asp98His) n.268G>C | |
2 | g.202467632G>T | CA350399757 | BMPR2 | c.361G>T (p.Asp121Tyr) c.292G>T (p.Asp98Tyr) n.268G>T | |
2 | g.202467633A>C | CA350399759 | BMPR2 | c.362A>C (p.Asp121Ala) c.293A>C (p.Asp98Ala) n.269A>C | |
2 | g.202467633A>G | CA350399760 | BMPR2 | c.362A>G (p.Asp121Gly) c.293A>G (p.Asp98Gly) n.269A>G | |
2 | g.202467633A>T | CA350399761 | BMPR2 | c.362A>T (p.Asp121Val) c.293A>T (p.Asp98Val) n.269A>T | |
2 | g.202467634T>A | CA350399762 | BMPR2 | c.363T>A (p.Asp121Glu) c.294T>A (p.Asp98Glu) n.270T>A | |
2 | g.202467634T>C | CA430903858 | BMPR2 | c.363T>C (p.Asp121=) c.294T>C (p.Asp98=) n.270T>C | |
2 | g.202467634T>G | CA350399763 | BMPR2 | c.363T>G (p.Asp121Glu) c.294T>G (p.Asp98Glu) n.270T>G | |
2 | g.202467635T>A | CA350399764 | BMPR2 | c.364T>A (p.Leu122Ile) c.295T>A (p.Leu99Ile) n.271T>A | |
2 | g.202467635T>C | CA430903859 | BMPR2 | c.364T>C (p.Leu122=) c.295T>C (p.Leu99=) n.271T>C | |
2 | g.202467635T>G | CA350399765 | BMPR2 | c.364T>G (p.Leu122Val) c.295T>G (p.Leu99Val) n.271T>G | |
2 | g.202467636T>A | CA350399766 | BMPR2 | c.365T>A (p.Leu122Ter) c.296T>A (p.Leu99Ter) n.272T>A | |
2 | g.202467636T>C | CA350399767 | BMPR2 | c.365T>C (p.Leu122Ser) c.296T>C (p.Leu99Ser) n.272T>C | COSMIC |
2 | g.202467636T>G | CA350399768 | BMPR2 | c.365T>G (p.Leu122Ter) c.296T>G (p.Leu99Ter) n.272T>G | |
2 | g.202467637A>C | CA350399769 | BMPR2 | c.366A>C (p.Leu122Phe) c.297A>C (p.Leu99Phe) n.273A>C | |
2 | g.202467637A>G | CA430903860 | BMPR2 | c.366A>G (p.Leu122=) c.297A>G (p.Leu99=) n.273A>G | |
2 | g.202467637A>T | CA350399770 | BMPR2 | c.366A>T (p.Leu122Phe) c.297A>T (p.Leu99Phe) n.273A>T | gnomAD v4 |
2 | g.202467638T>A | CA278093 | BMPR2 | c.367T>A (p.Cys123Ser) c.298T>A (p.Cys100Ser) n.274T>A | ClinVar dbSNP |
2 | g.202467638T>C | CA278091 | BMPR2 | c.367T>C (p.Cys123Arg) c.298T>C (p.Cys100Arg) n.274T>C | ClinVar dbSNP |
2 | g.202467638T>G | CA350399771 | BMPR2 | c.367T>G (p.Cys123Gly) c.298T>G (p.Cys100Gly) n.274T>G | |
2 | g.202467638T= | CA1321510669 | BMPR2 | c.367T= (p.Cys123=) c.298T= (p.Cys100=) n.274T= | |
2 | g.202467639G>A | CA350399772 | BMPR2 | c.368G>A (p.Cys123Tyr) c.299G>A (p.Cys100Tyr) n.275G>A | |
2 | g.202467639G>C | CA350399773 | BMPR2 | c.368G>C (p.Cys123Ser) c.299G>C (p.Cys100Ser) n.275G>C | |
2 | g.202467639G>T | CA350399774 | BMPR2 | c.368G>T (p.Cys123Phe) c.299G>T (p.Cys100Phe) n.275G>T | |
