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.202467513_202467519delinsTTATAGG | CA1321510362 | BMPR2 | c.248-6_248delinsTTATAGG c.179-6_179delinsTTATAGG n.155-6_155delinsTTATAGG | |
2 | g.202467514_202467519delinsAC | CA645294004 | BMPR2 | c.248-5_248delinsAC c.179-5_179delinsAC n.155-5_155delinsAC | ClinVar dbSNP |
2 | g.202467518G>A | CA350399500 | BMPR2 | c.248-1G>A (n.248-1G>A) c.179-1G>A (n.179-1G>A) n.155-1G>A | ClinVar dbSNP |
2 | g.202467518G>C | CA350399501 | BMPR2 | c.248-1G>C (n.248-1G>C) c.179-1G>C (n.179-1G>C) n.155-1G>C | |
2 | g.202467518G= | CA1321510368 | BMPR2 | c.248-1G= (n.248-1G=) c.179-1G= (n.179-1G=) n.155-1G= | |
2 | g.202467518G>T | CA350399502 | BMPR2 | c.248-1G>T (n.248-1G>T) c.179-1G>T (n.179-1G>T) n.155-1G>T | |
2 | g.202467519G>A | CA350399503 | BMPR2 | c.248G>A (p.Gly83Glu) c.179G>A (p.Arg60Lys) n.155G>A | ClinVar dbSNP |
2 | g.202467519G>C | CA350399504 | BMPR2 | c.248G>C (p.Gly83Ala) c.179G>C (p.Arg60Thr) n.155G>C | |
2 | g.202467519G= | CA1321510372 | BMPR2 | c.248G= (p.Gly83=) c.179G= (p.Arg60=) n.155G= | |
2 | g.202467519G>T | CA350399505 | BMPR2 | c.248G>T (p.Gly83Val) c.179G>T (p.Arg60Ile) n.155G>T | ClinVar |
2 | g.202467520A>C | CA430903780 | BMPR2 | c.249A>C (p.Gly83=) c.180A>C (p.Arg60Ser) n.156A>C | |
2 | g.202467520A>G | CA430903781 | BMPR2 | c.249A>G (p.Gly83=) c.180A>G (p.Arg60=) n.156A>G | gnomAD v4 |
2 | g.202467520A>T | CA430903782 | BMPR2 | c.249A>T (p.Gly83=) c.180A>T (p.Arg60Ser) n.156A>T | |
2 | g.202467521T>A | CA350399508 | BMPR2 | c.250T>A (p.Cys84Ser) c.181T>A (p.Cys61Ser) n.157T>A | |
2 | g.202467521T>C | CA350399506 | BMPR2 | c.250T>C (p.Cys84Arg) c.181T>C (p.Cys61Arg) n.157T>C | ClinVar dbSNP |
2 | g.202467521T>G | CA350399507 | BMPR2 | c.250T>G (p.Cys84Gly) c.181T>G (p.Cys61Gly) n.157T>G | ClinVar dbSNP |
2 | g.202467521T= | CA1321510377 | BMPR2 | c.250T= (p.Cys84=) c.181T= (p.Cys61=) n.157T= | |
2 | g.202467522G>A | CA350399510 | BMPR2 | c.251G>A (p.Cys84Tyr) c.182G>A (p.Cys61Tyr) n.158G>A | ClinVar dbSNP |
2 | g.202467522G>C | CA350399511 | BMPR2 | c.251G>C (p.Cys84Ser) c.182G>C (p.Cys61Ser) n.158G>C | |
2 | g.202467522G= | CA1321510385 | BMPR2 | c.251G= (p.Cys84=) c.182G= (p.Cys61=) n.158G= | |
2 | g.202467522G>T | CA350399512 | BMPR2 | c.251G>T (p.Cys84Phe) c.182G>T (p.Cys61Phe) n.158G>T | ClinVar dbSNP |
2 | g.202467523T>A | CA350399513 | BMPR2 | c.252T>A (p.Cys84Ter) c.183T>A (p.Cys61Ter) n.159T>A | |
2 | g.202467523T>C | CA430903783 | BMPR2 | c.252T>C (p.Cys84=) c.183T>C (p.Cys61=) n.159T>C | |
2 | g.202467523T>G | CA350399514 | BMPR2 | c.252T>G (p.Cys84Trp) c.183T>G (p.Cys61Trp) n.159T>G | |
2 | g.202467524T>A | CA350399515 | BMPR2 | c.253T>A (p.Trp85Arg) c.184T>A (p.Trp62Arg) n.160T>A | |
2 | g.202467524T>C | CA350399517 | BMPR2 | c.253T>C (p.Trp85Arg) c.184T>C (p.Trp62Arg) n.160T>C | ClinVar |
2 | g.202467524T>G | CA350399516 | BMPR2 | c.253T>G (p.Trp85Gly) c.184T>G (p.Trp62Gly) n.160T>G | |
2 | g.202467525G>A | CA350399518 | BMPR2 | c.254G>A (p.Trp85Ter) c.185G>A (p.Trp62Ter) n.161G>A | ClinVar |
2 | g.202467525G>C | CA350399519 | BMPR2 | c.254G>C (p.Trp85Ser) c.185G>C (p.Trp62Ser) n.161G>C | |
2 | g.202467525G= | CA1321510397 | BMPR2 | c.254G= (p.Trp85=) c.185G= (p.Trp62=) n.161G= | |
2 | g.202467525G>T | CA64532510 | BMPR2 | c.254G>T (p.Trp85Leu) c.185G>T (p.Trp62Leu) n.161G>T | dbSNP |
2 | g.202467526G>A | CA350399520 | BMPR2 | c.255G>A (p.Trp85Ter) c.186G>A (p.Trp62Ter) n.162G>A | ClinVar dbSNP |
2 | g.202467526G>C | CA350399522 | BMPR2 | c.255G>C (p.Trp85Cys) c.186G>C (p.Trp62Cys) n.162G>C | |
2 | g.202467526G= | CA1321510402 | BMPR2 | c.255G= (p.Trp85=) c.186G= (p.Trp62=) n.162G= | |
2 | g.202467526G>T | CA350399521 | BMPR2 | c.255G>T (p.Trp85Cys) c.186G>T (p.Trp62Cys) n.162G>T | |
2 | g.202467527T>A | CA350399523 | BMPR2 | c.256T>A (p.Ser86Thr) c.187T>A (p.Ser63Thr) n.163T>A | gnomAD v4 |
2 | g.202467527T>C | CA350399525 | BMPR2 | c.256T>C (p.Ser86Pro) c.187T>C (p.Ser63Pro) n.163T>C | gnomAD v4 |
2 | g.202467527T>G | CA350399524 | BMPR2 | c.256T>G (p.Ser86Ala) c.187T>G (p.Ser63Ala) n.163T>G | |
