X | g.50910735_50916641del | CA1139667543 | BMP15 | c.-49_*34del
| ClinVar |
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 |
X | g.50916167A>C | CA413198571 | BMP15 | c.739A>C (p.Lys247Gln)
| |
X | g.50916167A>G | CA413198572 | BMP15 | c.739A>G (p.Lys247Glu)
| |
X | g.50916167A>T | CA413198573 | BMP15 | c.739A>T (p.Lys247Ter)
| |
X | g.50916168A>C | CA413198574 | BMP15 | c.740A>C (p.Lys247Thr)
| |
X | g.50916168A>G | CA413198575 | BMP15 | c.740A>G (p.Lys247Arg)
| |
X | g.50916168A>T | CA413198576 | BMP15 | c.740A>T (p.Lys247Ile)
| |
X | g.50916169A= | CA2429025867 | BMP15 | c.741A= (p.Lys247=)
| |
X | g.50916169A>C | CA413198577 | BMP15 | c.741A>C (p.Lys247Asn)
| |
X | g.50916169A>G | CA516681244 | BMP15 | c.741A>G (p.Lys247=)
| dbSNP |
X | g.50916169A>T | CA413198578 | BMP15 | c.741A>T (p.Lys247Asn)
| |
X | g.50916170T>A | CA413198579 | BMP15 | c.742T>A (p.Phe248Ile)
| |
X | g.50916170T>C | CA413198580 | BMP15 | c.742T>C (p.Phe248Leu)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.50916170T>G | CA413198581 | BMP15 | c.742T>G (p.Phe248Val)
| |
X | g.50916170T= | CA2429025868 | BMP15 | c.742T= (p.Phe248=)
| |
X | g.50916172del | CA2502924578 | BMP15 | c.744del (p.Leu249PhefsTer?)
| |
X | g.50916171T>A | CA413198584 | BMP15 | c.743T>A (p.Phe248Tyr)
| |
X | g.50916171T>C | CA413198583 | BMP15 | c.743T>C (p.Phe248Ser)
| |
X | g.50916171T>G | CA413198582 | BMP15 | c.743T>G (p.Phe248Cys)
| |
X | g.50916172T>A | CA413198586 | BMP15 | c.744T>A (p.Phe248Leu)
| |
X | g.50916172T>C | CA516681251 | BMP15 | c.744T>C (p.Phe248=)
| |
X | g.50916172T>G | CA413198585 | BMP15 | c.744T>G (p.Phe248Leu)
| |
X | g.50916173C>A | CA413198587 | BMP15 | c.745C>A (p.Leu249Ile)
| |
X | g.50916173C>G | CA413198588 | BMP15 | c.745C>G (p.Leu249Val)
| |
X | g.50916173C>T | CA413198589 | BMP15 | c.745C>T (p.Leu249Phe)
| COSMIC |
X | g.50916174T>A | CA413198590 | BMP15 | c.746T>A (p.Leu249His)
| |
X | g.50916174T>C | CA413198591 | BMP15 | c.746T>C (p.Leu249Pro)
| |
X | g.50916174T>G | CA413198592 | BMP15 | c.746T>G (p.Leu249Arg)
| |
X | g.50916175T>A | CA516681393 | BMP15 | c.747T>A (p.Leu249=)
| |
X | g.50916175T>C | CA516681394 | BMP15 | c.747T>C (p.Leu249=)
| |
X | g.50916175T>G | CA516681395 | BMP15 | c.747T>G (p.Leu249=)
| |
X | g.50916176C>A | CA413198593 | BMP15 | c.748C>A (p.Pro250Thr)
| |
X | g.50916176C>G | CA413198594 | BMP15 | c.748C>G (p.Pro250Ala)
| |
X | g.50916176C>T | CA413198595 | BMP15 | c.748C>T (p.Pro250Ser)
| |
X | g.50916176_50916177delinsTT | CA645613579 | BMP15 | c.748_749delinsTT (p.Pro250Phe)
| COSMIC |
X | g.50916177C>A | CA413198596 | BMP15 | c.749C>A (p.Pro250His)
| gnomAD v4 COSMIC |
X | g.50916177C>G | CA413198597 | BMP15 | c.749C>G (p.Pro250Arg)
| |
X | g.50916177C>T | CA413198598 | BMP15 | c.749C>T (p.Pro250Leu)
| COSMIC |
X | g.50916178C>A | CA516681398 | BMP15 | c.750C>A (p.Pro250=)
| |
X | g.50916178C= | CA2429025869 | BMP15 | c.750C= (p.Pro250=)
| |
X | g.50916178C>G | CA516681399 | BMP15 | c.750C>G (p.Pro250=)
| |
X | g.50916178C>T | CA516681400 | BMP15 | c.750C>T (p.Pro250=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.50916179del | CA2693751512 | BMP15 | c.751del (p.Arg251GlyfsTer?)
