Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.78865540_78865571dupCA2671157125BMP2Kc.1068-17_1082dup
c.*44-17_*58dup
c.145-17_159dup
n.350-17_364dup
c.828-17_842dup
c.180-17_194dup
 gnomAD v4
4g.78865564_78865570delCA2762313953BMP2Kc.1075_1081del (p.Asp359LeufsTer27)
c.*51_*57del (n.*51_*57del)
c.152_158del
n.357_363del
c.835_841del (p.Asp279LeufsTer27)
c.187_193del (p.Asp63LeufsTer27)
4g.78865568C>ACA357378422BMP2Kc.1079C>A (p.Thr360Asn)
c.*55C>A (n.*55C>A)
c.156C>A
n.361C>A
c.839C>A (p.Thr280Asn)
c.191C>A (p.Thr64Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.78865568C=CA1470731158BMP2Kc.1079C= (p.Thr360=)
c.*55C= (n.*55C=)
c.156C=
n.361C=
c.839C= (p.Thr280=)
c.191C= (p.Thr64=)
4g.78865568C>GCA357378423BMP2Kc.1079C>G (p.Thr360Ser)
c.*55C>G (n.*55C>G)
c.156C>G
n.361C>G
c.839C>G (p.Thr280Ser)
c.191C>G (p.Thr64Ser)
 COSMIC
4g.78865568C>TCA357378424BMP2Kc.1079C>T (p.Thr360Ile)
c.*55C>T (n.*55C>T)
c.156C>T
n.361C>T
c.839C>T (p.Thr280Ile)
c.191C>T (p.Thr64Ile)
4g.78865569C>ACA439976392BMP2Kc.1080C>A (p.Thr360=)
c.*56C>A (n.*56C>A)
c.157C>A
n.362C>A
c.840C>A (p.Thr280=)
c.192C>A (p.Thr64=)
4g.78865569C=CA1470731161BMP2Kc.1080C= (p.Thr360=)
c.*56C= (n.*56C=)
c.157C=
n.362C=
c.840C= (p.Thr280=)
c.192C= (p.Thr64=)
4g.78865569C>GCA439976393BMP2Kc.1080C>G (p.Thr360=)
c.*56C>G (n.*56C>G)
c.157C>G
n.362C>G
c.840C>G (p.Thr280=)
c.192C>G (p.Thr64=)
 dbSNP gnomAD v2 gnomAD v4
4g.78865569C>TCA439976394BMP2Kc.1080C>T (p.Thr360=)
c.*56C>T (n.*56C>T)
c.157C>T
n.362C>T
c.840C>T (p.Thr280=)
c.192C>T (p.Thr64=)
4g.78865570A=CA1470731162BMP2Kc.1081A= (p.Ile361=)
c.*57A= (n.*57A=)
c.158A=
n.363A=
c.841A= (p.Ile281=)
c.193A= (p.Ile65=)
4g.78865570A>CCA357378425BMP2Kc.1081A>C (p.Ile361Leu)
c.*57A>C (n.*57A>C)
c.158A>C
n.363A>C
c.841A>C (p.Ile281Leu)
c.193A>C (p.Ile65Leu)
4g.78865570A>GCA357378426BMP2Kc.1081A>G (p.Ile361Val)
c.*57A>G (n.*57A>G)
c.158A>G
n.363A>G
c.841A>G (p.Ile281Val)
c.193A>G (p.Ile65Val)
 dbSNP
4g.78865570A>TCA357378427BMP2Kc.1081A>T (p.Ile361Phe)
c.*57A>T (n.*57A>T)
c.158A>T
n.363A>T
c.841A>T (p.Ile281Phe)
c.193A>T (p.Ile65Phe)
4g.78865571T>ACA357378428BMP2Kc.1082T>A (p.Ile361Asn)
c.*58T>A (n.*58T>A)
c.159T>A
n.364T>A
c.842T>A (p.Ile281Asn)
c.194T>A (p.Ile65Asn)
4g.78865571T>CCA99975114BMP2Kc.1082T>C (p.Ile361Thr)
c.*58T>C (n.*58T>C)
c.159T>C
n.364T>C
c.842T>C (p.Ile281Thr)
c.194T>C (p.Ile65Thr)
 dbSNP gnomAD v4
4g.78865571T>GCA357378429BMP2Kc.1082T>G (p.Ile361Ser)
c.*58T>G (n.*58T>G)
c.159T>G
n.364T>G
c.842T>G (p.Ile281Ser)
c.194T>G (p.Ile65Ser)
4g.78865571T=CA1470731164BMP2Kc.1082T= (p.Ile361=)
c.*58T= (n.*58T=)
c.159T=
n.364T=
c.842T= (p.Ile281=)
c.194T= (p.Ile65=)
4g.78865572T>ACA439976400BMP2Kc.1083T>A (p.Ile361=)
c.*59T>A (n.*59T>A)
c.160T>A
n.365T>A
c.843T>A (p.Ile281=)
c.195T>A (p.Ile65=)
 dbSNP gnomAD v2 gnomAD v4
4g.78865572T>CCA2980194BMP2Kc.1083T>C (p.Ile361=)
c.*59T>C (n.*59T>C)
c.160T>C
n.365T>C
c.843T>C (p.Ile281=)
c.195T>C (p.Ile65=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865572T>GCA357378430BMP2Kc.1083T>G (p.Ile361Met)
c.*59T>G (n.*59T>G)
c.160T>G
n.365T>G
c.843T>G (p.Ile281Met)
c.195T>G (p.Ile65Met)
4g.78865572T=CA1470731166BMP2Kc.1083T= (p.Ile361=)
c.*59T= (n.*59T=)
c.160T=
n.365T=
c.843T= (p.Ile281=)
c.195T= (p.Ile65=)
4g.78865573G>ACA357378433BMP2Kc.1084G>A (p.Gly362Arg)
c.*60G>A (n.*60G>A)
c.161G>A
n.366G>A
c.844G>A (p.Gly282Arg)
c.196G>A (p.Gly66Arg)
4g.78865573G>CCA357378432BMP2Kc.1084G>C (p.Gly362Arg)
c.*60G>C (n.*60G>C)
c.161G>C
n.366G>C
c.844G>C (p.Gly282Arg)
c.196G>C (p.Gly66Arg)
4g.78865573G>TCA357378431BMP2Kc.1084G>T (p.Gly362Ter)
c.*60G>T (n.*60G>T)
c.161G>T
n.366G>T
c.844G>T (p.Gly282Ter)
c.196G>T (p.Gly66Ter)
4g.78865574G>ACA357378434BMP2Kc.1085G>A (p.Gly362Glu)
c.*61G>A (n.*61G>A)
c.162G>A
n.367G>A
c.845G>A (p.Gly282Glu)
c.197G>A (p.Gly66Glu)
4g.78865574G>CCA357378435BMP2Kc.1085G>C (p.Gly362Ala)
c.*61G>C (n.*61G>C)
c.162G>C
n.367G>C
c.845G>C (p.Gly282Ala)
c.197G>C (p.Gly66Ala)
4g.78865574G>TCA357378436BMP2Kc.1085G>T (p.Gly362Val)
c.*61G>T (n.*61G>T)
c.162G>T
n.367G>T
c.845G>T (p.Gly282Val)
c.197G>T (p.Gly66Val)
4g.78865575A>CCA439976404BMP2Kc.1086A>C (p.Gly362=)
c.*62A>C (n.*62A>C)
c.163A>C
n.368A>C
c.846A>C (p.Gly282=)
c.198A>C (p.Gly66=)
4g.78865575A>GCA439976405BMP2Kc.1086A>G (p.Gly362=)
c.*62A>G (n.*62A>G)
c.163A>G
n.368A>G
c.846A>G (p.Gly282=)
c.198A>G (p.Gly66=)
4g.78865575A>TCA439976406BMP2Kc.1086A>T (p.Gly362=)
c.*62A>T (n.*62A>T)
c.163A>T
n.368A>T
c.846A>T (p.Gly282=)
c.198A>T (p.Gly66=)
4g.78865576C>ACA357378437BMP2Kc.1087C>A (p.Pro363Thr)
c.*63C>A (n.*63C>A)
c.164C>A
n.369C>A
c.847C>A (p.Pro283Thr)
c.199C>A (p.Pro67Thr)
4g.78865576C>GCA357378438BMP2Kc.1087C>G (p.Pro363Ala)
c.*63C>G (n.*63C>G)
c.164C>G
n.369C>G
c.847C>G (p.Pro283Ala)
c.199C>G (p.Pro67Ala)
4g.78865576C>TCA357378439BMP2Kc.1087C>T (p.Pro363Ser)
c.*63C>T (n.*63C>T)
c.164C>T
n.369C>T
c.847C>T (p.Pro283Ser)
c.199C>T (p.Pro67Ser)
 gnomAD v4 COSMIC COSMIC
4g.78865577C>ACA357378440BMP2Kc.1088C>A (p.Pro363Gln)
c.*64C>A (n.*64C>A)
c.165C>A
n.370C>A
c.848C>A (p.Pro283Gln)
c.200C>A (p.Pro67Gln)
 dbSNP
4g.78865577C=CA1470731168BMP2Kc.1088C= (p.Pro363=)
c.*64C= (n.*64C=)
c.165C=
n.370C=
c.848C= (p.Pro283=)
c.200C= (p.Pro67=)
4g.78865577C>GCA357378441BMP2Kc.1088C>G (p.Pro363Arg)
c.*64C>G (n.*64C>G)
c.165C>G
n.370C>G
c.848C>G (p.Pro283Arg)
c.200C>G (p.Pro67Arg)
4g.78865577C>TCA357378442BMP2Kc.1088C>T (p.Pro363Leu)
c.*64C>T (n.*64C>T)
c.165C>T
n.370C>T
c.848C>T (p.Pro283Leu)
c.200C>T (p.Pro67Leu)
4g.78865578A>CCA439976411BMP2Kc.1089A>C (p.Pro363=)
c.*65A>C (n.*65A>C)
c.166A>C
n.371A>C
c.849A>C (p.Pro283=)
c.201A>C (p.Pro67=)
4g.78865578A>GCA439976412BMP2Kc.1089A>G (p.Pro363=)
c.*65A>G (n.*65A>G)
c.166A>G
n.371A>G
c.849A>G (p.Pro283=)
c.201A>G (p.Pro67=)
4g.78865578A>TCA439976413BMP2Kc.1089A>T (p.Pro363=)
c.*65A>T (n.*65A>T)
c.166A>T
n.371A>T
c.849A>T (p.Pro283=)
c.201A>T (p.Pro67=)
4g.78865579A>CCA357378443BMP2Kc.1090A>C (p.Thr364Pro)
c.*66A>C (n.*66A>C)
c.167A>C
n.372A>C
c.850A>C (p.Thr284Pro)
c.202A>C (p.Thr68Pro)
4g.78865579A>GCA357378444BMP2Kc.1090A>G (p.Thr364Ala)
c.*66A>G (n.*66A>G)
c.167A>G
n.372A>G
c.850A>G (p.Thr284Ala)
c.202A>G (p.Thr68Ala)
4g.78865579A>TCA357378445BMP2Kc.1090A>T (p.Thr364Ser)
c.*66A>T (n.*66A>T)