2 | g.202467528C>A | CA350399526 | BMPR2 | c.257C>A (p.Ser86Tyr) c.188C>A (p.Ser63Tyr) n.164C>A | gnomAD v4 |
2 | g.202467528C>G | CA350399527 | BMPR2 | c.257C>G (p.Ser86Cys) c.188C>G (p.Ser63Cys) n.164C>G | |
2 | g.202467528C>T | CA350399528 | BMPR2 | c.257C>T (p.Ser86Phe) c.188C>T (p.Ser63Phe) n.164C>T | |
2 | g.202467529del | CA2586965545 | BMPR2 | c.258del (p.His87ThrfsTer14) c.189del (p.His64ThrfsTer14) n.165del | |
2 | g.202467529T>A | CA430903784 | BMPR2 | c.258T>A (p.Ser86=) c.189T>A (p.Ser63=) n.165T>A | gnomAD v4 |
2 | g.202467529T>C | CA430903785 | BMPR2 | c.258T>C (p.Ser86=) c.189T>C (p.Ser63=) n.165T>C | |
2 | g.202467529T>G | CA430903786 | BMPR2 | c.258T>G (p.Ser86=) c.189T>G (p.Ser63=) n.165T>G | |
2 | g.202467530C>A | CA350399529 | BMPR2 | c.259C>A (p.His87Asn) c.190C>A (p.His64Asn) n.166C>A | gnomAD v4 |
2 | g.202467530C= | CA1321510407 | BMPR2 | c.259C= (p.His87=) c.190C= (p.His64=) n.166C= | |
2 | g.202467530C>G | CA350399530 | BMPR2 | c.259C>G (p.His87Asp) c.190C>G (p.His64Asp) n.166C>G | |
2 | g.202467530C>T | CA350399531 | BMPR2 | c.259C>T (p.His87Tyr) c.190C>T (p.His64Tyr) n.166C>T | |
2 | g.202467531A= | CA1321510414 | BMPR2 | c.260A= (p.His87=) c.191A= (p.His64=) n.167A= | |
2 | g.202467531A>C | CA350399532 | BMPR2 | c.260A>C (p.His87Pro) c.191A>C (p.His64Pro) n.167A>C | |
2 | g.202467531A>G | CA350399533 | BMPR2 | c.260A>G (p.His87Arg) c.191A>G (p.His64Arg) n.167A>G | dbSNP gnomAD v4 |
2 | g.202467531A>T | CA350399534 | BMPR2 | c.260A>T (p.His87Leu) c.191A>T (p.His64Leu) n.167A>T | |
2 | g.202467531dup | CA645294006 | BMPR2 | c.260dup (p.His87GlnfsTer11) c.191dup (p.His64GlnfsTer11) n.167dup | ClinVar dbSNP |
2 | g.202467532C>A | CA350399535 | BMPR2 | c.261C>A (p.His87Gln) c.192C>A (p.His64Gln) n.168C>A | gnomAD v4 |
2 | g.202467532C= | CA1321510418 | BMPR2 | c.261C= (p.His87=) c.192C= (p.His64=) n.168C= | |
2 | g.202467532C>G | CA350399536 | BMPR2 | c.261C>G (p.His87Gln) c.192C>G (p.His64Gln) n.168C>G | |
2 | g.202467532C>T | CA430903787 | BMPR2 | c.261C>T (p.His87=) c.192C>T (p.His64=) n.168C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467533A>C | CA350399539 | BMPR2 | c.262A>C (p.Ile88Leu) c.193A>C (p.Ile65Leu) n.169A>C | |
2 | g.202467533A>G | CA350399537 | BMPR2 | c.262A>G (p.Ile88Val) c.193A>G (p.Ile65Val) n.169A>G | |
2 | g.202467533A>T | CA350399538 | BMPR2 | c.262A>T (p.Ile88Phe) c.193A>T (p.Ile65Phe) n.169A>T | |
2 | g.202467534T>A | CA350399540 | BMPR2 | c.263T>A (p.Ile88Asn) c.194T>A (p.Ile65Asn) n.170T>A | |
2 | g.202467534T>C | CA350399541 | BMPR2 | c.263T>C (p.Ile88Thr) c.194T>C (p.Ile65Thr) n.170T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467534T>G | CA350399542 | BMPR2 | c.263T>G (p.Ile88Ser) c.194T>G (p.Ile65Ser) n.170T>G | |
2 | g.202467534T= | CA1321510421 | BMPR2 | c.263T= (p.Ile88=) c.194T= (p.Ile65=) n.170T= | |
2 | g.202467535T>A | CA430903789 | BMPR2 | c.264T>A (p.Ile88=) c.195T>A (p.Ile65=) n.171T>A | |
2 | g.202467535T>C | CA430903788 | BMPR2 | c.264T>C (p.Ile88=) c.195T>C (p.Ile65=) n.171T>C | |
2 | g.202467535T>G | CA350399543 | BMPR2 | c.264T>G (p.Ile88Met) c.195T>G (p.Ile65Met) n.171T>G | |
2 | g.202467536G>A | CA350399544 | BMPR2 | c.265G>A (p.Gly89Arg) c.196G>A (p.Gly66Arg) n.172G>A | |
2 | g.202467536G>C | CA350399545 | BMPR2 | c.265G>C (p.Gly89Arg) c.196G>C (p.Gly66Arg) n.172G>C | |
2 | g.202467536G>T | CA350399546 | BMPR2 | c.265G>T (p.Gly89Ter) c.196G>T (p.Gly66Ter) n.172G>T | |
2 | g.202467537G>A | CA350399547 | BMPR2 | c.266G>A (p.Gly89Glu) c.197G>A (p.Gly66Glu) n.173G>A | |
2 | g.202467537G>C | CA350399548 | BMPR2 | c.266G>C (p.Gly89Ala) c.197G>C (p.Gly66Ala) n.173G>C | ClinVar dbSNP |
2 | g.202467537G= | CA1321510423 | BMPR2 | c.266G= (p.Gly89=) c.197G= (p.Gly66=) n.173G= | |
2 | g.202467537G>T | CA350399549 | BMPR2 | c.266G>T (p.Gly89Val) c.197G>T (p.Gly66Val) n.173G>T | |
2 | g.202467538A>C | CA430903791 | BMPR2 | c.267A>C (p.Gly89=) c.198A>C (p.Gly66=) n.174A>C | gnomAD v4 |
2 | g.202467538A>G | CA430903792 | BMPR2 | c.267A>G (p.Gly89=) c.198A>G (p.Gly66=) n.174A>G | gnomAD v4 |
