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.202514806_202514823delinsTAAGTGTAATATTATAAA | CA1321537800 | BMPR2 | c.530-82_530-65delinsTAAGTGTAATATTATAAA (n.530-82_530-65delinsTAAGTGTAATATTATAAA) c.461-82_461-65delinsTAAGTGTAATATTATAAA (n.461-82_461-65delinsTAAGTGTAATATTATAAA) | |
2 | g.202514807A= | CA1321537801 | BMPR2 | c.530-81A= (n.530-81A=) c.461-81A= (n.461-81A=) | |
2 | g.202514807A>G | CA538970277 | BMPR2 | c.530-81A>G (n.530-81A>G) c.461-81A>G (n.461-81A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514807A>T | CA2577215558 | BMPR2 | c.530-81A>T (n.530-81A>T) c.461-81A>T (n.461-81A>T) | gnomAD v4 |
2 | g.202514815_202514831del | CA1041339644 | BMPR2 | c.530-73_530-57del (n.530-73_530-57del) c.461-73_461-57del (n.461-73_461-57del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514808A>G | CA2662705476 | BMPR2 | c.530-80A>G (n.530-80A>G) c.461-80A>G (n.461-80A>G) | gnomAD v4 |
2 | g.202514809G>A | CA538970279 | BMPR2 | c.530-79G>A (n.530-79G>A) c.461-79G>A (n.461-79G>A) | dbSNP gnomAD v2 |
2 | g.202514809G= | CA1321537802 | BMPR2 | c.530-79G= (n.530-79G=) c.461-79G= (n.461-79G=) | |
2 | g.202514809G>T | CA2662705478 | BMPR2 | c.530-79G>T (n.530-79G>T) c.461-79G>T (n.461-79G>T) | gnomAD v4 |
2 | g.202514811_202514812del | CA2662705477 | BMPR2 | c.530-77_530-76del (n.530-77_530-76del) c.461-77_461-76del (n.461-77_461-76del) | gnomAD v4 |
2 | g.202514810T>C | CA2662705479 | BMPR2 | c.530-78T>C (n.530-78T>C) c.461-78T>C (n.461-78T>C) | gnomAD v4 |
2 | g.202514811G>A | CA1041339649 | BMPR2 | c.530-77G>A (n.530-77G>A) c.461-77G>A (n.461-77G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514811G= | CA1321537803 | BMPR2 | c.530-77G= (n.530-77G=) c.461-77G= (n.461-77G=) | |
2 | g.202514813A>C | CA2577215559 | BMPR2 | c.530-75A>C (n.530-75A>C) c.461-75A>C (n.461-75A>C) | |
2 | g.202514814del | CA2662705480 | BMPR2 | c.530-74del (n.530-74del) c.461-74del (n.461-74del) | gnomAD v4 |
2 | g.202514814A>C | CA2662705481 | BMPR2 | c.530-74A>C (n.530-74A>C) c.461-74A>C (n.461-74A>C) | gnomAD v4 |
2 | g.202514817T>C | CA2662705482 | BMPR2 | c.530-71T>C (n.530-71T>C) c.461-71T>C (n.461-71T>C) | gnomAD v4 |
2 | g.202514818T>G | CA1041339650 | BMPR2 | c.530-70T>G (n.530-70T>G) c.461-70T>G (n.461-70T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514818T= | CA1321537804 | BMPR2 | c.530-70T= (n.530-70T=) c.461-70T= (n.461-70T=) | |
2 | g.202514819A>G | CA2577215560 | BMPR2 | c.530-69A>G (n.530-69A>G) c.461-69A>G (n.461-69A>G) | |
2 | g.202514820T>C | CA64012765 | BMPR2 | c.530-68T>C (n.530-68T>C) c.461-68T>C (n.461-68T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514820T= | CA1321537805 | BMPR2 | c.530-68T= (n.530-68T=) c.461-68T= (n.461-68T=) | |
