Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202461237_202467808delCA915941492BMPR2c.77-3572_418+119del
 ClinVar
2g.202465115_202467788delCA915941495BMPR2c.247+136_418+99del
c.176+132_349+99del
n.154+136_325+99del
 ClinVar
2g.202465783_202470694delCA915941496BMPR2c.247+804_418+3005del
c.176+800_349+3005del
n.154+804_325+3005del
 ClinVar
2g.202466926_202467684delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACCCA1321509919BMPR2c.248-593_413delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC
c.177-127_344delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC
n.155-593_320delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC
2g.202466927_202467684delinsGTAAAGTACA645293853BMPR2c.248-592_413delinsGTAAAGTA
c.177-126_344delinsGTAAAGTA
n.155-592_320delinsGTAAAGTA
 ClinVar dbSNP
2g.202467525G>ACA350399518BMPR2c.254G>A (p.Trp85Ter)
c.185G>A (p.Trp62Ter)
n.161G>A
 ClinVar
2g.202467525G>CCA350399519BMPR2c.254G>C (p.Trp85Ser)
c.185G>C (p.Trp62Ser)
n.161G>C
2g.202467525G=CA1321510397BMPR2c.254G= (p.Trp85=)
c.185G= (p.Trp62=)
n.161G=
2g.202467525G>TCA64532510BMPR2c.254G>T (p.Trp85Leu)
c.185G>T (p.Trp62Leu)
n.161G>T
 dbSNP
2g.202467526G>ACA350399520BMPR2c.255G>A (p.Trp85Ter)
c.186G>A (p.Trp62Ter)
n.162G>A
 ClinVar dbSNP
2g.202467526G>CCA350399522BMPR2c.255G>C (p.Trp85Cys)
c.186G>C (p.Trp62Cys)
n.162G>C
2g.202467526G=CA1321510402BMPR2c.255G= (p.Trp85=)
c.186G= (p.Trp62=)
n.162G=
2g.202467526G>TCA350399521BMPR2c.255G>T (p.Trp85Cys)
c.186G>T (p.Trp62Cys)
n.162G>T
2g.202467527T>ACA350399523BMPR2c.256T>A (p.Ser86Thr)
c.187T>A (p.Ser63Thr)
n.163T>A
 gnomAD v4
2g.202467527T>CCA350399525BMPR2c.256T>C (p.Ser86Pro)
c.187T>C (p.Ser63Pro)
n.163T>C
 gnomAD v4
2g.202467527T>GCA350399524BMPR2c.256T>G (p.Ser86Ala)
c.187T>G (p.Ser63Ala)
n.163T>G
2g.202467528C>ACA350399526BMPR2c.257C>A (p.Ser86Tyr)
c.188C>A (p.Ser63Tyr)
n.164C>A
 gnomAD v4
2g.202467528C>GCA350399527BMPR2c.257C>G (p.Ser86Cys)
c.188C>G (p.Ser63Cys)
n.164C>G
2g.202467528C>TCA350399528BMPR2c.257C>T (p.Ser86Phe)
c.188C>T (p.Ser63Phe)
n.164C>T
2g.202467529delCA2586965545BMPR2c.258del (p.His87ThrfsTer14)
c.189del (p.His64ThrfsTer14)
n.165del
2g.202467529T>ACA430903784BMPR2c.258T>A (p.Ser86=)
c.189T>A (p.Ser63=)
n.165T>A
 gnomAD v4
2g.202467529T>CCA430903785BMPR2c.258T>C (p.Ser86=)
c.189T>C (p.Ser63=)
n.165T>C
2g.202467529T>GCA430903786BMPR2c.258T>G (p.Ser86=)
c.189T>G (p.Ser63=)
n.165T>G
