Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202461237_202467808del | CA915941492 | BMPR2 | c.77-3572_418+119del | ClinVar |
2 | g.202462494_202466873del | CA915941493 | BMPR2 | c.77-2315_248-646del | ClinVar |
2 | g.202464822A>C | CA350398998 | BMPR2 | c.90A>C (p.Gln30His) c.15A>C (p.Gln5His) | |
2 | g.202464822A>G | CA430903570 | BMPR2 | c.90A>G (p.Gln30=) c.15A>G (p.Gln5=) | |
2 | g.202464822A>T | CA350398999 | BMPR2 | c.90A>T (p.Gln30His) c.15A>T (p.Gln5His) | gnomAD v4 |
2 | g.202464823G>A | CA350399001 | BMPR2 | c.91G>A (p.Glu31Lys) c.16G>A (p.Glu6Lys) | dbSNP gnomAD v4 |
2 | g.202464823G>C | CA350399003 | BMPR2 | c.91G>C (p.Glu31Gln) c.16G>C (p.Glu6Gln) | |
2 | g.202464823G= | CA1321507494 | BMPR2 | c.91G= (p.Glu31=) c.16G= (p.Glu6=) | |
2 | g.202464823G>T | CA350399005 | BMPR2 | c.91G>T (p.Glu31Ter) c.16G>T (p.Glu6Ter) | ClinVar dbSNP |
2 | g.202464824A= | CA1321507501 | BMPR2 | c.92A= (p.Glu31=) c.17A= (p.Glu6=) | |
2 | g.202464824A>C | CA350399011 | BMPR2 | c.92A>C (p.Glu31Ala) c.17A>C (p.Glu6Ala) | |
2 | g.202464824A>G | CA350399009 | BMPR2 | c.92A>G (p.Glu31Gly) c.17A>G (p.Glu6Gly) | dbSNP |
2 | g.202464824A>T | CA350399007 | BMPR2 | c.92A>T (p.Glu31Val) c.17A>T (p.Glu6Val) | |
2 | g.202464825A= | CA1321507503 | BMPR2 | c.93A= (p.Glu31=) c.18A= (p.Glu6=) | |
2 | g.202464825A>C | CA350399012 | BMPR2 | c.93A>C (p.Glu31Asp) c.18A>C (p.Glu6Asp) | |
2 | g.202464825A>G | CA430903571 | BMPR2 | c.93A>G (p.Glu31=) c.18A>G (p.Glu6=) | |
2 | g.202464825A>T | CA350399014 | BMPR2 | c.93A>T (p.Glu31Asp) c.18A>T (p.Glu6Asp) | |
2 | g.202464825_202464826insT | CA915941494 | BMPR2 | c.93_94insT (p.Arg32SerfsTer6) c.18_19insT (p.Arg7SerfsTer6) n.1-1_1insT | ClinVar dbSNP |
2 | g.202464826C>A | CA430903573 | BMPR2 | c.94C>A (p.Arg32=) c.19C>A (p.Arg7=) n.1C>A | |
2 | g.202464826C= | CA1321507512 | BMPR2 | c.94C= (p.Arg32=) c.19C= (p.Arg7=) n.1C= | |
2 | g.202464826C>G | CA350399016 | BMPR2 | c.94C>G (p.Arg32Gly) c.19C>G (p.Arg7Gly) n.1C>G | |
2 | g.202464826C>T | CA2061036 | BMPR2 | c.94C>T (p.Arg32Trp) c.19C>T (p.Arg7Trp) n.1C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464827G>A | CA2061037 | BMPR2 | c.95G>A (p.Arg32Gln) c.20G>A (p.Arg7Gln) n.2G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464827G>C | CA350399021 | BMPR2 | c.95G>C (p.Arg32Pro) c.20G>C (p.Arg7Pro) n.2G>C | |
2 | g.202464827G= | CA1321507517 | BMPR2 | c.95G= (p.Arg32=) c.20G= (p.Arg7=) n.2G= | |
2 | g.202464827G>T | CA350399023 | BMPR2 | c.95G>T (p.Arg32Leu) c.20G>T (p.Arg7Leu) n.2G>T | |
2 | g.202464828G>A | CA430903574 | BMPR2 | c.96G>A (p.Arg32=) c.21G>A (p.Arg7=) n.3G>A | |
2 | g.202464828G>C | CA430903575 | BMPR2 | c.96G>C (p.Arg32=) c.21G>C (p.Arg7=) n.3G>C | |
2 | g.202464828G>T | CA430903576 | BMPR2 | c.96G>T (p.Arg32=) c.21G>T (p.Arg7=) n.3G>T | |
2 | g.202464829C>A | CA350399025 | BMPR2 | c.97C>A (p.Leu33Ile) c.22C>A (p.Leu8Ile) n.4C>A | gnomAD v4 |
2 | g.202464829C= | CA1321507522 | BMPR2 | c.97C= (p.Leu33=) c.22C= (p.Leu8=) n.4C= | |
2 | g.202464829C>G | CA350399027 | BMPR2 | c.97C>G (p.Leu33Val) c.22C>G (p.Leu8Val) n.4C>G | |
2 | g.202464829C>T | CA430903577 | BMPR2 | c.97C>T (p.Leu33=) c.22C>T (p.Leu8=) n.4C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464830T>A | CA350399030 | BMPR2 | c.98T>A (p.Leu33Gln) c.23T>A (p.Leu8Gln) n.5T>A | |
2 | g.202464830T>C | CA350399031 | BMPR2 | c.98T>C (p.Leu33Pro) c.23T>C (p.Leu8Pro) n.5T>C | |
2 | g.202464830T>G | CA350399034 | BMPR2 | c.98T>G (p.Leu33Arg) c.23T>G (p.Leu8Arg) n.5T>G | |
2 | g.202464831A= | CA1321507525 | BMPR2 | c.99A= (p.Leu33=) c.24A= (p.Leu8=) n.6A= | |
2 | g.202464831A>C | CA430903578 | BMPR2 | c.99A>C (p.Leu33=) c.24A>C (p.Leu8=) n.6A>C | |
2 | g.202464831A>G | CA430903579 | BMPR2 | c.99A>G (p.Leu33=) c.24A>G (p.Leu8=) n.6A>G | dbSNP gnomAD v4 |
2 | g.202464831A>T | CA430903580 | BMPR2 | c.99A>T (p.Leu33=) c.24A>T (p.Leu8=) n.6A>T | ClinVar gnomAD v4 |
2 | g.202464832T>A | CA350399038 | BMPR2 | c.100T>A (p.Cys34Ser) c.25T>A (p.Cys9Ser) n.7T>A | |
2 | g.202464832T>C | CA350399040 | BMPR2 | c.100T>C (p.Cys34Arg) c.25T>C (p.Cys9Arg) n.7T>C | ClinVar dbSNP |
2 | g.202464832T>G | CA350399036 | BMPR2 | c.100T>G (p.Cys34Gly) c.25T>G (p.Cys9Gly) n.7T>G | |
2 | g.202464832T= | CA1321507526 | BMPR2 | c.100T= (p.Cys34=) c.25T= (p.Cys9=) n.7T= | |
2 | g.202464833G>A | CA350399043 | BMPR2 | c.101G>A (p.Cys34Tyr) c.26G>A (p.Cys9Tyr) n.8G>A | |
2 | g.202464833G>C | CA350399045 | BMPR2 | c.101G>C (p.Cys34Ser) c.26G>C (p.Cys9Ser) n.8G>C | |
2 | g.202464833G= | CA1321507527 | BMPR2 | c.101G= (p.Cys34=) c.26G= (p.Cys9=) n.8G= | |
2 | g.202464833G>T | CA350399046 | BMPR2 | c.101G>T (p.Cys34Phe) c.26G>T (p.Cys9Phe) n.8G>T | |
2 | g.202464834T>A | CA350399049 | BMPR2 | c.102T>A (p.Cys34Ter) c.27T>A (p.Cys9Ter) n.9T>A | |
2 | g.202464834T>C | CA430903581 | BMPR2 | c.102T>C (p.Cys34=) c.27T>C (p.Cys9=) n.9T>C | |
2 | g.202464834T>G | CA350399051 | BMPR2 | c.102T>G (p.Cys34Trp) c.27T>G (p.Cys9Trp) n.9T>G | |
