| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.53950700_53950722del | CA2740097932 | BMP4 | c.539_561del (p.Ile180SerfsTer29) c.397_419del (n.397_419del) c.350_372del (p.Ile117SerfsTer29) c.680_702del (p.Ile227SerfsTer29) | |
| 14 | g.53950704C>A | CA389784437 | BMP4 | c.555G>T (p.Lys185Asn) c.413G>T (n.413G>T) c.366G>T (p.Lys122Asn) c.696G>T (p.Lys232Asn) | |
| 14 | g.53950704C>G | CA389784438 | BMP4 | c.555G>C (p.Lys185Asn) c.413G>C (n.413G>C) c.366G>C (p.Lys122Asn) c.696G>C (p.Lys232Asn) | |
| 14 | g.53950704C>T | CA486658422 | BMP4 | c.555G>A (p.Lys185=) c.413G>A (n.413G>A) c.366G>A (p.Lys122=) c.696G>A (p.Lys232=) | |
| 14 | g.53950705T>A | CA389784439 | BMP4 | c.554A>T (p.Lys185Met) c.412A>T (n.412A>T) c.365A>T (p.Lys122Met) c.695A>T (p.Lys232Met) | |
| 14 | g.53950705T>C | CA389784441 | BMP4 | c.554A>G (p.Lys185Arg) c.412A>G (n.412A>G) c.365A>G (p.Lys122Arg) c.695A>G (p.Lys232Arg) | |
| 14 | g.53950705T>G | CA389784440 | BMP4 | c.554A>C (p.Lys185Thr) c.412A>C (n.412A>C) c.365A>C (p.Lys122Thr) c.695A>C (p.Lys232Thr) | |
| 14 | g.53950706T>A | CA389784442 | BMP4 | c.553A>T (p.Lys185Ter) c.411A>T (n.411A>T) c.364A>T (p.Lys122Ter) c.694A>T (p.Lys232Ter) | |
| 14 | g.53950706T>C | CA389784443 | BMP4 | c.553A>G (p.Lys185Glu) c.411A>G (n.411A>G) c.364A>G (p.Lys122Glu) c.694A>G (p.Lys232Glu) | |
| 14 | g.53950706T>G | CA389784444 | BMP4 | c.553A>C (p.Lys185Gln) c.411A>C (n.411A>C) c.364A>C (p.Lys122Gln) c.694A>C (p.Lys232Gln) | |
| 14 | g.53950707C>A | CA389784445 | BMP4 | c.552G>T (p.Met184Ile) c.410G>T (n.410G>T) c.363G>T (p.Met121Ile) c.693G>T (p.Met231Ile) | |
| 14 | g.53950707C= | CA2137817656 | BMP4 | c.552G= (p.Met184=) c.410G= (n.410G=) c.363G= (p.Met121=) c.693G= (p.Met231=) | |
| 14 | g.53950707C>G | CA389784446 | BMP4 | c.552G>C (p.Met184Ile) c.410G>C (n.410G>C) c.363G>C (p.Met121Ile) c.693G>C (p.Met231Ile) | |
| 14 | g.53950707C>T | CA389784447 | BMP4 | c.552G>A (p.Met184Ile) c.410G>A (n.410G>A) c.363G>A (p.Met121Ile) c.693G>A (p.Met231Ile) | |
| 14 | g.53950708A= | CA2137817660 | BMP4 | c.551T= (p.Met184=) c.409T= (n.409T=) c.362T= (p.Met121=) c.692T= (p.Met231=) | |
| 14 | g.53950708A>C | CA389784450 | BMP4 | c.551T>G (p.Met184Arg) c.409T>G (n.409T>G) c.362T>G (p.Met121Arg) c.692T>G (p.Met231Arg) | |