2 | g.202467538A>T | CA430903790 | BMPR2 | c.267A>T (p.Gly89=) c.198A>T (p.Gly66=) n.174A>T | |
2 | g.202467539G>A | CA350399551 | BMPR2 | c.268G>A (p.Asp90Asn) c.199G>A (p.Asp67Asn) n.175G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467539G>C | CA350399552 | BMPR2 | c.268G>C (p.Asp90His) c.199G>C (p.Asp67His) n.175G>C | COSMIC |
2 | g.202467539G= | CA1321510427 | BMPR2 | c.268G= (p.Asp90=) c.199G= (p.Asp67=) n.175G= | |
2 | g.202467539G>T | CA350399550 | BMPR2 | c.268G>T (p.Asp90Tyr) c.199G>T (p.Asp67Tyr) n.175G>T | |
2 | g.202467540A= | CA1321510429 | BMPR2 | c.269A= (p.Asp90=) c.200A= (p.Asp67=) n.176A= | |
2 | g.202467540A>C | CA350399553 | BMPR2 | c.269A>C (p.Asp90Ala) c.200A>C (p.Asp67Ala) n.176A>C | |
2 | g.202467540A>G | CA350399554 | BMPR2 | c.269A>G (p.Asp90Gly) c.200A>G (p.Asp67Gly) n.176A>G | |
2 | g.202467540A>T | CA350399555 | BMPR2 | c.269A>T (p.Asp90Val) c.200A>T (p.Asp67Val) n.176A>T | |
2 | g.202467541T>A | CA350399556 | BMPR2 | c.270T>A (p.Asp90Glu) c.201T>A (p.Asp67Glu) n.177T>A | |
2 | g.202467541T>C | CA430903793 | BMPR2 | c.270T>C (p.Asp90=) c.201T>C (p.Asp67=) n.177T>C | |
2 | g.202467541T>G | CA350399557 | BMPR2 | c.270T>G (p.Asp90Glu) c.201T>G (p.Asp67Glu) n.177T>G | |
2 | g.202467541dup | CA915941497 | BMPR2 | c.270dup (p.Pro91SerfsTer7) c.201dup (p.Pro68SerfsTer7) n.177dup | |
2 | g.202467541_202467542delinsTC | CA1321510436 | BMPR2 | c.270_271delinsTC (p.Asp90=) c.201_202delinsTC (p.Asp67=) n.177_178delinsTC | |
2 | g.202467542C>A | CA350399558 | BMPR2 | c.271C>A (p.Pro91Thr) c.202C>A (p.Pro68Thr) n.178C>A | dbSNP gnomAD v4 |
2 | g.202467542C= | CA1321510444 | BMPR2 | c.271C= (p.Pro91=) c.202C= (p.Pro68=) n.178C= | |
2 | g.202467542C>G | CA350399559 | BMPR2 | c.271C>G (p.Pro91Ala) c.202C>G (p.Pro68Ala) n.178C>G | |
2 | g.202467542C>T | CA2061078 | BMPR2 | c.271C>T (p.Pro91Ser) c.202C>T (p.Pro68Ser) n.178C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467545del | CA915941498 | BMPR2 | c.274del (p.Gln92LysfsTer9) c.205del (p.Gln69LysfsTer9) n.181del | ClinVar dbSNP |
2 | g.202467543C>A | CA350399560 | BMPR2 | c.272C>A (p.Pro91His) c.203C>A (p.Pro68His) n.179C>A | |
2 | g.202467543C= | CA1321510454 | BMPR2 | c.272C= (p.Pro91=) c.203C= (p.Pro68=) n.179C= | |
2 | g.202467543C>G | CA350399561 | BMPR2 | c.272C>G (p.Pro91Arg) c.203C>G (p.Pro68Arg) n.179C>G | gnomAD v4 |
2 | g.202467543C>T | CA64532511 | BMPR2 | c.272C>T (p.Pro91Leu) c.203C>T (p.Pro68Leu) n.179C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467544C>A | CA430903796 | BMPR2 | c.273C>A (p.Pro91=) c.204C>A (p.Pro68=) n.180C>A | gnomAD v4 |
2 | g.202467544C= | CA1321510457 | BMPR2 | c.273C= (p.Pro91=) c.204C= (p.Pro68=) n.180C= | |
2 | g.202467544C>G | CA430903794 | BMPR2 | c.273C>G (p.Pro91=) c.204C>G (p.Pro68=) n.180C>G | dbSNP |
2 | g.202467544C>T | CA430903795 | BMPR2 | c.273C>T (p.Pro91=) c.204C>T (p.Pro68=) n.180C>T | dbSNP |
2 | g.202467545C>A | CA350399563 | BMPR2 | c.274C>A (p.Gln92Lys) c.205C>A (p.Gln69Lys) n.181C>A | gnomAD v4 |
2 | g.202467545C= | CA1321510460 | BMPR2 | c.274C= (p.Gln92=) c.205C= (p.Gln69=) n.181C= | |
2 | g.202467545C>G | CA350399564 | BMPR2 | c.274C>G (p.Gln92Glu) c.205C>G (p.Gln69Glu) n.181C>G | |
2 | g.202467545C>T | CA350399562 | BMPR2 | c.274C>T (p.Gln92Ter) c.205C>T (p.Gln69Ter) n.181C>T | ClinVar dbSNP |
2 | g.202467546A= | CA1321510464 | BMPR2 | c.275A= (p.Gln92=) c.206A= (p.Gln69=) n.182A= | |
2 | g.202467546A>C | CA2061079 | BMPR2 | c.275A>C (p.Gln92Pro) c.206A>C (p.Gln69Pro) n.182A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467546A>G | CA350399565 | BMPR2 | c.275A>G (p.Gln92Arg) c.206A>G (p.Gln69Arg) n.182A>G | |
2 | g.202467546A>T | CA350399566 | BMPR2 | c.275A>T (p.Gln92Leu) c.206A>T (p.Gln69Leu) n.182A>T | |
2 | g.202467547A= | CA1321510469 | BMPR2 | c.276A= (p.Gln92=) c.207A= (p.Gln69=) n.183A= | |
2 | g.202467547A>C | CA2061080 | BMPR2 | c.276A>C (p.Gln92His) c.207A>C (p.Gln69His) n.183A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467547A>G | CA430903797 | BMPR2 | c.276A>G (p.Gln92=) c.207A>G (p.Gln69=) n.183A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467547A>T | CA350399567 | BMPR2 | c.276A>T (p.Gln92His) c.207A>T (p.Gln69His) n.183A>T | |