2 | g.202464834dup | CA1321507528 | BMPR2 | c.102dup (p.Ala35CysfsTer3) c.27dup (p.Ala10CysfsTer3) n.9dup | dbSNP |
2 | g.202464834_202464835delinsTG | CA1321507529 | BMPR2 | c.102_103delinsTG (p.Cys34=) c.27_28delinsTG (p.Cys9=) n.9_10delinsTG | |
2 | g.202464835del | CA645293989 | BMPR2 | c.103del (p.Ala35ArgfsTer12) c.28del (p.Ala10ArgfsTer12) n.10del | ClinVar dbSNP |
2 | g.202464835G>A | CA350399053 | BMPR2 | c.103G>A (p.Ala35Thr) c.28G>A (p.Ala10Thr) n.10G>A | dbSNP |
2 | g.202464835G>C | CA350399055 | BMPR2 | c.103G>C (p.Ala35Pro) c.28G>C (p.Ala10Pro) n.10G>C | |
2 | g.202464835G= | CA1321507531 | BMPR2 | c.103G= (p.Ala35=) c.28G= (p.Ala10=) n.10G= | |
2 | g.202464835G>T | CA350399057 | BMPR2 | c.103G>T (p.Ala35Ser) c.28G>T (p.Ala10Ser) n.10G>T | |
2 | g.202464836C>A | CA350399060 | BMPR2 | c.104C>A (p.Ala35Glu) c.29C>A (p.Ala10Glu) n.11C>A | |
2 | g.202464836C= | CA1321507532 | BMPR2 | c.104C= (p.Ala35=) c.29C= (p.Ala10=) n.11C= | |
2 | g.202464836C>G | CA350399061 | BMPR2 | c.104C>G (p.Ala35Gly) c.29C>G (p.Ala10Gly) n.11C>G | |
2 | g.202464836C>T | CA64532180 | BMPR2 | c.104C>T (p.Ala35Val) c.29C>T (p.Ala10Val) n.11C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.202464837G>A | CA2061038 | BMPR2 | c.105G>A (p.Ala35=) c.30G>A (p.Ala10=) n.12G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464837G>C | CA430903584 | BMPR2 | c.105G>C (p.Ala35=) c.30G>C (p.Ala10=) n.12G>C | |
2 | g.202464837G= | CA1321507534 | BMPR2 | c.105G= (p.Ala35=) c.30G= (p.Ala10=) n.12G= | |
2 | g.202464837G>T | CA430903585 | BMPR2 | c.105G>T (p.Ala35=) c.30G>T (p.Ala10=) n.12G>T | |
2 | g.202464838T>A | CA350399068 | BMPR2 | c.106T>A (p.Phe36Ile) c.31T>A (p.Phe11Ile) n.13T>A | |
2 | g.202464838T>C | CA350399070 | BMPR2 | c.106T>C (p.Phe36Leu) c.31T>C (p.Phe11Leu) n.13T>C | |
2 | g.202464838T>G | CA350399066 | BMPR2 | c.106T>G (p.Phe36Val) c.31T>G (p.Phe11Val) n.13T>G | |
2 | g.202464839T>A | CA350399072 | BMPR2 | c.107T>A (p.Phe36Tyr) c.32T>A (p.Phe11Tyr) n.14T>A | |
2 | g.202464839T>C | CA350399074 | BMPR2 | c.107T>C (p.Phe36Ser) c.32T>C (p.Phe11Ser) n.14T>C | |
2 | g.202464839T>G | CA350399075 | BMPR2 | c.107T>G (p.Phe36Cys) c.32T>G (p.Phe11Cys) n.14T>G | |
2 | g.202464840T>A | CA350399078 | BMPR2 | c.108T>A (p.Phe36Leu) c.33T>A (p.Phe11Leu) n.15T>A | gnomAD v4 |
2 | g.202464840T>C | CA430903587 | BMPR2 | c.108T>C (p.Phe36=) c.33T>C (p.Phe11=) n.15T>C | |
2 | g.202464840T>G | CA350399080 | BMPR2 | c.108T>G (p.Phe36Leu) c.33T>G (p.Phe11Leu) n.15T>G | |
2 | g.202464841A>C | CA350399086 | BMPR2 | c.109A>C (p.Lys37Gln) c.34A>C (p.Lys12Gln) n.16A>C | |
2 | g.202464841A>G | CA350399082 | BMPR2 | c.109A>G (p.Lys37Glu) c.34A>G (p.Lys12Glu) n.16A>G | |
2 | g.202464841A>T | CA350399084 | BMPR2 | c.109A>T (p.Lys37Ter) c.34A>T (p.Lys12Ter) n.16A>T | |
2 | g.202464842A>C | CA350399088 | BMPR2 | c.110A>C (p.Lys37Thr) c.35A>C (p.Lys12Thr) n.17A>C | |
2 | g.202464842A>G | CA350399090 | BMPR2 | c.110A>G (p.Lys37Arg) c.35A>G (p.Lys12Arg) n.17A>G | |
2 | g.202464842A>T | CA350399091 | BMPR2 | c.110A>T (p.Lys37Ile) c.35A>T (p.Lys12Ile) n.17A>T | |
2 | g.202464843A= | CA1321507535 | BMPR2 | c.111A= (p.Lys37=) c.36A= (p.Lys12=) n.18A= | |
2 | g.202464843A>C | CA350399094 | BMPR2 | c.111A>C (p.Lys37Asn) c.36A>C (p.Lys12Asn) n.18A>C | |
2 | g.202464843A>G | CA430903588 | BMPR2 | c.111A>G (p.Lys37=) c.36A>G (p.Lys12=) n.18A>G | ClinVar dbSNP |
2 | g.202464843A>T | CA350399096 | BMPR2 | c.111A>T (p.Lys37Asn) c.36A>T (p.Lys12Asn) n.18A>T | |
2 | g.202464844G>A | CA350399098 | BMPR2 | c.112G>A (p.Asp38Asn) c.37G>A (p.Asp13Asn) n.19G>A | gnomAD v4 |
2 | g.202464844G>C | CA350399102 | BMPR2 | c.112G>C (p.Asp38His) c.37G>C (p.Asp13His) n.19G>C | |
2 | g.202464844G>T | CA350399100 | BMPR2 | c.112G>T (p.Asp38Tyr) c.37G>T (p.Asp13Tyr) n.19G>T | |
2 | g.202464845A>C | CA350399104 | BMPR2 | c.113A>C (p.Asp38Ala) c.38A>C (p.Asp13Ala) n.20A>C | |
2 | g.202464845A>G | CA350399108 | BMPR2 | c.113A>G (p.Asp38Gly) c.38A>G (p.Asp13Gly) n.20A>G | |
2 | g.202464845A>T | CA350399106 | BMPR2 | c.113A>T (p.Asp38Val) c.38A>T (p.Asp13Val) n.20A>T | |
2 | g.202464846T>A | CA350399110 | BMPR2 | c.114T>A (p.Asp38Glu) c.39T>A (p.Asp13Glu) n.21T>A | |
2 | g.202464846T>C | CA430903590 | BMPR2 | c.114T>C (p.Asp38=) c.39T>C (p.Asp13=) n.21T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202464846T>G | CA350399112 | BMPR2 | c.114T>G (p.Asp38Glu) c.39T>G (p.Asp13Glu) n.21T>G | |
2 | g.202464846T= | CA1321507540 | BMPR2 | c.114T= (p.Asp38=) c.39T= (p.Asp13=) n.21T= | |
2 | g.202464846_202464847delinsTC | CA1321507539 | BMPR2 | c.114_115delinsTC (p.Asp38=) c.39_40delinsTC (p.Asp13=) n.21_22delinsTC | |
2 | g.202464847C>A | CA350399115 | BMPR2 | c.115C>A (p.Pro39Thr) c.40C>A (p.Pro14Thr) n.22C>A | |
2 | g.202464847C= | CA1321507545 | BMPR2 | c.115C= (p.Pro39=) c.40C= (p.Pro14=) n.22C= | |
2 | g.202464847C>G | CA350399116 | BMPR2 | c.115C>G (p.Pro39Ala) c.40C>G (p.Pro14Ala) n.22C>G | |
