Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202461237_202467808delCA915941492BMPR2c.77-3572_418+119del
 ClinVar
2g.202462494_202466873delCA915941493BMPR2c.77-2315_248-646del
 ClinVar
2g.202464829C>ACA350399025BMPR2c.97C>A (p.Leu33Ile)
c.22C>A (p.Leu8Ile)
n.4C>A
 gnomAD v4
2g.202464829C=CA1321507522BMPR2c.97C= (p.Leu33=)
c.22C= (p.Leu8=)
n.4C=
2g.202464829C>GCA350399027BMPR2c.97C>G (p.Leu33Val)
c.22C>G (p.Leu8Val)
n.4C>G
2g.202464829C>TCA430903577BMPR2c.97C>T (p.Leu33=)
c.22C>T (p.Leu8=)
n.4C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202464830T>ACA350399030BMPR2c.98T>A (p.Leu33Gln)
c.23T>A (p.Leu8Gln)
n.5T>A
2g.202464830T>CCA350399031BMPR2c.98T>C (p.Leu33Pro)
c.23T>C (p.Leu8Pro)
n.5T>C
2g.202464830T>GCA350399034BMPR2c.98T>G (p.Leu33Arg)
c.23T>G (p.Leu8Arg)
n.5T>G
2g.202464831A=CA1321507525BMPR2c.99A= (p.Leu33=)
c.24A= (p.Leu8=)
n.6A=
2g.202464831A>CCA430903578BMPR2c.99A>C (p.Leu33=)
c.24A>C (p.Leu8=)
n.6A>C
2g.202464831A>GCA430903579BMPR2c.99A>G (p.Leu33=)
c.24A>G (p.Leu8=)
n.6A>G
 dbSNP gnomAD v4
2g.202464831A>TCA430903580BMPR2c.99A>T (p.Leu33=)
c.24A>T (p.Leu8=)
n.6A>T
 ClinVar gnomAD v4
2g.202464832T>ACA350399038BMPR2c.100T>A (p.Cys34Ser)
c.25T>A (p.Cys9Ser)
n.7T>A
2g.202464832T>CCA350399040BMPR2c.100T>C (p.Cys34Arg)
c.25T>C (p.Cys9Arg)
n.7T>C
 ClinVar dbSNP
2g.202464832T>GCA350399036BMPR2c.100T>G (p.Cys34Gly)
c.25T>G (p.Cys9Gly)
n.7T>G
2g.202464832T=CA1321507526BMPR2c.100T= (p.Cys34=)
c.25T= (p.Cys9=)
n.7T=
2g.202464833G>ACA350399043BMPR2c.101G>A (p.Cys34Tyr)
c.26G>A (p.Cys9Tyr)
n.8G>A
2g.202464833G>CCA350399045BMPR2c.101G>C (p.Cys34Ser)
c.26G>C (p.Cys9Ser)
n.8G>C
2g.202464833G=CA1321507527BMPR2c.101G= (p.Cys34=)
c.26G= (p.Cys9=)
n.8G=
2g.202464833G>TCA350399046BMPR2c.101G>T (p.Cys34Phe)
c.26G>T (p.Cys9Phe)
n.8G>T
2g.202464834T>ACA350399049BMPR2c.102T>A (p.Cys34Ter)
c.27T>A (p.Cys9Ter)
n.9T>A
2g.202464834T>CCA430903581BMPR2c.102T>C (p.Cys34=)
c.27T>C (p.Cys9=)
n.9T>C
2g.202464834T>GCA350399051BMPR2c.102T>G (p.Cys34Trp)
c.27T>G (p.Cys9Trp)
n.9T>G
2g.202464834dupCA1321507528BMPR2c.102dup (p.Ala35CysfsTer3)
c.27dup (p.Ala10CysfsTer3)
n.9dup
 dbSNP
2g.202464834_202464835delinsTGCA1321507529BMPR2c.102_103delinsTG (p.Cys34=)
c.27_28delinsTG (p.Cys9=)
n.9_10delinsTG
2g.202464835delCA645293989BMPR2c.103del (p.Ala35ArgfsTer12)
c.28del (p.Ala10ArgfsTer12)
n.10del
 ClinVar dbSNP
2g.202464835G>ACA350399053BMPR2c.103G>A (p.Ala35Thr)
c.28G>A (p.Ala10Thr)
n.10G>A
 dbSNP
2g.202464835G>CCA350399055BMPR2c.103G>C (p.Ala35Pro)
c.28G>C (p.Ala10Pro)
n.10G>C
2g.202464835G=CA1321507531BMPR2c.103G= (p.Ala35=)
c.28G= (p.Ala10=)
n.10G=
2g.202464835G>TCA350399057BMPR2c.103G>T (p.Ala35Ser)
c.28G>T (p.Ala10Ser)
n.10G>T
2g.202464836C>ACA350399060BMPR2c.104C>A (p.Ala35Glu)
c.29C>A (p.Ala10Glu)
n.11C>A
2g.202464836C=CA1321507532BMPR2c.104C= (p.Ala35=)
c.29C= (p.Ala10=)
n.11C=
2g.202464836C>GCA350399061BMPR2c.104C>G (p.Ala35Gly)
c.29C>G (p.Ala10Gly)
n.11C>G
2g.202464836C>TCA64532180BMPR2c.104C>T (p.Ala35Val)
c.29C>T (p.Ala10Val)
n.11C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.202464837G>ACA2061038BMPR2c.105G>A (p.Ala35=)
c.30G>A (p.Ala10=)
n.12G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202464837G>CCA430903584BMPR2c.105G>C (p.Ala35=)
c.30G>C (p.Ala10=)
n.12G>C
2g.202464837G=CA1321507534BMPR2c.105G= (p.Ala35=)
c.30G= (p.Ala10=)
n.12G=
2g.202464837G>TCA430903585BMPR2c.105G>T (p.Ala35=)
c.30G>T (p.Ala10=)
n.12G>T
2g.202464838T>ACA350399068BMPR2c.106T>A (p.Phe36Ile)
c.31T>A (p.Phe11Ile)
n.13T>A
2g.202464838T>CCA350399070BMPR2c.106T>C (p.Phe36Leu)
c.31T>C (p.Phe11Leu)
n.13T>C
2g.202464838T>GCA350399066BMPR2c.106T>G (p.Phe36Val)
c.31T>G (p.Phe11Val)
n.13T>G
2g.202464839T>ACA350399072BMPR2c.107T>A (p.Phe36Tyr)
c.32T>A (p.Phe11Tyr)
n.14T>A
2g.202464839T>CCA350399074BMPR2c.107T>C (p.Phe36Ser)
c.32T>C (p.Phe11Ser)
n.14T>C
2g.202464839T>GCA350399075BMPR2c.107T>G (p.Phe36Cys)
c.32T>G (p.Phe11Cys)
n.14T>G
2g.202464840T>ACA350399078BMPR2c.108T>A (p.Phe36Leu)
c.33T>A (p.Phe11Leu)
n.15T>A
 gnomAD v4
2g.202464840T>CCA430903587BMPR2c.108T>C (p.Phe36=)
c.33T>C (p.Phe11=)
n.15T>C
2g.202464840T>GCA350399080BMPR2c.108T>G (p.Phe36Leu)
c.33T>G (p.Phe11Leu)
n.15T>G
2g.202464841A>CCA350399086BMPR2c.109A>C (p.Lys37Gln)
c.34A>C (p.Lys12Gln)
n.16A>C
2g.202464841A>GCA350399082BMPR2c.109A>G (p.Lys37Glu)
c.34A>G (p.Lys12Glu)
n.16A>G

Number of alleles fetched