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.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
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
2g.202467637A>GCA430903860BMPR2c.366A>G (p.Leu122=)
c.297A>G (p.Leu99=)
n.273A>G
2g.202467637A>TCA350399770BMPR2c.366A>T (p.Leu122Phe)
c.297A>T (p.Leu99Phe)
n.273A>T
gnomAD v4
2g.202467638T>ACA278093BMPR2c.367T>A (p.Cys123Ser)
c.298T>A (p.Cys100Ser)
n.274T>A
ClinVar dbSNP
2g.202467638T>CCA278091BMPR2c.367T>C (p.Cys123Arg)
c.298T>C (p.Cys100Arg)
n.274T>C
ClinVar dbSNP
2g.202467638T>GCA350399771BMPR2c.367T>G (p.Cys123Gly)
c.298T>G (p.Cys100Gly)
n.274T>G
2g.202467638T=CA1321510669BMPR2c.367T= (p.Cys123=)
c.298T= (p.Cys100=)
n.274T=
2g.202467639G>ACA350399772BMPR2c.368G>A (p.Cys123Tyr)
c.299G>A (p.Cys100Tyr)
n.275G>A
2g.202467639G>CCA350399773BMPR2c.368G>C (p.Cys123Ser)
c.299G>C (p.Cys100Ser)
n.275G>C
2g.202467639G>TCA350399774BMPR2c.368G>T (p.Cys123Phe)
c.299G>T (p.Cys100Phe)
n.275G>T
2g.202467640delCA2573051835BMPR2c.369del (p.Cys123Ter)
c.300del (p.Cys100Ter)
n.276del
ClinVar dbSNP
2g.202467640T>ACA350399775BMPR2c.369T>A (p.Cys123Ter)
c.300T>A (p.Cys100Ter)
n.276T>A
2g.202467640T>CCA430903861BMPR2c.369T>C (p.Cys123=)
c.300T>C (p.Cys100=)
n.276T>C
2g.202467640T>GCA350399776BMPR2c.369T>G (p.Cys123Trp)
c.300T>G (p.Cys100Trp)
n.276T>G
2g.202467640T=CA1321510670BMPR2c.369T= (p.Cys123=)
c.300T= (p.Cys100=)
n.276T=
2g.202467641A=CA1321510671BMPR2c.370A= (p.Asn124=)
c.301A= (p.Asn101=)
n.277A=
2g.202467641A>CCA350399777BMPR2c.370A>C (p.Asn124His)
c.301A>C (p.Asn101His)
n.277A>C
2g.202467641A>GCA350399778BMPR2c.370A>G (p.Asn124Asp)
c.301A>G (p.Asn101Asp)
n.277A>G
ClinVar dbSNP
2g.202467641A>TCA350399780BMPR2c.370A>T (p.Asn124Tyr)
c.301A>T (p.Asn101Tyr)
n.277A>T
2g.202467642dupCA645294015BMPR2c.371dup (p.Asn124LysfsTer6)
c.302dup (p.Asn101LysfsTer6)
n.278dup
ClinVar dbSNP
2g.202467642A>CCA350399781BMPR2c.371A>C (p.Asn124Thr)
c.302A>C (p.Asn101Thr)
n.278A>C
2g.202467642A>GCA350399782BMPR2c.371A>G (p.Asn124Ser)
c.302A>G (p.Asn101Ser)
n.278A>G
2g.202467642A>TCA350399783BMPR2c.371A>T (p.Asn124Ile)
c.302A>T (p.Asn101Ile)
n.278A>T
2g.202467643T>ACA350399784BMPR2c.372T>A (p.Asn124Lys)
c.303T>A (p.Asn101Lys)
n.279T>A
2g.202467643T>CCA430903862BMPR2c.372T>C (p.Asn124=)
c.303T>C (p.Asn101=)
n.279T>C
2g.202467643T>GCA350399785BMPR2c.372T>G (p.Asn124Lys)
c.303T>G (p.Asn101Lys)
n.279T>G
2g.202467644G>ACA350399786BMPR2c.373G>A (p.Val125Ile)
c.304G>A (p.Val102Ile)
n.280G>A
2g.202467644G>CCA350399787BMPR2c.373G>C (p.Val125Leu)
c.304G>C (p.Val102Leu)
