Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
4g.78865669A>CCA357378630BMP2Kc.1180A>C (p.Thr394Pro)
c.*156A>C (n.*156A>C)
c.257A>C
n.462A>C
c.940A>C (p.Thr314Pro)
c.292A>C (p.Thr98Pro)
4g.78865669A>GCA357378631BMP2Kc.1180A>G (p.Thr394Ala)
c.*156A>G (n.*156A>G)
c.257A>G
n.462A>G
c.940A>G (p.Thr314Ala)
c.292A>G (p.Thr98Ala)
4g.78865669A>TCA357378632BMP2Kc.1180A>T (p.Thr394Ser)
c.*156A>T (n.*156A>T)
c.257A>T
n.462A>T
c.940A>T (p.Thr314Ser)
c.292A>T (p.Thr98Ser)
4g.78865670C>ACA357378633BMP2Kc.1181C>A (p.Thr394Lys)
c.*157C>A (n.*157C>A)
c.258C>A
n.463C>A
c.941C>A (p.Thr314Lys)
c.293C>A (p.Thr98Lys)
4g.78865670C>GCA357378634BMP2Kc.1181C>G (p.Thr394Arg)
c.*157C>G (n.*157C>G)
c.258C>G
n.463C>G
c.941C>G (p.Thr314Arg)
c.293C>G (p.Thr98Arg)
4g.78865670C>TCA357378635BMP2Kc.1181C>T (p.Thr394Ile)
c.*157C>T (n.*157C>T)
c.258C>T
n.463C>T
c.941C>T (p.Thr314Ile)
c.293C>T (p.Thr98Ile)
 gnomAD v4
4g.78865671A>CCA439976632BMP2Kc.1182A>C (p.Thr394=)
c.*158A>C (n.*158A>C)
c.259A>C
n.464A>C
c.942A>C (p.Thr314=)
c.294A>C (p.Thr98=)
4g.78865671A>GCA439976637BMP2Kc.1182A>G (p.Thr394=)
c.*158A>G (n.*158A>G)
c.259A>G
n.464A>G
c.942A>G (p.Thr314=)
c.294A>G (p.Thr98=)
4g.78865671A>TCA439976633BMP2Kc.1182A>T (p.Thr394=)
c.*158A>T (n.*158A>T)
c.259A>T
n.464A>T
c.942A>T (p.Thr314=)
c.294A>T (p.Thr98=)
4g.78865672C>ACA357378637BMP2Kc.1183C>A (p.Pro395Thr)
c.*159C>A (n.*159C>A)
c.260C>A
n.465C>A
c.943C>A (p.Pro315Thr)
c.295C>A (p.Pro99Thr)
4g.78865672C=CA1470731323BMP2Kc.1183C= (p.Pro395=)
c.*159C= (n.*159C=)
c.260C=
n.465C=
c.943C= (p.Pro315=)
c.295C= (p.Pro99=)
4g.78865672C>GCA357378636BMP2Kc.1183C>G (p.Pro395Ala)
c.*159C>G (n.*159C>G)
c.260C>G
n.465C>G
c.943C>G (p.Pro315Ala)
c.295C>G (p.Pro99Ala)
4g.78865672C>TCA99975190BMP2Kc.1183C>T (p.Pro395Ser)
c.*159C>T (n.*159C>T)
c.260C>T
n.465C>T
c.943C>T (p.Pro315Ser)
c.295C>T (p.Pro99Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.78865673C>ACA357378638BMP2Kc.1184C>A (p.Pro395His)
c.*160C>A (n.*160C>A)
c.261C>A
n.466C>A
c.944C>A (p.Pro315His)
c.296C>A (p.Pro99His)
4g.78865673C=CA1470731327BMP2Kc.1184C= (p.Pro395=)
c.*160C= (n.*160C=)
c.261C=
n.466C=
c.944C= (p.Pro315=)
c.296C= (p.Pro99=)
4g.78865673C>GCA357378639BMP2Kc.1184C>G (p.Pro395Arg)
c.*160C>G (n.*160C>G)
c.261C>G
n.466C>G
c.944C>G (p.Pro315Arg)
c.296C>G (p.Pro99Arg)
4g.78865673C>TCA357378640BMP2Kc.1184C>T (p.Pro395Leu)
c.*160C>T (n.*160C>T)
c.261C>T
n.466C>T
c.944C>T (p.Pro315Leu)
c.296C>T (p.Pro99Leu)
 dbSNP gnomAD v2 gnomAD v4
4g.78865674T>ACA439976640BMP2Kc.1185T>A (p.Pro395=)
c.*161T>A (n.*161T>A)
c.262T>A
n.467T>A
c.945T>A (p.Pro315=)
c.297T>A (p.Pro99=)
4g.78865674T>CCA439976641BMP2Kc.1185T>C (p.Pro395=)
c.*161T>C (n.*161T>C)
c.262T>C
n.467T>C
c.945T>C (p.Pro315=)
c.297T>C (p.Pro99=)
4g.78865674T>GCA439976643BMP2Kc.1185T>G (p.Pro395=)
c.*161T>G (n.*161T>G)
c.262T>G
n.467T>G
c.945T>G (p.Pro315=)
c.297T>G (p.Pro99=)
4g.78865675G>ACA357378641BMP2Kc.1186G>A (p.Val396Ile)
c.*162G>A (n.*162G>A)
c.263G>A
n.468G>A
c.946G>A (p.Val316Ile)
c.298G>A (p.Val100Ile)
4g.78865675G>CCA357378642BMP2Kc.1186G>C (p.Val396Leu)
c.*162G>C (n.*162G>C)
c.263G>C
n.468G>C
c.946G>C (p.Val316Leu)
c.298G>C (p.Val100Leu)
4g.78865675G>TCA357378643BMP2Kc.1186G>T (p.Val396Phe)
c.*162G>T (n.*162G>T)
c.263G>T
n.468G>T
c.946G>T (p.Val316Phe)
c.298G>T (p.Val100Phe)
4g.78865676T>ACA357378644BMP2Kc.1187T>A (p.Val396Asp)
c.*163T>A (n.*163T>A)
c.264T>A
n.469T>A
c.947T>A (p.Val316Asp)
c.299T>A (p.Val100Asp)
4g.78865676T>CCA357378645BMP2Kc.1187T>C (p.Val396Ala)
c.*163T>C (n.*163T>C)
c.264T>C
n.469T>C
c.947T>C (p.Val316Ala)
c.299T>C (p.Val100Ala)
4g.78865676T>GCA357378646BMP2Kc.1187T>G (p.Val396Gly)
c.*163T>G (n.*163T>G)
c.264T>G
n.469T>G
c.947T>G (p.Val316Gly)
c.299T>G (p.Val100Gly)
4g.78865677T>ACA2980210BMP2Kc.1188T>A (p.Val396=)
c.*164T>A (n.*164T>A)
c.265T>A
n.470T>A
c.948T>A (p.Val316=)
c.300T>A (p.Val100=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.78865677T>CCA439976647BMP2Kc.1188T>C (p.Val396=)
c.*164T>C (n.*164T>C)
c.265T>C
n.470T>C
c.948T>C (p.Val316=)
c.300T>C (p.Val100=)
4g.78865677T>GCA439976648BMP2Kc.1188T>G (p.Val396=)
c.*164T>G (n.*164T>G)
c.265T>G
n.470T>G
c.948T>G (p.Val316=)
c.300T>G (p.Val100=)
4g.78865677T=CA1470731330BMP2Kc.1188T= (p.Val396=)
c.*164T= (n.*164T=)
c.265T=
n.470T=
c.948T= (p.Val316=)
c.300T= (p.Val100=)
4g.78865678A>CCA357378647BMP2Kc.1189A>C (p.Lys397Gln)
c.*165A>C (n.*165A>C)
c.266A>C
n.471A>C
c.949A>C (p.Lys317Gln)
c.301A>C (p.Lys101Gln)
4g.78865678A>GCA357378648BMP2Kc.1189A>G (p.Lys397Glu)
c.*165A>G (n.*165A>G)
c.266A>G
n.471A>G
c.949A>G (p.Lys317Glu)
c.301A>G (p.Lys101Glu)
4g.78865678A>TCA357378649BMP2Kc.1189A>T (p.Lys397Ter)
c.*165A>T (n.*165A>T)
c.266A>T
n.471A>T
c.949A>T (p.Lys317Ter)
c.301A>T (p.Lys101Ter)
4g.78865680dupCA1470731335BMP2Kc.1191dup (p.Val398SerfsTer6)