2g.202467530C>ACA350399529BMPR2c.259C>A (p.His87Asn)
c.190C>A (p.His64Asn)
n.166C>A
 gnomAD v4
2g.202467530C=CA1321510407BMPR2c.259C= (p.His87=)
c.190C= (p.His64=)
n.166C=
2g.202467530C>GCA350399530BMPR2c.259C>G (p.His87Asp)
c.190C>G (p.His64Asp)
n.166C>G
2g.202467530C>TCA350399531BMPR2c.259C>T (p.His87Tyr)
c.190C>T (p.His64Tyr)
n.166C>T
2g.202467531A=CA1321510414BMPR2c.260A= (p.His87=)
c.191A= (p.His64=)
n.167A=
2g.202467531A>CCA350399532BMPR2c.260A>C (p.His87Pro)
c.191A>C (p.His64Pro)
n.167A>C
2g.202467531A>GCA350399533BMPR2c.260A>G (p.His87Arg)
c.191A>G (p.His64Arg)
n.167A>G
 dbSNP gnomAD v4
2g.202467531A>TCA350399534BMPR2c.260A>T (p.His87Leu)
c.191A>T (p.His64Leu)
n.167A>T
2g.202467531dupCA645294006BMPR2c.260dup (p.His87GlnfsTer11)
c.191dup (p.His64GlnfsTer11)
n.167dup
 ClinVar dbSNP
2g.202467532C>ACA350399535BMPR2c.261C>A (p.His87Gln)
c.192C>A (p.His64Gln)
n.168C>A
 gnomAD v4
2g.202467532C=CA1321510418BMPR2c.261C= (p.His87=)
c.192C= (p.His64=)
n.168C=
2g.202467532C>GCA350399536BMPR2c.261C>G (p.His87Gln)
c.192C>G (p.His64Gln)
n.168C>G
2g.202467532C>TCA430903787BMPR2c.261C>T (p.His87=)
c.192C>T (p.His64=)
n.168C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.202467533A>CCA350399539BMPR2c.262A>C (p.Ile88Leu)
c.193A>C (p.Ile65Leu)
n.169A>C
2g.202467533A>GCA350399537BMPR2c.262A>G (p.Ile88Val)
c.193A>G (p.Ile65Val)
n.169A>G
2g.202467533A>TCA350399538BMPR2c.262A>T (p.Ile88Phe)
c.193A>T (p.Ile65Phe)
n.169A>T
2g.202467534T>ACA350399540BMPR2c.263T>A (p.Ile88Asn)
c.194T>A (p.Ile65Asn)
n.170T>A
2g.202467534T>CCA350399541BMPR2c.263T>C (p.Ile88Thr)
c.194T>C (p.Ile65Thr)
n.170T>C
 dbSNP gnomAD v2 gnomAD v4
2g.202467534T>GCA350399542BMPR2c.263T>G (p.Ile88Ser)
c.194T>G (p.Ile65Ser)
n.170T>G
2g.202467534T=CA1321510421BMPR2c.263T= (p.Ile88=)
c.194T= (p.Ile65=)
n.170T=
2g.202467535T>ACA430903789BMPR2c.264T>A (p.Ile88=)
c.195T>A (p.Ile65=)
n.171T>A
2g.202467535T>CCA430903788BMPR2c.264T>C (p.Ile88=)
c.195T>C (p.Ile65=)
n.171T>C
2g.202467535T>GCA350399543BMPR2c.264T>G (p.Ile88Met)
c.195T>G (p.Ile65Met)
n.171T>G
2g.202467536G>ACA350399544BMPR2c.265G>A (p.Gly89Arg)
c.196G>A (p.Gly66Arg)
n.172G>A
2g.202467536G>CCA350399545BMPR2c.265G>C (p.Gly89Arg)
c.196G>C (p.Gly66Arg)
n.172G>C
2g.202467536G>TCA350399546BMPR2c.265G>T (p.Gly89Ter)
c.196G>T (p.Gly66Ter)
n.172G>T
2g.202467537G>ACA350399547BMPR2c.266G>A (p.Gly89Glu)
c.197G>A (p.Gly66Glu)
n.173G>A

Number of alleles fetched