X | g.50910735_50916641del | CA1139667543 | BMP15 | c.-49_*34del
| ClinVar |
X | g.50916067del | CA329809793 | BMP15 | c.639del (p.Asp214IlefsTer?)
| dbSNP |
X | g.50916066A>C | CA413198348 | BMP15 | c.638A>C (p.Lys213Thr)
| |
X | g.50916066A>G | CA413198349 | BMP15 | c.638A>G (p.Lys213Arg)
| |
X | g.50916066A>T | CA413198347 | BMP15 | c.638A>T (p.Lys213Ile)
| |
X | g.50916067A>C | CA413198350 | BMP15 | c.639A>C (p.Lys213Asn)
| |
X | g.50916067A>G | CA516680953 | BMP15 | c.639A>G (p.Lys213=)
| |
X | g.50916067A>T | CA413198351 | BMP15 | c.639A>T (p.Lys213Asn)
| |
X | g.50916068del | CA2693751510 | BMP15 | c.640del (p.Asp214IlefsTer?)
| gnomAD v4 |
X | g.50916068G>A | CA413198352 | BMP15 | c.640G>A (p.Asp214Asn)
| |
X | g.50916068G>C | CA413198353 | BMP15 | c.640G>C (p.Asp214His)
| dbSNP |
X | g.50916068G= | CA2429025833 | BMP15 | c.640G= (p.Asp214=)
| |
X | g.50916068G>T | CA413198354 | BMP15 | c.640G>T (p.Asp214Tyr)
| COSMIC |
X | g.50916069A>C | CA413198355 | BMP15 | c.641A>C (p.Asp214Ala)
| |
X | g.50916069A>G | CA413198356 | BMP15 | c.641A>G (p.Asp214Gly)
| |
X | g.50916069A>T | CA413198357 | BMP15 | c.641A>T (p.Asp214Val)
| gnomAD v4 |
X | g.50916070T>A | CA413198358 | BMP15 | c.642T>A (p.Asp214Glu)
| |
X | g.50916070T>C | CA516680961 | BMP15 | c.642T>C (p.Asp214=)
| |
X | g.50916070T>G | CA413198359 | BMP15 | c.642T>G (p.Asp214Glu)
| |
X | g.50916071A>C | CA413198360 | BMP15 | c.643A>C (p.Ser215Arg)
| |
X | g.50916071A>G | CA413198361 | BMP15 | c.643A>G (p.Ser215Gly)
| |
X | g.50916071A>T | CA413198362 | BMP15 | c.643A>T (p.Ser215Cys)
| |
X | g.50916072G>A | CA413198365 | BMP15 | c.644G>A (p.Ser215Asn)
| gnomAD v4 |
X | g.50916072G>C | CA413198363 | BMP15 | c.644G>C (p.Ser215Thr)
| gnomAD v4 |
X | g.50916072G>T | CA413198364 | BMP15 | c.644G>T (p.Ser215Ile)
| |
X | g.50916073T>A | CA413198366 | BMP15 | c.645T>A (p.Ser215Arg)
| |
X | g.50916073T>C | CA516680967 | BMP15 | c.645T>C (p.Ser215=)
| gnomAD v4 |
X | g.50916073T>G | CA413198367 | BMP15 | c.645T>G (p.Ser215Arg)
| |
X | g.50916074G>A | CA413198368 | BMP15 | c.646G>A (p.Gly216Ser)
| dbSNP |
X | g.50916074G>C | CA413198369 | BMP15 | c.646G>C (p.Gly216Arg)
| |
X | g.50916074G= | CA2429025834 | BMP15 | c.646G= (p.Gly216=)
| |
X | g.50916074G>T | CA413198370 | BMP15 | c.646G>T (p.Gly216Cys)
| |
X | g.50916074_50916075insA | CA2505997004 | BMP15 | c.646_647insA (p.Gly216GlufsTer4)
| |
X | g.50916075G>A | CA10416579 | BMP15 | c.647G>A (p.Gly216Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50916075G>C | CA413198371 | BMP15 | c.647G>C (p.Gly216Ala)
| |
X | g.50916075G= | CA2429025835 | BMP15 | c.647G= (p.Gly216=)
| |
X | g.50916075G>T | CA413198372 | BMP15 | c.647G>T (p.Gly216Val)
| COSMIC |
X | g.50916075_50916076insA | CA2560444074 | BMP15 | c.647_648insA (p.Gly217TrpfsTer3)
| |
X | g.50916076T>A | CA516680975 | BMP15 | c.648T>A (p.Gly216=)
| |
X | g.50916076T>C | CA516680974 | BMP15 | c.648T>C (p.Gly216=)
| |
X | g.50916076T>G | CA516680973 | BMP15 | c.648T>G (p.Gly216=)
| |
X | g.50916077G>A | CA10416580 | BMP15 | c.649G>A (p.Gly217Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50916077G>C | CA413198373 | BMP15 | c.649G>C (p.Gly217Arg)