c.*167dup (n.*167dup)
c.268dup
n.473dup
c.951dup (p.Val318SerfsTer6)
c.303dup (p.Val102SerfsTer6)
 dbSNP
4g.78865679A>CCA357378652BMP2Kc.1190A>C (p.Lys397Thr)
c.*166A>C (n.*166A>C)
c.267A>C
n.472A>C
c.950A>C (p.Lys317Thr)
c.302A>C (p.Lys101Thr)
4g.78865679A>GCA357378651BMP2Kc.1190A>G (p.Lys397Arg)
c.*166A>G (n.*166A>G)
c.267A>G
n.472A>G
c.950A>G (p.Lys317Arg)
c.302A>G (p.Lys101Arg)
 gnomAD v4
4g.78865679A>TCA357378650BMP2Kc.1190A>T (p.Lys397Ile)
c.*166A>T (n.*166A>T)
c.267A>T
n.472A>T
c.950A>T (p.Lys317Ile)
c.302A>T (p.Lys101Ile)
4g.78865680A>CCA357378654BMP2Kc.1191A>C (p.Lys397Asn)
c.*167A>C (n.*167A>C)
c.268A>C
n.473A>C
c.951A>C (p.Lys317Asn)
c.303A>C (p.Lys101Asn)
4g.78865680A>GCA439976653BMP2Kc.1191A>G (p.Lys397=)
c.*167A>G (n.*167A>G)
c.268A>G
n.473A>G
c.951A>G (p.Lys317=)
c.303A>G (p.Lys101=)
4g.78865680A>TCA357378653BMP2Kc.1191A>T (p.Lys397Asn)
c.*167A>T (n.*167A>T)
c.268A>T
n.473A>T
c.951A>T (p.Lys317Asn)
c.303A>T (p.Lys101Asn)
4g.78865681G>ACA357378655BMP2Kc.1192G>A (p.Val398Ile)
c.*168G>A (n.*168G>A)
c.269G>A
n.474G>A
c.952G>A (p.Val318Ile)
c.304G>A (p.Val102Ile)
4g.78865681G>CCA357378656BMP2Kc.1192G>C (p.Val398Leu)
c.*168G>C (n.*168G>C)
c.269G>C
n.474G>C
c.952G>C (p.Val318Leu)
c.304G>C (p.Val102Leu)
4g.78865681G>TCA357378657BMP2Kc.1192G>T (p.Val398Phe)
c.*168G>T (n.*168G>T)
c.269G>T
n.474G>T
c.952G>T (p.Val318Phe)
c.304G>T (p.Val102Phe)
4g.78865682T>ACA357378658BMP2Kc.1193T>A (p.Val398Asp)
c.*169T>A (n.*169T>A)
c.270T>A
n.475T>A
c.953T>A (p.Val318Asp)
c.305T>A (p.Val102Asp)
4g.78865682T>CCA357378659BMP2Kc.1193T>C (p.Val398Ala)
c.*169T>C (n.*169T>C)
c.270T>C
n.475T>C
c.953T>C (p.Val318Ala)
c.305T>C (p.Val102Ala)
4g.78865682T>GCA357378660BMP2Kc.1193T>G (p.Val398Gly)
c.*169T>G (n.*169T>G)
c.270T>G
n.475T>G
c.953T>G (p.Val318Gly)
c.305T>G (p.Val102Gly)
4g.78865683C>ACA439976658BMP2Kc.1194C>A (p.Val398=)
c.*170C>A (n.*170C>A)
c.271C>A
n.476C>A
c.954C>A (p.Val318=)
c.306C>A (p.Val102=)
4g.78865683C=CA1470731340BMP2Kc.1194C= (p.Val398=)
c.*170C= (n.*170C=)
c.271C=
n.476C=
c.954C= (p.Val318=)
c.306C= (p.Val102=)
4g.78865683C>GCA439976660BMP2Kc.1194C>G (p.Val398=)
c.*170C>G (n.*170C>G)
c.271C>G
n.476C>G
c.954C>G (p.Val318=)
c.306C>G (p.Val102=)
4g.78865683C>TCA2980211BMP2Kc.1194C>T (p.Val398=)
c.*170C>T (n.*170C>T)
c.271C>T
n.476C>T
c.954C>T (p.Val318=)
c.306C>T (p.Val102=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.78865684C>ACA357378661BMP2Kc.1195C>A (p.Leu399Ile)
c.*171C>A (n.*171C>A)
c.272C>A
n.477C>A
c.955C>A (p.Leu319Ile)
c.307C>A (p.Leu103Ile)
4g.78865684C>GCA357378662BMP2Kc.1195C>G (p.Leu399Val)
c.*171C>G (n.*171C>G)
c.272C>G
n.477C>G
c.955C>G (p.Leu319Val)
c.307C>G (p.Leu103Val)
 gnomAD v4
4g.78865684C>TCA357378663BMP2Kc.1195C>T (p.Leu399Phe)
c.*171C>T (n.*171C>T)
c.272C>T
n.477C>T
c.955C>T (p.Leu319Phe)
c.307C>T (p.Leu103Phe)
4g.78865685T>ACA357378664BMP2Kc.1196T>A (p.Leu399His)
c.*172T>A (n.*172T>A)
c.273T>A
n.478T>A
c.956T>A (p.Leu319His)
c.308T>A (p.Leu103His)
4g.78865685T>CCA357378665BMP2Kc.1196T>C (p.Leu399Pro)
c.*172T>C (n.*172T>C)
c.273T>C
n.478T>C
c.956T>C (p.Leu319Pro)
c.308T>C (p.Leu103Pro)
4g.78865685T>GCA357378666BMP2Kc.1196T>G (p.Leu399Arg)
c.*172T>G (n.*172T>G)
c.273T>G
n.478T>G
c.956T>G (p.Leu319Arg)
c.308T>G (p.Leu103Arg)
4g.78865686T>ACA439976670BMP2Kc.1197T>A (p.Leu399=)
c.*173T>A (n.*173T>A)
c.274T>A
n.479T>A
c.957T>A (p.Leu319=)
c.309T>A (p.Leu103=)
4g.78865686T>CCA439976671BMP2Kc.1197T>C (p.Leu399=)
c.*173T>C (n.*173T>C)
c.274T>C
n.479T>C
c.957T>C (p.Leu319=)
c.309T>C (p.Leu103=)
4g.78865686T>GCA439976672BMP2Kc.1197T>G (p.Leu399=)
c.*173T>G (n.*173T>G)
c.274T>G
n.479T>G
c.957T>G (p.Leu319=)
c.309T>G (p.Leu103=)
4g.78865687G>ACA357378667BMP2Kc.1198G>A (p.Ala400Thr)
c.*174G>A (n.*174G>A)
c.275G>A
n.480G>A
c.958G>A (p.Ala320Thr)
c.310G>A (p.Ala104Thr)
4g.78865687G>CCA357378669BMP2Kc.1198G>C (p.Ala400Pro)
c.*174G>C (n.*174G>C)
c.275G>C
n.480G>C
c.958G>C (p.Ala320Pro)
c.310G>C (p.Ala104Pro)
4g.78865687G>TCA357378668BMP2Kc.1198G>T (p.Ala400Ser)
c.*174G>T (n.*174G>T)
c.275G>T
n.480G>T
c.958G>T (p.Ala320Ser)
c.310G>T (p.Ala104Ser)
 gnomAD v4
4g.78865688C>ACA357378670BMP2Kc.1199C>A (p.Ala400Asp)
c.*175C>A (n.*175C>A)
c.276C>A
n.481C>A
c.959C>A (p.Ala320Asp)
c.311C>A (p.Ala104Asp)
4g.78865688C>GCA357378671BMP2Kc.1199C>G (p.Ala400Gly)
c.*175C>G (n.*175C>G)
c.276C>G
n.481C>G
c.959C>G (p.Ala320Gly)
c.311C>G (p.Ala104Gly)
4g.78865688C>TCA357378672BMP2Kc.1199C>T (p.Ala400Val)
c.*175C>T (n.*175C>T)
c.276C>T
n.481C>T
c.959C>T (p.Ala320Val)
c.311C>T (p.Ala104Val)
 COSMIC COSMIC
4g.78865689T>ACA439976674BMP2Kc.1200T>A (p.Ala400=)
c.*176T>A (n.*176T>A)
c.277T>A
n.482T>A
c.960T>A (p.Ala320=)
c.312T>A (p.Ala104=)
4g.78865689T>CCA439976676BMP2Kc.1200T>C (p.Ala400=)
c.*176T>C (n.*176T>C)
c.277T>C
n.482T>C
