| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.6778368T>A | CA408258399 | BMP2 | c.470T>A (p.Met157Lys) c.2T>A (p.Met1Lys) | |
| 20 | g.6778368T>C | CA408258400 | BMP2 | c.470T>C (p.Met157Thr) c.2T>C (p.Met1Thr) | dbSNP gnomAD v4 |
| 20 | g.6778368T>G | CA408258401 | BMP2 | c.470T>G (p.Met157Arg) c.2T>G (p.Met1Arg) | |
| 20 | g.6778368T= | CA2348112087 | BMP2 | c.470T= (p.Met157=) c.2T= (p.Met1=) | |
| 20 | g.6778369G>A | CA408258402 | BMP2 | c.471G>A (p.Met157Ile) c.3G>A (p.Met1Ile) | dbSNP |
| 20 | g.6778369G>C | CA408258403 | BMP2 | c.471G>C (p.Met157Ile) c.3G>C (p.Met1Ile) | |
| 20 | g.6778369G>T | CA408258404 | BMP2 | c.471G>T (p.Met157Ile) c.3G>T (p.Met1Ile) | |
| 20 | g.6778370C>A | CA408258407 | BMP2 | c.472C>A (p.Gln158Lys) c.4C>A (p.Gln2Lys) | |
| 20 | g.6778370C>G | CA408258405 | BMP2 | c.472C>G (p.Gln158Glu) c.4C>G (p.Gln2Glu) | |
| 20 | g.6778370C>T | CA408258406 | BMP2 | c.472C>T (p.Gln158Ter) c.4C>T (p.Gln2Ter) | |
| 20 | g.6778371A>C | CA408258408 | BMP2 | c.473A>C (p.Gln158Pro) c.5A>C (p.Gln2Pro) | |
| 20 | g.6778371A>G | CA408258409 | BMP2 | c.473A>G (p.Gln158Arg) c.5A>G (p.Gln2Arg) | dbSNP |
| 20 | g.6778371A>T | CA408258410 | BMP2 | c.473A>T (p.Gln158Leu) c.5A>T (p.Gln2Leu) | |
| 20 | g.6778372A>C | CA408258411 | BMP2 | c.474A>C (p.Gln158His) c.6A>C (p.Gln2His) | |
| 20 | g.6778372A>G | CA509684431 | BMP2 | c.474A>G (p.Gln158=) c.6A>G (p.Gln2=) | gnomAD v4 |
| 20 | g.6778372A>T | CA408258412 | BMP2 | c.474A>T (p.Gln158His) c.6A>T (p.Gln2His) | |
| 20 | g.6778373G>A | CA408258413 | BMP2 | c.475G>A (p.Asp159Asn) c.7G>A (p.Asp3Asn) | |
| 20 | g.6778373G>C | CA408258415 | BMP2 | c.475G>C (p.Asp159His) c.7G>C (p.Asp3His) | |
| 20 | g.6778373G>T | CA408258414 | BMP2 | c.475G>T (p.Asp159Tyr) c.7G>T (p.Asp3Tyr) | |
| 20 | g.6778374A= | CA2348112088 | BMP2 | c.476A= (p.Asp159=) c.8A= (p.Asp3=) | |
| 20 | g.6778374A>C | CA9758688 | BMP2 | c.476A>C (p.Asp159Ala) c.8A>C (p.Asp3Ala) | dbSNP ExAC gnomAD v2 |
| 20 | g.6778374A>G | CA408258416 | BMP2 | c.476A>G (p.Asp159Gly) c.8A>G (p.Asp3Gly) | |
| 20 | g.6778374A>T | CA408258417 | BMP2 | c.476A>T (p.Asp159Val) c.8A>T (p.Asp3Val) | |
| 20 | g.6778375T>A | CA408258418 | BMP2 | c.477T>A (p.Asp159Glu) c.9T>A (p.Asp3Glu) | |