n.280G>C
2g.202467644G>TCA350399788BMPR2c.373G>T (p.Val125Phe)
c.304G>T (p.Val102Phe)
n.280G>T
2g.202467645T>ACA350399789BMPR2c.374T>A (p.Val125Asp)
c.305T>A (p.Val102Asp)
n.281T>A
2g.202467645T>CCA350399790BMPR2c.374T>C (p.Val125Ala)
c.305T>C (p.Val102Ala)
n.281T>C
2g.202467645T>GCA350399791BMPR2c.374T>G (p.Val125Gly)
c.305T>G (p.Val102Gly)
n.281T>G
2g.202467646C>ACA430903866BMPR2c.375C>A (p.Val125=)
c.306C>A (p.Val102=)
n.282C>A
gnomAD v4
2g.202467646C>GCA430903865BMPR2c.375C>G (p.Val125=)
c.306C>G (p.Val102=)
n.282C>G
gnomAD v4
2g.202467646C>TCA430903864BMPR2c.375C>T (p.Val125=)
c.306C>T (p.Val102=)
n.282C>T
2g.202467647A>CCA350399794BMPR2c.376A>C (p.Asn126His)
c.307A>C (p.Asn103His)
n.283A>C
2g.202467647A>GCA350399792BMPR2c.376A>G (p.Asn126Asp)
c.307A>G (p.Asn103Asp)
n.283A>G
2g.202467647A>TCA350399793BMPR2c.376A>T (p.Asn126Tyr)
c.307A>T (p.Asn103Tyr)
n.283A>T
2g.202467648A=CA1321510677BMPR2c.377A= (p.Asn126=)
c.308A= (p.Asn103=)
n.284A=
2g.202467648A>CCA350399795BMPR2c.377A>C (p.Asn126Thr)
c.308A>C (p.Asn103Thr)
n.284A>C
2g.202467648A>GCA323070BMPR2c.377A>G (p.Asn126Ser)
c.308A>G (p.Asn103Ser)
n.284A>G
ClinVar dbSNP
2g.202467648A>TCA350399796BMPR2c.377A>T (p.Asn126Ile)
c.308A>T (p.Asn103Ile)
n.284A>T
2g.202467649C>ACA350399797BMPR2c.378C>A (p.Asn126Lys)
c.309C>A (p.Asn103Lys)
n.285C>A
2g.202467649C>GCA350399798BMPR2c.378C>G (p.Asn126Lys)
c.309C>G (p.Asn103Lys)
n.285C>G
2g.202467649C>TCA430903869BMPR2c.378C>T (p.Asn126=)
c.309C>T (p.Asn103=)
n.285C>T
2g.202467650T>ACA350399799BMPR2c.379T>A (p.Phe127Ile)
c.310T>A (p.Phe104Ile)
n.286T>A
2g.202467650T>CCA350399801BMPR2c.379T>C (p.Phe127Leu)
c.310T>C (p.Phe104Leu)
n.286T>C
2g.202467650T>GCA350399800BMPR2c.379T>G (p.Phe127Val)
c.310T>G (p.Phe104Val)
n.286T>G
2g.202467651T>ACA350399802BMPR2c.380T>A (p.Phe127Tyr)
c.311T>A (p.Phe104Tyr)
n.287T>A
2g.202467651T>CCA350399803BMPR2c.380T>C (p.Phe127Ser)
c.311T>C (p.Phe104Ser)
n.287T>C
2g.202467651T>GCA350399804BMPR2c.380T>G (p.Phe127Cys)
c.311T>G (p.Phe104Cys)
n.287T>G
2g.202467652T>ACA350399805BMPR2c.381T>A (p.Phe127Leu)
c.312T>A (p.Phe104Leu)
n.288T>A
2g.202467652T>CCA430903870BMPR2c.381T>C (p.Phe127=)
c.312T>C (p.Phe104=)
n.288T>C
gnomAD v4
2g.202467652T>GCA350399806BMPR2c.381T>G (p.Phe127Leu)
c.312T>G (p.Phe104Leu)
n.288T>G
2g.202467653A>CCA350399807BMPR2c.382A>C (p.Thr128Pro)
c.313A>C (p.Thr105Pro)
n.289A>C
2g.202467653A>GCA350399808BMPR2c.382A>G (p.Thr128Ala)
c.313A>G (p.Thr105Ala)
n.289A>G
2g.202467653A>TCA350399809BMPR2c.382A>T (p.Thr128Ser)
c.313A>T (p.Thr105Ser)
n.289A>T
