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.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
2g.202467543C>TCA64532511BMPR2c.272C>T (p.Pro91Leu)
c.203C>T (p.Pro68Leu)
n.179C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467544C>ACA430903796BMPR2c.273C>A (p.Pro91=)
c.204C>A (p.Pro68=)
n.180C>A
 gnomAD v4
2g.202467544C=CA1321510457BMPR2c.273C= (p.Pro91=)
c.204C= (p.Pro68=)
n.180C=
2g.202467544C>GCA430903794BMPR2c.273C>G (p.Pro91=)
c.204C>G (p.Pro68=)
n.180C>G
 dbSNP
2g.202467544C>TCA430903795BMPR2c.273C>T (p.Pro91=)
c.204C>T (p.Pro68=)
n.180C>T
 dbSNP
2g.202467545C>ACA350399563BMPR2c.274C>A (p.Gln92Lys)
c.205C>A (p.Gln69Lys)
n.181C>A
 gnomAD v4
2g.202467545C=CA1321510460BMPR2c.274C= (p.Gln92=)
c.205C= (p.Gln69=)
n.181C=
2g.202467545C>GCA350399564BMPR2c.274C>G (p.Gln92Glu)
c.205C>G (p.Gln69Glu)
n.181C>G
2g.202467545C>TCA350399562BMPR2c.274C>T (p.Gln92Ter)
c.205C>T (p.Gln69Ter)
n.181C>T
 ClinVar dbSNP
2g.202467546A=CA1321510464BMPR2c.275A= (p.Gln92=)
c.206A= (p.Gln69=)
n.182A=
2g.202467546A>CCA2061079BMPR2c.275A>C (p.Gln92Pro)
c.206A>C (p.Gln69Pro)
n.182A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467546A>GCA350399565BMPR2c.275A>G (p.Gln92Arg)
c.206A>G (p.Gln69Arg)
n.182A>G
2g.202467546A>TCA350399566BMPR2c.275A>T (p.Gln92Leu)
c.206A>T (p.Gln69Leu)
n.182A>T
2g.202467547A=CA1321510469BMPR2c.276A= (p.Gln92=)
c.207A= (p.Gln69=)
n.183A=
2g.202467547A>CCA2061080BMPR2c.276A>C (p.Gln92His)
c.207A>C (p.Gln69His)
n.183A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467547A>GCA430903797BMPR2c.276A>G (p.Gln92=)
c.207A>G (p.Gln69=)
n.183A>G
 dbSNP gnomAD v2 gnomAD v4
2g.202467547A>TCA350399567BMPR2c.276A>T (p.Gln92His)
c.207A>T (p.Gln69His)
n.183A>T
2g.202467549_202467550delCA2586965547BMPR2c.278_279del (p.Glu93ValfsTer4)
c.209_210del (p.Glu70ValfsTer4)
n.185_186del
2g.202467548G>ACA350399570BMPR2c.277G>A (p.Glu93Lys)
c.208G>A (p.Glu70Lys)
n.184G>A
 gnomAD v4
2g.202467548G>CCA350399568BMPR2c.277G>C (p.Glu93Gln)
c.208G>C (p.Glu70Gln)
n.184G>C
 dbSNP gnomAD v4
2g.202467548G=CA1321510477BMPR2c.277G= (p.Glu93=)
c.208G= (p.Glu70=)
n.184G=
2g.202467548G>TCA350399569BMPR2c.277G>T (p.Glu93Ter)
c.208G>T (p.Glu70Ter)
n.184G>T
2g.202467548dupCA645294007BMPR2c.277dup (p.Glu93GlyfsTer5)
c.208dup (p.Glu70GlyfsTer5)
n.184dup
 ClinVar dbSNP
2g.202467549A>CCA350399571BMPR2c.278A>C (p.Glu93Ala)
c.209A>C (p.Glu70Ala)
n.185A>C
2g.202467549A>GCA350399572BMPR2c.278A>G (p.Glu93Gly)
c.209A>G (p.Glu70Gly)
n.185A>G
2g.202467549A>TCA350399573BMPR2c.278A>T (p.Glu93Val)
c.209A>T (p.Glu70Val)
n.185A>T
 gnomAD v4
2g.202467550G>ACA430903798BMPR2c.279G>A (p.Glu93=)
c.210G>A (p.Glu70=)
n.186G>A
 dbSNP gnomAD v2 gnomAD v4
2g.202467550G>CCA350399574BMPR2c.279G>C (p.Glu93Asp)
c.210G>C (p.Glu70Asp)
n.186G>C
2g.202467550G=CA1321510481BMPR2c.279G= (p.Glu93=)
c.210G= (p.Glu70=)
n.186G=
2g.202467550G>TCA350399575BMPR2c.279G>T (p.Glu93Asp)
c.210G>T (p.Glu70Asp)
n.186G>T
2g.202467551T>ACA350399578BMPR2c.280T>A (p.Cys94Ser)
c.211T>A (p.Cys71Ser)
n.187T>A
2g.202467551T>CCA350399577BMPR2c.280T>C (p.Cys94Arg)
c.211T>C (p.Cys71Arg)
n.187T>C
 ClinVar dbSNP

Number of alleles fetched