Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202461237_202467808delCA915941492BMPR2c.77-3572_418+119del
 ClinVar
2g.202462494_202466873delCA915941493BMPR2c.77-2315_248-646del
 ClinVar
2g.202464908_202464910delCA2662703809BMPR2c.176_178del (p.Leu59del)
c.101_103del (p.Leu34del)
n.83_85del
 gnomAD v4
2g.202464910T>ACA350399331BMPR2c.178T>A (p.Cys60Ser)
c.103T>A (p.Cys35Ser)
n.85T>A
2g.202464910T>CCA350399332BMPR2c.178T>C (p.Cys60Arg)
c.103T>C (p.Cys35Arg)
n.85T>C
 ClinVar dbSNP
2g.202464910T>GCA350399333BMPR2c.178T>G (p.Cys60Gly)
c.103T>G (p.Cys35Gly)
n.85T>G
 ClinVar dbSNP
2g.202464910T=CA1321507683BMPR2c.178T= (p.Cys60=)
c.103T= (p.Cys35=)
n.85T=
2g.202464911G>ACA350399334BMPR2c.179G>A (p.Cys60Tyr)
c.104G>A (p.Cys35Tyr)
n.86G>A
 ClinVar dbSNP
2g.202464911G>CCA350399335BMPR2c.179G>C (p.Cys60Ser)
c.104G>C (p.Cys35Ser)
n.86G>C
2g.202464911G=CA1321507687BMPR2c.179G= (p.Cys60=)
c.104G= (p.Cys35=)
n.86G=
2g.202464911G>TCA350399336BMPR2c.179G>T (p.Cys60Phe)
c.104G>T (p.Cys35Phe)
n.86G>T
 ClinVar dbSNP
2g.202464912C>ACA350399337BMPR2c.180C>A (p.Cys60Ter)
c.105C>A (p.Cys35Ter)
n.87C>A
 COSMIC
2g.202464912C>GCA350399338BMPR2c.180C>G (p.Cys60Trp)
c.105C>G (p.Cys35Trp)
n.87C>G
2g.202464912C>TCA430903633BMPR2c.180C>T (p.Cys60=)
c.105C>T (p.Cys35=)
n.87C>T
 ClinVar dbSNP gnomAD v4
2g.202464912_202464914delCA2586965531BMPR2c.180_182del (p.Cys60_Ser61delinsTrp)
c.105_107del (p.Cys35_Ser36delinsTrp)
n.87_89del
2g.202464913T>ACA350399339BMPR2c.181T>A (p.Ser61Thr)
c.106T>A (p.Ser36Thr)
n.88T>A
 COSMIC
2g.202464913T>CCA350399341BMPR2c.181T>C (p.Ser61Pro)
c.106T>C (p.Ser36Pro)
n.88T>C
 dbSNP gnomAD v3 gnomAD v4
2g.202464913T>GCA350399340BMPR2c.181T>G (p.Ser61Ala)
c.106T>G (p.Ser36Ala)
n.88T>G
2g.202464913T=CA1321507692BMPR2c.181T= (p.Ser61=)
c.106T= (p.Ser36=)
n.88T=
2g.202464914C>ACA350399342BMPR2c.182C>A (p.Ser61Ter)
c.107C>A (p.Ser36Ter)
n.89C>A
2g.202464914C=CA1321507694BMPR2c.182C= (p.Ser61=)
c.107C= (p.Ser36=)
n.89C=
2g.202464914C>GCA350399343BMPR2c.182C>G (p.Ser61Trp)
c.107C>G (p.Ser36Trp)
n.89C>G
 gnomAD v4
2g.202464914C>TCA350399344BMPR2c.182C>T (p.Ser61Leu)
c.107C>T (p.Ser36Leu)
n.89C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.202464915G>ACA2061047BMPR2c.183G>A (p.Ser61=)
c.108G>A (p.Ser36=)
n.90G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202464915G>CCA430903634BMPR2c.183G>C (p.Ser61=)
c.108G>C (p.Ser36=)
n.90G>C
2g.202464915G=CA1321507696BMPR2c.183G= (p.Ser61=)
c.108G= (p.Ser36=)
n.90G=
2g.202464915G>TCA430903635BMPR2c.183G>T (p.Ser61=)
c.108G>T (p.Ser36=)
n.90G>T
 gnomAD v4
2g.202464916A=CA1321507704BMPR2c.184A= (p.Lys62=)
c.109A= (p.Lys37=)
n.91A=
2g.202464916A>CCA350399345BMPR2c.184A>C (p.Lys62Gln)
c.109A>C (p.Lys37Gln)
n.91A>C
2g.202464916A>GCA350399347BMPR2c.184A>G (p.Lys62Glu)
c.109A>G (p.Lys37Glu)
n.91A>G
 dbSNP gnomAD v3 gnomAD v4
2g.202464916A>TCA350399346BMPR2c.184A>T (p.Lys62Ter)
c.109A>T (p.Lys37Ter)
n.91A>T
2g.202464918dupCA322535BMPR2c.186dup (p.Gly63ArgfsTer2)
c.111dup (p.Gly38ArgfsTer2)
n.93dup
 ClinVar dbSNP
2g.202464917A>CCA350399348BMPR2c.185A>C (p.Lys62Thr)
c.110A>C (p.Lys37Thr)
n.92A>C
 gnomAD v4
2g.202464917A>GCA350399349BMPR2c.185A>G (p.Lys62Arg)
c.110A>G (p.Lys37Arg)
n.92A>G
2g.202464917A>TCA350399350BMPR2c.185A>T (p.Lys62Ile)
c.110A>T (p.Lys37Ile)
n.92A>T
2g.202464918A=CA1321507706BMPR2c.186A= (p.Lys62=)
c.111A= (p.Lys37=)
n.93A=
2g.202464918A>CCA350399351BMPR2c.186A>C (p.Lys62Asn)
c.111A>C (p.Lys37Asn)
n.93A>C
2g.202464918A>GCA430903636BMPR2c.186A>G (p.Lys62=)
c.111A>G (p.Lys37=)
n.93A>G
2g.202464918A>TCA350399352BMPR2c.186A>T (p.Lys62Asn)
c.111A>T (p.Lys37Asn)
n.93A>T
2g.202464918_202464919insTACCCA645293993BMPR2c.186_187insTACC (p.Gly63TyrfsTer3)
c.111_112insTACC (p.Gly38TyrfsTer3)
n.93_94insTACC
 ClinVar dbSNP
2g.202464919G>ACA350399353BMPR2c.187G>A (p.Gly63Ser)
c.112G>A (p.Gly38Ser)
n.94G>A
2g.202464919G>CCA2061048BMPR2c.187G>C (p.Gly63Arg)
c.112G>C (p.Gly38Arg)
n.94G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202464919G=CA1321507712BMPR2c.187G= (p.Gly63=)
c.112G= (p.Gly38=)
n.94G=
2g.202464919G>TCA350399354BMPR2c.187G>T (p.Gly63Cys)
c.112G>T (p.Gly38Cys)
n.94G>T
2g.202464919_202464940delinsGGTAGCACCTGCTATGGCCTTTCA1321507710BMPR2c.187_208delinsGGTAGCACCTGCTATGGCCTTT (p.Gly63=)
c.112_133delinsGGTAGCACCTGCTATGGCCTTT (p.Gly38=)
n.94_115delinsGGTAGCACCTGCTATGGCCTTT
2g.202464920G>ACA350399355BMPR2c.188G>A (p.Gly63Asp)
c.113G>A (p.Gly38Asp)
n.95G>A
2g.202464920G>CCA350399356BMPR2c.188G>C (p.Gly63Ala)
c.113G>C (p.Gly38Ala)
n.95G>C
2g.202464920G>TCA350399357BMPR2c.188G>T (p.Gly63Val)
c.113G>T (p.Gly38Val)
n.95G>T
2g.202464920_202464939delinsGTAGCACCTGCTATGGCCTTCA1321507720BMPR2c.188_207delinsGTAGCACCTGCTATGGCCTT (p.Gly63=)
c.113_132delinsGTAGCACCTGCTATGGCCTT (p.Gly38=)
n.95_114delinsGTAGCACCTGCTATGGCCTT
2g.202464921_202464941delCA645293994BMPR2c.189_209del (p.Ser64_Trp70del)
c.114_134del (p.Ser39_Trp45del)
n.96_116del
 ClinVar dbSNP

Number of alleles fetched