2 | g.202514821A= | CA1321537806 | BMPR2 | c.530-67A= (n.530-67A=) c.461-67A= (n.461-67A=) | |
2 | g.202514821A>G | CA763445951 | BMPR2 | c.530-67A>G (n.530-67A>G) c.461-67A>G (n.461-67A>G) | dbSNP |
2 | g.202514825del | CA2662705484 | BMPR2 | c.530-63del (n.530-63del) c.461-63del (n.461-63del) | gnomAD v4 |
2 | g.202514824_202514834del | CA2662705483 | BMPR2 | c.530-64_530-54del (n.530-64_530-54del) c.461-64_461-54del (n.461-64_461-54del) | gnomAD v4 |
2 | g.202514823A>G | CA2662705485 | BMPR2 | c.530-65A>G (n.530-65A>G) c.461-65A>G (n.461-65A>G) | gnomAD v4 |
2 | g.202514824A>C | CA2577215561 | BMPR2 | c.530-64A>C (n.530-64A>C) c.461-64A>C (n.461-64A>C) | |
2 | g.202514825A>G | CA2662705486 | BMPR2 | c.530-63A>G (n.530-63A>G) c.461-63A>G (n.461-63A>G) | gnomAD v4 |
2 | g.202514826G>A | CA2577215562 | BMPR2 | c.530-62G>A (n.530-62G>A) c.461-62G>A (n.461-62G>A) | gnomAD v4 |
2 | g.202514827T>C | CA2662705487 | BMPR2 | c.530-61T>C (n.530-61T>C) c.461-61T>C (n.461-61T>C) | gnomAD v4 |
2 | g.202514828G>A | CA763445952 | BMPR2 | c.530-60G>A (n.530-60G>A) c.461-60G>A (n.461-60G>A) | dbSNP gnomAD v4 |
2 | g.202514828G= | CA1321537807 | BMPR2 | c.530-60G= (n.530-60G=) c.461-60G= (n.461-60G=) | |
2 | g.202514834del | CA2662705488 | BMPR2 | c.530-54del (n.530-54del) c.461-54del (n.461-54del) | gnomAD v4 |
2 | g.202514833_202514834del | CA2577215563 | BMPR2 | c.530-55_530-54del (n.530-55_530-54del) c.461-55_461-54del (n.461-55_461-54del) | |
2 | g.202514831A>C | CA2753905537 | BMPR2 | c.530-57A>C (n.530-57A>C) c.461-57A>C (n.461-57A>C) | |
2 | g.202514834A= | CA1321537808 | BMPR2 | c.530-54A= (n.530-54A=) c.461-54A= (n.461-54A=) | |
2 | g.202514834A>G | CA2662705489 | BMPR2 | c.530-54A>G (n.530-54A>G) c.461-54A>G (n.461-54A>G) | gnomAD v4 |
2 | g.202514834A>T | CA1321537809 | BMPR2 | c.530-54A>T (n.530-54A>T) c.461-54A>T (n.461-54A>T) | dbSNP gnomAD v4 |
2 | g.202514835G>A | CA2577215564 | BMPR2 | c.530-53G>A (n.530-53G>A) c.461-53G>A (n.461-53G>A) | |
2 | g.202514835G= | CA1321537810 | BMPR2 | c.530-53G= (n.530-53G=) c.461-53G= (n.461-53G=) | |
2 | g.202514835G>T | CA1321537811 | BMPR2 | c.530-53G>T (n.530-53G>T) c.461-53G>T (n.461-53G>T) | dbSNP gnomAD v4 |
2 | g.202514836del | CA2662705490 | BMPR2 | c.530-52del (n.530-52del) c.461-52del (n.461-52del) | gnomAD v4 |
2 | g.202514836A= | CA1321537812 | BMPR2 | c.530-52A= (n.530-52A=) c.461-52A= (n.461-52A=) | |
2 | g.202514836A>C | CA1321537813 | BMPR2 | c.530-52A>C (n.530-52A>C) c.461-52A>C (n.461-52A>C) | dbSNP |