2 | g.202464847C>T | CA350399118 | BMPR2 | c.115C>T (p.Pro39Ser) c.40C>T (p.Pro14Ser) n.22C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.202464848del | CA645293990 | BMPR2 | c.116del (p.Pro39ArgfsTer8) c.41del (p.Pro14ArgfsTer8) n.23del | ClinVar dbSNP |
2 | g.202464848C>A | CA350399121 | BMPR2 | c.116C>A (p.Pro39Gln) c.41C>A (p.Pro14Gln) n.23C>A | |
2 | g.202464848C= | CA1321507548 | BMPR2 | c.116C= (p.Pro39=) c.41C= (p.Pro14=) n.23C= | |
2 | g.202464848C>G | CA350399122 | BMPR2 | c.116C>G (p.Pro39Arg) c.41C>G (p.Pro14Arg) n.23C>G | |
2 | g.202464848C>T | CA2061039 | BMPR2 | c.116C>T (p.Pro39Leu) c.41C>T (p.Pro14Leu) n.23C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.202464849del | CA2586965526 | BMPR2 | c.117del (p.Tyr40IlefsTer7) c.42del (p.Tyr15IlefsTer7) n.24del | |
2 | g.202464849G>A | CA2061040 | BMPR2 | c.117G>A (p.Pro39=) c.42G>A (p.Pro14=) n.24G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464849G>C | CA430903593 | BMPR2 | c.117G>C (p.Pro39=) c.42G>C (p.Pro14=) n.24G>C | gnomAD v4 |
2 | g.202464849G= | CA1321507551 | BMPR2 | c.117G= (p.Pro39=) c.42G= (p.Pro14=) n.24G= | |
2 | g.202464849G>T | CA430903594 | BMPR2 | c.117G>T (p.Pro39=) c.42G>T (p.Pro14=) n.24G>T | |
2 | g.202464850T>A | CA350399127 | BMPR2 | c.118T>A (p.Tyr40Asn) c.43T>A (p.Tyr15Asn) n.25T>A | |
2 | g.202464850T>C | CA350399129 | BMPR2 | c.118T>C (p.Tyr40His) c.43T>C (p.Tyr15His) n.25T>C | |
2 | g.202464850T>G | CA350399130 | BMPR2 | c.118T>G (p.Tyr40Asp) c.43T>G (p.Tyr15Asp) n.25T>G | |
2 | g.202464850dup | CA2586965527 | BMPR2 | c.118dup (p.Tyr40LeufsTer9) c.43dup (p.Tyr15LeufsTer9) n.25dup | |
2 | g.202464851A>C | CA350399133 | BMPR2 | c.119A>C (p.Tyr40Ser) c.44A>C (p.Tyr15Ser) n.26A>C | |
2 | g.202464851A>G | CA350399135 | BMPR2 | c.119A>G (p.Tyr40Cys) c.44A>G (p.Tyr15Cys) n.26A>G | |
2 | g.202464851A>T | CA350399136 | BMPR2 | c.119A>T (p.Tyr40Phe) c.44A>T (p.Tyr15Phe) n.26A>T | |
2 | g.202464852T>A | CA350399138 | BMPR2 | c.120T>A (p.Tyr40Ter) c.45T>A (p.Tyr15Ter) n.27T>A | ClinVar dbSNP |
2 | g.202464852T>C | CA430903597 | BMPR2 | c.120T>C (p.Tyr40=) c.45T>C (p.Tyr15=) n.27T>C | |
2 | g.202464852T>G | CA119938 | BMPR2 | c.120T>G (p.Tyr40Ter) c.45T>G (p.Tyr15Ter) n.27T>G | ClinVar dbSNP |
2 | g.202464852T= | CA1321507556 | BMPR2 | c.120T= (p.Tyr40=) c.45T= (p.Tyr15=) n.27T= | |
2 | g.202464853C>A | CA350399141 | BMPR2 | c.121C>A (p.Gln41Lys) c.46C>A (p.Gln16Lys) n.28C>A | |
2 | g.202464853C>G | CA350399143 | BMPR2 | c.121C>G (p.Gln41Glu) c.46C>G (p.Gln16Glu) n.28C>G | |
2 | g.202464853C>T | CA350399145 | BMPR2 | c.121C>T (p.Gln41Ter) c.46C>T (p.Gln16Ter) n.28C>T | COSMIC |
2 | g.202464854A>C | CA350399147 | BMPR2 | c.122A>C (p.Gln41Pro) c.47A>C (p.Gln16Pro) n.29A>C | |
2 | g.202464854A>G | CA350399150 | BMPR2 | c.122A>G (p.Gln41Arg) c.47A>G (p.Gln16Arg) n.29A>G | gnomAD v4 |
2 | g.202464854A>T | CA350399152 | BMPR2 | c.122A>T (p.Gln41Leu) c.47A>T (p.Gln16Leu) n.29A>T | |
2 | g.202464855G>A | CA430903598 | BMPR2 | c.123G>A (p.Gln41=) c.48G>A (p.Gln16=) n.30G>A | gnomAD v4 |
2 | g.202464855G>C | CA350399154 | BMPR2 | c.123G>C (p.Gln41His) c.48G>C (p.Gln16His) n.30G>C | |
2 | g.202464855G>T | CA350399155 | BMPR2 | c.123G>T (p.Gln41His) c.48G>T (p.Gln16His) n.30G>T | dbSNP |
2 | g.202464856C>A | CA350399158 | BMPR2 | c.124C>A (p.Gln42Lys) c.49C>A (p.Gln17Lys) n.31C>A | |
2 | g.202464856C= | CA1321507563 | BMPR2 | c.124C= (p.Gln42=) c.49C= (p.Gln17=) n.31C= | |
2 | g.202464856C>G | CA350399160 | BMPR2 | c.124C>G (p.Gln42Glu) c.49C>G (p.Gln17Glu) n.31C>G | gnomAD v4 |
2 | g.202464856C>T | CA350399161 | BMPR2 | c.124C>T (p.Gln42Ter) c.49C>T (p.Gln17Ter) n.31C>T | ClinVar dbSNP |
2 | g.202464857A= | CA1321507570 | BMPR2 | c.125A= (p.Gln42=) c.50A= (p.Gln17=) n.32A= | |
2 | g.202464857A>C | CA350399168 | BMPR2 | c.125A>C (p.Gln42Pro) c.50A>C (p.Gln17Pro) n.32A>C | |
2 | g.202464857A>G | CA350399166 | BMPR2 | c.125A>G (p.Gln42Arg) c.50A>G (p.Gln17Arg) n.32A>G | ClinVar dbSNP |
2 | g.202464857A>T | CA350399165 | BMPR2 | c.125A>T (p.Gln42Leu) c.50A>T (p.Gln17Leu) n.32A>T | |
2 | g.202464858A>C | CA350399172 | BMPR2 | c.126A>C (p.Gln42His) c.51A>C (p.Gln17His) n.33A>C | |
2 | g.202464858A>G | CA430903600 | BMPR2 | c.126A>G (p.Gln42=) c.51A>G (p.Gln17=) n.33A>G | gnomAD v4 |
2 | g.202464858A>T | CA350399170 | BMPR2 | c.126A>T (p.Gln42His) c.51A>T (p.Gln17His) n.33A>T | |
2 | g.202464859G>A | CA350399174 | BMPR2 | c.127G>A (p.Asp43Asn) c.52G>A (p.Asp18Asn) n.34G>A | |
2 | g.202464859G>C | CA350399176 | BMPR2 | c.127G>C (p.Asp43His) c.52G>C (p.Asp18His) n.34G>C | |
2 | g.202464859G>T | CA350399178 | BMPR2 | c.127G>T (p.Asp43Tyr) c.52G>T (p.Asp18Tyr) n.34G>T | |
2 | g.202464860A>C | CA350399181 | BMPR2 | c.128A>C (p.Asp43Ala) c.53A>C (p.Asp18Ala) n.35A>C | gnomAD v4 |
2 | g.202464860A>G | CA350399182 | BMPR2 | c.128A>G (p.Asp43Gly) c.53A>G (p.Asp18Gly) n.35A>G | |
2 | g.202464860A>T | CA350399184 | BMPR2 | c.128A>T (p.Asp43Val) c.53A>T (p.Asp18Val) n.35A>T | |