| 14 | g.53950708A>G | CA389784449 | BMP4 | c.551T>C (p.Met184Thr) c.409T>C (n.409T>C) c.362T>C (p.Met121Thr) c.692T>C (p.Met231Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53950708A>T | CA389784448 | BMP4 | c.551T>A (p.Met184Lys) c.409T>A (n.409T>A) c.362T>A (p.Met121Lys) c.692T>A (p.Met231Lys) | |
| 14 | g.53950711_53950728dup | CA614278085 | BMP4 | c.534_551dup (p.Val183_Met184insIleAsnIleTyrGluVal) c.392_409dup (n.392_409dup) c.345_362dup (p.Val120_Met121insIleAsnIleTyrGluVal) c.675_692dup (p.Val230_Met231insIleAsnIleTyrGluVal) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53950709T>A | CA389784451 | BMP4 | c.550A>T (p.Met184Leu) c.408A>T (n.408A>T) c.361A>T (p.Met121Leu) c.691A>T (p.Met231Leu) | |
| 14 | g.53950709T>C | CA7191720 | BMP4 | c.550A>G (p.Met184Val) c.408A>G (n.408A>G) c.361A>G (p.Met121Val) c.691A>G (p.Met231Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.53950709T>G | CA389784452 | BMP4 | c.550A>C (p.Met184Leu) c.408A>C (n.408A>C) c.361A>C (p.Met121Leu) c.691A>C (p.Met231Leu) | |
| 14 | g.53950709T= | CA2137817663 | BMP4 | c.550A= (p.Met184=) c.408A= (n.408A=) c.361A= (p.Met121=) c.691A= (p.Met231=) | |
| 14 | g.53950710A>C | CA486658429 | BMP4 | c.549T>G (p.Val183=) c.407T>G (n.407T>G) c.360T>G (p.Val120=) c.690T>G (p.Val230=) | |
| 14 | g.53950710A>G | CA486658430 | BMP4 | c.549T>C (p.Val183=) c.407T>C (n.407T>C) c.360T>C (p.Val120=) c.690T>C (p.Val230=) | |
| 14 | g.53950710A>T | CA486658431 | BMP4 | c.549T>A (p.Val183=) c.407T>A (n.407T>A) c.360T>A (p.Val120=) c.690T>A (p.Val230=) | |
| 14 | g.53950711A>C | CA389784453 | BMP4 | c.548T>G (p.Val183Gly) c.406T>G (n.406T>G) c.359T>G (p.Val120Gly) c.689T>G (p.Val230Gly) | |
| 14 | g.53950711A>G | CA389784454 | BMP4 | c.548T>C (p.Val183Ala) c.406T>C (n.406T>C) c.359T>C (p.Val120Ala) c.689T>C (p.Val230Ala) | |
| 14 | g.53950711A>T | CA389784455 | BMP4 | c.548T>A (p.Val183Asp) c.406T>A (n.406T>A) c.359T>A (p.Val120Asp) c.689T>A (p.Val230Asp) | |
| 14 | g.53950712C>A | CA389784456 | BMP4 | c.547G>T (p.Val183Phe) c.405G>T (n.405G>T) c.358G>T (p.Val120Phe) c.688G>T (p.Val230Phe) | |
| 14 | g.53950712C= | CA2137817666 | BMP4 | c.547G= (p.Val183=) c.405G= (n.405G=) c.358G= (p.Val120=) c.688G= (p.Val230=) | |
| 14 | g.53950712C>G | CA389784457 | BMP4 | c.547G>C (p.Val183Leu) c.405G>C (n.405G>C) c.358G>C (p.Val120Leu) c.688G>C (p.Val230Leu) | |
