Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202515407_202524196del | CA915941641 | BMPR2 | c.621+428_967+3995del c.552+428_898+3995del | ClinVar |
2 | g.202518747T>C | CA2662705605 | BMPR2 | c.622-75T>C (n.622-75T>C) c.553-75T>C (n.553-75T>C) | gnomAD v4 |
2 | g.202518748T>C | CA2662705606 | BMPR2 | c.622-74T>C (n.622-74T>C) c.553-74T>C (n.553-74T>C) | gnomAD v4 |
2 | g.202518749G>A | CA64015423 | BMPR2 | c.622-73G>A (n.622-73G>A) c.553-73G>A (n.553-73G>A) | dbSNP |
2 | g.202518749G>C | CA538972152 | BMPR2 | c.622-73G>C (n.622-73G>C) c.553-73G>C (n.553-73G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518749G= | CA1321539597 | BMPR2 | c.622-73G= (n.622-73G=) c.553-73G= (n.553-73G=) | |
2 | g.202518750T>C | CA1321539599 | BMPR2 | c.622-72T>C (n.622-72T>C) c.553-72T>C (n.553-72T>C) | dbSNP |
2 | g.202518750T= | CA1321539598 | BMPR2 | c.622-72T= (n.622-72T=) c.553-72T= (n.553-72T=) | |
2 | g.202518751A>T | CA2662705607 | BMPR2 | c.622-71A>T (n.622-71A>T) c.553-71A>T (n.553-71A>T) | gnomAD v4 |
2 | g.202518752C>A | CA2662705608 | BMPR2 | c.622-70C>A (n.622-70C>A) c.553-70C>A (n.553-70C>A) | gnomAD v4 |
2 | g.202518752C= | CA1321539600 | BMPR2 | c.622-70C= (n.622-70C=) c.553-70C= (n.553-70C=) | |
2 | g.202518752C>G | CA2662705609 | BMPR2 | c.622-70C>G (n.622-70C>G) c.553-70C>G (n.553-70C>G) | gnomAD v4 |
2 | g.202518752C>T | CA763426095 | BMPR2 | c.622-70C>T (n.622-70C>T) c.553-70C>T (n.553-70C>T) | dbSNP gnomAD v4 |
2 | g.202518753T>A | CA64015432 | BMPR2 | c.622-69T>A (n.622-69T>A) c.553-69T>A (n.553-69T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518753T= | CA1321539601 | BMPR2 | c.622-69T= (n.622-69T=) c.553-69T= (n.553-69T=) | |
2 | g.202518757_202518763del | CA2662705610 | BMPR2 | c.622-65_622-59del (n.622-65_622-59del) c.553-65_553-59del (n.553-65_553-59del) | gnomAD v4 |
2 | g.202518754T>G | CA2662705611 | BMPR2 | c.622-68T>G (n.622-68T>G) c.553-68T>G (n.553-68T>G) | gnomAD v4 |
2 | g.202518755T>C | CA64015444 | BMPR2 | c.622-67T>C (n.622-67T>C) c.553-67T>C (n.553-67T>C) | dbSNP gnomAD v4 |
2 | g.202518755T>G | CA2577215589 | BMPR2 | c.622-67T>G (n.622-67T>G) c.553-67T>G (n.553-67T>G) | |
2 | g.202518755T= | CA1321539602 | BMPR2 | c.622-67T= (n.622-67T=) c.553-67T= (n.553-67T=) | |
2 | g.202518756A= | CA1321539603 | BMPR2 | c.622-66A= (n.622-66A=) c.553-66A= (n.553-66A=) | |
2 | g.202518756A>G | CA763426101 | BMPR2 | c.622-66A>G (n.622-66A>G) c.553-66A>G (n.553-66A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518756A>T | CA2662705612 | BMPR2 | c.622-66A>T (n.622-66A>T) c.553-66A>T (n.553-66A>T) | gnomAD v4 |
2 | g.202518757T>A | CA538972155 | BMPR2 | c.622-65T>A (n.622-65T>A) c.553-65T>A (n.553-65T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518757T= | CA1321539604 | BMPR2 | c.622-65T= (n.622-65T=) c.553-65T= (n.553-65T=) | |
