Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | ClinVar 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) | |
20 | g.6778382G>T | CA408258434 | BMP2 | c.484G>T (p.Gly162Ter) c.16G>T (p.Gly6Ter) | |
20 | g.6778383G>A | CA408258435 | BMP2 | c.485G>A (p.Gly162Glu) c.17G>A (p.Gly6Glu) | |
20 | g.6778383G>C | CA408258436 | BMP2 | c.485G>C (p.Gly162Ala) c.17G>C (p.Gly6Ala) | |
20 | g.6778383G>T | CA408258437 | BMP2 | c.485G>T (p.Gly162Val) c.17G>T (p.Gly6Val) | |
20 | g.6778384A>C | CA509684437 | BMP2 | c.486A>C (p.Gly162=) c.18A>C (p.Gly6=) | |
20 | g.6778384A>G | CA509684438 | BMP2 | c.486A>G (p.Gly162=) c.18A>G (p.Gly6=) | |
20 | g.6778384A>T | CA509684439 | BMP2 | c.486A>T (p.Gly162=) c.18A>T (p.Gly6=) | |
20 | g.6778385A= | CA2348112093 | BMP2 | c.487A= (p.Asn163=) c.19A= (p.Asn7=) | |
20 | g.6778385A>C | CA408258438 | BMP2 | c.487A>C (p.Asn163His) c.19A>C (p.Asn7His) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.6778385A>G | CA408258439 | BMP2 | c.487A>G (p.Asn163Asp) c.19A>G (p.Asn7Asp) | |
20 | g.6778385A>T | CA408258440 | BMP2 | c.487A>T (p.Asn163Tyr) c.19A>T (p.Asn7Tyr) | |
20 | g.6778386A>C | CA408258441 | BMP2 | c.488A>C (p.Asn163Thr) c.20A>C (p.Asn7Thr) | |
20 | g.6778386A>G | CA408258443 | BMP2 | c.488A>G (p.Asn163Ser) c.20A>G (p.Asn7Ser) | gnomAD v4 |