Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202508280_202517537del | CA915941637 | BMPR2 | c.419-5439_622-1285del c.350-5439_553-1285del | ClinVar |
2 | g.202513655_202513658del | CA1041339347 | BMPR2 | c.419-64_419-61del (n.419-64_419-61del) c.350-64_350-61del (n.350-64_350-61del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202513654_202513656delinsCTG | CA1321537264 | BMPR2 | c.419-65_419-63delinsCTG (n.419-65_419-63delinsCTG) c.350-65_350-63delinsCTG (n.350-65_350-63delinsCTG) | |
2 | g.202513656_202513657del | CA538969737 | BMPR2 | c.419-63_419-62del (n.419-63_419-62del) c.350-63_350-62del (n.350-63_350-62del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513656G>A | CA64011870 | BMPR2 | c.419-63G>A (n.419-63G>A) c.350-63G>A (n.350-63G>A) | dbSNP gnomAD v4 |
2 | g.202513656G= | CA1321537269 | BMPR2 | c.419-63G= (n.419-63G=) c.350-63G= (n.350-63G=) | |
2 | g.202513656G>T | CA2662705346 | BMPR2 | c.419-63G>T (n.419-63G>T) c.350-63G>T (n.350-63G>T) | gnomAD v4 |
2 | g.202513657T>A | CA2662705347 | BMPR2 | c.419-62T>A (n.419-62T>A) c.350-62T>A (n.350-62T>A) | gnomAD v4 |
2 | g.202513658C>A | CA2662705348 | BMPR2 | c.419-61C>A (n.419-61C>A) c.350-61C>A (n.350-61C>A) | gnomAD v4 |
2 | g.202513659A>T | CA2662705349 | BMPR2 | c.419-60A>T (n.419-60A>T) c.350-60A>T (n.350-60A>T) | gnomAD v4 |
2 | g.202513660G>A | CA2662705350 | BMPR2 | c.419-59G>A (n.419-59G>A) c.350-59G>A (n.350-59G>A) | gnomAD v4 |
2 | g.202513660G>T | CA2662705351 | BMPR2 | c.419-59G>T (n.419-59G>T) c.350-59G>T (n.350-59G>T) | gnomAD v4 |
2 | g.202513661T>C | CA2753905451 | BMPR2 | c.419-58T>C (n.419-58T>C) c.350-58T>C (n.350-58T>C) | |
2 | g.202513663T>C | CA64011878 | BMPR2 | c.419-56T>C (n.419-56T>C) c.350-56T>C (n.350-56T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202513663T= | CA1321537270 | BMPR2 | c.419-56T= (n.419-56T=) c.350-56T= (n.350-56T=) | |
2 | g.202513666A>T | CA2662705352 | BMPR2 | c.419-53A>T (n.419-53A>T) c.350-53A>T (n.350-53A>T) | gnomAD v4 |
2 | g.202513667A= | CA1321537271 | BMPR2 | c.419-52A= (n.419-52A=) c.350-52A= (n.350-52A=) | |
2 | g.202513667A>G | CA2662705353 | BMPR2 | c.419-52A>G (n.419-52A>G) c.350-52A>G (n.350-52A>G) | gnomAD v4 |
2 | g.202513667A>T | CA64011881 | BMPR2 | c.419-52A>T (n.419-52A>T) c.350-52A>T (n.350-52A>T) | dbSNP gnomAD v4 |
2 | g.202513668C>A | CA2662705354 | BMPR2 | c.419-51C>A (n.419-51C>A) c.350-51C>A (n.350-51C>A) | gnomAD v4 |
2 | g.202513668C>G | CA2577215535 | BMPR2 | c.419-51C>G (n.419-51C>G) c.350-51C>G (n.350-51C>G) | |
2 | g.202513670A>T | CA2577215536 | BMPR2 | c.419-49A>T (n.419-49A>T) c.350-49A>T (n.350-49A>T) | |
2 | g.202513673T>C | CA2577215537 | BMPR2 | c.419-46T>C (n.419-46T>C) c.350-46T>C (n.350-46T>C) | gnomAD v4 |
2 | g.202513674_202513676delinsACT | CA1321537272 | BMPR2 | c.419-45_419-43delinsACT (n.419-45_419-43delinsACT) c.350-45_350-43delinsACT (n.350-45_350-43delinsACT) | |
2 | g.202513675C>A | CA2061115 | BMPR2 | c.419-44C>A (n.419-44C>A) c.350-44C>A (n.350-44C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202513675C= | CA1321537273 | BMPR2 | c.419-44C= (n.419-44C=) c.350-44C= (n.350-44C=) | |