2 | g.202518758del | CA2662705613 | BMPR2 | c.622-64del (n.622-64del) c.553-64del (n.553-64del) | gnomAD v4 |
2 | g.202518759_202518760delinsAT | CA1321539605 | BMPR2 | c.622-63_622-62delinsAT (n.622-63_622-62delinsAT) c.553-63_553-62delinsAT (n.553-63_553-62delinsAT) | |
2 | g.202518760T>G | CA538972159 | BMPR2 | c.622-62T>G (n.622-62T>G) c.553-62T>G (n.553-62T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518760T= | CA1321539606 | BMPR2 | c.622-62T= (n.622-62T=) c.553-62T= (n.553-62T=) | |
2 | g.202518762del | CA538972158 | BMPR2 | c.622-60del (n.622-60del) c.553-60del (n.553-60del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518763A>T | CA2662705614 | BMPR2 | c.622-59A>T (n.622-59A>T) c.553-59A>T (n.553-59A>T) | gnomAD v4 |
2 | g.202518769T>C | CA1041341554 | BMPR2 | c.622-53T>C (n.622-53T>C) c.553-53T>C (n.553-53T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518769T= | CA1321539607 | BMPR2 | c.622-53T= (n.622-53T=) c.553-53T= (n.553-53T=) | |
2 | g.202518770T>C | CA1321539609 | BMPR2 | c.622-52T>C (n.622-52T>C) c.553-52T>C (n.553-52T>C) | dbSNP gnomAD v4 |
2 | g.202518770T= | CA1321539608 | BMPR2 | c.622-52T= (n.622-52T=) c.553-52T= (n.553-52T=) | |
2 | g.202518771T>A | CA763426108 | BMPR2 | c.622-51T>A (n.622-51T>A) c.553-51T>A (n.553-51T>A) | dbSNP |
2 | g.202518771T= | CA1321539610 | BMPR2 | c.622-51T= (n.622-51T=) c.553-51T= (n.553-51T=) | |
2 | g.202518772G>T | CA2662705615 | BMPR2 | c.622-50G>T (n.622-50G>T) c.553-50G>T (n.553-50G>T) | gnomAD v4 |
2 | g.202518774T>C | CA2662705616 | BMPR2 | c.622-48T>C (n.622-48T>C) c.553-48T>C (n.553-48T>C) | gnomAD v4 |
2 | g.202518774T>G | CA2662705617 | BMPR2 | c.622-48T>G (n.622-48T>G) c.553-48T>G (n.553-48T>G) | gnomAD v4 |
2 | g.202518775T>C | CA2577215590 | BMPR2 | c.622-47T>C (n.622-47T>C) c.553-47T>C (n.553-47T>C) | |
2 | g.202518775T>G | CA64015449 | BMPR2 | c.622-47T>G (n.622-47T>G) c.553-47T>G (n.553-47T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518775T= | CA1321539611 | BMPR2 | c.622-47T= (n.622-47T=) c.553-47T= (n.553-47T=) | |
2 | g.202518776G>A | CA2577215591 | BMPR2 | c.622-46G>A (n.622-46G>A) c.553-46G>A (n.553-46G>A) | |
2 | g.202518776G>T | CA2662705618 | BMPR2 | c.622-46G>T (n.622-46G>T) c.553-46G>T (n.553-46G>T) | gnomAD v4 |
2 | g.202518779C>A | CA2662705619 | BMPR2 | c.622-43C>A (n.622-43C>A) c.553-43C>A (n.553-43C>A) | gnomAD v4 |
2 | g.202518779C= | CA1321539612 | BMPR2 | c.622-43C= (n.622-43C=) c.553-43C= (n.553-43C=) | |
2 | g.202518779C>G | CA2061167 | BMPR2 | c.622-43C>G (n.622-43C>G) c.553-43C>G (n.553-43C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518780A= | CA1321539613 | BMPR2 | c.622-42A= (n.622-42A=) c.553-42A= (n.553-42A=) | |
2 | g.202518780A>T | CA1321539614 | BMPR2 | c.622-42A>T (n.622-42A>T) c.553-42A>T (n.553-42A>T) | dbSNP |