c.167A>T
n.372A>T
c.850A>T (p.Thr284Ser)
c.202A>T (p.Thr68Ser)
 COSMIC COSMIC
4g.78865580C>ACA357378446BMP2Kc.1091C>A (p.Thr364Lys)
c.*67C>A (n.*67C>A)
c.168C>A
n.373C>A
c.851C>A (p.Thr284Lys)
c.203C>A (p.Thr68Lys)
 dbSNP
4g.78865580C=CA1470731171BMP2Kc.1091C= (p.Thr364=)
c.*67C= (n.*67C=)
c.168C=
n.373C=
c.851C= (p.Thr284=)
c.203C= (p.Thr68=)
4g.78865580C>GCA357378448BMP2Kc.1091C>G (p.Thr364Arg)
c.*67C>G (n.*67C>G)
c.168C>G
n.373C>G
c.851C>G (p.Thr284Arg)
c.203C>G (p.Thr68Arg)
4g.78865580C>TCA357378447BMP2Kc.1091C>T (p.Thr364Ile)
c.*67C>T (n.*67C>T)
c.168C>T
n.373C>T
c.851C>T (p.Thr284Ile)
c.203C>T (p.Thr68Ile)
 gnomAD v4
4g.78865581A>CCA439976414BMP2Kc.1092A>C (p.Thr364=)
c.*68A>C (n.*68A>C)
c.169A>C
n.374A>C
c.852A>C (p.Thr284=)
c.204A>C (p.Thr68=)
4g.78865581A>GCA439976415BMP2Kc.1092A>G (p.Thr364=)
c.*68A>G (n.*68A>G)
c.169A>G
n.374A>G
c.852A>G (p.Thr284=)
c.204A>G (p.Thr68=)
 gnomAD v4
4g.78865581A>TCA439976417BMP2Kc.1092A>T (p.Thr364=)
c.*68A>T (n.*68A>T)
c.169A>T
n.374A>T
c.852A>T (p.Thr284=)
c.204A>T (p.Thr68=)
4g.78865582G>ACA357378449BMP2Kc.1093G>A (p.Glu365Lys)
c.*69G>A (n.*69G>A)
c.170G>A
n.375G>A
c.853G>A (p.Glu285Lys)
c.205G>A (p.Glu69Lys)
 gnomAD v4
4g.78865582G>CCA357378450BMP2Kc.1093G>C (p.Glu365Gln)
c.*69G>C (n.*69G>C)
c.170G>C
n.375G>C
c.853G>C (p.Glu285Gln)
c.205G>C (p.Glu69Gln)
4g.78865582G>TCA357378451BMP2Kc.1093G>T (p.Glu365Ter)
c.*69G>T (n.*69G>T)
c.170G>T
n.375G>T
c.853G>T (p.Glu285Ter)
c.205G>T (p.Glu69Ter)
4g.78865583A>CCA357378452BMP2Kc.1094A>C (p.Glu365Ala)
c.*70A>C (n.*70A>C)
c.171A>C
n.376A>C
c.854A>C (p.Glu285Ala)
c.206A>C (p.Glu69Ala)
4g.78865583A>GCA357378453BMP2Kc.1094A>G (p.Glu365Gly)
c.*70A>G (n.*70A>G)
c.171A>G
n.376A>G
c.854A>G (p.Glu285Gly)
c.206A>G (p.Glu69Gly)
4g.78865583A>TCA357378454BMP2Kc.1094A>T (p.Glu365Val)
c.*70A>T (n.*70A>T)
c.171A>T
n.376A>T
c.854A>T (p.Glu285Val)
c.206A>T (p.Glu69Val)
4g.78865584A>CCA357378455BMP2Kc.1095A>C (p.Glu365Asp)
c.*71A>C (n.*71A>C)
c.172A>C
n.377A>C
c.855A>C (p.Glu285Asp)
c.207A>C (p.Glu69Asp)
4g.78865584A>GCA439976421BMP2Kc.1095A>G (p.Glu365=)
c.*71A>G (n.*71A>G)
c.172A>G
n.377A>G
c.855A>G (p.Glu285=)
c.207A>G (p.Glu69=)
4g.78865584A>TCA357378456BMP2Kc.1095A>T (p.Glu365Asp)
c.*71A>T (n.*71A>T)
c.172A>T
n.377A>T
c.855A>T (p.Glu285Asp)
c.207A>T (p.Glu69Asp)
4g.78865585A>CCA357378457BMP2Kc.1096A>C (p.Thr366Pro)
c.*72A>C (n.*72A>C)
c.173A>C
n.378A>C
c.856A>C (p.Thr286Pro)
c.208A>C (p.Thr70Pro)
4g.78865585A>GCA357378459BMP2Kc.1096A>G (p.Thr366Ala)
c.*72A>G (n.*72A>G)
c.173A>G
n.378A>G
c.856A>G (p.Thr286Ala)
c.208A>G (p.Thr70Ala)
4g.78865585A>TCA357378458BMP2Kc.1096A>T (p.Thr366Ser)
c.*72A>T (n.*72A>T)
c.173A>T
n.378A>T
c.856A>T (p.Thr286Ser)
c.208A>T (p.Thr70Ser)
4g.78865586C>ACA357378460BMP2Kc.1097C>A (p.Thr366Asn)
c.*73C>A (n.*73C>A)
c.174C>A
n.379C>A
c.857C>A (p.Thr286Asn)
c.209C>A (p.Thr70Asn)
 gnomAD v4
4g.78865586C>GCA357378461BMP2Kc.1097C>G (p.Thr366Ser)
c.*73C>G (n.*73C>G)
c.174C>G
n.379C>G
c.857C>G (p.Thr286Ser)
c.209C>G (p.Thr70Ser)
4g.78865586C>TCA357378462BMP2Kc.1097C>T (p.Thr366Ile)
c.*73C>T (n.*73C>T)
c.174C>T
n.379C>T
c.857C>T (p.Thr286Ile)
c.209C>T (p.Thr70Ile)
4g.78865587C>ACA439976426BMP2Kc.1098C>A (p.Thr366=)
c.*74C>A (n.*74C>A)
c.175C>A
n.380C>A
c.858C>A (p.Thr286=)
c.210C>A (p.Thr70=)
4g.78865587C=CA1470731175BMP2Kc.1098C= (p.Thr366=)
c.*74C= (n.*74C=)
c.175C=
n.380C=
c.858C= (p.Thr286=)
c.210C= (p.Thr70=)
4g.78865587C>GCA439976427BMP2Kc.1098C>G (p.Thr366=)
c.*74C>G (n.*74C>G)
c.175C>G
n.380C>G
c.858C>G (p.Thr286=)
c.210C>G (p.Thr70=)
4g.78865587C>TCA99975124BMP2Kc.1098C>T (p.Thr366=)
c.*74C>T (n.*74C>T)
c.175C>T
n.380C>T
c.858C>T (p.Thr286=)
c.210C>T (p.Thr70=)
 dbSNP gnomAD v4
4g.78865588T>ACA357378463BMP2Kc.1099T>A (p.Ser367Thr)
c.*75T>A (n.*75T>A)
c.176T>A
n.381T>A
c.859T>A (p.Ser287Thr)
c.211T>A (p.Ser71Thr)
4g.78865588T>CCA357378465BMP2Kc.1099T>C (p.Ser367Pro)
c.*75T>C (n.*75T>C)
c.176T>C
n.381T>C
c.859T>C (p.Ser287Pro)
c.211T>C (p.Ser71Pro)
4g.78865588T>GCA357378464BMP2Kc.1099T>G (p.Ser367Ala)
c.*75T>G (n.*75T>G)
c.176T>G
n.381T>G
c.859T>G (p.Ser287Ala)
c.211T>G (p.Ser71Ala)
4g.78865589C>ACA357378466BMP2Kc.1100C>A (p.Ser367Ter)
c.*76C>A (n.*76C>A)
c.177C>A
n.382C>A
c.860C>A (p.Ser287Ter)
c.212C>A (p.Ser71Ter)
4g.78865589C>GCA357378467BMP2Kc.1100C>G (p.Ser367Ter)
c.*76C>G (n.*76C>G)
c.177C>G
n.382C>G
c.860C>G (p.Ser287Ter)
c.212C>G (p.Ser71Ter)
4g.78865589C>TCA357378468BMP2Kc.1100C>T (p.Ser367Leu)
c.*76C>T (n.*76C>T)
c.177C>T
n.382C>T
c.860C>T (p.Ser287Leu)
c.212C>T (p.Ser71Leu)
4g.78865590A>CCA439976433BMP2Kc.1101A>C (p.Ser367=)
c.*77A>C (n.*77A>C)
c.178A>C
n.383A>C
c.861A>C (p.Ser287=)
c.213A>C (p.Ser71=)
 gnomAD v4
4g.78865590A>GCA439976434BMP2Kc.1101A>G (p.Ser367=)
c.*77A>G (n.*77A>G)
c.178A>G
n.383A>G
c.861A>G (p.Ser287=)
c.213A>G (p.Ser71=)
4g.78865590A>TCA439976435BMP2Kc.1101A>T (p.Ser367=)
c.*77A>T (n.*77A>T)
c.178A>T
n.383A>T
c.861A>T (p.Ser287=)
c.213A>T (p.Ser71=)
4g.78865591A=CA1470731180BMP2Kc.1102A= (p.Ile368=)
c.*78A= (n.*78A=)
c.179A=
n.384A=
c.862A= (p.Ile288=)
c.214A= (p.Ile72=)
4g.78865591A>CCA357378469BMP2Kc.1102A>C (p.Ile368Leu)
c.*78A>C (n.*78A>C)
c.179A>C
n.384A>C
c.862A>C (p.Ile288Leu)
c.214A>C (p.Ile72Leu)
4g.78865591A>GCA2980195BMP2Kc.1102A>G (p.Ile368Val)
c.*78A>G (n.*78A>G)
c.179A>G
n.384A>G
c.862A>G (p.Ile288Val)
c.214A>G (p.Ile72Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865591A>TCA357378470BMP2Kc.1102A>T (p.Ile368Phe)
c.*78A>T (n.*78A>T)
c.179A>T
n.384A>T
c.862A>T (p.Ile288Phe)
c.214A>T (p.Ile72Phe)
4g.78865592T>ACA357378471BMP2Kc.1103T>A (p.Ile368Asn)
c.*79T>A (n.*79T>A)
c.180T>A
n.385T>A
c.863T>A (p.Ile288Asn)
c.215T>A (p.Ile72Asn)
4g.78865592T>CCA357378472BMP2Kc.1103T>C (p.Ile368Thr)
c.*79T>C (n.*79T>C)
c.180T>C
n.385T>C
c.863T>C (p.Ile288Thr)
c.215T>C (p.Ile72Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.78865592T>GCA357378473BMP2Kc.1103T>G (p.Ile368Ser)
c.*79T>G (n.*79T>G)
c.180T>G
n.385T>G
c.863T>G (p.Ile288Ser)
c.215T>G (p.Ile72Ser)
4g.78865592T=CA1470731191BMP2Kc.1103T= (p.Ile368=)
c.*79T= (n.*79T=)
c.180T=
n.385T=
c.863T= (p.Ile288=)
c.215T= (p.Ile72=)
4g.78865593dupCA2671157130BMP2Kc.1104dup (p.Ala369CysfsTer29)
c.*80dup (n.*80dup)
c.181dup
n.386dup
c.864dup (p.Ala289CysfsTer29)