2 | g.202513675C>G | CA763444926 | BMPR2 | c.419-44C>G (n.419-44C>G) c.350-44C>G (n.350-44C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202513675C>T | CA2061114 | BMPR2 | c.419-44C>T (n.419-44C>T) c.350-44C>T (n.350-44C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202513675_202513676del | CA1321537275 | BMPR2 | c.419-44_419-43del (n.419-44_419-43del) c.350-44_350-43del (n.350-44_350-43del) | dbSNP |
2 | g.202513675_202513677delinsCTT | CA1321537274 | BMPR2 | c.419-44_419-42delinsCTT (n.419-44_419-42delinsCTT) c.350-44_350-42delinsCTT (n.350-44_350-42delinsCTT) | |
2 | g.202513676T>C | CA1321537278 | BMPR2 | c.419-43T>C (n.419-43T>C) c.350-43T>C (n.350-43T>C) | dbSNP gnomAD v4 |
2 | g.202513676T>G | CA2563514543 | BMPR2 | c.419-43T>G (n.419-43T>G) c.350-43T>G (n.350-43T>G) | gnomAD v4 |
2 | g.202513676T= | CA1321537277 | BMPR2 | c.419-43T= (n.419-43T=) c.350-43T= (n.350-43T=) | |
2 | g.202513681dup | CA2662705355 | BMPR2 | c.419-38dup (n.419-38dup) c.350-38dup (n.350-38dup) | dbSNP gnomAD v4 |
2 | g.202513681del | CA2061113 | BMPR2 | c.419-38del (n.419-38del) c.350-38del (n.350-38del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513680_202513681del | CA1321537276 | BMPR2 | c.419-39_419-38del (n.419-39_419-38del) c.350-39_350-38del (n.350-39_350-38del) | dbSNP |
2 | g.202513680T>A | CA2662705356 | BMPR2 | c.419-39T>A (n.419-39T>A) c.350-39T>A (n.350-39T>A) | gnomAD v4 |
2 | g.202513680_202513681insA | CA2662705357 | BMPR2 | c.419-39_419-38insA (n.419-39_419-38insA) c.350-39_350-38insA (n.350-39_350-38insA) | gnomAD v4 |
2 | g.202513680_202513681insAA | CA2662705358 | BMPR2 | c.419-39_419-38insAA (n.419-39_419-38insAA) c.350-39_350-38insAA (n.350-39_350-38insAA) | gnomAD v4 |
2 | g.202513681T>A | CA2061116 | BMPR2 | c.419-38T>A (n.419-38T>A) c.350-38T>A (n.350-38T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513681T>C | CA2753905464 | BMPR2 | c.419-38T>C (n.419-38T>C) c.350-38T>C (n.350-38T>C) | |
2 | g.202513681T= | CA1321537279 | BMPR2 | c.419-38T= (n.419-38T=) c.350-38T= (n.350-38T=) | |
2 | g.202513681_202513682del | CA2662705359 | BMPR2 | c.419-38_419-37del (n.419-38_419-37del) c.350-38_350-37del (n.350-38_350-37del) | gnomAD v4 |
2 | g.202513681_202513682delinsTA | CA1321537280 | BMPR2 | c.419-38_419-37delinsTA (n.419-38_419-37delinsTA) c.350-38_350-37delinsTA (n.350-38_350-37delinsTA) | |
2 | g.202513682A= | CA1321537281 | BMPR2 | c.419-37A= (n.419-37A=) c.350-37A= (n.350-37A=) | |
2 | g.202513682A>T | CA2061119 | BMPR2 | c.419-37A>T (n.419-37A>T) c.350-37A>T (n.350-37A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513690dup | CA2061117 | BMPR2 | c.419-29dup (n.419-29dup) c.350-29dup (n.350-29dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513689_202513690dup | CA2662705360 | BMPR2 | c.419-30_419-29dup (n.419-30_419-29dup) c.350-30_350-29dup (n.350-30_350-29dup) | gnomAD v4 |
2 | g.202513690del | CA2061118 | BMPR2 | c.419-29del (n.419-29del) c.350-29del (n.350-29del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513684A= | CA1321537282 | BMPR2 | c.419-35A= (n.419-35A=) c.350-35A= (n.350-35A=) | |
2 | g.202513684A>G | CA538969738 | BMPR2 | c.419-35A>G (n.419-35A>G) c.350-35A>G (n.350-35A>G) | dbSNP gnomAD v2 |
