2 | g.202369396_202377723del | CA1139657640 | | | ClinVar |
2 | g.202373247_202381017del | CA915942366 | | | ClinVar |
2 | g.202377397_202377405del | CA2662703773 | BMPR2 | c.-78_-70del (n.-78_-70del)
| gnomAD v4 |
2 | g.202377398G>A | CA2577215457 | BMPR2 | c.-77G>A (n.-77G>A)
| gnomAD v4 |
2 | g.202377398G>T | CA2662703775 | BMPR2 | c.-77G>T (n.-77G>T)
| gnomAD v4 |
2 | g.202377400C= | CA1321474614 | BMPR2 | c.-75C= (n.-75C=)
| |
2 | g.202377400C>G | CA2662703776 | BMPR2 | c.-75C>G (n.-75C>G)
| gnomAD v4 |
2 | g.202377400C>T | CA64522352 | BMPR2 | c.-75C>T (n.-75C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377401T>G | CA2662703777 | BMPR2 | c.-74T>G (n.-74T>G)
| gnomAD v4 |
2 | g.202377403C>A | CA2662703778 | BMPR2 | c.-72C>A (n.-72C>A)
| gnomAD v4 |
2 | g.202377403C>G | CA2662703779 | BMPR2 | c.-72C>G (n.-72C>G)
| gnomAD v4 |
2 | g.202377403C>T | CA2662703780 | BMPR2 | c.-72C>T (n.-72C>T)
| gnomAD v4 |
2 | g.202377404C= | CA1321474615 | BMPR2 | c.-71C= (n.-71C=)
| |
2 | g.202377404C>T | CA1321474616 | BMPR2 | c.-71C>T (n.-71C>T)
| dbSNP gnomAD v4 |
2 | g.202377405G>A | CA2662703781 | BMPR2 | c.-70G>A (n.-70G>A)
| gnomAD v4 |
2 | g.202377405G= | CA1321474617 | BMPR2 | c.-70G= (n.-70G=)
| |
2 | g.202377405G>T | CA10612485 | BMPR2 | c.-70G>T (n.-70G>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377406G>A | CA2577215458 | BMPR2 | c.-69G>A (n.-69G>A)
| gnomAD v4 |
2 | g.202377407C>A | CA2662703782 | BMPR2 | c.-68C>A (n.-68C>A)
| gnomAD v4 |
2 | g.202377407C>T | CA2662703783 | BMPR2 | c.-68C>T (n.-68C>T)
| gnomAD v4 |
2 | g.202377409G>C | CA2662703784 | BMPR2 | c.-66G>C (n.-66G>C)
| gnomAD v4 |
2 | g.202377411T>A | CA763418917 | BMPR2 | c.-64T>A (n.-64T>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377411T>G | CA2662703785 | BMPR2 | c.-64T>G (n.-64T>G)
| gnomAD v4 |
2 | g.202377411T= | CA1321474618 | BMPR2 | c.-64T= (n.-64T=)
| |
2 | g.202377412T>C | CA2662703787 | BMPR2 | c.-63T>C (n.-63T>C)
| gnomAD v4 |
2 | g.202377414_202377452dup | CA2662703786 | BMPR2 | c.-61_-23dup (n.-61_-23dup)
| gnomAD v4 |
2 | g.202377413C>A | CA763418919 | BMPR2 | c.-62C>A (n.-62C>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377413C= | CA1321474619 | BMPR2 | c.-62C= (n.-62C=)
| |
2 | g.202377413C>T | CA2662703788 | BMPR2 | c.-62C>T (n.-62C>T)
| gnomAD v4 |
2 | g.202377414T>A | CA2662703789 | BMPR2 | c.-61T>A (n.-61T>A)
| gnomAD v4 |
2 | g.202377415C>T | CA2662703790 | BMPR2 | c.-60C>T (n.-60C>T)
| gnomAD v4 |
2 | g.202377416C= | CA1321474620 | BMPR2 | c.-59C= (n.-59C=)
| |
2 | g.202377416C>T | CA1321474621 | BMPR2 | c.-59C>T (n.-59C>T)
| dbSNP gnomAD v4 |
2 | g.202377417G>C | CA763418920 | BMPR2 | c.-58G>C (n.-58G>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377417G= | CA1321474622 | BMPR2 | c.-58G= (n.-58G=)
| |
2 | g.202377417G>T | CA2662703791 | BMPR2 | c.-58G>T (n.-58G>T)
| gnomAD v4 |
2 | g.202377419C= | CA1321474623 | BMPR2 | c.-56C= (n.-56C=)
| |
2 | g.202377419C>G | CA1041327484 | BMPR2 | c.-56C>G (n.-56C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377419C>T | CA1321474624 | BMPR2 | c.-56C>T (n.-56C>T)
| dbSNP gnomAD v4 |
2 | g.202377420G>C | CA539001087 | BMPR2 | c.-55G>C (n.-55G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377420G= | CA1321474625 | BMPR2 | c.-55G= (n.-55G=)
| |
2 | g.202377420G>T | CA2568242418 | BMPR2 | c.-55G>T (n.-55G>T)
| gnomAD v4 |
2 | g.202377421G>A | CA2662703792 | BMPR2 | c.-54G>A (n.-54G>A)
| gnomAD v4 |
2 | g.202377423C= | CA1321474626 | BMPR2 | c.-52C= (n.-52C=)
| |
2 | g.202377423C>G | CA1321474627 | BMPR2 | c.-52C>G (n.-52C>G)
| dbSNP |
2 | g.202377423C>T | CA1321474628 | BMPR2 | c.-52C>T (n.-52C>T)
| dbSNP gnomAD v4 |
2 | g.202377425_202377427dup | CA2662703793 | BMPR2 | c.-50_-48dup (n.-50_-48dup)
| gnomAD v4 |
2 | g.202377425A= | CA1321474629 | BMPR2 | c.-50A= (n.-50A=)
| |
2 | g.202377425A>G | CA539001088 | BMPR2 | c.-50A>G (n.-50A>G)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.202377426C>A | CA2662703794 | BMPR2 | c.-49C>A (n.-49C>A)
| gnomAD v4 |
2 | g.202377426_202377427delinsCT | CA1321474630 | BMPR2 | c.-49_-48delinsCT (n.-49_-48delinsCT)
| |
2 | g.202377427T>G | CA2662703795 | BMPR2 | c.-48T>G (n.-48T>G)
| gnomAD v4 |
2 | g.202377428del | CA64522353 | BMPR2 | c.-47del (n.-47del)
| dbSNP |
2 | g.202377429C>A | CA1321474632 | BMPR2 | c.-46C>A (n.-46C>A)
| dbSNP gnomAD v4 |
2 | g.202377429C= | CA1321474631 | BMPR2 | c.-46C= (n.-46C=)
| |
2 | g.202377429C>T | CA64522354 | BMPR2 | c.-46C>T (n.-46C>T)
| dbSNP gnomAD v4 |
2 | g.202377430C= | CA1321474633 | BMPR2 | c.-45C= (n.-45C=)
| |
2 | g.202377430C>T | CA2060984 | BMPR2 | c.-45C>T (n.-45C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377431C>A | CA2753901600 | BMPR2 | c.-44C>A (n.-44C>A)
| |
2 | g.202377431C>T | CA2701421693 | BMPR2 | c.-44C>T (n.-44C>T)
| dbSNP |
2 | g.202377432A= | CA1321474635 | BMPR2 | c.-43A= (n.-43A=)
| |
2 | g.202377432A>G | CA1321474634 | BMPR2 | c.-43A>G (n.-43A>G)
| dbSNP gnomAD v4 |
2 | g.202377433T>G | CA2662703796 | BMPR2 | c.-42T>G (n.-42T>G)
| gnomAD v4 |
2 | g.202377435T>G | CA2060985 | BMPR2 | c.-40T>G (n.-40T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377435T= | CA1321474636 | BMPR2 | c.-40T= (n.-40T=)
| |
2 | g.202377438C>A | CA430892833 | BMPR2 | c.-37C>A (n.-37C>A)
| gnomAD v4 |
2 | g.202377438_202377439delinsCT | CA1321474637 | BMPR2 | c.-37_-36delinsCT (n.-37_-36delinsCT)
| |
2 | g.202377439T>G | CA2577215459 | BMPR2 | c.-36T>G (n.-36T>G)
| |
2 | g.202377442del | CA2060986 | BMPR2 | c.-33del (n.-33del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377441T>C | CA64522355 | BMPR2 | c.-34T>C (n.-34T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377441T= | CA1321474638 | BMPR2 | c.-34T= (n.-34T=)
| |
2 | g.202377442T>C | CA763418932 | BMPR2 | c.-33T>C (n.-33T>C)
| dbSNP gnomAD v4 |
2 | g.202377442T>G | CA2662703797 | BMPR2 | c.-33T>G (n.-33T>G)
| gnomAD v4 |
2 | g.202377442T= | CA1321474639 | BMPR2 | c.-33T= (n.-33T=)
| |
2 | g.202377443C>A | CA64522356 | BMPR2 | c.-32C>A (n.-32C>A)
| dbSNP gnomAD v4 |
2 | g.202377443C= | CA1321474641 | BMPR2 | c.-32C= (n.-32C=)
| |
2 | g.202377443C>T | CA1321474640 | BMPR2 | c.-32C>T (n.-32C>T)
| dbSNP gnomAD v4 |
2 | g.202377446_202377447insTAC | CA2572460301 | BMPR2 | c.-29_-28insTAC (n.-29_-28insTAC)
| |
2 | g.202377447del | CA2662703798 | BMPR2 | c.-28del (n.-28del)
| gnomAD v4 |
2 | g.202377447G>T | CA2527217236 | BMPR2 | c.-28G>T (n.-28G>T)
| |
2 | g.202377448C>A | CA2662703799 | BMPR2 | c.-27C>A (n.-27C>A)
| gnomAD v4 |
2 | g.202377448C= | CA1321474642 | BMPR2 | c.-27C= (n.-27C=)
| |
2 | g.202377448C>G | CA1321474643 | BMPR2 | c.-27C>G (n.-27C>G)
| dbSNP |
2 | g.202377448C>T | CA2060987 | BMPR2 | c.-27C>T (n.-27C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377449C>A | CA2662703800 | BMPR2 | c.-26C>A (n.-26C>A)
| gnomAD v4 |
2 | g.202377449C= | CA1321474644 | BMPR2 | c.-26C= (n.-26C=)
| |
2 | g.202377449C>G | CA2662703801 | BMPR2 | c.-26C>G (n.-26C>G)
| gnomAD v4 |
2 | g.202377449C>T | CA2060988 | BMPR2 | c.-26C>T (n.-26C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377450C>A | CA2526857053 | BMPR2 | c.-25C>A (n.-25C>A)
| |
2 | g.202377450C= | CA1321474645 | BMPR2 | c.-25C= (n.-25C=)
| |
2 | g.202377450C>G | CA1321474646 | BMPR2 | c.-25C>G (n.-25C>G)
| dbSNP |
2 | g.202377450C>T | CA763418934 | BMPR2 | c.-25C>T (n.-25C>T)
| dbSNP gnomAD v4 |
2 | g.202377450_202377451delinsCT | CA1321474647 | BMPR2 | c.-25_-24delinsCT (n.-25_-24delinsCT)
| |
2 | g.202377451del | CA430892841 | BMPR2 | c.-24del (n.-24del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377451T>A | CA1041327497 | BMPR2 | c.-24T>A (n.-24T>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377451T= | CA1321474648 | BMPR2 | c.-24T= (n.-24T=)
| |
2 | g.202377451dup | CA647622009 | BMPR2 | c.-24dup (n.-24dup)
| COSMIC |
2 | g.202377452C= | CA1321474649 | BMPR2 | c.-23C= (n.-23C=)
| |
2 | g.202377452C>T | CA539001095 | BMPR2 | c.-23C>T (n.-23C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.202377453C>G | CA2577215460 | BMPR2 | c.-22C>G (n.-22C>G)
| |
2 | g.202377455G>A | CA2060989 | BMPR2 | c.-20G>A (n.-20G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202377455G>C | CA64522357 | BMPR2 | c.-20G>C (n.-20G>C)
| dbSNP |
2 | g.202377455G= | CA1321474650 | BMPR2 | c.-20G= (n.-20G=)
| |
2 | g.202377455G>T | CA2662703802 | BMPR2 | c.-20G>T (n.-20G>T)
| gnomAD v4 |
2 | g.202377457T>C | CA2060990 | BMPR2 | c.-18T>C (n.-18T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202377457T= | CA1321474651 | BMPR2 | c.-18T= (n.-18T=)
| |
2 | g.202377459C= | CA1321474652 | BMPR2 | c.-16C= (n.-16C=)
| |
2 | g.202377459C>T | CA1321474653 | BMPR2 | c.-16C>T (n.-16C>T)
| dbSNP |
2 | g.202377459_202377460insG | CA647622011 | BMPR2 | c.-16_-15insG (n.-16_-15insG)
| COSMIC |
2 | g.202377460T>C | CA2662703803 | BMPR2 | c.-15T>C (n.-15T>C)
| gnomAD v4 |
2 | g.202377461T>C | CA2662703804 | BMPR2 | c.-14T>C (n.-14T>C)
| gnomAD v4 |
2 | g.202377462G>A | CA2577215461 | BMPR2 | c.-13G>A (n.-13G>A)
| |
2 | g.202377463G>A | CA64522358 | BMPR2 | c.-12G>A (n.-12G>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.202377463G= | CA1321474654 | BMPR2 | c.-12G= (n.-12G=)
| |
2 | g.202377463G>T | CA2060991 | BMPR2 | c.-12G>T (n.-12G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202377464C= | CA1321474655 | BMPR2 | c.-11C= (n.-11C=)
| |
2 | g.202377464C>T | CA2060992 | BMPR2 | c.-11C>T (n.-11C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202377465T>A | CA2662703805 | BMPR2 | c.-10T>A (n.-10T>A)
| gnomAD v4 |
2 | g.202377465T>C | CA2662703806 | BMPR2 | c.-10T>C (n.-10T>C)
| gnomAD v4 |
2 | g.202377465T>G | CA2662703807 | BMPR2 | c.-10T>G (n.-10T>G)
| gnomAD v4 |
2 | g.202377467G= | CA1321474656 | BMPR2 | c.-8G= (n.-8G=)
| |
2 | g.202377467G>T | CA2060993 | BMPR2 | c.-8G>T (n.-8G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377469C= | CA1321474657 | BMPR2 | c.-6C= (n.-6C=)
| |
2 | g.202377469C>T | CA539001101 | BMPR2 | c.-6C>T (n.-6C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.202377470C= | CA1321474659 | BMPR2 | c.-5C= (n.-5C=)
| |
2 | g.202377470C>T | CA1321474658 | BMPR2 | c.-5C>T (n.-5C>T)
| dbSNP gnomAD v4 |
2 | g.202377471A= | CA1321474660 | BMPR2 | c.-4A= (n.-4A=)
| |
2 | g.202377471A>G | CA2060994 | BMPR2 | c.-4A>G (n.-4A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202377472G>T | CA2577215462 | BMPR2 | c.-3G>T (n.-3G>T)
| |
2 | g.202377473G>A | CA539001105 | BMPR2 | c.-2G>A (n.-2G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377473G= | CA1321474661 | BMPR2 | c.-2G= (n.-2G=)
| |
2 | g.202377474G>C | CA2662703808 | BMPR2 | c.-1G>C (n.-1G>C)
| gnomAD v4 |
2 | g.202377475A>C | CA350396499 | BMPR2 | c.1A>C (p.Met1Leu)
| |
2 | g.202377475A>G | CA350396501 | BMPR2 | c.1A>G (p.Met1Val)
| |
2 | g.202377475A>T | CA350396502 | BMPR2 | c.1A>T (p.Met1Leu)
| |
2 | g.202377476T>A | CA350396507 | BMPR2 | c.2T>A (p.Met1Lys)
| |
2 | g.202377476T>C | CA350396508 | BMPR2 | c.2T>C (p.Met1Thr)
| |
2 | g.202377476T>G | CA350396505 | BMPR2 | c.2T>G (p.Met1Arg)
| |
2 | g.202377477G>A | CA350396511 | BMPR2 | c.3G>A (p.Met1Ile)
| |
2 | g.202377477G>C | CA350396513 | BMPR2 | c.3G>C (p.Met1Ile)
| |
2 | g.202377477G>T | CA350396514 | BMPR2 | c.3G>T (p.Met1Ile)
| |
2 | g.202377478A= | CA1321474662 | BMPR2 | c.4A= (p.Thr2=)
| |
2 | g.202377478A>C | CA350396517 | BMPR2 | c.4A>C (p.Thr2Pro)
| |
2 | g.202377478A>G | CA350396519 | BMPR2 | c.4A>G (p.Thr2Ala)
| gnomAD v4 |
2 | g.202377478A>T | CA350396520 | BMPR2 | c.4A>T (p.Thr2Ser)
| dbSNP |
2 | g.202377479C>A | CA350396523 | BMPR2 | c.5C>A (p.Thr2Asn)
| |
2 | g.202377479C>G | CA350396525 | BMPR2 | c.5C>G (p.Thr2Ser)
| gnomAD v4 |
2 | g.202377479C>T | CA350396526 | BMPR2 | c.5C>T (p.Thr2Ile)
| |
2 | g.202377480T>A | CA430892879 | BMPR2 | c.6T>A (p.Thr2=)
| |
2 | g.202377480T>C | CA430892881 | BMPR2 | c.6T>C (p.Thr2=)
| |
2 | g.202377480T>G | CA430892882 | BMPR2 | c.6T>G (p.Thr2=)
| |
2 | g.202377481del | CA2586970989 | BMPR2 | c.7del (p.Ser3ProfsTer?)
| |
2 | g.202377481T>A | CA350396529 | BMPR2 | c.7T>A (p.Ser3Thr)
| |
2 | g.202377481T>C | CA2060995 | BMPR2 | c.7T>C (p.Ser3Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202377481T>G | CA350396531 | BMPR2 | c.7T>G (p.Ser3Ala)
| |
2 | g.202377481T= | CA1321474663 | BMPR2 | c.7T= (p.Ser3=)
| |
2 | g.202377482C>A | CA350396534 | BMPR2 | c.8C>A (p.Ser3Tyr)
| |
2 | g.202377482C>G | CA350396535 | BMPR2 | c.8C>G (p.Ser3Cys)
| |
2 | g.202377482C>T | CA350396537 | BMPR2 | c.8C>T (p.Ser3Phe)
| |
2 | g.202377483dup | CA645293855 | BMPR2 | c.9dup (p.Ser4LeufsTer?)
| ClinVar dbSNP |
2 | g.202377483C>A | CA2060996 | BMPR2 | c.9C>A (p.Ser3=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377483C= | CA1321474664 | BMPR2 | c.9C= (p.Ser3=)
| |
2 | g.202377483C>G | CA430892895 | BMPR2 | c.9C>G (p.Ser3=)
| |
2 | g.202377483C>T | CA430892898 | BMPR2 | c.9C>T (p.Ser3=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377484_202377485dup | CA658761128 | BMPR2 | c.10_11dup (p.Leu5ArgfsTer?)