2 | g.202467640del | CA2573051835 | BMPR2 | c.369del (p.Cys123Ter) c.300del (p.Cys100Ter) n.276del | ClinVar dbSNP |
2 | g.202467640T>A | CA350399775 | BMPR2 | c.369T>A (p.Cys123Ter) c.300T>A (p.Cys100Ter) n.276T>A | |
2 | g.202467640T>C | CA430903861 | BMPR2 | c.369T>C (p.Cys123=) c.300T>C (p.Cys100=) n.276T>C | |
2 | g.202467640T>G | CA350399776 | BMPR2 | c.369T>G (p.Cys123Trp) c.300T>G (p.Cys100Trp) n.276T>G | |
2 | g.202467640T= | CA1321510670 | BMPR2 | c.369T= (p.Cys123=) c.300T= (p.Cys100=) n.276T= | |
2 | g.202467641A= | CA1321510671 | BMPR2 | c.370A= (p.Asn124=) c.301A= (p.Asn101=) n.277A= | |
2 | g.202467641A>C | CA350399777 | BMPR2 | c.370A>C (p.Asn124His) c.301A>C (p.Asn101His) n.277A>C | |
2 | g.202467641A>G | CA350399778 | BMPR2 | c.370A>G (p.Asn124Asp) c.301A>G (p.Asn101Asp) n.277A>G | ClinVar dbSNP |
2 | g.202467641A>T | CA350399780 | BMPR2 | c.370A>T (p.Asn124Tyr) c.301A>T (p.Asn101Tyr) n.277A>T | |
2 | g.202467642dup | CA645294015 | BMPR2 | c.371dup (p.Asn124LysfsTer6) c.302dup (p.Asn101LysfsTer6) n.278dup | ClinVar dbSNP |
2 | g.202467642A>C | CA350399781 | BMPR2 | c.371A>C (p.Asn124Thr) c.302A>C (p.Asn101Thr) n.278A>C | |
2 | g.202467642A>G | CA350399782 | BMPR2 | c.371A>G (p.Asn124Ser) c.302A>G (p.Asn101Ser) n.278A>G | |
2 | g.202467642A>T | CA350399783 | BMPR2 | c.371A>T (p.Asn124Ile) c.302A>T (p.Asn101Ile) n.278A>T | |
2 | g.202467643T>A | CA350399784 | BMPR2 | c.372T>A (p.Asn124Lys) c.303T>A (p.Asn101Lys) n.279T>A | |
2 | g.202467643T>C | CA430903862 | BMPR2 | c.372T>C (p.Asn124=) c.303T>C (p.Asn101=) n.279T>C | |
2 | g.202467643T>G | CA350399785 | BMPR2 | c.372T>G (p.Asn124Lys) c.303T>G (p.Asn101Lys) n.279T>G | |
2 | g.202467644G>A | CA350399786 | BMPR2 | c.373G>A (p.Val125Ile) c.304G>A (p.Val102Ile) n.280G>A | |
2 | g.202467644G>C | CA350399787 | BMPR2 | c.373G>C (p.Val125Leu) c.304G>C (p.Val102Leu) n.280G>C | |
2 | g.202467644G>T | CA350399788 | BMPR2 | c.373G>T (p.Val125Phe) c.304G>T (p.Val102Phe) n.280G>T | |
2 | g.202467645T>A | CA350399789 | BMPR2 | c.374T>A (p.Val125Asp) c.305T>A (p.Val102Asp) n.281T>A | |
2 | g.202467645T>C | CA350399790 | BMPR2 | c.374T>C (p.Val125Ala) c.305T>C (p.Val102Ala) n.281T>C | |
2 | g.202467645T>G | CA350399791 | BMPR2 | c.374T>G (p.Val125Gly) c.305T>G (p.Val102Gly) n.281T>G | |
2 | g.202467646C>A | CA430903866 | BMPR2 | c.375C>A (p.Val125=) c.306C>A (p.Val102=) n.282C>A | gnomAD v4 |