2 | g.202513685A>G | CA2662705361 | BMPR2 | c.419-34A>G (n.419-34A>G) c.350-34A>G (n.350-34A>G) | gnomAD v4 |
2 | g.202513686A>C | CA2662705362 | BMPR2 | c.419-33A>C (n.419-33A>C) c.350-33A>C (n.350-33A>C) | gnomAD v4 |
2 | g.202513687A= | CA1321537283 | BMPR2 | c.419-32A= (n.419-32A=) c.350-32A= (n.350-32A=) | |
2 | g.202513687A>C | CA1321537284 | BMPR2 | c.419-32A>C (n.419-32A>C) c.350-32A>C (n.350-32A>C) | dbSNP |
2 | g.202513689_202513695dup | CA763444972 | BMPR2 | c.419-30_419-24dup (n.419-30_419-24dup) c.350-30_350-24dup (n.350-30_350-24dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202513689A= | CA1321537285 | BMPR2 | c.419-30A= (n.419-30A=) c.350-30A= (n.350-30A=) | |
2 | g.202513689A>G | CA2662705363 | BMPR2 | c.419-30A>G (n.419-30A>G) c.350-30A>G (n.350-30A>G) | gnomAD v4 |
2 | g.202513689A>T | CA2061120 | BMPR2 | c.419-30A>T (n.419-30A>T) c.350-30A>T (n.350-30A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202513690A= | CA1321537286 | BMPR2 | c.419-29A= (n.419-29A=) c.350-29A= (n.350-29A=) | |
2 | g.202513690A>G | CA538969739 | BMPR2 | c.419-29A>G (n.419-29A>G) c.350-29A>G (n.350-29A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513690A>T | CA2061121 | BMPR2 | c.419-29A>T (n.419-29A>T) c.350-29A>T (n.350-29A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202513691T>A | CA2061122 | BMPR2 | c.419-28T>A (n.419-28T>A) c.350-28T>A (n.350-28T>A) | dbSNP ExAC |
2 | g.202513691T= | CA1321537287 | BMPR2 | c.419-28T= (n.419-28T=) c.350-28T= (n.350-28T=) | |
2 | g.202513692G>T | CA2662705364 | BMPR2 | c.419-27G>T (n.419-27G>T) c.350-27G>T (n.350-27G>T) | gnomAD v4 |
2 | g.202513693A>G | CA2662705365 | BMPR2 | c.419-26A>G (n.419-26A>G) c.350-26A>G (n.350-26A>G) | gnomAD v4 |
2 | g.202513694C>A | CA2662705366 | BMPR2 | c.419-25C>A (n.419-25C>A) c.350-25C>A (n.350-25C>A) | gnomAD v4 |
2 | g.202513694C>T | CA2662705367 | BMPR2 | c.419-25C>T (n.419-25C>T) c.350-25C>T (n.350-25C>T) | gnomAD v4 |
2 | g.202513695A>G | CA2662705368 | BMPR2 | c.419-24A>G (n.419-24A>G) c.350-24A>G (n.350-24A>G) | gnomAD v4 |
2 | g.202513697T>C | CA2061123 | BMPR2 | c.419-22T>C (n.419-22T>C) c.350-22T>C (n.350-22T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513697T= | CA1321537288 | BMPR2 | c.419-22T= (n.419-22T=) c.350-22T= (n.350-22T=) | |
2 | g.202513699C>A | CA2662705369 | BMPR2 | c.419-20C>A (n.419-20C>A) c.350-20C>A (n.350-20C>A) | gnomAD v4 |
2 | g.202513699C>G | CA647681708 | BMPR2 | c.419-20C>G (n.419-20C>G) c.350-20C>G (n.350-20C>G) | gnomAD v4 COSMIC |
2 | g.202513700A= | CA1321537289 | BMPR2 | c.419-19A= (n.419-19A=) c.350-19A= (n.350-19A=) | |
2 | g.202513700A>G | CA64011945 | BMPR2 | c.419-19A>G (n.419-19A>G) c.350-19A>G (n.350-19A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202513701A= | CA1321537291 | BMPR2 | c.419-18A= (n.419-18A=) c.350-18A= (n.350-18A=) | |
2 | g.202513701A>G | CA1321537290 | BMPR2 | c.419-18A>G (n.419-18A>G) c.350-18A>G (n.350-18A>G) | dbSNP |
2 | g.202513702A>T | CA647681709 | BMPR2 | c.419-17A>T (n.419-17A>T) c.350-17A>T (n.350-17A>T) | COSMIC |
2 | g.202513705T>C | CA2740096415 | BMPR2 | c.419-14T>C (n.419-14T>C) c.350-14T>C (n.350-14T>C) | ClinVar |
