UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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=) | 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 |
| 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) | |
| 20 | g.6778392G>A | CA408258457 | BMP2 | c.494G>A (p.Ser165Asn) c.26G>A (p.Ser9Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.6778392G>C | CA408258455 | BMP2 | c.494G>C (p.Ser165Thr) c.26G>C (p.Ser9Thr) | gnomAD v4 |
| 20 | g.6778392G= | CA2348112099 | BMP2 | c.494G= (p.Ser165=) c.26G= (p.Ser9=) | |
| 20 | g.6778392G>T | CA408258456 | BMP2 | c.494G>T (p.Ser165Ile) c.26G>T (p.Ser9Ile) | |
| 20 | g.6778393C>A | CA408258458 | BMP2 | c.495C>A (p.Ser165Arg) c.27C>A (p.Ser9Arg) | |
| 20 | g.6778393C>G | CA408258459 | BMP2 | c.495C>G (p.Ser165Arg) c.27C>G (p.Ser9Arg) | |
| 20 | g.6778393C>T | CA509684441 | BMP2 | c.495C>T (p.Ser165=) c.27C>T (p.Ser9=) | |
| 20 | g.6778394A= | CA2348112100 | BMP2 | c.496A= (p.Ser166=) c.28A= (p.Ser10=) | |
| 20 | g.6778394A>C | CA408258460 | BMP2 | c.496A>C (p.Ser166Arg) c.28A>C (p.Ser10Arg) | |
| 20 | g.6778394A>G | CA408258461 | BMP2 | c.496A>G (p.Ser166Gly) c.28A>G (p.Ser10Gly) | dbSNP gnomAD v4 |
| 20 | g.6778394A>T | CA408258462 | BMP2 | c.496A>T (p.Ser166Cys) c.28A>T (p.Ser10Cys) | |
| 20 | g.6778395G>A | CA408258463 | BMP2 | c.497G>A (p.Ser166Asn) c.29G>A (p.Ser10Asn) | COSMIC |
| 20 | g.6778395G>C | CA408258464 | BMP2 | c.497G>C (p.Ser166Thr) c.29G>C (p.Ser10Thr) | |
| 20 | g.6778395G>T | CA408258465 | BMP2 | c.497G>T (p.Ser166Ile) c.29G>T (p.Ser10Ile) | |
| 20 | g.6778396T>A | CA408258466 | BMP2 | c.498T>A (p.Ser166Arg) c.30T>A (p.Ser10Arg) | |
| 20 | g.6778396T>C | CA509684443 | BMP2 | c.498T>C (p.Ser166=) c.30T>C (p.Ser10=) | |
| 20 | g.6778396T>G | CA408258467 | BMP2 | c.498T>G (p.Ser166Arg) c.30T>G (p.Ser10Arg) | |
| 20 | g.6778397T>A | CA408258468 | BMP2 | c.499T>A (p.Phe167Ile) c.31T>A (p.Phe11Ile) | |
| 20 | g.6778397T>C | CA408258469 | BMP2 | c.499T>C (p.Phe167Leu) c.31T>C (p.Phe11Leu) | |
| 20 | g.6778397T>G | CA408258470 | BMP2 | c.499T>G (p.Phe167Val) c.31T>G (p.Phe11Val) | |
| 20 | g.6778398T>A | CA408258471 | BMP2 | c.500T>A (p.Phe167Tyr) c.32T>A (p.Phe11Tyr) | |
| 20 | g.6778398T>C | CA408258473 | BMP2 | c.500T>C (p.Phe167Ser) c.32T>C (p.Phe11Ser) | |
| 20 | g.6778398T>G | CA408258472 | BMP2 | c.500T>G (p.Phe167Cys) c.32T>G (p.Phe11Cys) | |
| 20 | g.6778399C>A | CA408258474 | BMP2 | c.501C>A (p.Phe167Leu) c.33C>A (p.Phe11Leu) | |
| 20 | g.6778399C>G | CA408258475 | BMP2 | c.501C>G (p.Phe167Leu) c.33C>G (p.Phe11Leu) | COSMIC |
| 20 | g.6778399C>T | CA509684444 | BMP2 | c.501C>T (p.Phe167=) c.33C>T (p.Phe11=) | gnomAD v4 |
| 20 | g.6778400C>A | CA9758693 | BMP2 | c.502C>A (p.His168Asn) c.34C>A (p.His12Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778400C= | CA2348112101 | BMP2 | c.502C= (p.His168=) c.34C= (p.His12=) | |
| 20 | g.6778400C>G | CA408258476 | BMP2 | c.502C>G (p.His168Asp) c.34C>G (p.His12Asp) | |
| 20 | g.6778400C>T | CA408258477 | BMP2 | c.502C>T (p.His168Tyr) c.34C>T (p.His12Tyr) | |
| 20 | g.6778401A= | CA2348112102 | BMP2 | c.503A= (p.His168=) c.35A= (p.His12=) | |
| 20 | g.6778401A>C | CA408258482 | BMP2 | c.503A>C (p.His168Pro) c.35A>C (p.His12Pro) | |