c.216dup (p.Ala73CysfsTer29)
 gnomAD v4
4g.78865593T>ACA2980196BMP2Kc.1104T>A (p.Ile368=)
c.*80T>A (n.*80T>A)
c.181T>A
n.386T>A
c.864T>A (p.Ile288=)
c.216T>A (p.Ile72=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.78865593T>CCA439976437BMP2Kc.1104T>C (p.Ile368=)
c.*80T>C (n.*80T>C)
c.181T>C
n.386T>C
c.864T>C (p.Ile288=)
c.216T>C (p.Ile72=)
4g.78865593T>GCA357378474BMP2Kc.1104T>G (p.Ile368Met)
c.*80T>G (n.*80T>G)
c.181T>G
n.386T>G
c.864T>G (p.Ile288Met)
c.216T>G (p.Ile72Met)
 gnomAD v4
4g.78865593T=CA1470731193BMP2Kc.1104T= (p.Ile368=)
c.*80T= (n.*80T=)
c.181T=
n.386T=
c.864T= (p.Ile288=)
c.216T= (p.Ile72=)
4g.78865594G>ACA357378475BMP2Kc.1105G>A (p.Ala369Thr)
c.*81G>A (n.*81G>A)
c.182G>A
n.387G>A
c.865G>A (p.Ala289Thr)
c.217G>A (p.Ala73Thr)
4g.78865594G>CCA357378477BMP2Kc.1105G>C (p.Ala369Pro)
c.*81G>C (n.*81G>C)
c.182G>C
n.387G>C
c.865G>C (p.Ala289Pro)
c.217G>C (p.Ala73Pro)
4g.78865594G>TCA357378476BMP2Kc.1105G>T (p.Ala369Ser)
c.*81G>T (n.*81G>T)
c.182G>T
n.387G>T
c.865G>T (p.Ala289Ser)
c.217G>T (p.Ala73Ser)
4g.78865595C>ACA357378478BMP2Kc.1106C>A (p.Ala369Glu)
c.*82C>A (n.*82C>A)
c.183C>A
n.388C>A
c.866C>A (p.Ala289Glu)
c.218C>A (p.Ala73Glu)
4g.78865595C>GCA357378479BMP2Kc.1106C>G (p.Ala369Gly)
c.*82C>G (n.*82C>G)
c.183C>G
n.388C>G
c.866C>G (p.Ala289Gly)
c.218C>G (p.Ala73Gly)
4g.78865595C>TCA357378480BMP2Kc.1106C>T (p.Ala369Val)
c.*82C>T (n.*82C>T)
c.183C>T
n.388C>T
c.866C>T (p.Ala289Val)
c.218C>T (p.Ala73Val)
 gnomAD v4
4g.78865596A>CCA439976439BMP2Kc.1107A>C (p.Ala369=)
c.*83A>C (n.*83A>C)
c.184A>C
n.389A>C
c.867A>C (p.Ala289=)
c.219A>C (p.Ala73=)
4g.78865596A>GCA439976441BMP2Kc.1107A>G (p.Ala369=)
c.*83A>G (n.*83A>G)
c.184A>G
n.389A>G
c.867A>G (p.Ala289=)
c.219A>G (p.Ala73=)
4g.78865596A>TCA439976440BMP2Kc.1107A>T (p.Ala369=)
c.*83A>T (n.*83A>T)
c.184A>T
n.389A>T
c.867A>T (p.Ala289=)
c.219A>T (p.Ala73=)
4g.78865597C>ACA357378481BMP2Kc.1108C>A (p.Pro370Thr)
c.*84C>A (n.*84C>A)
c.185C>A
n.390C>A
c.868C>A (p.Pro290Thr)
c.220C>A (p.Pro74Thr)
4g.78865597C>GCA357378482BMP2Kc.1108C>G (p.Pro370Ala)
c.*84C>G (n.*84C>G)
c.185C>G
n.390C>G
c.868C>G (p.Pro290Ala)
c.220C>G (p.Pro74Ala)
4g.78865597C>TCA357378483BMP2Kc.1108C>T (p.Pro370Ser)
c.*84C>T (n.*84C>T)
c.185C>T
n.390C>T
c.868C>T (p.Pro290Ser)
c.220C>T (p.Pro74Ser)
4g.78865598C>ACA357378484BMP2Kc.1109C>A (p.Pro370Gln)
c.*85C>A (n.*85C>A)
c.186C>A
n.391C>A
c.869C>A (p.Pro290Gln)
c.221C>A (p.Pro74Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.78865598C=CA1470731197BMP2Kc.1109C= (p.Pro370=)
c.*85C= (n.*85C=)
c.186C=
n.391C=
c.869C= (p.Pro290=)
c.221C= (p.Pro74=)
4g.78865598C>GCA357378485BMP2Kc.1109C>G (p.Pro370Arg)
c.*85C>G (n.*85C>G)
c.186C>G
n.391C>G
c.869C>G (p.Pro290Arg)
c.221C>G (p.Pro74Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.78865598C>TCA357378486BMP2Kc.1109C>T (p.Pro370Leu)
c.*85C>T (n.*85C>T)
c.186C>T
n.391C>T
c.869C>T (p.Pro290Leu)
c.221C>T (p.Pro74Leu)
4g.78865599A=CA1470731200BMP2Kc.1110A= (p.Pro370=)
c.*86A= (n.*86A=)
c.187A=
n.392A=
c.870A= (p.Pro290=)
c.222A= (p.Pro74=)
4g.78865599A>CCA439976447BMP2Kc.1110A>C (p.Pro370=)
c.*86A>C (n.*86A>C)
c.187A>C
n.392A>C
c.870A>C (p.Pro290=)
c.222A>C (p.Pro74=)
4g.78865599A>GCA2980197BMP2Kc.1110A>G (p.Pro370=)
c.*86A>G (n.*86A>G)
c.187A>G
n.392A>G
c.870A>G (p.Pro290=)
c.222A>G (p.Pro74=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865599A>TCA439976448BMP2Kc.1110A>T (p.Pro370=)
c.*86A>T (n.*86A>T)
c.187A>T
n.392A>T
c.870A>T (p.Pro290=)
c.222A>T (p.Pro74=)
4g.78865600A>CCA439976449BMP2Kc.1111A>C (p.Arg371=)
c.*87A>C (n.*87A>C)
c.188A>C
n.393A>C
c.871A>C (p.Arg291=)
c.223A>C (p.Arg75=)
4g.78865600A>GCA357378487BMP2Kc.1111A>G (p.Arg371Gly)
c.*87A>G (n.*87A>G)
c.188A>G
n.393A>G
c.871A>G (p.Arg291Gly)
c.223A>G (p.Arg75Gly)
4g.78865600A>TCA357378488BMP2Kc.1111A>T (p.Arg371Ter)
c.*87A>T (n.*87A>T)
c.188A>T
n.393A>T
c.871A>T (p.Arg291Ter)
c.223A>T (p.Arg75Ter)
4g.78865601G>ACA357378491BMP2Kc.1112G>A (p.Arg371Lys)
c.*88G>A (n.*88G>A)
c.189G>A
n.394G>A
c.872G>A (p.Arg291Lys)
c.224G>A (p.Arg75Lys)
 COSMIC COSMIC
4g.78865601G>CCA357378489BMP2Kc.1112G>C (p.Arg371Thr)
c.*88G>C (n.*88G>C)
c.189G>C
n.394G>C
c.872G>C (p.Arg291Thr)
c.224G>C (p.Arg75Thr)
4g.78865601G>TCA357378490BMP2Kc.1112G>T (p.Arg371Ile)
c.*88G>T (n.*88G>T)
c.189G>T
n.394G>T
c.872G>T (p.Arg291Ile)
c.224G>T (p.Arg75Ile)
4g.78865602A>CCA357378492BMP2Kc.1113A>C (p.Arg371Ser)
c.*89A>C (n.*89A>C)
c.190A>C
n.395A>C
c.873A>C (p.Arg291Ser)
c.225A>C (p.Arg75Ser)
4g.78865602A>GCA439976454BMP2Kc.1113A>G (p.Arg371=)
c.*89A>G (n.*89A>G)
c.190A>G
n.395A>G
c.873A>G (p.Arg291=)
c.225A>G (p.Arg75=)
4g.78865602A>TCA357378493BMP2Kc.1113A>T (p.Arg371Ser)
c.*89A>T (n.*89A>T)
c.190A>T
n.395A>T
c.873A>T (p.Arg291Ser)
c.225A>T (p.Arg75Ser)
4g.78865603C>ACA357378494BMP2Kc.1114C>A (p.Gln372Lys)
c.*90C>A (n.*90C>A)
c.191C>A
n.396C>A
c.874C>A (p.Gln292Lys)
c.226C>A (p.Gln76Lys)
4g.78865603C>GCA357378495BMP2Kc.1114C>G (p.Gln372Glu)
c.*90C>G (n.*90C>G)
c.191C>G
n.396C>G
c.874C>G (p.Gln292Glu)
c.226C>G (p.Gln76Glu)
4g.78865603C>TCA357378496BMP2Kc.1114C>T (p.Gln372Ter)
c.*90C>T (n.*90C>T)
c.191C>T
n.396C>T
c.874C>T (p.Gln292Ter)
c.226C>T (p.Gln76Ter)
4g.78865604A>CCA357378497BMP2Kc.1115A>C (p.Gln372Pro)
c.*91A>C (n.*91A>C)
c.192A>C
n.397A>C
c.875A>C (p.Gln292Pro)
c.227A>C (p.Gln76Pro)
4g.78865604A>GCA357378498BMP2Kc.1115A>G (p.Gln372Arg)
c.*91A>G (n.*91A>G)
c.192A>G
n.397A>G
c.875A>G (p.Gln292Arg)
c.227A>G (p.Gln76Arg)
4g.78865604A>TCA357378499BMP2Kc.1115A>T (p.Gln372Leu)
c.*91A>T (n.*91A>T)
c.192A>T
n.397A>T
c.875A>T (p.Gln292Leu)
c.227A>T (p.Gln76Leu)
4g.78865605A=CA1470731201BMP2Kc.1116A= (p.Gln372=)
c.*92A= (n.*92A=)
c.193A=
n.398A=
c.876A= (p.Gln292=)
c.228A= (p.Gln76=)
4g.78865605A>CCA357378500BMP2Kc.1116A>C (p.Gln372His)
c.*92A>C (n.*92A>C)
c.193A>C
n.398A>C
c.876A>C (p.Gln292His)
c.228A>C (p.Gln76His)
4g.78865605A>GCA439976459BMP2Kc.1116A>G (p.Gln372=)
c.*92A>G (n.*92A>G)
c.193A>G
n.398A>G
c.876A>G (p.Gln292=)
c.228A>G (p.Gln76=)
 dbSNP gnomAD v4
4g.78865605A>TCA357378501BMP2Kc.1116A>T (p.Gln372His)
c.*92A>T (n.*92A>T)
c.193A>T
n.398A>T
c.876A>T (p.Gln292His)
c.228A>T (p.Gln76His)
4g.78865606A>CCA439976460BMP2Kc.1117A>C (p.Arg373=)
c.*93A>C (n.*93A>C)
c.194A>C
n.399A>C
c.877A>C (p.Arg293=)
c.229A>C (p.Arg77=)
4g.78865606A>GCA357378502BMP2Kc.1117A>G (p.Arg373Gly)
c.*93A>G (n.*93A>G)
c.194A>G
n.399A>G
c.877A>G (p.Arg293Gly)
c.229A>G (p.Arg77Gly)
4g.78865606A>TCA357378503BMP2Kc.1117A>T (p.Arg373Ter)
c.*93A>T (n.*93A>T)
c.194A>T
n.399A>T
c.877A>T (p.Arg293Ter)
c.229A>T (p.Arg77Ter)
4g.78865607G>ACA357378506BMP2Kc.1118G>A (p.Arg373Lys)
c.*94G>A (n.*94G>A)
c.195G>A
n.400G>A
c.878G>A (p.Arg293Lys)
c.230G>A (p.Arg77Lys)
4g.78865607G>CCA357378505BMP2Kc.1118G>C (p.Arg373Thr)
c.*94G>C (n.*94G>C)
c.195G>C
n.400G>C
c.878G>C (p.Arg293Thr)
c.230G>C (p.Arg77Thr)
 gnomAD v4
4g.78865607G>TCA357378504BMP2Kc.1118G>T (p.Arg373Ile)
c.*94G>T (n.*94G>T)
c.195G>T
n.400G>T
c.878G>T (p.Arg293Ile)
c.230G>T (p.Arg77Ile)
4g.78865608A=CA1470731205BMP2Kc.1119A= (p.Arg373=)
c.*95A= (n.*95A=)
c.196A=
n.401A=
c.879A= (p.Arg293=)
c.231A= (p.Arg77=)
4g.78865608A>CCA357378508BMP2Kc.1119A>C (p.Arg373Ser)
c.*95A>C (n.*95A>C)
c.196A>C
n.401A>C
c.879A>C (p.Arg293Ser)
c.231A>C (p.Arg77Ser)
4g.78865608A>GCA439976463BMP2Kc.1119A>G (p.Arg373=)
c.*95A>G (n.*95A>G)
c.196A>G
n.401A>G
c.879A>G (p.Arg293=)
c.231A>G (p.Arg77=)
 dbSNP gnomAD v2 gnomAD v4
4g.78865608A>TCA357378507BMP2Kc.1119A>T (p.Arg373Ser)
c.*95A>T (n.*95A>T)
c.196A>T
n.401A>T
c.879A>T (p.Arg293Ser)
c.231A>T (p.Arg77Ser)
 gnomAD v4
4g.78865609C>ACA357378509BMP2Kc.1120C>A (p.Pro374Thr)
c.*96C>A (n.*96C>A)
c.197C>A
n.402C>A
c.880C>A (p.Pro294Thr)
c.232C>A (p.Pro78Thr)
4g.78865609C>GCA357378510BMP2Kc.1120C>G (p.Pro374Ala)
c.*96C>G (n.*96C>G)
c.197C>G
n.402C>G
c.880C>G (p.Pro294Ala)
c.232C>G (p.Pro78Ala)
4g.78865609C>TCA357378511BMP2Kc.1120C>T (p.Pro374Ser)
c.*96C>T (n.*96C>T)
c.197C>T
n.402C>T
c.880C>T (p.Pro294Ser)
c.232C>T (p.Pro78Ser)
 gnomAD v4
4g.78865610C>ACA357378512BMP2Kc.1121C>A (p.Pro374Gln)
c.*97C>A (n.*97C>A)
c.198C>A
n.403C>A
c.881C>A (p.Pro294Gln)
c.233C>A (p.Pro78Gln)
4g.78865610C>GCA357378513BMP2Kc.1121C>G (p.Pro374Arg)
c.*97C>G (n.*97C>G)
c.198C>G
n.403C>G
c.881C>G (p.Pro294Arg)
c.233C>G (p.Pro78Arg)
4g.78865610C>TCA357378514BMP2Kc.1121C>T (p.Pro374Leu)
c.*97C>T (n.*97C>T)
c.198C>T
n.403C>T
c.881C>T (p.Pro294Leu)
c.233C>T (p.Pro78Leu)
4g.78865611A=CA1470731207BMP2Kc.1122A= (p.Pro374=)
c.*98A= (n.*98A=)
c.199A=
n.404A=
c.882A= (p.Pro294=)
c.234A= (p.Pro78=)
4g.78865611A>CCA439976468BMP2Kc.1122A>C (p.Pro374=)
c.*98A>C (n.*98A>C)
c.199A>C
n.404A>C
c.882A>C (p.Pro294=)
c.234A>C (p.Pro78=)
4g.78865611A>GCA2980198BMP2Kc.1122A>G (p.Pro374=)
c.*98A>G (n.*98A>G)
c.199A>G
n.404A>G
c.882A>G (p.Pro294=)
c.234A>G (p.Pro78=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.78865611A>TCA439976469BMP2Kc.1122A>T (p.Pro374=)
c.*98A>T (n.*98A>T)
c.199A>T
n.404A>T
c.882A>T (p.Pro294=)
c.234A>T (p.Pro78=)
4g.78865612A>CCA357378515BMP2Kc.1123A>C (p.Lys375Gln)
c.*99A>C (n.*99A>C)
c.200A>C
n.405A>C
c.883A>C (p.Lys295Gln)
c.235A>C (p.Lys79Gln)
4g.78865612A>GCA357378517BMP2Kc.1123A>G (p.Lys375Glu)
c.*99A>G (n.*99A>G)
c.200A>G
n.405A>G
c.883A>G (p.Lys295Glu)
c.235A>G (p.Lys79Glu)
 gnomAD v4
4g.78865612A>TCA357378516BMP2Kc.1123A>T (p.Lys375Ter)
c.*99A>T (n.*99A>T)
c.200A>T
n.405A>T
c.883A>T (p.Lys295Ter)
c.235A>T (p.Lys79Ter)
4g.78865613A=CA1470731210BMP2Kc.1124A= (p.Lys375=)
c.*100A= (n.*100A=)
c.201A=
n.406A=
c.884A= (p.Lys295=)
c.236A= (p.Lys79=)
4g.78865613A>CCA357378518BMP2Kc.1124A>C (p.Lys375Thr)
c.*100A>C (n.*100A>C)
c.201A>C
n.406A>C
c.884A>C (p.Lys295Thr)
c.236A>C (p.Lys79Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.78865613A>GCA357378519BMP2Kc.1124A>G (p.Lys375Arg)
c.*100A>G (n.*100A>G)
c.201A>G
n.406A>G
c.884A>G (p.Lys295Arg)
c.236A>G (p.Lys79Arg)
4g.78865613A>TCA357378520BMP2Kc.1124A>T (p.Lys375Met)
c.*100A>T (n.*100A>T)
c.201A>T
n.406A>T
c.884A>T (p.Lys295Met)
c.236A>T (p.Lys79Met)
4g.78865614G>ACA439976471BMP2Kc.1125G>A (p.Lys375=)
c.*101G>A (n.*101G>A)
c.202G>A
n.407G>A
c.885G>A (p.Lys295=)
c.237G>A (p.Lys79=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.78865614G>CCA357378521BMP2Kc.1125G>C (p.Lys375Asn)
c.*101G>C (n.*101G>C)
c.202G>C
n.407G>C
c.885G>C (p.Lys295Asn)
c.237G>C (p.Lys79Asn)
4g.78865614G=CA1470731216BMP2Kc.1125G= (p.Lys375=)
c.*101G= (n.*101G=)
c.202G=
n.407G=
c.885G= (p.Lys295=)
c.237G= (p.Lys79=)
4g.78865614G>TCA357378522BMP2Kc.1125G>T (p.Lys375Asn)
c.*101G>T (n.*101G>T)
c.202G>T
n.407G>T
c.885G>T (p.Lys295Asn)
c.237G>T (p.Lys79Asn)
4g.78865615G>ACA357378523BMP2Kc.1126G>A (p.Ala376Thr)
c.*102G>A (n.*102G>A)
c.203G>A
n.408G>A
c.886G>A (p.Ala296Thr)
c.238G>A (p.Ala80Thr)
4g.78865615G>CCA357378525BMP2Kc.1126G>C (p.Ala376Pro)
c.*102G>C (n.*102G>C)
c.203G>C
n.408G>C
c.886G>C (p.Ala296Pro)
c.238G>C (p.Ala80Pro)
4g.78865615G>TCA357378524BMP2Kc.1126G>T (p.Ala376Ser)
c.*102G>T (n.*102G>T)
c.203G>T
n.408G>T
c.886G>T (p.Ala296Ser)
c.238G>T (p.Ala80Ser)
4g.78865616C>ACA2980199BMP2Kc.1127C>A (p.Ala376Asp)
c.*103C>A (n.*103C>A)
c.204C>A
n.409C>A
c.887C>A (p.Ala296Asp)
c.239C>A (p.Ala80Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.78865616C=CA1470731222BMP2Kc.1127C= (p.Ala376=)
c.*103C= (n.*103C=)
c.204C=
n.409C=
c.887C= (p.Ala296=)
c.239C= (p.Ala80=)
4g.78865616C>GCA99975151BMP2Kc.1127C>G (p.Ala376Gly)
c.*103C>G (n.*103C>G)
c.204C>G
n.409C>G
c.887C>G (p.Ala296Gly)
c.239C>G (p.Ala80Gly)
 dbSNP gnomAD v4
4g.78865616C>TCA357378526BMP2Kc.1127C>T (p.Ala376Val)
c.*103C>T (n.*103C>T)
c.204C>T
n.409C>T
c.887C>T (p.Ala296Val)
c.239C>T (p.Ala80Val)
4g.78865617C>ACA439976478BMP2Kc.1128C>A (p.Ala376=)
c.*104C>A (n.*104C>A)
c.205C>A
n.410C>A
c.888C>A (p.Ala296=)
c.240C>A (p.Ala80=)
4g.78865617C=CA1470731223BMP2Kc.1128C= (p.Ala376=)
c.*104C= (n.*104C=)
c.205C=
n.410C=
c.888C= (p.Ala296=)
c.240C= (p.Ala80=)
4g.78865617C>GCA439976480BMP2Kc.1128C>G (p.Ala376=)
c.*104C>G (n.*104C>G)
c.205C>G
n.410C>G
c.888C>G (p.Ala296=)
c.240C>G (p.Ala80=)
 dbSNP gnomAD v2
4g.78865617C>TCA439976482BMP2Kc.1128C>T (p.Ala376=)
c.*104C>T (n.*104C>T)
c.205C>T
n.410C>T
c.888C>T (p.Ala296=)
c.240C>T (p.Ala80=)
4g.78865618A=CA1470731225BMP2Kc.1129A= (p.Asn377=)
c.*105A= (n.*105A=)
c.206A=
n.411A=
c.889A= (p.Asn297=)
c.241A= (p.Asn81=)
4g.78865618A>CCA357378527BMP2Kc.1129A>C (p.Asn377His)
c.*105A>C (n.*105A>C)
c.206A>C
n.411A>C
c.889A>C (p.Asn297His)
c.241A>C (p.Asn81His)
 dbSNP
4g.78865618A>GCA357378528BMP2Kc.1129A>G (p.Asn377Asp)
c.*105A>G (n.*105A>G)
c.206A>G
n.411A>G
c.889A>G (p.Asn297Asp)
c.241A>G (p.Asn81Asp)
 gnomAD v4
4g.78865618A>TCA357378529BMP2Kc.1129A>T (p.Asn377Tyr)
c.*105A>T (n.*105A>T)
c.206A>T
n.411A>T
c.889A>T (p.Asn297Tyr)
c.241A>T (p.Asn81Tyr)
4g.78865619A=CA1470731228BMP2Kc.1130A= (p.Asn377=)
c.*106A= (n.*106A=)
c.207A=
n.412A=
c.890A= (p.Asn297=)
c.242A= (p.Asn81=)
4g.78865619A>CCA357378530BMP2Kc.1130A>C (p.Asn377Thr)
c.*106A>C (n.*106A>C)
c.207A>C
n.412A>C
c.890A>C (p.Asn297Thr)
c.242A>C (p.Asn81Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.78865619A>GCA2980200BMP2Kc.1130A>G (p.Asn377Ser)
c.*106A>G (n.*106A>G)
c.207A>G
n.412A>G
c.890A>G (p.Asn297Ser)
c.242A>G (p.Asn81Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.78865619A>TCA357378531BMP2Kc.1130A>T (p.Asn377Ile)
c.*106A>T (n.*106A>T)
c.207A>T
n.412A>T
c.890A>T (p.Asn297Ile)
c.242A>T (p.Asn81Ile)
4g.78865620C>ACA357378532BMP2Kc.1131C>A (p.Asn377Lys)
c.*107C>A (n.*107C>A)
c.208C>A
n.413C>A
c.891C>A (p.Asn297Lys)
c.243C>A (p.Asn81Lys)
4g.78865620C=CA1470731232BMP2Kc.1131C= (p.Asn377=)
c.*107C= (n.*107C=)
c.208C=
n.413C=
c.891C= (p.Asn297=)
c.243C= (p.Asn81=)
4g.78865620C>GCA357378533BMP2Kc.1131C>G (p.Asn377Lys)
c.*107C>G (n.*107C>G)
c.208C>G
n.413C>G
c.891C>G (p.Asn297Lys)
c.243C>G (p.Asn81Lys)
4g.78865620C>TCA2980201BMP2Kc.1131C>T (p.Asn377=)
c.*107C>T (n.*107C>T)
c.208C>T
n.413C>T
c.891C>T (p.Asn297=)
c.243C>T (p.Asn81=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.78865621T>ACA357378534BMP2Kc.1132T>A (p.Ser378Thr)
c.*108T>A (n.*108T>A)
c.209T>A
n.414T>A
c.892T>A (p.Ser298Thr)
c.244T>A (p.Ser82Thr)
4g.78865621T>CCA357378536BMP2Kc.1132T>C (p.Ser378Pro)
c.*108T>C (n.*108T>C)
c.209T>C
n.414T>C
c.892T>C (p.Ser298Pro)
c.244T>C (p.Ser82Pro)
4g.78865621T>GCA357378535BMP2Kc.1132T>G (p.Ser378Ala)
c.*108T>G (n.*108T>G)
c.209T>G
n.414T>G
c.892T>G (p.Ser298Ala)
c.244T>G (p.Ser82Ala)
4g.78865622C>ACA357378537BMP2Kc.1133C>A (p.Ser378Tyr)
c.*109C>A (n.*109C>A)
c.210C>A
n.415C>A
c.893C>A (p.Ser298Tyr)
c.245C>A (p.Ser82Tyr)
4g.78865622C>GCA357378538BMP2Kc.1133C>G (p.Ser378Cys)
c.*109C>G (n.*109C>G)
c.210C>G
n.415C>G
c.893C>G (p.Ser298Cys)
c.245C>G (p.Ser82Cys)
4g.78865622C>TCA357378539BMP2Kc.1133C>T (p.Ser378Phe)
c.*109C>T (n.*109C>T)
c.210C>T
n.415C>T
c.893C>T (p.Ser298Phe)
c.245C>T (p.Ser82Phe)
4g.78865623T>ACA439976488BMP2Kc.1134T>A (p.Ser378=)
c.*110T>A (n.*110T>A)
c.211T>A
n.416T>A
c.894T>A (p.Ser298=)
c.246T>A (p.Ser82=)
4g.78865623T>CCA439976489BMP2Kc.1134T>C (p.Ser378=)
c.*110T>C (n.*110T>C)
c.211T>C
n.416T>C
c.894T>C (p.Ser298=)
c.246T>C (p.Ser82=)
4g.78865623T>GCA439976491BMP2Kc.1134T>G (p.Ser378=)
c.*110T>G (n.*110T>G)
c.211T>G
n.416T>G
c.894T>G (p.Ser298=)
c.246T>G (p.Ser82=)
4g.78865624G>ACA357378540BMP2Kc.1135G>A (p.Ala379Thr)
c.*111G>A (n.*111G>A)
c.212G>A
n.417G>A
c.895G>A (p.Ala299Thr)
c.247G>A (p.Ala83Thr)
4g.78865624G>CCA357378541BMP2Kc.1135G>C (p.Ala379Pro)
c.*111G>C (n.*111G>C)
c.212G>C
n.417G>C
c.895G>C (p.Ala299Pro)
c.247G>C (p.Ala83Pro)
 dbSNP gnomAD v4
4g.78865624G=CA1470731236BMP2Kc.1135G= (p.Ala379=)
c.*111G= (n.*111G=)
c.212G=
n.417G=
c.895G= (p.Ala299=)
c.247G= (p.Ala83=)
4g.78865624G>TCA357378542BMP2Kc.1135G>T (p.Ala379Ser)
c.*111G>T (n.*111G>T)
c.212G>T
n.417G>T
c.895G>T (p.Ala299Ser)
c.247G>T (p.Ala83Ser)
4g.78865625C>ACA357378543BMP2Kc.1136C>A (p.Ala379Asp)
c.*112C>A (n.*112C>A)
c.213C>A
n.418C>A
c.896C>A (p.Ala299Asp)
c.248C>A (p.Ala83Asp)
4g.78865625C=CA1470731248BMP2Kc.1136C= (p.Ala379=)
c.*112C= (n.*112C=)
c.213C=
n.418C=
c.896C= (p.Ala299=)
c.248C= (p.Ala83=)
4g.78865625C>GCA357378544BMP2Kc.1136C>G (p.Ala379Gly)
c.*112C>G (n.*112C>G)
c.213C>G
n.418C>G
c.896C>G (p.Ala299Gly)
c.248C>G (p.Ala83Gly)
4g.78865625C>TCA357378545BMP2Kc.1136C>T (p.Ala379Val)
c.*112C>T (n.*112C>T)
c.213C>T
n.418C>T
c.896C>T (p.Ala299Val)
c.248C>T (p.Ala83Val)
 dbSNP gnomAD v3 gnomAD v4
4g.78865626T>ACA439976493BMP2Kc.1137T>A (p.Ala379=)
c.*113T>A (n.*113T>A)
c.214T>A
n.419T>A
c.897T>A (p.Ala299=)
c.249T>A (p.Ala83=)
4g.78865626T>CCA439976494BMP2Kc.1137T>C (p.Ala379=)
c.*113T>C (n.*113T>C)
c.214T>C
n.419T>C
c.897T>C (p.Ala299=)
c.249T>C (p.Ala83=)
 dbSNP gnomAD v3 gnomAD v4
4g.78865626T>GCA439976497BMP2Kc.1137T>G (p.Ala379=)
c.*113T>G (n.*113T>G)
c.214T>G
n.419T>G
c.897T>G (p.Ala299=)
c.249T>G (p.Ala83=)
4g.78865626T=CA1470731252BMP2Kc.1137T= (p.Ala379=)
c.*113T= (n.*113T=)
c.214T=
n.419T=
c.897T= (p.Ala299=)
c.249T= (p.Ala83=)
4g.78865627A=CA1470731255BMP2Kc.1138A= (p.Thr380=)
c.*114A= (n.*114A=)
c.215A=
n.420A=
c.898A= (p.Thr300=)
c.250A= (p.Thr84=)
4g.78865627A>CCA357378546BMP2Kc.1138A>C (p.Thr380Pro)
c.*114A>C (n.*114A>C)
c.215A>C
n.420A>C
c.898A>C (p.Thr300Pro)
c.250A>C (p.Thr84Pro)
4g.78865627A>GCA2980202BMP2Kc.1138A>G (p.Thr380Ala)
c.*114A>G (n.*114A>G)
c.215A>G
n.420A>G
c.898A>G (p.Thr300Ala)
c.250A>G (p.Thr84Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865627A>TCA357378547BMP2Kc.1138A>T (p.Thr380Ser)
c.*114A>T (n.*114A>T)
c.215A>T
n.420A>T
c.898A>T (p.Thr300Ser)
c.250A>T (p.Thr84Ser)
4g.78865628C>ACA357378549BMP2Kc.1139C>A (p.Thr380Asn)
c.*115C>A (n.*115C>A)
c.216C>A
n.421C>A
c.899C>A (p.Thr300Asn)
c.251C>A (p.Thr84Asn)
4g.78865628C>GCA357378550BMP2Kc.1139C>G (p.Thr380Ser)
c.*115C>G (n.*115C>G)
c.216C>G
n.421C>G
c.899C>G (p.Thr300Ser)
c.251C>G (p.Thr84Ser)
4g.78865628C>TCA357378548BMP2Kc.1139C>T (p.Thr380Ile)
c.*115C>T (n.*115C>T)
c.216C>T
n.421C>T
c.899C>T (p.Thr300Ile)
c.251C>T (p.Thr84Ile)
 gnomAD v4
4g.78865629T>ACA439976504BMP2Kc.1140T>A (p.Thr380=)
c.*116T>A (n.*116T>A)
c.217T>A
n.422T>A
c.900T>A (p.Thr300=)
c.252T>A (p.Thr84=)
4g.78865629T>CCA439976506BMP2Kc.1140T>C (p.Thr380=)
c.*116T>C (n.*116T>C)
c.217T>C
n.422T>C
c.900T>C (p.Thr300=)
c.252T>C (p.Thr84=)
 COSMIC COSMIC
4g.78865629T>GCA439976502BMP2Kc.1140T>G (p.Thr380=)
c.*116T>G (n.*116T>G)
c.217T>G
n.422T>G
c.900T>G (p.Thr300=)
c.252T>G (p.Thr84=)
4g.78865630A=CA1470731261BMP2Kc.1141A= (p.Thr381=)
c.*117A= (n.*117A=)
c.218A=
n.423A=
c.901A= (p.Thr301=)
c.253A= (p.Thr85=)
4g.78865630A>CCA357378551BMP2Kc.1141A>C (p.Thr381Pro)
c.*117A>C (n.*117A>C)
c.218A>C
n.423A>C
c.901A>C (p.Thr301Pro)
c.253A>C (p.Thr85Pro)
 dbSNP