2 | g.202467549_202467550del | CA2586965547 | BMPR2 | c.278_279del (p.Glu93ValfsTer4) c.209_210del (p.Glu70ValfsTer4) n.185_186del | |
2 | g.202467548G>A | CA350399570 | BMPR2 | c.277G>A (p.Glu93Lys) c.208G>A (p.Glu70Lys) n.184G>A | gnomAD v4 |
2 | g.202467548G>C | CA350399568 | BMPR2 | c.277G>C (p.Glu93Gln) c.208G>C (p.Glu70Gln) n.184G>C | dbSNP gnomAD v4 |
2 | g.202467548G= | CA1321510477 | BMPR2 | c.277G= (p.Glu93=) c.208G= (p.Glu70=) n.184G= | |
2 | g.202467548G>T | CA350399569 | BMPR2 | c.277G>T (p.Glu93Ter) c.208G>T (p.Glu70Ter) n.184G>T | |
2 | g.202467548dup | CA645294007 | BMPR2 | c.277dup (p.Glu93GlyfsTer5) c.208dup (p.Glu70GlyfsTer5) n.184dup | ClinVar dbSNP |
2 | g.202467549A>C | CA350399571 | BMPR2 | c.278A>C (p.Glu93Ala) c.209A>C (p.Glu70Ala) n.185A>C | |
2 | g.202467549A>G | CA350399572 | BMPR2 | c.278A>G (p.Glu93Gly) c.209A>G (p.Glu70Gly) n.185A>G | |
2 | g.202467549A>T | CA350399573 | BMPR2 | c.278A>T (p.Glu93Val) c.209A>T (p.Glu70Val) n.185A>T | gnomAD v4 |
2 | g.202467550G>A | CA430903798 | BMPR2 | c.279G>A (p.Glu93=) c.210G>A (p.Glu70=) n.186G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467550G>C | CA350399574 | BMPR2 | c.279G>C (p.Glu93Asp) c.210G>C (p.Glu70Asp) n.186G>C | |
2 | g.202467550G= | CA1321510481 | BMPR2 | c.279G= (p.Glu93=) c.210G= (p.Glu70=) n.186G= | |
2 | g.202467550G>T | CA350399575 | BMPR2 | c.279G>T (p.Glu93Asp) c.210G>T (p.Glu70Asp) n.186G>T | |
2 | g.202467551T>A | CA350399578 | BMPR2 | c.280T>A (p.Cys94Ser) c.211T>A (p.Cys71Ser) n.187T>A | |
2 | g.202467551T>C | CA350399577 | BMPR2 | c.280T>C (p.Cys94Arg) c.211T>C (p.Cys71Arg) n.187T>C | ClinVar dbSNP |
2 | g.202467551T>G | CA350399576 | BMPR2 | c.280T>G (p.Cys94Gly) c.211T>G (p.Cys71Gly) n.187T>G | ClinVar dbSNP |
2 | g.202467551T= | CA1321510488 | BMPR2 | c.280T= (p.Cys94=) c.211T= (p.Cys71=) n.187T= | |
2 | g.202467552G>A | CA350399579 | BMPR2 | c.281G>A (p.Cys94Tyr) c.212G>A (p.Cys71Tyr) n.188G>A | |
2 | g.202467552G>C | CA350399581 | BMPR2 | c.281G>C (p.Cys94Ser) c.212G>C (p.Cys71Ser) n.188G>C | |
2 | g.202467552G>T | CA350399580 | BMPR2 | c.281G>T (p.Cys94Phe) c.212G>T (p.Cys71Phe) n.188G>T | |
2 | g.202467553T>A | CA350399582 | BMPR2 | c.282T>A (p.Cys94Ter) c.213T>A (p.Cys71Ter) n.189T>A | |
2 | g.202467553T>C | CA430903799 | BMPR2 | c.282T>C (p.Cys94=) c.213T>C (p.Cys71=) n.189T>C | |
2 | g.202467553T>G | CA350399583 | BMPR2 | c.282T>G (p.Cys94Trp) c.213T>G (p.Cys71Trp) n.189T>G | |
2 | g.202467554C>A | CA350399584 | BMPR2 | c.283C>A (p.His95Asn) c.214C>A (p.His72Asn) n.190C>A | |
2 | g.202467554C>G | CA350399585 | BMPR2 | c.283C>G (p.His95Asp) c.214C>G (p.His72Asp) n.190C>G | |
2 | g.202467554C>T | CA350399586 | BMPR2 | c.283C>T (p.His95Tyr) c.214C>T (p.His72Tyr) n.190C>T | gnomAD v4 |
2 | g.202467555A>C | CA350399587 | BMPR2 | c.284A>C (p.His95Pro) c.215A>C (p.His72Pro) n.191A>C | |
2 | g.202467555A>G | CA350399588 | BMPR2 | c.284A>G (p.His95Arg) c.215A>G (p.His72Arg) n.191A>G | gnomAD v4 |
2 | g.202467555A>T | CA350399589 | BMPR2 | c.284A>T (p.His95Leu) c.215A>T (p.His72Leu) n.191A>T | |
2 | g.202467556C>A | CA350399590 | BMPR2 | c.285C>A (p.His95Gln) c.216C>A (p.His72Gln) n.192C>A | |
2 | g.202467556C>G | CA350399591 | BMPR2 | c.285C>G (p.His95Gln) c.216C>G (p.His72Gln) n.192C>G | |
2 | g.202467556C>T | CA430903800 | BMPR2 | c.285C>T (p.His95=) c.216C>T (p.His72=) n.192C>T | |
2 | g.202467557T>A | CA350399593 | BMPR2 | c.286T>A (p.Tyr96Asn) c.217T>A (p.Tyr73Asn) n.193T>A | |
2 | g.202467557T>C | CA2061081 | BMPR2 | c.286T>C (p.Tyr96His) c.217T>C (p.Tyr73His) n.193T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467557T>G | CA350399592 | BMPR2 | c.286T>G (p.Tyr96Asp) c.217T>G (p.Tyr73Asp) n.193T>G | |
2 | g.202467557T= | CA1321510495 | BMPR2 | c.286T= (p.Tyr96=) c.217T= (p.Tyr73=) n.193T= | |
2 | g.202467558_202467559del | CA2586965550 | BMPR2 | c.287_288del (p.Tyr96Ter) c.218_219del (p.Tyr73Ter) n.194_195del | |