2g.202467654C>ACA350399810BMPR2c.383C>A (p.Thr128Asn)
c.314C>A (p.Thr105Asn)
n.290C>A
2g.202467654C>GCA350399811BMPR2c.383C>G (p.Thr128Ser)
c.314C>G (p.Thr105Ser)
n.290C>G
2g.202467654C>TCA350399812BMPR2c.383C>T (p.Thr128Ile)
c.314C>T (p.Thr105Ile)
n.290C>T
2g.202467655T>ACA430903871BMPR2c.384T>A (p.Thr128=)
c.315T>A (p.Thr105=)
n.291T>A
2g.202467655T>CCA430903872BMPR2c.384T>C (p.Thr128=)
c.315T>C (p.Thr105=)
n.291T>C
2g.202467655T>GCA430903873BMPR2c.384T>G (p.Thr128=)
c.315T>G (p.Thr105=)
n.291T>G
2g.202467656G>ACA350399815BMPR2c.385G>A (p.Glu129Lys)
c.316G>A (p.Glu106Lys)
n.292G>A
2g.202467656G>CCA350399814BMPR2c.385G>C (p.Glu129Gln)
c.316G>C (p.Glu106Gln)
n.292G>C
2g.202467656G>TCA350399813BMPR2c.385G>T (p.Glu129Ter)
c.316G>T (p.Glu106Ter)
n.292G>T
2g.202467657A>CCA350399817BMPR2c.386A>C (p.Glu129Ala)
c.317A>C (p.Glu106Ala)
n.293A>C
2g.202467657A>GCA350399816BMPR2c.386A>G (p.Glu129Gly)
c.317A>G (p.Glu106Gly)
n.293A>G
2g.202467657A>TCA350399818BMPR2c.386A>T (p.Glu129Val)
c.317A>T (p.Glu106Val)
n.293A>T
2g.202467658G>ACA430903874BMPR2c.387G>A (p.Glu129=)
c.318G>A (p.Glu106=)
n.294G>A
2g.202467658G>CCA350399819BMPR2c.387G>C (p.Glu129Asp)
c.318G>C (p.Glu106Asp)
n.294G>C
gnomAD v4
2g.202467658G>TCA350399820BMPR2c.387G>T (p.Glu129Asp)
c.318G>T (p.Glu106Asp)
n.294G>T
gnomAD v4
2g.202467659A>CCA350399821BMPR2c.388A>C (p.Asn130His)
c.319A>C (p.Asn107His)
n.295A>C
2g.202467659A>GCA350399822BMPR2c.388A>G (p.Asn130Asp)
c.319A>G (p.Asn107Asp)
n.295A>G
gnomAD v4
2g.202467659A>TCA350399823BMPR2c.388A>T (p.Asn130Tyr)
c.319A>T (p.Asn107Tyr)
n.295A>T
2g.202467660A>CCA350399824BMPR2c.389A>C (p.Asn130Thr)
c.320A>C (p.Asn107Thr)
n.296A>C
2g.202467660A>GCA350399825BMPR2c.389A>G (p.Asn130Ser)
c.320A>G (p.Asn107Ser)
n.296A>G
COSMIC
2g.202467660A>TCA350399826BMPR2c.389A>T (p.Asn130Ile)
c.320A>T (p.Asn107Ile)
n.296A>T
2g.202467661T>ACA350399827BMPR2c.390T>A (p.Asn130Lys)
c.321T>A (p.Asn107Lys)
n.297T>A
2g.202467661T>CCA430903875BMPR2c.390T>C (p.Asn130=)
c.321T>C (p.Asn107=)
n.297T>C
2g.202467661T>GCA350399828BMPR2c.390T>G (p.Asn130Lys)
c.321T>G (p.Asn107Lys)
n.297T>G
2g.202467662T>ACA350399829BMPR2c.391T>A (p.Phe131Ile)
c.322T>A (p.Phe108Ile)
n.298T>A
2g.202467662T>CCA350399830BMPR2c.391T>C (p.Phe131Leu)
c.322T>C (p.Phe108Leu)
n.298T>C
2g.202467662T>GCA350399831BMPR2c.391T>G (p.Phe131Val)
c.322T>G (p.Phe108Val)
n.298T>G
2g.202467663T>ACA350399834BMPR2c.392T>A (p.Phe131Tyr)
c.323T>A (p.Phe108Tyr)
n.299T>A
2g.202467663T>CCA350399832BMPR2c.392T>C (p.Phe131Ser)
c.323T>C (p.Phe108Ser)
n.299T>C
