| X | g.50910735_50916641del | CA1139667543 | BMP15 | c.-49_*34del
| ClinVar |
| X | g.50911083C>A | CA516681197 | BMP15 | c.300C>A (p.Pro100=)
| gnomAD v4 COSMIC |
| X | g.50911083C>G | CA516681198 | BMP15 | c.300C>G (p.Pro100=)
| |
| X | g.50911083C>T | CA516681199 | BMP15 | c.300C>T (p.Pro100=)
| dbSNP |
| X | g.50911084T>A | CA413197596 | BMP15 | c.301T>A (p.Leu101Met)
| |
| X | g.50911084T>C | CA516681203 | BMP15 | c.301T>C (p.Leu101=)
| gnomAD v4 |
| X | g.50911084T>G | CA413197597 | BMP15 | c.301T>G (p.Leu101Val)
| |
| X | g.50911085del | CA2693751396 | BMP15 | c.302del (p.Leu101Ter)
| gnomAD v4 |
| X | g.50911085T>A | CA413197598 | BMP15 | c.302T>A (p.Leu101Ter)
| |
| X | g.50911085T>C | CA413197599 | BMP15 | c.302T>C (p.Leu101Ser)
| gnomAD v4 |
| X | g.50911085T>G | CA413197600 | BMP15 | c.302T>G (p.Leu101Trp)
| |
| X | g.50911086G>A | CA516681204 | BMP15 | c.303G>A (p.Leu101=)
| gnomAD v4 |
| X | g.50911086G>C | CA413197601 | BMP15 | c.303G>C (p.Leu101Phe)
| |
| X | g.50911086G>T | CA413197602 | BMP15 | c.303G>T (p.Leu101Phe)
| gnomAD v4 |
| X | g.50911087A>C | CA413197603 | BMP15 | c.304A>C (p.Thr102Pro)
| |
| X | g.50911087A>G | CA413197604 | BMP15 | c.304A>G (p.Thr102Ala)
| gnomAD v4 |
| X | g.50911087A>T | CA413197605 | BMP15 | c.304A>T (p.Thr102Ser)
| |
| X | g.50911088C>A | CA413197608 | BMP15 | c.305C>A (p.Thr102Asn)
| gnomAD v4 |
| X | g.50911088C>G | CA413197607 | BMP15 | c.305C>G (p.Thr102Ser)
| |
| X | g.50911088C>T | CA413197606 | BMP15 | c.305C>T (p.Thr102Ile)
| |
| X | g.50911089C>A | CA516681212 | BMP15 | c.306C>A (p.Thr102=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.50911089C= | CA2429024032 | BMP15 | c.306C= (p.Thr102=)
| |
| X | g.50911089C>G | CA516681213 | BMP15 | c.306C>G (p.Thr102=)
| |
| X | g.50911089C>T | CA516681215 | BMP15 | c.306C>T (p.Thr102=)
| gnomAD v4 |
| X | g.50911090A= | CA2429024033 | BMP15 | c.307A= (p.Asn103=)
| |
| X | g.50911090A>C | CA413197609 | BMP15 | c.307A>C (p.Asn103His)
| dbSNP |
| X | g.50911090A>G | CA413197610 | BMP15 | c.307A>G (p.Asn103Asp)
| |
| X | g.50911090A>T | CA413197611 | BMP15 | c.307A>T (p.Asn103Tyr)
| |
| X | g.50911091A= | CA2429024034 | BMP15 | c.308A= (p.Asn103=)
| |
| X | g.50911091A>C | CA413197612 | BMP15 | c.308A>C (p.Asn103Thr)
| |
| X | g.50911091A>G | CA289715 | BMP15 | c.308A>G (p.Asn103Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.50911091A>T | CA413197613 | BMP15 | c.308A>T (p.Asn103Ile)
| gnomAD v4 |
| X | g.50911092T>A | CA413197614 | BMP15 | c.309T>A (p.Asn103Lys)
| |
| X | g.50911092T>C | CA516681222 | BMP15 | c.309T>C (p.Asn103=)
| dbSNP gnomAD v4 |
| X | g.50911092T>G | CA413197615 | BMP15 | c.309T>G (p.Asn103Lys)
| |
| X | g.50911092T= | CA2429024035 | BMP15 | c.309T= (p.Asn103=)
| |
| X | g.50911093G>A | CA413197616 | BMP15 | c.310G>A (p.Val104Met)
| gnomAD v4 COSMIC |
| X | g.50911093G>C | CA413197617 | BMP15 | c.310G>C (p.Val104Leu)
| |
| X | g.50911093G>T | CA413197618 | BMP15 | c.310G>T (p.Val104Leu)
| |
| X | g.50911094T>A | CA413197619 | BMP15 | c.311T>A (p.Val104Glu)
| |
| X | g.50911094T>C | CA413197620 | BMP15 | c.311T>C (p.Val104Ala)
| COSMIC |
| X | g.50911094T>G | CA413197621 | BMP15 | c.311T>G (p.Val104Gly)
| |
| X | g.50911095G>A | CA516681231 | BMP15 | c.312G>A (p.Val104=)
| gnomAD v4 |
| X | g.50911095G>C | CA516681227 | BMP15 | c.312G>C (p.Val104=)
| |
| X | g.50911095G>T | CA516681229 | BMP15 | c.312G>T (p.Val104=)
| gnomAD v4 |
| X | g.50911096G>A | CA413197623 | BMP15 | c.313G>A (p.Ala105Thr)
| gnomAD v4 |
| X | g.50911096G>C | CA413197624 | BMP15 | c.313G>C (p.Ala105Pro)
| |
| X | g.50911096G>T | CA413197622 | BMP15 | c.313G>T (p.Ala105Ser)
| |
| X | g.50911097C>A | CA413197625 | BMP15 | c.314C>A (p.Ala105Glu)
| gnomAD v4 |
| X | g.50911097C= | CA2429024036 | BMP15 | c.314C= (p.Ala105=)
| |
| X | g.50911097C>G | CA10416516 | BMP15 | c.314C>G (p.Ala105Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50911097C>T | CA413197626 | BMP15 | c.314C>T (p.Ala105Val)
| gnomAD v4 |
| X | g.50911098A>C | CA516681236 | BMP15 | c.315A>C (p.Ala105=)
| |
| X | g.50911098A>G | CA516681240 | BMP15 | c.315A>G (p.Ala105=)
| |
| X | g.50911098A>T | CA516681241 | BMP15 | c.315A>T (p.Ala105=)
| |
| X | g.50911099del | CA645613577 | BMP15 | c.316del (p.Arg106GlyfsTer25)
| COSMIC |
| X | g.50911099A>C | CA516681243 | BMP15 | c.316A>C (p.Arg106=)
| |
| X | g.50911099A>G | CA413197627 | BMP15 | c.316A>G (p.Arg106Gly)
| |
| X | g.50911099A>T | CA413197628 | BMP15 | c.316A>T (p.Arg106Trp)
| |
| X | g.50911100G>A | CA413197629 | BMP15 | c.317G>A (p.Arg106Lys)
| gnomAD v4 |
| X | g.50911100G>C | CA413197630 | BMP15 | c.317G>C (p.Arg106Thr)
| |
| X | g.50911100G>T | CA413197631 | BMP15 | c.317G>T (p.Arg106Met)
| |
| X | g.50911101G>A | CA516681249 | BMP15 | c.318G>A (p.Arg106=)
| gnomAD v4 |
| X | g.50911101G>C | CA413197632 | BMP15 | c.318G>C (p.Arg106Ser)
| |
| X | g.50911101G>T | CA413197633 | BMP15 | c.318G>T (p.Arg106Ser)
| |
| X | g.50911102C>A | CA413197634 | BMP15 | c.319C>A (p.Pro107Thr)
| gnomAD v4 |
| X | g.50911102C>G | CA413197635 | BMP15 | c.319C>G (p.Pro107Ala)
| |
| X | g.50911102C>T | CA413197636 | BMP15 | c.319C>T (p.Pro107Ser)
| |
| X | g.50911103C>A | CA413197637 | BMP15 | c.320C>A (p.Pro107His)
| |
| X | g.50911103C>G | CA413197639 | BMP15 | c.320C>G (p.Pro107Arg)
| |
| X | g.50911103C>T | CA413197638 | BMP15 | c.320C>T (p.Pro107Leu)
| |
| X | g.50911104T>A | CA516681255 | BMP15 | c.321T>A (p.Pro107=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50911104T>C | CA516681256 | BMP15 | c.321T>C (p.Pro107=)
| |
| X | g.50911104T>G | CA516681257 | BMP15 | c.321T>G (p.Pro107=)
| |
| X | g.50911104T= | CA2429024037 | BMP15 | c.321T= (p.Pro107=)
| |
| X | g.50911105C>A | CA413197640 | BMP15 | c.322C>A (p.His108Asn)
| |
| X | g.50911105C>G | CA413197641 | BMP15 | c.322C>G (p.His108Asp)
| |
| X | g.50911105C>T | CA413197642 | BMP15 | c.322C>T (p.His108Tyr)
| gnomAD v4 |
| X | g.50911106A>C | CA413197643 | BMP15 | c.323A>C (p.His108Pro)
| |
| X | g.50911106A>G | CA413197644 | BMP15 | c.323A>G (p.His108Arg)
| |
| X | g.50911106A>T | CA413197645 | BMP15 | c.323A>T (p.His108Leu)
| |
| X | g.50911107C>A | CA413197646 | BMP15 | c.324C>A (p.His108Gln)
| COSMIC |
| X | g.50911107C= | CA2429024038 | BMP15 | c.324C= (p.His108=)
| |
| X | g.50911107C>G | CA413197647 | BMP15 | c.324C>G (p.His108Gln)
| gnomAD v4 |
| X | g.50911107C>T | CA10416517 | BMP15 | c.324C>T (p.His108=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50911107_50911109delinsCAG | CA2429024039 | BMP15 | c.324_326delinsCAG (p.His108=)
| |
| X | g.50911108A>C | CA516681260 | BMP15 | c.325A>C (p.Arg109=)
| |
| X | g.50911108A>G | CA413197648 | BMP15 | c.325A>G (p.Arg109Gly)
| gnomAD v4 |
| X | g.50911108A>T | CA413197649 | BMP15 | c.325A>T (p.Arg109Ter)
| |
| X | g.50911110_50911111del | CA641906335 | BMP15 | c.327_328del (p.Gly110TyrfsTer22)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50911109G>A | CA413197651 | BMP15 | c.326G>A (p.Arg109Lys)
| gnomAD v4 |
| X | g.50911109G>C | CA413197652 | BMP15 | c.326G>C (p.Arg109Thr)
| |
| X | g.50911109G>T | CA413197650 | BMP15 | c.326G>T (p.Arg109Ile)
| gnomAD v4 |
| X | g.50911110A>C | CA413197653 | BMP15 | c.327A>C (p.Arg109Ser)
| |
| X | g.50911110A>G | CA516681263 | BMP15 | c.327A>G (p.Arg109=)
| gnomAD v4 |
| X | g.50911110A>T | CA413197654 | BMP15 | c.327A>T (p.Arg109Ser)
| |
| X | g.50911111G>A | CA413197655 | BMP15 | c.328G>A (p.Gly110Ser)
| |
| X | g.50911111G>C | CA413197657 | BMP15 | c.328G>C (p.Gly110Arg)
| |
| X | g.50911111G>T | CA413197656 | BMP15 | c.328G>T (p.Gly110Cys)
| |
| X | g.50911112G>A | CA413197658 | BMP15 | c.328+1G>A (n.328+1G>A)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.50911112G>C | CA413197660 | BMP15 | c.328+1G>C (n.328+1G>C)
| |
| X | g.50911112G= | CA2429024040 | BMP15 | c.328+1G= (n.328+1G=)
| |
| X | g.50911112G>T | CA413197659 | BMP15 | c.328+1G>T (n.328+1G>T)
| |
| X | g.50911113T>A | CA413197661 | BMP15 | c.328+2T>A (n.328+2T>A)
| |
| X | g.50911113T>C | CA413197662 | BMP15 | c.328+2T>C (n.328+2T>C)
| |
| X | g.50911113T>G | CA413197663 | BMP15 | c.328+2T>G (n.328+2T>G)
| |
| X | g.50911114G>A | CA641906336 | BMP15 | c.328+3G>A (n.328+3G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50911114G= | CA2429024041 | BMP15 | c.328+3G= (n.328+3G=)
| |
| X | g.50911114G>T | CA2693751397 | BMP15 | c.328+3G>T (n.328+3G>T)
| gnomAD v4 |
| X | g.50911117T>C | CA2693751398 | BMP15 | c.328+6T>C (n.328+6T>C)
| gnomAD v4 |
| X | g.50911119G= | CA2429024042 | BMP15 | c.328+8G= (n.328+8G=)
| |
| X | g.50911119G>T | CA10416518 | BMP15 | c.328+8G>T (n.328+8G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50911122_50911123del | CA2579612637 | BMP15 | c.328+11_328+12del (n.328+11_328+12del)
| |
| X | g.50911122A= | CA2429024043 | BMP15 | c.328+11A= (n.328+11A=)
| |
| X | g.50911122A>G | CA876101708 | BMP15 | c.328+11A>G (n.328+11A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.50911123T>A | CA329809487 | BMP15 | c.328+12T>A (n.328+12T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.50911123T>C | CA2693751399 | BMP15 | c.328+12T>C (n.328+12T>C)
| gnomAD v4 |
| X | g.50911123T= | CA2429024044 | BMP15 | c.328+12T= (n.328+12T=)
| |
| X | g.50911125C>A | CA2522924038 | BMP15 | c.328+14C>A (n.328+14C>A)
| gnomAD v4 |
| X | g.50911125C= | CA2429024045 | BMP15 | c.328+14C= (n.328+14C=)
| |
| X | g.50911125C>T | CA10416519 | BMP15 | c.328+14C>T (n.328+14C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50911126C>T | CA516681270 | BMP15 | c.328+15C>T (n.328+15C>T)
| gnomAD v4 |
| X | g.50911127C>A | CA2579612638 | BMP15 | c.328+16C>A (n.328+16C>A)
| gnomAD v4 |
| X | g.50911127C>T | CA2693751400 | BMP15 | c.328+16C>T (n.328+16C>T)
| gnomAD v4 |
| X | g.50911128C>A | CA2693751401 | BMP15 | c.328+17C>A (n.328+17C>A)
| gnomAD v4 |
| X | g.50911128C>G | CA2693751402 | BMP15 | c.328+17C>G (n.328+17C>G)
| gnomAD v4 |
| X | g.50911129C>A | CA2693751403 | BMP15 | c.328+18C>A (n.328+18C>A)
| gnomAD v4 |
| X | g.50911130A= | CA2429024046 | BMP15 | c.328+19A= (n.328+19A=)
| |
| X | g.50911130A>C | CA10416520 | BMP15 | c.328+19A>C (n.328+19A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50911130A>G | CA2693751404 | BMP15 | c.328+19A>G (n.328+19A>G)
| gnomAD v4 |
| X | g.50911131T>C | CA2579612639 | BMP15 | c.328+20T>C (n.328+20T>C)
| gnomAD v4 |
| X | g.50911132A= | CA2429024047 | BMP15 | c.328+21A= (n.328+21A=)
| |
| X | g.50911132A>G | CA641906338 | BMP15 | c.328+21A>G (n.328+21A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.50911133C>G | CA2693751405 | BMP15 | c.328+22C>G (n.328+22C>G)
| gnomAD v4 |
| X | g.50911133C>T | CA2693751406 | BMP15 | c.328+22C>T (n.328+22C>T)
| gnomAD v4 |
| X | g.50911134T>C | CA2693751407 | BMP15 | c.328+23T>C (n.328+23T>C)
| gnomAD v4 |
| X | g.50911135G>A | CA10416521 | BMP15 | c.328+24G>A (n.328+24G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50911135G= | CA2429024048 | BMP15 | c.328+24G= (n.328+24G=)
| |
| X | g.50911135G>T | CA876101724 | BMP15 | c.328+24G>T (n.328+24G>T)
| dbSNP gnomAD v4 |
| X | g.50911138C>A | CA2693751408 | BMP15 | c.328+27C>A (n.328+27C>A)
| gnomAD v4 |
| X | g.50911140G>A | CA2693751409 | BMP15 | c.328+29G>A (n.328+29G>A)
| gnomAD v4 |
| X | g.50911141G= | CA2429024049 | BMP15 | c.328+30G= (n.328+30G=)
| |
| X | g.50911141G>T | CA876101733 | BMP15 | c.328+30G>T (n.328+30G>T)
| dbSNP |
| X | g.50911144G>A | CA2693751411 | BMP15 | c.328+33G>A (n.328+33G>A)
| gnomAD v4 |
| X | g.50911144G>T | CA2693751410 | BMP15 | c.328+33G>T (n.328+33G>T)
| gnomAD v4 |
| X | g.50911147A= | CA2429024050 | BMP15 | c.328+36A= (n.328+36A=)
| |
| X | g.50911147A>G | CA1133041987 | BMP15 | c.328+36A>G (n.328+36A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.50911148G>A | CA2693751412 | BMP15 | c.328+37G>A (n.328+37G>A)
| gnomAD v4 |
| X | g.50911148G>C | CA2693751413 | BMP15 | c.328+37G>C (n.328+37G>C)
| gnomAD v4 |
| X | g.50911149A>C | CA657965533 | BMP15 | c.328+38A>C (n.328+38A>C)
| COSMIC |
| X | g.50911149A>G | CA2579612640 | BMP15 | c.328+38A>G (n.328+38A>G)
| |
| X | g.50911150G>A | CA2579612641 | BMP15 | c.328+39G>A (n.328+39G>A)
| |
| X | g.50911153G>A | CA2693751414 | BMP15 | c.328+42G>A (n.328+42G>A)
| gnomAD v4 |
| X | g.50911153G>C | CA2820880786 | BMP15 | c.328+42G>C (n.328+42G>C)
| |
| X | g.50911154T>C | CA641906339 | BMP15 | c.328+43T>C (n.328+43T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50911154T= | CA2429024051 | BMP15 | c.328+43T= (n.328+43T=)
| |
| X | g.50911155G>A | CA2693751415 | BMP15 | c.328+44G>A (n.328+44G>A)
| gnomAD v4 |
| X | g.50911161_50911170dup | CA2693751416 | BMP15 | c.328+50_328+59dup (n.328+50_328+59dup)
| gnomAD v4 |
| X | g.50911160G>A | CA2693751417 | BMP15 | c.328+49G>A (n.328+49G>A)
| gnomAD v4 |
| X | g.50911160G>T | CA2693751418 | BMP15 | c.328+49G>T (n.328+49G>T)
| gnomAD v4 |
| X | g.50911161G>A | CA2429024053 | BMP15 | c.328+50G>A (n.328+50G>A)
| dbSNP gnomAD v4 |
| X | g.50911161G= | CA2429024052 | BMP15 | c.328+50G= (n.328+50G=)
| |