| gnomAD v4 |
X | g.50916077G= | CA2429025836 | BMP15 | c.649G= (p.Gly217=)
| |
X | g.50916077G>T | CA413198374 | BMP15 | c.649G>T (p.Gly217Cys)
| COSMIC |
X | g.50916077_50916078del | CA2550810081 | BMP15 | c.649_650del (p.Gly217SerfsTer2)
| |
X | g.50916078G>A | CA10416581 | BMP15 | c.650G>A (p.Gly217Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50916078G>C | CA413198376 | BMP15 | c.650G>C (p.Gly217Ala)
| |
X | g.50916078G= | CA2429025837 | BMP15 | c.650G= (p.Gly217=)
| |
X | g.50916078G>T | CA413198375 | BMP15 | c.650G>T (p.Gly217Val)
| |
X | g.50916079T>A | CA516680983 | BMP15 | c.651T>A (p.Gly217=)
| |
X | g.50916079T>C | CA516680984 | BMP15 | c.651T>C (p.Gly217=)
| |
X | g.50916079T>G | CA516680985 | BMP15 | c.651T>G (p.Gly217=)
| |
X | g.50916080C>A | CA413198377 | BMP15 | c.652C>A (p.Leu218Ile)
| |
X | g.50916080C= | CA2429025838 | BMP15 | c.652C= (p.Leu218=)
| |
X | g.50916080C>G | CA413198378 | BMP15 | c.652C>G (p.Leu218Val)
| |
X | g.50916080C>T | CA10416582 | BMP15 | c.652C>T (p.Leu218Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50916081T>A | CA413198379 | BMP15 | c.653T>A (p.Leu218His)
| |
X | g.50916081T>C | CA413198380 | BMP15 | c.653T>C (p.Leu218Pro)
| |
X | g.50916081T>G | CA413198381 | BMP15 | c.653T>G (p.Leu218Arg)
| |
X | g.50916082T>A | CA516680993 | BMP15 | c.654T>A (p.Leu218=)
| |
X | g.50916082T>C | CA516680995 | BMP15 | c.654T>C (p.Leu218=)
| |
X | g.50916082T>G | CA516680994 | BMP15 | c.654T>G (p.Leu218=)
| |
X | g.50916083G>A | CA413198384 | BMP15 | c.655G>A (p.Glu219Lys)
| |
X | g.50916083G>C | CA413198382 | BMP15 | c.655G>C (p.Glu219Gln)
| gnomAD v4 |
X | g.50916083G>T | CA413198383 | BMP15 | c.655G>T (p.Glu219Ter)
| |
X | g.50916084A>C | CA413198385 | BMP15 | c.656A>C (p.Glu219Ala)
| |
X | g.50916084A>G | CA413198386 | BMP15 | c.656A>G (p.Glu219Gly)
| |
X | g.50916084A>T | CA413198387 | BMP15 | c.656A>T (p.Glu219Val)
| |
X | g.50916085G>A | CA516680999 | BMP15 | c.657G>A (p.Glu219=)
| |
X | g.50916085G>C | CA413198388 | BMP15 | c.657G>C (p.Glu219Asp)
| gnomAD v4 |
X | g.50916085G>T | CA413198389 | BMP15 | c.657G>T (p.Glu219Asp)
| |
X | g.50916086C>A | CA413198392 | BMP15 | c.658C>A (p.Leu220Ile)
| |
X | g.50916086C>G | CA413198390 | BMP15 | c.658C>G (p.Leu220Val)
| |
X | g.50916086C>T | CA413198391 | BMP15 | c.658C>T (p.Leu220Phe)
| |
X | g.50916087T>A | CA413198393 | BMP15 | c.659T>A (p.Leu220His)
| |
X | g.50916087T>C | CA413198394 | BMP15 | c.659T>C (p.Leu220Pro)
| |
X | g.50916087T>G | CA413198395 | BMP15 | c.659T>G (p.Leu220Arg)
| |
X | g.50916088C>A | CA516681003 | BMP15 | c.660C>A (p.Leu220=)
| |
X | g.50916088C>G | CA516681005 | BMP15 | c.660C>G (p.Leu220=)
| |
X | g.50916088C>T | CA516681006 | BMP15 | c.660C>T (p.Leu220=)
| |
X | g.50916088_50916089insCGG | CA2532001857 | BMP15 | c.660_661insCGG (p.Leu220_Trp221insArg)
| |
X | g.50916089T>A | CA413198396 | BMP15 | c.661T>A (p.Trp221Arg)
| |
X | g.50916089T>C | CA10416583 | BMP15 | c.661T>C (p.Trp221Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50916089T>G | CA10416584 | BMP15 | c.661T>G (p.Trp221Gly)
| dbSNP ExAC gnomAD v2 |
X | g.50916089T= | CA2429025839 | BMP15 | c.661T= (p.Trp221=)
| |
X | g.50916090G>A | CA413198397 | BMP15 | c.662G>A (p.Trp221Ter)
| |
X | g.50916090G>C | CA413198398 | BMP15 | c.662G>C (p.Trp221Ser)
| |
X | g.50916090G>T | CA413198399 | BMP15 | c.662G>T (p.Trp221Leu)
| |
X | g.50916091G>A | CA413198400 | BMP15 | c.663G>A (p.Trp221Ter)
| |
X | g.50916091G>C | CA413198401 | BMP15 | c.663G>C (p.Trp221Cys)
| |
X | g.50916091G>T | CA413198402 | BMP15 | c.663G>T (p.Trp221Cys)
| |
X | g.50916092C>A | CA413198403 | BMP15 | c.664C>A (p.His222Asn)
| |
X | g.50916092C>G | CA413198405 | BMP15 | c.664C>G (p.His222Asp)
| |
X | g.50916092C>T | CA413198404 | BMP15 | c.664C>T (p.His222Tyr)
| |
X | g.50916093A>C | CA413198406 | BMP15 | c.665A>C (p.His222Pro)
| |
X | g.50916093A>G | CA413198407 | BMP15 | c.665A>G (p.His222Arg)
| |
X | g.50916093A>T | CA413198408 | BMP15 | c.665A>T (p.His222Leu)
| |
X | g.50916094T>A | CA413198409 | BMP15 | c.666T>A (p.His222Gln)
| |
X | g.50916094T>C | CA516681014 | BMP15 | c.666T>C (p.His222=)
| dbSNP gnomAD v4 |
X | g.50916094T>G | CA413198410 | BMP15 | c.666T>G (p.His222Gln)
| |
X | g.50916094T= | CA2429025840 | BMP15 | c.666T= (p.His222=)
| |
X | g.50916095G>A | CA10416585 | BMP15 | c.667G>A (p.Gly223Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50916095G>C | CA413198411 | BMP15 | c.667G>C (p.Gly223Arg)
| |
X | g.50916095G= | CA2429025841 | BMP15 | c.667G= (p.Gly223=)
| |
X | g.50916095G>T | CA413198412 | BMP15 | c.667G>T (p.Gly223Cys)
| |
X | g.50916096G>A | CA413198413 | BMP15 | c.668G>A (p.Gly223Asp)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.50916096G>C | CA413198414 | BMP15 | c.668G>C (p.Gly223Ala)
| |
X | g.50916096G= | CA2429025842 | BMP15 | c.668G= (p.Gly223=)
| |
X | g.50916096G>T | CA413198415 | BMP15 | c.668G>T (p.Gly223Val)
| |
X | g.50916097C>A | CA516681018 | BMP15 | c.669C>A (p.Gly223=)
| gnomAD v4 |
X | g.50916097C= | CA2429025843 | BMP15 | c.669C= (p.Gly223=)
| |
X | g.50916097C>G | CA516681019 | BMP15 | c.669C>G (p.Gly223=)
| |
X | g.50916097C>T | CA10416586 | BMP15 | c.669C>T (p.Gly223=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50916098A>C | CA413198418 | BMP15 | c.670A>C (p.Thr224Pro)
| |
X | g.50916098A>G | CA413198416 | BMP15 | c.670A>G (p.Thr224Ala)
| |
X | g.50916098A>T | CA413198417 | BMP15 | c.670A>T (p.Thr224Ser)
| |
X | g.50916099C>A | CA413198419 | BMP15 | c.671C>A (p.Thr224Asn)
| |
X | g.50916099C>G | CA413198420 | BMP15 | c.671C>G (p.Thr224Ser)
| |
X | g.50916099C>T | CA413198421 | BMP15 | c.671C>T (p.Thr224Ile)
| |
X | g.50916100T>A | CA516681027 | BMP15 | c.672T>A (p.Thr224=)
| |
X | g.50916100T>C | CA516681028 | BMP15 | c.672T>C (p.Thr224=)
| |
X | g.50916100T>G | CA516681029 | BMP15 | c.672T>G (p.Thr224=)
| |
X | g.50916101T>A | CA413198422 | BMP15 | c.673T>A (p.Ser225Thr)
| |
X | g.50916101T>C | CA413198423 | BMP15 | c.673T>C (p.Ser225Pro)
| |
X | g.50916101T>G | CA413198424 | BMP15 | c.673T>G (p.Ser225Ala)
| |
X | g.50916102C>A | CA413198425 | BMP15 | c.674C>A (p.Ser225Ter)
| |
X | g.50916102C>G | CA413198426 | BMP15 | c.674C>G (p.Ser225Ter)
| |
X | g.50916102C>T | CA413198427 | BMP15 | c.674C>T (p.Ser225Leu)
| COSMIC |
X | g.50916103A= | CA2429025844 | BMP15 | c.675A= (p.Ser225=)
| |
X | g.50916103A>C | CA516681034 | BMP15 | c.675A>C (p.Ser225=)
| |
X | g.50916103A>G | CA516681038 | BMP15 | c.675A>G (p.Ser225=)
| dbSNP gnomAD v2 |
X | g.50916103A>T | CA516681036 | BMP15 | c.675A>T (p.Ser225=)
| |
X | g.50916104T>A | CA413198428 | BMP15 | c.676T>A (p.Ser226Thr)
| |
X | g.50916104T>C | CA413198429 | BMP15 | c.676T>C (p.Ser226Pro)
| dbSNP |
X | g.50916104T>G | CA413198430 | BMP15 | c.676T>G (p.Ser226Ala)
| |
X | g.50916104T= | CA2429025845 | BMP15 | c.676T= (p.Ser226=)
| |
X | g.50916105C>A | CA413198432 | BMP15 | c.677C>A (p.Ser226Tyr)
| |
X | g.50916105C= | CA2429025846 | BMP15 | c.677C= (p.Ser226=)
| |
X | g.50916105C>G | CA413198433 | BMP15 | c.677C>G (p.Ser226Cys)
| |
X | g.50916105C>T | CA413198431 | BMP15 | c.677C>T (p.Ser226Phe)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.50916106C>A | CA516681048 | BMP15 | c.678C>A (p.Ser226=)
| COSMIC |
X | g.50916106C>G | CA516681050 | BMP15 | c.678C>G (p.Ser226=)
| |
X | g.50916106C>T | CA516681051 | BMP15 | c.678C>T (p.Ser226=)
| gnomAD v4 |
X | g.50916107T>A | CA413198435 | BMP15 | c.679T>A (p.Leu227Met)
| |
X | g.50916107T>C | CA516681055 | BMP15 | c.679T>C (p.Leu227=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.50916107T>G | CA413198434 | BMP15 | c.679T>G (p.Leu227Val)
| |
X | g.50916107T= | CA2429025847 | BMP15 | c.679T= (p.Leu227=)
| |
X | g.50916108T>A | CA413198437 | BMP15 | c.680T>A (p.Leu227Ter)
| |
X | g.50916108T>C | CA413198436 | BMP15 | c.680T>C (p.Leu227Ser)
| gnomAD v4 |
X | g.50916108T>G | CA413198438 | BMP15 | c.680T>G (p.Leu227Trp)
| |
X | g.50916109G>A | CA516681060 | BMP15 | c.681G>A (p.Leu227=)
| gnomAD v4 |
X | g.50916109G>C | CA413198439 | BMP15 | c.681G>C (p.Leu227Phe)
| COSMIC |
X | g.50916109G>T | CA413198440 | BMP15 | c.681G>T (p.Leu227Phe)
| |
X | g.50916110G>A | CA413198441 | BMP15 | c.682G>A (p.Asp228Asn)
| |
X | g.50916110G>C | CA413198442 | BMP15 | c.682G>C (p.Asp228His)
| |
X | g.50916110G>T | CA413198443 | BMP15 | c.682G>T (p.Asp228Tyr)
| |
X | g.50916111A>C | CA413198444 | BMP15 | c.683A>C (p.Asp228Ala)
| |
X | g.50916111A>G | CA413198445 | BMP15 | c.683A>G (p.Asp228Gly)
| gnomAD v4 |
X | g.50916111A>T | CA413198446 | BMP15 | c.683A>T (p.Asp228Val)
| |
X | g.50916112C>A | CA413198447 | BMP15 | c.684C>A (p.Asp228Glu)
| |
X | g.50916112C>G | CA413198448 | BMP15 | c.684C>G (p.Asp228Glu)
| |
X | g.50916112C>T | CA516681068 | BMP15 | c.684C>T (p.Asp228=)
| gnomAD v4 |
X | g.50916113A>C | CA413198449 | BMP15 | c.685A>C (p.Ile229Leu)
| gnomAD v4 |
X | g.50916113A>G | CA413198450 | BMP15 | c.685A>G (p.Ile229Val)
| |
X | g.50916113A>T | CA413198451 | BMP15 | c.685A>T (p.Ile229Phe)
| |
X | g.50916114T>A | CA413198452 | BMP15 | c.686T>A (p.Ile229Asn)
| |
X | g.50916114T>C | CA413198454 | BMP15 | c.686T>C (p.Ile229Thr)
| dbSNP gnomAD v4 |
X | g.50916114T>G | CA413198453 | BMP15 | c.686T>G (p.Ile229Ser)
| |
X | g.50916114T= | CA2429025848 | BMP15 | c.686T= (p.Ile229=)
| |
X | g.50916115T>A | CA516681076 | BMP15 | c.687T>A (p.Ile229=)
| gnomAD v4 |
X | g.50916115T>C | CA516681077 | BMP15 | c.687T>C (p.Ile229=)
| |
X | g.50916115T>G | CA413198455 | BMP15 | c.687T>G (p.Ile229Met)
| |
X | g.50916116G>A | CA10416587 | BMP15 | c.688G>A (p.Ala230Thr)
| dbSNP ExAC gnomAD v4 |
X | g.50916116G>C | CA413198456 | BMP15 | c.688G>C (p.Ala230Pro)
| |
X | g.50916116G= | CA2429025849 | BMP15 | c.688G= (p.Ala230=)
| |
X | g.50916116G>T | CA413198457 | BMP15 | c.688G>T (p.Ala230Ser)
| |
X | g.50916117C>A | CA413198458 | BMP15 | c.689C>A (p.Ala230Asp)
| |
X | g.50916117C>G | CA413198459 | BMP15 | c.689C>G (p.Ala230Gly)
| |
X | g.50916117C>T | CA413198460 | BMP15 | c.689C>T (p.Ala230Val)
| |
X | g.50916118C>A | CA516681082 | BMP15 | c.690C>A (p.Ala230=)
| |
X | g.50916118C>G | CA516681085 | BMP15 | c.690C>G (p.Ala230=)
| |
X | g.50916118C>T | CA516681087 | BMP15 | c.690C>T (p.Ala230=)
| |
X | g.50916119T>A | CA413198461 | BMP15 | c.691T>A (p.Phe231Ile)
| |
X | g.50916119T>C | CA413198462 | BMP15 | c.691T>C (p.Phe231Leu)
| |
X | g.50916119T>G | CA413198463 | BMP15 | c.691T>G (p.Phe231Val)
| |
X | g.50916120T>A | CA413198466 | BMP15 | c.692T>A (p.Phe231Tyr)
| |
X | g.50916120T>C | CA413198465 | BMP15 | c.692T>C (p.Phe231Ser)
| |
X | g.50916120T>G | CA413198464 | BMP15 | c.692T>G (p.Phe231Cys)
| |
X | g.50916121C>A | CA413198467 | BMP15 | c.693C>A (p.Phe231Leu)
| |
X | g.50916121C>G | CA413198468 | BMP15 | c.693C>G (p.Phe231Leu)
| |
X | g.50916121C>T | CA516681099 | BMP15 | c.693C>T (p.Phe231=)
| gnomAD v4 |
X | g.50916122T>A | CA413198469 | BMP15 | c.694T>A (p.Leu232Met)
| |
X | g.50916122T>C | CA516681100 | BMP15 | c.694T>C (p.Leu232=)
| dbSNP gnomAD v4 |
X | g.50916122T>G | CA413198470 | BMP15 | c.694T>G (p.Leu232Val)
| |
X | g.50916122T= | CA2429025850 | BMP15 | c.694T= (p.Leu232=)
| |
X | g.50916123T>A | CA413198471 | BMP15 | c.695T>A (p.Leu232Ter)
| |
X | g.50916123T>C | CA413198472 | BMP15 | c.695T>C (p.Leu232Ser)
| |
X | g.50916123T>G | CA413198473 | BMP15 | c.695T>G (p.Leu232Trp)
| |
X | g.50916124G>A | CA516681104 | BMP15 | c.696G>A (p.Leu232=)
| |
X | g.50916124G>C | CA413198474 | BMP15 | c.696G>C (p.Leu232Phe)
| |
X | g.50916124G>T | CA413198475 | BMP15 | c.696G>T (p.Leu232Phe)
| |
X | g.50916125T>A | CA413198476 | BMP15 | c.697T>A (p.Leu233Ile)
| |
X | g.50916125T>C | CA516681107 | BMP15 | c.697T>C (p.Leu233=)
| |
X | g.50916125T>G | CA413198477 | BMP15 | c.697T>G (p.Leu233Val)
| |
X | g.50916126T>A | CA413198478 | BMP15 | c.698T>A (p.Leu233Ter)
| |
X | g.50916126T>C | CA413198479 | BMP15 | c.698T>C (p.Leu233Ser)
| |
X | g.50916126T>G | CA413198480 | BMP15 | c.698T>G (p.Leu233Ter)
| |
X | g.50916127A>C | CA413198481 | BMP15 | c.699A>C (p.Leu233Phe)
| |
X | g.50916127A>G | CA516681110 | BMP15 | c.699A>G (p.Leu233=)
| |
X | g.50916127A>T | CA413198482 | BMP15 | c.699A>T (p.Leu233Phe)
| |
X | g.50916128C>A | CA413198483 | BMP15 | c.700C>A (p.Leu234Ile)
| |
X | g.50916128C>G | CA413198484 | BMP15 | c.700C>G (p.Leu234Val)
| |
X | g.50916128C>T | CA413198485 | BMP15 | c.700C>T (p.Leu234Phe)
| gnomAD v4 |
X | g.50916129T>A | CA413198486 | BMP15 | c.701T>A (p.Leu234His)
| gnomAD v4 |
X | g.50916129T>C | CA413198487 | BMP15 | c.701T>C (p.Leu234Pro)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.50916129T>G | CA413198488 | BMP15 | c.701T>G (p.Leu234Arg)
| |
X | g.50916129T= | CA2429025851 | BMP15 | c.701T= (p.Leu234=)
| |