| 20 | g.6778401A>G | CA408258483 | BMP2 | c.503A>G (p.His168Arg) c.35A>G (p.His12Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.6778401A>T | CA408258484 | BMP2 | c.503A>T (p.His168Leu) c.35A>T (p.His12Leu) | |
| 20 | g.6778402T>A | CA408258485 | BMP2 | c.504T>A (p.His168Gln) c.36T>A (p.His12Gln) | |
| 20 | g.6778402T>C | CA509817650 | BMP2 | c.504T>C (p.His168=) c.36T>C (p.His12=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.6778402T>G | CA408258486 | BMP2 | c.504T>G (p.His168Gln) c.36T>G (p.His12Gln) | |
| 20 | g.6778402T= | CA2348112103 | BMP2 | c.504T= (p.His168=) c.36T= (p.His12=) | |
| 20 | g.6778403C>A | CA408258487 | BMP2 | c.505C>A (p.His169Asn) c.37C>A (p.His13Asn) | |
| 20 | g.6778403C>G | CA408258488 | BMP2 | c.505C>G (p.His169Asp) c.37C>G (p.His13Asp) | |
| 20 | g.6778403C>T | CA408258489 | BMP2 | c.505C>T (p.His169Tyr) c.37C>T (p.His13Tyr) | gnomAD v4 |
| 20 | g.6778404A>C | CA408258490 | BMP2 | c.506A>C (p.His169Pro) c.38A>C (p.His13Pro) | |
| 20 | g.6778404A>G | CA408258492 | BMP2 | c.506A>G (p.His169Arg) c.38A>G (p.His13Arg) | |
| 20 | g.6778404A>T | CA408258491 | BMP2 | c.506A>T (p.His169Leu) c.38A>T (p.His13Leu) | |
| 20 | g.6778405C>A | CA408258493 | BMP2 | c.507C>A (p.His169Gln) c.39C>A (p.His13Gln) | dbSNP |
| 20 | g.6778405C= | CA2348112104 | BMP2 | c.507C= (p.His169=) c.39C= (p.His13=) | |
| 20 | g.6778405C>G | CA408258494 | BMP2 | c.507C>G (p.His169Gln) c.39C>G (p.His13Gln) | |
| 20 | g.6778405C>T | CA509817656 | BMP2 | c.507C>T (p.His169=) c.39C>T (p.His13=) | |
| 20 | g.6778406C>A | CA509817658 | BMP2 | c.508C>A (p.Arg170=) c.40C>A (p.Arg14=) | |
| 20 | g.6778406C= | CA2348112105 | BMP2 | c.508C= (p.Arg170=) c.40C= (p.Arg14=) | |
| 20 | g.6778406C>G | CA408258495 | BMP2 | c.508C>G (p.Arg170Gly) c.40C>G (p.Arg14Gly) | |
| 20 | g.6778406C>T | CA408258496 | BMP2 | c.508C>T (p.Arg170Ter) c.40C>T (p.Arg14Ter) | ClinVar dbSNP |
| 20 | g.6778407G>A | CA9758694 | BMP2 | c.509G>A (p.Arg170Gln) c.41G>A (p.Arg14Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.6778407G>C | CA408258497 | BMP2 | c.509G>C (p.Arg170Pro) c.41G>C (p.Arg14Pro) | |
| 20 | g.6778407G= | CA2348112106 | BMP2 | c.509G= (p.Arg170=) c.41G= (p.Arg14=) | |
| 20 | g.6778407G>T | CA408258498 | BMP2 | c.509G>T (p.Arg170Leu) c.41G>T (p.Arg14Leu) | |
| 20 | g.6778408A>C | CA509817659 | BMP2 | c.510A>C (p.Arg170=) c.42A>C (p.Arg14=) | |
| 20 | g.6778408A>G | CA509817661 | BMP2 | c.510A>G (p.Arg170=) c.42A>G (p.Arg14=) | gnomAD v4 |
| 20 | g.6778408A>T | CA509817662 | BMP2 | c.510A>T (p.Arg170=) c.42A>T (p.Arg14=) | |
| 20 | g.6778409A>C | CA408258499 | BMP2 | c.511A>C (p.Ile171Leu) c.43A>C (p.Ile15Leu) | gnomAD v4 |
| 20 | g.6778409A>G | CA408258500 | BMP2 | c.511A>G (p.Ile171Val) c.43A>G (p.Ile15Val) | |
| 20 | g.6778409A>T | CA408258501 | BMP2 | c.511A>T (p.Ile171Phe) c.43A>T (p.Ile15Phe) | |
| 20 | g.6778410T>A | CA408258502 | BMP2 | c.512T>A (p.Ile171Asn) c.44T>A (p.Ile15Asn) | |
| 20 | g.6778410T>C | CA408258504 | BMP2 | c.512T>C (p.Ile171Thr) c.44T>C (p.Ile15Thr) | COSMIC |
| 20 | g.6778410T>G | CA408258503 | BMP2 | c.512T>G (p.Ile171Ser) c.44T>G (p.Ile15Ser) | |