c.960T>C (p.Ala320=)
c.312T>C (p.Ala104=)
 dbSNP gnomAD v2 gnomAD v4
4g.78865689T>GCA439976678BMP2Kc.1200T>G (p.Ala400=)
c.*176T>G (n.*176T>G)
c.277T>G
n.482T>G
c.960T>G (p.Ala320=)
c.312T>G (p.Ala104=)
4g.78865689T=CA1470731344BMP2Kc.1200T= (p.Ala400=)
c.*176T= (n.*176T=)
c.277T=
n.482T=
c.960T= (p.Ala320=)
c.312T= (p.Ala104=)
4g.78865690C>ACA357378673BMP2Kc.1201C>A (p.Pro401Thr)
c.*177C>A (n.*177C>A)
c.278C>A
n.483C>A
c.961C>A (p.Pro321Thr)
c.313C>A (p.Pro105Thr)
4g.78865690C=CA1470731350BMP2Kc.1201C= (p.Pro401=)
c.*177C= (n.*177C=)
c.278C=
n.483C=
c.961C= (p.Pro321=)
c.313C= (p.Pro105=)
4g.78865690C>GCA357378674BMP2Kc.1201C>G (p.Pro401Ala)
c.*177C>G (n.*177C>G)
c.278C>G
n.483C>G
c.961C>G (p.Pro321Ala)
c.313C>G (p.Pro105Ala)
 gnomAD v4
4g.78865690C>TCA2980212BMP2Kc.1201C>T (p.Pro401Ser)
c.*177C>T (n.*177C>T)
c.278C>T
n.483C>T
c.961C>T (p.Pro321Ser)
c.313C>T (p.Pro105Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.78865691C>ACA357378675BMP2Kc.1202C>A (p.Pro401His)
c.*178C>A (n.*178C>A)
c.279C>A
n.484C>A
c.962C>A (p.Pro321His)
c.314C>A (p.Pro105His)
4g.78865691C=CA1470731353BMP2Kc.1202C= (p.Pro401=)
c.*178C= (n.*178C=)
c.279C=
n.484C=
c.962C= (p.Pro321=)
c.314C= (p.Pro105=)
4g.78865691C>GCA357378676BMP2Kc.1202C>G (p.Pro401Arg)
c.*178C>G (n.*178C>G)
c.279C>G
n.484C>G
c.962C>G (p.Pro321Arg)
c.314C>G (p.Pro105Arg)
 gnomAD v4
4g.78865691C>TCA2980213BMP2Kc.1202C>T (p.Pro401Leu)
c.*178C>T (n.*178C>T)
c.279C>T
n.484C>T
c.962C>T (p.Pro321Leu)
c.314C>T (p.Pro105Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.78865692T>ACA439976683BMP2Kc.1203T>A (p.Pro401=)
c.*179T>A (n.*179T>A)
c.280T>A
n.485T>A
c.963T>A (p.Pro321=)
c.315T>A (p.Pro105=)
4g.78865692T>CCA439976682BMP2Kc.1203T>C (p.Pro401=)
c.*179T>C (n.*179T>C)
c.280T>C
n.485T>C
c.963T>C (p.Pro321=)
c.315T>C (p.Pro105=)
4g.78865692T>GCA439976681BMP2Kc.1203T>G (p.Pro401=)
c.*179T>G (n.*179T>G)
c.280T>G
n.485T>G
c.963T>G (p.Pro321=)
c.315T>G (p.Pro105=)
4g.78865693G>ACA357378677BMP2Kc.1204G>A (p.Gly402Ser)
c.*180G>A (n.*180G>A)
c.281G>A
n.486G>A
c.964G>A (p.Gly322Ser)
c.316G>A (p.Gly106Ser)
4g.78865693G>CCA357378678BMP2Kc.1204G>C (p.Gly402Arg)
c.*180G>C (n.*180G>C)
c.281G>C
n.486G>C
c.964G>C (p.Gly322Arg)
c.316G>C (p.Gly106Arg)
4g.78865693G>TCA357378679BMP2Kc.1204G>T (p.Gly402Cys)
c.*180G>T (n.*180G>T)
c.281G>T
n.486G>T
c.964G>T (p.Gly322Cys)
c.316G>T (p.Gly106Cys)
4g.78865694G>ACA357378681BMP2Kc.1205G>A (p.Gly402Asp)
c.*181G>A (n.*181G>A)
c.282G>A
n.487G>A
c.965G>A (p.Gly322Asp)
c.317G>A (p.Gly106Asp)
 gnomAD v4 COSMIC COSMIC
4g.78865694G>CCA357378682BMP2Kc.1205G>C (p.Gly402Ala)
c.*181G>C (n.*181G>C)
c.282G>C
n.487G>C
c.965G>C (p.Gly322Ala)
c.317G>C (p.Gly106Ala)
 gnomAD v4
4g.78865694G>TCA357378680BMP2Kc.1205G>T (p.Gly402Val)
c.*181G>T (n.*181G>T)
c.282G>T
n.487G>T
c.965G>T (p.Gly322Val)
c.317G>T (p.Gly106Val)
4g.78865695T>ACA439976691BMP2Kc.1206T>A (p.Gly402=)
c.*182T>A (n.*182T>A)
c.283T>A
n.488T>A
c.966T>A (p.Gly322=)
c.318T>A (p.Gly106=)
4g.78865695T>CCA439976689BMP2Kc.1206T>C (p.Gly402=)
c.*182T>C (n.*182T>C)
c.283T>C
n.488T>C
c.966T>C (p.Gly322=)
c.318T>C (p.Gly106=)
 dbSNP gnomAD v2 gnomAD v4
4g.78865695T>GCA439976688BMP2Kc.1206T>G (p.Gly402=)
c.*182T>G (n.*182T>G)
c.283T>G
n.488T>G
c.966T>G (p.Gly322=)
c.318T>G (p.Gly106=)
4g.78865695T=CA1470731363BMP2Kc.1206T= (p.Gly402=)
c.*182T= (n.*182T=)
c.283T=
n.488T=
c.966T= (p.Gly322=)
c.318T= (p.Gly106=)
4g.78865696G>ACA357378683BMP2Kc.1207G>A (p.Glu403Lys)
c.*183G>A (n.*183G>A)
c.284G>A
n.489G>A
c.967G>A (p.Glu323Lys)
c.319G>A (p.Glu107Lys)
4g.78865696G>CCA357378685BMP2Kc.1207G>C (p.Glu403Gln)
c.*183G>C (n.*183G>C)
c.284G>C
n.489G>C
c.967G>C (p.Glu323Gln)
c.319G>C (p.Glu107Gln)
4g.78865696G>TCA357378684BMP2Kc.1207G>T (p.Glu403Ter)
c.*183G>T (n.*183G>T)
c.284G>T
n.489G>T
c.967G>T (p.Glu323Ter)
c.319G>T (p.Glu107Ter)
4g.78865697A=CA1470731370BMP2Kc.1208A= (p.Glu403=)
c.*184A= (n.*184A=)
c.285A=
n.490A=
c.968A= (p.Glu323=)
c.320A= (p.Glu107=)
4g.78865697A>CCA357378686BMP2Kc.1208A>C (p.Glu403Ala)
c.*184A>C (n.*184A>C)
c.285A>C
n.490A>C
c.968A>C (p.Glu323Ala)
c.320A>C (p.Glu107Ala)
4g.78865697A>GCA2980214BMP2Kc.1208A>G (p.Glu403Gly)
c.*184A>G (n.*184A>G)
c.285A>G
n.490A>G
c.968A>G (p.Glu323Gly)
c.320A>G (p.Glu107Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.78865697A>TCA357378687BMP2Kc.1208A>T (p.Glu403Val)
c.*184A>T (n.*184A>T)
c.285A>T
n.490A>T
c.968A>T (p.Glu323Val)
c.320A>T (p.Glu107Val)
4g.78865698A>CCA357378688BMP2Kc.1209A>C (p.Glu403Asp)
c.*185A>C (n.*185A>C)
c.286A>C
n.491A>C
c.969A>C (p.Glu323Asp)
c.321A>C (p.Glu107Asp)
4g.78865698A>GCA439976694BMP2Kc.1209A>G (p.Glu403=)
c.*185A>G (n.*185A>G)
c.286A>G
n.491A>G
c.969A>G (p.Glu323=)
c.321A>G (p.Glu107=)
4g.78865698A>TCA357378689BMP2Kc.1209A>T (p.Glu403Asp)
c.*185A>T (n.*185A>T)