2g.202467663T>GCA350399833BMPR2c.392T>G (p.Phe131Cys)
c.323T>G (p.Phe108Cys)
n.299T>G
2g.202467664T>ACA350399835BMPR2c.393T>A (p.Phe131Leu)
c.324T>A (p.Phe108Leu)
n.300T>A
2g.202467664T>CCA430903876BMPR2c.393T>C (p.Phe131=)
c.324T>C (p.Phe108=)
n.300T>C
dbSNP
2g.202467664T>GCA350399836BMPR2c.393T>G (p.Phe131Leu)
c.324T>G (p.Phe108Leu)
n.300T>G
2g.202467664T=CA1321510679BMPR2c.393T= (p.Phe131=)
c.324T= (p.Phe108=)
n.300T=
2g.202467665C>ACA350399837BMPR2c.394C>A (p.Pro132Thr)
c.325C>A (p.Pro109Thr)
n.301C>A
2g.202467665C>GCA350399838BMPR2c.394C>G (p.Pro132Ala)
c.325C>G (p.Pro109Ala)
n.301C>G
2g.202467665C>TCA350399839BMPR2c.394C>T (p.Pro132Ser)
c.325C>T (p.Pro109Ser)
n.301C>T
2g.202467666C>ACA350399840BMPR2c.395C>A (p.Pro132Gln)
c.326C>A (p.Pro109Gln)
n.302C>A
2g.202467666C>GCA350399841BMPR2c.395C>G (p.Pro132Arg)
c.326C>G (p.Pro109Arg)
n.302C>G
2g.202467666C>TCA350399842BMPR2c.395C>T (p.Pro132Leu)
c.326C>T (p.Pro109Leu)
n.302C>T
2g.202467667A=CA1321510681BMPR2c.396A= (p.Pro132=)
c.327A= (p.Pro109=)
n.303A=
2g.202467667A>CCA430903879BMPR2c.396A>C (p.Pro132=)
c.327A>C (p.Pro109=)
n.303A>C
dbSNP
2g.202467667A>GCA430903878BMPR2c.396A>G (p.Pro132=)
c.327A>G (p.Pro109=)
n.303A>G
dbSNP
2g.202467667A>TCA430903877BMPR2c.396A>T (p.Pro132=)
c.327A>T (p.Pro109=)
n.303A>T
2g.202467668C>ACA350399843BMPR2c.397C>A (p.Pro133Thr)
c.328C>A (p.Pro110Thr)
n.304C>A
2g.202467668C>GCA350399844BMPR2c.397C>G (p.Pro133Ala)
c.328C>G (p.Pro110Ala)
n.304C>G
2g.202467668C>TCA350399845BMPR2c.397C>T (p.Pro133Ser)
c.328C>T (p.Pro110Ser)
n.304C>T
2g.202467669C>ACA350399848BMPR2c.398C>A (p.Pro133His)
c.329C>A (p.Pro110His)
n.305C>A
2g.202467669C>GCA350399847BMPR2c.398C>G (p.Pro133Arg)
c.329C>G (p.Pro110Arg)
n.305C>G
2g.202467669C>TCA350399846BMPR2c.398C>T (p.Pro133Leu)
c.329C>T (p.Pro110Leu)
n.305C>T
gnomAD v4
2g.202467669_202467670delinsCTCA1321510685BMPR2c.398_399delinsCT (p.Pro133=)
c.329_330delinsCT (p.Pro110=)
n.305_306delinsCT
2g.202467670delCA645294016BMPR2c.399del (p.Pro134LeufsTer18)
c.330del (p.Pro111LeufsTer18)
n.306del
ClinVar dbSNP
2g.202467670T>ACA430903880BMPR2c.399T>A (p.Pro133=)
c.330T>A (p.Pro110=)
n.306T>A
2g.202467670T>CCA430903882BMPR2c.399T>C (p.Pro133=)
c.330T>C (p.Pro110=)
n.306T>C
2g.202467670T>GCA430903881BMPR2c.399T>G (p.Pro133=)
c.330T>G (p.Pro110=)
n.306T>G
2g.202467671C>ACA350399849BMPR2c.400C>A (p.Pro134Thr)
c.331C>A (p.Pro111Thr)
n.307C>A
2g.202467671C>GCA350399850BMPR2c.400C>G (p.Pro134Ala)
c.331C>G (p.Pro111Ala)
n.307C>G
2g.202467671C>TCA350399851BMPR2c.400C>T (p.Pro134Ser)
c.331C>T (p.Pro111Ser)