2 | g.202513705T>G | CA2753905468 | BMPR2 | c.419-14T>G (n.419-14T>G) c.350-14T>G (n.350-14T>G) | |
2 | g.202513706T>C | CA1041339363 | BMPR2 | c.419-13T>C (n.419-13T>C) c.350-13T>C (n.350-13T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202513706T= | CA1321537292 | BMPR2 | c.419-13T= (n.419-13T=) c.350-13T= (n.350-13T=) | |
2 | g.202513707G= | CA1321537293 | BMPR2 | c.419-12G= (n.419-12G=) c.350-12G= (n.350-12G=) | |
2 | g.202513707G>T | CA2061124 | BMPR2 | c.419-12G>T (n.419-12G>T) c.350-12G>T (n.350-12G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202513709T>C | CA645293797 | BMPR2 | c.419-10T>C (n.419-10T>C) c.350-10T>C (n.350-10T>C) | ClinVar dbSNP |
2 | g.202513709T= | CA1321537294 | BMPR2 | c.419-10T= (n.419-10T=) c.350-10T= (n.350-10T=) | |
2 | g.202513711T>A | CA2662705370 | BMPR2 | c.419-8T>A (n.419-8T>A) c.350-8T>A (n.350-8T>A) | gnomAD v4 |
2 | g.202513712C>A | CA2061125 | BMPR2 | c.419-7C>A (n.419-7C>A) c.350-7C>A (n.350-7C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202513712C= | CA1321537295 | BMPR2 | c.419-7C= (n.419-7C=) c.350-7C= (n.350-7C=) | |
2 | g.202513712C>T | CA1321537296 | BMPR2 | c.419-7C>T (n.419-7C>T) c.350-7C>T (n.350-7C>T) | dbSNP gnomAD v4 |
2 | g.202513713T>C | CA2662705371 | BMPR2 | c.419-6T>C (n.419-6T>C) c.350-6T>C (n.350-6T>C) | gnomAD v4 |
2 | g.202513715T>C | CA1321537298 | BMPR2 | c.419-4T>C (n.419-4T>C) c.350-4T>C (n.350-4T>C) | dbSNP gnomAD v4 |
2 | g.202513715T= | CA1321537297 | BMPR2 | c.419-4T= (n.419-4T=) c.350-4T= (n.350-4T=) | |
2 | g.202513716T>C | CA1321537300 | BMPR2 | c.419-3T>C (n.419-3T>C) c.350-3T>C (n.350-3T>C) | dbSNP |
2 | g.202513716T= | CA1321537299 | BMPR2 | c.419-3T= (n.419-3T=) c.350-3T= (n.350-3T=) | |
2 | g.202513717A= | CA1321537301 | BMPR2 | c.419-2A= (n.419-2A=) c.350-2A= (n.350-2A=) | |
2 | g.202513717A>C | CA350337780 | BMPR2 | c.419-2A>C (n.419-2A>C) c.350-2A>C (n.350-2A>C) | |
2 | g.202513717A>G | CA350337784 | BMPR2 | c.419-2A>G (n.419-2A>G) c.350-2A>G (n.350-2A>G) | |
2 | g.202513717A>T | CA2061126 | BMPR2 | c.419-2A>T (n.419-2A>T) c.350-2A>T (n.350-2A>T) | dbSNP ExAC |
2 | g.202513718G>A | CA350337788 | BMPR2 | c.419-1G>A (n.419-1G>A) c.350-1G>A (n.350-1G>A) | |
2 | g.202513718G>C | CA350337792 | BMPR2 | c.419-1G>C (n.419-1G>C) c.350-1G>C (n.350-1G>C) | |
2 | g.202513718G>T | CA350337794 | BMPR2 | c.419-1G>T (n.419-1G>T) c.350-1G>T (n.350-1G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.202513719G>A | CA350337797 | BMPR2 | c.419G>A (p.Ser140Asn) c.350G>A (p.Ser117Asn) | |
2 | g.202513719G>C | CA350337799 | BMPR2 | c.419G>C (p.Ser140Thr) c.350G>C (p.Ser117Thr) | |
2 | g.202513719G= | CA1321537302 | BMPR2 | c.419G= (p.Ser140=) c.350G= (p.Ser117=) | |
2 | g.202513719G>T | CA350337802 | BMPR2 | c.419G>T (p.Ser140Ile) c.350G>T (p.Ser117Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.202513720T>A | CA350337805 | BMPR2 | c.420T>A (p.Ser140Arg) c.351T>A (p.Ser117Arg) | |
2 | g.202513720T>C | CA430838381 | BMPR2 | c.420T>C (p.Ser140=) c.351T>C (p.Ser117=) | |
2 | g.202513720T>G | CA350337807 | BMPR2 | c.420T>G (p.Ser140Arg) c.351T>G (p.Ser117Arg) | |
2 | g.202513720T= | CA1321537303 | BMPR2 | c.420T= (p.Ser140=) c.351T= (p.Ser117=) | |