c.286A>T
n.491A>T
c.969A>T (p.Glu323Asp)
c.321A>T (p.Glu107Asp)
4g.78865699T>ACA357378690BMP2Kc.1210T>A (p.Phe404Ile)
c.*186T>A (n.*186T>A)
c.287T>A
n.492T>A
c.970T>A (p.Phe324Ile)
c.322T>A (p.Phe108Ile)
4g.78865699T>CCA357378691BMP2Kc.1210T>C (p.Phe404Leu)
c.*186T>C (n.*186T>C)
c.287T>C
n.492T>C
c.970T>C (p.Phe324Leu)
c.322T>C (p.Phe108Leu)
4g.78865699T>GCA357378692BMP2Kc.1210T>G (p.Phe404Val)
c.*186T>G (n.*186T>G)
c.287T>G
n.492T>G
c.970T>G (p.Phe324Val)
c.322T>G (p.Phe108Val)
4g.78865700T>ACA357378693BMP2Kc.1211T>A (p.Phe404Tyr)
c.*187T>A (n.*187T>A)
c.288T>A
n.493T>A
c.971T>A (p.Phe324Tyr)
c.323T>A (p.Phe108Tyr)
4g.78865700T>CCA357378694BMP2Kc.1211T>C (p.Phe404Ser)
c.*187T>C (n.*187T>C)
c.288T>C
n.493T>C
c.971T>C (p.Phe324Ser)
c.323T>C (p.Phe108Ser)
4g.78865700T>GCA357378695BMP2Kc.1211T>G (p.Phe404Cys)
c.*187T>G (n.*187T>G)
c.288T>G
n.493T>G
c.971T>G (p.Phe324Cys)
c.323T>G (p.Phe108Cys)
4g.78865701C>ACA2980215BMP2Kc.1212C>A (p.Phe404Leu)
c.*188C>A (n.*188C>A)
c.289C>A
n.494C>A
c.972C>A (p.Phe324Leu)
c.324C>A (p.Phe108Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865701C=CA1470731374BMP2Kc.1212C= (p.Phe404=)
c.*188C= (n.*188C=)
c.289C=
n.494C=
c.972C= (p.Phe324=)
c.324C= (p.Phe108=)
4g.78865701C>GCA357378696BMP2Kc.1212C>G (p.Phe404Leu)
c.*188C>G (n.*188C>G)
c.289C>G
n.494C>G
c.972C>G (p.Phe324Leu)
c.324C>G (p.Phe108Leu)
4g.78865701C>TCA439976705BMP2Kc.1212C>T (p.Phe404=)
c.*188C>T (n.*188C>T)
c.289C>T
n.494C>T
c.972C>T (p.Phe324=)
c.324C>T (p.Phe108=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.78865702G>ACA2980216BMP2Kc.1213G>A (p.Gly405Ser)
c.*189G>A (n.*189G>A)
c.290G>A
n.495G>A
c.973G>A (p.Gly325Ser)
c.325G>A (p.Gly109Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865702G>CCA357378697BMP2Kc.1213G>C (p.Gly405Arg)
c.*189G>C (n.*189G>C)
c.290G>C
n.495G>C
c.973G>C (p.Gly325Arg)
c.325G>C (p.Gly109Arg)
4g.78865702G=CA1470731378BMP2Kc.1213G= (p.Gly405=)
c.*189G= (n.*189G=)
c.290G=
n.495G=
c.973G= (p.Gly325=)
c.325G= (p.Gly109=)
4g.78865702G>TCA357378698BMP2Kc.1213G>T (p.Gly405Cys)
c.*189G>T (n.*189G>T)
c.290G>T
n.495G>T
c.973G>T (p.Gly325Cys)
c.325G>T (p.Gly109Cys)
4g.78865703G>ACA357378699BMP2Kc.1214G>A (p.Gly405Asp)
c.*190G>A (n.*190G>A)
c.291G>A
n.496G>A
c.974G>A (p.Gly325Asp)
c.326G>A (p.Gly109Asp)
 dbSNP gnomAD v4
4g.78865703G>CCA357378700BMP2Kc.1214G>C (p.Gly405Ala)
c.*190G>C (n.*190G>C)
c.291G>C
n.496G>C
c.974G>C (p.Gly325Ala)
c.326G>C (p.Gly109Ala)
 dbSNP gnomAD v4
4g.78865703G=CA1470731383BMP2Kc.1214G= (p.Gly405=)
c.*190G= (n.*190G=)
c.291G=
n.496G=
c.974G= (p.Gly325=)
c.326G= (p.Gly109=)
4g.78865703G>TCA357378701BMP2Kc.1214G>T (p.Gly405Val)
c.*190G>T (n.*190G>T)
c.291G>T
n.496G>T
c.974G>T (p.Gly325Val)
c.326G>T (p.Gly109Val)
4g.78865704T>ACA439976711BMP2Kc.1215T>A (p.Gly405=)
c.*191T>A (n.*191T>A)
c.292T>A
n.497T>A
c.975T>A (p.Gly325=)
c.327T>A (p.Gly109=)
4g.78865704T>CCA439976712BMP2Kc.1215T>C (p.Gly405=)
c.*191T>C (n.*191T>C)
c.292T>C
n.497T>C
c.975T>C (p.Gly325=)
c.327T>C (p.Gly109=)
4g.78865704T>GCA439976714BMP2Kc.1215T>G (p.Gly405=)
c.*191T>G (n.*191T>G)
c.292T>G
n.497T>G
c.975T>G (p.Gly325=)
c.327T>G (p.Gly109=)
4g.78865705A>CCA357378702BMP2Kc.1216A>C (p.Asn406His)
c.*192A>C (n.*192A>C)
c.293A>C
n.498A>C
c.976A>C (p.Asn326His)
c.328A>C (p.Asn110His)
4g.78865705A>GCA357378703BMP2Kc.1216A>G (p.Asn406Asp)
c.*192A>G (n.*192A>G)
c.293A>G
n.498A>G
c.976A>G (p.Asn326Asp)
c.328A>G (p.Asn110Asp)
4g.78865705A>TCA357378704BMP2Kc.1216A>T (p.Asn406Tyr)
c.*192A>T (n.*192A>T)
c.293A>T
n.498A>T
c.976A>T (p.Asn326Tyr)
c.328A>T (p.Asn110Tyr)
4g.78865706A=CA1470731387BMP2Kc.1217A= (p.Asn406=)
c.*193A= (n.*193A=)
c.294A=
n.499A=
c.977A= (p.Asn326=)
c.329A= (p.Asn110=)
4g.78865706A>CCA357378705BMP2Kc.1217A>C (p.Asn406Thr)
c.*193A>C (n.*193A>C)
c.294A>C
n.499A>C
c.977A>C (p.Asn326Thr)
c.329A>C (p.Asn110Thr)
4g.78865706A>GCA2980217BMP2Kc.1217A>G (p.Asn406Ser)
c.*193A>G (n.*193A>G)
c.294A>G
n.499A>G
c.977A>G (p.Asn326Ser)
c.329A>G (p.Asn110Ser)
 dbSNP ExAC gnomAD v2
4g.78865706A>TCA357378706BMP2Kc.1217A>T (p.Asn406Ile)
c.*193A>T (n.*193A>T)
c.294A>T
n.499A>T
c.977A>T (p.Asn326Ile)
c.329A>T (p.Asn110Ile)
4g.78865707C>ACA2980218BMP2Kc.1218C>A (p.Asn406Lys)
c.*194C>A (n.*194C>A)
c.295C>A
n.500C>A
c.978C>A (p.Asn326Lys)
c.330C>A (p.Asn110Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865707C=CA1470731393BMP2Kc.1218C= (p.Asn406=)
c.*194C= (n.*194C=)
c.295C=
n.500C=
c.978C= (p.Asn326=)
c.330C= (p.Asn110=)
4g.78865707C>GCA357378707BMP2Kc.1218C>G (p.Asn406Lys)
c.*194C>G (n.*194C>G)
c.295C>G
n.500C>G
c.978C>G (p.Asn326Lys)
c.330C>G (p.Asn110Lys)
 gnomAD v4
4g.78865707C>TCA439976721BMP2Kc.1218C>T (p.Asn406=)
c.*194C>T (n.*194C>T)
c.295C>T
n.500C>T
c.978C>T (p.Asn326=)
c.330C>T (p.Asn110=)
4g.78865708C>ACA357378708BMP2Kc.1219C>A (p.His407Asn)