| gnomAD v4 |
X | g.50916179A= | CA2429025870 | BMP15 | c.751A= (p.Arg251=)
| |
X | g.50916179A>C | CA516681401 | BMP15 | c.751A>C (p.Arg251=)
| |
X | g.50916179A>G | CA10416595 | BMP15 | c.751A>G (p.Arg251Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50916179A>T | CA413198599 | BMP15 | c.751A>T (p.Arg251Trp)
| |
X | g.50916180G>A | CA413198600 | BMP15 | c.752G>A (p.Arg251Lys)
| |
X | g.50916180G>C | CA413198601 | BMP15 | c.752G>C (p.Arg251Thr)
| |
X | g.50916180G>T | CA413198602 | BMP15 | c.752G>T (p.Arg251Met)
| |
X | g.50916181G>A | CA516681406 | BMP15 | c.753G>A (p.Arg251=)
| gnomAD v4 |
X | g.50916181G>C | CA413198603 | BMP15 | c.753G>C (p.Arg251Ser)
| |
X | g.50916181G>T | CA413198604 | BMP15 | c.753G>T (p.Arg251Ser)
| |
X | g.50916182G>A | CA413198605 | BMP15 | c.754G>A (p.Gly252Ser)
| gnomAD v4 |
X | g.50916182G>C | CA413198606 | BMP15 | c.754G>C (p.Gly252Arg)
| |
X | g.50916182G>T | CA413198607 | BMP15 | c.754G>T (p.Gly252Cys)
| |
X | g.50916183G>A | CA413198608 | BMP15 | c.755G>A (p.Gly252Asp)
| |
X | g.50916183G>C | CA413198609 | BMP15 | c.755G>C (p.Gly252Ala)
| |
X | g.50916183G= | CA2429025871 | BMP15 | c.755G= (p.Gly252=)
| |
X | g.50916183G>T | CA10416596 | BMP15 | c.755G>T (p.Gly252Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50916184C>A | CA516681410 | BMP15 | c.756C>A (p.Gly252=)
| |
X | g.50916184C>G | CA516681411 | BMP15 | c.756C>G (p.Gly252=)
| |
X | g.50916184C>T | CA516681413 | BMP15 | c.756C>T (p.Gly252=)
| gnomAD v4 |
X | g.50916185A= | CA2429025872 | BMP15 | c.757A= (p.Met253=)
| |
X | g.50916185A>C | CA413198610 | BMP15 | c.757A>C (p.Met253Leu)
| |
X | g.50916185A>G | CA10416597 | BMP15 | c.757A>G (p.Met253Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50916185A>T | CA413198611 | BMP15 | c.757A>T (p.Met253Leu)
| |
X | g.50916186T>A | CA413198613 | BMP15 | c.758T>A (p.Met253Lys)
| |
X | g.50916186T>C | CA329809794 | BMP15 | c.758T>C (p.Met253Thr)
| dbSNP gnomAD v4 |
X | g.50916186T>G | CA413198612 | BMP15 | c.758T>G (p.Met253Arg)
| |
X | g.50916186T= | CA2429025873 | BMP15 | c.758T= (p.Met253=)
| |
X | g.50916187G>A | CA413198614 | BMP15 | c.759G>A (p.Met253Ile)
| |
X | g.50916187G>C | CA413198615 | BMP15 | c.759G>C (p.Met253Ile)
| |
X | g.50916187G>T | CA413198616 | BMP15 | c.759G>T (p.Met253Ile)
| |
X | g.50916188G>A | CA413198617 | BMP15 | c.760G>A (p.Glu254Lys)
| |
X | g.50916188G>C | CA413198618 | BMP15 | c.760G>C (p.Glu254Gln)
| |
X | g.50916188G>T | CA413198619 | BMP15 | c.760G>T (p.Glu254Ter)
| COSMIC |
X | g.50916189A>C | CA413198622 | BMP15 | c.761A>C (p.Glu254Ala)
| |
X | g.50916189A>G | CA413198620 | BMP15 | c.761A>G (p.Glu254Gly)
| |
X | g.50916189A>T | CA413198621 | BMP15 | c.761A>T (p.Glu254Val)
| |
X | g.50916190G>A | CA516681422 | BMP15 | c.762G>A (p.Glu254=)
| |
X | g.50916190G>C | CA413198623 | BMP15 | c.762G>C (p.Glu254Asp)
| |
X | g.50916190G>T | CA413198624 | BMP15 | c.762G>T (p.Glu254Asp)
| |
X | g.50916191G>A | CA413198625 | BMP15 | c.763G>A (p.Glu255Lys)
| COSMIC |
X | g.50916191G>C | CA413198626 | BMP15 | c.763G>C (p.Glu255Gln)
| |
X | g.50916191G>T | CA413198627 | BMP15 | c.763G>T (p.Glu255Ter)
| |
X | g.50916192A>C | CA413198630 | BMP15 | c.764A>C (p.Glu255Ala)
| |
X | g.50916192A>G | CA413198628 | BMP15 | c.764A>G (p.Glu255Gly)
| |
X | g.50916192A>T | CA413198629 | BMP15 | c.764A>T (p.Glu255Val)
| gnomAD v4 |
X | g.50916193G>A | CA516681429 | BMP15 | c.765G>A (p.Glu255=)
| dbSNP |
X | g.50916193G>C | CA413198631 | BMP15 | c.765G>C (p.Glu255Asp)
| gnomAD v4 |
X | g.50916193G= | CA2429025874 | BMP15 | c.765G= (p.Glu255=)
| |
X | g.50916193G>T | CA413198632 | BMP15 | c.765G>T (p.Glu255Asp)
| |
X | g.50916194T>A | CA413198633 | BMP15 | c.766T>A (p.Phe256Ile)
| |
X | g.50916194T>C | CA10416598 | BMP15 | c.766T>C (p.Phe256Leu)
| dbSNP ExAC gnomAD v2 |
X | g.50916194T>G | CA413198634 | BMP15 | c.766T>G (p.Phe256Val)
| |
X | g.50916194T= | CA2429025875 | BMP15 | c.766T= (p.Phe256=)
| |
X | g.50916195T>A | CA413198635 | BMP15 | c.767T>A (p.Phe256Tyr)
| |
X | g.50916195T>C | CA413198636 | BMP15 | c.767T>C (p.Phe256Ser)
| |
X | g.50916195T>G | CA413198637 | BMP15 | c.767T>G (p.Phe256Cys)
| |
X | g.50916196C>A | CA413198638 | BMP15 | c.768C>A (p.Phe256Leu)
| |
X | g.50916196C>G | CA413198639 | BMP15 | c.768C>G (p.Phe256Leu)
| |
X | g.50916196C>T | CA516681437 | BMP15 | c.768C>T (p.Phe256=)
| |
X | g.50916197A>C | CA413198640 | BMP15 | c.769A>C (p.Met257Leu)
| |
X | g.50916197A>G | CA413198641 | BMP15 | c.769A>G (p.Met257Val)
| gnomAD v4 |
X | g.50916197A>T | CA413198642 | BMP15 | c.769A>T (p.Met257Leu)
| gnomAD v4 |
X | g.50916198T>A | CA413198643 | BMP15 | c.770T>A (p.Met257Lys)
| |
X | g.50916198T>C | CA413198645 | BMP15 | c.770T>C (p.Met257Thr)
| |
X | g.50916198T>G | CA413198644 | BMP15 | c.770T>G (p.Met257Arg)
| |
X | g.50916199G>A | CA413198646 | BMP15 | c.771G>A (p.Met257Ile)
| |
X | g.50916199G>C | CA413198647 | BMP15 | c.771G>C (p.Met257Ile)
| |
X | g.50916199G>T | CA413198648 | BMP15 | c.771G>T (p.Met257Ile)
| |
X | g.50916200G>A | CA413198649 | BMP15 | c.772G>A (p.Glu258Lys)
| gnomAD v4 |
X | g.50916200G>C | CA413198650 | BMP15 | c.772G>C (p.Glu258Gln)
| |
X | g.50916200G>T | CA413198651 | BMP15 | c.772G>T (p.Glu258Ter)
| |
X | g.50916201A= | CA2429025876 | BMP15 | c.773A= (p.Glu258=)
| |
X | g.50916201A>C | CA413198652 | BMP15 | c.773A>C (p.Glu258Ala)
| |
X | g.50916201A>G | CA413198653 | BMP15 | c.773A>G (p.Glu258Gly)
| dbSNP |
X | g.50916201A>T | CA413198654 | BMP15 | c.773A>T (p.Glu258Val)
| |
X | g.50916203del | CA2820881080 | BMP15 | c.775del (p.Arg259GlyfsTer?)
| |
X | g.50916202A>C | CA413198655 | BMP15 | c.774A>C (p.Glu258Asp)
| |
X | g.50916202A>G | CA516681451 | BMP15 | c.774A>G (p.Glu258=)
| |
X | g.50916202A>T | CA413198656 | BMP15 | c.774A>T (p.Glu258Asp)
| |
X | g.50916203A>C | CA516681456 | BMP15 | c.775A>C (p.Arg259=)
| |
X | g.50916203A>G | CA413198657 | BMP15 | c.775A>G (p.Arg259Gly)
| |
X | g.50916203A>T | CA413198658 | BMP15 | c.775A>T (p.Arg259Trp)
| |
X | g.50916204G>A | CA413198659 | BMP15 | c.776G>A (p.Arg259Lys)
| |
X | g.50916204G>C | CA413198661 | BMP15 | c.776G>C (p.Arg259Thr)
| |
X | g.50916204G>T | CA413198660 | BMP15 | c.776G>T (p.Arg259Met)
| |
X | g.50916205G>A | CA516681462 | BMP15 | c.777G>A (p.Arg259=)
| |
X | g.50916205G>C | CA413198662 | BMP15 | c.777G>C (p.Arg259Ser)
| |
X | g.50916205G>T | CA413198663 | BMP15 | c.777G>T (p.Arg259Ser)
| |
X | g.50916206G>A | CA10416600 | BMP15 | c.778G>A (p.Glu260Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50916206G>C | CA10416599 | BMP15 | c.778G>C (p.Glu260Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50916206G= | CA2429025877 | BMP15 | c.778G= (p.Glu260=)
| |
X | g.50916206G>T | CA413198664 | BMP15 | c.778G>T (p.Glu260Ter)
| |
X | g.50916207A>C | CA413198665 | BMP15 | c.779A>C (p.Glu260Ala)
| |
X | g.50916207A>G | CA413198666 | BMP15 | c.779A>G (p.Glu260Gly)
| gnomAD v4 |
X | g.50916207A>T | CA413198667 | BMP15 | c.779A>T (p.Glu260Val)
| |
X | g.50916208A= | CA2429025878 | BMP15 | c.780A= (p.Glu260=)
| |
X | g.50916208A>C | CA413198668 | BMP15 | c.780A>C (p.Glu260Asp)
| |
X | g.50916208A>G | CA516681471 | BMP15 | c.780A>G (p.Glu260=)
| |
X | g.50916208A>T | CA413198669 | BMP15 | c.780A>T (p.Glu260Asp)
| |
X | g.50916209T>A | CA413198672 | BMP15 | c.781T>A (p.Ser261Thr)
| |
X | g.50916209T>C | CA413198671 | BMP15 | c.781T>C (p.Ser261Pro)
| |
X | g.50916209T>G | CA413198670 | BMP15 | c.781T>G (p.Ser261Ala)
| |
X | g.50916212_50916213dup | CA920411289 | BMP15 | c.784_785dup (p.Leu263PhefsTer?)