2 | g.202467646C>G | CA430903865 | BMPR2 | c.375C>G (p.Val125=) c.306C>G (p.Val102=) n.282C>G | gnomAD v4 |
2 | g.202467646C>T | CA430903864 | BMPR2 | c.375C>T (p.Val125=) c.306C>T (p.Val102=) n.282C>T | |
2 | g.202467647A>C | CA350399794 | BMPR2 | c.376A>C (p.Asn126His) c.307A>C (p.Asn103His) n.283A>C | |
2 | g.202467647A>G | CA350399792 | BMPR2 | c.376A>G (p.Asn126Asp) c.307A>G (p.Asn103Asp) n.283A>G | |
2 | g.202467647A>T | CA350399793 | BMPR2 | c.376A>T (p.Asn126Tyr) c.307A>T (p.Asn103Tyr) n.283A>T | |
2 | g.202467648A= | CA1321510677 | BMPR2 | c.377A= (p.Asn126=) c.308A= (p.Asn103=) n.284A= | |
2 | g.202467648A>C | CA350399795 | BMPR2 | c.377A>C (p.Asn126Thr) c.308A>C (p.Asn103Thr) n.284A>C | |
2 | g.202467648A>G | CA323070 | BMPR2 | c.377A>G (p.Asn126Ser) c.308A>G (p.Asn103Ser) n.284A>G | ClinVar dbSNP |
2 | g.202467648A>T | CA350399796 | BMPR2 | c.377A>T (p.Asn126Ile) c.308A>T (p.Asn103Ile) n.284A>T | |
2 | g.202467649C>A | CA350399797 | BMPR2 | c.378C>A (p.Asn126Lys) c.309C>A (p.Asn103Lys) n.285C>A | |
2 | g.202467649C>G | CA350399798 | BMPR2 | c.378C>G (p.Asn126Lys) c.309C>G (p.Asn103Lys) n.285C>G | |
2 | g.202467649C>T | CA430903869 | BMPR2 | c.378C>T (p.Asn126=) c.309C>T (p.Asn103=) n.285C>T | |
2 | g.202467650T>A | CA350399799 | BMPR2 | c.379T>A (p.Phe127Ile) c.310T>A (p.Phe104Ile) n.286T>A | |
2 | g.202467650T>C | CA350399801 | BMPR2 | c.379T>C (p.Phe127Leu) c.310T>C (p.Phe104Leu) n.286T>C | |
2 | g.202467650T>G | CA350399800 | BMPR2 | c.379T>G (p.Phe127Val) c.310T>G (p.Phe104Val) n.286T>G | |
2 | g.202467651T>A | CA350399802 | BMPR2 | c.380T>A (p.Phe127Tyr) c.311T>A (p.Phe104Tyr) n.287T>A | |
2 | g.202467651T>C | CA350399803 | BMPR2 | c.380T>C (p.Phe127Ser) c.311T>C (p.Phe104Ser) n.287T>C | |
2 | g.202467651T>G | CA350399804 | BMPR2 | c.380T>G (p.Phe127Cys) c.311T>G (p.Phe104Cys) n.287T>G | |
2 | g.202467652T>A | CA350399805 | BMPR2 | c.381T>A (p.Phe127Leu) c.312T>A (p.Phe104Leu) n.288T>A | |
2 | g.202467652T>C | CA430903870 | BMPR2 | c.381T>C (p.Phe127=) c.312T>C (p.Phe104=) n.288T>C | gnomAD v4 |
2 | g.202467652T>G | CA350399806 | BMPR2 | c.381T>G (p.Phe127Leu) c.312T>G (p.Phe104Leu) n.288T>G | |
2 | g.202467653A>C | CA350399807 | BMPR2 | c.382A>C (p.Thr128Pro) c.313A>C (p.Thr105Pro) n.289A>C | |
2 | g.202467653A>G | CA350399808 | BMPR2 | c.382A>G (p.Thr128Ala) c.313A>G (p.Thr105Ala) n.289A>G | |