2 | g.202514836A>G | CA2662705491 | BMPR2 | c.530-52A>G (n.530-52A>G) c.461-52A>G (n.461-52A>G) | gnomAD v4 |
2 | g.202514836A>T | CA2662705492 | BMPR2 | c.530-52A>T (n.530-52A>T) c.461-52A>T (n.461-52A>T) | gnomAD v4 |
2 | g.202514838_202514839del | CA2577215565 | BMPR2 | c.530-50_530-49del (n.530-50_530-49del) c.461-50_461-49del (n.461-50_461-49del) | |
2 | g.202514837T>C | CA1041339652 | BMPR2 | c.530-51T>C (n.530-51T>C) c.461-51T>C (n.461-51T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514837T= | CA1321537814 | BMPR2 | c.530-51T= (n.530-51T=) c.461-51T= (n.461-51T=) | |
2 | g.202514839T>A | CA538970632 | BMPR2 | c.530-49T>A (n.530-49T>A) c.461-49T>A (n.461-49T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514839T>C | CA64012770 | BMPR2 | c.530-49T>C (n.530-49T>C) c.461-49T>C (n.461-49T>C) | dbSNP gnomAD v4 |
2 | g.202514839T= | CA1321537815 | BMPR2 | c.530-49T= (n.530-49T=) c.461-49T= (n.461-49T=) | |
2 | g.202514841_202514843dup | CA1321537816 | BMPR2 | c.530-47_530-45dup (n.530-47_530-45dup) c.461-47_461-45dup (n.461-47_461-45dup) | dbSNP |
2 | g.202514841C>A | CA2662705493 | BMPR2 | c.530-47C>A (n.530-47C>A) c.461-47C>A (n.461-47C>A) | gnomAD v4 |
2 | g.202514841C>T | CA2662705494 | BMPR2 | c.530-47C>T (n.530-47C>T) c.461-47C>T (n.461-47C>T) | gnomAD v4 |
2 | g.202514843T>C | CA2662705496 | BMPR2 | c.530-45T>C (n.530-45T>C) c.461-45T>C (n.461-45T>C) | gnomAD v4 |
2 | g.202514846del | CA2662705495 | BMPR2 | c.530-42del (n.530-42del) c.461-42del (n.461-42del) | gnomAD v4 |
2 | g.202514845T>A | CA2577215566 | BMPR2 | c.530-43T>A (n.530-43T>A) c.461-43T>A (n.461-43T>A) | |
2 | g.202514849G>A | CA2662705497 | BMPR2 | c.530-39G>A (n.530-39G>A) c.461-39G>A (n.461-39G>A) | gnomAD v4 |
2 | g.202514851A= | CA1321537817 | BMPR2 | c.530-37A= (n.530-37A=) c.461-37A= (n.461-37A=) | |
2 | g.202514851A>G | CA538970634 | BMPR2 | c.530-37A>G (n.530-37A>G) c.461-37A>G (n.461-37A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514852A>G | CA2662705498 | BMPR2 | c.530-36A>G (n.530-36A>G) c.461-36A>G (n.461-36A>G) | gnomAD v4 |
2 | g.202514853A>G | CA2662705499 | BMPR2 | c.530-35A>G (n.530-35A>G) c.461-35A>G (n.461-35A>G) | gnomAD v4 |
2 | g.202514856A= | CA1321537818 | BMPR2 | c.530-32A= (n.530-32A=) c.461-32A= (n.461-32A=) | |
2 | g.202514856A>G | CA2061141 | BMPR2 | c.530-32A>G (n.530-32A>G) c.461-32A>G (n.461-32A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514857T>C | CA1041339653 | BMPR2 | c.530-31T>C (n.530-31T>C) c.461-31T>C (n.461-31T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514857T= | CA1321537819 | BMPR2 | c.530-31T= (n.530-31T=) c.461-31T= (n.461-31T=) | |
2 | g.202514858A>T | CA2662705500 | BMPR2 | c.530-30A>T (n.530-30A>T) c.461-30A>T (n.461-30A>T) | gnomAD v4 |
2 | g.202514859T>A | CA2662705501 | BMPR2 | c.530-29T>A (n.530-29T>A) c.461-29T>A (n.461-29T>A) | gnomAD v4 |
2 | g.202514859T>C | CA1321537821 | BMPR2 | c.530-29T>C (n.530-29T>C) c.461-29T>C (n.461-29T>C) | dbSNP gnomAD v4 |
2 | g.202514859T= | CA1321537820 | BMPR2 | c.530-29T= (n.530-29T=) c.461-29T= (n.461-29T=) | |
2 | g.202514860A= | CA1321537822 | BMPR2 | c.530-28A= (n.530-28A=) c.461-28A= (n.461-28A=) | |
2 | g.202514860A>G | CA763445963 | BMPR2 | c.530-28A>G (n.530-28A>G) c.461-28A>G (n.461-28A>G) | dbSNP gnomAD v4 |
2 | g.202514862T>G | CA763445964 | BMPR2 | c.530-26T>G (n.530-26T>G) c.461-26T>G (n.461-26T>G) | dbSNP |
2 | g.202514862T= | CA1321537823 | BMPR2 | c.530-26T= (n.530-26T=) c.461-26T= (n.461-26T=) | |
2 | g.202514864G>C | CA538970636 | BMPR2 | c.530-24G>C (n.530-24G>C) c.461-24G>C (n.461-24G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514864G= | CA1321537824 | BMPR2 | c.530-24G= (n.530-24G=) c.461-24G= (n.461-24G=) | |
2 | g.202514864G>T | CA1041339655 | BMPR2 | c.530-24G>T (n.530-24G>T) c.461-24G>T (n.461-24G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514865T>G | CA763445965 | BMPR2 | c.530-23T>G (n.530-23T>G) c.461-23T>G (n.461-23T>G) | dbSNP |
2 | g.202514865T= | CA1321537825 | BMPR2 | c.530-23T= (n.530-23T=) c.461-23T= (n.461-23T=) | |
2 | g.202514867del | CA2577215567 | BMPR2 | c.530-21del (n.530-21del) c.461-21del (n.461-21del) | |
2 | g.202514869C>A | CA2662705502 | BMPR2 | c.530-19C>A (n.530-19C>A) c.461-19C>A (n.461-19C>A) | gnomAD v4 |
2 | g.202514869C= | CA1321537826 | BMPR2 | c.530-19C= (n.530-19C=) c.461-19C= (n.461-19C=) | |
2 | g.202514869C>T | CA2061142 | BMPR2 | c.530-19C>T (n.530-19C>T) c.461-19C>T (n.461-19C>T) | dbSNP ExAC gnomAD v2 |
2 | g.202514869_202514870delinsCT | CA1321537827 | BMPR2 | c.530-19_530-18delinsCT (n.530-19_530-18delinsCT) c.461-19_461-18delinsCT (n.461-19_461-18delinsCT) | |
2 | g.202514870del | CA538970637 | BMPR2 | c.530-18del (n.530-18del) c.461-18del (n.461-18del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514870T>G | CA2662705503 | BMPR2 | c.530-18T>G (n.530-18T>G) c.461-18T>G (n.461-18T>G) | gnomAD v4 |
2 | g.202514871G>T | CA2577215568 | BMPR2 | c.530-17G>T (n.530-17G>T) c.461-17G>T (n.461-17G>T) | |
2 | g.202514871_202514872delinsGT | CA1321537828 | BMPR2 | c.530-17_530-16delinsGT (n.530-17_530-16delinsGT) c.461-17_461-16delinsGT (n.461-17_461-16delinsGT) | |