| 20 | g.6778411T>A | CA509817664 | BMP2 | c.513T>A (p.Ile171=) c.45T>A (p.Ile15=) | |
| 20 | g.6778411T>C | CA509817665 | BMP2 | c.513T>C (p.Ile171=) c.45T>C (p.Ile15=) | |
| 20 | g.6778411T>G | CA408258505 | BMP2 | c.513T>G (p.Ile171Met) c.45T>G (p.Ile15Met) | |
| 20 | g.6778412A>C | CA408258507 | BMP2 | c.514A>C (p.Asn172His) c.46A>C (p.Asn16His) | |
| 20 | g.6778412A>G | CA408258506 | BMP2 | c.514A>G (p.Asn172Asp) c.46A>G (p.Asn16Asp) | |
| 20 | g.6778412A>T | CA408258508 | BMP2 | c.514A>T (p.Asn172Tyr) c.46A>T (p.Asn16Tyr) | |
| 20 | g.6778413A= | CA2348112107 | BMP2 | c.515A= (p.Asn172=) c.47A= (p.Asn16=) | |
| 20 | g.6778413A>C | CA408258509 | BMP2 | c.515A>C (p.Asn172Thr) c.47A>C (p.Asn16Thr) | gnomAD v4 |
| 20 | g.6778413A>G | CA408258510 | BMP2 | c.515A>G (p.Asn172Ser) c.47A>G (p.Asn16Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.6778413A>T | CA408258511 | BMP2 | c.515A>T (p.Asn172Ile) c.47A>T (p.Asn16Ile) | |
| 20 | g.6778414T>A | CA408258512 | BMP2 | c.516T>A (p.Asn172Lys) c.48T>A (p.Asn16Lys) | |
| 20 | g.6778414T>C | CA509817670 | BMP2 | c.516T>C (p.Asn172=) c.48T>C (p.Asn16=) | |
| 20 | g.6778414T>G | CA408258513 | BMP2 | c.516T>G (p.Asn172Lys) c.48T>G (p.Asn16Lys) | |
| 20 | g.6778415A= | CA2348112108 | BMP2 | c.517A= (p.Ile173=) c.49A= (p.Ile17=) | |
| 20 | g.6778415A>C | CA408258514 | BMP2 | c.517A>C (p.Ile173Leu) c.49A>C (p.Ile17Leu) | |
| 20 | g.6778415A>G | CA408258515 | BMP2 | c.517A>G (p.Ile173Val) c.49A>G (p.Ile17Val) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.6778415A>T | CA408258516 | BMP2 | c.517A>T (p.Ile173Phe) c.49A>T (p.Ile17Phe) | |
| 20 | g.6778416T>A | CA408258517 | BMP2 | c.518T>A (p.Ile173Asn) c.50T>A (p.Ile17Asn) | |
| 20 | g.6778416T>C | CA408258518 | BMP2 | c.518T>C (p.Ile173Thr) c.50T>C (p.Ile17Thr) | |
| 20 | g.6778416T>G | CA408258519 | BMP2 | c.518T>G (p.Ile173Ser) c.50T>G (p.Ile17Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.6778416T= | CA2348112109 | BMP2 | c.518T= (p.Ile173=) c.50T= (p.Ile17=) | |
| 20 | g.6778417T>A | CA509817678 | BMP2 | c.519T>A (p.Ile173=) c.51T>A (p.Ile17=) | |
| 20 | g.6778417T>C | CA509817677 | BMP2 | c.519T>C (p.Ile173=) c.51T>C (p.Ile17=) | |
| 20 | g.6778417T>G | CA408258520 | BMP2 | c.519T>G (p.Ile173Met) c.51T>G (p.Ile17Met) | |
| 20 | g.6778418T>A | CA408258523 | BMP2 | c.520T>A (p.Tyr174Asn) c.52T>A (p.Tyr18Asn) | |
| 20 | g.6778418T>C | CA408258521 | BMP2 | c.520T>C (p.Tyr174His) c.52T>C (p.Tyr18His) | |
| 20 | g.6778418T>G | CA408258522 | BMP2 | c.520T>G (p.Tyr174Asp) c.52T>G (p.Tyr18Asp) | |
| 20 | g.6778419A>C | CA408258524 | BMP2 | c.521A>C (p.Tyr174Ser) c.53A>C (p.Tyr18Ser) | |
| 20 | g.6778419A>G | CA408258525 | BMP2 | c.521A>G (p.Tyr174Cys) c.53A>G (p.Tyr18Cys) | |
| 20 | g.6778419A>T | CA408258526 | BMP2 | c.521A>T (p.Tyr174Phe) c.53A>T (p.Tyr18Phe) | |
| 20 | g.6778420T>A | CA408258527 | BMP2 | c.522T>A (p.Tyr174Ter) c.54T>A (p.Tyr18Ter) | |
| 20 | g.6778420T>C | CA509817683 | BMP2 | c.522T>C (p.Tyr174=) c.54T>C (p.Tyr18=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.6778420T>G | CA408258528 | BMP2 | c.522T>G (p.Tyr174Ter) c.54T>G (p.Tyr18Ter) | |
| 20 | g.6778420T= | CA2348112110 | BMP2 | c.522T= (p.Tyr174=) c.54T= (p.Tyr18=) | |