2 | g.202513720_202513721insG | CA645293798 | BMPR2 | c.420_421insG (p.Pro141AlafsTer6) c.351_352insG (p.Pro118AlafsTer6) | ClinVar dbSNP |
2 | g.202513721C>A | CA350337810 | BMPR2 | c.421C>A (p.Pro141Thr) c.352C>A (p.Pro118Thr) | gnomAD v4 |
2 | g.202513721C>G | CA350337811 | BMPR2 | c.421C>G (p.Pro141Ala) c.352C>G (p.Pro118Ala) | |
2 | g.202513721C>T | CA350337814 | BMPR2 | c.421C>T (p.Pro141Ser) c.352C>T (p.Pro118Ser) | |
2 | g.202513722C>A | CA350337823 | BMPR2 | c.422C>A (p.Pro141Gln) c.353C>A (p.Pro118Gln) | |
2 | g.202513722C>G | CA350337820 | BMPR2 | c.422C>G (p.Pro141Arg) c.353C>G (p.Pro118Arg) | |
2 | g.202513722C>T | CA350337818 | BMPR2 | c.422C>T (p.Pro141Leu) c.353C>T (p.Pro118Leu) | gnomAD v4 COSMIC |
2 | g.202513723A>C | CA430838385 | BMPR2 | c.423A>C (p.Pro141=) c.354A>C (p.Pro118=) | |
2 | g.202513723A>G | CA430838384 | BMPR2 | c.423A>G (p.Pro141=) c.354A>G (p.Pro118=) | |
2 | g.202513723A>T | CA430838383 | BMPR2 | c.423A>T (p.Pro141=) c.354A>T (p.Pro118=) | |
2 | g.202513724C>A | CA350337826 | BMPR2 | c.424C>A (p.Pro142Thr) c.355C>A (p.Pro119Thr) | |
2 | g.202513724C= | CA1321537304 | BMPR2 | c.424C= (p.Pro142=) c.355C= (p.Pro119=) | |
2 | g.202513724C>G | CA350337829 | BMPR2 | c.424C>G (p.Pro142Ala) c.355C>G (p.Pro119Ala) | |
2 | g.202513724C>T | CA350337831 | BMPR2 | c.424C>T (p.Pro142Ser) c.355C>T (p.Pro119Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513725C>A | CA350337835 | BMPR2 | c.425C>A (p.Pro142His) c.356C>A (p.Pro119His) | |
2 | g.202513725C>G | CA350337838 | BMPR2 | c.425C>G (p.Pro142Arg) c.356C>G (p.Pro119Arg) | |
2 | g.202513725C>T | CA350337840 | BMPR2 | c.425C>T (p.Pro142Leu) c.356C>T (p.Pro119Leu) | |
2 | g.202513726T>A | CA430838388 | BMPR2 | c.426T>A (p.Pro142=) c.357T>A (p.Pro119=) | gnomAD v4 |
2 | g.202513726T>C | CA430838389 | BMPR2 | c.426T>C (p.Pro142=) c.357T>C (p.Pro119=) | |
2 | g.202513726T>G | CA430838390 | BMPR2 | c.426T>G (p.Pro142=) c.357T>G (p.Pro119=) | |
2 | g.202513727C>A | CA350337844 | BMPR2 | c.427C>A (p.His143Asn) c.358C>A (p.His120Asn) | |
2 | g.202513727C= | CA1321537305 | BMPR2 | c.427C= (p.His143=) c.358C= (p.His120=) | |
2 | g.202513727C>G | CA350337848 | BMPR2 | c.427C>G (p.His143Asp) c.358C>G (p.His120Asp) | dbSNP gnomAD v4 |
2 | g.202513727C>T | CA350337851 | BMPR2 | c.427C>T (p.His143Tyr) c.358C>T (p.His120Tyr) | |
2 | g.202513728A= | CA1321537306 | BMPR2 | c.428A= (p.His143=) c.359A= (p.His120=) | |
2 | g.202513728A>C | CA350337855 | BMPR2 | c.428A>C (p.His143Pro) c.359A>C (p.His120Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513728A>G | CA350337858 | BMPR2 | c.428A>G (p.His143Arg) c.359A>G (p.His120Arg) | gnomAD v4 |
2 | g.202513728A>T | CA350337860 | BMPR2 | c.428A>T (p.His143Leu) c.359A>T (p.His120Leu) | |
2 | g.202513729T>A | CA350337863 | BMPR2 | c.429T>A (p.His143Gln) c.360T>A (p.His120Gln) | |
2 | g.202513729T>C | CA430838391 | BMPR2 | c.429T>C (p.His143=) c.360T>C (p.His120=) | |
2 | g.202513729T>G | CA350337866 | BMPR2 | c.429T>G (p.His143Gln) c.360T>G (p.His120Gln) | |
2 | g.202513730T>A | CA350337870 | BMPR2 | c.430T>A (p.Ser144Thr) c.361T>A (p.Ser121Thr) | |
2 | g.202513730T>C | CA350337871 | BMPR2 | c.430T>C (p.Ser144Pro) c.361T>C (p.Ser121Pro) | |