c.*195C>A (n.*195C>A)
c.296C>A
n.501C>A
c.979C>A (p.His327Asn)
c.331C>A (p.His111Asn)
4g.78865708C>GCA357378709BMP2Kc.1219C>G (p.His407Asp)
c.*195C>G (n.*195C>G)
c.296C>G
n.501C>G
c.979C>G (p.His327Asp)
c.331C>G (p.His111Asp)
4g.78865708C>TCA357378710BMP2Kc.1219C>T (p.His407Tyr)
c.*195C>T (n.*195C>T)
c.296C>T
n.501C>T
c.979C>T (p.His327Tyr)
c.331C>T (p.His111Tyr)
4g.78865709delCA2671157131BMP2Kc.1220del (p.His407LeufsTer7)
c.*196del (n.*196del)
c.297del
n.502del
c.980del (p.His327LeufsTer7)
c.332del (p.His111LeufsTer7)
 gnomAD v4
4g.78865709A=CA1470731397BMP2Kc.1220A= (p.His407=)
c.*196A= (n.*196A=)
c.297A=
n.502A=
c.980A= (p.His327=)
c.332A= (p.His111=)
4g.78865709A>CCA357378711BMP2Kc.1220A>C (p.His407Pro)
c.*196A>C (n.*196A>C)
c.297A>C
n.502A>C
c.980A>C (p.His327Pro)
c.332A>C (p.His111Pro)
4g.78865709A>GCA99975241BMP2Kc.1220A>G (p.His407Arg)
c.*196A>G (n.*196A>G)
c.297A>G
n.502A>G
c.980A>G (p.His327Arg)
c.332A>G (p.His111Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.78865709A>TCA357378712BMP2Kc.1220A>T (p.His407Leu)
c.*196A>T (n.*196A>T)
c.297A>T
n.502A>T
c.980A>T (p.His327Leu)
c.332A>T (p.His111Leu)
4g.78865710T>ACA2980219BMP2Kc.1221T>A (p.His407Gln)
c.*197T>A (n.*197T>A)
c.298T>A
n.503T>A
c.981T>A (p.His327Gln)
c.333T>A (p.His111Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865710T>CCA439976727BMP2Kc.1221T>C (p.His407=)
c.*197T>C (n.*197T>C)
c.298T>C
n.503T>C
c.981T>C (p.His327=)
c.333T>C (p.His111=)
 dbSNP
4g.78865710T>GCA357378713BMP2Kc.1221T>G (p.His407Gln)
c.*197T>G (n.*197T>G)
c.298T>G
n.503T>G
c.981T>G (p.His327Gln)
c.333T>G (p.His111Gln)
4g.78865710T=CA1470731404BMP2Kc.1221T= (p.His407=)
c.*197T= (n.*197T=)
c.298T=
n.503T=
c.981T= (p.His327=)
c.333T= (p.His111=)
4g.78865711A>CCA439976729BMP2Kc.1222A>C (p.Arg408=)
c.*198A>C (n.*198A>C)
c.299A>C
n.504A>C
c.982A>C (p.Arg328=)
c.334A>C (p.Arg112=)
4g.78865711A>GCA357378714BMP2Kc.1222A>G (p.Arg408Gly)
c.*198A>G (n.*198A>G)
c.299A>G
n.504A>G
c.982A>G (p.Arg328Gly)
c.334A>G (p.Arg112Gly)
4g.78865711A>TCA357378715BMP2Kc.1222A>T (p.Arg408Ter)
c.*198A>T (n.*198A>T)
c.299A>T
n.504A>T
c.982A>T (p.Arg328Ter)
c.334A>T (p.Arg112Ter)
4g.78865712G>ACA357378716BMP2Kc.1223G>A (p.Arg408Lys)
c.*199G>A (n.*199G>A)
c.300G>A
n.505G>A
c.983G>A (p.Arg328Lys)
c.335G>A (p.Arg112Lys)
4g.78865712G>CCA357378717BMP2Kc.1223G>C (p.Arg408Thr)
c.*199G>C (n.*199G>C)
c.300G>C
n.505G>C
c.983G>C (p.Arg328Thr)
c.335G>C (p.Arg112Thr)
4g.78865712G=CA1470731410BMP2Kc.1223G= (p.Arg408=)
c.*199G= (n.*199G=)
c.300G=
n.505G=
c.983G= (p.Arg328=)
c.335G= (p.Arg112=)
4g.78865712G>TCA357378718BMP2Kc.1223G>T (p.Arg408Ile)
c.*199G>T (n.*199G>T)
c.300G>T
n.505G>T
c.983G>T (p.Arg328Ile)
c.335G>T (p.Arg112Ile)
 dbSNP gnomAD v3 gnomAD v4
4g.78865713A=CA1470731412BMP2Kc.1224A= (p.Arg408=)
c.*200A= (n.*200A=)
c.301A=
n.506A=
c.984A= (p.Arg328=)
c.336A= (p.Arg112=)
4g.78865713A>CCA357378719BMP2Kc.1224A>C (p.Arg408Ser)
c.*200A>C (n.*200A>C)
c.301A>C
n.506A>C
c.984A>C (p.Arg328Ser)
c.336A>C (p.Arg112Ser)
4g.78865713A>GCA439976734BMP2Kc.1224A>G (p.Arg408=)
c.*200A>G (n.*200A>G)
c.301A>G
n.506A>G
c.984A>G (p.Arg328=)
c.336A>G (p.Arg112=)
 gnomAD v4
4g.78865713A>TCA2980220BMP2Kc.1224A>T (p.Arg408Ser)
c.*200A>T (n.*200A>T)
c.301A>T
n.506A>T
c.984A>T (p.Arg328Ser)
c.336A>T (p.Arg112Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865714C>ACA357378720BMP2Kc.1225C>A (p.Pro409Thr)
c.*201C>A (n.*201C>A)
c.302C>A
n.507C>A
c.985C>A (p.Pro329Thr)
c.337C>A (p.Pro113Thr)
4g.78865714C>GCA357378721BMP2Kc.1225C>G (p.Pro409Ala)
c.*201C>G (n.*201C>G)
c.302C>G
n.507C>G
c.985C>G (p.Pro329Ala)
c.337C>G (p.Pro113Ala)
4g.78865714C>TCA357378722BMP2Kc.1225C>T (p.Pro409Ser)
c.*201C>T (n.*201C>T)
c.302C>T
n.507C>T
c.985C>T (p.Pro329Ser)
c.337C>T (p.Pro113Ser)
4g.78865715delCA2671157132BMP2Kc.1226del (p.Pro409GlnfsTer5)
c.*202del (n.*202del)
c.303del
n.508del
c.986del (p.Pro329GlnfsTer5)
c.338del (p.Pro113GlnfsTer5)
 gnomAD v4
4g.78865715C>ACA357378723BMP2Kc.1226C>A (p.Pro409Gln)
c.*202C>A (n.*202C>A)
c.303C>A
n.508C>A
c.986C>A (p.Pro329Gln)
c.338C>A (p.Pro113Gln)
4g.78865715C>GCA357378724BMP2Kc.1226C>G (p.Pro409Arg)
c.*202C>G (n.*202C>G)
c.303C>G
n.508C>G
c.986C>G (p.Pro329Arg)
c.338C>G (p.Pro113Arg)
4g.78865715C>TCA357378725BMP2Kc.1226C>T (p.Pro409Leu)
c.*202C>T (n.*202C>T)
c.303C>T
n.508C>T
c.986C>T (p.Pro329Leu)
c.338C>T (p.Pro113Leu)
4g.78865716A=CA1470731416BMP2Kc.1227A= (p.Pro409=)
c.*203A= (n.*203A=)
c.304A=
n.509A=
c.987A= (p.Pro329=)
c.339A= (p.Pro113=)
4g.78865716A>CCA439976743BMP2Kc.1227A>C (p.Pro409=)
c.*203A>C (n.*203A>C)
c.304A>C
n.509A>C
c.987A>C (p.Pro329=)
c.339A>C (p.Pro113=)
4g.78865716A>GCA439976745BMP2Kc.1227A>G (p.Pro409=)
c.*203A>G (n.*203A>G)
c.304A>G
n.509A>G
c.987A>G (p.Pro329=)
c.339A>G (p.Pro113=)
 dbSNP