| 20 | g.6778421G>A | CA408258529 | BMP2 | c.523G>A (p.Glu175Lys) c.55G>A (p.Glu19Lys) | |
| 20 | g.6778421G>C | CA408258530 | BMP2 | c.523G>C (p.Glu175Gln) c.55G>C (p.Glu19Gln) | |
| 20 | g.6778421G>T | CA408258531 | BMP2 | c.523G>T (p.Glu175Ter) c.55G>T (p.Glu19Ter) | |
| 20 | g.6778422A>C | CA408258532 | BMP2 | c.524A>C (p.Glu175Ala) c.56A>C (p.Glu19Ala) | |
| 20 | g.6778422A>G | CA408258533 | BMP2 | c.524A>G (p.Glu175Gly) c.56A>G (p.Glu19Gly) | |
| 20 | g.6778422A>T | CA408258534 | BMP2 | c.524A>T (p.Glu175Val) c.56A>T (p.Glu19Val) | |
| 20 | g.6778423A>C | CA408258536 | BMP2 | c.525A>C (p.Glu175Asp) c.57A>C (p.Glu19Asp) | |
| 20 | g.6778423A>G | CA509817687 | BMP2 | c.525A>G (p.Glu175=) c.57A>G (p.Glu19=) | |
| 20 | g.6778423A>T | CA408258535 | BMP2 | c.525A>T (p.Glu175Asp) c.57A>T (p.Glu19Asp) | |
| 20 | g.6778424A>C | CA408258537 | BMP2 | c.526A>C (p.Ile176Leu) c.58A>C (p.Ile20Leu) | |
| 20 | g.6778424A>G | CA408258538 | BMP2 | c.526A>G (p.Ile176Val) c.58A>G (p.Ile20Val) | |
| 20 | g.6778424A>T | CA408258539 | BMP2 | c.526A>T (p.Ile176Phe) c.58A>T (p.Ile20Phe) | gnomAD v4 |
| 20 | g.6778425T>A | CA408258540 | BMP2 | c.527T>A (p.Ile176Asn) c.59T>A (p.Ile20Asn) | |
| 20 | g.6778425T>C | CA408258541 | BMP2 | c.527T>C (p.Ile176Thr) c.59T>C (p.Ile20Thr) | |
| 20 | g.6778425T>G | CA408258542 | BMP2 | c.527T>G (p.Ile176Ser) c.59T>G (p.Ile20Ser) | |
| 20 | g.6778426C>A | CA509817691 | BMP2 | c.528C>A (p.Ile176=) c.60C>A (p.Ile20=) | |
| 20 | g.6778426C= | CA2348112111 | BMP2 | c.528C= (p.Ile176=) c.60C= (p.Ile20=) | |
| 20 | g.6778426C>G | CA408258543 | BMP2 | c.528C>G (p.Ile176Met) c.60C>G (p.Ile20Met) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.6778426C>T | CA509817693 | BMP2 | c.528C>T (p.Ile176=) c.60C>T (p.Ile20=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.6778427A= | CA2348112112 | BMP2 | c.529A= (p.Ile177=) c.61A= (p.Ile21=) | |
| 20 | g.6778427A>C | CA9758695 | BMP2 | c.529A>C (p.Ile177Leu) c.61A>C (p.Ile21Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778427A>G | CA408258545 | BMP2 | c.529A>G (p.Ile177Val) c.61A>G (p.Ile21Val) | gnomAD v4 |
| 20 | g.6778427A>T | CA408258544 | BMP2 | c.529A>T (p.Ile177Leu) c.61A>T (p.Ile21Leu) | |
| 20 | g.6778428T>A | CA408258546 | BMP2 | c.530T>A (p.Ile177Lys) c.62T>A (p.Ile21Lys) | |
| 20 | g.6778428T>C | CA408258547 | BMP2 | c.530T>C (p.Ile177Thr) c.62T>C (p.Ile21Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.6778428T>G | CA408258548 | BMP2 | c.530T>G (p.Ile177Arg) c.62T>G (p.Ile21Arg) | |
| 20 | g.6778428T= | CA2348112113 | BMP2 | c.530T= (p.Ile177=) c.62T= (p.Ile21=) | |
| 20 | g.6778429A>C | CA509817695 | BMP2 | c.531A>C (p.Ile177=) c.63A>C (p.Ile21=) | |
| 20 | g.6778429A>G | CA408258549 | BMP2 | c.531A>G (p.Ile177Met) c.63A>G (p.Ile21Met) | |
| 20 | g.6778429A>T | CA509817696 | BMP2 | c.531A>T (p.Ile177=) c.63A>T (p.Ile21=) | |
| 20 | g.6778430A>C | CA408258550 | BMP2 | c.532A>C (p.Lys178Gln) c.64A>C (p.Lys22Gln) | |
| 20 | g.6778430A>G | CA408258552 | BMP2 | c.532A>G (p.Lys178Glu) c.64A>G (p.Lys22Glu) | |
| 20 | g.6778430A>T | CA408258551 | BMP2 | c.532A>T (p.Lys178Ter) c.64A>T (p.Lys22Ter) | |