n.307C>T
gnomAD v4
2g.202467672C>ACA350399852BMPR2c.401C>A (p.Pro134His)
c.332C>A (p.Pro111His)
n.308C>A
2g.202467672C>GCA350399853BMPR2c.401C>G (p.Pro134Arg)
c.332C>G (p.Pro111Arg)
n.308C>G
COSMIC
2g.202467672C>TCA350399854BMPR2c.401C>T (p.Pro134Leu)
c.332C>T (p.Pro111Leu)
n.308C>T
gnomAD v4
2g.202467673T>ACA2061093BMPR2c.402T>A (p.Pro134=)
c.333T>A (p.Pro111=)
n.309T>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467673T>CCA430903883BMPR2c.402T>C (p.Pro134=)
c.333T>C (p.Pro111=)
n.309T>C
2g.202467673T>GCA430903884BMPR2c.402T>G (p.Pro134=)
c.333T>G (p.Pro111=)
n.309T>G
2g.202467673T=CA1321510689BMPR2c.402T= (p.Pro134=)
c.333T= (p.Pro111=)
n.309T=
2g.202467674G>ACA350399855BMPR2c.403G>A (p.Asp135Asn)
c.334G>A (p.Asp112Asn)
n.310G>A
2g.202467674G>CCA350399856BMPR2c.403G>C (p.Asp135His)
c.334G>C (p.Asp112His)
n.310G>C
2g.202467674G>TCA350399857BMPR2c.403G>T (p.Asp135Tyr)
c.334G>T (p.Asp112Tyr)
n.310G>T
2g.202467674_202467676delinsGACCA1321510692BMPR2c.403_405delinsGAC (p.Asp135=)
c.334_336delinsGAC (p.Asp112=)
n.310_312delinsGAC
2g.202467674_202467679delinsGACACACA1321510693BMPR2c.403_408delinsGACACA (p.Asp135=)
c.334_339delinsGACACA (p.Asp112=)
n.310_315delinsGACACA
2g.202467675A>CCA350399858BMPR2c.404A>C (p.Asp135Ala)
c.335A>C (p.Asp112Ala)
n.311A>C
2g.202467675A>GCA350399859BMPR2c.404A>G (p.Asp135Gly)
c.335A>G (p.Asp112Gly)
n.311A>G
2g.202467675A>TCA350399860BMPR2c.404A>T (p.Asp135Val)
c.335A>T (p.Asp112Val)
n.311A>T
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.202467676C>ACA350399862BMPR2c.405C>A (p.Asp135Glu)
c.336C>A (p.Asp112Glu)
n.312C>A
2g.202467676C>GCA350399861BMPR2c.405C>G (p.Asp135Glu)
c.336C>G (p.Asp112Glu)
n.312C>G
2g.202467676C>TCA430903885BMPR2c.405C>T (p.Asp135=)
c.336C>T (p.Asp112=)
n.312C>T
2g.202467677A>CCA350399863BMPR2c.406A>C (p.Thr136Pro)
c.337A>C (p.Thr113Pro)
n.313A>C
2g.202467677A>GCA350399864BMPR2c.406A>G (p.Thr136Ala)
c.337A>G (p.Thr113Ala)
n.313A>G
2g.202467677A>TCA350399865BMPR2c.406A>T (p.Thr136Ser)
c.337A>T (p.Thr113Ser)
n.313A>T
2g.202467680_202467682delCA2662704388BMPR2c.409_411del (p.Thr137del)
c.340_342del (p.Thr114del)
n.316_318del
gnomAD v4
2g.202467678C>ACA350399866BMPR2c.407C>A (p.Thr136Lys)
c.338C>A (p.Thr113Lys)
n.314C>A
2g.202467678C>GCA350399867BMPR2c.407C>G (p.Thr136Arg)
c.338C>G (p.Thr113Arg)
n.314C>G
2g.202467678C>TCA350399868BMPR2c.407C>T (p.Thr136Ile)
c.338C>T (p.Thr113Ile)
n.314C>T
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
2g.202467689A>CCA350399885BMPR2c.418A>C (p.Ser140Arg)
c.349A>C (p.Ser117Arg)