2 | g.202518781A= | CA1321539615 | BMPR2 | c.622-41A= (n.622-41A=) c.553-41A= (n.553-41A=) | |
2 | g.202518781A>G | CA2061168 | BMPR2 | c.622-41A>G (n.622-41A>G) c.553-41A>G (n.553-41A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518782T>C | CA64015489 | BMPR2 | c.622-40T>C (n.622-40T>C) c.553-40T>C (n.553-40T>C) | dbSNP gnomAD v4 |
2 | g.202518782T= | CA1321539616 | BMPR2 | c.622-40T= (n.622-40T=) c.553-40T= (n.553-40T=) | |
2 | g.202518783T>G | CA1041341558 | BMPR2 | c.622-39T>G (n.622-39T>G) c.553-39T>G (n.553-39T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518783T= | CA1321539617 | BMPR2 | c.622-39T= (n.622-39T=) c.553-39T= (n.553-39T=) | |
2 | g.202518784G>A | CA538972170 | BMPR2 | c.622-38G>A (n.622-38G>A) c.553-38G>A (n.553-38G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518784G= | CA1321539618 | BMPR2 | c.622-38G= (n.622-38G=) c.553-38G= (n.553-38G=) | |
2 | g.202518785T>A | CA1321539619 | BMPR2 | c.622-37T>A (n.622-37T>A) c.553-37T>A (n.553-37T>A) | dbSNP |
2 | g.202518785T= | CA1321539620 | BMPR2 | c.622-37T= (n.622-37T=) c.553-37T= (n.553-37T=) | |
2 | g.202518786G>A | CA2061169 | BMPR2 | c.622-36G>A (n.622-36G>A) c.553-36G>A (n.553-36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518786G= | CA1321539621 | BMPR2 | c.622-36G= (n.622-36G=) c.553-36G= (n.553-36G=) | |
2 | g.202518786G>T | CA2607240917 | BMPR2 | c.622-36G>T (n.622-36G>T) c.553-36G>T (n.553-36G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518787A= | CA1321539622 | BMPR2 | c.622-35A= (n.622-35A=) c.553-35A= (n.553-35A=) | |
2 | g.202518787A>G | CA2607240918 | BMPR2 | c.622-35A>G (n.622-35A>G) c.553-35A>G (n.553-35A>G) | gnomAD v3 gnomAD v4 |
2 | g.202518787A>T | CA2061170 | BMPR2 | c.622-35A>T (n.622-35A>T) c.553-35A>T (n.553-35A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518789A= | CA1321539623 | BMPR2 | c.622-33A= (n.622-33A=) c.553-33A= (n.553-33A=) | |
2 | g.202518789A>G | CA538972173 | BMPR2 | c.622-33A>G (n.622-33A>G) c.553-33A>G (n.553-33A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518789A>T | CA2607240919 | BMPR2 | c.622-33A>T (n.622-33A>T) c.553-33A>T (n.553-33A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518790T>C | CA64015521 | BMPR2 | c.622-32T>C (n.622-32T>C) c.553-32T>C (n.553-32T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518790T= | CA1321539624 | BMPR2 | c.622-32T= (n.622-32T=) c.553-32T= (n.553-32T=) | |
2 | g.202518791T>C | CA2662705620 | BMPR2 | c.622-31T>C (n.622-31T>C) c.553-31T>C (n.553-31T>C) | gnomAD v4 |
2 | g.202518791_202518792delinsTA | CA1321539625 | BMPR2 | c.622-31_622-30delinsTA (n.622-31_622-30delinsTA) c.553-31_553-30delinsTA (n.553-31_553-30delinsTA) | |
2 | g.202518792A>T | CA2607240922 | BMPR2 | c.622-30A>T (n.622-30A>T) c.553-30A>T (n.553-30A>T) | gnomAD v3 gnomAD v4 |
2 | g.202518793del | CA2061171 | BMPR2 | c.622-29del (n.622-29del) c.553-29del (n.553-29del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518793A= | CA1321539626 | BMPR2 | c.622-29A= (n.622-29A=) c.553-29A= (n.553-29A=) | |
2 | g.202518793A>G | CA2061172 | BMPR2 | c.622-29A>G (n.622-29A>G) c.553-29A>G (n.553-29A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518795A= | CA1321539627 | BMPR2 | c.622-27A= (n.622-27A=) c.553-27A= (n.553-27A=) | |
2 | g.202518795A>G | CA538972187 | BMPR2 | c.622-27A>G (n.622-27A>G) c.553-27A>G (n.553-27A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518796C= | CA1321539628 | BMPR2 | c.622-26C= (n.622-26C=) c.553-26C= (n.553-26C=) | |
2 | g.202518796C>G | CA2061173 | BMPR2 | c.622-26C>G (n.622-26C>G) c.553-26C>G (n.553-26C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518796C>T | CA2701326710 | BMPR2 | c.622-26C>T (n.622-26C>T) c.553-26C>T (n.553-26C>T) | dbSNP |
2 | g.202518797C>A | CA2662705621 | BMPR2 | c.622-25C>A (n.622-25C>A) c.553-25C>A (n.553-25C>A) | gnomAD v4 |
2 | g.202518797C= | CA1321539629 | BMPR2 | c.622-25C= (n.622-25C=) c.553-25C= (n.553-25C=) | |
2 | g.202518797C>T | CA2061174 | BMPR2 | c.622-25C>T (n.622-25C>T) c.553-25C>T (n.553-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518798T>G | CA647681725 | BMPR2 | c.622-24T>G (n.622-24T>G) c.553-24T>G (n.553-24T>G) | COSMIC |
2 | g.202518799T>C | CA1321539631 | BMPR2 | c.622-23T>C (n.622-23T>C) c.553-23T>C (n.553-23T>C) | dbSNP |
2 | g.202518799T= | CA1321539630 | BMPR2 | c.622-23T= (n.622-23T=) c.553-23T= (n.553-23T=) | |
2 | g.202518800G>A | CA2753905647 | BMPR2 | c.622-22G>A (n.622-22G>A) c.553-22G>A (n.553-22G>A) | |
2 | g.202518800G= | CA1321539632 | BMPR2 | c.622-22G= (n.622-22G=) c.553-22G= (n.553-22G=) | |
2 | g.202518800G>T | CA538972198 | BMPR2 | c.622-22G>T (n.622-22G>T) c.553-22G>T (n.553-22G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518801C>A | CA2662705622 | BMPR2 | c.622-21C>A (n.622-21C>A) c.553-21C>A (n.553-21C>A) | gnomAD v4 |
2 | g.202518801C>T | CA2662705623 | BMPR2 | c.622-21C>T (n.622-21C>T) c.553-21C>T (n.553-21C>T) | gnomAD v4 |
2 | g.202518801_202518802delinsCT | CA1321539633 | BMPR2 | c.622-21_622-20delinsCT (n.622-21_622-20delinsCT) c.553-21_553-20delinsCT (n.553-21_553-20delinsCT) | |
2 | g.202518804del | CA763426129 | BMPR2 | c.622-18del (n.622-18del) c.553-18del (n.553-18del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518803T>G | CA763426132 | BMPR2 | c.622-19T>G (n.622-19T>G) c.553-19T>G (n.553-19T>G) | dbSNP |
2 | g.202518803T= | CA1321539634 | BMPR2 | c.622-19T= (n.622-19T=) c.553-19T= (n.553-19T=) | |
2 | g.202518804T>C | CA1321539636 | BMPR2 | c.622-18T>C (n.622-18T>C) c.553-18T>C (n.553-18T>C) | dbSNP |
2 | g.202518804T= | CA1321539635 | BMPR2 | c.622-18T= (n.622-18T=) c.553-18T= (n.553-18T=) | |
2 | g.202518805C= | CA1321539637 | BMPR2 | c.622-17C= (n.622-17C=) c.553-17C= (n.553-17C=) | |
2 | g.202518805C>T | CA2061175 | BMPR2 | c.622-17C>T (n.622-17C>T) c.553-17C>T (n.553-17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518808T>C | CA2662705624 | BMPR2 | c.622-14T>C (n.622-14T>C) c.553-14T>C (n.553-14T>C) | gnomAD v4 |
2 | g.202518809A= | CA1321539638 | BMPR2 | c.622-13A= (n.622-13A=) c.553-13A= (n.553-13A=) | |
2 | g.202518809A>G | CA2662705625 | BMPR2 | c.622-13A>G (n.622-13A>G) c.553-13A>G (n.553-13A>G) | gnomAD v4 |
2 | g.202518809A>T | CA64015562 | BMPR2 | c.622-13A>T (n.622-13A>T) c.553-13A>T (n.553-13A>T) | dbSNP |
2 | g.202518811A= | CA1321539639 | BMPR2 | c.622-11A= (n.622-11A=) c.553-11A= (n.553-11A=) | |
2 | g.202518811A>C | CA2061176 | BMPR2 | c.622-11A>C (n.622-11A>C) c.553-11A>C (n.553-11A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518815C>A | CA2662705626 | BMPR2 | c.622-7C>A (n.622-7C>A) c.553-7C>A (n.553-7C>A) | dbSNP gnomAD v4 |
2 | g.202518815C>T | CA2662705627 | BMPR2 | c.622-7C>T (n.622-7C>T) c.553-7C>T (n.553-7C>T) | gnomAD v4 |
2 | g.202518816T>G | CA2662705628 | BMPR2 | c.622-6T>G (n.622-6T>G) c.553-6T>G (n.553-6T>G) | gnomAD v4 |
2 | g.202518817T>G | CA2662705629 | BMPR2 | c.622-5T>G (n.622-5T>G) c.553-5T>G (n.553-5T>G) | gnomAD v4 |
2 | g.202518818G>A | CA1321539641 | BMPR2 | c.622-4G>A (n.622-4G>A) c.553-4G>A (n.553-4G>A) | dbSNP |
2 | g.202518818G= | CA1321539640 | BMPR2 | c.622-4G= (n.622-4G=) c.553-4G= (n.553-4G=) | |
2 | g.202518818G>T | CA2061177 | BMPR2 | c.622-4G>T (n.622-4G>T) c.553-4G>T (n.553-4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518819C= | CA1321539642 | BMPR2 | c.622-3C= (n.622-3C=) c.553-3C= (n.553-3C=) | |
2 | g.202518819C>G | CA2061178 | BMPR2 | c.622-3C>G (n.622-3C>G) c.553-3C>G (n.553-3C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518819C>T | CA2662705630 | BMPR2 | c.622-3C>T (n.622-3C>T) c.553-3C>T (n.553-3C>T) | gnomAD v4 |
2 | g.202518820A>C | CA350340048 | BMPR2 | c.622-2A>C (n.622-2A>C) c.553-2A>C (n.553-2A>C) | |
2 | g.202518820A>G | CA350340049 | BMPR2 | c.622-2A>G (n.622-2A>G) c.553-2A>G (n.553-2A>G) | |
2 | g.202518820A>T | CA350340050 | BMPR2 | c.622-2A>T (n.622-2A>T) c.553-2A>T (n.553-2A>T) | |
2 | g.202518821G>A | CA350340051 | BMPR2 | c.622-1G>A (n.622-1G>A) c.553-1G>A (n.553-1G>A) | |
2 | g.202518821G>C | CA350340053 | BMPR2 | c.622-1G>C (n.622-1G>C) c.553-1G>C (n.553-1G>C) | |
2 | g.202518821G= | CA1321539643 | BMPR2 | c.622-1G= (n.622-1G=) c.553-1G= (n.553-1G=) | |
2 | g.202518821G>T | CA350340052 | BMPR2 | c.622-1G>T (n.622-1G>T) c.553-1G>T (n.553-1G>T) | ClinVar dbSNP |
2 | g.202518822C>A | CA350340054 | BMPR2 | c.622C>A (p.Leu208Met) c.553C>A (p.Leu185Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518822C= | CA1321539644 | BMPR2 | c.622C= (p.Leu208=) c.553C= (p.Leu185=) | |
2 | g.202518822C>G | CA350340055 | BMPR2 | c.622C>G (p.Leu208Val) c.553C>G (p.Leu185Val) | |
2 | g.202518822C>T | CA430838865 | BMPR2 | c.622C>T (p.Leu208=) c.553C>T (p.Leu185=) | |
2 | g.202518823T>A | CA350340056 | BMPR2 | c.623T>A (p.Leu208Gln) c.554T>A (p.Leu185Gln) | |
2 | g.202518823T>C | CA350340057 | BMPR2 | c.623T>C (p.Leu208Pro) c.554T>C (p.Leu185Pro) | |
2 | g.202518823T>G | CA350340058 | BMPR2 | c.623T>G (p.Leu208Arg) c.554T>G (p.Leu185Arg) | |
2 | g.202518824G>A | CA430838876 | BMPR2 | c.624G>A (p.Leu208=) c.555G>A (p.Leu185=) | gnomAD v4 |
2 | g.202518824G>C | CA430838874 | BMPR2 | c.624G>C (p.Leu208=) c.555G>C (p.Leu185=) | dbSNP |
2 | g.202518824G>T | CA430838872 | BMPR2 | c.624G>T (p.Leu208=) c.555G>T (p.Leu185=) | |
2 | g.202518825A>C | CA350340059 | BMPR2 | c.625A>C (p.Ile209Leu) c.556A>C (p.Ile186Leu) | |
2 | g.202518825A>G | CA350340060 | BMPR2 | c.625A>G (p.Ile209Val) c.556A>G (p.Ile186Val) | |
2 | g.202518825A>T | CA350340061 | BMPR2 | c.625A>T (p.Ile209Phe) c.556A>T (p.Ile186Phe) | |
2 | g.202518826T>A | CA350340062 | BMPR2 | c.626T>A (p.Ile209Asn) c.557T>A (p.Ile186Asn) | |
2 | g.202518826T>C | CA350340063 | BMPR2 | c.626T>C (p.Ile209Thr) c.557T>C (p.Ile186Thr) | gnomAD v4 |
2 | g.202518826T>G | CA350340064 | BMPR2 | c.626T>G (p.Ile209Ser) c.557T>G (p.Ile186Ser) | |
2 | g.202518827T>A | CA430838883 | BMPR2 | c.627T>A (p.Ile209=) c.558T>A (p.Ile186=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518827T>C | CA430838884 | BMPR2 | c.627T>C (p.Ile209=) c.558T>C (p.Ile186=) | |
2 | g.202518827T>G | CA350340065 | BMPR2 | c.627T>G (p.Ile209Met) c.558T>G (p.Ile186Met) | |
2 | g.202518827T= | CA1321539645 | BMPR2 | c.627T= (p.Ile209=) c.558T= (p.Ile186=) | |
2 | g.202518828G>A | CA350340068 | BMPR2 | c.628G>A (p.Gly210Ser) c.559G>A (p.Gly187Ser) | |
2 | g.202518828G>C | CA350340066 | BMPR2 | c.628G>C (p.Gly210Arg) c.559G>C (p.Gly187Arg) | |
2 | g.202518828G>T | CA350340067 | BMPR2 | c.628G>T (p.Gly210Cys) c.559G>T (p.Gly187Cys) | |
2 | g.202518829G>A | CA350340069 | BMPR2 | c.629G>A (p.Gly210Asp) c.560G>A (p.Gly187Asp) | dbSNP |
2 | g.202518829G>C | CA350340070 | BMPR2 | c.629G>C (p.Gly210Ala) c.560G>C (p.Gly187Ala) | |
2 | g.202518829G>T | CA350340071 | BMPR2 | c.629G>T (p.Gly210Val) c.560G>T (p.Gly187Val) | |
2 | g.202518830C>A | CA430838895 | BMPR2 | c.630C>A (p.Gly210=) c.561C>A (p.Gly187=) | |
2 | g.202518830C>G | CA430838898 | BMPR2 | c.630C>G (p.Gly210=) c.561C>G (p.Gly187=) | |
2 | g.202518830C>T | CA430838900 | BMPR2 | c.630C>T (p.Gly210=) c.561C>T (p.Gly187=) | dbSNP gnomAD v4 |
2 | g.202518831C>A | CA430838903 | BMPR2 | c.631C>A (p.Arg211=) c.562C>A (p.Arg188=) | |
2 | g.202518831C= | CA1321539646 | BMPR2 | c.631C= (p.Arg211=) c.562C= (p.Arg188=) | |
2 | g.202518831C>G | CA350340072 | BMPR2 | c.631C>G (p.Arg211Gly) c.562C>G (p.Arg188Gly) | |
2 | g.202518831C>T | CA119933 | BMPR2 | c.631C>T (p.Arg211Ter) c.562C>T (p.Arg188Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.202518832G>A | CA2061179 | BMPR2 | c.632G>A (p.Arg211Gln) c.563G>A (p.Arg188Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.202518832G>C | CA350340073 | BMPR2 | c.632G>C (p.Arg211Pro) c.563G>C (p.Arg188Pro) | COSMIC |
2 | g.202518832G= | CA1321539647 | BMPR2 | c.632G= (p.Arg211=) c.563G= (p.Arg188=) | |
2 | g.202518832G>T | CA350340074 | BMPR2 | c.632G>T (p.Arg211Leu) c.563G>T (p.Arg188Leu) | |
2 | g.202518833A>C | CA430838906 | BMPR2 | c.633A>C (p.Arg211=) c.564A>C (p.Arg188=) | |
2 | g.202518833A>G | CA430838907 | BMPR2 | c.633A>G (p.Arg211=) c.564A>G (p.Arg188=) | |
2 | g.202518833A>T | CA430838908 | BMPR2 | c.633A>T (p.Arg211=) c.564A>T (p.Arg188=) | |
2 | g.202518834G>A | CA350340075 | BMPR2 | c.634G>A (p.Gly212Ser) c.565G>A (p.Gly189Ser) | |
2 | g.202518834G>C | CA350340076 | BMPR2 | c.634G>C (p.Gly212Arg) c.565G>C (p.Gly189Arg) | |
2 | g.202518834G>T | CA350340077 | BMPR2 | c.634G>T (p.Gly212Cys) c.565G>T (p.Gly189Cys) | dbSNP |
2 | g.202518835G>A | CA350340079 | BMPR2 | c.635G>A (p.Gly212Asp) c.566G>A (p.Gly189Asp) | |
2 | g.202518835G>C | CA350340080 | BMPR2 | c.635G>C (p.Gly212Ala) c.566G>C (p.Gly189Ala) | |
2 | g.202518835G>T | CA350340078 | BMPR2 | c.635G>T (p.Gly212Val) c.566G>T (p.Gly189Val) | |
2 | g.202518836T>A | CA430838909 | BMPR2 | c.636T>A (p.Gly212=) c.567T>A (p.Gly189=) | |
2 | g.202518836T>C | CA430838910 | BMPR2 | c.636T>C (p.Gly212=) c.567T>C (p.Gly189=) | |
2 | g.202518836T>G | CA430838911 | BMPR2 | c.636T>G (p.Gly212=) c.567T>G (p.Gly189=) | |
2 | g.202518837C>A | CA430838912 | BMPR2 | c.637C>A (p.Arg213=) c.568C>A (p.Arg190=) | gnomAD v4 |
2 | g.202518837C= | CA1321539648 | BMPR2 | c.637C= (p.Arg213=) c.568C= (p.Arg190=) | |
2 | g.202518837C>G | CA350340081 | BMPR2 | c.637C>G (p.Arg213Gly) c.568C>G (p.Arg190Gly) | gnomAD v4 |
2 | g.202518837C>T | CA10602824 | BMPR2 | c.637C>T (p.Arg213Ter) c.568C>T (p.Arg190Ter) | ClinVar dbSNP COSMIC |
2 | g.202518838G>A | CA2061180 | BMPR2 | c.638G>A (p.Arg213Gln) c.569G>A (p.Arg190Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518838G>C | CA350340082 | BMPR2 | c.638G>C (p.Arg213Pro) c.569G>C (p.Arg190Pro) | |
2 | g.202518838G= | CA1321539649 | BMPR2 | c.638G= (p.Arg213=) c.569G= (p.Arg190=) | |
2 | g.202518838G>T | CA350340083 | BMPR2 | c.638G>T (p.Arg213Leu) c.569G>T (p.Arg190Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518839A>C | CA430838913 | BMPR2 | c.639A>C (p.Arg213=) c.570A>C (p.Arg190=) | gnomAD v4 |
2 | g.202518839A>G | CA430838914 | BMPR2 | c.639A>G (p.Arg213=) c.570A>G (p.Arg190=) | |
2 | g.202518839A>T | CA430838915 | BMPR2 | c.639A>T (p.Arg213=) c.570A>T (p.Arg190=) | |
2 | g.202518840T>A | CA350340084 | BMPR2 | c.640T>A (p.Tyr214Asn) c.571T>A (p.Tyr191Asn) | |
2 | g.202518840T>C | CA350340085 | BMPR2 | c.640T>C (p.Tyr214His) c.571T>C (p.Tyr191His) | |
2 | g.202518840T>G | CA350340086 | BMPR2 | c.640T>G (p.Tyr214Asp) c.571T>G (p.Tyr191Asp) | |
2 | g.202518841A= | CA1321539650 | BMPR2 | c.641A= (p.Tyr214=) c.572A= (p.Tyr191=) | |
2 | g.202518841A>C | CA350340087 | BMPR2 | c.641A>C (p.Tyr214Ser) c.572A>C (p.Tyr191Ser) | |
2 | g.202518841A>G | CA350340088 | BMPR2 | c.641A>G (p.Tyr214Cys) c.572A>G (p.Tyr191Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518841A>T | CA2061181 | BMPR2 | c.641A>T (p.Tyr214Phe) c.572A>T (p.Tyr191Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518842T>A | CA350340089 | BMPR2 | c.642T>A (p.Tyr214Ter) c.573T>A (p.Tyr191Ter) | COSMIC |
2 | g.202518842T>C | CA430838916 | BMPR2 | c.642T>C (p.Tyr214=) c.573T>C (p.Tyr191=) | dbSNP gnomAD v4 |
2 | g.202518842T>G | CA350340090 | BMPR2 | c.642T>G (p.Tyr214Ter) c.573T>G (p.Tyr191Ter) | ClinVar dbSNP |
2 | g.202518842T= | CA1321539651 | BMPR2 | c.642T= (p.Tyr214=) c.573T= (p.Tyr191=) | |
2 | g.202518843G>A | CA350340093 | BMPR2 | c.643G>A (p.Gly215Arg) c.574G>A (p.Gly192Arg) | |
2 | g.202518843G>C | CA350340092 | BMPR2 | c.643G>C (p.Gly215Arg) c.574G>C (p.Gly192Arg) | |
2 | g.202518843G>T | CA350340091 | BMPR2 | c.643G>T (p.Gly215Ter) c.574G>T (p.Gly192Ter) | |
2 | g.202518844G>A | CA2061182 | BMPR2 | c.644G>A (p.Gly215Glu) c.575G>A (p.Gly192Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518844G>C | CA350340094 | BMPR2 | c.644G>C (p.Gly215Ala) c.575G>C (p.Gly192Ala) | |
2 | g.202518844G= | CA1321539652 | BMPR2 | c.644G= (p.Gly215=) c.575G= (p.Gly192=) | |
2 | g.202518844G>T | CA350340095 | BMPR2 | c.644G>T (p.Gly215Val) c.575G>T (p.Gly192Val) | |
2 | g.202518845A>C | CA430838919 | BMPR2 | c.645A>C (p.Gly215=) c.576A>C (p.Gly192=) | |
2 | g.202518845A>G | CA430838920 | BMPR2 | c.645A>G (p.Gly215=) c.576A>G (p.Gly192=) | |
2 | g.202518845A>T | CA430838918 | BMPR2 | c.645A>T (p.Gly215=) c.576A>T (p.Gly192=) | |
2 | g.202518846G>A | CA350340096 | BMPR2 | c.646G>A (p.Ala216Thr) c.577G>A (p.Ala193Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518846G>C | CA350340097 | BMPR2 | c.646G>C (p.Ala216Pro) c.577G>C (p.Ala193Pro) | |
2 | g.202518846G= | CA1321539653 | BMPR2 | c.646G= (p.Ala216=) c.577G= (p.Ala193=) | |
2 | g.202518846G>T | CA350340098 | BMPR2 | c.646G>T (p.Ala216Ser) c.577G>T (p.Ala193Ser) | |
2 | g.202518847C>A | CA350340099 | BMPR2 | c.647C>A (p.Ala216Glu) c.578C>A (p.Ala193Glu) | |
2 | g.202518847C= | CA1321539654 | BMPR2 | c.647C= (p.Ala216=) c.578C= (p.Ala193=) | |
2 | g.202518847C>G | CA350340100 | BMPR2 | c.647C>G (p.Ala216Gly) c.578C>G (p.Ala193Gly) | |
2 | g.202518847C>T | CA350340101 | BMPR2 | c.647C>T (p.Ala216Val) c.578C>T (p.Ala193Val) | dbSNP |