2 | g.202467653A>T | CA350399809 | BMPR2 | c.382A>T (p.Thr128Ser) c.313A>T (p.Thr105Ser) n.289A>T | |
2 | g.202467654C>A | CA350399810 | BMPR2 | c.383C>A (p.Thr128Asn) c.314C>A (p.Thr105Asn) n.290C>A | |
2 | g.202467654C>G | CA350399811 | BMPR2 | c.383C>G (p.Thr128Ser) c.314C>G (p.Thr105Ser) n.290C>G | |
2 | g.202467654C>T | CA350399812 | BMPR2 | c.383C>T (p.Thr128Ile) c.314C>T (p.Thr105Ile) n.290C>T | |
2 | g.202467655T>A | CA430903871 | BMPR2 | c.384T>A (p.Thr128=) c.315T>A (p.Thr105=) n.291T>A | |
2 | g.202467655T>C | CA430903872 | BMPR2 | c.384T>C (p.Thr128=) c.315T>C (p.Thr105=) n.291T>C | |
2 | g.202467655T>G | CA430903873 | BMPR2 | c.384T>G (p.Thr128=) c.315T>G (p.Thr105=) n.291T>G | |
2 | g.202467656G>A | CA350399815 | BMPR2 | c.385G>A (p.Glu129Lys) c.316G>A (p.Glu106Lys) n.292G>A | |
2 | g.202467656G>C | CA350399814 | BMPR2 | c.385G>C (p.Glu129Gln) c.316G>C (p.Glu106Gln) n.292G>C | |
2 | g.202467656G>T | CA350399813 | BMPR2 | c.385G>T (p.Glu129Ter) c.316G>T (p.Glu106Ter) n.292G>T | |
2 | g.202467657A>C | CA350399817 | BMPR2 | c.386A>C (p.Glu129Ala) c.317A>C (p.Glu106Ala) n.293A>C | |
2 | g.202467657A>G | CA350399816 | BMPR2 | c.386A>G (p.Glu129Gly) c.317A>G (p.Glu106Gly) n.293A>G | |
2 | g.202467657A>T | CA350399818 | BMPR2 | c.386A>T (p.Glu129Val) c.317A>T (p.Glu106Val) n.293A>T | |
2 | g.202467658G>A | CA430903874 | BMPR2 | c.387G>A (p.Glu129=) c.318G>A (p.Glu106=) n.294G>A | |
2 | g.202467658G>C | CA350399819 | BMPR2 | c.387G>C (p.Glu129Asp) c.318G>C (p.Glu106Asp) n.294G>C | gnomAD v4 |
2 | g.202467658G>T | CA350399820 | BMPR2 | c.387G>T (p.Glu129Asp) c.318G>T (p.Glu106Asp) n.294G>T | gnomAD v4 |
2 | g.202467659A>C | CA350399821 | BMPR2 | c.388A>C (p.Asn130His) c.319A>C (p.Asn107His) n.295A>C | |
2 | g.202467659A>G | CA350399822 | BMPR2 | c.388A>G (p.Asn130Asp) c.319A>G (p.Asn107Asp) n.295A>G | gnomAD v4 |
2 | g.202467659A>T | CA350399823 | BMPR2 | c.388A>T (p.Asn130Tyr) c.319A>T (p.Asn107Tyr) n.295A>T | |
2 | g.202467660A>C | CA350399824 | BMPR2 | c.389A>C (p.Asn130Thr) c.320A>C (p.Asn107Thr) n.296A>C | |
2 | g.202467660A>G | CA350399825 | BMPR2 | c.389A>G (p.Asn130Ser) c.320A>G (p.Asn107Ser) n.296A>G | COSMIC |
2 | g.202467660A>T | CA350399826 | BMPR2 | c.389A>T (p.Asn130Ile) c.320A>T (p.Asn107Ile) n.296A>T | |
2 | g.202467661T>A | CA350399827 | BMPR2 | c.390T>A (p.Asn130Lys) c.321T>A (p.Asn107Lys) n.297T>A | |
2 | g.202467661T>C | CA430903875 | BMPR2 | c.390T>C (p.Asn130=) c.321T>C (p.Asn107=) n.297T>C | |