4g.78865716A>TCA439976747BMP2Kc.1227A>T (p.Pro409=)
c.*203A>T (n.*203A>T)
c.304A>T
n.509A>T
c.987A>T (p.Pro329=)
c.339A>T (p.Pro113=)
4g.78865719delCA2553523110BMP2Kc.1230del (p.Ala412HisfsTer2)
c.*206del (n.*206del)
c.307del
n.512del
c.990del (p.Ala332HisfsTer2)
c.342del (p.Ala116HisfsTer2)
4g.78865716_78865717insCCCA2762313954BMP2Kc.1227_1228insCC (p.Lys410ProfsTer5)
c.*203_*204insCC (n.*203_*204insCC)
c.304_305insCC
n.509_510insCC
c.987_988insCC (p.Lys330ProfsTer5)
c.339_340insCC (p.Lys114ProfsTer5)
4g.78865717A=CA1470731420BMP2Kc.1228A= (p.Lys410=)
c.*204A= (n.*204A=)
c.305A=
n.510A=
c.988A= (p.Lys330=)
c.340A= (p.Lys114=)
4g.78865717A>CCA357378726BMP2Kc.1228A>C (p.Lys410Gln)
c.*204A>C (n.*204A>C)
c.305A>C
n.510A>C
c.988A>C (p.Lys330Gln)
c.340A>C (p.Lys114Gln)
4g.78865717A>GCA2980221BMP2Kc.1228A>G (p.Lys410Glu)
c.*204A>G (n.*204A>G)
c.305A>G
n.510A>G
c.988A>G (p.Lys330Glu)
c.340A>G (p.Lys114Glu)
 dbSNP ExAC gnomAD v2
4g.78865717A>TCA357378727BMP2Kc.1228A>T (p.Lys410Ter)
c.*204A>T (n.*204A>T)
c.305A>T
n.510A>T
c.988A>T (p.Lys330Ter)
c.340A>T (p.Lys114Ter)
4g.78865718A>CCA357378728BMP2Kc.1229A>C (p.Lys410Thr)
c.*205A>C (n.*205A>C)
c.306A>C
n.511A>C
c.989A>C (p.Lys330Thr)
c.341A>C (p.Lys114Thr)
4g.78865718A>GCA357378729BMP2Kc.1229A>G (p.Lys410Arg)
c.*205A>G (n.*205A>G)
c.306A>G
n.511A>G
c.989A>G (p.Lys330Arg)
c.341A>G (p.Lys114Arg)
4g.78865718A>TCA357378730BMP2Kc.1229A>T (p.Lys410Ile)
c.*205A>T (n.*205A>T)
c.306A>T
n.511A>T
c.989A>T (p.Lys330Ile)
c.341A>T (p.Lys114Ile)
4g.78865718_78865719insCACACCCAACACCA2762313955BMP2Kc.1229_1230insCACACCCAACAC (p.Lys410delinsAsnThrProAsnThr)
c.*205_*206insCACACCCAACAC (n.*205_*206insCACACCCAACAC)
c.306_307insCACACCCAACAC
n.511_512insCACACCCAACAC
c.989_990insCACACCCAACAC (p.Lys330delinsAsnThrProAsnThr)
c.341_342insCACACCCAACAC (p.Lys114delinsAsnThrProAsnThr)
4g.78865719A=CA1470731427BMP2Kc.1230A= (p.Lys410=)
c.*206A= (n.*206A=)
c.307A=
n.512A=
c.990A= (p.Lys330=)
c.342A= (p.Lys114=)
4g.78865719A>CCA2980222BMP2Kc.1230A>C (p.Lys410Asn)
c.*206A>C (n.*206A>C)
c.307A>C
n.512A>C
c.990A>C (p.Lys330Asn)
c.342A>C (p.Lys114Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865719A>GCA439976753BMP2Kc.1230A>G (p.Lys410=)
c.*206A>G (n.*206A>G)
c.307A>G
n.512A>G
c.990A>G (p.Lys330=)
c.342A>G (p.Lys114=)
4g.78865719A>TCA357378731BMP2Kc.1230A>T (p.Lys410Asn)
c.*206A>T (n.*206A>T)
c.307A>T
n.512A>T
c.990A>T (p.Lys330Asn)
c.342A>T (p.Lys114Asn)
4g.78865720G>ACA357378733BMP2Kc.1231G>A (p.Gly411Arg)
c.*207G>A (n.*207G>A)
c.308G>A
n.513G>A
c.991G>A (p.Gly331Arg)
c.343G>A (p.Gly115Arg)
4g.78865720G>CCA357378734BMP2Kc.1231G>C (p.Gly411Arg)
c.*207G>C (n.*207G>C)
c.308G>C
n.513G>C
c.991G>C (p.Gly331Arg)
c.343G>C (p.Gly115Arg)
 gnomAD v4
4g.78865720G>TCA357378732BMP2Kc.1231G>T (p.Gly411Trp)
c.*207G>T (n.*207G>T)
c.308G>T
n.513G>T
c.991G>T (p.Gly331Trp)
c.343G>T (p.Gly115Trp)
4g.78865721G>ACA2980223BMP2Kc.1231+1G>A (n.1231+1G>A)
c.*207+1G>A (n.*207+1G>A)
c.308+1G>A
n.514G>A
c.991+1G>A (n.991+1G>A)
c.343+1G>A (n.343+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.78865721G>CCA357378736BMP2Kc.1231+1G>C (n.1231+1G>C)
c.*207+1G>C (n.*207+1G>C)
c.308+1G>C
n.514G>C
c.991+1G>C (n.991+1G>C)
c.343+1G>C (n.343+1G>C)
4g.78865721G=CA1470731434BMP2Kc.1231+1G= (n.1231+1G=)
c.*207+1G= (n.*207+1G=)
c.308+1G=
n.514G=
c.991+1G= (n.991+1G=)
c.343+1G= (n.343+1G=)
4g.78865721G>TCA357378735BMP2Kc.1231+1G>T (n.1231+1G>T)
c.*207+1G>T (n.*207+1G>T)
c.308+1G>T
n.514G>T
c.991+1G>T (n.991+1G>T)
c.343+1G>T (n.343+1G>T)
4g.78865722T>ACA357378737BMP2Kc.1231+2T>A (n.1231+2T>A)
c.*207+2T>A (n.*207+2T>A)
c.308+2T>A
n.515T>A
c.991+2T>A (n.991+2T>A)
c.343+2T>A (n.343+2T>A)
4g.78865722T>CCA357378739BMP2Kc.1231+2T>C (n.1231+2T>C)
c.*207+2T>C (n.*207+2T>C)
c.308+2T>C
n.515T>C
c.991+2T>C (n.991+2T>C)
c.343+2T>C (n.343+2T>C)
4g.78865722T>GCA357378738BMP2Kc.1231+2T>G (n.1231+2T>G)
c.*207+2T>G (n.*207+2T>G)
c.308+2T>G
n.515T>G
c.991+2T>G (n.991+2T>G)
c.343+2T>G (n.343+2T>G)
4g.78865723_78865724insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTACA2980224BMP2Kc.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA (n.1231+3_1231+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA)
c.*207+3_*207+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA (n.*207+3_*207+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA)
c.308+3_308+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA
n.516_517insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA
c.991+3_991+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA (n.991+3_991+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA)
c.343+3_343+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA (n.343+3_343+4insTCTGTTATTCTACAACAGAAGAATATATTTCATTCTAAATACTGGGATTATTTCTA)
 ExAC