| 20 | g.6778431A>C | CA408258553 | BMP2 | c.533A>C (p.Lys178Thr) c.65A>C (p.Lys22Thr) | |
| 20 | g.6778431A>G | CA408258554 | BMP2 | c.533A>G (p.Lys178Arg) c.65A>G (p.Lys22Arg) | |
| 20 | g.6778431A>T | CA408258555 | BMP2 | c.533A>T (p.Lys178Ile) c.65A>T (p.Lys22Ile) | |
| 20 | g.6778432A= | CA2348112114 | BMP2 | c.534A= (p.Lys178=) c.66A= (p.Lys22=) | |
| 20 | g.6778432A>C | CA408258556 | BMP2 | c.534A>C (p.Lys178Asn) c.66A>C (p.Lys22Asn) | dbSNP |
| 20 | g.6778432A>G | CA509817700 | BMP2 | c.534A>G (p.Lys178=) c.66A>G (p.Lys22=) | |
| 20 | g.6778432A>T | CA408258557 | BMP2 | c.534A>T (p.Lys178Asn) c.66A>T (p.Lys22Asn) | |
| 20 | g.6778433C>A | CA408258558 | BMP2 | c.535C>A (p.Pro179Thr) c.67C>A (p.Pro23Thr) | |
| 20 | g.6778433C>G | CA408258559 | BMP2 | c.535C>G (p.Pro179Ala) c.67C>G (p.Pro23Ala) | |
| 20 | g.6778433C>T | CA408258560 | BMP2 | c.535C>T (p.Pro179Ser) c.67C>T (p.Pro23Ser) | gnomAD v4 |
| 20 | g.6778433_6778436delinsCCTG | CA2348112115 | BMP2 | c.535_538delinsCCTG (p.Pro179=) c.67_70delinsCCTG (p.Pro23=) | |
| 20 | g.6778434C>A | CA408258561 | BMP2 | c.536C>A (p.Pro179His) c.68C>A (p.Pro23His) | |
| 20 | g.6778434C= | CA2348112116 | BMP2 | c.536C= (p.Pro179=) c.68C= (p.Pro23=) | |
| 20 | g.6778434C>G | CA408258562 | BMP2 | c.536C>G (p.Pro179Arg) c.68C>G (p.Pro23Arg) | |
| 20 | g.6778434C>T | CA9758696 | BMP2 | c.536C>T (p.Pro179Leu) c.68C>T (p.Pro23Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778435_6778437del | CA634802377 | BMP2 | c.537_539del (p.Ala180del) c.69_71del (p.Ala24del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778435T>A | CA509817704 | BMP2 | c.537T>A (p.Pro179=) c.69T>A (p.Pro23=) | |
| 20 | g.6778435T>C | CA509817706 | BMP2 | c.537T>C (p.Pro179=) c.69T>C (p.Pro23=) | |
| 20 | g.6778435T>G | CA509817707 | BMP2 | c.537T>G (p.Pro179=) c.69T>G (p.Pro23=) | |
| 20 | g.6778436G>A | CA408258565 | BMP2 | c.538G>A (p.Ala180Thr) c.70G>A (p.Ala24Thr) | |
| 20 | g.6778436G>C | CA408258564 | BMP2 | c.538G>C (p.Ala180Pro) c.70G>C (p.Ala24Pro) | |
| 20 | g.6778436G>T | CA408258563 | BMP2 | c.538G>T (p.Ala180Ser) c.70G>T (p.Ala24Ser) | |
| 20 | g.6778437C>A | CA408258566 | BMP2 | c.539C>A (p.Ala180Glu) c.71C>A (p.Ala24Glu) | dbSNP |
| 20 | g.6778437C= | CA2348112117 | BMP2 | c.539C= (p.Ala180=) c.71C= (p.Ala24=) | |
| 20 | g.6778437C>G | CA408258567 | BMP2 | c.539C>G (p.Ala180Gly) c.71C>G (p.Ala24Gly) | |
| 20 | g.6778437C>T | CA9758697 | BMP2 | c.539C>T (p.Ala180Val) c.71C>T (p.Ala24Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.6778438A= | CA2348112118 | BMP2 | c.540A= (p.Ala180=) c.72A= (p.Ala24=) | |
| 20 | g.6778438A>C | CA509817711 | BMP2 | c.540A>C (p.Ala180=) c.72A>C (p.Ala24=) | |
| 20 | g.6778438A>G | CA311471919 | BMP2 | c.540A>G (p.Ala180=) c.72A>G (p.Ala24=) | dbSNP |
| 20 | g.6778438A>T | CA509817713 | BMP2 | c.540A>T (p.Ala180=) c.72A>T (p.Ala24=) | |
| 20 | g.6778439A>C | CA408258568 | BMP2 | c.541A>C (p.Thr181Pro) c.73A>C (p.Thr25Pro) | |
| 20 | g.6778439A>G | CA408258569 | BMP2 | c.541A>G (p.Thr181Ala) c.73A>G (p.Thr25Ala) | |
| 20 | g.6778439A>T | CA408258570 | BMP2 | c.541A>T (p.Thr181Ser) c.73A>T (p.Thr25Ser) | |
| 20 | g.6778440C>A | CA408258571 | BMP2 | c.542C>A (p.Thr181Lys) c.74C>A (p.Thr25Lys) | |