2 | g.202514874del | CA763445980 | BMPR2 | c.530-14del (n.530-14del) c.461-14del (n.461-14del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514873T>G | CA2577215569 | BMPR2 | c.530-15T>G (n.530-15T>G) c.461-15T>G (n.461-15T>G) | gnomAD v4 |
2 | g.202514874T>A | CA538970642 | BMPR2 | c.530-14T>A (n.530-14T>A) c.461-14T>A (n.461-14T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514874T>C | CA2061143 | BMPR2 | c.530-14T>C (n.530-14T>C) c.461-14T>C (n.461-14T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514874T= | CA1321537829 | BMPR2 | c.530-14T= (n.530-14T=) c.461-14T= (n.461-14T=) | |
2 | g.202514875C>A | CA538970648 | BMPR2 | c.530-13C>A (n.530-13C>A) c.461-13C>A (n.461-13C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514875C= | CA1321537830 | BMPR2 | c.530-13C= (n.530-13C=) c.461-13C= (n.461-13C=) | |
2 | g.202514878G>A | CA763445998 | BMPR2 | c.530-10G>A (n.530-10G>A) c.461-10G>A (n.461-10G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514878G= | CA1321537831 | BMPR2 | c.530-10G= (n.530-10G=) c.461-10G= (n.461-10G=) | |
2 | g.202514880T>A | CA1321537833 | BMPR2 | c.530-8T>A (n.530-8T>A) c.461-8T>A (n.461-8T>A) | dbSNP |
2 | g.202514880T= | CA1321537832 | BMPR2 | c.530-8T= (n.530-8T=) c.461-8T= (n.461-8T=) | |
2 | g.202514881C>A | CA64012780 | BMPR2 | c.530-7C>A (n.530-7C>A) c.461-7C>A (n.461-7C>A) | dbSNP |
2 | g.202514881C= | CA1321537834 | BMPR2 | c.530-7C= (n.530-7C=) c.461-7C= (n.461-7C=) | |
2 | g.202514881C>T | CA2061144 | BMPR2 | c.530-7C>T (n.530-7C>T) c.461-7C>T (n.461-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202514882T>C | CA2701465434 | BMPR2 | c.530-6T>C (n.530-6T>C) c.461-6T>C (n.461-6T>C) | dbSNP |
2 | g.202514882_202514883del | CA2662705504 | BMPR2 | c.530-6_530-5del (n.530-6_530-5del) c.461-6_461-5del (n.461-6_461-5del) | gnomAD v4 |
2 | g.202514884A= | CA1321537835 | BMPR2 | c.530-4A= (n.530-4A=) c.461-4A= (n.461-4A=) | |
2 | g.202514884A>C | CA2577215571 | BMPR2 | c.530-4A>C (n.530-4A>C) c.461-4A>C (n.461-4A>C) | |
2 | g.202514884A>G | CA64012781 | BMPR2 | c.530-4A>G (n.530-4A>G) c.461-4A>G (n.461-4A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514884dup | CA2577215570 | BMPR2 | c.530-4dup (n.530-4dup) c.461-4dup (n.461-4dup) | |
2 | g.202514885T>C | CA763446004 | BMPR2 | c.530-3T>C (n.530-3T>C) c.461-3T>C (n.461-3T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514885T= | CA1321537836 | BMPR2 | c.530-3T= (n.530-3T=) c.461-3T= (n.461-3T=) | |
2 | g.202514886A>C | CA350338618 | BMPR2 | c.530-2A>C (n.530-2A>C) c.461-2A>C (n.461-2A>C) | |
2 | g.202514886A>G | CA350338620 | BMPR2 | c.530-2A>G (n.530-2A>G) c.461-2A>G (n.461-2A>G) | ClinVar dbSNP |
2 | g.202514886A>T | CA350338623 | BMPR2 | c.530-2A>T (n.530-2A>T) c.461-2A>T (n.461-2A>T) | COSMIC |