2 | g.202467558A= | CA1321510498 | BMPR2 | c.287A= (p.Tyr96=) c.218A= (p.Tyr73=) n.194A= | |
2 | g.202467558A>C | CA350399594 | BMPR2 | c.287A>C (p.Tyr96Ser) c.218A>C (p.Tyr73Ser) n.194A>C | |
2 | g.202467558A>G | CA350399595 | BMPR2 | c.287A>G (p.Tyr96Cys) c.218A>G (p.Tyr73Cys) n.194A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467558A>T | CA350399596 | BMPR2 | c.287A>T (p.Tyr96Phe) c.218A>T (p.Tyr73Phe) n.194A>T | gnomAD v4 |
2 | g.202467559T>A | CA350399597 | BMPR2 | c.288T>A (p.Tyr96Ter) c.219T>A (p.Tyr73Ter) n.195T>A | |
2 | g.202467559T>C | CA2061082 | BMPR2 | c.288T>C (p.Tyr96=) c.219T>C (p.Tyr73=) n.195T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467559T>G | CA350399598 | BMPR2 | c.288T>G (p.Tyr96Ter) c.219T>G (p.Tyr73Ter) n.195T>G | ClinVar dbSNP |
2 | g.202467559T= | CA1321510501 | BMPR2 | c.288T= (p.Tyr96=) c.219T= (p.Tyr73=) n.195T= | |
2 | g.202467560G>A | CA350399599 | BMPR2 | c.289G>A (p.Glu97Lys) c.220G>A (p.Glu74Lys) n.196G>A | gnomAD v4 |
2 | g.202467560G>C | CA350399600 | BMPR2 | c.289G>C (p.Glu97Gln) c.220G>C (p.Glu74Gln) n.196G>C | |
2 | g.202467560G>T | CA350399601 | BMPR2 | c.289G>T (p.Glu97Ter) c.220G>T (p.Glu74Ter) n.196G>T | |
2 | g.202467561A>C | CA350399602 | BMPR2 | c.290A>C (p.Glu97Ala) c.221A>C (p.Glu74Ala) n.197A>C | |
2 | g.202467561A>G | CA350399603 | BMPR2 | c.290A>G (p.Glu97Gly) c.221A>G (p.Glu74Gly) n.197A>G | |
2 | g.202467561A>T | CA350399604 | BMPR2 | c.290A>T (p.Glu97Val) c.221A>T (p.Glu74Val) n.197A>T | |
2 | g.202467562A>C | CA350399606 | BMPR2 | c.291A>C (p.Glu97Asp) c.222A>C (p.Glu74Asp) n.198A>C | |
2 | g.202467562A>G | CA430903802 | BMPR2 | c.291A>G (p.Glu97=) c.222A>G (p.Glu74=) n.198A>G | |
2 | g.202467562A>T | CA350399605 | BMPR2 | c.291A>T (p.Glu97Asp) c.222A>T (p.Glu74Asp) n.198A>T | |
2 | g.202467563G>A | CA350399607 | BMPR2 | c.292G>A (p.Glu98Lys) c.223G>A (p.Glu75Lys) n.199G>A | ClinVar dbSNP |
2 | g.202467563G>C | CA350399608 | BMPR2 | c.292G>C (p.Glu98Gln) c.223G>C (p.Glu75Gln) n.199G>C | |
2 | g.202467563G= | CA1321510508 | BMPR2 | c.292G= (p.Glu98=) c.223G= (p.Glu75=) n.199G= | |
2 | g.202467563G>T | CA350399609 | BMPR2 | c.292G>T (p.Glu98Ter) c.223G>T (p.Glu75Ter) n.199G>T | ClinVar dbSNP |
2 | g.202467564A= | CA1321510517 | BMPR2 | c.293A= (p.Glu98=) c.224A= (p.Glu75=) n.200A= | |
2 | g.202467564A>C | CA350399610 | BMPR2 | c.293A>C (p.Glu98Ala) c.224A>C (p.Glu75Ala) n.200A>C | |
2 | g.202467564A>G | CA2061083 | BMPR2 | c.293A>G (p.Glu98Gly) c.224A>G (p.Glu75Gly) n.200A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467564A>T | CA350399611 | BMPR2 | c.293A>T (p.Glu98Val) c.224A>T (p.Glu75Val) n.200A>T | |
2 | g.202467565A= | CA1321510519 | BMPR2 | c.294A= (p.Glu98=) c.225A= (p.Glu75=) n.201A= | |
2 | g.202467565A>C | CA350399612 | BMPR2 | c.294A>C (p.Glu98Asp) c.225A>C (p.Glu75Asp) n.201A>C | |
2 | g.202467565A>G | CA430903803 | BMPR2 | c.294A>G (p.Glu98=) c.225A>G (p.Glu75=) n.201A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467565A>T | CA350399613 | BMPR2 | c.294A>T (p.Glu98Asp) c.225A>T (p.Glu75Asp) n.201A>T | |
2 | g.202467566T>A | CA350399614 | BMPR2 | c.295T>A (p.Cys99Ser) c.226T>A (p.Cys76Ser) n.202T>A | |
2 | g.202467566T>C | CA320754 | BMPR2 | c.295T>C (p.Cys99Arg) c.226T>C (p.Cys76Arg) n.202T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467566T>G | CA350399615 | BMPR2 | c.295T>G (p.Cys99Gly) c.226T>G (p.Cys76Gly) n.202T>G | |
2 | g.202467566T= | CA1321510523 | BMPR2 | c.295T= (p.Cys99=) c.226T= (p.Cys76=) n.202T= | |
2 | g.202467567G>A | CA350399616 | BMPR2 | c.296G>A (p.Cys99Tyr) c.227G>A (p.Cys76Tyr) n.203G>A | ClinVar dbSNP |
2 | g.202467567G>C | CA350399617 | BMPR2 | c.296G>C (p.Cys99Ser) c.227G>C (p.Cys76Ser) n.203G>C | |
2 | g.202467567G= | CA1321510529 | BMPR2 | c.296G= (p.Cys99=) c.227G= (p.Cys76=) n.203G= | |
2 | g.202467567G>T | CA350399618 | BMPR2 | c.296G>T (p.Cys99Phe) c.227G>T (p.Cys76Phe) n.203G>T | ClinVar dbSNP |
2 | g.202467568T>A | CA350399619 | BMPR2 | c.297T>A (p.Cys99Ter) c.228T>A (p.Cys76Ter) n.204T>A | |