| 20 | g.6778440C= | CA2348112119 | BMP2 | c.542C= (p.Thr181=) c.74C= (p.Thr25=) | |
| 20 | g.6778440C>G | CA408258572 | BMP2 | c.542C>G (p.Thr181Arg) c.74C>G (p.Thr25Arg) | |
| 20 | g.6778440C>T | CA9758698 | BMP2 | c.542C>T (p.Thr181Ile) c.74C>T (p.Thr25Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.6778441A>C | CA509817718 | BMP2 | c.543A>C (p.Thr181=) c.75A>C (p.Thr25=) | |
| 20 | g.6778441A>G | CA509817719 | BMP2 | c.543A>G (p.Thr181=) c.75A>G (p.Thr25=) | |
| 20 | g.6778441A>T | CA509817720 | BMP2 | c.543A>T (p.Thr181=) c.75A>T (p.Thr25=) | |
| 20 | g.6778442G>A | CA408258573 | BMP2 | c.544G>A (p.Ala182Thr) c.76G>A (p.Ala26Thr) | |
| 20 | g.6778442G>C | CA408258574 | BMP2 | c.544G>C (p.Ala182Pro) c.76G>C (p.Ala26Pro) | dbSNP |
| 20 | g.6778442G= | CA2348112120 | BMP2 | c.544G= (p.Ala182=) c.76G= (p.Ala26=) | |
| 20 | g.6778442G>T | CA408258575 | BMP2 | c.544G>T (p.Ala182Ser) c.76G>T (p.Ala26Ser) | |
| 20 | g.6778443C>A | CA408258576 | BMP2 | c.545C>A (p.Ala182Asp) c.77C>A (p.Ala26Asp) | |
| 20 | g.6778443C>G | CA408258577 | BMP2 | c.545C>G (p.Ala182Gly) c.77C>G (p.Ala26Gly) | gnomAD v4 |
| 20 | g.6778443C>T | CA408258578 | BMP2 | c.545C>T (p.Ala182Val) c.77C>T (p.Ala26Val) | |
| 20 | g.6778444C>A | CA509817722 | BMP2 | c.546C>A (p.Ala182=) c.78C>A (p.Ala26=) | |
| 20 | g.6778444C= | CA2348112121 | BMP2 | c.546C= (p.Ala182=) c.78C= (p.Ala26=) | |
| 20 | g.6778444C>G | CA9758699 | BMP2 | c.546C>G (p.Ala182=) c.78C>G (p.Ala26=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778444C>T | CA509817724 | BMP2 | c.546C>T (p.Ala182=) c.78C>T (p.Ala26=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778445A>C | CA408258579 | BMP2 | c.547A>C (p.Asn183His) c.79A>C (p.Asn27His) | |
| 20 | g.6778445A>G | CA408258581 | BMP2 | c.547A>G (p.Asn183Asp) c.79A>G (p.Asn27Asp) | |
| 20 | g.6778445A>T | CA408258580 | BMP2 | c.547A>T (p.Asn183Tyr) c.79A>T (p.Asn27Tyr) | |
| 20 | g.6778446A>C | CA408258582 | BMP2 | c.548A>C (p.Asn183Thr) c.80A>C (p.Asn27Thr) | |
| 20 | g.6778446A>G | CA408258583 | BMP2 | c.548A>G (p.Asn183Ser) c.80A>G (p.Asn27Ser) | |
| 20 | g.6778446A>T | CA408258584 | BMP2 | c.548A>T (p.Asn183Ile) c.80A>T (p.Asn27Ile) | |
| 20 | g.6778447C>A | CA408258585 | BMP2 | c.549C>A (p.Asn183Lys) c.81C>A (p.Asn27Lys) | |
| 20 | g.6778447C>G | CA408258586 | BMP2 | c.549C>G (p.Asn183Lys) c.81C>G (p.Asn27Lys) | |
| 20 | g.6778447C>T | CA509817727 | BMP2 | c.549C>T (p.Asn183=) c.81C>T (p.Asn27=) | dbSNP |
| 20 | g.6778448T>A | CA408258587 | BMP2 | c.550T>A (p.Ser184Thr) c.82T>A (p.Ser28Thr) | |
| 20 | g.6778448T>C | CA408258588 | BMP2 | c.550T>C (p.Ser184Pro) c.82T>C (p.Ser28Pro) | |
| 20 | g.6778448T>G | CA408258589 | BMP2 | c.550T>G (p.Ser184Ala) c.82T>G (p.Ser28Ala) | |
| 20 | g.6778449C>A | CA408258590 | BMP2 | c.551C>A (p.Ser184Ter) c.83C>A (p.Ser28Ter) | |
| 20 | g.6778449C= | CA2348112122 | BMP2 | c.551C= (p.Ser184=) c.83C= (p.Ser28=) | |
| 20 | g.6778449C>G | CA9758701 | BMP2 | c.551C>G (p.Ser184Trp) c.83C>G (p.Ser28Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.6778449C>T | CA9758700 | BMP2 | c.551C>T (p.Ser184Leu) c.83C>T (p.Ser28Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778450G>A | CA202299 | BMP2 | c.552G>A (p.Ser184=) c.84G>A (p.Ser28=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778450G>C | CA509817730 | BMP2 | c.552G>C (p.Ser184=) c.84G>C (p.Ser28=) | |