2 | g.202514886_202514887insCTGT | CA2662705505 | BMPR2 | c.530-2_530-1insCTGT (n.530-2_530-1insCTGT) c.461-2_461-1insCTGT (n.461-2_461-1insCTGT) | gnomAD v4 |
2 | g.202514887G>A | CA350338627 | BMPR2 | c.530-1G>A (n.530-1G>A) c.461-1G>A (n.461-1G>A) | |
2 | g.202514887G>C | CA350338628 | BMPR2 | c.530-1G>C (n.530-1G>C) c.461-1G>C (n.461-1G>C) | |
2 | g.202514887G>T | CA350338629 | BMPR2 | c.530-1G>T (n.530-1G>T) c.461-1G>T (n.461-1G>T) | |
2 | g.202514888G>A | CA350338638 | BMPR2 | c.530G>A (p.Gly177Glu) c.461G>A (p.Gly154Glu) | gnomAD v4 |
2 | g.202514888G>C | CA350338633 | BMPR2 | c.530G>C (p.Gly177Ala) c.461G>C (p.Gly154Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514888G= | CA1321537837 | BMPR2 | c.530G= (p.Gly177=) c.461G= (p.Gly154=) | |
2 | g.202514888G>T | CA350338636 | BMPR2 | c.530G>T (p.Gly177Val) c.461G>T (p.Gly154Val) | |
2 | g.202514889A= | CA1321537838 | BMPR2 | c.531A= (p.Gly177=) c.462A= (p.Gly154=) | |
2 | g.202514889A>C | CA430838524 | BMPR2 | c.531A>C (p.Gly177=) c.462A>C (p.Gly154=) | |
2 | g.202514889A>G | CA430838525 | BMPR2 | c.531A>G (p.Gly177=) c.462A>G (p.Gly154=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514889A>T | CA430838526 | BMPR2 | c.531A>T (p.Gly177=) c.462A>T (p.Gly154=) | |
2 | g.202514890G>A | CA350338641 | BMPR2 | c.532G>A (p.Asp178Asn) c.463G>A (p.Asp155Asn) | dbSNP gnomAD v2 |
2 | g.202514890G>C | CA350338644 | BMPR2 | c.532G>C (p.Asp178His) c.463G>C (p.Asp155His) | |
2 | g.202514890G= | CA1321537839 | BMPR2 | c.532G= (p.Asp178=) c.463G= (p.Asp155=) | |
2 | g.202514890G>T | CA350338646 | BMPR2 | c.532G>T (p.Asp178Tyr) c.463G>T (p.Asp155Tyr) | |
2 | g.202514891_202514894dup | CA915941639 | BMPR2 | c.533_536dup (p.Lys180ProfsTer2) c.464_467dup (p.Lys157ProfsTer2) | ClinVar dbSNP |
2 | g.202514891A>C | CA350338649 | BMPR2 | c.533A>C (p.Asp178Ala) c.464A>C (p.Asp155Ala) | |
2 | g.202514891A>G | CA350338652 | BMPR2 | c.533A>G (p.Asp178Gly) c.464A>G (p.Asp155Gly) | |
2 | g.202514891A>T | CA350338654 | BMPR2 | c.533A>T (p.Asp178Val) c.464A>T (p.Asp155Val) | |
2 | g.202514892C>A | CA350338659 | BMPR2 | c.534C>A (p.Asp178Glu) c.465C>A (p.Asp155Glu) | |
2 | g.202514892C>G | CA350338656 | BMPR2 | c.534C>G (p.Asp178Glu) c.465C>G (p.Asp155Glu) | |
2 | g.202514892C>T | CA430838530 | BMPR2 | c.534C>T (p.Asp178=) c.465C>T (p.Asp155=) | |
2 | g.202514893C>A | CA350338661 | BMPR2 | c.535C>A (p.Arg179Ser) c.466C>A (p.Arg156Ser) | |
2 | g.202514893C>G | CA350338664 | BMPR2 | c.535C>G (p.Arg179Gly) c.466C>G (p.Arg156Gly) | |
2 | g.202514893C>T | CA350338667 | BMPR2 | c.535C>T (p.Arg179Cys) c.466C>T (p.Arg156Cys) | gnomAD v4 COSMIC |
