Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
20 | g.6778386A>T | CA408258442 | BMP2 | c.488A>T (p.Asn163Ile) c.20A>T (p.Asn7Ile) | |
20 | g.6778387C>A | CA408258444 | BMP2 | c.489C>A (p.Asn163Lys) c.21C>A (p.Asn7Lys) | |
20 | g.6778387C= | CA2348112094 | BMP2 | c.489C= (p.Asn163=) c.21C= (p.Asn7=) | |
20 | g.6778387C>G | CA408258445 | BMP2 | c.489C>G (p.Asn163Lys) c.21C>G (p.Asn7Lys) | dbSNP |
20 | g.6778387C>T | CA509684440 | BMP2 | c.489C>T (p.Asn163=) c.21C>T (p.Asn7=) | gnomAD v4 |
20 | g.6778388A= | CA2348112095 | BMP2 | c.490A= (p.Asn164=) c.22A= (p.Asn8=) | |
20 | g.6778388A>C | CA408258446 | BMP2 | c.490A>C (p.Asn164His) c.22A>C (p.Asn8His) | |
20 | g.6778388A>G | CA311471918 | BMP2 | c.490A>G (p.Asn164Asp) c.22A>G (p.Asn8Asp) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.6778388A>T | CA408258447 | BMP2 | c.490A>T (p.Asn164Tyr) c.22A>T (p.Asn8Tyr) | |
20 | g.6778389A= | CA2348112096 | BMP2 | c.491A= (p.Asn164=) c.23A= (p.Asn8=) | |
20 | g.6778389A>C | CA408258449 | BMP2 | c.491A>C (p.Asn164Thr) c.23A>C (p.Asn8Thr) | |
20 | g.6778389A>G | CA9758691 | BMP2 | c.491A>G (p.Asn164Ser) c.23A>G (p.Asn8Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778389A>T | CA408258448 | BMP2 | c.491A>T (p.Asn164Ile) c.23A>T (p.Asn8Ile) | |
20 | g.6778390T>A | CA408258450 | BMP2 | c.492T>A (p.Asn164Lys) c.24T>A (p.Asn8Lys) | |
20 | g.6778390T>C | CA9758692 | BMP2 | c.492T>C (p.Asn164=) c.24T>C (p.Asn8=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778390T>G | CA408258451 | BMP2 | c.492T>G (p.Asn164Lys) c.24T>G (p.Asn8Lys) | |
20 | g.6778390T= | CA2348112097 | BMP2 | c.492T= (p.Asn164=) c.24T= (p.Asn8=) | |
20 | g.6778391A= | CA2348112098 | BMP2 | c.493A= (p.Ser165=) c.25A= (p.Ser9=) | |
20 | g.6778391A>C | CA408258452 | BMP2 | c.493A>C (p.Ser165Arg) c.25A>C (p.Ser9Arg) | |
20 | g.6778391A>G | CA408258453 | BMP2 | c.493A>G (p.Ser165Gly) c.25A>G (p.Ser9Gly) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.6778391A>T | CA408258454 | BMP2 | c.493A>T (p.Ser165Cys) c.25A>T (p.Ser9Cys) |