2 | g.202513730T>G | CA350337873 | BMPR2 | c.430T>G (p.Ser144Ala) c.361T>G (p.Ser121Ala) | |
2 | g.202513731C>A | CA350337876 | BMPR2 | c.431C>A (p.Ser144Ter) c.362C>A (p.Ser121Ter) | gnomAD v4 |
2 | g.202513731C>G | CA350337878 | BMPR2 | c.431C>G (p.Ser144Ter) c.362C>G (p.Ser121Ter) | |
2 | g.202513731C>T | CA350337880 | BMPR2 | c.431C>T (p.Ser144Leu) c.362C>T (p.Ser121Leu) | dbSNP |
2 | g.202513732A>C | CA430838392 | BMPR2 | c.432A>C (p.Ser144=) c.363A>C (p.Ser121=) | |
2 | g.202513732A>G | CA430838393 | BMPR2 | c.432A>G (p.Ser144=) c.363A>G (p.Ser121=) | gnomAD v4 |
2 | g.202513732A>T | CA430838394 | BMPR2 | c.432A>T (p.Ser144=) c.363A>T (p.Ser121=) | |
2 | g.202513732_202513733delinsAT | CA1321537307 | BMPR2 | c.432_433delinsAT (p.Ser144=) c.363_364delinsAT (p.Ser121=) | |
2 | g.202513733T>A | CA350337888 | BMPR2 | c.433T>A (p.Phe145Ile) c.364T>A (p.Phe122Ile) | |
2 | g.202513733T>C | CA350337882 | BMPR2 | c.433T>C (p.Phe145Leu) c.364T>C (p.Phe122Leu) | |
2 | g.202513733T>G | CA350337885 | BMPR2 | c.433T>G (p.Phe145Val) c.364T>G (p.Phe122Val) | |
2 | g.202513735del | CA645293799 | BMPR2 | c.435del (p.Phe145LeufsTer7) c.366del (p.Phe122LeufsTer7) | ClinVar dbSNP |
2 | g.202513734T>A | CA350337891 | BMPR2 | c.434T>A (p.Phe145Tyr) c.365T>A (p.Phe122Tyr) | |
2 | g.202513734T>C | CA350337894 | BMPR2 | c.434T>C (p.Phe145Ser) c.365T>C (p.Phe122Ser) | |
2 | g.202513734T>G | CA350337895 | BMPR2 | c.434T>G (p.Phe145Cys) c.365T>G (p.Phe122Cys) | |
2 | g.202513735T>A | CA350337899 | BMPR2 | c.435T>A (p.Phe145Leu) c.366T>A (p.Phe122Leu) | |
2 | g.202513735T>C | CA430838395 | BMPR2 | c.435T>C (p.Phe145=) c.366T>C (p.Phe122=) | |
2 | g.202513735T>G | CA350337901 | BMPR2 | c.435T>G (p.Phe145Leu) c.366T>G (p.Phe122Leu) | |
2 | g.202513736A>C | CA350337904 | BMPR2 | c.436A>C (p.Asn146His) c.367A>C (p.Asn123His) | |
2 | g.202513736A>G | CA350337910 | BMPR2 | c.436A>G (p.Asn146Asp) c.367A>G (p.Asn123Asp) | |
2 | g.202513736A>T | CA350337907 | BMPR2 | c.436A>T (p.Asn146Tyr) c.367A>T (p.Asn123Tyr) | |
2 | g.202513737A>C | CA350337913 | BMPR2 | c.437A>C (p.Asn146Thr) c.368A>C (p.Asn123Thr) | |
2 | g.202513737A>G | CA350337916 | BMPR2 | c.437A>G (p.Asn146Ser) c.368A>G (p.Asn123Ser) | |
2 | g.202513737A>T | CA350337919 | BMPR2 | c.437A>T (p.Asn146Ile) c.368A>T (p.Asn123Ile) | |
2 | g.202513738C>A | CA350337922 | BMPR2 | c.438C>A (p.Asn146Lys) c.369C>A (p.Asn123Lys) | |
2 | g.202513738C= | CA1321537308 | BMPR2 | c.438C= (p.Asn146=) c.369C= (p.Asn123=) | |
2 | g.202513738C>G | CA350337927 | BMPR2 | c.438C>G (p.Asn146Lys) c.369C>G (p.Asn123Lys) | |
2 | g.202513738C>T | CA2061127 | BMPR2 | c.438C>T (p.Asn146=) c.369C>T (p.Asn123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513739C>A | CA430838396 | BMPR2 | c.439C>A (p.Arg147=) c.370C>A (p.Arg124=) | |
2 | g.202513739C= | CA1321537309 | BMPR2 | c.439C= (p.Arg147=) c.370C= (p.Arg124=) | |
2 | g.202513739C>G | CA350337930 | BMPR2 | c.439C>G (p.Arg147Gly) c.370C>G (p.Arg124Gly) | gnomAD v4 |