| 20 | g.6778450G= | CA2348112123 | BMP2 | c.552G= (p.Ser184=) c.84G= (p.Ser28=) | |
| 20 | g.6778450G>T | CA509817731 | BMP2 | c.552G>T (p.Ser184=) c.84G>T (p.Ser28=) | |
| 20 | g.6778451A>C | CA408258593 | BMP2 | c.553A>C (p.Lys185Gln) c.85A>C (p.Lys29Gln) | |
| 20 | g.6778451A>G | CA408258591 | BMP2 | c.553A>G (p.Lys185Glu) c.85A>G (p.Lys29Glu) | |
| 20 | g.6778451A>T | CA408258592 | BMP2 | c.553A>T (p.Lys185Ter) c.85A>T (p.Lys29Ter) | |
| 20 | g.6778452A= | CA2348112124 | BMP2 | c.554A= (p.Lys185=) c.86A= (p.Lys29=) | |
| 20 | g.6778452A>C | CA408258594 | BMP2 | c.554A>C (p.Lys185Thr) c.86A>C (p.Lys29Thr) | |
| 20 | g.6778452A>G | CA9758702 | BMP2 | c.554A>G (p.Lys185Arg) c.86A>G (p.Lys29Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.6778452A>T | CA408258595 | BMP2 | c.554A>T (p.Lys185Ile) c.86A>T (p.Lys29Ile) | |
| 20 | g.6778453A>C | CA408258596 | BMP2 | c.555A>C (p.Lys185Asn) c.87A>C (p.Lys29Asn) | dbSNP |
| 20 | g.6778453A>G | CA509817738 | BMP2 | c.555A>G (p.Lys185=) c.87A>G (p.Lys29=) | |
| 20 | g.6778453A>T | CA408258597 | BMP2 | c.555A>T (p.Lys185Asn) c.87A>T (p.Lys29Asn) | |
| 20 | g.6778454T>A | CA408258598 | BMP2 | c.556T>A (p.Phe186Ile) c.88T>A (p.Phe30Ile) | |
| 20 | g.6778454T>C | CA9758703 | BMP2 | c.556T>C (p.Phe186Leu) c.88T>C (p.Phe30Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778454T>G | CA408258599 | BMP2 | c.556T>G (p.Phe186Val) c.88T>G (p.Phe30Val) | |
| 20 | g.6778454T= | CA2348112125 | BMP2 | c.556T= (p.Phe186=) c.88T= (p.Phe30=) | |
| 20 | g.6778454_6778455del | CA2815171971 | BMP2 | c.556_557del (p.Phe186ProfsTer22) c.88_89del (p.Phe30ProfsTer22) | |
| 20 | g.6778455T>A | CA408258600 | BMP2 | c.557T>A (p.Phe186Tyr) c.89T>A (p.Phe30Tyr) | |
| 20 | g.6778455T>C | CA408258601 | BMP2 | c.557T>C (p.Phe186Ser) c.89T>C (p.Phe30Ser) | |
| 20 | g.6778455T>G | CA408258602 | BMP2 | c.557T>G (p.Phe186Cys) c.89T>G (p.Phe30Cys) | |
| 20 | g.6778456C>A | CA408258604 | BMP2 | c.558C>A (p.Phe186Leu) c.90C>A (p.Phe30Leu) | gnomAD v4 |
| 20 | g.6778456C>G | CA408258603 | BMP2 | c.558C>G (p.Phe186Leu) c.90C>G (p.Phe30Leu) | |
| 20 | g.6778456C>T | CA509817747 | BMP2 | c.558C>T (p.Phe186=) c.90C>T (p.Phe30=) | gnomAD v4 COSMIC |
| 20 | g.6778457C>A | CA408258605 | BMP2 | c.559C>A (p.Pro187Thr) c.91C>A (p.Pro31Thr) | |
| 20 | g.6778457C>G | CA408258606 | BMP2 | c.559C>G (p.Pro187Ala) c.91C>G (p.Pro31Ala) | |
| 20 | g.6778457C>T | CA408258607 | BMP2 | c.559C>T (p.Pro187Ser) c.91C>T (p.Pro31Ser) | gnomAD v4 |
| 20 | g.6778458C>A | CA408258608 | BMP2 | c.560C>A (p.Pro187His) c.92C>A (p.Pro31His) | |
| 20 | g.6778458C>G | CA408258609 | BMP2 | c.560C>G (p.Pro187Arg) c.92C>G (p.Pro31Arg) | |
| 20 | g.6778458C>T | CA408258610 | BMP2 | c.560C>T (p.Pro187Leu) c.92C>T (p.Pro31Leu) | |
| 20 | g.6778459C>A | CA509817752 | BMP2 | c.561C>A (p.Pro187=) c.93C>A (p.Pro31=) | |
| 20 | g.6778459C= | CA2348112126 | BMP2 | c.561C= (p.Pro187=) c.93C= (p.Pro31=) | |
| 20 | g.6778459C>G | CA509817753 | BMP2 | c.561C>G (p.Pro187=) c.93C>G (p.Pro31=) | gnomAD v4 |
