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.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
2g.202467537G>CCA350399548BMPR2c.266G>C (p.Gly89Ala)
c.197G>C (p.Gly66Ala)
n.173G>C
 ClinVar dbSNP
2g.202467537G=CA1321510423BMPR2c.266G= (p.Gly89=)
c.197G= (p.Gly66=)
n.173G=
2g.202467537G>TCA350399549BMPR2c.266G>T (p.Gly89Val)
c.197G>T (p.Gly66Val)
n.173G>T
2g.202467538A>CCA430903791BMPR2c.267A>C (p.Gly89=)
c.198A>C (p.Gly66=)
n.174A>C
 gnomAD v4
2g.202467538A>GCA430903792BMPR2c.267A>G (p.Gly89=)
c.198A>G (p.Gly66=)
n.174A>G
 gnomAD v4
2g.202467538A>TCA430903790BMPR2c.267A>T (p.Gly89=)
c.198A>T (p.Gly66=)
n.174A>T
2g.202467539G>ACA350399551BMPR2c.268G>A (p.Asp90Asn)
c.199G>A (p.Asp67Asn)
n.175G>A
 dbSNP gnomAD v3 gnomAD v4
2g.202467539G>CCA350399552BMPR2c.268G>C (p.Asp90His)
c.199G>C (p.Asp67His)
n.175G>C
 COSMIC
2g.202467539G=CA1321510427BMPR2c.268G= (p.Asp90=)
c.199G= (p.Asp67=)
n.175G=
2g.202467539G>TCA350399550BMPR2c.268G>T (p.Asp90Tyr)
c.199G>T (p.Asp67Tyr)
n.175G>T
2g.202467540A=CA1321510429BMPR2c.269A= (p.Asp90=)
c.200A= (p.Asp67=)
n.176A=
2g.202467540A>CCA350399553BMPR2c.269A>C (p.Asp90Ala)
c.200A>C (p.Asp67Ala)
n.176A>C
2g.202467540A>GCA350399554BMPR2c.269A>G (p.Asp90Gly)
c.200A>G (p.Asp67Gly)
n.176A>G
2g.202467540A>TCA350399555BMPR2c.269A>T (p.Asp90Val)
c.200A>T (p.Asp67Val)
n.176A>T
2g.202467541T>ACA350399556BMPR2c.270T>A (p.Asp90Glu)
c.201T>A (p.Asp67Glu)
n.177T>A
2g.202467541T>CCA430903793BMPR2c.270T>C (p.Asp90=)
c.201T>C (p.Asp67=)
n.177T>C
2g.202467541T>GCA350399557BMPR2c.270T>G (p.Asp90Glu)
c.201T>G (p.Asp67Glu)
n.177T>G
2g.202467541dupCA915941497BMPR2c.270dup (p.Pro91SerfsTer7)
c.201dup (p.Pro68SerfsTer7)
n.177dup
2g.202467541_202467542delinsTCCA1321510436BMPR2c.270_271delinsTC (p.Asp90=)
c.201_202delinsTC (p.Asp67=)
n.177_178delinsTC
2g.202467542C>ACA350399558BMPR2c.271C>A (p.Pro91Thr)
c.202C>A (p.Pro68Thr)
n.178C>A
 dbSNP gnomAD v4
2g.202467542C=CA1321510444BMPR2c.271C= (p.Pro91=)
c.202C= (p.Pro68=)
n.178C=
2g.202467542C>GCA350399559BMPR2c.271C>G (p.Pro91Ala)
c.202C>G (p.Pro68Ala)
n.178C>G
2g.202467542C>TCA2061078BMPR2c.271C>T (p.Pro91Ser)
c.202C>T (p.Pro68Ser)
n.178C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467545delCA915941498BMPR2c.274del (p.Gln92LysfsTer9)
c.205del (p.Gln69LysfsTer9)
n.181del
 ClinVar dbSNP
2g.202467543C>ACA350399560BMPR2c.272C>A (p.Pro91His)
c.203C>A (p.Pro68His)
n.179C>A
2g.202467543C=CA1321510454BMPR2c.272C= (p.Pro91=)
c.203C= (p.Pro68=)
n.179C=
2g.202467543C>GCA350399561BMPR2c.272C>G (p.Pro91Arg)
c.203C>G (p.Pro68Arg)
n.179C>G
 gnomAD v4

Number of alleles fetched