2 | g.202513739C>T | CA351778 | BMPR2 | c.439C>T (p.Arg147Ter) c.370C>T (p.Arg124Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.202513740G>A | CA2061128 | BMPR2 | c.440G>A (p.Arg147Gln) c.371G>A (p.Arg124Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.202513740G>C | CA350337936 | BMPR2 | c.440G>C (p.Arg147Pro) c.371G>C (p.Arg124Pro) | gnomAD v4 |
2 | g.202513740G= | CA1321537310 | BMPR2 | c.440G= (p.Arg147=) c.371G= (p.Arg124=) | |
2 | g.202513740G>T | CA350337938 | BMPR2 | c.440G>T (p.Arg147Leu) c.371G>T (p.Arg124Leu) | gnomAD v4 |
2 | g.202513741A= | CA1321537311 | BMPR2 | c.441A= (p.Arg147=) c.372A= (p.Arg124=) | |
2 | g.202513741A>C | CA430838397 | BMPR2 | c.441A>C (p.Arg147=) c.372A>C (p.Arg124=) | |
2 | g.202513741A>G | CA430838398 | BMPR2 | c.441A>G (p.Arg147=) c.372A>G (p.Arg124=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513741A>T | CA430838399 | BMPR2 | c.441A>T (p.Arg147=) c.372A>T (p.Arg124=) | dbSNP gnomAD v4 |
2 | g.202513742G>A | CA350337944 | BMPR2 | c.442G>A (p.Asp148Asn) c.373G>A (p.Asp125Asn) | |
2 | g.202513742G>C | CA350337947 | BMPR2 | c.442G>C (p.Asp148His) c.373G>C (p.Asp125His) | |
2 | g.202513742G>T | CA350337942 | BMPR2 | c.442G>T (p.Asp148Tyr) c.373G>T (p.Asp125Tyr) | |
2 | g.202513742_202513743delinsGA | CA1321537312 | BMPR2 | c.442_443delinsGA (p.Asp148=) c.373_374delinsGA (p.Asp125=) | |
2 | g.202513743del | CA916082274 | BMPR2 | c.443del (p.Asp148ValfsTer4) c.374del (p.Asp125ValfsTer4) | ClinVar dbSNP |
2 | g.202513743A>C | CA350337955 | BMPR2 | c.443A>C (p.Asp148Ala) c.374A>C (p.Asp125Ala) | |
2 | g.202513743A>G | CA350337950 | BMPR2 | c.443A>G (p.Asp148Gly) c.374A>G (p.Asp125Gly) | |
2 | g.202513743A>T | CA350337952 | BMPR2 | c.443A>T (p.Asp148Val) c.374A>T (p.Asp125Val) | |
2 | g.202513744T>A | CA350337958 | BMPR2 | c.444T>A (p.Asp148Glu) c.375T>A (p.Asp125Glu) | |
2 | g.202513744T>C | CA430838400 | BMPR2 | c.444T>C (p.Asp148=) c.375T>C (p.Asp125=) | |
2 | g.202513744T>G | CA350337961 | BMPR2 | c.444T>G (p.Asp148Glu) c.375T>G (p.Asp125Glu) | gnomAD v4 |
2 | g.202513745G>A | CA2061129 | BMPR2 | c.445G>A (p.Glu149Lys) c.376G>A (p.Glu126Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202513745G>C | CA350337967 | BMPR2 | c.445G>C (p.Glu149Gln) c.376G>C (p.Glu126Gln) | |
2 | g.202513745G= | CA1321537313 | BMPR2 | c.445G= (p.Glu149=) c.376G= (p.Glu126=) | |
2 | g.202513745G>T | CA350337969 | BMPR2 | c.445G>T (p.Glu149Ter) c.376G>T (p.Glu126Ter) | |
2 | g.202513746A>C | CA350337977 | BMPR2 | c.446A>C (p.Glu149Ala) c.377A>C (p.Glu126Ala) | |
2 | g.202513746A>G | CA350337972 | BMPR2 | c.446A>G (p.Glu149Gly) c.377A>G (p.Glu126Gly) | gnomAD v4 |
2 | g.202513746A>T | CA350337975 | BMPR2 | c.446A>T (p.Glu149Val) c.377A>T (p.Glu126Val) | |
2 | g.202513747G>A | CA430838401 | BMPR2 | c.447G>A (p.Glu149=) c.378G>A (p.Glu126=) | dbSNP |
2 | g.202513747G>C | CA350337981 | BMPR2 | c.447G>C (p.Glu149Asp) c.378G>C (p.Glu126Asp) | |
2 | g.202513747G= | CA1321537314 | BMPR2 | c.447G= (p.Glu149=) c.378G= (p.Glu126=) | |
2 | g.202513747G>T | CA350337983 | BMPR2 | c.447G>T (p.Glu149Asp) c.378G>T (p.Glu126Asp) | |
2 | g.202513748A= | CA1321537315 | BMPR2 | c.448A= (p.Thr150=) c.379A= (p.Thr127=) | |
2 | g.202513748A>C | CA350337986 | BMPR2 | c.448A>C (p.Thr150Pro) c.379A>C (p.Thr127Pro) | |