| 20 | g.6778459C>T | CA9758704 | BMP2 | c.561C>T (p.Pro187=) c.93C>T (p.Pro31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778460G>A | CA9758705 | BMP2 | c.562G>A (p.Val188Met) c.94G>A (p.Val32Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.6778460G>C | CA408258611 | BMP2 | c.562G>C (p.Val188Leu) c.94G>C (p.Val32Leu) | |
| 20 | g.6778460G= | CA2348112127 | BMP2 | c.562G= (p.Val188=) c.94G= (p.Val32=) | |
| 20 | g.6778460G>T | CA408258612 | BMP2 | c.562G>T (p.Val188Leu) c.94G>T (p.Val32Leu) | |
| 20 | g.6778461T>A | CA408258613 | BMP2 | c.563T>A (p.Val188Glu) c.95T>A (p.Val32Glu) | |
| 20 | g.6778461T>C | CA408258614 | BMP2 | c.563T>C (p.Val188Ala) c.95T>C (p.Val32Ala) | |
| 20 | g.6778461T>G | CA408258615 | BMP2 | c.563T>G (p.Val188Gly) c.95T>G (p.Val32Gly) | |
| 20 | g.6778462G>A | CA509817757 | BMP2 | c.564G>A (p.Val188=) c.96G>A (p.Val32=) | |
| 20 | g.6778462G>C | CA509817758 | BMP2 | c.564G>C (p.Val188=) c.96G>C (p.Val32=) | |
| 20 | g.6778462G>T | CA509817759 | BMP2 | c.564G>T (p.Val188=) c.96G>T (p.Val32=) | |
| 20 | g.6778463A>C | CA408258617 | BMP2 | c.565A>C (p.Thr189Pro) c.97A>C (p.Thr33Pro) | |
| 20 | g.6778463A>G | CA408258618 | BMP2 | c.565A>G (p.Thr189Ala) c.97A>G (p.Thr33Ala) | |
| 20 | g.6778463A>T | CA408258616 | BMP2 | c.565A>T (p.Thr189Ser) c.97A>T (p.Thr33Ser) | gnomAD v4 |
| 20 | g.6778464C>A | CA408258621 | BMP2 | c.566C>A (p.Thr189Asn) c.98C>A (p.Thr33Asn) | |
| 20 | g.6778464C= | CA2348112128 | BMP2 | c.566C= (p.Thr189=) c.98C= (p.Thr33=) | |
| 20 | g.6778464C>G | CA408258619 | BMP2 | c.566C>G (p.Thr189Ser) c.98C>G (p.Thr33Ser) | dbSNP |
| 20 | g.6778464C>T | CA408258620 | BMP2 | c.566C>T (p.Thr189Ile) c.98C>T (p.Thr33Ile) | |
| 20 | g.6778465C>A | CA509817763 | BMP2 | c.567C>A (p.Thr189=) c.99C>A (p.Thr33=) | |
| 20 | g.6778465C>G | CA509817762 | BMP2 | c.567C>G (p.Thr189=) c.99C>G (p.Thr33=) | gnomAD v4 |
| 20 | g.6778465C>T | CA509817761 | BMP2 | c.567C>T (p.Thr189=) c.99C>T (p.Thr33=) | |
| 20 | g.6778466A= | CA2348112129 | BMP2 | c.568A= (p.Arg190=) c.100A= (p.Arg34=) | |
| 20 | g.6778466A>C | CA509817764 | BMP2 | c.568A>C (p.Arg190=) c.100A>C (p.Arg34=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.6778466A>G | CA408258622 | BMP2 | c.568A>G (p.Arg190Gly) c.100A>G (p.Arg34Gly) | gnomAD v4 |
| 20 | g.6778466A>T | CA408258623 | BMP2 | c.568A>T (p.Arg190Ter) c.100A>T (p.Arg34Ter) | |
| 20 | g.6778467G>A | CA311471920 | BMP2 | c.569G>A (p.Arg190Lys) c.101G>A (p.Arg34Lys) | dbSNP |
| 20 | g.6778467G>C | CA408258624 | BMP2 | c.569G>C (p.Arg190Thr) c.101G>C (p.Arg34Thr) | |
| 20 | g.6778467G= | CA2348112130 | BMP2 | c.569G= (p.Arg190=) c.101G= (p.Arg34=) | |
| 20 | g.6778467G>T | CA408258625 | BMP2 | c.569G>T (p.Arg190Ile) c.101G>T (p.Arg34Ile) | |
| 20 | g.6778468A= | CA2348112131 | BMP2 | c.570A= (p.Arg190=) c.102A= (p.Arg34=) | |
| 20 | g.6778468A>C | CA408258626 | BMP2 | c.570A>C (p.Arg190Ser) c.102A>C (p.Arg34Ser) | |
| 20 | g.6778468A>G | CA509817765 | BMP2 | c.570A>G (p.Arg190=) c.102A>G (p.Arg34=) | dbSNP |
| 20 | g.6778468A>T | CA202297 | BMP2 | c.570A>T (p.Arg190Ser) c.102A>T (p.Arg34Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |