Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202508280_202517537delCA915941637BMPR2c.419-5439_622-1285del
c.350-5439_553-1285del
 ClinVar
2g.202514806_202514823delinsTAAGTGTAATATTATAAACA1321537800BMPR2c.530-82_530-65delinsTAAGTGTAATATTATAAA (n.530-82_530-65delinsTAAGTGTAATATTATAAA)
c.461-82_461-65delinsTAAGTGTAATATTATAAA (n.461-82_461-65delinsTAAGTGTAATATTATAAA)
2g.202514815_202514831delCA1041339644BMPR2c.530-73_530-57del (n.530-73_530-57del)
c.461-73_461-57del (n.461-73_461-57del)
 dbSNP gnomAD v3 gnomAD v4
2g.202514808A>GCA2662705476BMPR2c.530-80A>G (n.530-80A>G)
c.461-80A>G (n.461-80A>G)
 gnomAD v4
2g.202514809G>ACA538970279BMPR2c.530-79G>A (n.530-79G>A)
c.461-79G>A (n.461-79G>A)
 dbSNP gnomAD v2
2g.202514809G=CA1321537802BMPR2c.530-79G= (n.530-79G=)
c.461-79G= (n.461-79G=)
2g.202514809G>TCA2662705478BMPR2c.530-79G>T (n.530-79G>T)
c.461-79G>T (n.461-79G>T)
 gnomAD v4
2g.202514811_202514812delCA2662705477BMPR2c.530-77_530-76del (n.530-77_530-76del)
c.461-77_461-76del (n.461-77_461-76del)
 gnomAD v4
2g.202514810T>CCA2662705479BMPR2c.530-78T>C (n.530-78T>C)
c.461-78T>C (n.461-78T>C)
 gnomAD v4
2g.202514811G>ACA1041339649BMPR2c.530-77G>A (n.530-77G>A)
c.461-77G>A (n.461-77G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.202514811G=CA1321537803BMPR2c.530-77G= (n.530-77G=)
c.461-77G= (n.461-77G=)
2g.202514813A>CCA2577215559BMPR2c.530-75A>C (n.530-75A>C)
c.461-75A>C (n.461-75A>C)
2g.202514814delCA2662705480BMPR2c.530-74del (n.530-74del)
c.461-74del (n.461-74del)
 gnomAD v4
2g.202514814A>CCA2662705481BMPR2c.530-74A>C (n.530-74A>C)
c.461-74A>C (n.461-74A>C)
 gnomAD v4
2g.202514817T>CCA2662705482BMPR2c.530-71T>C (n.530-71T>C)
c.461-71T>C (n.461-71T>C)
 gnomAD v4
2g.202514818T>GCA1041339650BMPR2c.530-70T>G (n.530-70T>G)
c.461-70T>G (n.461-70T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.202514818T=CA1321537804BMPR2c.530-70T= (n.530-70T=)
c.461-70T= (n.461-70T=)
2g.202514819A>GCA2577215560BMPR2c.530-69A>G (n.530-69A>G)
c.461-69A>G (n.461-69A>G)
2g.202514820T>CCA64012765BMPR2c.530-68T>C (n.530-68T>C)
c.461-68T>C (n.461-68T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.202514820T=CA1321537805BMPR2c.530-68T= (n.530-68T=)
c.461-68T= (n.461-68T=)
2g.202514821A=CA1321537806BMPR2c.530-67A= (n.530-67A=)
c.461-67A= (n.461-67A=)
2g.202514821A>GCA763445951BMPR2c.530-67A>G (n.530-67A>G)
c.461-67A>G (n.461-67A>G)
 dbSNP
2g.202514825delCA2662705484BMPR2c.530-63del (n.530-63del)
c.461-63del (n.461-63del)
 gnomAD v4
2g.202514824_202514834delCA2662705483BMPR2c.530-64_530-54del (n.530-64_530-54del)
c.461-64_461-54del (n.461-64_461-54del)
 gnomAD v4
2g.202514823A>GCA2662705485BMPR2c.530-65A>G (n.530-65A>G)
c.461-65A>G (n.461-65A>G)
 gnomAD v4
2g.202514824A>CCA2577215561BMPR2c.530-64A>C (n.530-64A>C)
c.461-64A>C (n.461-64A>C)
2g.202514825A>GCA2662705486BMPR2c.530-63A>G (n.530-63A>G)
c.461-63A>G (n.461-63A>G)
 gnomAD v4
2g.202514826G>ACA2577215562BMPR2c.530-62G>A (n.530-62G>A)
c.461-62G>A (n.461-62G>A)
 gnomAD v4
2g.202514827T>CCA2662705487BMPR2c.530-61T>C (n.530-61T>C)
c.461-61T>C (n.461-61T>C)
 gnomAD v4
2g.202514828G>ACA763445952BMPR2c.530-60G>A (n.530-60G>A)
c.461-60G>A (n.461-60G>A)
 dbSNP gnomAD v4
2g.202514828G=CA1321537807BMPR2c.530-60G= (n.530-60G=)
c.461-60G= (n.461-60G=)
2g.202514834delCA2662705488BMPR2c.530-54del (n.530-54del)
c.461-54del (n.461-54del)
 gnomAD v4
2g.202514833_202514834delCA2577215563BMPR2c.530-55_530-54del (n.530-55_530-54del)
c.461-55_461-54del (n.461-55_461-54del)
2g.202514831A>CCA2753905537BMPR2c.530-57A>C (n.530-57A>C)
c.461-57A>C (n.461-57A>C)
2g.202514834A=CA1321537808BMPR2c.530-54A= (n.530-54A=)
c.461-54A= (n.461-54A=)
2g.202514834A>GCA2662705489BMPR2c.530-54A>G (n.530-54A>G)
c.461-54A>G (n.461-54A>G)
 gnomAD v4
2g.202514834A>TCA1321537809BMPR2c.530-54A>T (n.530-54A>T)
c.461-54A>T (n.461-54A>T)
 dbSNP gnomAD v4
2g.202514835G>ACA2577215564BMPR2c.530-53G>A (n.530-53G>A)
c.461-53G>A (n.461-53G>A)
2g.202514835G=CA1321537810BMPR2c.530-53G= (n.530-53G=)
c.461-53G= (n.461-53G=)
2g.202514835G>TCA1321537811BMPR2c.530-53G>T (n.530-53G>T)
c.461-53G>T (n.461-53G>T)
 dbSNP gnomAD v4
2g.202514836delCA2662705490BMPR2c.530-52del (n.530-52del)
c.461-52del (n.461-52del)
 gnomAD v4
2g.202514836A=CA1321537812BMPR2c.530-52A= (n.530-52A=)
c.461-52A= (n.461-52A=)
2g.202514836A>CCA1321537813BMPR2c.530-52A>C (n.530-52A>C)
c.461-52A>C (n.461-52A>C)
 dbSNP
2g.202514836A>GCA2662705491BMPR2c.530-52A>G (n.530-52A>G)
c.461-52A>G (n.461-52A>G)
 gnomAD v4
2g.202514836A>TCA2662705492BMPR2c.530-52A>T (n.530-52A>T)
c.461-52A>T (n.461-52A>T)
 gnomAD v4
2g.202514838_202514839delCA2577215565BMPR2c.530-50_530-49del (n.530-50_530-49del)
c.461-50_461-49del (n.461-50_461-49del)
2g.202514837T>CCA1041339652BMPR2c.530-51T>C (n.530-51T>C)
c.461-51T>C (n.461-51T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.202514837T=CA1321537814BMPR2c.530-51T= (n.530-51T=)
c.461-51T= (n.461-51T=)
2g.202514839T>ACA538970632BMPR2c.530-49T>A (n.530-49T>A)
c.461-49T>A (n.461-49T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.202514839T>CCA64012770BMPR2c.530-49T>C (n.530-49T>C)
c.461-49T>C (n.461-49T>C)
 dbSNP gnomAD v4
2g.202514839T=CA1321537815BMPR2c.530-49T= (n.530-49T=)
c.461-49T= (n.461-49T=)
2g.202514841_202514843dupCA1321537816BMPR2c.530-47_530-45dup (n.530-47_530-45dup)
c.461-47_461-45dup (n.461-47_461-45dup)
 dbSNP
2g.202514841C>ACA2662705493BMPR2c.530-47C>A (n.530-47C>A)
c.461-47C>A (n.461-47C>A)
 gnomAD v4
2g.202514841C>TCA2662705494BMPR2c.530-47C>T (n.530-47C>T)
c.461-47C>T (n.461-47C>T)
 gnomAD v4
2g.202514843T>CCA2662705496BMPR2c.530-45T>C (n.530-45T>C)
c.461-45T>C (n.461-45T>C)
 gnomAD v4
2g.202514846delCA2662705495BMPR2c.530-42del (n.530-42del)
c.461-42del (n.461-42del)
 gnomAD v4
2g.202514845T>ACA2577215566BMPR2c.530-43T>A (n.530-43T>A)
c.461-43T>A (n.461-43T>A)
2g.202514849G>ACA2662705497BMPR2c.530-39G>A (n.530-39G>A)
c.461-39G>A (n.461-39G>A)
 gnomAD v4
2g.202514851A=CA1321537817BMPR2c.530-37A= (n.530-37A=)
c.461-37A= (n.461-37A=)
2g.202514851A>GCA538970634BMPR2c.530-37A>G (n.530-37A>G)
c.461-37A>G (n.461-37A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202514852A>GCA2662705498BMPR2c.530-36A>G (n.530-36A>G)
c.461-36A>G (n.461-36A>G)
 gnomAD v4
2g.202514853A>GCA2662705499BMPR2c.530-35A>G (n.530-35A>G)
c.461-35A>G (n.461-35A>G)
 gnomAD v4
2g.202514856A=CA1321537818BMPR2c.530-32A= (n.530-32A=)
c.461-32A= (n.461-32A=)
2g.202514856A>GCA2061141BMPR2c.530-32A>G (n.530-32A>G)
c.461-32A>G (n.461-32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514857T>CCA1041339653BMPR2c.530-31T>C (n.530-31T>C)
c.461-31T>C (n.461-31T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.202514857T=CA1321537819BMPR2c.530-31T= (n.530-31T=)
c.461-31T= (n.461-31T=)
2g.202514858A>TCA2662705500BMPR2c.530-30A>T (n.530-30A>T)
c.461-30A>T (n.461-30A>T)
 gnomAD v4
2g.202514859T>ACA2662705501BMPR2c.530-29T>A (n.530-29T>A)
c.461-29T>A (n.461-29T>A)
 gnomAD v4
2g.202514859T>CCA1321537821BMPR2c.530-29T>C (n.530-29T>C)
c.461-29T>C (n.461-29T>C)
 dbSNP gnomAD v4
2g.202514859T=CA1321537820BMPR2c.530-29T= (n.530-29T=)
c.461-29T= (n.461-29T=)
2g.202514860A=CA1321537822BMPR2c.530-28A= (n.530-28A=)
c.461-28A= (n.461-28A=)
2g.202514860A>GCA763445963BMPR2c.530-28A>G (n.530-28A>G)
c.461-28A>G (n.461-28A>G)
 dbSNP gnomAD v4
2g.202514862T>GCA763445964BMPR2c.530-26T>G (n.530-26T>G)
c.461-26T>G (n.461-26T>G)
 dbSNP
2g.202514862T=CA1321537823BMPR2c.530-26T= (n.530-26T=)
c.461-26T= (n.461-26T=)
2g.202514864G>CCA538970636BMPR2c.530-24G>C (n.530-24G>C)
c.461-24G>C (n.461-24G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.202514864G=CA1321537824BMPR2c.530-24G= (n.530-24G=)
c.461-24G= (n.461-24G=)
2g.202514864G>TCA1041339655BMPR2c.530-24G>T (n.530-24G>T)
c.461-24G>T (n.461-24G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.202514865T>GCA763445965BMPR2c.530-23T>G (n.530-23T>G)
c.461-23T>G (n.461-23T>G)
 dbSNP
2g.202514865T=CA1321537825BMPR2c.530-23T= (n.530-23T=)
c.461-23T= (n.461-23T=)
2g.202514867delCA2577215567BMPR2c.530-21del (n.530-21del)
c.461-21del (n.461-21del)
2g.202514869C>ACA2662705502BMPR2c.530-19C>A (n.530-19C>A)
c.461-19C>A (n.461-19C>A)
 gnomAD v4
2g.202514869C=CA1321537826BMPR2c.530-19C= (n.530-19C=)
c.461-19C= (n.461-19C=)
2g.202514869C>TCA2061142BMPR2c.530-19C>T (n.530-19C>T)
c.461-19C>T (n.461-19C>T)
 dbSNP ExAC gnomAD v2
2g.202514869_202514870delinsCTCA1321537827BMPR2c.530-19_530-18delinsCT (n.530-19_530-18delinsCT)
c.461-19_461-18delinsCT (n.461-19_461-18delinsCT)
2g.202514870delCA538970637BMPR2c.530-18del (n.530-18del)
c.461-18del (n.461-18del)
 dbSNP gnomAD v2 gnomAD v4
2g.202514870T>GCA2662705503BMPR2c.530-18T>G (n.530-18T>G)
c.461-18T>G (n.461-18T>G)
 gnomAD v4
2g.202514871G>TCA2577215568BMPR2c.530-17G>T (n.530-17G>T)
c.461-17G>T (n.461-17G>T)
2g.202514871_202514872delinsGTCA1321537828BMPR2c.530-17_530-16delinsGT (n.530-17_530-16delinsGT)
c.461-17_461-16delinsGT (n.461-17_461-16delinsGT)
2g.202514874delCA763445980BMPR2c.530-14del (n.530-14del)
c.461-14del (n.461-14del)
 dbSNP gnomAD v3 gnomAD v4
2g.202514873T>GCA2577215569BMPR2c.530-15T>G (n.530-15T>G)
c.461-15T>G (n.461-15T>G)
 gnomAD v4
2g.202514874T>ACA538970642BMPR2c.530-14T>A (n.530-14T>A)
c.461-14T>A (n.461-14T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202514874T>CCA2061143BMPR2c.530-14T>C (n.530-14T>C)
c.461-14T>C (n.461-14T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514874T=CA1321537829BMPR2c.530-14T= (n.530-14T=)
c.461-14T= (n.461-14T=)
2g.202514875C>ACA538970648BMPR2c.530-13C>A (n.530-13C>A)
c.461-13C>A (n.461-13C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202514875C=CA1321537830BMPR2c.530-13C= (n.530-13C=)
c.461-13C= (n.461-13C=)
2g.202514878G>ACA763445998BMPR2c.530-10G>A (n.530-10G>A)
c.461-10G>A (n.461-10G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.202514878G=CA1321537831BMPR2c.530-10G= (n.530-10G=)
c.461-10G= (n.461-10G=)
2g.202514880T>ACA1321537833BMPR2c.530-8T>A (n.530-8T>A)
c.461-8T>A (n.461-8T>A)
 dbSNP
2g.202514880T=CA1321537832BMPR2c.530-8T= (n.530-8T=)
c.461-8T= (n.461-8T=)
2g.202514881C>ACA64012780BMPR2c.530-7C>A (n.530-7C>A)
c.461-7C>A (n.461-7C>A)
 dbSNP
2g.202514881C=CA1321537834BMPR2c.530-7C= (n.530-7C=)
c.461-7C= (n.461-7C=)
2g.202514881C>TCA2061144BMPR2c.530-7C>T (n.530-7C>T)
c.461-7C>T (n.461-7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202514882T>CCA2701465434BMPR2c.530-6T>C (n.530-6T>C)
c.461-6T>C (n.461-6T>C)
 dbSNP
2g.202514882_202514883delCA2662705504BMPR2c.530-6_530-5del (n.530-6_530-5del)
c.461-6_461-5del (n.461-6_461-5del)
 gnomAD v4
2g.202514884A=CA1321537835BMPR2c.530-4A= (n.530-4A=)
c.461-4A= (n.461-4A=)
2g.202514884A>CCA2577215571BMPR2c.530-4A>C (n.530-4A>C)
c.461-4A>C (n.461-4A>C)
2g.202514884A>GCA64012781BMPR2c.530-4A>G (n.530-4A>G)
c.461-4A>G (n.461-4A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.202514884dupCA2577215570BMPR2c.530-4dup (n.530-4dup)
c.461-4dup (n.461-4dup)
2g.202514885T>CCA763446004BMPR2c.530-3T>C (n.530-3T>C)
c.461-3T>C (n.461-3T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.202514885T=CA1321537836BMPR2c.530-3T= (n.530-3T=)
c.461-3T= (n.461-3T=)
2g.202514886A>CCA350338618BMPR2c.530-2A>C (n.530-2A>C)
c.461-2A>C (n.461-2A>C)
2g.202514886A>GCA350338620BMPR2c.530-2A>G (n.530-2A>G)
c.461-2A>G (n.461-2A>G)
 ClinVar dbSNP
2g.202514886A>TCA350338623BMPR2c.530-2A>T (n.530-2A>T)
c.461-2A>T (n.461-2A>T)
 COSMIC
2g.202514886_202514887insCTGTCA2662705505BMPR2c.530-2_530-1insCTGT (n.530-2_530-1insCTGT)
c.461-2_461-1insCTGT (n.461-2_461-1insCTGT)
 gnomAD v4
2g.202514887G>ACA350338627BMPR2c.530-1G>A (n.530-1G>A)
c.461-1G>A (n.461-1G>A)
2g.202514887G>CCA350338628BMPR2c.530-1G>C (n.530-1G>C)
c.461-1G>C (n.461-1G>C)
2g.202514887G>TCA350338629BMPR2c.530-1G>T (n.530-1G>T)
c.461-1G>T (n.461-1G>T)
2g.202514888G>ACA350338638BMPR2c.530G>A (p.Gly177Glu)
c.461G>A (p.Gly154Glu)
 gnomAD v4
2g.202514888G>CCA350338633BMPR2c.530G>C (p.Gly177Ala)
c.461G>C (p.Gly154Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.202514888G=CA1321537837BMPR2c.530G= (p.Gly177=)
c.461G= (p.Gly154=)
2g.202514888G>TCA350338636BMPR2c.530G>T (p.Gly177Val)
c.461G>T (p.Gly154Val)
2g.202514889A=CA1321537838BMPR2c.531A= (p.Gly177=)
c.462A= (p.Gly154=)
2g.202514889A>CCA430838524BMPR2c.531A>C (p.Gly177=)
c.462A>C (p.Gly154=)
2g.202514889A>GCA430838525BMPR2c.531A>G (p.Gly177=)
c.462A>G (p.Gly154=)
 dbSNP gnomAD v2 gnomAD v4
2g.202514889A>TCA430838526BMPR2c.531A>T (p.Gly177=)
c.462A>T (p.Gly154=)
2g.202514890G>ACA350338641BMPR2c.532G>A (p.Asp178Asn)
c.463G>A (p.Asp155Asn)
 dbSNP gnomAD v2
2g.202514890G>CCA350338644BMPR2c.532G>C (p.Asp178His)
c.463G>C (p.Asp155His)
2g.202514890G=CA1321537839BMPR2c.532G= (p.Asp178=)
c.463G= (p.Asp155=)
2g.202514890G>TCA350338646BMPR2c.532G>T (p.Asp178Tyr)
c.463G>T (p.Asp155Tyr)
2g.202514891_202514894dupCA915941639BMPR2c.533_536dup (p.Lys180ProfsTer2)
c.464_467dup (p.Lys157ProfsTer2)
 ClinVar dbSNP
2g.202514891A>CCA350338649BMPR2c.533A>C (p.Asp178Ala)
c.464A>C (p.Asp155Ala)
2g.202514891A>GCA350338652BMPR2c.533A>G (p.Asp178Gly)
c.464A>G (p.Asp155Gly)
2g.202514891A>TCA350338654BMPR2c.533A>T (p.Asp178Val)
c.464A>T (p.Asp155Val)
2g.202514892C>ACA350338659BMPR2c.534C>A (p.Asp178Glu)
c.465C>A (p.Asp155Glu)
2g.202514892C>GCA350338656BMPR2c.534C>G (p.Asp178Glu)
c.465C>G (p.Asp155Glu)
2g.202514892C>TCA430838530BMPR2c.534C>T (p.Asp178=)
c.465C>T (p.Asp155=)
2g.202514893C>ACA350338661BMPR2c.535C>A (p.Arg179Ser)
c.466C>A (p.Arg156Ser)
2g.202514893C>GCA350338664BMPR2c.535C>G (p.Arg179Gly)
c.466C>G (p.Arg156Gly)
2g.202514893C>TCA350338667BMPR2c.535C>T (p.Arg179Cys)
c.466C>T (p.Arg156Cys)
 gnomAD v4 COSMIC
2g.202514894G>ACA2061145BMPR2c.536G>A (p.Arg179His)
c.467G>A (p.Arg156His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.202514894G>CCA350338671BMPR2c.536G>C (p.Arg179Pro)
c.467G>C (p.Arg156Pro)
 gnomAD v4
2g.202514894G=CA1321537840BMPR2c.536G= (p.Arg179=)
c.467G= (p.Arg156=)
2g.202514894G>TCA350338673BMPR2c.536G>T (p.Arg179Leu)
c.467G>T (p.Arg156Leu)
2g.202514895T>ACA430838534BMPR2c.537T>A (p.Arg179=)
c.468T>A (p.Arg156=)
2g.202514895T>CCA430838533BMPR2c.537T>C (p.Arg179=)
c.468T>C (p.Arg156=)
 gnomAD v4
2g.202514895T>GCA430838532BMPR2c.537T>G (p.Arg179=)
c.468T>G (p.Arg156=)
2g.202514896A=CA1321537841BMPR2c.538A= (p.Lys180=)
c.469A= (p.Lys157=)
2g.202514896A>CCA2061146BMPR2c.538A>C (p.Lys180Gln)
c.469A>C (p.Lys157Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202514896A>GCA350338677BMPR2c.538A>G (p.Lys180Glu)
c.469A>G (p.Lys157Glu)
2g.202514896A>TCA350338680BMPR2c.538A>T (p.Lys180Ter)
c.469A>T (p.Lys157Ter)
2g.202514897A=CA1321537842BMPR2c.539A= (p.Lys180=)
c.470A= (p.Lys157=)
2g.202514897A>CCA350338685BMPR2c.539A>C (p.Lys180Thr)
c.470A>C (p.Lys157Thr)
2g.202514897A>GCA350338686BMPR2c.539A>G (p.Lys180Arg)
c.470A>G (p.Lys157Arg)
2g.202514897A>TCA350338688BMPR2c.539A>T (p.Lys180Ile)
c.470A>T (p.Lys157Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.202514898A=CA1321537843BMPR2c.540A= (p.Lys180=)
c.471A= (p.Lys157=)
2g.202514898A>CCA350338691BMPR2c.540A>C (p.Lys180Asn)
c.471A>C (p.Lys157Asn)
2g.202514898A>GCA430838535BMPR2c.540A>G (p.Lys180=)
c.471A>G (p.Lys157=)
 dbSNP gnomAD v3 gnomAD v4
2g.202514898A>TCA350338694BMPR2c.540A>T (p.Lys180Asn)
c.471A>T (p.Lys157Asn)
2g.202514899C>ACA350338696BMPR2c.541C>A (p.Gln181Lys)
c.472C>A (p.Gln158Lys)
 COSMIC
2g.202514899C=CA1321537844BMPR2c.541C= (p.Gln181=)
c.472C= (p.Gln158=)
2g.202514899C>GCA350338698BMPR2c.541C>G (p.Gln181Glu)
c.472C>G (p.Gln158Glu)
2g.202514899C>TCA350338700BMPR2c.541C>T (p.Gln181Ter)
c.472C>T (p.Gln158Ter)
 ClinVar dbSNP
2g.202514900A=CA1321537845BMPR2c.542A= (p.Gln181=)
c.473A= (p.Gln158=)
2g.202514900A>CCA350338702BMPR2c.542A>C (p.Gln181Pro)
c.473A>C (p.Gln158Pro)
2g.202514900A>GCA350338705BMPR2c.542A>G (p.Gln181Arg)
c.473A>G (p.Gln158Arg)
 dbSNP gnomAD v4
2g.202514900A>TCA350338708BMPR2c.542A>T (p.Gln181Leu)
c.473A>T (p.Gln158Leu)
2g.202514901A>CCA350338712BMPR2c.543A>C (p.Gln181His)
c.474A>C (p.Gln158His)
2g.202514901A>GCA430838539BMPR2c.543A>G (p.Gln181=)
c.474A>G (p.Gln158=)
2g.202514901A>TCA350338715BMPR2c.543A>T (p.Gln181His)
c.474A>T (p.Gln158His)
2g.202514901_202514902delCA2586971004BMPR2c.543_544del (p.Gly182SerfsTer17)
c.474_475del (p.Gly159SerfsTer17)
2g.202514902G>ACA350338723BMPR2c.544G>A (p.Gly182Ser)
c.475G>A (p.Gly159Ser)
 dbSNP gnomAD v4
2g.202514902G>CCA350338719BMPR2c.544G>C (p.Gly182Arg)
c.475G>C (p.Gly159Arg)
2g.202514902G=CA1321537846BMPR2c.544G= (p.Gly182=)
c.475G= (p.Gly159=)
2g.202514902G>TCA350338720BMPR2c.544G>T (p.Gly182Cys)
c.475G>T (p.Gly159Cys)
2g.202514903G>ACA119936BMPR2c.545G>A (p.Gly182Asp)
c.476G>A (p.Gly159Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514903G>CCA350338728BMPR2c.545G>C (p.Gly182Ala)
c.476G>C (p.Gly159Ala)
2g.202514903G=CA1321537847BMPR2c.545G= (p.Gly182=)
c.476G= (p.Gly159=)
2g.202514903G>TCA350338730BMPR2c.545G>T (p.Gly182Val)
c.476G>T (p.Gly159Val)
2g.202514904T>ACA430838542BMPR2c.546T>A (p.Gly182=)
c.477T>A (p.Gly159=)
2g.202514904T>CCA430838543BMPR2c.546T>C (p.Gly182=)
c.477T>C (p.Gly159=)
2g.202514904T>GCA430838544BMPR2c.546T>G (p.Gly182=)
c.477T>G (p.Gly159=)
2g.202514905C>ACA350338733BMPR2c.547C>A (p.Leu183Ile)
c.478C>A (p.Leu160Ile)
2g.202514905C=CA1321537848BMPR2c.547C= (p.Leu183=)
c.478C= (p.Leu160=)
2g.202514905C>GCA350338736BMPR2c.547C>G (p.Leu183Val)
c.478C>G (p.Leu160Val)
 dbSNP gnomAD v3 gnomAD v4
2g.202514905C>TCA350338738BMPR2c.547C>T (p.Leu183Phe)
c.478C>T (p.Leu160Phe)
2g.202514906T>ACA350338743BMPR2c.548T>A (p.Leu183His)
c.479T>A (p.Leu160His)
2g.202514906T>CCA350338744BMPR2c.548T>C (p.Leu183Pro)
c.479T>C (p.Leu160Pro)
2g.202514906T>GCA350338746BMPR2c.548T>G (p.Leu183Arg)
c.479T>G (p.Leu160Arg)
2g.202514907T>ACA430838547BMPR2c.549T>A (p.Leu183=)
c.480T>A (p.Leu160=)
2g.202514907T>CCA2061147BMPR2c.549T>C (p.Leu183=)
c.480T>C (p.Leu160=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514907T>GCA430838548BMPR2c.549T>G (p.Leu183=)
c.480T>G (p.Leu160=)
2g.202514907T=CA1321537849BMPR2c.549T= (p.Leu183=)
c.480T= (p.Leu160=)
2g.202514908C>ACA350338751BMPR2c.550C>A (p.His184Asn)
c.481C>A (p.His161Asn)
2g.202514908C=CA1321537851BMPR2c.550C= (p.His184=)
c.481C= (p.His161=)
2g.202514908C>GCA350338754BMPR2c.550C>G (p.His184Asp)
c.481C>G (p.His161Asp)
2g.202514908C>TCA350338757BMPR2c.550C>T (p.His184Tyr)
c.481C>T (p.His161Tyr)
 dbSNP
2g.202514908_202514931delinsCACAGTATGAACATGATGGAGGCACA1321537850BMPR2c.550_573delinsCACAGTATGAACATGATGGAGGCA (p.His184=)
c.481_504delinsCACAGTATGAACATGATGGAGGCA (p.His161=)

Number of alleles fetched