2 | g.202513748A>G | CA350337988 | BMPR2 | c.448A>G (p.Thr150Ala) c.379A>G (p.Thr127Ala) | |
2 | g.202513748A>T | CA350337991 | BMPR2 | c.448A>T (p.Thr150Ser) c.379A>T (p.Thr127Ser) | |
2 | g.202513749C>A | CA350337995 | BMPR2 | c.449C>A (p.Thr150Lys) c.380C>A (p.Thr127Lys) | |
2 | g.202513749C= | CA1321537316 | BMPR2 | c.449C= (p.Thr150=) c.380C= (p.Thr127=) | |
2 | g.202513749C>G | CA350338000 | BMPR2 | c.449C>G (p.Thr150Arg) c.380C>G (p.Thr127Arg) | |
2 | g.202513749C>T | CA350337997 | BMPR2 | c.449C>T (p.Thr150Ile) c.380C>T (p.Thr127Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202513749dup | CA645293800 | BMPR2 | c.449dup (p.Ile151AsnfsTer30) c.380dup (p.Ile128AsnfsTer30) | ClinVar dbSNP |
2 | g.202513750A= | CA1321537317 | BMPR2 | c.450A= (p.Thr150=) c.381A= (p.Thr127=) | |
2 | g.202513750A>C | CA430838402 | BMPR2 | c.450A>C (p.Thr150=) c.381A>C (p.Thr127=) | |
2 | g.202513750A>G | CA430838403 | BMPR2 | c.450A>G (p.Thr150=) c.381A>G (p.Thr127=) | dbSNP gnomAD v4 |
2 | g.202513750A>T | CA430838404 | BMPR2 | c.450A>T (p.Thr150=) c.381A>T (p.Thr127=) | |
2 | g.202513751del | CA2586970997 | BMPR2 | c.451del (p.Ile151Ter) c.382del (p.Ile128Ter) | |
2 | g.202513751A>C | CA350338003 | BMPR2 | c.451A>C (p.Ile151Leu) c.382A>C (p.Ile128Leu) | |
2 | g.202513751A>G | CA350338004 | BMPR2 | c.451A>G (p.Ile151Val) c.382A>G (p.Ile128Val) | |
2 | g.202513751A>T | CA350338005 | BMPR2 | c.451A>T (p.Ile151Leu) c.382A>T (p.Ile128Leu) | |
2 | g.202513752_202513753del | CA2586970998 | BMPR2 | c.452_453del (p.Ile151AsnfsTer29) c.383_384del (p.Ile128AsnfsTer29) | |
2 | g.202513752T>A | CA350338010 | BMPR2 | c.452T>A (p.Ile151Lys) c.383T>A (p.Ile128Lys) | |
2 | g.202513752T>C | CA64012002 | BMPR2 | c.452T>C (p.Ile151Thr) c.383T>C (p.Ile128Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202513752T>G | CA350338013 | BMPR2 | c.452T>G (p.Ile151Arg) c.383T>G (p.Ile128Arg) | |
2 | g.202513752T= | CA1321537318 | BMPR2 | c.452T= (p.Ile151=) c.383T= (p.Ile128=) | |
2 | g.202513753A= | CA1321537319 | BMPR2 | c.453A= (p.Ile151=) c.384A= (p.Ile128=) | |
2 | g.202513753A>C | CA64012007 | BMPR2 | c.453A>C (p.Ile151=) c.384A>C (p.Ile128=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202513753A>G | CA350338019 | BMPR2 | c.453A>G (p.Ile151Met) c.384A>G (p.Ile128Met) | |
2 | g.202513753A>T | CA430838405 | BMPR2 | c.453A>T (p.Ile151=) c.384A>T (p.Ile128=) | |
2 | g.202513754A>C | CA350338023 | BMPR2 | c.454A>C (p.Ile152Leu) c.385A>C (p.Ile129Leu) | |
2 | g.202513754A>G | CA350338027 | BMPR2 | c.454A>G (p.Ile152Val) c.385A>G (p.Ile129Val) | gnomAD v4 |
2 | g.202513754A>T | CA350338029 | BMPR2 | c.454A>T (p.Ile152Phe) c.385A>T (p.Ile129Phe) | |
2 | g.202513755T>A | CA350338031 | BMPR2 | c.455T>A (p.Ile152Asn) c.386T>A (p.Ile129Asn) | |
2 | g.202513755T>C | CA350338036 | BMPR2 | c.455T>C (p.Ile152Thr) c.386T>C (p.Ile129Thr) | |
2 | g.202513755T>G | CA350338032 | BMPR2 | c.455T>G (p.Ile152Ser) c.386T>G (p.Ile129Ser) | |
2 | g.202513756C>A | CA430838407 | BMPR2 | c.456C>A (p.Ile152=) c.387C>A (p.Ile129=) | |
2 | g.202513756C>G | CA350338042 | BMPR2 | c.456C>G (p.Ile152Met) c.387C>G (p.Ile129Met) | |
2 | g.202513756C>T | CA430838409 | BMPR2 | c.456C>T (p.Ile152=) c.387C>T (p.Ile129=) |