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.202467674_202467679delinsGACACACA1321510693BMPR2c.403_408delinsGACACA (p.Asp135=)
c.334_339delinsGACACA (p.Asp112=)
n.310_315delinsGACACA
2g.202467678_202467679delCA645294018BMPR2c.407_408del (p.Thr136AsnfsTer10)
c.338_339del (p.Thr113AsnfsTer10)
n.314_315del
 ClinVar dbSNP
2g.202467679_202467683delCA645294017BMPR2c.408_412del (p.Pro138GlnfsTer7)
c.339_343del (p.Pro115GlnfsTer7)
n.315_319del
 ClinVar dbSNP
2g.202467680_202467682delCA2662704388BMPR2c.409_411del (p.Thr137del)
c.340_342del (p.Thr114del)
n.316_318del
 gnomAD v4
2g.202467679A=CA1321510703BMPR2c.408A= (p.Thr136=)
c.339A= (p.Thr113=)
n.315A=
2g.202467679A>CCA430903887BMPR2c.408A>C (p.Thr136=)
c.339A>C (p.Thr113=)
n.315A>C
2g.202467679A>GCA2061094BMPR2c.408A>G (p.Thr136=)
c.339A>G (p.Thr113=)
n.315A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467679A>TCA430903886BMPR2c.408A>T (p.Thr136=)
c.339A>T (p.Thr113=)
n.315A>T
2g.202467680dupCA2573134354BMPR2c.409dup (p.Thr137AsnfsTer10)
c.340dup (p.Thr114AsnfsTer10)
n.316dup
 ClinVar dbSNP
2g.202467680A=CA1321510709BMPR2c.409A= (p.Thr137=)
c.340A= (p.Thr114=)
n.316A=
2g.202467680A>CCA64532513BMPR2c.409A>C (p.Thr137Pro)
c.340A>C (p.Thr114Pro)
n.316A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467680A>GCA350399869BMPR2c.409A>G (p.Thr137Ala)
c.340A>G (p.Thr114Ala)
n.316A>G
 dbSNP gnomAD v4
2g.202467680A>TCA350399870BMPR2c.409A>T (p.Thr137Ser)
c.340A>T (p.Thr114Ser)
n.316A>T
2g.202467681C>ACA350399871BMPR2c.410C>A (p.Thr137Lys)
c.341C>A (p.Thr114Lys)
n.317C>A
2g.202467681C>GCA350399872BMPR2c.410C>G (p.Thr137Arg)
c.341C>G (p.Thr114Arg)
n.317C>G
2g.202467681C>TCA350399873BMPR2c.410C>T (p.Thr137Ile)
c.341C>T (p.Thr114Ile)
n.317C>T
2g.202467682A=CA1321510715BMPR2c.411A= (p.Thr137=)
c.342A= (p.Thr114=)
n.318A=
2g.202467682A>CCA430903888BMPR2c.411A>C (p.Thr137=)
c.342A>C (p.Thr114=)
n.318A>C
2g.202467682A>GCA2061095BMPR2c.411A>G (p.Thr137=)
c.342A>G (p.Thr114=)
n.318A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467682A>TCA430903889BMPR2c.411A>T (p.Thr137=)
c.342A>T (p.Thr114=)
n.318A>T
 dbSNP
2g.202467683C>ACA350399874BMPR2c.412C>A (p.Pro138Thr)
c.343C>A (p.Pro115Thr)
n.319C>A
 gnomAD v4 COSMIC
2g.202467683C=CA1321510717BMPR2c.412C= (p.Pro138=)
c.343C= (p.Pro115=)
n.319C=
2g.202467683C>GCA350399875BMPR2c.412C>G (p.Pro138Ala)
c.343C>G (p.Pro115Ala)
n.319C>G
2g.202467683C>TCA64532514BMPR2c.412C>T (p.Pro138Ser)
c.343C>T (p.Pro115Ser)
n.319C>T
 dbSNP gnomAD v4
2g.202467684C>ACA350399876BMPR2c.413C>A (p.Pro138Gln)
c.344C>A (p.Pro115Gln)
n.320C>A
2g.202467684C>GCA350399878BMPR2c.413C>G (p.Pro138Arg)
c.344C>G (p.Pro115Arg)
n.320C>G
2g.202467684C>TCA350399877BMPR2c.413C>T (p.Pro138Leu)
c.344C>T (p.Pro115Leu)
n.320C>T
2g.202467685A=CA1321510721BMPR2c.414A= (p.Pro138=)
c.345A= (p.Pro115=)
n.321A=
2g.202467685A>CCA430903890BMPR2c.414A>C (p.Pro138=)
c.345A>C (p.Pro115=)
n.321A>C
2g.202467685A>GCA2061096BMPR2c.414A>G (p.Pro138=)
c.345A>G (p.Pro115=)
n.321A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467685A>TCA430903891BMPR2c.414A>T (p.Pro138=)
c.345A>T (p.Pro115=)
n.321A>T
2g.202467686C>ACA350399881BMPR2c.415C>A (p.Leu139Ile)
c.346C>A (p.Leu116Ile)
n.322C>A
2g.202467686C=CA1321510723BMPR2c.415C= (p.Leu139=)
c.346C= (p.Leu116=)
n.322C=
2g.202467686C>GCA350399879BMPR2c.415C>G (p.Leu139Val)
c.346C>G (p.Leu116Val)
n.322C>G
 dbSNP gnomAD v2 gnomAD v4
2g.202467686C>TCA350399880BMPR2c.415C>T (p.Leu139Phe)
c.346C>T (p.Leu116Phe)
n.322C>T
 dbSNP
2g.202467686_202467690delinsCTCAGCA1321510725BMPR2c.415_418+1delinsCTCAG
c.346_349+1delinsCTCAG
n.322_325+1delinsCTCAG
2g.202467687T>ACA350399882BMPR2c.416T>A (p.Leu139His)
c.347T>A (p.Leu116His)
n.323T>A
2g.202467687T>CCA350399883BMPR2c.416T>C (p.Leu139Pro)
c.347T>C (p.Leu116Pro)
n.323T>C
2g.202467687T>GCA350399884BMPR2c.416T>G (p.Leu139Arg)
c.347T>G (p.Leu116Arg)
n.323T>G
2g.202467688_202467691delCA915941501BMPR2c.417_418+2del
c.348_349+2del
n.324_325+2del
 ClinVar dbSNP
2g.202467688C>ACA430903892BMPR2c.417C>A (p.Leu139=)
c.348C>A (p.Leu116=)
n.324C>A
 gnomAD v4
2g.202467688C=CA1321510740BMPR2c.417C= (p.Leu139=)
c.348C= (p.Leu116=)
n.324C=
2g.202467688C>GCA430903893BMPR2c.417C>G (p.Leu139=)
c.348C>G (p.Leu116=)
n.324C>G
 dbSNP gnomAD v3 gnomAD v4
2g.202467688C>TCA2061097BMPR2c.417C>T (p.Leu139=)
c.348C>T (p.Leu116=)
n.324C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467688_202467692delinsCAGTACA1321510738BMPR2c.417_418+3delinsCAGTA
c.348_349+3delinsCAGTA
n.324_325+3delinsCAGTA

Number of alleles fetched