4g.78865723_78865724insTCTGTTCA2762313956BMP2Kc.1231+3_1231+4insTCTGTT (n.1231+3_1231+4insTCTGTT)
c.*207+3_*207+4insTCTGTT (n.*207+3_*207+4insTCTGTT)
c.308+3_308+4insTCTGTT
n.516_517insTCTGTT
c.991+3_991+4insTCTGTT (n.991+3_991+4insTCTGTT)
c.343+3_343+4insTCTGTT (n.343+3_343+4insTCTGTT)
4g.78865724A=CA1470731440BMP2Kc.1231+4A= (n.1231+4A=)
c.*207+4A= (n.*207+4A=)
c.308+4A=
n.517A=
c.991+4A= (n.991+4A=)
c.343+4A= (n.343+4A=)
4g.78865724A>GCA2980225BMP2Kc.1231+4A>G (n.1231+4A>G)
c.*207+4A>G (n.*207+4A>G)
c.308+4A>G
n.517A>G
c.991+4A>G (n.991+4A>G)
c.343+4A>G (n.343+4A>G)
 dbSNP ExAC gnomAD v2
4g.78865725T>ACA2762313957BMP2Kc.1231+5T>A (n.1231+5T>A)
c.*207+5T>A (n.*207+5T>A)
c.308+5T>A
n.518T>A
c.991+5T>A (n.991+5T>A)
c.343+5T>A (n.343+5T>A)
4g.78865726A=CA1470731441BMP2Kc.1231+6A= (n.1231+6A=)
c.*207+6A= (n.*207+6A=)
c.308+6A=
n.519A=
c.991+6A= (n.991+6A=)
c.343+6A= (n.343+6A=)
4g.78865726A>GCA553081983BMP2Kc.1231+6A>G (n.1231+6A>G)
c.*207+6A>G (n.*207+6A>G)
c.308+6A>G
n.519A>G
c.991+6A>G (n.991+6A>G)
c.343+6A>G (n.343+6A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.78865727G>CCA553081984BMP2Kc.1231+7G>C (n.1231+7G>C)
c.*207+7G>C (n.*207+7G>C)
c.308+7G>C
n.520G>C
c.991+7G>C (n.991+7G>C)
c.343+7G>C (n.343+7G>C)
 dbSNP gnomAD v2 gnomAD v4
4g.78865727G=CA1470731444BMP2Kc.1231+7G= (n.1231+7G=)
c.*207+7G= (n.*207+7G=)
c.308+7G=
n.520G=
c.991+7G= (n.991+7G=)
c.343+7G= (n.343+7G=)
4g.78865730C>ACA2578125476BMP2Kc.1231+10C>A (n.1231+10C>A)
c.*207+10C>A (n.*207+10C>A)
c.308+10C>A
n.523C>A
c.991+10C>A (n.991+10C>A)
c.343+10C>A (n.343+10C>A)
 dbSNP
4g.78865730C=CA1470731448BMP2Kc.1231+10C= (n.1231+10C=)
c.*207+10C= (n.*207+10C=)
c.308+10C=
n.523C=
c.991+10C= (n.991+10C=)
c.343+10C= (n.343+10C=)
4g.78865730C>GCA99975262BMP2Kc.1231+10C>G (n.1231+10C>G)
c.*207+10C>G (n.*207+10C>G)
c.308+10C>G
n.523C>G
c.991+10C>G (n.991+10C>G)
c.343+10C>G (n.343+10C>G)
 dbSNP
4g.78865731C>ACA1064490429BMP2Kc.1231+11C>A (n.1231+11C>A)
c.*207+11C>A (n.*207+11C>A)
c.308+11C>A
n.524C>A
c.991+11C>A (n.991+11C>A)
c.343+11C>A (n.343+11C>A)
 dbSNP gnomAD v3 gnomAD v4
4g.78865731C=CA1470731452BMP2Kc.1231+11C= (n.1231+11C=)
c.*207+11C= (n.*207+11C=)
c.308+11C=
n.524C=
c.991+11C= (n.991+11C=)
c.343+11C= (n.343+11C=)
4g.78865731C>TCA99975266BMP2Kc.1231+11C>T (n.1231+11C>T)
c.*207+11C>T (n.*207+11C>T)
c.308+11C>T
n.524C>T
c.991+11C>T (n.991+11C>T)
c.343+11C>T (n.343+11C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.78865732C>TCA2578125477BMP2Kc.1231+12C>T (n.1231+12C>T)
c.*207+12C>T (n.*207+12C>T)
c.308+12C>T
n.525C>T
c.991+12C>T (n.991+12C>T)
c.343+12C>T (n.343+12C>T)
4g.78865733C=CA1470731455BMP2Kc.1231+13C= (n.1231+13C=)
c.*207+13C= (n.*207+13C=)
c.308+13C=
n.526C=
c.991+13C= (n.991+13C=)
c.343+13C= (n.343+13C=)
4g.78865733C>GCA1470731457BMP2Kc.1231+13C>G (n.1231+13C>G)
c.*207+13C>G (n.*207+13C>G)
c.308+13C>G
n.526C>G
c.991+13C>G (n.991+13C>G)
c.343+13C>G (n.343+13C>G)
 dbSNP gnomAD v4
4g.78865733C>TCA2980226BMP2Kc.1231+13C>T (n.1231+13C>T)
c.*207+13C>T (n.*207+13C>T)
c.308+13C>T
n.526C>T
c.991+13C>T (n.991+13C>T)
c.343+13C>T (n.343+13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865734G>ACA2980227BMP2Kc.1231+14G>A (n.1231+14G>A)
c.*207+14G>A (n.*207+14G>A)
c.308+14G>A
n.527G>A
c.991+14G>A (n.991+14G>A)
c.343+14G>A (n.343+14G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.78865734G=CA1470731460BMP2Kc.1231+14G= (n.1231+14G=)
c.*207+14G= (n.*207+14G=)
c.308+14G=
n.527G=
c.991+14G= (n.991+14G=)
c.343+14G= (n.343+14G=)
4g.78865734G>TCA2671157133BMP2Kc.1231+14G>T (n.1231+14G>T)
c.*207+14G>T (n.*207+14G>T)
c.308+14G>T
n.527G>T
c.991+14G>T (n.991+14G>T)
c.343+14G>T (n.343+14G>T)
 gnomAD v4
4g.78865736C>TCA2762313958BMP2Kc.1231+16C>T (n.1231+16C>T)
c.*207+16C>T (n.*207+16C>T)
c.308+16C>T
n.529C>T
c.991+16C>T (n.991+16C>T)
c.343+16C>T (n.343+16C>T)
4g.78865738A=CA1470731466BMP2Kc.1231+18A= (n.1231+18A=)
c.*207+18A= (n.*207+18A=)
c.308+18A=
n.531A=
c.991+18A= (n.991+18A=)
c.343+18A= (n.343+18A=)
4g.78865738A>GCA2980228BMP2Kc.1231+18A>G (n.1231+18A>G)
c.*207+18A>G (n.*207+18A>G)
c.308+18A>G
n.531A>G
c.991+18A>G (n.991+18A>G)
c.343+18A>G (n.343+18A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.78865738A>TCA553081985BMP2Kc.1231+18A>T (n.1231+18A>T)
c.*207+18A>T (n.*207+18A>T)
c.308+18A>T
n.531A>T
c.991+18A>T (n.991+18A>T)
c.343+18A>T (n.343+18A>T)
 dbSNP gnomAD v2 gnomAD v4
4g.78865739C>ACA99975269BMP2Kc.1231+19C>A (n.1231+19C>A)
c.*207+19C>A (n.*207+19C>A)
c.308+19C>A
n.532C>A
c.991+19C>A (n.991+19C>A)
c.343+19C>A (n.343+19C>A)
 dbSNP
4g.78865739C=CA1470731472BMP2Kc.1231+19C= (n.1231+19C=)
c.*207+19C= (n.*207+19C=)
c.308+19C=
n.532C=
c.991+19C= (n.991+19C=)
c.343+19C= (n.343+19C=)
4g.78865739C>GCA2762313959BMP2Kc.1231+19C>G (n.1231+19C>G)
c.*207+19C>G (n.*207+19C>G)
c.308+19C>G
n.532C>G
c.991+19C>G (n.991+19C>G)