| dbSNP |
X | g.50916210C>A | CA413198673 | BMP15 | c.782C>A (p.Ser261Tyr)
| |
X | g.50916210C= | CA2429025879 | BMP15 | c.782C= (p.Ser261=)
| |
X | g.50916210C>G | CA413198675 | BMP15 | c.782C>G (p.Ser261Cys)
| |
X | g.50916210C>T | CA413198674 | BMP15 | c.782C>T (p.Ser261Phe)
| |
X | g.50916211T>A | CA516681479 | BMP15 | c.783T>A (p.Ser261=)
| |
X | g.50916211T>C | CA516681481 | BMP15 | c.783T>C (p.Ser261=)
| |
X | g.50916211T>G | CA516681482 | BMP15 | c.783T>G (p.Ser261=)
| |
X | g.50916214_50916216dup | CA10416601 | BMP15 | c.786_788dup (p.Leu263_Arg264insLeu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.50916212C>A | CA413198678 | BMP15 | c.784C>A (p.Leu262Ile)
| |
X | g.50916212C>G | CA413198677 | BMP15 | c.784C>G (p.Leu262Val)
| |
X | g.50916212C>T | CA413198676 | BMP15 | c.784C>T (p.Leu262Phe)
| gnomAD v4 |
X | g.50916213T>A | CA413198680 | BMP15 | c.785T>A (p.Leu262His)
| |
X | g.50916213T>C | CA413198681 | BMP15 | c.785T>C (p.Leu262Pro)
| |
X | g.50916213T>G | CA413198679 | BMP15 | c.785T>G (p.Leu262Arg)
| |
X | g.50916213T= | CA2429025880 | BMP15 | c.785T= (p.Leu262=)
| |
X | g.50916214T>A | CA516681489 | BMP15 | c.786T>A (p.Leu262=)
| |
X | g.50916214T>C | CA516681493 | BMP15 | c.786T>C (p.Leu262=)
| |
X | g.50916214T>G | CA516681494 | BMP15 | c.786T>G (p.Leu262=)
| |
X | g.50916214T= | CA2429025881 | BMP15 | c.786T= (p.Leu262=)
| |
X | g.50916216_50916217dup | CA920411290 | BMP15 | c.788_789dup (p.Arg264SerfsTer?)
| dbSNP |
X | g.50916215C>A | CA413198682 | BMP15 | c.787C>A (p.Leu263Ile)
| |
X | g.50916215C>G | CA413198683 | BMP15 | c.787C>G (p.Leu263Val)
| |
X | g.50916215C>T | CA413198684 | BMP15 | c.787C>T (p.Leu263Phe)
| |
X | g.50916215_50916216delinsCT | CA2429025882 | BMP15 | c.787_788delinsCT (p.Leu263=)
| |
X | g.50916216_50916218dup | CA920411292 | BMP15 | c.788_790dup (p.Leu263_Arg264insLeu)
| dbSNP |