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.202467614_202467616delinsTTCCA1321510638BMPR2c.343_345delinsTTC (p.Phe115=)
c.274_276delinsTTC (p.Phe92=)
n.250_252delinsTTC
2g.202467616_202467617delCA645294010BMPR2c.345_346del (p.Phe115LeufsTer4)
c.276_277del (p.Phe92LeufsTer4)
n.252_253del
 ClinVar dbSNP
2g.202467616C>ACA350399717BMPR2c.345C>A (p.Phe115Leu)
c.276C>A (p.Phe92Leu)
n.252C>A
2g.202467616C=CA1321510641BMPR2c.345C= (p.Phe115=)
c.276C= (p.Phe92=)
n.252C=
2g.202467616C>GCA350399718BMPR2c.345C>G (p.Phe115Leu)
c.276C>G (p.Phe92Leu)
n.252C>G
 ClinVar
2g.202467616C>TCA430903845BMPR2c.345C>T (p.Phe115=)
c.276C>T (p.Phe92=)
n.252C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467617delCA2573134353BMPR2c.346del (p.Cys116AlafsTer?)
c.277del (p.Cys93AlafsTer?)
n.253del
 ClinVar dbSNP
2g.202467617T>ACA350399720BMPR2c.346T>A (p.Cys116Ser)
c.277T>A (p.Cys93Ser)
n.253T>A
2g.202467617T>CCA350399721BMPR2c.346T>C (p.Cys116Arg)
c.277T>C (p.Cys93Arg)
n.253T>C
 ClinVar dbSNP
2g.202467617T>GCA350399719BMPR2c.346T>G (p.Cys116Gly)
c.277T>G (p.Cys93Gly)
n.253T>G
2g.202467617T=CA1321510643BMPR2c.346T= (p.Cys116=)
c.277T= (p.Cys93=)
n.253T=
2g.202467618G>ACA350399722BMPR2c.347G>A (p.Cys116Tyr)
c.278G>A (p.Cys93Tyr)
n.254G>A
2g.202467618G>CCA350399723BMPR2c.347G>C (p.Cys116Ser)
c.278G>C (p.Cys93Ser)
n.254G>C
2g.202467618G>TCA350399724BMPR2c.347G>T (p.Cys116Phe)
c.278G>T (p.Cys93Phe)
n.254G>T
2g.202467619C>ACA350399725BMPR2c.348C>A (p.Cys116Ter)
c.279C>A (p.Cys93Ter)
n.255C>A
2g.202467619C>GCA350399726BMPR2c.348C>G (p.Cys116Trp)
c.279C>G (p.Cys93Trp)
n.255C>G
2g.202467619C>TCA430903846BMPR2c.348C>T (p.Cys116=)
c.279C>T (p.Cys93=)
n.255C>T
2g.202467620T>ACA350399727BMPR2c.349T>A (p.Cys117Ser)
c.280T>A (p.Cys94Ser)
n.256T>A
2g.202467620T>CCA350399728BMPR2c.349T>C (p.Cys117Arg)
c.280T>C (p.Cys94Arg)
n.256T>C
 ClinVar dbSNP
2g.202467620T>GCA350399729BMPR2c.349T>G (p.Cys117Gly)
c.280T>G (p.Cys94Gly)
n.256T>G
 ClinVar dbSNP
2g.202467620T=CA1321510645BMPR2c.349T= (p.Cys117=)
c.280T= (p.Cys94=)
n.256T=
2g.202467621G>ACA350399730BMPR2c.350G>A (p.Cys117Tyr)
c.281G>A (p.Cys94Tyr)
n.257G>A
 ClinVar dbSNP gnomAD v4
2g.202467621G>CCA350399731BMPR2c.350G>C (p.Cys117Ser)
c.281G>C (p.Cys94Ser)
n.257G>C
 ClinVar dbSNP
2g.202467621G=CA1321510651BMPR2c.350G= (p.Cys117=)
c.281G= (p.Cys94=)
n.257G=
2g.202467621G>TCA350399732BMPR2c.350G>T (p.Cys117Phe)
c.281G>T (p.Cys94Phe)
n.257G>T
2g.202467621dupCA2586965555BMPR2c.350dup (p.Cys117TrpfsTer3)
c.281dup (p.Cys94TrpfsTer3)
n.257dup
2g.202467622T>ACA350399733BMPR2c.351T>A (p.Cys117Ter)
c.282T>A (p.Cys94Ter)
n.258T>A
2g.202467622T>CCA430903847BMPR2c.351T>C (p.Cys117=)
c.282T>C (p.Cys94=)
n.258T>C
2g.202467622T>GCA350399734BMPR2c.351T>G (p.Cys117Trp)
c.282T>G (p.Cys94Trp)
n.258T>G
2g.202467623T>ACA350399737BMPR2c.352T>A (p.Cys118Ser)
c.283T>A (p.Cys95Ser)
n.259T>A
2g.202467623T>CCA350399736BMPR2c.352T>C (p.Cys118Arg)
c.283T>C (p.Cys95Arg)
n.259T>C
2g.202467623T>GCA350399735BMPR2c.352T>G (p.Cys118Gly)
c.283T>G (p.Cys95Gly)
n.259T>G
2g.202467623_202467624delinsTGCA1321510661BMPR2c.352_353delinsTG (p.Cys118=)
c.283_284delinsTG (p.Cys95=)
n.259_260delinsTG
2g.202467624delCA645294011BMPR2c.353del (p.Cys118LeufsTer?)
c.284del (p.Cys95LeufsTer?)
n.260del
 ClinVar dbSNP
2g.202467624G>ACA350399738BMPR2c.353G>A (p.Cys118Tyr)
c.284G>A (p.Cys95Tyr)
n.260G>A
 ClinVar dbSNP
2g.202467624G>CCA350399739BMPR2c.353G>C (p.Cys118Ser)
c.284G>C (p.Cys95Ser)
n.260G>C
2g.202467624G=CA1321510663BMPR2c.353G= (p.Cys118=)
c.284G= (p.Cys95=)
n.260G=
2g.202467624G>TCA350399740BMPR2c.353G>T (p.Cys118Phe)
c.284G>T (p.Cys95Phe)
n.260G>T
2g.202467625T>ACA350399741BMPR2c.354T>A (p.Cys118Ter)
c.285T>A (p.Cys95Ter)
n.261T>A
2g.202467625T>CCA430903849BMPR2c.354T>C (p.Cys118=)
c.285T>C (p.Cys95=)
n.261T>C
2g.202467625T>GCA278075BMPR2c.354T>G (p.Cys118Trp)
c.285T>G (p.Cys95Trp)
n.261T>G
 ClinVar dbSNP gnomAD v4
2g.202467625T=CA1321510665BMPR2c.354T= (p.Cys118=)
c.285T= (p.Cys95=)
n.261T=
2g.202467625_202467626delinsAGCA645294012BMPR2c.354_355delinsAG (p.Cys118Ter)
c.285_286delinsAG (p.Cys95Ter)
n.261_262delinsAG
 ClinVar dbSNP
2g.202467625_202467626delinsTACA1321510664BMPR2c.354_355delinsTA (p.Cys118=)
c.285_286delinsTA (p.Cys95=)
n.261_262delinsTA
2g.202467626delCA645294013BMPR2c.355del (p.Ser119AlafsTer?)
c.286del (p.Ser96AlafsTer?)
n.262del
 ClinVar dbSNP

Number of alleles fetched