2 | g.202514894G>A | CA2061145 | BMPR2 | c.536G>A (p.Arg179His) c.467G>A (p.Arg156His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.202514894G>C | CA350338671 | BMPR2 | c.536G>C (p.Arg179Pro) c.467G>C (p.Arg156Pro) | gnomAD v4 |
2 | g.202514894G= | CA1321537840 | BMPR2 | c.536G= (p.Arg179=) c.467G= (p.Arg156=) | |
2 | g.202514894G>T | CA350338673 | BMPR2 | c.536G>T (p.Arg179Leu) c.467G>T (p.Arg156Leu) | |
2 | g.202514895T>A | CA430838534 | BMPR2 | c.537T>A (p.Arg179=) c.468T>A (p.Arg156=) | |
2 | g.202514895T>C | CA430838533 | BMPR2 | c.537T>C (p.Arg179=) c.468T>C (p.Arg156=) | gnomAD v4 |
2 | g.202514895T>G | CA430838532 | BMPR2 | c.537T>G (p.Arg179=) c.468T>G (p.Arg156=) | |
2 | g.202514896A= | CA1321537841 | BMPR2 | c.538A= (p.Lys180=) c.469A= (p.Lys157=) | |
2 | g.202514896A>C | CA2061146 | BMPR2 | c.538A>C (p.Lys180Gln) c.469A>C (p.Lys157Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202514896A>G | CA350338677 | BMPR2 | c.538A>G (p.Lys180Glu) c.469A>G (p.Lys157Glu) | |
2 | g.202514896A>T | CA350338680 | BMPR2 | c.538A>T (p.Lys180Ter) c.469A>T (p.Lys157Ter) | |
2 | g.202514897A= | CA1321537842 | BMPR2 | c.539A= (p.Lys180=) c.470A= (p.Lys157=) | |
2 | g.202514897A>C | CA350338685 | BMPR2 | c.539A>C (p.Lys180Thr) c.470A>C (p.Lys157Thr) | |
2 | g.202514897A>G | CA350338686 | BMPR2 | c.539A>G (p.Lys180Arg) c.470A>G (p.Lys157Arg) | |
2 | g.202514897A>T | CA350338688 | BMPR2 | c.539A>T (p.Lys180Ile) c.470A>T (p.Lys157Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514898A= | CA1321537843 | BMPR2 | c.540A= (p.Lys180=) c.471A= (p.Lys157=) | |
2 | g.202514898A>C | CA350338691 | BMPR2 | c.540A>C (p.Lys180Asn) c.471A>C (p.Lys157Asn) | |
2 | g.202514898A>G | CA430838535 | BMPR2 | c.540A>G (p.Lys180=) c.471A>G (p.Lys157=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514898A>T | CA350338694 | BMPR2 | c.540A>T (p.Lys180Asn) c.471A>T (p.Lys157Asn) | |
2 | g.202514899C>A | CA350338696 | BMPR2 | c.541C>A (p.Gln181Lys) c.472C>A (p.Gln158Lys) | COSMIC |
2 | g.202514899C= | CA1321537844 | BMPR2 | c.541C= (p.Gln181=) c.472C= (p.Gln158=) | |
2 | g.202514899C>G | CA350338698 | BMPR2 | c.541C>G (p.Gln181Glu) c.472C>G (p.Gln158Glu) | |
2 | g.202514899C>T | CA350338700 | BMPR2 | c.541C>T (p.Gln181Ter) c.472C>T (p.Gln158Ter) | ClinVar dbSNP |
2 | g.202514900A= | CA1321537845 | BMPR2 | c.542A= (p.Gln181=) c.473A= (p.Gln158=) | |
2 | g.202514900A>C | CA350338702 | BMPR2 | c.542A>C (p.Gln181Pro) c.473A>C (p.Gln158Pro) | |
2 | g.202514900A>G | CA350338705 | BMPR2 | c.542A>G (p.Gln181Arg) c.473A>G (p.Gln158Arg) | dbSNP gnomAD v4 |
2 | g.202514900A>T | CA350338708 | BMPR2 | c.542A>T (p.Gln181Leu) c.473A>T (p.Gln158Leu) | |
2 | g.202514901A>C | CA350338712 | BMPR2 | c.543A>C (p.Gln181His) c.474A>C (p.Gln158His) | |
2 | g.202514901A>G | CA430838539 | BMPR2 | c.543A>G (p.Gln181=) c.474A>G (p.Gln158=) | |
2 | g.202514901A>T | CA350338715 | BMPR2 | c.543A>T (p.Gln181His) c.474A>T (p.Gln158His) | |
2 | g.202514901_202514902del | CA2586971004 | BMPR2 | c.543_544del (p.Gly182SerfsTer17) c.474_475del (p.Gly159SerfsTer17) | |
2 | g.202514902G>A | CA350338723 | BMPR2 | c.544G>A (p.Gly182Ser) c.475G>A (p.Gly159Ser) | dbSNP gnomAD v4 |
2 | g.202514902G>C | CA350338719 | BMPR2 | c.544G>C (p.Gly182Arg) c.475G>C (p.Gly159Arg) | |
2 | g.202514902G= | CA1321537846 | BMPR2 | c.544G= (p.Gly182=) c.475G= (p.Gly159=) | |
2 | g.202514902G>T | CA350338720 | BMPR2 | c.544G>T (p.Gly182Cys) c.475G>T (p.Gly159Cys) | |
2 | g.202514903G>A | CA119936 | BMPR2 | c.545G>A (p.Gly182Asp) c.476G>A (p.Gly159Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514903G>C | CA350338728 | BMPR2 | c.545G>C (p.Gly182Ala) c.476G>C (p.Gly159Ala) | |
2 | g.202514903G= | CA1321537847 | BMPR2 | c.545G= (p.Gly182=) c.476G= (p.Gly159=) | |
2 | g.202514903G>T | CA350338730 | BMPR2 | c.545G>T (p.Gly182Val) c.476G>T (p.Gly159Val) | |
2 | g.202514904T>A | CA430838542 | BMPR2 | c.546T>A (p.Gly182=) c.477T>A (p.Gly159=) | |
2 | g.202514904T>C | CA430838543 | BMPR2 | c.546T>C (p.Gly182=) c.477T>C (p.Gly159=) | |
2 | g.202514904T>G | CA430838544 | BMPR2 | c.546T>G (p.Gly182=) c.477T>G (p.Gly159=) | |
2 | g.202514905C>A | CA350338733 | BMPR2 | c.547C>A (p.Leu183Ile) c.478C>A (p.Leu160Ile) | |
2 | g.202514905C= | CA1321537848 | BMPR2 | c.547C= (p.Leu183=) c.478C= (p.Leu160=) | |
2 | g.202514905C>G | CA350338736 | BMPR2 | c.547C>G (p.Leu183Val) c.478C>G (p.Leu160Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202514905C>T | CA350338738 | BMPR2 | c.547C>T (p.Leu183Phe) c.478C>T (p.Leu160Phe) | |
2 | g.202514906T>A | CA350338743 | BMPR2 | c.548T>A (p.Leu183His) c.479T>A (p.Leu160His) | |
2 | g.202514906T>C | CA350338744 | BMPR2 | c.548T>C (p.Leu183Pro) c.479T>C (p.Leu160Pro) | |
2 | g.202514906T>G | CA350338746 | BMPR2 | c.548T>G (p.Leu183Arg) c.479T>G (p.Leu160Arg) | |
2 | g.202514907T>A | CA430838547 | BMPR2 | c.549T>A (p.Leu183=) c.480T>A (p.Leu160=) | |
2 | g.202514907T>C | CA2061147 | BMPR2 | c.549T>C (p.Leu183=) c.480T>C (p.Leu160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202514907T>G | CA430838548 | BMPR2 | c.549T>G (p.Leu183=) c.480T>G (p.Leu160=) | |
2 | g.202514907T= | CA1321537849 | BMPR2 | c.549T= (p.Leu183=) c.480T= (p.Leu160=) |