X | g.50916130C>A | CA516681119 | BMP15 | c.702C>A (p.Leu234=)
| |
X | g.50916130C= | CA2429025852 | BMP15 | c.702C= (p.Leu234=)
| |
X | g.50916130C>G | CA516681120 | BMP15 | c.702C>G (p.Leu234=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.50916130C>T | CA516681121 | BMP15 | c.702C>T (p.Leu234=)
| dbSNP gnomAD v4 |
X | g.50916131T>A | CA413198489 | BMP15 | c.703T>A (p.Tyr235Asn)
| |
X | g.50916131T>C | CA413198490 | BMP15 | c.703T>C (p.Tyr235His)
| |
X | g.50916131T>G | CA413198491 | BMP15 | c.703T>G (p.Tyr235Asp)
| |
X | g.50916132A= | CA2429025853 | BMP15 | c.704A= (p.Tyr235=)
| |
X | g.50916132A>C | CA413198492 | BMP15 | c.704A>C (p.Tyr235Ser)
| dbSNP gnomAD v2 |
X | g.50916132A>G | CA121500 | BMP15 | c.704A>G (p.Tyr235Cys)
| ClinVar dbSNP gnomAD v4 |
X | g.50916132A>T | CA413198493 | BMP15 | c.704A>T (p.Tyr235Phe)
| gnomAD v4 |
X | g.50916133T>A | CA413198495 | BMP15 | c.705T>A (p.Tyr235Ter)
| |
X | g.50916133T>C | CA516681132 | BMP15 | c.705T>C (p.Tyr235=)
| gnomAD v4 |
X | g.50916133T>G | CA413198494 | BMP15 | c.705T>G (p.Tyr235Ter)
| |
X | g.50916134T>A | CA413198496 | BMP15 | c.706T>A (p.Phe236Ile)
| |
X | g.50916134T>C | CA413198498 | BMP15 | c.706T>C (p.Phe236Leu)
| gnomAD v3 gnomAD v4 |
X | g.50916134T>G | CA413198497 | BMP15 | c.706T>G (p.Phe236Val)
| |
X | g.50916135T>A | CA413198499 | BMP15 | c.707T>A (p.Phe236Tyr)
| |
X | g.50916135T>C | CA413198500 | BMP15 | c.707T>C (p.Phe236Ser)
| |
X | g.50916135T>G | CA413198501 | BMP15 | c.707T>G (p.Phe236Cys)
| |
X | g.50916136C>A | CA413198502 | BMP15 | c.708C>A (p.Phe236Leu)
| |
X | g.50916136C>G | CA413198503 | BMP15 | c.708C>G (p.Phe236Leu)
| |
X | g.50916136C>T | CA516681139 | BMP15 | c.708C>T (p.Phe236=)
| |
X | g.50916137A>C | CA413198504 | BMP15 | c.709A>C (p.Asn237His)
| |
X | g.50916137A>G | CA413198505 | BMP15 | c.709A>G (p.Asn237Asp)
| |
X | g.50916137A>T | CA413198506 | BMP15 | c.709A>T (p.Asn237Tyr)
| |
X | g.50916138A= | CA2429025854 | BMP15 | c.710A= (p.Asn237=)
| |
X | g.50916138A>C | CA413198507 | BMP15 | c.710A>C (p.Asn237Thr)
| |
X | g.50916138A>G | CA10416588 | BMP15 | c.710A>G (p.Asn237Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50916138A>T | CA413198508 | BMP15 | c.710A>T (p.Asn237Ile)
| |
X | g.50916139T>A | CA413198509 | BMP15 | c.711T>A (p.Asn237Lys)
| |
X | g.50916139T>C | CA516681150 | BMP15 | c.711T>C (p.Asn237=)
| gnomAD v4 |
X | g.50916139T>G | CA413198510 | BMP15 | c.711T>G (p.Asn237Lys)
| dbSNP |
X | g.50916139T= | CA2429025855 | BMP15 | c.711T= (p.Asn237=)
| |
X | g.50916140G>A | CA413198513 | BMP15 | c.712G>A (p.Asp238Asn)
| gnomAD v4 |
X | g.50916140G>C | CA413198511 | BMP15 | c.712G>C (p.Asp238His)
| |
X | g.50916140G>T | CA413198512 | BMP15 | c.712G>T (p.Asp238Tyr)
| gnomAD v4 |
X | g.50916141A>C | CA413198514 | BMP15 | c.713A>C (p.Asp238Ala)
| |
X | g.50916141A>G | CA413198515 | BMP15 | c.713A>G (p.Asp238Gly)
| |
X | g.50916141A>T | CA413198516 | BMP15 | c.713A>T (p.Asp238Val)
| |
X | g.50916142T>A | CA413198517 | BMP15 | c.714T>A (p.Asp238Glu)
| |
X | g.50916142T>C | CA516681157 | BMP15 | c.714T>C (p.Asp238=)
| dbSNP |
X | g.50916142T>G | CA413198518 | BMP15 | c.714T>G (p.Asp238Glu)
| |
X | g.50916142T= | CA2429025856 | BMP15 | c.714T= (p.Asp238=)
| |
X | g.50916143A>C | CA413198519 | BMP15 | c.715A>C (p.Thr239Pro)
| |
X | g.50916143A>G | CA413198520 | BMP15 | c.715A>G (p.Thr239Ala)
| gnomAD v4 |
X | g.50916143A>T | CA413198521 | BMP15 | c.715A>T (p.Thr239Ser)
| |
X | g.50916144C>A | CA413198522 | BMP15 | c.716C>A (p.Thr239Asn)
| |
X | g.50916144C= | CA2429025857 | BMP15 | c.716C= (p.Thr239=)
| |
X | g.50916144C>G | CA413198523 | BMP15 | c.716C>G (p.Thr239Ser)
| |
X | g.50916144C>T | CA413198524 | BMP15 | c.716C>T (p.Thr239Ile)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.50916145T>A | CA516681166 | BMP15 | c.717T>A (p.Thr239=)
| |
X | g.50916145T>C | CA516681168 | BMP15 | c.717T>C (p.Thr239=)
| |
X | g.50916145T>G | CA516681169 | BMP15 | c.717T>G (p.Thr239=)
| gnomAD v4 |
X | g.50916146C>A | CA413198527 | BMP15 | c.718C>A (p.His240Asn)
| |
X | g.50916146C>G | CA413198526 | BMP15 | c.718C>G (p.His240Asp)
| |
X | g.50916146C>T | CA413198525 | BMP15 | c.718C>T (p.His240Tyr)
| |
X | g.50916147A>C | CA413198528 | BMP15 | c.719A>C (p.His240Pro)
| |
X | g.50916147A>G | CA413198529 | BMP15 | c.719A>G (p.His240Arg)
| |
X | g.50916147A>T | CA413198530 | BMP15 | c.719A>T (p.His240Leu)
| gnomAD v4 |
X | g.50916148_50916149del | CA2693751511 | BMP15 | c.720_721del (p.His240GlnfsTer7)
| gnomAD v4 |
X | g.50916147_50916152del | CA2544176297 | BMP15 | c.719_724del (p.His240_Ser242delinsArg)
| |
X | g.50916148T>A | CA413198531 | BMP15 | c.720T>A (p.His240Gln)
| |
X | g.50916148T>C | CA516681177 | BMP15 | c.720T>C (p.His240=)
| |
X | g.50916148T>G | CA413198532 | BMP15 | c.720T>G (p.His240Gln)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.50916148T= | CA2429025858 | BMP15 | c.720T= (p.His240=)
| |
X | g.50916149A>C | CA413198533 | BMP15 | c.721A>C (p.Lys241Gln)
| |
X | g.50916149A>G | CA413198534 | BMP15 | c.721A>G (p.Lys241Glu)
| gnomAD v4 |
X | g.50916149A>T | CA413198535 | BMP15 | c.721A>T (p.Lys241Ter)
| |
X | g.50916150A>C | CA413198536 | BMP15 | c.722A>C (p.Lys241Thr)
| |
X | g.50916150A>G | CA413198537 | BMP15 | c.722A>G (p.Lys241Arg)
| |
X | g.50916150A>T | CA413198538 | BMP15 | c.722A>T (p.Lys241Ile)
| |
X | g.50916151A>C | CA413198539 | BMP15 | c.723A>C (p.Lys241Asn)
| |
X | g.50916151A>G | CA516681190 | BMP15 | c.723A>G (p.Lys241=)
| |
X | g.50916151A>T | CA413198540 | BMP15 | c.723A>T (p.Lys241Asn)
| |
X | g.50916152A= | CA2429025859 | BMP15 | c.724A= (p.Ser242=)
| |
X | g.50916152A>C | CA413198543 | BMP15 | c.724A>C (p.Ser242Arg)
| |
X | g.50916152A>G | CA413198541 | BMP15 | c.724A>G (p.Ser242Gly)
| dbSNP gnomAD v4 |
X | g.50916152A>T | CA413198542 | BMP15 | c.724A>T (p.Ser242Cys)
| |
X | g.50916153G>A | CA413198544 | BMP15 | c.725G>A (p.Ser242Asn)
| dbSNP COSMIC |
X | g.50916153G>C | CA413198545 | BMP15 | c.725G>C (p.Ser242Thr)
| COSMIC |
X | g.50916153G= | CA2429025860 | BMP15 | c.725G= (p.Ser242=)
| |
X | g.50916153G>T | CA413198546 | BMP15 | c.725G>T (p.Ser242Ile)
| |
X | g.50916154C>A | CA413198547 | BMP15 | c.726C>A (p.Ser242Arg)
| |
X | g.50916154C= | CA2429025861 | BMP15 | c.726C= (p.Ser242=)
| |
X | g.50916154C>G | CA413198548 | BMP15 | c.726C>G (p.Ser242Arg)
| gnomAD v4 |