| 14 | g.53950712C>T | CA261472678 | BMP4 | c.547G>A (p.Val183Ile) c.405G>A (n.405G>A) c.358G>A (p.Val120Ile) c.688G>A (p.Val230Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950713C>A | CA389784458 | BMP4 | c.546G>T (p.Glu182Asp) c.404G>T (n.404G>T) c.357G>T (p.Glu119Asp) c.687G>T (p.Glu229Asp) | |
| 14 | g.53950713C= | CA2137817669 | BMP4 | c.546G= (p.Glu182=) c.404G= (n.404G=) c.357G= (p.Glu119=) c.687G= (p.Glu229=) | |
| 14 | g.53950713C>G | CA389784459 | BMP4 | c.546G>C (p.Glu182Asp) c.404G>C (n.404G>C) c.357G>C (p.Glu119Asp) c.687G>C (p.Glu229Asp) | |
| 14 | g.53950713C>T | CA7191721 | BMP4 | c.546G>A (p.Glu182=) c.404G>A (n.404G>A) c.357G>A (p.Glu119=) c.687G>A (p.Glu229=) | dbSNP ExAC gnomAD v2 |
| 14 | g.53950714T>A | CA389784460 | BMP4 | c.545A>T (p.Glu182Val) c.403A>T (n.403A>T) c.356A>T (p.Glu119Val) c.686A>T (p.Glu229Val) | |
| 14 | g.53950714T>C | CA389784461 | BMP4 | c.545A>G (p.Glu182Gly) c.403A>G (n.403A>G) c.356A>G (p.Glu119Gly) c.686A>G (p.Glu229Gly) | |
| 14 | g.53950714T>G | CA389784462 | BMP4 | c.545A>C (p.Glu182Ala) c.403A>C (n.403A>C) c.356A>C (p.Glu119Ala) c.686A>C (p.Glu229Ala) | |
| 14 | g.53950715C>A | CA389784463 | BMP4 | c.544G>T (p.Glu182Ter) c.402G>T (n.402G>T) c.355G>T (p.Glu119Ter) c.685G>T (p.Glu229Ter) | |
| 14 | g.53950715C>G | CA389784464 | BMP4 | c.544G>C (p.Glu182Gln) c.402G>C (n.402G>C) c.355G>C (p.Glu119Gln) c.685G>C (p.Glu229Gln) | |
| 14 | g.53950715C>T | CA389784465 | BMP4 | c.544G>A (p.Glu182Lys) c.402G>A (n.402G>A) c.355G>A (p.Glu119Lys) c.685G>A (p.Glu229Lys) | |
| 14 | g.53950716A= | CA2137817672 | BMP4 | c.543T= (p.Tyr181=) c.401T= (n.401T=) c.354T= (p.Tyr118=) c.684T= (p.Tyr228=) | |
| 14 | g.53950716A>C | CA389784466 | BMP4 | c.543T>G (p.Tyr181Ter) c.401T>G (n.401T>G) c.354T>G (p.Tyr118Ter) c.684T>G (p.Tyr228Ter) | |
| 14 | g.53950716A>G | CA486658450 | BMP4 | c.543T>C (p.Tyr181=) c.401T>C (n.401T>C) c.354T>C (p.Tyr118=) c.684T>C (p.Tyr228=) | dbSNP gnomAD v4 |
| 14 | g.53950716A>T | CA389784467 | BMP4 | c.543T>A (p.Tyr181Ter) c.401T>A (n.401T>A) c.354T>A (p.Tyr118Ter) c.684T>A (p.Tyr228Ter) | |
| 14 | g.53950717T>A | CA389784470 | BMP4 | c.542A>T (p.Tyr181Phe) c.400A>T (n.400A>T) c.353A>T (p.Tyr118Phe) c.683A>T (p.Tyr228Phe) | |
| 14 | g.53950717T>C | CA389784468 | BMP4 | c.542A>G (p.Tyr181Cys) c.400A>G (n.400A>G) c.353A>G (p.Tyr118Cys) c.683A>G (p.Tyr228Cys) | |
| 14 | g.53950717T>G | CA389784469 | BMP4 | c.542A>C (p.Tyr181Ser) c.400A>C (n.400A>C) c.353A>C (p.Tyr118Ser) c.683A>C (p.Tyr228Ser) |