| X | g.50911162A= | CA2429024054 | BMP15 | c.328+51A= (n.328+51A=)
| |
| X | g.50911162A>G | CA641906341 | BMP15 | c.328+51A>G (n.328+51A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50911164T>G | CA2693751419 | BMP15 | c.328+53T>G (n.328+53T>G)
| gnomAD v4 |
| X | g.50911166T>G | CA2429024056 | BMP15 | c.328+55T>G (n.328+55T>G)
| dbSNP |
| X | g.50911166T= | CA2429024055 | BMP15 | c.328+55T= (n.328+55T=)
| |
| X | g.50911168G>C | CA876101742 | BMP15 | c.328+57G>C (n.328+57G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.50911168G= | CA2429024057 | BMP15 | c.328+57G= (n.328+57G=)
| |
| X | g.50911168G>T | CA657965535 | BMP15 | c.328+57G>T (n.328+57G>T)
| COSMIC |
| X | g.50911170G>A | CA2527663480 | BMP15 | c.328+59G>A (n.328+59G>A)
| |
| X | g.50911170G>C | CA329809488 | BMP15 | c.328+59G>C (n.328+59G>C)
| dbSNP gnomAD v4 |
| X | g.50911170G= | CA2429024058 | BMP15 | c.328+59G= (n.328+59G=)
| |
| X | g.50911172A>C | CA2579612642 | BMP15 | c.328+61A>C (n.328+61A>C)
| |
| X | g.50911174A= | CA2429024059 | BMP15 | c.328+63A= (n.328+63A=)
| |
| X | g.50911174A>C | CA2693751420 | BMP15 | c.328+63A>C (n.328+63A>C)
| gnomAD v4 |
| X | g.50911174A>G | CA1133041988 | BMP15 | c.328+63A>G (n.328+63A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.50911178_50911187del | CA2579612643 | BMP15 | c.328+67_328+76del (n.328+67_328+76del)
| |
| X | g.50911177G>A | CA2693751421 | BMP15 | c.328+66G>A (n.328+66G>A)
| gnomAD v4 |
| X | g.50911178A= | CA2429024060 | BMP15 | c.328+67A= (n.328+67A=)
| |
| X | g.50911178A>T | CA2429024061 | BMP15 | c.328+67A>T (n.328+67A>T)
| dbSNP gnomAD v4 |
| X | g.50911179A>C | CA2820880788 | BMP15 | c.328+68A>C (n.328+68A>C)
| |
| X | g.50911179A>G | CA2693751422 | BMP15 | c.328+68A>G (n.328+68A>G)
| gnomAD v4 |
| X | g.50911179_50911180delinsAT | CA2429024062 | BMP15 | c.328+68_328+69delinsAT (n.328+68_328+69delinsAT)
| |
| X | g.50911180T>C | CA2693751423 | BMP15 | c.328+69T>C (n.328+69T>C)
| dbSNP gnomAD v4 |
| X | g.50911181del | CA329809489 | BMP15 | c.328+70del (n.328+70del)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.50911180_50911183delinsTTGG | CA2429024063 | BMP15 | c.328+69_328+72delinsTTGG (n.328+69_328+72delinsTTGG)
| |
| X | g.50911181T>C | CA2693751424 | BMP15 | c.328+70T>C (n.328+70T>C)
| gnomAD v4 |
| X | g.50911184_50911186del | CA1133041989 | BMP15 | c.328+73_328+75del (n.328+73_328+75del)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.50911182G>T | CA657965539 | BMP15 | c.328+71G>T (n.328+71G>T)
| COSMIC |
| X | g.50911183G>C | CA2820880789 | BMP15 | c.328+72G>C (n.328+72G>C)
| |
