| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.78865702G>A | CA2980216 | BMP2K | c.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 |
| 4 | g.78865702G>C | CA357378697 | BMP2K | c.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) | |
| 4 | g.78865702G= | CA1470731378 | BMP2K | c.1213G= (p.Gly405=) c.*189G= (n.*189G=) c.290G= n.495G= c.973G= (p.Gly325=) c.325G= (p.Gly109=) | |
| 4 | g.78865702G>T | CA357378698 | BMP2K | c.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) | |
| 4 | g.78865703G>A | CA357378699 | BMP2K | c.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 |
| 4 | g.78865703G>C | CA357378700 | BMP2K | c.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 |
| 4 | g.78865703G= | CA1470731383 | BMP2K | c.1214G= (p.Gly405=) c.*190G= (n.*190G=) c.291G= n.496G= c.974G= (p.Gly325=) c.326G= (p.Gly109=) | |
| 4 | g.78865703G>T | CA357378701 | BMP2K | c.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) | |
| 4 | g.78865704T>A | CA439976711 | BMP2K | c.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=) | |
| 4 | g.78865704T>C | CA439976712 | BMP2K | c.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=) | |
| 4 | g.78865704T>G | CA439976714 | BMP2K | c.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=) | |
| 4 | g.78865705A>C | CA357378702 | BMP2K | c.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) | |
| 4 | g.78865705A>G | CA357378703 | BMP2K | c.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) | |
| 4 | g.78865705A>T | CA357378704 | BMP2K | c.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) | |
| 4 | g.78865706A= | CA1470731387 | BMP2K | c.1217A= (p.Asn406=) c.*193A= (n.*193A=) c.294A= n.499A= c.977A= (p.Asn326=) c.329A= (p.Asn110=) | |
| 4 | g.78865706A>C | CA357378705 | BMP2K | c.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) | |
| 4 | g.78865706A>G | CA2980217 | BMP2K | c.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 |
| 4 | g.78865706A>T | CA357378706 | BMP2K | c.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) | |
| 4 | g.78865707C>A | CA2980218 | BMP2K | c.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 |
| 4 | g.78865707C= | CA1470731393 | BMP2K | c.1218C= (p.Asn406=) c.*194C= (n.*194C=) c.295C= n.500C= c.978C= (p.Asn326=) c.330C= (p.Asn110=) | |
| 4 | g.78865707C>G | CA357378707 | BMP2K | c.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 |
| 4 | g.78865707C>T | CA439976721 | BMP2K | c.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=) | |
| 4 | g.78865708C>A | CA357378708 | BMP2K | c.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) | |
| 4 | g.78865708C>G | CA357378709 | BMP2K | c.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) | |
| 4 | g.78865708C>T | CA357378710 | BMP2K | c.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) | |
| 4 | g.78865709del | CA2671157131 | BMP2K | c.1220del (p.His407LeufsTer7) c.*196del (n.*196del) c.297del n.502del c.980del (p.His327LeufsTer7) c.332del (p.His111LeufsTer7) | gnomAD v4 |
| 4 | g.78865709A= | CA1470731397 | BMP2K | c.1220A= (p.His407=) c.*196A= (n.*196A=) c.297A= n.502A= c.980A= (p.His327=) c.332A= (p.His111=) | |
| 4 | g.78865709A>C | CA357378711 | BMP2K | c.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) | |
| 4 | g.78865709A>G | CA99975241 | BMP2K | c.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 |
| 4 | g.78865709A>T | CA357378712 | BMP2K | c.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) | |
| 4 | g.78865710T>A | CA2980219 | BMP2K | c.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 |
| 4 | g.78865710T>C | CA439976727 | BMP2K | c.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 |
| 4 | g.78865710T>G | CA357378713 | BMP2K | c.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) | |
| 4 | g.78865710T= | CA1470731404 | BMP2K | c.1221T= (p.His407=) c.*197T= (n.*197T=) c.298T= n.503T= c.981T= (p.His327=) c.333T= (p.His111=) | |
| 4 | g.78865711A>C | CA439976729 | BMP2K | c.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=) | |
| 4 | g.78865711A>G | CA357378714 | BMP2K | c.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) | |
| 4 | g.78865711A>T | CA357378715 | BMP2K | c.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) | |
| 4 | g.78865712G>A | CA357378716 | BMP2K | c.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) | |
| 4 | g.78865712G>C | CA357378717 | BMP2K | c.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) | |
| 4 | g.78865712G= | CA1470731410 | BMP2K | c.1223G= (p.Arg408=) c.*199G= (n.*199G=) c.300G= n.505G= c.983G= (p.Arg328=) c.335G= (p.Arg112=) | |
| 4 | g.78865712G>T | CA357378718 | BMP2K | c.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 |
| 4 | g.78865713A= | CA1470731412 | BMP2K | c.1224A= (p.Arg408=) c.*200A= (n.*200A=) c.301A= n.506A= c.984A= (p.Arg328=) c.336A= (p.Arg112=) | |
| 4 | g.78865713A>C | CA357378719 | BMP2K | c.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) | |
| 4 | g.78865713A>G | CA439976734 | BMP2K | c.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 |
| 4 | g.78865713A>T | CA2980220 | BMP2K | c.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 |
| 4 | g.78865714C>A | CA357378720 | BMP2K | c.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) | |
| 4 | g.78865714C>G | CA357378721 | BMP2K | c.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) | |
| 4 | g.78865714C>T | CA357378722 | BMP2K | c.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) | |
| 4 | g.78865715del | CA2671157132 | BMP2K | c.1226del (p.Pro409GlnfsTer5) c.*202del (n.*202del) c.303del n.508del c.986del (p.Pro329GlnfsTer5) c.338del (p.Pro113GlnfsTer5) | gnomAD v4 |
| 4 | g.78865715C>A | CA357378723 | BMP2K | c.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) |