2 | g.202467661T>G | CA350399828 | BMPR2 | c.390T>G (p.Asn130Lys) c.321T>G (p.Asn107Lys) n.297T>G | |
2 | g.202467662T>A | CA350399829 | BMPR2 | c.391T>A (p.Phe131Ile) c.322T>A (p.Phe108Ile) n.298T>A | |
2 | g.202467662T>C | CA350399830 | BMPR2 | c.391T>C (p.Phe131Leu) c.322T>C (p.Phe108Leu) n.298T>C | |
2 | g.202467662T>G | CA350399831 | BMPR2 | c.391T>G (p.Phe131Val) c.322T>G (p.Phe108Val) n.298T>G | |
2 | g.202467663T>A | CA350399834 | BMPR2 | c.392T>A (p.Phe131Tyr) c.323T>A (p.Phe108Tyr) n.299T>A | |
2 | g.202467663T>C | CA350399832 | BMPR2 | c.392T>C (p.Phe131Ser) c.323T>C (p.Phe108Ser) n.299T>C | |
2 | g.202467663T>G | CA350399833 | BMPR2 | c.392T>G (p.Phe131Cys) c.323T>G (p.Phe108Cys) n.299T>G | |
2 | g.202467664T>A | CA350399835 | BMPR2 | c.393T>A (p.Phe131Leu) c.324T>A (p.Phe108Leu) n.300T>A | |
2 | g.202467664T>C | CA430903876 | BMPR2 | c.393T>C (p.Phe131=) c.324T>C (p.Phe108=) n.300T>C | dbSNP |
2 | g.202467664T>G | CA350399836 | BMPR2 | c.393T>G (p.Phe131Leu) c.324T>G (p.Phe108Leu) n.300T>G | |
2 | g.202467664T= | CA1321510679 | BMPR2 | c.393T= (p.Phe131=) c.324T= (p.Phe108=) n.300T= | |
2 | g.202467665C>A | CA350399837 | BMPR2 | c.394C>A (p.Pro132Thr) c.325C>A (p.Pro109Thr) n.301C>A | |
2 | g.202467665C>G | CA350399838 | BMPR2 | c.394C>G (p.Pro132Ala) c.325C>G (p.Pro109Ala) n.301C>G | |
2 | g.202467665C>T | CA350399839 | BMPR2 | c.394C>T (p.Pro132Ser) c.325C>T (p.Pro109Ser) n.301C>T | |
2 | g.202467666C>A | CA350399840 | BMPR2 | c.395C>A (p.Pro132Gln) c.326C>A (p.Pro109Gln) n.302C>A | |
2 | g.202467666C>G | CA350399841 | BMPR2 | c.395C>G (p.Pro132Arg) c.326C>G (p.Pro109Arg) n.302C>G | |
2 | g.202467666C>T | CA350399842 | BMPR2 | c.395C>T (p.Pro132Leu) c.326C>T (p.Pro109Leu) n.302C>T | |
2 | g.202467667A= | CA1321510681 | BMPR2 | c.396A= (p.Pro132=) c.327A= (p.Pro109=) n.303A= | |
2 | g.202467667A>C | CA430903879 | BMPR2 | c.396A>C (p.Pro132=) c.327A>C (p.Pro109=) n.303A>C | dbSNP |
2 | g.202467667A>G | CA430903878 | BMPR2 | c.396A>G (p.Pro132=) c.327A>G (p.Pro109=) n.303A>G | dbSNP |
2 | g.202467667A>T | CA430903877 | BMPR2 | c.396A>T (p.Pro132=) c.327A>T (p.Pro109=) n.303A>T | |
2 | g.202467668C>A | CA350399843 | BMPR2 | c.397C>A (p.Pro133Thr) c.328C>A (p.Pro110Thr) n.304C>A | |
2 | g.202467668C>G | CA350399844 | BMPR2 | c.397C>G (p.Pro133Ala) c.328C>G (p.Pro110Ala) n.304C>G | |