4g.78865630A>GCA357378552BMP2Kc.1141A>G (p.Thr381Ala)
c.*117A>G (n.*117A>G)
c.218A>G
n.423A>G
c.901A>G (p.Thr301Ala)
c.253A>G (p.Thr85Ala)
 gnomAD v4
4g.78865630A>TCA357378553BMP2Kc.1141A>T (p.Thr381Ser)
c.*117A>T (n.*117A>T)
c.218A>T
n.423A>T
c.901A>T (p.Thr301Ser)
c.253A>T (p.Thr85Ser)
 gnomAD v4
4g.78865631C>ACA357378554BMP2Kc.1142C>A (p.Thr381Asn)
c.*118C>A (n.*118C>A)
c.219C>A
n.424C>A
c.902C>A (p.Thr301Asn)
c.254C>A (p.Thr85Asn)
4g.78865631C>GCA357378555BMP2Kc.1142C>G (p.Thr381Ser)
c.*118C>G (n.*118C>G)
c.219C>G
n.424C>G
c.902C>G (p.Thr301Ser)
c.254C>G (p.Thr85Ser)
 COSMIC COSMIC
4g.78865631C>TCA357378556BMP2Kc.1142C>T (p.Thr381Ile)
c.*118C>T (n.*118C>T)
c.219C>T
n.424C>T
c.902C>T (p.Thr301Ile)
c.254C>T (p.Thr85Ile)
4g.78865632T>ACA439976511BMP2Kc.1143T>A (p.Thr381=)
c.*119T>A (n.*119T>A)
c.220T>A
n.425T>A
c.903T>A (p.Thr301=)
c.255T>A (p.Thr85=)
4g.78865632T>CCA439976512BMP2Kc.1143T>C (p.Thr381=)
c.*119T>C (n.*119T>C)
c.220T>C
n.425T>C
c.903T>C (p.Thr301=)
c.255T>C (p.Thr85=)
4g.78865632T>GCA2980203BMP2Kc.1143T>G (p.Thr381=)
c.*119T>G (n.*119T>G)
c.220T>G
n.425T>G
c.903T>G (p.Thr301=)
c.255T>G (p.Thr85=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865632T=CA1470731265BMP2Kc.1143T= (p.Thr381=)
c.*119T= (n.*119T=)
c.220T=
n.425T=
c.903T= (p.Thr301=)
c.255T= (p.Thr85=)
4g.78865633G>ACA357378557BMP2Kc.1144G>A (p.Ala382Thr)
c.*120G>A (n.*120G>A)
c.221G>A
n.426G>A
c.904G>A (p.Ala302Thr)
c.256G>A (p.Ala86Thr)
4g.78865633G>CCA357378558BMP2Kc.1144G>C (p.Ala382Pro)
c.*120G>C (n.*120G>C)
c.221G>C
n.426G>C
c.904G>C (p.Ala302Pro)
c.256G>C (p.Ala86Pro)
4g.78865633G>TCA357378559BMP2Kc.1144G>T (p.Ala382Ser)
c.*120G>T (n.*120G>T)
c.221G>T
n.426G>T
c.904G>T (p.Ala302Ser)
c.256G>T (p.Ala86Ser)
4g.78865634C>ACA357378560BMP2Kc.1145C>A (p.Ala382Asp)
c.*121C>A (n.*121C>A)
c.222C>A
n.427C>A
c.905C>A (p.Ala302Asp)
c.257C>A (p.Ala86Asp)
4g.78865634C>GCA357378561BMP2Kc.1145C>G (p.Ala382Gly)
c.*121C>G (n.*121C>G)
c.222C>G
n.427C>G
c.905C>G (p.Ala302Gly)
c.257C>G (p.Ala86Gly)
4g.78865634C>TCA357378562BMP2Kc.1145C>T (p.Ala382Val)
c.*121C>T (n.*121C>T)
c.222C>T
n.427C>T
c.905C>T (p.Ala302Val)
c.257C>T (p.Ala86Val)
4g.78865635C>ACA439976520BMP2Kc.1146C>A (p.Ala382=)
c.*122C>A (n.*122C>A)
c.223C>A
n.428C>A
c.906C>A (p.Ala302=)
c.258C>A (p.Ala86=)
4g.78865635C>GCA439976521BMP2Kc.1146C>G (p.Ala382=)
c.*122C>G (n.*122C>G)
c.223C>G
n.428C>G
c.906C>G (p.Ala302=)
c.258C>G (p.Ala86=)
4g.78865635C>TCA439976522BMP2Kc.1146C>T (p.Ala382=)
c.*122C>T (n.*122C>T)
c.223C>T
n.428C>T
c.906C>T (p.Ala302=)
c.258C>T (p.Ala86=)
4g.78865636A=CA1470731271BMP2Kc.1147A= (p.Thr383=)
c.*123A= (n.*123A=)
c.224A=
n.429A=
c.907A= (p.Thr303=)
c.259A= (p.Thr87=)
4g.78865636A>CCA357378565BMP2Kc.1147A>C (p.Thr383Pro)
c.*123A>C (n.*123A>C)
c.224A>C
n.429A>C
c.907A>C (p.Thr303Pro)
c.259A>C (p.Thr87Pro)
4g.78865636A>GCA357378563BMP2Kc.1147A>G (p.Thr383Ala)
c.*123A>G (n.*123A>G)
c.224A>G
n.429A>G
c.907A>G (p.Thr303Ala)
c.259A>G (p.Thr87Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.78865636A>TCA357378564BMP2Kc.1147A>T (p.Thr383Ser)
c.*123A>T (n.*123A>T)
c.224A>T
n.429A>T
c.907A>T (p.Thr303Ser)
c.259A>T (p.Thr87Ser)
4g.78865637C>ACA357378566BMP2Kc.1148C>A (p.Thr383Asn)
c.*124C>A (n.*124C>A)
c.225C>A
n.430C>A
c.908C>A (p.Thr303Asn)
c.260C>A (p.Thr87Asn)
4g.78865637C>GCA357378568BMP2Kc.1148C>G (p.Thr383Ser)
c.*124C>G (n.*124C>G)
c.225C>G
n.430C>G
c.908C>G (p.Thr303Ser)
c.260C>G (p.Thr87Ser)
4g.78865637C>TCA357378567BMP2Kc.1148C>T (p.Thr383Ile)
c.*124C>T (n.*124C>T)
c.225C>T
n.430C>T
c.908C>T (p.Thr303Ile)
c.260C>T (p.Thr87Ile)
 COSMIC
4g.78865638T>ACA439976525BMP2Kc.1149T>A (p.Thr383=)
c.*125T>A (n.*125T>A)
c.226T>A
n.431T>A
c.909T>A (p.Thr303=)
c.261T>A (p.Thr87=)
4g.78865638T>CCA439976528BMP2Kc.1149T>C (p.Thr383=)
c.*125T>C (n.*125T>C)
c.226T>C
n.431T>C
c.909T>C (p.Thr303=)
c.261T>C (p.Thr87=)
4g.78865638T>GCA439976530BMP2Kc.1149T>G (p.Thr383=)
c.*125T>G (n.*125T>G)
c.226T>G
n.431T>G
c.909T>G (p.Thr303=)
c.261T>G (p.Thr87=)
4g.78865639C>ACA357378569BMP2Kc.1150C>A (p.Pro384Thr)
c.*126C>A (n.*126C>A)
c.227C>A
n.432C>A
c.910C>A (p.Pro304Thr)
c.262C>A (p.Pro88Thr)
 gnomAD v4
4g.78865639C>GCA357378570BMP2Kc.1150C>G (p.Pro384Ala)
c.*126C>G (n.*126C>G)
c.227C>G
n.432C>G
c.910C>G (p.Pro304Ala)
c.262C>G (p.Pro88Ala)
4g.78865639C>TCA357378571BMP2Kc.1150C>T (p.Pro384Ser)
c.*126C>T (n.*126C>T)
c.227C>T
n.432C>T
c.910C>T (p.Pro304Ser)
c.262C>T (p.Pro88Ser)
 COSMIC COSMIC
4g.78865640C>ACA357378572BMP2Kc.1151C>A (p.Pro384His)
c.*127C>A (n.*127C>A)
c.228C>A
n.433C>A
c.911C>A (p.Pro304His)
c.263C>A (p.Pro88His)
 dbSNP COSMIC COSMIC
4g.78865640C=CA1470731273BMP2Kc.1151C= (p.Pro384=)
c.*127C= (n.*127C=)
c.228C=
n.433C=
c.911C= (p.Pro304=)
c.263C= (p.Pro88=)
4g.78865640C>GCA357378573BMP2Kc.1151C>G (p.Pro384Arg)
c.*127C>G (n.*127C>G)
c.228C>G
n.433C>G
c.911C>G (p.Pro304Arg)
c.263C>G (p.Pro88Arg)
 gnomAD v4
4g.78865640C>TCA357378574BMP2Kc.1151C>T (p.Pro384Leu)
c.*127C>T (n.*127C>T)
c.228C>T
n.433C>T
c.911C>T (p.Pro304Leu)
c.263C>T (p.Pro88Leu)
4g.78865641C>ACA439976535BMP2Kc.1152C>A (p.Pro384=)
c.*128C>A (n.*128C>A)
c.229C>A
n.434C>A
c.912C>A (p.Pro304=)
c.264C>A (p.Pro88=)
 COSMIC COSMIC
4g.78865641C>GCA439976537BMP2Kc.1152C>G (p.Pro384=)
c.*128C>G (n.*128C>G)
c.229C>G
n.434C>G
c.912C>G (p.Pro304=)
c.264C>G (p.Pro88=)
4g.78865641C>TCA439976536BMP2Kc.1152C>T (p.Pro384=)
c.*128C>T (n.*128C>T)
c.229C>T
n.434C>T
c.912C>T (p.Pro304=)
c.264C>T (p.Pro88=)
4g.78865642A>CCA357378575BMP2Kc.1153A>C (p.Ser385Arg)
c.*129A>C (n.*129A>C)
c.230A>C
n.435A>C
c.913A>C (p.Ser305Arg)
c.265A>C (p.Ser89Arg)
4g.78865642A>GCA357378576BMP2Kc.1153A>G (p.Ser385Gly)
c.*129A>G (n.*129A>G)
c.230A>G
n.435A>G
c.913A>G (p.Ser305Gly)
c.265A>G (p.Ser89Gly)
4g.78865642A>TCA357378577BMP2Kc.1153A>T (p.Ser385Cys)
c.*129A>T (n.*129A>T)
c.230A>T
n.435A>T
c.913A>T (p.Ser305Cys)
c.265A>T (p.Ser89Cys)
4g.78865643G>ACA357378578BMP2Kc.1154G>A (p.Ser385Asn)
c.*130G>A (n.*130G>A)
c.231G>A
n.436G>A
c.914G>A (p.Ser305Asn)
c.266G>A (p.Ser89Asn)
 gnomAD v4
4g.78865643G>CCA357378579BMP2Kc.1154G>C (p.Ser385Thr)
c.*130G>C (n.*130G>C)
c.231G>C
n.436G>C
c.914G>C (p.Ser305Thr)
c.266G>C (p.Ser89Thr)
4g.78865643G>TCA357378580BMP2Kc.1154G>T (p.Ser385Ile)
c.*130G>T (n.*130G>T)
c.231G>T
n.436G>T
c.914G>T (p.Ser305Ile)
c.266G>T (p.Ser89Ile)
4g.78865644T>ACA357378581BMP2Kc.1155T>A (p.Ser385Arg)
c.*131T>A (n.*131T>A)
c.232T>A
n.437T>A
c.915T>A (p.Ser305Arg)
c.267T>A (p.Ser89Arg)
4g.78865644T>CCA439976546BMP2Kc.1155T>C (p.Ser385=)
c.*131T>C (n.*131T>C)
c.232T>C
n.437T>C
c.915T>C (p.Ser305=)
c.267T>C (p.Ser89=)
4g.78865644T>GCA99975168BMP2Kc.1155T>G (p.Ser385Arg)
c.*131T>G (n.*131T>G)
c.232T>G
n.437T>G
c.915T>G (p.Ser305Arg)
c.267T>G (p.Ser89Arg)
 dbSNP gnomAD v4
4g.78865644T=CA1470731278BMP2Kc.1155T= (p.Ser385=)
c.*131T= (n.*131T=)
c.232T=
n.437T=
c.915T= (p.Ser305=)
c.267T= (p.Ser89=)
4g.78865645G>ACA357378582BMP2Kc.1156G>A (p.Val386Met)
c.*132G>A (n.*132G>A)
c.233G>A
n.438G>A
c.916G>A (p.Val306Met)
c.268G>A (p.Val90Met)
 dbSNP gnomAD v3 gnomAD v4
4g.78865645G>CCA357378583BMP2Kc.1156G>C (p.Val386Leu)
c.*132G>C (n.*132G>C)
c.233G>C
n.438G>C
c.916G>C (p.Val306Leu)
c.268G>C (p.Val90Leu)
4g.78865645G=CA1470731283BMP2Kc.1156G= (p.Val386=)
c.*132G= (n.*132G=)
c.233G=
n.438G=
c.916G= (p.Val306=)
c.268G= (p.Val90=)
4g.78865645G>TCA357378584BMP2Kc.1156G>T (p.Val386Leu)
c.*132G>T (n.*132G>T)
c.233G>T
n.438G>T
c.916G>T (p.Val306Leu)
c.268G>T (p.Val90Leu)
 gnomAD v4
4g.78865646T>ACA357378585BMP2Kc.1157T>A (p.Val386Glu)
c.*133T>A (n.*133T>A)
c.234T>A
n.439T>A
c.917T>A (p.Val306Glu)
c.269T>A (p.Val90Glu)
4g.78865646T>CCA357378586BMP2Kc.1157T>C (p.Val386Ala)
c.*133T>C (n.*133T>C)
c.234T>C
n.439T>C
c.917T>C (p.Val306Ala)
c.269T>C (p.Val90Ala)
4g.78865646T>GCA357378587BMP2Kc.1157T>G (p.Val386Gly)
c.*133T>G (n.*133T>G)
c.234T>G
n.439T>G
c.917T>G (p.Val306Gly)
c.269T>G (p.Val90Gly)
4g.78865647G>ACA439976554BMP2Kc.1158G>A (p.Val386=)
c.*134G>A (n.*134G>A)
c.235G>A
n.440G>A
c.918G>A (p.Val306=)
c.270G>A (p.Val90=)
 gnomAD v4
4g.78865647G>CCA439976555BMP2Kc.1158G>C (p.Val386=)
c.*134G>C (n.*134G>C)
c.235G>C
n.440G>C
c.918G>C (p.Val306=)
c.270G>C (p.Val90=)
4g.78865647G>TCA439976558BMP2Kc.1158G>T (p.Val386=)
c.*134G>T (n.*134G>T)
c.235G>T
n.440G>T
c.918G>T (p.Val306=)
c.270G>T (p.Val90=)
 gnomAD v4
4g.78865648C>ACA357378588BMP2Kc.1159C>A (p.Leu387Met)
c.*135C>A (n.*135C>A)
c.236C>A
n.441C>A
c.919C>A (p.Leu307Met)
c.271C>A (p.Leu91Met)
4g.78865648C>GCA357378589BMP2Kc.1159C>G (p.Leu387Val)
c.*135C>G (n.*135C>G)
c.236C>G
n.441C>G
c.919C>G (p.Leu307Val)
c.271C>G (p.Leu91Val)
4g.78865648C>TCA439976559BMP2Kc.1159C>T (p.Leu387=)
c.*135C>T (n.*135C>T)
c.236C>T
n.441C>T
c.919C>T (p.Leu307=)
c.271C>T (p.Leu91=)
4g.78865649T>ACA357378590BMP2Kc.1160T>A (p.Leu387Gln)
c.*136T>A (n.*136T>A)
c.237T>A
n.442T>A
c.920T>A (p.Leu307Gln)
c.272T>A (p.Leu91Gln)
4g.78865649T>CCA2980204BMP2Kc.1160T>C (p.Leu387Pro)
c.*136T>C (n.*136T>C)
c.237T>C
n.442T>C
c.920T>C (p.Leu307Pro)
c.272T>C (p.Leu91Pro)
 dbSNP ExAC
4g.78865649T>GCA357378591BMP2Kc.1160T>G (p.Leu387Arg)
c.*136T>G (n.*136T>G)
c.237T>G
n.442T>G
c.920T>G (p.Leu307Arg)
c.272T>G (p.Leu91Arg)
 ClinVar dbSNP gnomAD v4
4g.78865649T=CA1470731289BMP2Kc.1160T= (p.Leu387=)
c.*136T= (n.*136T=)
c.237T=
n.442T=
c.920T= (p.Leu307=)
c.272T= (p.Leu91=)
4g.78865650G>ACA2980205BMP2Kc.1161G>A (p.Leu387=)
c.*137G>A (n.*137G>A)
c.238G>A
n.443G>A
c.921G>A (p.Leu307=)
c.273G>A (p.Leu91=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.78865650G>CCA439976569BMP2Kc.1161G>C (p.Leu387=)
c.*137G>C (n.*137G>C)
c.238G>C
n.443G>C
c.921G>C (p.Leu307=)
c.273G>C (p.Leu91=)
4g.78865650G=CA1470731294BMP2Kc.1161G= (p.Leu387=)
c.*137G= (n.*137G=)
c.238G=
n.443G=
c.921G= (p.Leu307=)
c.273G= (p.Leu91=)
4g.78865650G>TCA439976567BMP2Kc.1161G>T (p.Leu387=)
c.*137G>T (n.*137G>T)
c.238G>T
n.443G>T
c.921G>T (p.Leu307=)
c.273G>T (p.Leu91=)
 gnomAD v4
4g.78865651A=CA1470731300BMP2Kc.1162A= (p.Thr388=)
c.*138A= (n.*138A=)
c.239A=
n.444A=
c.922A= (p.Thr308=)
c.274A= (p.Thr92=)
4g.78865651A>CCA2980206BMP2Kc.1162A>C (p.Thr388Pro)
c.*138A>C (n.*138A>C)
c.239A>C
n.444A>C
c.922A>C (p.Thr308Pro)
c.274A>C (p.Thr92Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865651A>GCA357378593BMP2Kc.1162A>G (p.Thr388Ala)
c.*138A>G (n.*138A>G)
c.239A>G
n.444A>G
c.922A>G (p.Thr308Ala)
c.274A>G (p.Thr92Ala)
4g.78865651A>TCA357378592BMP2Kc.1162A>T (p.Thr388Ser)
c.*138A>T (n.*138A>T)
c.239A>T
n.444A>T
c.922A>T (p.Thr308Ser)
c.274A>T (p.Thr92Ser)
4g.78865652C>ACA357378596BMP2Kc.1163C>A (p.Thr388Asn)
c.*139C>A (n.*139C>A)
c.240C>A
n.445C>A
c.923C>A (p.Thr308Asn)
c.275C>A (p.Thr92Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.78865652C=CA1470731303BMP2Kc.1163C= (p.Thr388=)
c.*139C= (n.*139C=)
c.240C=
n.445C=
c.923C= (p.Thr308=)
c.275C= (p.Thr92=)
4g.78865652C>GCA357378594BMP2Kc.1163C>G (p.Thr388Ser)
c.*139C>G (n.*139C>G)
c.240C>G
n.445C>G
c.923C>G (p.Thr308Ser)
c.275C>G (p.Thr92Ser)
4g.78865652C>TCA357378595BMP2Kc.1163C>T (p.Thr388Ile)
c.*139C>T (n.*139C>T)
c.240C>T
n.445C>T
c.923C>T (p.Thr308Ile)
c.275C>T (p.Thr92Ile)
4g.78865653C>ACA439976575BMP2Kc.1164C>A (p.Thr388=)
c.*140C>A (n.*140C>A)
c.241C>A
n.446C>A
c.924C>A (p.Thr308=)
c.276C>A (p.Thr92=)
 gnomAD v4
4g.78865653C>GCA439976577BMP2Kc.1164C>G (p.Thr388=)
c.*140C>G (n.*140C>G)
c.241C>G
n.446C>G
c.924C>G (p.Thr308=)
c.276C>G (p.Thr92=)
4g.78865653C>TCA439976580BMP2Kc.1164C>T (p.Thr388=)
c.*140C>T (n.*140C>T)
c.241C>T
n.446C>T
c.924C>T (p.Thr308=)
c.276C>T (p.Thr92=)
4g.78865654A=CA1470731304BMP2Kc.1165A= (p.Ile389=)
c.*141A= (n.*141A=)
c.242A=
n.447A=
c.925A= (p.Ile309=)
c.277A= (p.Ile93=)
4g.78865654A>CCA2980207BMP2Kc.1165A>C (p.Ile389Leu)
c.*141A>C (n.*141A>C)
c.242A>C
n.447A>C
c.925A>C (p.Ile309Leu)
c.277A>C (p.Ile93Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865654A>GCA2980208BMP2Kc.1165A>G (p.Ile389Val)
c.*141A>G (n.*141A>G)
c.242A>G
n.447A>G
c.925A>G (p.Ile309Val)
c.277A>G (p.Ile93Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865654A>TCA357378597BMP2Kc.1165A>T (p.Ile389Phe)
c.*141A>T (n.*141A>T)
c.242A>T
n.447A>T
c.925A>T (p.Ile309Phe)
c.277A>T (p.Ile93Phe)
4g.78865655T>ACA357378598BMP2Kc.1166T>A (p.Ile389Asn)
c.*142T>A (n.*142T>A)
c.243T>A
n.448T>A
c.926T>A (p.Ile309Asn)
c.278T>A (p.Ile93Asn)
 gnomAD v4
4g.78865655T>CCA357378599BMP2Kc.1166T>C (p.Ile389Thr)
c.*142T>C (n.*142T>C)
c.243T>C
n.448T>C
c.926T>C (p.Ile309Thr)
c.278T>C (p.Ile93Thr)
4g.78865655T>GCA357378600BMP2Kc.1166T>G (p.Ile389Ser)
c.*142T>G (n.*142T>G)
c.243T>G
n.448T>G
c.926T>G (p.Ile309Ser)
c.278T>G (p.Ile93Ser)
4g.78865656T>ACA439976591BMP2Kc.1167T>A (p.Ile389=)
c.*143T>A (n.*143T>A)
c.244T>A
n.449T>A
c.927T>A (p.Ile309=)
c.279T>A (p.Ile93=)
 gnomAD v4
4g.78865656T>CCA439976592BMP2Kc.1167T>C (p.Ile389=)
c.*143T>C (n.*143T>C)
c.244T>C
n.449T>C
c.927T>C (p.Ile309=)
c.279T>C (p.Ile93=)
4g.78865656T>GCA357378601BMP2Kc.1167T>G (p.Ile389Met)
c.*143T>G (n.*143T>G)
c.244T>G
n.449T>G
c.927T>G (p.Ile309Met)
c.279T>G (p.Ile93Met)
4g.78865657C>ACA357378602BMP2Kc.1168C>A (p.Gln390Lys)
c.*144C>A (n.*144C>A)
c.245C>A
n.450C>A
c.928C>A (p.Gln310Lys)
c.280C>A (p.Gln94Lys)
4g.78865657C>GCA357378603BMP2Kc.1168C>G (p.Gln390Glu)
c.*144C>G (n.*144C>G)
c.245C>G
n.450C>G
c.928C>G (p.Gln310Glu)
c.280C>G (p.Gln94Glu)
4g.78865657C>TCA357378604BMP2Kc.1168C>T (p.Gln390Ter)
c.*144C>T (n.*144C>T)
c.245C>T
n.450C>T
c.928C>T (p.Gln310Ter)
c.280C>T (p.Gln94Ter)
4g.78865658A>CCA357378607BMP2Kc.1169A>C (p.Gln390Pro)
c.*145A>C (n.*145A>C)
c.246A>C
n.451A>C
c.929A>C (p.Gln310Pro)
c.281A>C (p.Gln94Pro)
4g.78865658A>GCA357378606BMP2Kc.1169A>G (p.Gln390Arg)
c.*145A>G (n.*145A>G)
c.246A>G
n.451A>G
c.929A>G (p.Gln310Arg)
c.281A>G (p.Gln94Arg)
4g.78865658A>TCA357378605BMP2Kc.1169A>T (p.Gln390Leu)
c.*145A>T (n.*145A>T)
c.246A>T
n.451A>T
c.929A>T (p.Gln310Leu)
c.281A>T (p.Gln94Leu)
4g.78865659A=CA1470731307BMP2Kc.1170A= (p.Gln390=)
c.*146A= (n.*146A=)
c.247A=
n.452A=
c.930A= (p.Gln310=)
c.282A= (p.Gln94=)
4g.78865659A>CCA357378608BMP2Kc.1170A>C (p.Gln390His)
c.*146A>C (n.*146A>C)
c.247A>C
n.452A>C
c.930A>C (p.Gln310His)
c.282A>C (p.Gln94His)
4g.78865659A>GCA99975183BMP2Kc.1170A>G (p.Gln390=)
c.*146A>G (n.*146A>G)
c.247A>G
n.452A>G
c.930A>G (p.Gln310=)
c.282A>G (p.Gln94=)
 dbSNP gnomAD v4
4g.78865659A>TCA357378609BMP2Kc.1170A>T (p.Gln390His)
c.*146A>T (n.*146A>T)
c.247A>T
n.452A>T
c.930A>T (p.Gln310His)
c.282A>T (p.Gln94His)
4g.78865660A>CCA357378610BMP2Kc.1171A>C (p.Ser391Arg)
c.*147A>C (n.*147A>C)
c.248A>C
n.453A>C
c.931A>C (p.Ser311Arg)
c.283A>C (p.Ser95Arg)
4g.78865660A>GCA357378611BMP2Kc.1171A>G (p.Ser391Gly)
c.*147A>G (n.*147A>G)
c.248A>G
n.453A>G
c.931A>G (p.Ser311Gly)
c.283A>G (p.Ser95Gly)
4g.78865660A>TCA357378612BMP2Kc.1171A>T (p.Ser391Cys)
c.*147A>T (n.*147A>T)
c.248A>T
n.453A>T
c.931A>T (p.Ser311Cys)
c.283A>T (p.Ser95Cys)
4g.78865661G>ACA357378613BMP2Kc.1172G>A (p.Ser391Asn)
c.*148G>A (n.*148G>A)
c.249G>A
n.454G>A
c.932G>A (p.Ser311Asn)
c.284G>A (p.Ser95Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.78865661G>CCA357378614BMP2Kc.1172G>C (p.Ser391Thr)
c.*148G>C (n.*148G>C)
c.249G>C
n.454G>C
c.932G>C (p.Ser311Thr)
c.284G>C (p.Ser95Thr)
4g.78865661G=CA1470731309BMP2Kc.1172G= (p.Ser391=)
c.*148G= (n.*148G=)
c.249G=
n.454G=
c.932G= (p.Ser311=)
c.284G= (p.Ser95=)
4g.78865661G>TCA357378615BMP2Kc.1172G>T (p.Ser391Ile)
c.*148G>T (n.*148G>T)
c.249G>T
n.454G>T
c.932G>T (p.Ser311Ile)
c.284G>T (p.Ser95Ile)
 dbSNP gnomAD v3 gnomAD v4
4g.78865662T>ACA357378616BMP2Kc.1173T>A (p.Ser391Arg)
c.*149T>A (n.*149T>A)
c.250T>A
n.455T>A
c.933T>A (p.Ser311Arg)
c.285T>A (p.Ser95Arg)
4g.78865662T>CCA439976610BMP2Kc.1173T>C (p.Ser391=)
c.*149T>C (n.*149T>C)
c.250T>C
n.455T>C
c.933T>C (p.Ser311=)
c.285T>C (p.Ser95=)
4g.78865662T>GCA357378617BMP2Kc.1173T>G (p.Ser391Arg)
c.*149T>G (n.*149T>G)
c.250T>G
n.455T>G
c.933T>G (p.Ser311Arg)
c.285T>G (p.Ser95Arg)
4g.78865663T>ACA357378618BMP2Kc.1174T>A (p.Ser392Thr)
c.*150T>A (n.*150T>A)
c.251T>A
n.456T>A
c.934T>A (p.Ser312Thr)
c.286T>A (p.Ser96Thr)
4g.78865663T>CCA357378619BMP2Kc.1174T>C (p.Ser392Pro)
c.*150T>C (n.*150T>C)
c.251T>C
n.456T>C
c.934T>C (p.Ser312Pro)
c.286T>C (p.Ser96Pro)
4g.78865663T>GCA357378620BMP2Kc.1174T>G (p.Ser392Ala)
c.*150T>G (n.*150T>G)
c.251T>G
n.456T>G
c.934T>G (p.Ser312Ala)
c.286T>G (p.Ser96Ala)
4g.78865664C>ACA357378622BMP2Kc.1175C>A (p.Ser392Ter)
c.*151C>A (n.*151C>A)
c.252C>A
n.457C>A
c.935C>A (p.Ser312Ter)
c.287C>A (p.Ser96Ter)
4g.78865664C>GCA357378623BMP2Kc.1175C>G (p.Ser392Ter)
c.*151C>G (n.*151C>G)
c.252C>G
n.457C>G
c.935C>G (p.Ser312Ter)
c.287C>G (p.Ser96Ter)
4g.78865664C>TCA357378621BMP2Kc.1175C>T (p.Ser392Leu)
c.*151C>T (n.*151C>T)
c.252C>T
n.457C>T
c.935C>T (p.Ser312Leu)
c.287C>T (p.Ser96Leu)
4g.78865665A=CA1470731315BMP2Kc.1176A= (p.Ser392=)
c.*152A= (n.*152A=)
c.253A=
n.458A=
c.936A= (p.Ser312=)
c.288A= (p.Ser96=)
4g.78865665A>CCA439976613BMP2Kc.1176A>C (p.Ser392=)
c.*152A>C (n.*152A>C)
c.253A>C
n.458A>C
c.936A>C (p.Ser312=)
c.288A>C (p.Ser96=)
4g.78865665A>GCA2980209BMP2Kc.1176A>G (p.Ser392=)
c.*152A>G (n.*152A>G)
c.253A>G
n.458A>G
c.936A>G (p.Ser312=)
c.288A>G (p.Ser96=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.78865665A>TCA439976614BMP2Kc.1176A>T (p.Ser392=)
c.*152A>T (n.*152A>T)
c.253A>T
n.458A>T
c.936A>T (p.Ser312=)
c.288A>T (p.Ser96=)
4g.78865666G>ACA357378626BMP2Kc.1177G>A (p.Ala393Thr)
c.*153G>A (n.*153G>A)
c.254G>A
n.459G>A
c.937G>A (p.Ala313Thr)
c.289G>A (p.Ala97Thr)
 dbSNP gnomAD v4
4g.78865666G>CCA357378624BMP2Kc.1177G>C (p.Ala393Pro)
c.*153G>C (n.*153G>C)
c.254G>C
n.459G>C
c.937G>C (p.Ala313Pro)
c.289G>C (p.Ala97Pro)
4g.78865666G=CA1470731319BMP2Kc.1177G= (p.Ala393=)
c.*153G= (n.*153G=)
c.254G=
n.459G=
c.937G= (p.Ala313=)
c.289G= (p.Ala97=)
4g.78865666G>TCA357378625BMP2Kc.1177G>T (p.Ala393Ser)
c.*153G>T (n.*153G>T)
c.254G>T
n.459G>T
c.937G>T (p.Ala313Ser)
c.289G>T (p.Ala97Ser)
4g.78865667C>ACA357378627BMP2Kc.1178C>A (p.Ala393Glu)
c.*154C>A (n.*154C>A)
c.255C>A
n.460C>A
c.938C>A (p.Ala313Glu)
c.290C>A (p.Ala97Glu)
4g.78865667C>GCA357378628BMP2Kc.1178C>G (p.Ala393Gly)
c.*154C>G (n.*154C>G)
c.255C>G
n.460C>G
c.938C>G (p.Ala313Gly)
c.290C>G (p.Ala97Gly)
4g.78865667C>TCA357378629BMP2Kc.1178C>T (p.Ala393Val)
c.*154C>T (n.*154C>T)
c.255C>T
n.460C>T
c.938C>T (p.Ala313Val)
c.290C>T (p.Ala97Val)
4g.78865668A>CCA439976622BMP2Kc.1179A>C (p.Ala393=)
c.*155A>C (n.*155A>C)
c.256A>C
n.461A>C
c.939A>C (p.Ala313=)
c.291A>C (p.Ala97=)
4g.78865668A>GCA439976624BMP2Kc.1179A>G (p.Ala393=)
c.*155A>G (n.*155A>G)
c.256A>G
n.461A>G
c.939A>G (p.Ala313=)
c.291A>G (p.Ala97=)
4g.78865668A>TCA439976625BMP2Kc.1179A>T (p.Ala393=)
c.*155A>T (n.*155A>T)
c.256A>T
n.461A>T
c.939A>T (p.Ala313=)
c.291A>T (p.Ala97=)

Number of alleles fetched