2 | g.202467568T>C | CA430903804 | BMPR2 | c.297T>C (p.Cys99=) c.228T>C (p.Cys76=) n.204T>C | |
2 | g.202467568T>G | CA350399620 | BMPR2 | c.297T>G (p.Cys99Trp) c.228T>G (p.Cys76Trp) n.204T>G | ClinVar dbSNP |
2 | g.202467569G>A | CA350399621 | BMPR2 | c.298G>A (p.Val100Ile) c.229G>A (p.Val77Ile) n.205G>A | |
2 | g.202467569G>C | CA350399622 | BMPR2 | c.298G>C (p.Val100Leu) c.229G>C (p.Val77Leu) n.205G>C | |
2 | g.202467569G>T | CA350399623 | BMPR2 | c.298G>T (p.Val100Leu) c.229G>T (p.Val77Leu) n.205G>T | |
2 | g.202467570T>A | CA350399624 | BMPR2 | c.299T>A (p.Val100Glu) c.230T>A (p.Val77Glu) n.206T>A | |
2 | g.202467570T>C | CA350399625 | BMPR2 | c.299T>C (p.Val100Ala) c.230T>C (p.Val77Ala) n.206T>C | |
2 | g.202467570T>G | CA350399626 | BMPR2 | c.299T>G (p.Val100Gly) c.230T>G (p.Val77Gly) n.206T>G | |
2 | g.202467571A>C | CA430903805 | BMPR2 | c.300A>C (p.Val100=) c.231A>C (p.Val77=) n.207A>C | |
2 | g.202467571A>G | CA430903807 | BMPR2 | c.300A>G (p.Val100=) c.231A>G (p.Val77=) n.207A>G | gnomAD v4 |
2 | g.202467571A>T | CA430903808 | BMPR2 | c.300A>T (p.Val100=) c.231A>T (p.Val77=) n.207A>T | |
2 | g.202467572G>A | CA350399627 | BMPR2 | c.301G>A (p.Val101Ile) c.232G>A (p.Val78Ile) n.208G>A | |
2 | g.202467572G>C | CA350399628 | BMPR2 | c.301G>C (p.Val101Leu) c.232G>C (p.Val78Leu) n.208G>C | |
2 | g.202467572G>T | CA350399629 | BMPR2 | c.301G>T (p.Val101Leu) c.232G>T (p.Val78Leu) n.208G>T | |
2 | g.202467573T>A | CA350399630 | BMPR2 | c.302T>A (p.Val101Glu) c.233T>A (p.Val78Glu) n.209T>A | |
2 | g.202467573T>C | CA2061084 | BMPR2 | c.302T>C (p.Val101Ala) c.233T>C (p.Val78Ala) n.209T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467573T>G | CA350399631 | BMPR2 | c.302T>G (p.Val101Gly) c.233T>G (p.Val78Gly) n.209T>G | |
2 | g.202467573T= | CA1321510536 | BMPR2 | c.302T= (p.Val101=) c.233T= (p.Val78=) n.209T= | |
2 | g.202467574A>C | CA430903810 | BMPR2 | c.303A>C (p.Val101=) c.234A>C (p.Val78=) n.210A>C | |
2 | g.202467574A>G | CA430903811 | BMPR2 | c.303A>G (p.Val101=) c.234A>G (p.Val78=) n.210A>G | |
2 | g.202467574A>T | CA430903812 | BMPR2 | c.303A>T (p.Val101=) c.234A>T (p.Val78=) n.210A>T | |
2 | g.202467574_202467577delinsAACT | CA1321510538 | BMPR2 | c.303_306delinsAACT (p.Val101=) c.234_237delinsAACT (p.Val78=) n.210_213delinsAACT | |
2 | g.202467575A= | CA1321510542 | BMPR2 | c.304A= (p.Thr102=) c.235A= (p.Thr79=) n.211A= | |
2 | g.202467575A>C | CA350399633 | BMPR2 | c.304A>C (p.Thr102Pro) c.235A>C (p.Thr79Pro) n.211A>C | |
2 | g.202467575A>G | CA350399632 | BMPR2 | c.304A>G (p.Thr102Ala) c.235A>G (p.Thr79Ala) n.211A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467575A>T | CA350399634 | BMPR2 | c.304A>T (p.Thr102Ser) c.235A>T (p.Thr79Ser) n.211A>T | |
2 | g.202467577_202467579del | CA2061085 | BMPR2 | c.306_308del (p.Thr103del) c.237_239del (p.Thr80del) n.213_215del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467576C>A | CA350399637 | BMPR2 | c.305C>A (p.Thr102Asn) c.236C>A (p.Thr79Asn) n.212C>A | |
2 | g.202467576C>G | CA350399635 | BMPR2 | c.305C>G (p.Thr102Ser) c.236C>G (p.Thr79Ser) n.212C>G | |
2 | g.202467576C>T | CA350399636 | BMPR2 | c.305C>T (p.Thr102Ile) c.236C>T (p.Thr79Ile) n.212C>T | |
2 | g.202467577T>A | CA430903814 | BMPR2 | c.306T>A (p.Thr102=) c.237T>A (p.Thr79=) n.213T>A | |
2 | g.202467577T>C | CA430903815 | BMPR2 | c.306T>C (p.Thr102=) c.237T>C (p.Thr79=) n.213T>C | |
2 | g.202467577T>G | CA430903816 | BMPR2 | c.306T>G (p.Thr102=) c.237T>G (p.Thr79=) n.213T>G | |
2 | g.202467578A= | CA1321510545 | BMPR2 | c.307A= (p.Thr103=) c.238A= (p.Thr80=) n.214A= | |
2 | g.202467578A>C | CA350399638 | BMPR2 | c.307A>C (p.Thr103Pro) c.238A>C (p.Thr80Pro) n.214A>C | |
2 | g.202467578A>G | CA350399639 | BMPR2 | c.307A>G (p.Thr103Ala) c.238A>G (p.Thr80Ala) n.214A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467578A>T | CA350399640 | BMPR2 | c.307A>T (p.Thr103Ser) c.238A>T (p.Thr80Ser) n.214A>T | |
2 | g.202467579C>A | CA350399642 | BMPR2 | c.308C>A (p.Thr103Asn) c.239C>A (p.Thr80Asn) n.215C>A | |