2 | g.202467668C>T | CA350399845 | BMPR2 | c.397C>T (p.Pro133Ser) c.328C>T (p.Pro110Ser) n.304C>T | |
2 | g.202467669C>A | CA350399848 | BMPR2 | c.398C>A (p.Pro133His) c.329C>A (p.Pro110His) n.305C>A | |
2 | g.202467669C>G | CA350399847 | BMPR2 | c.398C>G (p.Pro133Arg) c.329C>G (p.Pro110Arg) n.305C>G | |
2 | g.202467669C>T | CA350399846 | BMPR2 | c.398C>T (p.Pro133Leu) c.329C>T (p.Pro110Leu) n.305C>T | gnomAD v4 |
2 | g.202467669_202467670delinsCT | CA1321510685 | BMPR2 | c.398_399delinsCT (p.Pro133=) c.329_330delinsCT (p.Pro110=) n.305_306delinsCT | |
2 | g.202467670del | CA645294016 | BMPR2 | c.399del (p.Pro134LeufsTer18) c.330del (p.Pro111LeufsTer18) n.306del | ClinVar dbSNP |
2 | g.202467670T>A | CA430903880 | BMPR2 | c.399T>A (p.Pro133=) c.330T>A (p.Pro110=) n.306T>A | |
2 | g.202467670T>C | CA430903882 | BMPR2 | c.399T>C (p.Pro133=) c.330T>C (p.Pro110=) n.306T>C | |
2 | g.202467670T>G | CA430903881 | BMPR2 | c.399T>G (p.Pro133=) c.330T>G (p.Pro110=) n.306T>G | |
2 | g.202467671C>A | CA350399849 | BMPR2 | c.400C>A (p.Pro134Thr) c.331C>A (p.Pro111Thr) n.307C>A | |
2 | g.202467671C>G | CA350399850 | BMPR2 | c.400C>G (p.Pro134Ala) c.331C>G (p.Pro111Ala) n.307C>G | |
2 | g.202467671C>T | CA350399851 | BMPR2 | c.400C>T (p.Pro134Ser) c.331C>T (p.Pro111Ser) n.307C>T | gnomAD v4 |
2 | g.202467672C>A | CA350399852 | BMPR2 | c.401C>A (p.Pro134His) c.332C>A (p.Pro111His) n.308C>A | |
2 | g.202467672C>G | CA350399853 | BMPR2 | c.401C>G (p.Pro134Arg) c.332C>G (p.Pro111Arg) n.308C>G | COSMIC |
2 | g.202467672C>T | CA350399854 | BMPR2 | c.401C>T (p.Pro134Leu) c.332C>T (p.Pro111Leu) n.308C>T | gnomAD v4 |
2 | g.202467673T>A | CA2061093 | BMPR2 | c.402T>A (p.Pro134=) c.333T>A (p.Pro111=) n.309T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467673T>C | CA430903883 | BMPR2 | c.402T>C (p.Pro134=) c.333T>C (p.Pro111=) n.309T>C | |
2 | g.202467673T>G | CA430903884 | BMPR2 | c.402T>G (p.Pro134=) c.333T>G (p.Pro111=) n.309T>G | |
2 | g.202467673T= | CA1321510689 | BMPR2 | c.402T= (p.Pro134=) c.333T= (p.Pro111=) n.309T= | |
2 | g.202467674G>A | CA350399855 | BMPR2 | c.403G>A (p.Asp135Asn) c.334G>A (p.Asp112Asn) n.310G>A | |
2 | g.202467674G>C | CA350399856 | BMPR2 | c.403G>C (p.Asp135His) c.334G>C (p.Asp112His) n.310G>C | |
2 | g.202467674G>T | CA350399857 | BMPR2 | c.403G>T (p.Asp135Tyr) c.334G>T (p.Asp112Tyr) n.310G>T | |
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= |