2 | g.202464861C>A | CA350399187 | BMPR2 | c.129C>A (p.Asp43Glu) c.54C>A (p.Asp18Glu) n.36C>A | |
2 | g.202464861C>G | CA350399188 | BMPR2 | c.129C>G (p.Asp43Glu) c.54C>G (p.Asp18Glu) n.36C>G | |
2 | g.202464861C>T | CA430903602 | BMPR2 | c.129C>T (p.Asp43=) c.54C>T (p.Asp18=) n.36C>T | |
2 | g.202464862C>A | CA350399191 | BMPR2 | c.130C>A (p.Leu44Ile) c.55C>A (p.Leu19Ile) n.37C>A | |
2 | g.202464862C>G | CA350399193 | BMPR2 | c.130C>G (p.Leu44Val) c.55C>G (p.Leu19Val) n.37C>G | |
2 | g.202464862C>T | CA350399195 | BMPR2 | c.130C>T (p.Leu44Phe) c.55C>T (p.Leu19Phe) n.37C>T | |
2 | g.202464863T>A | CA350399202 | BMPR2 | c.131T>A (p.Leu44His) c.56T>A (p.Leu19His) n.38T>A | |
2 | g.202464863T>C | CA350399200 | BMPR2 | c.131T>C (p.Leu44Pro) c.56T>C (p.Leu19Pro) n.38T>C | |
2 | g.202464863T>G | CA350399198 | BMPR2 | c.131T>G (p.Leu44Arg) c.56T>G (p.Leu19Arg) n.38T>G | |
2 | g.202464864T>A | CA430903603 | BMPR2 | c.132T>A (p.Leu44=) c.57T>A (p.Leu19=) n.39T>A | |
2 | g.202464864T>C | CA430903604 | BMPR2 | c.132T>C (p.Leu44=) c.57T>C (p.Leu19=) n.39T>C | gnomAD v4 |
2 | g.202464864T>G | CA430903605 | BMPR2 | c.132T>G (p.Leu44=) c.57T>G (p.Leu19=) n.39T>G | |
2 | g.202464865G>A | CA350399204 | BMPR2 | c.133G>A (p.Gly45Arg) c.58G>A (p.Gly20Arg) n.40G>A | |
2 | g.202464865G>C | CA350399206 | BMPR2 | c.133G>C (p.Gly45Arg) c.58G>C (p.Gly20Arg) n.40G>C | |
2 | g.202464865G>T | CA350399208 | BMPR2 | c.133G>T (p.Gly45Trp) c.58G>T (p.Gly20Trp) n.40G>T | |
2 | g.202464867dup | CA2586965528 | BMPR2 | c.135dup (p.Ile46AspfsTer3) c.60dup (p.Ile21AspfsTer3) n.42dup | |
2 | g.202464867del | CA2573134350 | BMPR2 | c.135del (p.Ile46Ter) c.60del (p.Ile21Ter) n.42del | ClinVar dbSNP |
2 | g.202464866G>A | CA350399211 | BMPR2 | c.134G>A (p.Gly45Glu) c.59G>A (p.Gly20Glu) n.41G>A | |
2 | g.202464866G>C | CA350399213 | BMPR2 | c.134G>C (p.Gly45Ala) c.59G>C (p.Gly20Ala) n.41G>C | dbSNP |
2 | g.202464866G= | CA1321507575 | BMPR2 | c.134G= (p.Gly45=) c.59G= (p.Gly20=) n.41G= | |
2 | g.202464866G>T | CA350399214 | BMPR2 | c.134G>T (p.Gly45Val) c.59G>T (p.Gly20Val) n.41G>T | |
2 | g.202464867G>A | CA430903606 | BMPR2 | c.135G>A (p.Gly45=) c.60G>A (p.Gly20=) n.42G>A | gnomAD v4 |
2 | g.202464867G>C | CA430903608 | BMPR2 | c.135G>C (p.Gly45=) c.60G>C (p.Gly20=) n.42G>C | |
2 | g.202464867G>T | CA430903607 | BMPR2 | c.135G>T (p.Gly45=) c.60G>T (p.Gly20=) n.42G>T | COSMIC |
2 | g.202464868A= | CA1321507578 | BMPR2 | c.136A= (p.Ile46=) c.61A= (p.Ile21=) n.43A= | |
2 | g.202464868A>C | CA350399217 | BMPR2 | c.136A>C (p.Ile46Leu) c.61A>C (p.Ile21Leu) n.43A>C | |
2 | g.202464868A>G | CA241419 | BMPR2 | c.136A>G (p.Ile46Val) c.61A>G (p.Ile21Val) n.43A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464868A>T | CA2061041 | BMPR2 | c.136A>T (p.Ile46Leu) c.61A>T (p.Ile21Leu) n.43A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464869T>A | CA350399221 | BMPR2 | c.137T>A (p.Ile46Lys) c.62T>A (p.Ile21Lys) n.44T>A | |
2 | g.202464869T>C | CA350399223 | BMPR2 | c.137T>C (p.Ile46Thr) c.62T>C (p.Ile21Thr) n.44T>C | gnomAD v4 |
2 | g.202464869T>G | CA350399225 | BMPR2 | c.137T>G (p.Ile46Arg) c.62T>G (p.Ile21Arg) n.44T>G | |
2 | g.202464870A= | CA1321507592 | BMPR2 | c.138A= (p.Ile46=) c.63A= (p.Ile21=) n.45A= | |
2 | g.202464870A>C | CA430903609 | BMPR2 | c.138A>C (p.Ile46=) c.63A>C (p.Ile21=) n.45A>C | |
2 | g.202464870A>G | CA350399228 | BMPR2 | c.138A>G (p.Ile46Met) c.63A>G (p.Ile21Met) n.45A>G | dbSNP |
2 | g.202464870A>T | CA430903610 | BMPR2 | c.138A>T (p.Ile46=) c.63A>T (p.Ile21=) n.45A>T | |
2 | g.202464871G>A | CA350399232 | BMPR2 | c.139G>A (p.Gly47Ser) c.64G>A (p.Gly22Ser) n.46G>A | dbSNP gnomAD v4 |
2 | g.202464871G>C | CA350399234 | BMPR2 | c.139G>C (p.Gly47Arg) c.64G>C (p.Gly22Arg) n.46G>C | |
2 | g.202464871G= | CA1321507595 | BMPR2 | c.139G= (p.Gly47=) c.64G= (p.Gly22=) n.46G= | |
2 | g.202464871G>T | CA350399229 | BMPR2 | c.139G>T (p.Gly47Cys) c.64G>T (p.Gly22Cys) n.46G>T | |
2 | g.202464872G>A | CA350399236 | BMPR2 | c.140G>A (p.Gly47Asp) c.65G>A (p.Gly22Asp) n.47G>A | ClinVar dbSNP |
2 | g.202464872G>C | CA350399238 | BMPR2 | c.140G>C (p.Gly47Ala) c.65G>C (p.Gly22Ala) n.47G>C | |
2 | g.202464872G= | CA1321507598 | BMPR2 | c.140G= (p.Gly47=) c.65G= (p.Gly22=) n.47G= | |
2 | g.202464872G>T | CA350399240 | BMPR2 | c.140G>T (p.Gly47Val) c.65G>T (p.Gly22Val) n.47G>T | |
2 | g.202464873T>A | CA430903611 | BMPR2 | c.141T>A (p.Gly47=) c.66T>A (p.Gly22=) n.48T>A | |
2 | g.202464873T>C | CA430903612 | BMPR2 | c.141T>C (p.Gly47=) c.66T>C (p.Gly22=) n.48T>C | dbSNP |
2 | g.202464873T>G | CA430903613 | BMPR2 | c.141T>G (p.Gly47=) c.66T>G (p.Gly22=) n.48T>G | |
2 | g.202464873T= | CA1321507604 | BMPR2 | c.141T= (p.Gly47=) c.66T= (p.Gly22=) n.48T= | |
2 | g.202464874G>A | CA350399242 | BMPR2 | c.142G>A (p.Glu48Lys) c.67G>A (p.Glu23Lys) n.49G>A | |
2 | g.202464874G>C | CA350399243 | BMPR2 | c.142G>C (p.Glu48Gln) c.67G>C (p.Glu23Gln) n.49G>C | |