X | g.50916154C>T | CA10416589 | BMP15 | c.726C>T (p.Ser242=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50916155A= | CA2429025862 | BMP15 | c.727A= (p.Ile243=)
| |
X | g.50916155A>C | CA413198549 | BMP15 | c.727A>C (p.Ile243Leu)
| |
X | g.50916155A>G | CA10416590 | BMP15 | c.727A>G (p.Ile243Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50916155A>T | CA413198550 | BMP15 | c.727A>T (p.Ile243Phe)
| |
X | g.50916155_50916156insGTG | CA2523332367 | BMP15 | c.727_728insGTG (p.Ile243delinsSerVal)
| |
X | g.50916156T>A | CA413198551 | BMP15 | c.728T>A (p.Ile243Asn)
| |
X | g.50916156T>C | CA413198552 | BMP15 | c.728T>C (p.Ile243Thr)
| |
X | g.50916156T>G | CA10416591 | BMP15 | c.728T>G (p.Ile243Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50916156T= | CA2429025863 | BMP15 | c.728T= (p.Ile243=)
| |
X | g.50916157T>A | CA516681208 | BMP15 | c.729T>A (p.Ile243=)
| |
X | g.50916157T>C | CA516681206 | BMP15 | c.729T>C (p.Ile243=)
| |
X | g.50916157T>G | CA413198553 | BMP15 | c.729T>G (p.Ile243Met)
| |
X | g.50916158C>A | CA516681210 | BMP15 | c.730C>A (p.Arg244=)
| |
X | g.50916158C= | CA2429025864 | BMP15 | c.730C= (p.Arg244=)
| |
X | g.50916158C>G | CA413198554 | BMP15 | c.730C>G (p.Arg244Gly)
| |
X | g.50916158C>T | CA10416592 | BMP15 | c.730C>T (p.Arg244Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.50916159G>A | CA10416593 | BMP15 | c.731G>A (p.Arg244Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.50916159G>C | CA413198556 | BMP15 | c.731G>C (p.Arg244Pro)
| |
X | g.50916159G= | CA2429025865 | BMP15 | c.731G= (p.Arg244=)
| |
X | g.50916159G>T | CA413198555 | BMP15 | c.731G>T (p.Arg244Leu)
| |
X | g.50916160G>A | CA516681217 | BMP15 | c.732G>A (p.Arg244=)
| |
X | g.50916160G>C | CA516681219 | BMP15 | c.732G>C (p.Arg244=)
| |
X | g.50916160G>T | CA516681218 | BMP15 | c.732G>T (p.Arg244=)
| |
X | g.50916161A>C | CA413198557 | BMP15 | c.733A>C (p.Lys245Gln)
| |
X | g.50916161A>G | CA413198558 | BMP15 | c.733A>G (p.Lys245Glu)
| |
X | g.50916161A>T | CA413198559 | BMP15 | c.733A>T (p.Lys245Ter)
| |
X | g.50916162A>C | CA413198560 | BMP15 | c.734A>C (p.Lys245Thr)
| |
X | g.50916162A>G | CA413198561 | BMP15 | c.734A>G (p.Lys245Arg)
| |
X | g.50916162A>T | CA413198562 | BMP15 | c.734A>T (p.Lys245Met)
| |
X | g.50916163G>A | CA10416594 | BMP15 | c.735G>A (p.Lys245=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50916163G>C | CA413198563 | BMP15 | c.735G>C (p.Lys245Asn)
| |
X | g.50916163G= | CA2429025866 | BMP15 | c.735G= (p.Lys245=)
| |
X | g.50916163G>T | CA413198564 | BMP15 | c.735G>T (p.Lys245Asn)
| |
X | g.50916164G>A | CA413198565 | BMP15 | c.736G>A (p.Ala246Thr)
| |
X | g.50916164G>C | CA413198566 | BMP15 | c.736G>C (p.Ala246Pro)
| |
X | g.50916164G>T | CA413198567 | BMP15 | c.736G>T (p.Ala246Ser)
| |
X | g.50916165C>A | CA413198570 | BMP15 | c.737C>A (p.Ala246Asp)
| |
X | g.50916165C>G | CA413198568 | BMP15 | c.737C>G (p.Ala246Gly)
| |
X | g.50916165C>T | CA413198569 | BMP15 | c.737C>T (p.Ala246Val)
| |
X | g.50916166T>A | CA516681233 | BMP15 | c.738T>A (p.Ala246=)
| |
X | g.50916166T>C | CA516681235 | BMP15 | c.738T>C (p.Ala246=)
| |
X | g.50916166T>G | CA516681239 | BMP15 | c.738T>G (p.Ala246=)
| gnomAD v4 |