n.325A>C
2g.202467689A>GCA350399886BMPR2c.418A>G (p.Ser140Gly)
c.349A>G (p.Ser117Gly)
n.325A>G
2g.202467689A>TCA350399887BMPR2c.418A>T (p.Ser140Cys)
c.349A>T (p.Ser117Cys)
n.325A>T
2g.202467694_202467697delCA645294019BMPR2c.418+5_418+8del
c.349+5_349+8del
n.325+5_325+8del
ClinVar dbSNP
2g.202467690delCA2586965560BMPR2c.418+1del (n.418+1del)
c.349+1del (n.349+1del)
n.325+1del
2g.202467690G>ACA350399888BMPR2c.418+1G>A (n.418+1G>A)
c.349+1G>A (n.349+1G>A)
n.325+1G>A
2g.202467690G>CCA350399889BMPR2c.418+1G>C (n.418+1G>C)
c.349+1G>C (n.349+1G>C)
n.325+1G>C
ClinVar dbSNP
2g.202467690G=CA1321510752BMPR2c.418+1G= (n.418+1G=)
c.349+1G= (n.349+1G=)
n.325+1G=
2g.202467690G>TCA350399890BMPR2c.418+1G>T (n.418+1G>T)
c.349+1G>T (n.349+1G>T)
n.325+1G>T
ClinVar dbSNP
2g.202467691T>ACA350399893BMPR2c.418+2T>A (n.418+2T>A)
c.349+2T>A (n.349+2T>A)
n.325+2T>A
2g.202467691T>CCA350399891BMPR2c.418+2T>C (n.418+2T>C)
c.349+2T>C (n.349+2T>C)
n.325+2T>C
2g.202467691T>GCA350399892BMPR2c.418+2T>G (n.418+2T>G)
c.349+2T>G (n.349+2T>G)
n.325+2T>G
2g.202467691_202467693delinsGAGCA645294020BMPR2c.418+2_418+4delinsGAG (n.418+2_418+4delinsGAG)
c.349+2_349+4delinsGAG (n.349+2_349+4delinsGAG)
n.325+2_325+4delinsGAG
ClinVar dbSNP
2g.202467691_202467693delinsTAACA1321510759BMPR2c.418+2_418+4delinsTAA (n.418+2_418+4delinsTAA)
c.349+2_349+4delinsTAA (n.349+2_349+4delinsTAA)
n.325+2_325+4delinsTAA
2g.202467691_202467696delinsTAAGTACA1321510762BMPR2c.418+2_418+7delinsTAAGTA (n.418+2_418+7delinsTAAGTA)
c.349+2_349+7delinsTAAGTA (n.349+2_349+7delinsTAAGTA)
n.325+2_325+7delinsTAAGTA
2g.202467692A=CA1321510764BMPR2c.418+3A= (n.418+3A=)
c.349+3A= (n.349+3A=)
n.325+3A=
2g.202467692A>TCA645294021BMPR2c.418+3A>T (n.418+3A>T)
c.349+3A>T (n.349+3A>T)
n.325+3A>T
ClinVar dbSNP
2g.202467698_202467702delCA539387820BMPR2c.418+9_418+13del (n.418+9_418+13del)
c.349+9_349+13del (n.349+9_349+13del)
n.325+9_325+13del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467693A>GCA2586965561BMPR2c.418+4A>G (n.418+4A>G)
c.349+4A>G (n.349+4A>G)
n.325+4A>G
2g.202467694G>ACA645294022BMPR2c.418+5G>A (n.418+5G>A)
c.349+5G>A (n.349+5G>A)
n.325+5G>A
ClinVar dbSNP
2g.202467694G=CA1321510770BMPR2c.418+5G= (n.418+5G=)
c.349+5G= (n.349+5G=)
n.325+5G=
2g.202467697A>GCA2662704389BMPR2c.418+8A>G (n.418+8A>G)
c.349+8A>G (n.349+8A>G)
n.325+8A>G
gnomAD v4
2g.202467700delCA2577215520BMPR2c.418+11del (n.418+11del)
c.349+11del (n.349+11del)
n.325+11del
2g.202467700T>ACA2061098BMPR2c.418+11T>A (n.418+11T>A)
c.349+11T>A (n.349+11T>A)
