Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202515407_202524196delCA915941641BMPR2c.621+428_967+3995del
c.552+428_898+3995del
 ClinVar
2g.202519368_202523159delCA915941649BMPR2c.852+316_967+2958del
c.783+316_898+2958del
 ClinVar
2g.202520099_202520110delCA2586965543BMPR2c.865_876del (p.Lys289_Ser292del)
c.796_807del (p.Lys266_Ser269del)
2g.202520106dupCA2586965544BMPR2c.872dup (p.Leu291PhefsTer7)
c.803dup (p.Leu268PhefsTer7)
2g.202520105_202520106dupCA2739279435BMPR2c.871_872dup (p.Leu291PhefsTer2)
c.802_803dup (p.Leu268PhefsTer2)
 ClinVar
2g.202520106delCA645293966BMPR2c.872del (p.Leu291Ter)
c.803del (p.Leu268Ter)
 ClinVar dbSNP
2g.202520105T>ACA350340715BMPR2c.871T>A (p.Leu291Ile)
c.802T>A (p.Leu268Ile)
2g.202520105T>CCA430840386BMPR2c.871T>C (p.Leu291=)
c.802T>C (p.Leu268=)
2g.202520105T>GCA350340716BMPR2c.871T>G (p.Leu291Val)
c.802T>G (p.Leu268Val)
2g.202520106T>ACA350340717BMPR2c.872T>A (p.Leu291Ter)
c.803T>A (p.Leu268Ter)
2g.202520106T>CCA350340718BMPR2c.872T>C (p.Leu291Ser)
c.803T>C (p.Leu268Ser)
2g.202520106T>GCA350340719BMPR2c.872T>G (p.Leu291Ter)
c.803T>G (p.Leu268Ter)
 ClinVar dbSNP
2g.202520106T=CA1321540220BMPR2c.872T= (p.Leu291=)
c.803T= (p.Leu268=)
2g.202520107A>CCA350340720BMPR2c.873A>C (p.Leu291Phe)
c.804A>C (p.Leu268Phe)
2g.202520107A>GCA430840388BMPR2c.873A>G (p.Leu291=)
c.804A>G (p.Leu268=)
2g.202520107A>TCA350340721BMPR2c.873A>T (p.Leu291Phe)
c.804A>T (p.Leu268Phe)
2g.202520108A=CA1321540221BMPR2c.874A= (p.Ser292=)
c.805A= (p.Ser269=)
2g.202520108A>CCA350340722BMPR2c.874A>C (p.Ser292Arg)
c.805A>C (p.Ser269Arg)
2g.202520108A>GCA350340723BMPR2c.874A>G (p.Ser292Gly)
c.805A>G (p.Ser269Gly)
 dbSNP
2g.202520108A>TCA350340724BMPR2c.874A>T (p.Ser292Cys)
c.805A>T (p.Ser269Cys)
2g.202520109G>ACA350340725BMPR2c.875G>A (p.Ser292Asn)
c.806G>A (p.Ser269Asn)
2g.202520109G>CCA350340726BMPR2c.875G>C (p.Ser292Thr)
c.806G>C (p.Ser269Thr)
2g.202520109G>TCA350340727BMPR2c.875G>T (p.Ser292Ile)
c.806G>T (p.Ser269Ile)
 gnomAD v3 gnomAD v4
2g.202520110T>ACA350340728BMPR2c.876T>A (p.Ser292Arg)
c.807T>A (p.Ser269Arg)
2g.202520110T>CCA430840394BMPR2c.876T>C (p.Ser292=)
c.807T>C (p.Ser269=)
2g.202520110T>GCA350340729BMPR2c.876T>G (p.Ser292Arg)
c.807T>G (p.Ser269Arg)
 gnomAD v4
2g.202520111C>ACA350340730BMPR2c.877C>A (p.Leu293Ile)
c.808C>A (p.Leu270Ile)
2g.202520111C=CA1321540222BMPR2c.877C= (p.Leu293=)
c.808C= (p.Leu270=)
2g.202520111C>GCA350340731BMPR2c.877C>G (p.Leu293Val)
c.808C>G (p.Leu270Val)
 gnomAD v4
2g.202520111C>TCA350340732BMPR2c.877C>T (p.Leu293Phe)
c.808C>T (p.Leu270Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202520112T>ACA350340733BMPR2c.878T>A (p.Leu293His)
c.809T>A (p.Leu270His)
2g.202520112T>CCA350340734BMPR2c.878T>C (p.Leu293Pro)
c.809T>C (p.Leu270Pro)
 gnomAD v4
2g.202520112T>GCA350340735BMPR2c.878T>G (p.Leu293Arg)
c.809T>G (p.Leu270Arg)
2g.202520113C>ACA430840396BMPR2c.879C>A (p.Leu293=)
c.810C>A (p.Leu270=)
2g.202520113C>GCA430840397BMPR2c.879C>G (p.Leu293=)
c.810C>G (p.Leu270=)
2g.202520113C>TCA430840398BMPR2c.879C>T (p.Leu293=)
c.810C>T (p.Leu270=)
2g.202520114C>ACA350340736BMPR2c.880C>A (p.His294Asn)
c.811C>A (p.His271Asn)
2g.202520114C>GCA350340737BMPR2c.880C>G (p.His294Asp)
c.811C>G (p.His271Asp)
2g.202520114C>TCA350340738BMPR2c.880C>T (p.His294Tyr)
c.811C>T (p.His271Tyr)
 gnomAD v4
2g.202520115A>CCA350340739BMPR2c.881A>C (p.His294Pro)
c.812A>C (p.His271Pro)
2g.202520115A>GCA350340740BMPR2c.881A>G (p.His294Arg)
c.812A>G (p.His271Arg)
2g.202520115A>TCA350340741BMPR2c.881A>T (p.His294Leu)
c.812A>T (p.His271Leu)
2g.202520116C>ACA350340742BMPR2c.882C>A (p.His294Gln)
c.813C>A (p.His271Gln)
2g.202520116C>GCA350340743BMPR2c.882C>G (p.His294Gln)
c.813C>G (p.His271Gln)
2g.202520116C>TCA430840402BMPR2c.882C>T (p.His294=)
c.813C>T (p.His271=)
 dbSNP
2g.202520117A=CA1321540223BMPR2c.883A= (p.Thr295=)
c.814A= (p.Thr272=)
2g.202520117A>CCA64016719BMPR2c.883A>C (p.Thr295Pro)
c.814A>C (p.Thr272Pro)
 dbSNP gnomAD v4
2g.202520117A>GCA350340744BMPR2c.883A>G (p.Thr295Ala)
c.814A>G (p.Thr272Ala)
2g.202520117A>TCA350340745BMPR2c.883A>T (p.Thr295Ser)
c.814A>T (p.Thr272Ser)
2g.202520118C>ACA350340746BMPR2c.884C>A (p.Thr295Lys)
c.815C>A (p.Thr272Lys)
 dbSNP

Number of alleles fetched