2 | g.202467579C= | CA1321510550 | BMPR2 | c.308C= (p.Thr103=) c.239C= (p.Thr80=) n.215C= | |
2 | g.202467579C>G | CA350399641 | BMPR2 | c.308C>G (p.Thr103Ser) c.239C>G (p.Thr80Ser) n.215C>G | gnomAD v4 |
2 | g.202467579C>T | CA2061086 | BMPR2 | c.308C>T (p.Thr103Ile) c.239C>T (p.Thr80Ile) n.215C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467580C>A | CA430903819 | BMPR2 | c.309C>A (p.Thr103=) c.240C>A (p.Thr80=) n.216C>A | |
2 | g.202467580C>G | CA430903818 | BMPR2 | c.309C>G (p.Thr103=) c.240C>G (p.Thr80=) n.216C>G | |
2 | g.202467580C>T | CA430903817 | BMPR2 | c.309C>T (p.Thr103=) c.240C>T (p.Thr80=) n.216C>T | |
2 | g.202467581A= | CA1321510553 | BMPR2 | c.310A= (p.Thr104=) c.241A= (p.Thr81=) n.217A= | |
2 | g.202467581A>C | CA2061087 | BMPR2 | c.310A>C (p.Thr104Pro) c.241A>C (p.Thr81Pro) n.217A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467581A>G | CA350399643 | BMPR2 | c.310A>G (p.Thr104Ala) c.241A>G (p.Thr81Ala) n.217A>G | gnomAD v4 |
2 | g.202467581A>T | CA350399644 | BMPR2 | c.310A>T (p.Thr104Ser) c.241A>T (p.Thr81Ser) n.217A>T | gnomAD v4 |
2 | g.202467582C>A | CA350399645 | BMPR2 | c.311C>A (p.Thr104Asn) c.242C>A (p.Thr81Asn) n.218C>A | |
2 | g.202467582C>G | CA350399646 | BMPR2 | c.311C>G (p.Thr104Ser) c.242C>G (p.Thr81Ser) n.218C>G | gnomAD v4 |
2 | g.202467582C>T | CA350399647 | BMPR2 | c.311C>T (p.Thr104Ile) c.242C>T (p.Thr81Ile) n.218C>T | |
2 | g.202467583T>A | CA430903820 | BMPR2 | c.312T>A (p.Thr104=) c.243T>A (p.Thr81=) n.219T>A | dbSNP |
2 | g.202467583T>C | CA430903822 | BMPR2 | c.312T>C (p.Thr104=) c.243T>C (p.Thr81=) n.219T>C | |
2 | g.202467583T>G | CA430903821 | BMPR2 | c.312T>G (p.Thr104=) c.243T>G (p.Thr81=) n.219T>G | gnomAD v4 |
2 | g.202467583T= | CA1321510559 | BMPR2 | c.312T= (p.Thr104=) c.243T= (p.Thr81=) n.219T= | |
2 | g.202467583_202467584delinsTC | CA1321510560 | BMPR2 | c.312_313delinsTC (p.Thr104=) c.243_244delinsTC (p.Thr81=) n.219_220delinsTC | |
2 | g.202467584C>A | CA350399649 | BMPR2 | c.313C>A (p.Pro105Thr) c.244C>A (p.Pro82Thr) n.220C>A | |
2 | g.202467584C= | CA1321510565 | BMPR2 | c.313C= (p.Pro105=) c.244C= (p.Pro82=) n.220C= | |
2 | g.202467584C>G | CA2061088 | BMPR2 | c.313C>G (p.Pro105Ala) c.244C>G (p.Pro82Ala) n.220C>G | dbSNP ExAC gnomAD v2 |
2 | g.202467584C>T | CA350399648 | BMPR2 | c.313C>T (p.Pro105Ser) c.244C>T (p.Pro82Ser) n.220C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467585del | CA915941499 | BMPR2 | c.314del (p.Pro105LeufsTer?) c.245del (p.Pro82LeufsTer?) n.221del | ClinVar dbSNP gnomAD v4 |
2 | g.202467585C>A | CA350399650 | BMPR2 | c.314C>A (p.Pro105His) c.245C>A (p.Pro82His) n.221C>A | |
2 | g.202467585C>G | CA350399651 | BMPR2 | c.314C>G (p.Pro105Arg) c.245C>G (p.Pro82Arg) n.221C>G | |
2 | g.202467585C>T | CA350399652 | BMPR2 | c.314C>T (p.Pro105Leu) c.245C>T (p.Pro82Leu) n.221C>T | |
2 | g.202467586T>A | CA430903823 | BMPR2 | c.315T>A (p.Pro105=) c.246T>A (p.Pro82=) n.222T>A | |
2 | g.202467586T>C | CA430903824 | BMPR2 | c.315T>C (p.Pro105=) c.246T>C (p.Pro82=) n.222T>C | |
2 | g.202467586T>G | CA430903825 | BMPR2 | c.315T>G (p.Pro105=) c.246T>G (p.Pro82=) n.222T>G | |
2 | g.202467587C>A | CA350399653 | BMPR2 | c.316C>A (p.Pro106Thr) c.247C>A (p.Pro83Thr) n.223C>A | |
2 | g.202467587C>G | CA350399654 | BMPR2 | c.316C>G (p.Pro106Ala) c.247C>G (p.Pro83Ala) n.223C>G | |
2 | g.202467587C>T | CA350399655 | BMPR2 | c.316C>T (p.Pro106Ser) c.247C>T (p.Pro83Ser) n.223C>T | gnomAD v4 |
2 | g.202467589del | CA2577215519 | BMPR2 | c.318del (p.Ser107GlnfsTer?) c.249del (p.Ser84GlnfsTer?) n.225del | |
2 | g.202467588C>A | CA350399656 | BMPR2 | c.317C>A (p.Pro106His) c.248C>A (p.Pro83His) n.224C>A | |
2 | g.202467588C= | CA1321510569 | BMPR2 | c.317C= (p.Pro106=) c.248C= (p.Pro83=) n.224C= | |
2 | g.202467588C>G | CA350399657 | BMPR2 | c.317C>G (p.Pro106Arg) c.248C>G (p.Pro83Arg) n.224C>G | |
2 | g.202467588C>T | CA2061089 | BMPR2 | c.317C>T (p.Pro106Leu) c.248C>T (p.Pro83Leu) n.224C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467589C>A | CA430903826 | BMPR2 | c.318C>A (p.Pro106=) c.249C>A (p.Pro83=) n.225C>A | gnomAD v4 |
2 | g.202467589C>G | CA430903827 | BMPR2 | c.318C>G (p.Pro106=) c.249C>G (p.Pro83=) n.225C>G | |
2 | g.202467589C>T | CA430903828 | BMPR2 | c.318C>T (p.Pro106=) c.249C>T (p.Pro83=) n.225C>T | |
2 | g.202467590T>A | CA350399658 | BMPR2 | c.319T>A (p.Ser107Thr) c.250T>A (p.Ser84Thr) n.226T>A | |
2 | g.202467590T>C | CA350399659 | BMPR2 | c.319T>C (p.Ser107Pro) c.250T>C (p.Ser84Pro) n.226T>C | ClinVar dbSNP |
2 | g.202467590T>G | CA350399660 | BMPR2 | c.319T>G (p.Ser107Ala) c.250T>G (p.Ser84Ala) n.226T>G | |
2 | g.202467590T= | CA1321510573 | BMPR2 | c.319T= (p.Ser107=) c.250T= (p.Ser84=) n.226T= | |
2 | g.202467591C>A | CA350399661 | BMPR2 | c.320C>A (p.Ser107Ter) c.251C>A (p.Ser84Ter) n.227C>A | ClinVar dbSNP gnomAD v4 |
2 | g.202467591C= | CA1321510576 | BMPR2 | c.320C= (p.Ser107=) c.251C= (p.Ser84=) n.227C= | |
2 | g.202467591C>G | CA350399663 | BMPR2 | c.320C>G (p.Ser107Ter) c.251C>G (p.Ser84Ter) n.227C>G | ClinVar dbSNP |
2 | g.202467591C>T | CA350399662 | BMPR2 | c.320C>T (p.Ser107Leu) c.251C>T (p.Ser84Leu) n.227C>T | dbSNP gnomAD v4 |
2 | g.202467592A>C | CA430903829 | BMPR2 | c.321A>C (p.Ser107=) c.252A>C (p.Ser84=) n.228A>C | |
2 | g.202467592A>G | CA430903830 | BMPR2 | c.321A>G (p.Ser107=) c.252A>G (p.Ser84=) n.228A>G | |
2 | g.202467592A>T | CA430903831 | BMPR2 | c.321A>T (p.Ser107=) c.252A>T (p.Ser84=) n.228A>T | |
2 | g.202467593A= | CA1321510579 | BMPR2 | c.322A= (p.Ile108=) c.253A= (p.Ile85=) n.229A= | |
2 | g.202467593A>C | CA350399664 | BMPR2 | c.322A>C (p.Ile108Leu) c.253A>C (p.Ile85Leu) n.229A>C | |
2 | g.202467593A>G | CA2061090 | BMPR2 | c.322A>G (p.Ile108Val) c.253A>G (p.Ile85Val) n.229A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467593A>T | CA350399665 | BMPR2 | c.322A>T (p.Ile108Phe) c.253A>T (p.Ile85Phe) n.229A>T | gnomAD v4 |
2 | g.202467594T>A | CA350399666 | BMPR2 | c.323T>A (p.Ile108Asn) c.254T>A (p.Ile85Asn) n.230T>A | |
2 | g.202467594T>C | CA2061091 | BMPR2 | c.323T>C (p.Ile108Thr) c.254T>C (p.Ile85Thr) n.230T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467594T>G | CA350399667 | BMPR2 | c.323T>G (p.Ile108Ser) c.254T>G (p.Ile85Ser) n.230T>G | |
2 | g.202467594T= | CA1321510582 | BMPR2 | c.323T= (p.Ile108=) c.254T= (p.Ile85=) n.230T= | |
2 | g.202467595T>A | CA430903832 | BMPR2 | c.324T>A (p.Ile108=) c.255T>A (p.Ile85=) n.231T>A | |
2 | g.202467595T>C | CA430903833 | BMPR2 | c.324T>C (p.Ile108=) c.255T>C (p.Ile85=) n.231T>C | |
2 | g.202467595T>G | CA350399668 | BMPR2 | c.324T>G (p.Ile108Met) c.255T>G (p.Ile85Met) n.231T>G | |
2 | g.202467596C>A | CA350399669 | BMPR2 | c.325C>A (p.Gln109Lys) c.256C>A (p.Gln86Lys) n.232C>A | dbSNP |
2 | g.202467596C= | CA1321510585 | BMPR2 | c.325C= (p.Gln109=) c.256C= (p.Gln86=) n.232C= | |
2 | g.202467596C>G | CA350399670 | BMPR2 | c.325C>G (p.Gln109Glu) c.256C>G (p.Gln86Glu) n.232C>G | |
2 | g.202467596C>T | CA350399671 | BMPR2 | c.325C>T (p.Gln109Ter) c.256C>T (p.Gln86Ter) n.232C>T | |
2 | g.202467597A>C | CA350399672 | BMPR2 | c.326A>C (p.Gln109Pro) c.257A>C (p.Gln86Pro) n.233A>C | |
2 | g.202467597A>G | CA350399673 | BMPR2 | c.326A>G (p.Gln109Arg) c.257A>G (p.Gln86Arg) n.233A>G | |
2 | g.202467597A>T | CA350399674 | BMPR2 | c.326A>T (p.Gln109Leu) c.257A>T (p.Gln86Leu) n.233A>T | |
2 | g.202467598G>A | CA64532512 | BMPR2 | c.327G>A (p.Gln109=) c.258G>A (p.Gln86=) n.234G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467598G>C | CA350399675 | BMPR2 | c.327G>C (p.Gln109His) c.258G>C (p.Gln86His) n.234G>C | |
2 | g.202467598G= | CA1321510587 | BMPR2 | c.327G= (p.Gln109=) c.258G= (p.Gln86=) n.234G= | |
2 | g.202467598G>T | CA350399676 | BMPR2 | c.327G>T (p.Gln109His) c.258G>T (p.Gln86His) n.234G>T | |
2 | g.202467599A>C | CA350399677 | BMPR2 | c.328A>C (p.Asn110His) c.259A>C (p.Asn87His) n.235A>C | |
2 | g.202467599A>G | CA350399678 | BMPR2 | c.328A>G (p.Asn110Asp) c.259A>G (p.Asn87Asp) n.235A>G | |
2 | g.202467599A>T | CA350399679 | BMPR2 | c.328A>T (p.Asn110Tyr) c.259A>T (p.Asn87Tyr) n.235A>T | |
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 |