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.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
2g.202467626A=CA1321510666BMPR2c.355A= (p.Ser119=)
c.286A= (p.Ser96=)
n.262A=
2g.202467626A>CCA350399742BMPR2c.355A>C (p.Ser119Arg)
c.286A>C (p.Ser96Arg)
n.262A>C
2g.202467626A>GCA350399743BMPR2c.355A>G (p.Ser119Gly)
c.286A>G (p.Ser96Gly)
n.262A>G
 dbSNP gnomAD v2 gnomAD v4
2g.202467626A>TCA350399744BMPR2c.355A>T (p.Ser119Cys)
c.286A>T (p.Ser96Cys)
n.262A>T
2g.202467627G>ACA350399745BMPR2c.356G>A (p.Ser119Asn)
c.287G>A (p.Ser96Asn)
n.263G>A
 gnomAD v4
2g.202467627G>CCA350399746BMPR2c.356G>C (p.Ser119Thr)
c.287G>C (p.Ser96Thr)
n.263G>C
2g.202467627G>TCA350399747BMPR2c.356G>T (p.Ser119Ile)
c.287G>T (p.Ser96Ile)
n.263G>T
2g.202467627_202467629delinsGCACA1321510667BMPR2c.356_358delinsGCA (p.Ser119=)
c.287_289delinsGCA (p.Ser96=)
n.263_265delinsGCA
2g.202467628C>ACA350399748BMPR2c.357C>A (p.Ser119Arg)
c.288C>A (p.Ser96Arg)
n.264C>A
2g.202467628C=CA1321510668BMPR2c.357C= (p.Ser119=)
c.288C= (p.Ser96=)
n.264C=
2g.202467628C>GCA350399749BMPR2c.357C>G (p.Ser119Arg)
c.288C>G (p.Ser96Arg)
n.264C>G
2g.202467628C>TCA2061092BMPR2c.357C>T (p.Ser119=)
c.288C>T (p.Ser96=)
n.264C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467630_202467631delCA645294014BMPR2c.359_360del (p.Thr120ArgfsTer4)
c.290_291del (p.Thr97ArgfsTer4)
n.266_267del
 ClinVar dbSNP
2g.202467629A>CCA350399751BMPR2c.358A>C (p.Thr120Pro)
c.289A>C (p.Thr97Pro)
n.265A>C
2g.202467629A>GCA350399752BMPR2c.358A>G (p.Thr120Ala)
c.289A>G (p.Thr97Ala)
n.265A>G
 gnomAD v4
2g.202467629A>TCA350399750BMPR2c.358A>T (p.Thr120Ser)
c.289A>T (p.Thr97Ser)
n.265A>T
2g.202467630C>ACA350399754BMPR2c.359C>A (p.Thr120Lys)
c.290C>A (p.Thr97Lys)
n.266C>A
2g.202467630C>GCA350399753BMPR2c.359C>G (p.Thr120Arg)
c.290C>G (p.Thr97Arg)
n.266C>G
2g.202467630C>TCA350399755BMPR2c.359C>T (p.Thr120Ile)
c.290C>T (p.Thr97Ile)
n.266C>T
2g.202467631A>CCA430903855BMPR2c.360A>C (p.Thr120=)
c.291A>C (p.Thr97=)
n.267A>C
2g.202467631A>GCA430903854BMPR2c.360A>G (p.Thr120=)
c.291A>G (p.Thr97=)
n.267A>G
 gnomAD v4
2g.202467631A>TCA430903853BMPR2c.360A>T (p.Thr120=)
c.291A>T (p.Thr97=)
n.267A>T
2g.202467632G>ACA350399756BMPR2c.361G>A (p.Asp121Asn)
c.292G>A (p.Asp98Asn)
n.268G>A
 COSMIC
2g.202467632G>CCA350399758BMPR2c.361G>C (p.Asp121His)
c.292G>C (p.Asp98His)
n.268G>C
2g.202467632G>TCA350399757BMPR2c.361G>T (p.Asp121Tyr)
c.292G>T (p.Asp98Tyr)
n.268G>T
2g.202467633A>CCA350399759BMPR2c.362A>C (p.Asp121Ala)
c.293A>C (p.Asp98Ala)
n.269A>C
2g.202467633A>GCA350399760BMPR2c.362A>G (p.Asp121Gly)
c.293A>G (p.Asp98Gly)
n.269A>G
2g.202467633A>TCA350399761BMPR2c.362A>T (p.Asp121Val)
c.293A>T (p.Asp98Val)
n.269A>T
2g.202467634T>ACA350399762BMPR2c.363T>A (p.Asp121Glu)
c.294T>A (p.Asp98Glu)
n.270T>A
2g.202467634T>CCA430903858BMPR2c.363T>C (p.Asp121=)
c.294T>C (p.Asp98=)
n.270T>C
2g.202467634T>GCA350399763BMPR2c.363T>G (p.Asp121Glu)
c.294T>G (p.Asp98Glu)
n.270T>G
2g.202467635T>ACA350399764BMPR2c.364T>A (p.Leu122Ile)
c.295T>A (p.Leu99Ile)
n.271T>A
2g.202467635T>CCA430903859BMPR2c.364T>C (p.Leu122=)
c.295T>C (p.Leu99=)
n.271T>C
2g.202467635T>GCA350399765BMPR2c.364T>G (p.Leu122Val)
c.295T>G (p.Leu99Val)
n.271T>G
2g.202467636T>ACA350399766BMPR2c.365T>A (p.Leu122Ter)
c.296T>A (p.Leu99Ter)
n.272T>A
2g.202467636T>CCA350399767BMPR2c.365T>C (p.Leu122Ser)
c.296T>C (p.Leu99Ser)
n.272T>C
 COSMIC
2g.202467636T>GCA350399768BMPR2c.365T>G (p.Leu122Ter)
c.296T>G (p.Leu99Ter)
n.272T>G
2g.202467637A>CCA350399769BMPR2c.366A>C (p.Leu122Phe)
c.297A>C (p.Leu99Phe)
n.273A>C

Number of alleles fetched