2 | g.202464874G>T | CA350399245 | BMPR2 | c.142G>T (p.Glu48Ter) c.67G>T (p.Glu23Ter) n.49G>T | |
2 | g.202464874dup | CA916082273 | BMPR2 | c.142dup (p.Glu48GlyfsTer3) c.67dup (p.Glu23GlyfsTer3) n.49dup | ClinVar dbSNP |
2 | g.202464875A>C | CA350399251 | BMPR2 | c.143A>C (p.Glu48Ala) c.68A>C (p.Glu23Ala) n.50A>C | |
2 | g.202464875A>G | CA350399247 | BMPR2 | c.143A>G (p.Glu48Gly) c.68A>G (p.Glu23Gly) n.50A>G | |
2 | g.202464875A>T | CA350399249 | BMPR2 | c.143A>T (p.Glu48Val) c.68A>T (p.Glu23Val) n.50A>T | |
2 | g.202464876G>A | CA430903614 | BMPR2 | c.144G>A (p.Glu48=) c.69G>A (p.Glu23=) n.51G>A | |
2 | g.202464876G>C | CA350399252 | BMPR2 | c.144G>C (p.Glu48Asp) c.69G>C (p.Glu23Asp) n.51G>C | |
2 | g.202464876G= | CA1321507615 | BMPR2 | c.144G= (p.Glu48=) c.69G= (p.Glu23=) n.51G= | |
2 | g.202464876G>T | CA350399254 | BMPR2 | c.144G>T (p.Glu48Asp) c.69G>T (p.Glu23Asp) n.51G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464877A>C | CA350399256 | BMPR2 | c.145A>C (p.Ser49Arg) c.70A>C (p.Ser24Arg) n.52A>C | |
2 | g.202464877A>G | CA350399257 | BMPR2 | c.145A>G (p.Ser49Gly) c.70A>G (p.Ser24Gly) n.52A>G | |
2 | g.202464877A>T | CA350399258 | BMPR2 | c.145A>T (p.Ser49Cys) c.70A>T (p.Ser24Cys) n.52A>T | |
2 | g.202464878del | CA2573134351 | BMPR2 | c.146del (p.Ser49IlefsTer29) c.71del (p.Ser24IlefsTer29) n.53del | ClinVar dbSNP |
2 | g.202464878G>A | CA350399259 | BMPR2 | c.146G>A (p.Ser49Asn) c.71G>A (p.Ser24Asn) n.53G>A | dbSNP |
2 | g.202464878G>C | CA350399261 | BMPR2 | c.146G>C (p.Ser49Thr) c.71G>C (p.Ser24Thr) n.53G>C | |
2 | g.202464878G= | CA1321507619 | BMPR2 | c.146G= (p.Ser49=) c.71G= (p.Ser24=) n.53G= | |
2 | g.202464878G>T | CA350399260 | BMPR2 | c.146G>T (p.Ser49Ile) c.71G>T (p.Ser24Ile) n.53G>T | |
2 | g.202464879T>A | CA350399262 | BMPR2 | c.147T>A (p.Ser49Arg) c.72T>A (p.Ser24Arg) n.54T>A | |
2 | g.202464879T>C | CA2061043 | BMPR2 | c.147T>C (p.Ser49=) c.72T>C (p.Ser24=) n.54T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464879T>G | CA2061042 | BMPR2 | c.147T>G (p.Ser49Arg) c.72T>G (p.Ser24Arg) n.54T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464879T= | CA1321507625 | BMPR2 | c.147T= (p.Ser49=) c.72T= (p.Ser24=) n.54T= | |
2 | g.202464880A>C | CA430903615 | BMPR2 | c.148A>C (p.Arg50=) c.73A>C (p.Arg25=) n.55A>C | |
2 | g.202464880A>G | CA350399263 | BMPR2 | c.148A>G (p.Arg50Gly) c.73A>G (p.Arg25Gly) n.55A>G | |
2 | g.202464880A>T | CA350399264 | BMPR2 | c.148A>T (p.Arg50Ter) c.73A>T (p.Arg25Ter) n.55A>T | |
2 | g.202464881G>A | CA350399265 | BMPR2 | c.149G>A (p.Arg50Lys) c.74G>A (p.Arg25Lys) n.56G>A | |
2 | g.202464881G>C | CA350399266 | BMPR2 | c.149G>C (p.Arg50Thr) c.74G>C (p.Arg25Thr) n.56G>C | |
2 | g.202464881G>T | CA350399267 | BMPR2 | c.149G>T (p.Arg50Ile) c.74G>T (p.Arg25Ile) n.56G>T | |
2 | g.202464882A= | CA1321507628 | BMPR2 | c.150A= (p.Arg50=) c.75A= (p.Arg25=) n.57A= | |
2 | g.202464882A>C | CA350399268 | BMPR2 | c.150A>C (p.Arg50Ser) c.75A>C (p.Arg25Ser) n.57A>C | |
2 | g.202464882A>G | CA2061044 | BMPR2 | c.150A>G (p.Arg50=) c.75A>G (p.Arg25=) n.57A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464882A>T | CA350399269 | BMPR2 | c.150A>T (p.Arg50Ser) c.75A>T (p.Arg25Ser) n.57A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202464883A= | CA1321507633 | BMPR2 | c.151A= (p.Ile51=) c.76A= (p.Ile26=) n.58A= | |
2 | g.202464883A>C | CA350399270 | BMPR2 | c.151A>C (p.Ile51Leu) c.76A>C (p.Ile26Leu) n.58A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464883A>G | CA350399272 | BMPR2 | c.151A>G (p.Ile51Val) c.76A>G (p.Ile26Val) n.58A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202464883A>T | CA350399271 | BMPR2 | c.151A>T (p.Ile51Phe) c.76A>T (p.Ile26Phe) n.58A>T | |
2 | g.202464883_202464885delinsATC | CA1321507631 | BMPR2 | c.151_153delinsATC (p.Ile51=) c.76_78delinsATC (p.Ile26=) n.58_60delinsATC | |
2 | g.202464884T>A | CA350399273 | BMPR2 | c.152T>A (p.Ile51Asn) c.77T>A (p.Ile26Asn) n.59T>A | |
2 | g.202464884T>C | CA350399274 | BMPR2 | c.152T>C (p.Ile51Thr) c.77T>C (p.Ile26Thr) n.59T>C | |
2 | g.202464884T>G | CA350399275 | BMPR2 | c.152T>G (p.Ile51Ser) c.77T>G (p.Ile26Ser) n.59T>G | |
2 | g.202464888_202464889del | CA645293991 | BMPR2 | c.156_157del (p.His53Ter) c.81_82del (p.His28Ter) n.63_64del | ClinVar dbSNP |
2 | g.202464885C>A | CA430903616 | BMPR2 | c.153C>A (p.Ile51=) c.78C>A (p.Ile26=) n.60C>A | |
2 | g.202464885C= | CA1321507642 | BMPR2 | c.153C= (p.Ile51=) c.78C= (p.Ile26=) n.60C= | |
2 | g.202464885C>G | CA350399276 | BMPR2 | c.153C>G (p.Ile51Met) c.78C>G (p.Ile26Met) n.60C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464885C>T | CA430903617 | BMPR2 | c.153C>T (p.Ile51=) c.78C>T (p.Ile26=) n.60C>T | |
2 | g.202464886T>A | CA350399277 | BMPR2 | c.154T>A (p.Ser52Thr) c.79T>A (p.Ser27Thr) n.61T>A | |
2 | g.202464886T>C | CA350399278 | BMPR2 | c.154T>C (p.Ser52Pro) c.79T>C (p.Ser27Pro) n.61T>C | |
2 | g.202464886T>G | CA350399279 | BMPR2 | c.154T>G (p.Ser52Ala) c.79T>G (p.Ser27Ala) n.61T>G | |