| 20 | g.6778375T>C | CA9758689 | BMP2 | c.477T>C (p.Asp159=) c.9T>C (p.Asp3=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778375T>G | CA408258419 | BMP2 | c.477T>G (p.Asp159Glu) c.9T>G (p.Asp3Glu) | |
| 20 | g.6778375T= | CA2348112089 | BMP2 | c.477T= (p.Asp159=) c.9T= (p.Asp3=) | |
| 20 | g.6778376G>A | CA408258422 | BMP2 | c.478G>A (p.Ala160Thr) c.10G>A (p.Ala4Thr) | |
| 20 | g.6778376G>C | CA408258420 | BMP2 | c.478G>C (p.Ala160Pro) c.10G>C (p.Ala4Pro) | |
| 20 | g.6778376G>T | CA408258421 | BMP2 | c.478G>T (p.Ala160Ser) c.10G>T (p.Ala4Ser) | |
| 20 | g.6778377C>A | CA408258423 | BMP2 | c.479C>A (p.Ala160Asp) c.11C>A (p.Ala4Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.6778377C= | CA2348112090 | BMP2 | c.479C= (p.Ala160=) c.11C= (p.Ala4=) | |
| 20 | g.6778377C>G | CA408258424 | BMP2 | c.479C>G (p.Ala160Gly) c.11C>G (p.Ala4Gly) | |
| 20 | g.6778377C>T | CA408258425 | BMP2 | c.479C>T (p.Ala160Val) c.11C>T (p.Ala4Val) | dbSNP gnomAD v2 |
| 20 | g.6778378T>A | CA509684432 | BMP2 | c.480T>A (p.Ala160=) c.12T>A (p.Ala4=) | |
| 20 | g.6778378T>C | CA509684433 | BMP2 | c.480T>C (p.Ala160=) c.12T>C (p.Ala4=) | |
| 20 | g.6778378T>G | CA509684434 | BMP2 | c.480T>G (p.Ala160=) c.12T>G (p.Ala4=) | |
| 20 | g.6778379T>A | CA408258426 | BMP2 | c.481T>A (p.Leu161Ile) c.13T>A (p.Leu5Ile) | |
| 20 | g.6778379T>C | CA509684435 | BMP2 | c.481T>C (p.Leu161=) c.13T>C (p.Leu5=) | dbSNP |
| 20 | g.6778379T>G | CA408258427 | BMP2 | c.481T>G (p.Leu161Val) c.13T>G (p.Leu5Val) | |
| 20 | g.6778379T= | CA2348112091 | BMP2 | c.481T= (p.Leu161=) c.13T= (p.Leu5=) | |
| 20 | g.6778380T>A | CA408258428 | BMP2 | c.482T>A (p.Leu161Ter) c.14T>A (p.Leu5Ter) | |
| 20 | g.6778380T>C | CA9758690 | BMP2 | c.482T>C (p.Leu161Ser) c.14T>C (p.Leu5Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778380T>G | CA408258429 | BMP2 | c.482T>G (p.Leu161Ter) c.14T>G (p.Leu5Ter) | |
| 20 | g.6778380T= | CA2348112092 | BMP2 | c.482T= (p.Leu161=) c.14T= (p.Leu5=) | |
| 20 | g.6778381A>C | CA408258430 | BMP2 | c.483A>C (p.Leu161Phe) c.15A>C (p.Leu5Phe) | |
| 20 | g.6778381A>G | CA509684436 | BMP2 | c.483A>G (p.Leu161=) c.15A>G (p.Leu5=) | |
| 20 | g.6778381A>T | CA408258431 | BMP2 | c.483A>T (p.Leu161Phe) c.15A>T (p.Leu5Phe) | |
| 20 | g.6778382G>A | CA408258432 | BMP2 | c.484G>A (p.Gly162Arg) c.16G>A (p.Gly6Arg) | |
| 20 | g.6778382G>C | CA408258433 | BMP2 | c.484G>C (p.Gly162Arg) c.16G>C (p.Gly6Arg) |