| |
2 | g.202377484T>A | CA350396541 | BMPR2 | c.10T>A (p.Ser4Thr)
| |
2 | g.202377484T>C | CA350396543 | BMPR2 | c.10T>C (p.Ser4Pro)
| |
2 | g.202377484T>G | CA350396544 | BMPR2 | c.10T>G (p.Ser4Ala)
| |
2 | g.202377485C>A | CA350396547 | BMPR2 | c.11C>A (p.Ser4Ter)
| |
2 | g.202377485C= | CA1321474665 | BMPR2 | c.11C= (p.Ser4=)
| |
2 | g.202377485C>G | CA350396548 | BMPR2 | c.11C>G (p.Ser4Trp)
| |
2 | g.202377485C>T | CA64522359 | BMPR2 | c.11C>T (p.Ser4Leu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.202377485_202377486delinsCG | CA1321474666 | BMPR2 | c.11_12delinsCG (p.Ser4=)
| |
2 | g.202377486del | CA1139657642 | BMPR2 | c.12del (p.Leu5CysfsTer?)
| ClinVar dbSNP |
2 | g.202377486G>A | CA430892914 | BMPR2 | c.12G>A (p.Ser4=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377486G>C | CA430892915 | BMPR2 | c.12G>C (p.Ser4=)
| gnomAD v4 |
2 | g.202377486G= | CA1321474667 | BMPR2 | c.12G= (p.Ser4=)
| |
2 | g.202377486G>T | CA430892909 | BMPR2 | c.12G>T (p.Ser4=)
| |
2 | g.202377487C>A | CA350396552 | BMPR2 | c.13C>A (p.Leu5Met)
| |
2 | g.202377487C>G | CA350396554 | BMPR2 | c.13C>G (p.Leu5Val)
| |
2 | g.202377487C>T | CA430892920 | BMPR2 | c.13C>T (p.Leu5=)
| |
2 | g.202377488T>A | CA350396556 | BMPR2 | c.14T>A (p.Leu5Gln)
| |
2 | g.202377488T>C | CA350396558 | BMPR2 | c.14T>C (p.Leu5Pro)
| ClinVar |
2 | g.202377488T>G | CA350396559 | BMPR2 | c.14T>G (p.Leu5Arg)
| dbSNP gnomAD v4 |
2 | g.202377488T= | CA1321474668 | BMPR2 | c.14T= (p.Leu5=)
| |
2 | g.202377488_202377493delinsTGCAGC | CA1321474669 | BMPR2 | c.14_19delinsTGCAGC (p.Leu5=)
| |
2 | g.202377489G>A | CA430892926 | BMPR2 | c.15G>A (p.Leu5=)
| dbSNP |
2 | g.202377489G>C | CA430892928 | BMPR2 | c.15G>C (p.Leu5=)
| |
2 | g.202377489G>T | CA430892930 | BMPR2 | c.15G>T (p.Leu5=)
| |
2 | g.202377490_202377494del | CA645293856 | BMPR2 | c.16_20del (p.Gln6AlafsTer30)
| ClinVar dbSNP |
2 | g.202377490C>A | CA350396562 | BMPR2 | c.16C>A (p.Gln6Lys)
| |
2 | g.202377490C= | CA1321474670 | BMPR2 | c.16C= (p.Gln6=)
| |
2 | g.202377490C>G | CA350396564 | BMPR2 | c.16C>G (p.Gln6Glu)
| |
2 | g.202377490C>T | CA10587991 | BMPR2 | c.16C>T (p.Gln6Ter)
| ClinVar dbSNP COSMIC |
2 | g.202377491A>C | CA350396566 | BMPR2 | c.17A>C (p.Gln6Pro)
| |
2 | g.202377491A>G | CA350396570 | BMPR2 | c.17A>G (p.Gln6Arg)
| |
2 | g.202377491A>T | CA350396569 | BMPR2 | c.17A>T (p.Gln6Leu)
| |
2 | g.202377492G>A | CA430892941 | BMPR2 | c.18G>A (p.Gln6=)
| gnomAD v4 |
2 | g.202377492G>C | CA350396573 | BMPR2 | c.18G>C (p.Gln6His)
| |
2 | g.202377492G>T | CA350396574 | BMPR2 | c.18G>T (p.Gln6His)
| |
2 | g.202377492_202377493delinsGC | CA1321474671 | BMPR2 | c.18_19delinsGC (p.Gln6=)
| |
2 | g.202377493del | CA915942367 | BMPR2 | c.19del (p.Arg7GlyfsTer?)
| ClinVar dbSNP |
2 | g.202377493C>A | CA2060997 | BMPR2 | c.19C>A (p.Arg7=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202377493C= | CA1321474672 | BMPR2 | c.19C= (p.Arg7=)
| |
2 | g.202377493C>G | CA350396577 | BMPR2 | c.19C>G (p.Arg7Gly)
| gnomAD v4 |
2 | g.202377493C>T | CA350396579 | BMPR2 | c.19C>T (p.Arg7Trp)
| gnomAD v4 |
2 | g.202377493_202377494delinsCG | CA1321474673 | BMPR2 | c.19_20delinsCG (p.Arg7=)
| |
2 | g.202377494G>A | CA350396585 | BMPR2 | c.20G>A (p.Arg7Gln)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.202377494G>C | CA350396583 | BMPR2 | c.20G>C (p.Arg7Pro)
| |
2 | g.202377494G= | CA1321474675 | BMPR2 | c.20G= (p.Arg7=)
| |
2 | g.202377494G>T | CA350396581 | BMPR2 | c.20G>T (p.Arg7Leu)
| |
2 | g.202377495del | CA645293857 | BMPR2 | c.21del (p.Trp9GlyfsTer?)
| ClinVar dbSNP |
2 | g.202377494_202377503delinsGGCCCTGGCG | CA1321474674 | BMPR2 | c.20_29delinsGGCCCTGGCG (p.Arg7=)
| |
2 | g.202377495G>A | CA64522360 | BMPR2 | c.21G>A (p.Arg7=)
| dbSNP gnomAD v4 |
2 | g.202377495G>C | CA430892954 | BMPR2 | c.21G>C (p.Arg7=)
| |
2 | g.202377495G= | CA1321474676 | BMPR2 | c.21G= (p.Arg7=)
| |
2 | g.202377495G>T | CA430892956 | BMPR2 | c.21G>T (p.Arg7=)
| |
2 | g.202377495_202377503delinsA | CA645293858 | BMPR2 | c.21_29delinsA (p.Pro8GlyfsTer27)
| ClinVar dbSNP |
2 | g.202377496C>A | CA350396586 | BMPR2 | c.22C>A (p.Pro8Thr)
| gnomAD v4 |
2 | g.202377496C>G | CA350396587 | BMPR2 | c.22C>G (p.Pro8Ala)
| |
2 | g.202377496C>T | CA350396589 | BMPR2 | c.22C>T (p.Pro8Ser)
| gnomAD v4 |
2 | g.202377497C>A | CA350396591 | BMPR2 | c.23C>A (p.Pro8His)
| |
2 | g.202377497C>G | CA350396593 | BMPR2 | c.23C>G (p.Pro8Arg)
| |
2 | g.202377497C>T | CA350396594 | BMPR2 | c.23C>T (p.Pro8Leu)
| gnomAD v4 COSMIC |
2 | g.202377497_202377513delinsCCTGGCGGGTGCCCTGG | CA1321474677 | BMPR2 | c.23_39delinsCCTGGCGGGTGCCCTGG (p.Pro8=)
| |
2 | g.202377498C>A | CA430892967 | BMPR2 | c.24C>A (p.Pro8=)
| |
2 | g.202377498C= | CA1321474678 | BMPR2 | c.24C= (p.Pro8=)
| |
2 | g.202377498C>G | CA430892968 | BMPR2 | c.24C>G (p.Pro8=)
| |
2 | g.202377498C>T | CA430892970 | BMPR2 | c.24C>T (p.Pro8=)
| dbSNP |
2 | g.202377500_202377515del | CA915942368 | BMPR2 | c.26_41del (p.Trp9TyrfsTer?)
| ClinVar dbSNP |