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.202467513_202467519delinsTTATAGGCA1321510362BMPR2c.248-6_248delinsTTATAGG
c.179-6_179delinsTTATAGG
n.155-6_155delinsTTATAGG
2g.202467514_202467519delinsACCA645294004BMPR2c.248-5_248delinsAC
c.179-5_179delinsAC
n.155-5_155delinsAC
 ClinVar dbSNP
2g.202467517A=CA1321510367BMPR2c.248-2A= (n.248-2A=)
c.179-2A= (n.179-2A=)
n.155-2A=
2g.202467517A>CCA350399498BMPR2c.248-2A>C (n.248-2A>C)
c.179-2A>C (n.179-2A>C)
n.155-2A>C
2g.202467517A>GCA350399499BMPR2c.248-2A>G (n.248-2A>G)
c.179-2A>G (n.179-2A>G)
n.155-2A>G
 ClinVar dbSNP COSMIC
2g.202467517A>TCA350399497BMPR2c.248-2A>T (n.248-2A>T)
c.179-2A>T (n.179-2A>T)
n.155-2A>T
2g.202467518G>ACA350399500BMPR2c.248-1G>A (n.248-1G>A)
c.179-1G>A (n.179-1G>A)
n.155-1G>A
 ClinVar dbSNP
2g.202467518G>CCA350399501BMPR2c.248-1G>C (n.248-1G>C)
c.179-1G>C (n.179-1G>C)
n.155-1G>C
2g.202467518G=CA1321510368BMPR2c.248-1G= (n.248-1G=)
c.179-1G= (n.179-1G=)
n.155-1G=
2g.202467518G>TCA350399502BMPR2c.248-1G>T (n.248-1G>T)
c.179-1G>T (n.179-1G>T)
n.155-1G>T
2g.202467519G>ACA350399503BMPR2c.248G>A (p.Gly83Glu)
c.179G>A (p.Arg60Lys)
n.155G>A
 ClinVar dbSNP
2g.202467519G>CCA350399504BMPR2c.248G>C (p.Gly83Ala)
c.179G>C (p.Arg60Thr)
n.155G>C
2g.202467519G=CA1321510372BMPR2c.248G= (p.Gly83=)
c.179G= (p.Arg60=)
n.155G=
2g.202467519G>TCA350399505BMPR2c.248G>T (p.Gly83Val)
c.179G>T (p.Arg60Ile)
n.155G>T
 ClinVar
2g.202467520A>CCA430903780BMPR2c.249A>C (p.Gly83=)
c.180A>C (p.Arg60Ser)
n.156A>C
2g.202467520A>GCA430903781BMPR2c.249A>G (p.Gly83=)
c.180A>G (p.Arg60=)
n.156A>G
 gnomAD v4
2g.202467520A>TCA430903782BMPR2c.249A>T (p.Gly83=)
c.180A>T (p.Arg60Ser)
n.156A>T
2g.202467521T>ACA350399508BMPR2c.250T>A (p.Cys84Ser)
c.181T>A (p.Cys61Ser)
n.157T>A
2g.202467521T>CCA350399506BMPR2c.250T>C (p.Cys84Arg)
c.181T>C (p.Cys61Arg)
n.157T>C
 ClinVar dbSNP
2g.202467521T>GCA350399507BMPR2c.250T>G (p.Cys84Gly)
c.181T>G (p.Cys61Gly)
n.157T>G
 ClinVar dbSNP
2g.202467521T=CA1321510377BMPR2c.250T= (p.Cys84=)
c.181T= (p.Cys61=)
n.157T=
2g.202467522G>ACA350399510BMPR2c.251G>A (p.Cys84Tyr)
c.182G>A (p.Cys61Tyr)
n.158G>A
 ClinVar dbSNP
2g.202467522G>CCA350399511BMPR2c.251G>C (p.Cys84Ser)
c.182G>C (p.Cys61Ser)
n.158G>C
2g.202467522G=CA1321510385BMPR2c.251G= (p.Cys84=)
c.182G= (p.Cys61=)
n.158G=
2g.202467522G>TCA350399512BMPR2c.251G>T (p.Cys84Phe)
c.182G>T (p.Cys61Phe)
n.158G>T
 ClinVar dbSNP
2g.202467523T>ACA350399513BMPR2c.252T>A (p.Cys84Ter)
c.183T>A (p.Cys61Ter)
n.159T>A
2g.202467523T>CCA430903783BMPR2c.252T>C (p.Cys84=)
c.183T>C (p.Cys61=)
n.159T>C
2g.202467523T>GCA350399514BMPR2c.252T>G (p.Cys84Trp)
c.183T>G (p.Cys61Trp)
n.159T>G
2g.202467524T>ACA350399515BMPR2c.253T>A (p.Trp85Arg)
c.184T>A (p.Trp62Arg)
n.160T>A
2g.202467524T>CCA350399517BMPR2c.253T>C (p.Trp85Arg)
c.184T>C (p.Trp62Arg)
n.160T>C
 ClinVar
2g.202467524T>GCA350399516BMPR2c.253T>G (p.Trp85Gly)
c.184T>G (p.Trp62Gly)
n.160T>G
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

Number of alleles fetched