c.343+19C>G (n.343+19C>G)
4g.78865739C>TCA553081986BMP2Kc.1231+19C>T (n.1231+19C>T)
c.*207+19C>T (n.*207+19C>T)
c.308+19C>T
n.532C>T
c.991+19C>T (n.991+19C>T)
c.343+19C>T (n.343+19C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.78865740C>TCA2671157134BMP2Kc.1231+20C>T (n.1231+20C>T)
c.*207+20C>T (n.*207+20C>T)
c.308+20C>T
n.533C>T
c.991+20C>T (n.991+20C>T)
c.343+20C>T (n.343+20C>T)
 gnomAD v4
4g.78865740_78865741insAACCCCAAACACACCCAACCA2762313960BMP2Kc.1231+20_1231+21insAACCCCAAACACACCCAAC (n.1231+20_1231+21insAACCCCAAACACACCCAAC)
c.*207+20_*207+21insAACCCCAAACACACCCAAC (n.*207+20_*207+21insAACCCCAAACACACCCAAC)
c.308+20_308+21insAACCCCAAACACACCCAAC
n.533_534insAACCCCAAACACACCCAAC
c.991+20_991+21insAACCCCAAACACACCCAAC (n.991+20_991+21insAACCCCAAACACACCCAAC)
c.343+20_343+21insAACCCCAAACACACCCAAC (n.343+20_343+21insAACCCCAAACACACCCAAC)
4g.78865741T>ACA2762313961BMP2Kc.1231+21T>A (n.1231+21T>A)
c.*207+21T>A (n.*207+21T>A)
c.308+21T>A
n.534T>A
c.991+21T>A (n.991+21T>A)
c.343+21T>A (n.343+21T>A)
4g.78865742C>TCA2762313962BMP2Kc.1231+22C>T (n.1231+22C>T)
c.*207+22C>T (n.*207+22C>T)
c.308+22C>T
n.535C>T
c.991+22C>T (n.991+22C>T)
c.343+22C>T (n.343+22C>T)
4g.78865743A=CA1470731474BMP2Kc.1231+23A= (n.1231+23A=)
c.*207+23A= (n.*207+23A=)
c.308+23A=
n.536A=
c.991+23A= (n.991+23A=)
c.343+23A= (n.343+23A=)
4g.78865743A>CCA2578125478BMP2Kc.1231+23A>C (n.1231+23A>C)
c.*207+23A>C (n.*207+23A>C)
c.308+23A>C
n.536A>C
c.991+23A>C (n.991+23A>C)
c.343+23A>C (n.343+23A>C)
 gnomAD v4
4g.78865743A>TCA798801935BMP2Kc.1231+23A>T (n.1231+23A>T)
c.*207+23A>T (n.*207+23A>T)
c.308+23A>T
n.536A>T
c.991+23A>T (n.991+23A>T)
c.343+23A>T (n.343+23A>T)
 dbSNP gnomAD v4
4g.78865743_78865744insACAGATACATTCA2538012305BMP2Kc.1231+23_1231+24insACAGATACATT (n.1231+23_1231+24insACAGATACATT)
c.*207+23_*207+24insACAGATACATT (n.*207+23_*207+24insACAGATACATT)
c.308+23_308+24insACAGATACATT
n.536_537insACAGATACATT
c.991+23_991+24insACAGATACATT (n.991+23_991+24insACAGATACATT)
c.343+23_343+24insACAGATACATT (n.343+23_343+24insACAGATACATT)
4g.78865745C>ACA2671157135BMP2Kc.1231+25C>A (n.1231+25C>A)
c.*207+25C>A (n.*207+25C>A)
c.308+25C>A
n.538C>A
c.991+25C>A (n.991+25C>A)
c.343+25C>A (n.343+25C>A)
 gnomAD v4
4g.78865745C=CA1470731477BMP2Kc.1231+25C= (n.1231+25C=)
c.*207+25C= (n.*207+25C=)
c.308+25C=
n.538C=
c.991+25C= (n.991+25C=)
c.343+25C= (n.343+25C=)
4g.78865745C>TCA553081987BMP2Kc.1231+25C>T (n.1231+25C>T)
c.*207+25C>T (n.*207+25C>T)
c.308+25C>T
n.538C>T
c.991+25C>T (n.991+25C>T)
c.343+25C>T (n.343+25C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.78865746C>ACA1064490438BMP2Kc.1231+26C>A (n.1231+26C>A)
c.*207+26C>A (n.*207+26C>A)
c.308+26C>A
n.539C>A
c.991+26C>A (n.991+26C>A)
c.343+26C>A (n.343+26C>A)
 dbSNP gnomAD v3 gnomAD v4
4g.78865746C=CA1470731480BMP2Kc.1231+26C= (n.1231+26C=)
c.*207+26C= (n.*207+26C=)
c.308+26C=
n.539C=
c.991+26C= (n.991+26C=)
c.343+26C= (n.343+26C=)
4g.78865746C>TCA1470731479BMP2Kc.1231+26C>T (n.1231+26C>T)
c.*207+26C>T (n.*207+26C>T)
c.308+26C>T
n.539C>T
c.991+26C>T (n.991+26C>T)
c.343+26C>T (n.343+26C>T)
 dbSNP
4g.78865747T>CCA1470731484BMP2Kc.1231+27T>C (n.1231+27T>C)
c.*207+27T>C (n.*207+27T>C)
c.308+27T>C
n.540T>C
c.991+27T>C (n.991+27T>C)
c.343+27T>C (n.343+27T>C)
 dbSNP
4g.78865747T>GCA2706199634BMP2Kc.1231+27T>G (n.1231+27T>G)
c.*207+27T>G (n.*207+27T>G)
c.308+27T>G
n.540T>G
c.991+27T>G (n.991+27T>G)
c.343+27T>G (n.343+27T>G)
 dbSNP
4g.78865747T=CA1470731482BMP2Kc.1231+27T= (n.1231+27T=)
c.*207+27T= (n.*207+27T=)
c.308+27T=
n.540T=
c.991+27T= (n.991+27T=)
c.343+27T= (n.343+27T=)
4g.78865748C=CA1470731503BMP2Kc.1231+28C= (n.1231+28C=)
c.*207+28C= (n.*207+28C=)
c.308+28C=
n.541C=
c.991+28C= (n.991+28C=)
c.343+28C= (n.343+28C=)
4g.78865748C>TCA1470731504BMP2Kc.1231+28C>T (n.1231+28C>T)
c.*207+28C>T (n.*207+28C>T)
c.308+28C>T
n.541C>T
c.991+28C>T (n.991+28C>T)
c.343+28C>T (n.343+28C>T)
 dbSNP
4g.78865749T>ACA2671157137BMP2Kc.1231+29T>A (n.1231+29T>A)
c.*207+29T>A (n.*207+29T>A)
c.308+29T>A
n.542T>A
c.991+29T>A (n.991+29T>A)
c.343+29T>A (n.343+29T>A)
 gnomAD v4
4g.78865749T>CCA2671157138BMP2Kc.1231+29T>C (n.1231+29T>C)
c.*207+29T>C (n.*207+29T>C)
c.308+29T>C
n.542T>C
c.991+29T>C (n.991+29T>C)
c.343+29T>C (n.343+29T>C)
 gnomAD v4
4g.78865749T>GCA1470731509BMP2Kc.1231+29T>G (n.1231+29T>G)
c.*207+29T>G (n.*207+29T>G)
c.308+29T>G
n.542T>G
c.991+29T>G (n.991+29T>G)
c.343+29T>G (n.343+29T>G)
 dbSNP gnomAD v4
4g.78865749T=CA1470731507BMP2Kc.1231+29T= (n.1231+29T=)
c.*207+29T= (n.*207+29T=)
c.308+29T=
n.542T=
c.991+29T= (n.991+29T=)
c.343+29T= (n.343+29T=)
4g.78865750dupCA2671157136BMP2Kc.1231+30dup (n.1231+30dup)
c.*207+30dup (n.*207+30dup)
c.308+30dup
n.543dup
c.991+30dup (n.991+30dup)
c.343+30dup (n.343+30dup)
 gnomAD v4

Number of alleles fetched