2 | g.202464887C>A | CA350399280 | BMPR2 | c.155C>A (p.Ser52Tyr) c.80C>A (p.Ser27Tyr) n.62C>A | |
2 | g.202464887C= | CA1321507649 | BMPR2 | c.155C= (p.Ser52=) c.80C= (p.Ser27=) n.62C= | |
2 | g.202464887C>G | CA350399281 | BMPR2 | c.155C>G (p.Ser52Cys) c.80C>G (p.Ser27Cys) n.62C>G | |
2 | g.202464887C>T | CA64532181 | BMPR2 | c.155C>T (p.Ser52Phe) c.80C>T (p.Ser27Phe) n.62C>T | dbSNP gnomAD v4 |
2 | g.202464888T>A | CA430903618 | BMPR2 | c.156T>A (p.Ser52=) c.81T>A (p.Ser27=) n.63T>A | |
2 | g.202464888T>C | CA430903619 | BMPR2 | c.156T>C (p.Ser52=) c.81T>C (p.Ser27=) n.63T>C | |
2 | g.202464888T>G | CA430903620 | BMPR2 | c.156T>G (p.Ser52=) c.81T>G (p.Ser27=) n.63T>G | gnomAD v4 |
2 | g.202464889C>A | CA350399282 | BMPR2 | c.157C>A (p.His53Asn) c.82C>A (p.His28Asn) n.64C>A | |
2 | g.202464889C>G | CA350399283 | BMPR2 | c.157C>G (p.His53Asp) c.82C>G (p.His28Asp) n.64C>G | |
2 | g.202464889C>T | CA350399284 | BMPR2 | c.157C>T (p.His53Tyr) c.82C>T (p.His28Tyr) n.64C>T | |
2 | g.202464890A>C | CA350399285 | BMPR2 | c.158A>C (p.His53Pro) c.83A>C (p.His28Pro) n.65A>C | |
2 | g.202464890A>G | CA350399287 | BMPR2 | c.158A>G (p.His53Arg) c.83A>G (p.His28Arg) n.65A>G | gnomAD v4 |
2 | g.202464890A>T | CA350399286 | BMPR2 | c.158A>T (p.His53Leu) c.83A>T (p.His28Leu) n.65A>T | |
2 | g.202464891T>A | CA350399288 | BMPR2 | c.159T>A (p.His53Gln) c.84T>A (p.His28Gln) n.66T>A | |
2 | g.202464891T>C | CA430903621 | BMPR2 | c.159T>C (p.His53=) c.84T>C (p.His28=) n.66T>C | |
2 | g.202464891T>G | CA350399289 | BMPR2 | c.159T>G (p.His53Gln) c.84T>G (p.His28Gln) n.66T>G | |
2 | g.202464892G>A | CA350399290 | BMPR2 | c.160G>A (p.Glu54Lys) c.85G>A (p.Glu29Lys) n.67G>A | |
2 | g.202464892G>C | CA350399291 | BMPR2 | c.160G>C (p.Glu54Gln) c.85G>C (p.Glu29Gln) n.67G>C | |
2 | g.202464892G>T | CA350399292 | BMPR2 | c.160G>T (p.Glu54Ter) c.85G>T (p.Glu29Ter) n.67G>T | |
2 | g.202464893A>C | CA350399293 | BMPR2 | c.161A>C (p.Glu54Ala) c.86A>C (p.Glu29Ala) n.68A>C | |
2 | g.202464893A>G | CA350399294 | BMPR2 | c.161A>G (p.Glu54Gly) c.86A>G (p.Glu29Gly) n.68A>G | |
2 | g.202464893A>T | CA350399295 | BMPR2 | c.161A>T (p.Glu54Val) c.86A>T (p.Glu29Val) n.68A>T | |
2 | g.202464896dup | CA645531963 | BMPR2 | c.164dup (p.Asn55LysfsTer10) c.89dup (p.Asn30LysfsTer10) n.71dup | COSMIC |
2 | g.202464896del | CA2586965529 | BMPR2 | c.164del (p.Asn55MetfsTer23) c.89del (p.Asn30MetfsTer23) n.71del | |
2 | g.202464894A>C | CA350399296 | BMPR2 | c.162A>C (p.Glu54Asp) c.87A>C (p.Glu29Asp) n.69A>C | |
2 | g.202464894A>G | CA430903622 | BMPR2 | c.162A>G (p.Glu54=) c.87A>G (p.Glu29=) n.69A>G | |
2 | g.202464894A>T | CA350399297 | BMPR2 | c.162A>T (p.Glu54Asp) c.87A>T (p.Glu29Asp) n.69A>T | |
2 | g.202464895A>C | CA350399299 | BMPR2 | c.163A>C (p.Asn55His) c.88A>C (p.Asn30His) n.70A>C | |
2 | g.202464895A>G | CA350399300 | BMPR2 | c.163A>G (p.Asn55Asp) c.88A>G (p.Asn30Asp) n.70A>G | |
2 | g.202464895A>T | CA350399298 | BMPR2 | c.163A>T (p.Asn55Tyr) c.88A>T (p.Asn30Tyr) n.70A>T | |
2 | g.202464896A>C | CA350399302 | BMPR2 | c.164A>C (p.Asn55Thr) c.89A>C (p.Asn30Thr) n.71A>C | |
2 | g.202464896A>G | CA350399301 | BMPR2 | c.164A>G (p.Asn55Ser) c.89A>G (p.Asn30Ser) n.71A>G | |
2 | g.202464896A>T | CA350399303 | BMPR2 | c.164A>T (p.Asn55Ile) c.89A>T (p.Asn30Ile) n.71A>T | |
2 | g.202464897T>A | CA350399304 | BMPR2 | c.165T>A (p.Asn55Lys) c.90T>A (p.Asn30Lys) n.72T>A | |
2 | g.202464897T>C | CA2061045 | BMPR2 | c.165T>C (p.Asn55=) c.90T>C (p.Asn30=) n.72T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464897T>G | CA350399305 | BMPR2 | c.165T>G (p.Asn55Lys) c.90T>G (p.Asn30Lys) n.72T>G | |
2 | g.202464897T= | CA1321507655 | BMPR2 | c.165T= (p.Asn55=) c.90T= (p.Asn30=) n.72T= | |
2 | g.202464897_202464898delinsTG | CA1321507658 | BMPR2 | c.165_166delinsTG (p.Asn55=) c.90_91delinsTG (p.Asn30=) n.72_73delinsTG | |
2 | g.202464898G>A | CA350399306 | BMPR2 | c.166G>A (p.Gly56Arg) c.91G>A (p.Gly31Arg) n.73G>A | gnomAD v4 |
2 | g.202464898G>C | CA350399307 | BMPR2 | c.166G>C (p.Gly56Arg) c.91G>C (p.Gly31Arg) n.73G>C | |
2 | g.202464898G>T | CA350399308 | BMPR2 | c.166G>T (p.Gly56Trp) c.91G>T (p.Gly31Trp) n.73G>T | |
2 | g.202464900del | CA645293992 | BMPR2 | c.168del (p.Thr57GlnfsTer21) c.93del (p.Thr32GlnfsTer21) n.75del | ClinVar dbSNP |
2 | g.202464899G>A | CA350399309 | BMPR2 | c.167G>A (p.Gly56Glu) c.92G>A (p.Gly31Glu) n.74G>A | |
2 | g.202464899G>C | CA350399310 | BMPR2 | c.167G>C (p.Gly56Ala) c.92G>C (p.Gly31Ala) n.74G>C | dbSNP |
2 | g.202464899G= | CA1321507663 | BMPR2 | c.167G= (p.Gly56=) c.92G= (p.Gly31=) n.74G= | |
2 | g.202464899G>T | CA350399311 | BMPR2 | c.167G>T (p.Gly56Val) c.92G>T (p.Gly31Val) n.74G>T | |
2 | g.202464900G>A | CA430903623 | BMPR2 | c.168G>A (p.Gly56=) c.93G>A (p.Gly31=) n.75G>A | dbSNP gnomAD v4 |
2 | g.202464900G>C | CA430903624 | BMPR2 | c.168G>C (p.Gly56=) c.93G>C (p.Gly31=) n.75G>C | |
2 | g.202464900G= | CA1321507665 | BMPR2 | c.168G= (p.Gly56=) c.93G= (p.Gly31=) n.75G= | |
2 | g.202464900G>T | CA430903625 | BMPR2 | c.168G>T (p.Gly56=) c.93G>T (p.Gly31=) n.75G>T | |
2 | g.202464901A>C | CA350399312 | BMPR2 | c.169A>C (p.Thr57Pro) c.94A>C (p.Thr32Pro) n.76A>C | |
2 | g.202464901A>G | CA350399313 | BMPR2 | c.169A>G (p.Thr57Ala) c.94A>G (p.Thr32Ala) n.76A>G | |
2 | g.202464901A>T | CA350399314 | BMPR2 | c.169A>T (p.Thr57Ser) c.94A>T (p.Thr32Ser) n.76A>T | |
2 | g.202464902C>A | CA350399317 | BMPR2 | c.170C>A (p.Thr57Lys) c.95C>A (p.Thr32Lys) n.77C>A | |
2 | g.202464902C>G | CA350399316 | BMPR2 | c.170C>G (p.Thr57Arg) c.95C>G (p.Thr32Arg) n.77C>G | |
2 | g.202464902C>T | CA350399315 | BMPR2 | c.170C>T (p.Thr57Ile) c.95C>T (p.Thr32Ile) n.77C>T | |
2 | g.202464903A= | CA1321507670 | BMPR2 | c.171A= (p.Thr57=) c.96A= (p.Thr32=) n.78A= | |
2 | g.202464903A>C | CA430903626 | BMPR2 | c.171A>C (p.Thr57=) c.96A>C (p.Thr32=) n.78A>C | |
2 | g.202464903A>G | CA430903627 | BMPR2 | c.171A>G (p.Thr57=) c.96A>G (p.Thr32=) n.78A>G | |
2 | g.202464903A>T | CA430903628 | BMPR2 | c.171A>T (p.Thr57=) c.96A>T (p.Thr32=) n.78A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202464904_202464906del | CA2739279831 | BMPR2 | c.172_174del (p.Ile58del) c.97_99del (p.Ile33del) n.79_81del | ClinVar |
2 | g.202464904A= | CA1321507676 | BMPR2 | c.172A= (p.Ile58=) c.97A= (p.Ile33=) n.79A= | |
2 | g.202464904A>C | CA350399318 | BMPR2 | c.172A>C (p.Ile58Leu) c.97A>C (p.Ile33Leu) n.79A>C | |
2 | g.202464904A>G | CA350399319 | BMPR2 | c.172A>G (p.Ile58Val) c.97A>G (p.Ile33Val) n.79A>G | dbSNP |
2 | g.202464904A>T | CA350399320 | BMPR2 | c.172A>T (p.Ile58Leu) c.97A>T (p.Ile33Leu) n.79A>T | |
2 | g.202464906_202464907dup | CA10587992 | BMPR2 | c.174_175dup (p.Leu59TyrfsTer20) c.99_100dup (p.Leu34TyrfsTer20) n.81_82dup | ClinVar dbSNP |
2 | g.202464905T>A | CA350399321 | BMPR2 | c.173T>A (p.Ile58Lys) c.98T>A (p.Ile33Lys) n.80T>A | |
2 | g.202464905T>C | CA350399322 | BMPR2 | c.173T>C (p.Ile58Thr) c.98T>C (p.Ile33Thr) n.80T>C | |
2 | g.202464905T>G | CA350399323 | BMPR2 | c.173T>G (p.Ile58Arg) c.98T>G (p.Ile33Arg) n.80T>G | |
2 | g.202464908_202464910del | CA2662703809 | BMPR2 | c.176_178del (p.Leu59del) c.101_103del (p.Leu34del) n.83_85del | gnomAD v4 |
2 | g.202464906A= | CA1321507679 | BMPR2 | c.174A= (p.Ile58=) c.99A= (p.Ile33=) n.81A= | |
2 | g.202464906A>C | CA430903629 | BMPR2 | c.174A>C (p.Ile58=) c.99A>C (p.Ile33=) n.81A>C | |
2 | g.202464906A>G | CA2061046 | BMPR2 | c.174A>G (p.Ile58Met) c.99A>G (p.Ile33Met) n.81A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464906A>T | CA430903630 | BMPR2 | c.174A>T (p.Ile58=) c.99A>T (p.Ile33=) n.81A>T | |
2 | g.202464907T>A | CA350399324 | BMPR2 | c.175T>A (p.Leu59Ile) c.100T>A (p.Leu34Ile) n.82T>A | |
2 | g.202464907T>C | CA430903631 | BMPR2 | c.175T>C (p.Leu59=) c.100T>C (p.Leu34=) n.82T>C | ClinVar gnomAD v4 |
2 | g.202464907T>G | CA350399325 | BMPR2 | c.175T>G (p.Leu59Val) c.100T>G (p.Leu34Val) n.82T>G | |
2 | g.202464908T>A | CA350399326 | BMPR2 | c.176T>A (p.Leu59Ter) c.101T>A (p.Leu34Ter) n.83T>A | |
2 | g.202464908T>C | CA350399327 | BMPR2 | c.176T>C (p.Leu59Ser) c.101T>C (p.Leu34Ser) n.83T>C | |
2 | g.202464908T>G | CA350399328 | BMPR2 | c.176T>G (p.Leu59Ter) c.101T>G (p.Leu34Ter) n.83T>G | |
2 | g.202464909A>C | CA350399329 | BMPR2 | c.177A>C (p.Leu59Phe) c.102A>C (p.Leu34Phe) n.84A>C | |
2 | g.202464909A>G | CA430903632 | BMPR2 | c.177A>G (p.Leu59=) c.102A>G (p.Leu34=) n.84A>G | |
2 | g.202464909A>T | CA350399330 | BMPR2 | c.177A>T (p.Leu59Phe) c.102A>T (p.Leu34Phe) n.84A>T | |
2 | g.202464910T>A | CA350399331 | BMPR2 | c.178T>A (p.Cys60Ser) c.103T>A (p.Cys35Ser) n.85T>A | |
2 | g.202464910T>C | CA350399332 | BMPR2 | c.178T>C (p.Cys60Arg) c.103T>C (p.Cys35Arg) n.85T>C | ClinVar dbSNP |
2 | g.202464910T>G | CA350399333 | BMPR2 | c.178T>G (p.Cys60Gly) c.103T>G (p.Cys35Gly) n.85T>G | ClinVar dbSNP |
2 | g.202464910T= | CA1321507683 | BMPR2 | c.178T= (p.Cys60=) c.103T= (p.Cys35=) n.85T= | |
2 | g.202464911G>A | CA350399334 | BMPR2 | c.179G>A (p.Cys60Tyr) c.104G>A (p.Cys35Tyr) n.86G>A | ClinVar dbSNP |
2 | g.202464911G>C | CA350399335 | BMPR2 | c.179G>C (p.Cys60Ser) c.104G>C (p.Cys35Ser) n.86G>C | |
2 | g.202464911G= | CA1321507687 | BMPR2 | c.179G= (p.Cys60=) c.104G= (p.Cys35=) n.86G= | |
2 | g.202464911G>T | CA350399336 | BMPR2 | c.179G>T (p.Cys60Phe) c.104G>T (p.Cys35Phe) n.86G>T | ClinVar dbSNP |
2 | g.202464912C>A | CA350399337 | BMPR2 | c.180C>A (p.Cys60Ter) c.105C>A (p.Cys35Ter) n.87C>A | COSMIC |
2 | g.202464912C>G | CA350399338 | BMPR2 | c.180C>G (p.Cys60Trp) c.105C>G (p.Cys35Trp) n.87C>G | |
2 | g.202464912C>T | CA430903633 | BMPR2 | c.180C>T (p.Cys60=) c.105C>T (p.Cys35=) n.87C>T | ClinVar dbSNP gnomAD v4 |
2 | g.202464912_202464914del | CA2586965531 | BMPR2 | c.180_182del (p.Cys60_Ser61delinsTrp) c.105_107del (p.Cys35_Ser36delinsTrp) n.87_89del | |
2 | g.202464913T>A | CA350399339 | BMPR2 | c.181T>A (p.Ser61Thr) c.106T>A (p.Ser36Thr) n.88T>A | COSMIC |
2 | g.202464913T>C | CA350399341 | BMPR2 | c.181T>C (p.Ser61Pro) c.106T>C (p.Ser36Pro) n.88T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464913T>G | CA350399340 | BMPR2 | c.181T>G (p.Ser61Ala) c.106T>G (p.Ser36Ala) n.88T>G | |
2 | g.202464913T= | CA1321507692 | BMPR2 | c.181T= (p.Ser61=) c.106T= (p.Ser36=) n.88T= | |
2 | g.202464914C>A | CA350399342 | BMPR2 | c.182C>A (p.Ser61Ter) c.107C>A (p.Ser36Ter) n.89C>A | |
2 | g.202464914C= | CA1321507694 | BMPR2 | c.182C= (p.Ser61=) c.107C= (p.Ser36=) n.89C= | |
2 | g.202464914C>G | CA350399343 | BMPR2 | c.182C>G (p.Ser61Trp) c.107C>G (p.Ser36Trp) n.89C>G | gnomAD v4 |
2 | g.202464914C>T | CA350399344 | BMPR2 | c.182C>T (p.Ser61Leu) c.107C>T (p.Ser36Leu) n.89C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202464915G>A | CA2061047 | BMPR2 | c.183G>A (p.Ser61=) c.108G>A (p.Ser36=) n.90G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464915G>C | CA430903634 | BMPR2 | c.183G>C (p.Ser61=) c.108G>C (p.Ser36=) n.90G>C | |
2 | g.202464915G= | CA1321507696 | BMPR2 | c.183G= (p.Ser61=) c.108G= (p.Ser36=) n.90G= | |
2 | g.202464915G>T | CA430903635 | BMPR2 | c.183G>T (p.Ser61=) c.108G>T (p.Ser36=) n.90G>T | gnomAD v4 |
2 | g.202464916A= | CA1321507704 | BMPR2 | c.184A= (p.Lys62=) c.109A= (p.Lys37=) n.91A= | |
2 | g.202464916A>C | CA350399345 | BMPR2 | c.184A>C (p.Lys62Gln) c.109A>C (p.Lys37Gln) n.91A>C | |
2 | g.202464916A>G | CA350399347 | BMPR2 | c.184A>G (p.Lys62Glu) c.109A>G (p.Lys37Glu) n.91A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202464916A>T | CA350399346 | BMPR2 | c.184A>T (p.Lys62Ter) c.109A>T (p.Lys37Ter) n.91A>T | |
2 | g.202464918dup | CA322535 | BMPR2 | c.186dup (p.Gly63ArgfsTer2) c.111dup (p.Gly38ArgfsTer2) n.93dup | ClinVar dbSNP |
2 | g.202464917A>C | CA350399348 | BMPR2 | c.185A>C (p.Lys62Thr) c.110A>C (p.Lys37Thr) n.92A>C | gnomAD v4 |
2 | g.202464917A>G | CA350399349 | BMPR2 | c.185A>G (p.Lys62Arg) c.110A>G (p.Lys37Arg) n.92A>G | |
2 | g.202464917A>T | CA350399350 | BMPR2 | c.185A>T (p.Lys62Ile) c.110A>T (p.Lys37Ile) n.92A>T | |
2 | g.202464918A= | CA1321507706 | BMPR2 | c.186A= (p.Lys62=) c.111A= (p.Lys37=) n.93A= | |
2 | g.202464918A>C | CA350399351 | BMPR2 | c.186A>C (p.Lys62Asn) c.111A>C (p.Lys37Asn) n.93A>C | |
2 | g.202464918A>G | CA430903636 | BMPR2 | c.186A>G (p.Lys62=) c.111A>G (p.Lys37=) n.93A>G | |
2 | g.202464918A>T | CA350399352 | BMPR2 | c.186A>T (p.Lys62Asn) c.111A>T (p.Lys37Asn) n.93A>T | |
2 | g.202464918_202464919insTACC | CA645293993 | BMPR2 | c.186_187insTACC (p.Gly63TyrfsTer3) c.111_112insTACC (p.Gly38TyrfsTer3) n.93_94insTACC | ClinVar dbSNP |
2 | g.202464919G>A | CA350399353 | BMPR2 | c.187G>A (p.Gly63Ser) c.112G>A (p.Gly38Ser) n.94G>A | |
2 | g.202464919G>C | CA2061048 | BMPR2 | c.187G>C (p.Gly63Arg) c.112G>C (p.Gly38Arg) n.94G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464919G= | CA1321507712 | BMPR2 | c.187G= (p.Gly63=) c.112G= (p.Gly38=) n.94G= | |
2 | g.202464919G>T | CA350399354 | BMPR2 | c.187G>T (p.Gly63Cys) c.112G>T (p.Gly38Cys) n.94G>T | |
2 | g.202464919_202464940delinsGGTAGCACCTGCTATGGCCTTT | CA1321507710 | BMPR2 | c.187_208delinsGGTAGCACCTGCTATGGCCTTT (p.Gly63=) c.112_133delinsGGTAGCACCTGCTATGGCCTTT (p.Gly38=) n.94_115delinsGGTAGCACCTGCTATGGCCTTT | |
2 | g.202464920G>A | CA350399355 | BMPR2 | c.188G>A (p.Gly63Asp) c.113G>A (p.Gly38Asp) n.95G>A | |
2 | g.202464920G>C | CA350399356 | BMPR2 | c.188G>C (p.Gly63Ala) c.113G>C (p.Gly38Ala) n.95G>C | |
2 | g.202464920G>T | CA350399357 | BMPR2 | c.188G>T (p.Gly63Val) c.113G>T (p.Gly38Val) n.95G>T | |
2 | g.202464920_202464939delinsGTAGCACCTGCTATGGCCTT | CA1321507720 | BMPR2 | c.188_207delinsGTAGCACCTGCTATGGCCTT (p.Gly63=) c.113_132delinsGTAGCACCTGCTATGGCCTT (p.Gly38=) n.95_114delinsGTAGCACCTGCTATGGCCTT | |
2 | g.202464921_202464941del | CA645293994 | BMPR2 | c.189_209del (p.Ser64_Trp70del) c.114_134del (p.Ser39_Trp45del) n.96_116del | ClinVar dbSNP |
2 | g.202464921T>A | CA430903637 | BMPR2 | c.189T>A (p.Gly63=) c.114T>A (p.Gly38=) n.96T>A | |
2 | g.202464921T>C | CA430903638 | BMPR2 | c.189T>C (p.Gly63=) c.114T>C (p.Gly38=) n.96T>C | |
2 | g.202464921T>G | CA430903639 | BMPR2 | c.189T>G (p.Gly63=) c.114T>G (p.Gly38=) n.96T>G | |
2 | g.202464921dup | CA2580065450 | BMPR2 | c.189dup (p.Ser64Ter) c.114dup (p.Ser39Ter) n.96dup | ClinVar |
2 | g.202464921_202464939delinsGGAGCATAATCAAA | CA645293995 | BMPR2 | c.189_207delinsGGAGCATAATCAAA (p.Ser64GlufsTer32) c.114_132delinsGGAGCATAATCAAA (p.Ser39GlufsTer34) n.96_114delinsGGAGCATAATCAAA | ClinVar dbSNP |
2 | g.202464922A= | CA1321507728 | BMPR2 | c.190A= (p.Ser64=) c.115A= (p.Ser39=) n.97A= | |
2 | g.202464922A>C | CA350399358 | BMPR2 | c.190A>C (p.Ser64Arg) c.115A>C (p.Ser39Arg) n.97A>C | |
2 | g.202464922A>G | CA350399360 | BMPR2 | c.190A>G (p.Ser64Gly) c.115A>G (p.Ser39Gly) n.97A>G | dbSNP gnomAD v4 |
2 | g.202464922A>T | CA350399359 | BMPR2 | c.190A>T (p.Ser64Cys) c.115A>T (p.Ser39Cys) n.97A>T |