n.325+11T>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467700T=CA1321510772BMPR2c.418+11T= (n.418+11T=)
c.349+11T= (n.349+11T=)
n.325+11T=
2g.202467702A=CA1321510774BMPR2c.418+13A= (n.418+13A=)
c.349+13A= (n.349+13A=)
n.325+13A=
2g.202467702A>CCA2061099BMPR2c.418+13A>C (n.418+13A>C)
c.349+13A>C (n.349+13A>C)
n.325+13A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467703C>ACA2753903982BMPR2c.418+14C>A (n.418+14C>A)
c.349+14C>A (n.349+14C>A)
n.325+14C>A
2g.202467703C=CA1321510777BMPR2c.418+14C= (n.418+14C=)
c.349+14C= (n.349+14C=)
n.325+14C=
2g.202467703C>GCA539387821BMPR2c.418+14C>G (n.418+14C>G)
c.349+14C>G (n.349+14C>G)
n.325+14C>G
dbSNP gnomAD v2 gnomAD v4
2g.202467704delCA2662704390BMPR2c.418+15del (n.418+15del)
c.349+15del (n.349+15del)
n.325+15del
gnomAD v4
2g.202467705A=CA1321510779BMPR2c.418+16A= (n.418+16A=)
c.349+16A= (n.349+16A=)
n.325+16A=
2g.202467705A>GCA2061100BMPR2c.418+16A>G (n.418+16A>G)
c.349+16A>G (n.349+16A>G)
n.325+16A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467706A=CA1321510781BMPR2c.418+17A= (n.418+17A=)
c.349+17A= (n.349+17A=)
n.325+17A=
2g.202467706A>GCA2061101BMPR2c.418+17A>G (n.418+17A>G)
c.349+17A>G (n.349+17A>G)
n.325+17A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467708T>ACA539387822BMPR2c.418+19T>A (n.418+19T>A)
c.349+19T>A (n.349+19T>A)
n.325+19T>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467708T>CCA2577215521BMPR2c.418+19T>C (n.418+19T>C)
c.349+19T>C (n.349+19T>C)
n.325+19T>C
gnomAD v4
2g.202467708T=CA1321510784BMPR2c.418+19T= (n.418+19T=)
c.349+19T= (n.349+19T=)
n.325+19T=
2g.202467711T>CCA430903894BMPR2c.418+22T>C (n.418+22T>C)
c.349+22T>C (n.349+22T>C)
n.325+22T>C
2g.202467711T>GCA2662704391BMPR2c.418+22T>G (n.418+22T>G)
c.349+22T>G (n.349+22T>G)
n.325+22T>G
gnomAD v4
2g.202467715delCA2662704392BMPR2c.418+26del (n.418+26del)
c.349+26del (n.349+26del)
n.325+26del
gnomAD v4
2g.202467714T>ACA539387823BMPR2c.418+25T>A (n.418+25T>A)
c.349+25T>A (n.349+25T>A)
n.325+25T>A
dbSNP gnomAD v2 gnomAD v4
2g.202467714T>CCA2662704393BMPR2c.418+25T>C (n.418+25T>C)
c.349+25T>C (n.349+25T>C)
n.325+25T>C
gnomAD v4
2g.202467714T=CA1321510785BMPR2c.418+25T= (n.418+25T=)
c.349+25T= (n.349+25T=)
n.325+25T=
2g.202467716G>ACA647618504BMPR2c.418+27G>A (n.418+27G>A)
c.349+27G>A (n.349+27G>A)
n.325+27G>A
COSMIC
2g.202467718A=CA1321510789BMPR2c.418+29A= (n.418+29A=)
c.349+29A= (n.349+29A=)
n.325+29A=
2g.202467718A>GCA2061102BMPR2c.418+29A>G (n.418+29A>G)
c.349+29A>G (n.349+29A>G)
n.325+29A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched