Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.6778433_6778436delinsCCTG | CA2348112115 | BMP2 | c.535_538delinsCCTG (p.Pro179=) c.67_70delinsCCTG (p.Pro23=) | |
20 | g.6778435_6778437del | CA634802377 | BMP2 | c.537_539del (p.Ala180del) c.69_71del (p.Ala24del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778435T>A | CA509817704 | BMP2 | c.537T>A (p.Pro179=) c.69T>A (p.Pro23=) | |
20 | g.6778435T>C | CA509817706 | BMP2 | c.537T>C (p.Pro179=) c.69T>C (p.Pro23=) | |
20 | g.6778435T>G | CA509817707 | BMP2 | c.537T>G (p.Pro179=) c.69T>G (p.Pro23=) | |
20 | g.6778436G>A | CA408258565 | BMP2 | c.538G>A (p.Ala180Thr) c.70G>A (p.Ala24Thr) | |
20 | g.6778436G>C | CA408258564 | BMP2 | c.538G>C (p.Ala180Pro) c.70G>C (p.Ala24Pro) | |
20 | g.6778436G>T | CA408258563 | BMP2 | c.538G>T (p.Ala180Ser) c.70G>T (p.Ala24Ser) | |
20 | g.6778437C>A | CA408258566 | BMP2 | c.539C>A (p.Ala180Glu) c.71C>A (p.Ala24Glu) | dbSNP |
20 | g.6778437C= | CA2348112117 | BMP2 | c.539C= (p.Ala180=) c.71C= (p.Ala24=) | |
20 | g.6778437C>G | CA408258567 | BMP2 | c.539C>G (p.Ala180Gly) c.71C>G (p.Ala24Gly) | |
20 | g.6778437C>T | CA9758697 | BMP2 | c.539C>T (p.Ala180Val) c.71C>T (p.Ala24Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778438A= | CA2348112118 | BMP2 | c.540A= (p.Ala180=) c.72A= (p.Ala24=) | |
20 | g.6778438A>C | CA509817711 | BMP2 | c.540A>C (p.Ala180=) c.72A>C (p.Ala24=) | |
20 | g.6778438A>G | CA311471919 | BMP2 | c.540A>G (p.Ala180=) c.72A>G (p.Ala24=) | dbSNP |
20 | g.6778438A>T | CA509817713 | BMP2 | c.540A>T (p.Ala180=) c.72A>T (p.Ala24=) | |
20 | g.6778439A>C | CA408258568 | BMP2 | c.541A>C (p.Thr181Pro) c.73A>C (p.Thr25Pro) | |
20 | g.6778439A>G | CA408258569 | BMP2 | c.541A>G (p.Thr181Ala) c.73A>G (p.Thr25Ala) | |
20 | g.6778439A>T | CA408258570 | BMP2 | c.541A>T (p.Thr181Ser) c.73A>T (p.Thr25Ser) | |
20 | g.6778440C>A | CA408258571 | BMP2 | c.542C>A (p.Thr181Lys) c.74C>A (p.Thr25Lys) | |
20 | g.6778440C= | CA2348112119 | BMP2 | c.542C= (p.Thr181=) c.74C= (p.Thr25=) | |
20 | g.6778440C>G | CA408258572 | BMP2 | c.542C>G (p.Thr181Arg) c.74C>G (p.Thr25Arg) | |
20 | g.6778440C>T | CA9758698 | BMP2 | c.542C>T (p.Thr181Ile) c.74C>T (p.Thr25Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778441A>C | CA509817718 | BMP2 | c.543A>C (p.Thr181=) c.75A>C (p.Thr25=) | |
20 | g.6778441A>G | CA509817719 | BMP2 | c.543A>G (p.Thr181=) c.75A>G (p.Thr25=) | |
20 | g.6778441A>T | CA509817720 | BMP2 | c.543A>T (p.Thr181=) c.75A>T (p.Thr25=) | |
20 | g.6778442G>A | CA408258573 | BMP2 | c.544G>A (p.Ala182Thr) c.76G>A (p.Ala26Thr) | |
20 | g.6778442G>C | CA408258574 | BMP2 | c.544G>C (p.Ala182Pro) c.76G>C (p.Ala26Pro) | dbSNP |
20 | g.6778442G= | CA2348112120 | BMP2 | c.544G= (p.Ala182=) c.76G= (p.Ala26=) | |
20 | g.6778442G>T | CA408258575 | BMP2 | c.544G>T (p.Ala182Ser) c.76G>T (p.Ala26Ser) | |
20 | g.6778443C>A | CA408258576 | BMP2 | c.545C>A (p.Ala182Asp) c.77C>A (p.Ala26Asp) | |
20 | g.6778443C>G | CA408258577 | BMP2 | c.545C>G (p.Ala182Gly) c.77C>G (p.Ala26Gly) | gnomAD v4 |
20 | g.6778443C>T | CA408258578 | BMP2 | c.545C>T (p.Ala182Val) c.77C>T (p.Ala26Val) | |
20 | g.6778444C>A | CA509817722 | BMP2 | c.546C>A (p.Ala182=) c.78C>A (p.Ala26=) | |
20 | g.6778444C= | CA2348112121 | BMP2 | c.546C= (p.Ala182=) c.78C= (p.Ala26=) | |
20 | g.6778444C>G | CA9758699 | BMP2 | c.546C>G (p.Ala182=) c.78C>G (p.Ala26=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778444C>T | CA509817724 | BMP2 | c.546C>T (p.Ala182=) c.78C>T (p.Ala26=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778445A>C | CA408258579 | BMP2 | c.547A>C (p.Asn183His) c.79A>C (p.Asn27His) | |
20 | g.6778445A>G | CA408258581 | BMP2 | c.547A>G (p.Asn183Asp) c.79A>G (p.Asn27Asp) | |
20 | g.6778445A>T | CA408258580 | BMP2 | c.547A>T (p.Asn183Tyr) c.79A>T (p.Asn27Tyr) | |
20 | g.6778446A>C | CA408258582 | BMP2 | c.548A>C (p.Asn183Thr) c.80A>C (p.Asn27Thr) | |
20 | g.6778446A>G | CA408258583 | BMP2 | c.548A>G (p.Asn183Ser) c.80A>G (p.Asn27Ser) | |
20 | g.6778446A>T | CA408258584 | BMP2 | c.548A>T (p.Asn183Ile) c.80A>T (p.Asn27Ile) | |
20 | g.6778447C>A | CA408258585 | BMP2 | c.549C>A (p.Asn183Lys) c.81C>A (p.Asn27Lys) | |
20 | g.6778447C>G | CA408258586 | BMP2 | c.549C>G (p.Asn183Lys) c.81C>G (p.Asn27Lys) | |
20 | g.6778447C>T | CA509817727 | BMP2 | c.549C>T (p.Asn183=) c.81C>T (p.Asn27=) | dbSNP |
20 | g.6778448T>A | CA408258587 | BMP2 | c.550T>A (p.Ser184Thr) c.82T>A (p.Ser28Thr) | |
20 | g.6778448T>C | CA408258588 | BMP2 | c.550T>C (p.Ser184Pro) c.82T>C (p.Ser28Pro) | |
20 | g.6778448T>G | CA408258589 | BMP2 | c.550T>G (p.Ser184Ala) c.82T>G (p.Ser28Ala) | |
20 | g.6778449C>A | CA408258590 | BMP2 | c.551C>A (p.Ser184Ter) c.83C>A (p.Ser28Ter) | |
20 | g.6778449C= | CA2348112122 | BMP2 | c.551C= (p.Ser184=) c.83C= (p.Ser28=) | |
20 | g.6778449C>G | CA9758701 | BMP2 | c.551C>G (p.Ser184Trp) c.83C>G (p.Ser28Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778449C>T | CA9758700 | BMP2 | c.551C>T (p.Ser184Leu) c.83C>T (p.Ser28Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778450G>A | CA202299 | BMP2 | c.552G>A (p.Ser184=) c.84G>A (p.Ser28=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778450G>C | CA509817730 | BMP2 | c.552G>C (p.Ser184=) c.84G>C (p.Ser28=) | |
20 | g.6778450G= | CA2348112123 | BMP2 | c.552G= (p.Ser184=) c.84G= (p.Ser28=) | |
20 | g.6778450G>T | CA509817731 | BMP2 | c.552G>T (p.Ser184=) c.84G>T (p.Ser28=) | |
20 | g.6778451A>C | CA408258593 | BMP2 | c.553A>C (p.Lys185Gln) c.85A>C (p.Lys29Gln) | |
20 | g.6778451A>G | CA408258591 | BMP2 | c.553A>G (p.Lys185Glu) c.85A>G (p.Lys29Glu) | |
20 | g.6778451A>T | CA408258592 | BMP2 | c.553A>T (p.Lys185Ter) c.85A>T (p.Lys29Ter) | |
20 | g.6778452A= | CA2348112124 | BMP2 | c.554A= (p.Lys185=) c.86A= (p.Lys29=) | |
20 | g.6778452A>C | CA408258594 | BMP2 | c.554A>C (p.Lys185Thr) c.86A>C (p.Lys29Thr) | |
20 | g.6778452A>G | CA9758702 | BMP2 | c.554A>G (p.Lys185Arg) c.86A>G (p.Lys29Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778452A>T | CA408258595 | BMP2 | c.554A>T (p.Lys185Ile) c.86A>T (p.Lys29Ile) | |
20 | g.6778453A>C | CA408258596 | BMP2 | c.555A>C (p.Lys185Asn) c.87A>C (p.Lys29Asn) | dbSNP |
20 | g.6778453A>G | CA509817738 | BMP2 | c.555A>G (p.Lys185=) c.87A>G (p.Lys29=) | |
20 | g.6778453A>T | CA408258597 | BMP2 | c.555A>T (p.Lys185Asn) c.87A>T (p.Lys29Asn) | |
20 | g.6778454T>A | CA408258598 | BMP2 | c.556T>A (p.Phe186Ile) c.88T>A (p.Phe30Ile) | |
20 | g.6778454T>C | CA9758703 | BMP2 | c.556T>C (p.Phe186Leu) c.88T>C (p.Phe30Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778454T>G | CA408258599 | BMP2 | c.556T>G (p.Phe186Val) c.88T>G (p.Phe30Val) | |
20 | g.6778454T= | CA2348112125 | BMP2 | c.556T= (p.Phe186=) c.88T= (p.Phe30=) | |
20 | g.6778454_6778455del | CA2815171971 | BMP2 | c.556_557del (p.Phe186ProfsTer22) c.88_89del (p.Phe30ProfsTer22) | |
20 | g.6778455T>A | CA408258600 | BMP2 | c.557T>A (p.Phe186Tyr) c.89T>A (p.Phe30Tyr) | |
20 | g.6778455T>C | CA408258601 | BMP2 | c.557T>C (p.Phe186Ser) c.89T>C (p.Phe30Ser) | |
20 | g.6778455T>G | CA408258602 | BMP2 | c.557T>G (p.Phe186Cys) c.89T>G (p.Phe30Cys) | |
20 | g.6778456C>A | CA408258604 | BMP2 | c.558C>A (p.Phe186Leu) c.90C>A (p.Phe30Leu) | gnomAD v4 |
20 | g.6778456C>G | CA408258603 | BMP2 | c.558C>G (p.Phe186Leu) c.90C>G (p.Phe30Leu) | |
20 | g.6778456C>T | CA509817747 | BMP2 | c.558C>T (p.Phe186=) c.90C>T (p.Phe30=) | gnomAD v4 COSMIC |
20 | g.6778457C>A | CA408258605 | BMP2 | c.559C>A (p.Pro187Thr) c.91C>A (p.Pro31Thr) | |
20 | g.6778457C>G | CA408258606 | BMP2 | c.559C>G (p.Pro187Ala) c.91C>G (p.Pro31Ala) | |
20 | g.6778457C>T | CA408258607 | BMP2 | c.559C>T (p.Pro187Ser) c.91C>T (p.Pro31Ser) | gnomAD v4 |
20 | g.6778458C>A | CA408258608 | BMP2 | c.560C>A (p.Pro187His) c.92C>A (p.Pro31His) | |
20 | g.6778458C>G | CA408258609 | BMP2 | c.560C>G (p.Pro187Arg) c.92C>G (p.Pro31Arg) | |
20 | g.6778458C>T | CA408258610 | BMP2 | c.560C>T (p.Pro187Leu) c.92C>T (p.Pro31Leu) | |
20 | g.6778459C>A | CA509817752 | BMP2 | c.561C>A (p.Pro187=) c.93C>A (p.Pro31=) | |
20 | g.6778459C= | CA2348112126 | BMP2 | c.561C= (p.Pro187=) c.93C= (p.Pro31=) | |
20 | g.6778459C>G | CA509817753 | BMP2 | c.561C>G (p.Pro187=) c.93C>G (p.Pro31=) | gnomAD v4 |
20 | g.6778459C>T | CA9758704 | BMP2 | c.561C>T (p.Pro187=) c.93C>T (p.Pro31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778460G>A | CA9758705 | BMP2 | c.562G>A (p.Val188Met) c.94G>A (p.Val32Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778460G>C | CA408258611 | BMP2 | c.562G>C (p.Val188Leu) c.94G>C (p.Val32Leu) | |
20 | g.6778460G= | CA2348112127 | BMP2 | c.562G= (p.Val188=) c.94G= (p.Val32=) | |
20 | g.6778460G>T | CA408258612 | BMP2 | c.562G>T (p.Val188Leu) c.94G>T (p.Val32Leu) | |
20 | g.6778461T>A | CA408258613 | BMP2 | c.563T>A (p.Val188Glu) c.95T>A (p.Val32Glu) | |
20 | g.6778461T>C | CA408258614 | BMP2 | c.563T>C (p.Val188Ala) c.95T>C (p.Val32Ala) | |
20 | g.6778461T>G | CA408258615 | BMP2 | c.563T>G (p.Val188Gly) c.95T>G (p.Val32Gly) | |
20 | g.6778462G>A | CA509817757 | BMP2 | c.564G>A (p.Val188=) c.96G>A (p.Val32=) | |
20 | g.6778462G>C | CA509817758 | BMP2 | c.564G>C (p.Val188=) c.96G>C (p.Val32=) | |
20 | g.6778462G>T | CA509817759 | BMP2 | c.564G>T (p.Val188=) c.96G>T (p.Val32=) | |
20 | g.6778463A>C | CA408258617 | BMP2 | c.565A>C (p.Thr189Pro) c.97A>C (p.Thr33Pro) | |
20 | g.6778463A>G | CA408258618 | BMP2 | c.565A>G (p.Thr189Ala) c.97A>G (p.Thr33Ala) | |
20 | g.6778463A>T | CA408258616 | BMP2 | c.565A>T (p.Thr189Ser) c.97A>T (p.Thr33Ser) | gnomAD v4 |
20 | g.6778464C>A | CA408258621 | BMP2 | c.566C>A (p.Thr189Asn) c.98C>A (p.Thr33Asn) | |
20 | g.6778464C= | CA2348112128 | BMP2 | c.566C= (p.Thr189=) c.98C= (p.Thr33=) | |
20 | g.6778464C>G | CA408258619 | BMP2 | c.566C>G (p.Thr189Ser) c.98C>G (p.Thr33Ser) | dbSNP |
20 | g.6778464C>T | CA408258620 | BMP2 | c.566C>T (p.Thr189Ile) c.98C>T (p.Thr33Ile) | |
20 | g.6778465C>A | CA509817763 | BMP2 | c.567C>A (p.Thr189=) c.99C>A (p.Thr33=) | |
20 | g.6778465C>G | CA509817762 | BMP2 | c.567C>G (p.Thr189=) c.99C>G (p.Thr33=) | gnomAD v4 |
20 | g.6778465C>T | CA509817761 | BMP2 | c.567C>T (p.Thr189=) c.99C>T (p.Thr33=) | |
20 | g.6778466A= | CA2348112129 | BMP2 | c.568A= (p.Arg190=) c.100A= (p.Arg34=) | |
20 | g.6778466A>C | CA509817764 | BMP2 | c.568A>C (p.Arg190=) c.100A>C (p.Arg34=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.6778466A>G | CA408258622 | BMP2 | c.568A>G (p.Arg190Gly) c.100A>G (p.Arg34Gly) | gnomAD v4 |
20 | g.6778466A>T | CA408258623 | BMP2 | c.568A>T (p.Arg190Ter) c.100A>T (p.Arg34Ter) | |
20 | g.6778467G>A | CA311471920 | BMP2 | c.569G>A (p.Arg190Lys) c.101G>A (p.Arg34Lys) | dbSNP |
20 | g.6778467G>C | CA408258624 | BMP2 | c.569G>C (p.Arg190Thr) c.101G>C (p.Arg34Thr) | |
20 | g.6778467G= | CA2348112130 | BMP2 | c.569G= (p.Arg190=) c.101G= (p.Arg34=) | |
20 | g.6778467G>T | CA408258625 | BMP2 | c.569G>T (p.Arg190Ile) c.101G>T (p.Arg34Ile) | |
20 | g.6778468A= | CA2348112131 | BMP2 | c.570A= (p.Arg190=) c.102A= (p.Arg34=) | |
20 | g.6778468A>C | CA408258626 | BMP2 | c.570A>C (p.Arg190Ser) c.102A>C (p.Arg34Ser) | |
20 | g.6778468A>G | CA509817765 | BMP2 | c.570A>G (p.Arg190=) c.102A>G (p.Arg34=) | dbSNP |
20 | g.6778468A>T | CA202297 | BMP2 | c.570A>T (p.Arg190Ser) c.102A>T (p.Arg34Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778469C>A | CA408258627 | BMP2 | c.571C>A (p.Leu191Ile) c.103C>A (p.Leu35Ile) | |
20 | g.6778469C>G | CA408258628 | BMP2 | c.571C>G (p.Leu191Val) c.103C>G (p.Leu35Val) | |
20 | g.6778469C>T | CA408258629 | BMP2 | c.571C>T (p.Leu191Phe) c.103C>T (p.Leu35Phe) | |
20 | g.6778470T>A | CA408258631 | BMP2 | c.572T>A (p.Leu191His) c.104T>A (p.Leu35His) | |
20 | g.6778470T>C | CA408258632 | BMP2 | c.572T>C (p.Leu191Pro) c.104T>C (p.Leu35Pro) | |
20 | g.6778470T>G | CA408258630 | BMP2 | c.572T>G (p.Leu191Arg) c.104T>G (p.Leu35Arg) | |
20 | g.6778471T>A | CA509817767 | BMP2 | c.573T>A (p.Leu191=) c.105T>A (p.Leu35=) | |
20 | g.6778471T>C | CA509817769 | BMP2 | c.573T>C (p.Leu191=) c.105T>C (p.Leu35=) | gnomAD v4 |
20 | g.6778471T>G | CA509817768 | BMP2 | c.573T>G (p.Leu191=) c.105T>G (p.Leu35=) | |
20 | g.6778472T>A | CA408258633 | BMP2 | c.574T>A (p.Leu192Met) c.106T>A (p.Leu36Met) | |
20 | g.6778472T>C | CA9758706 | BMP2 | c.574T>C (p.Leu192=) c.106T>C (p.Leu36=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778472T>G | CA408258634 | BMP2 | c.574T>G (p.Leu192Val) c.106T>G (p.Leu36Val) | |
20 | g.6778472T= | CA2348112132 | BMP2 | c.574T= (p.Leu192=) c.106T= (p.Leu36=) | |
20 | g.6778473T>A | CA408258635 | BMP2 | c.575T>A (p.Leu192Ter) c.107T>A (p.Leu36Ter) | |
20 | g.6778473T>C | CA408258636 | BMP2 | c.575T>C (p.Leu192Ser) c.107T>C (p.Leu36Ser) | |
20 | g.6778473T>G | CA408258637 | BMP2 | c.575T>G (p.Leu192Trp) c.107T>G (p.Leu36Trp) | |
20 | g.6778474G>A | CA509817773 | BMP2 | c.576G>A (p.Leu192=) c.108G>A (p.Leu36=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778474G>C | CA408258638 | BMP2 | c.576G>C (p.Leu192Phe) c.108G>C (p.Leu36Phe) | |
20 | g.6778474G= | CA2348112133 | BMP2 | c.576G= (p.Leu192=) c.108G= (p.Leu36=) | |
20 | g.6778474G>T | CA408258639 | BMP2 | c.576G>T (p.Leu192Phe) c.108G>T (p.Leu36Phe) | |
20 | g.6778475G>A | CA408258640 | BMP2 | c.577G>A (p.Asp193Asn) c.109G>A (p.Asp37Asn) | |
20 | g.6778475G>C | CA408258641 | BMP2 | c.577G>C (p.Asp193His) c.109G>C (p.Asp37His) | |
20 | g.6778475G>T | CA408258642 | BMP2 | c.577G>T (p.Asp193Tyr) c.109G>T (p.Asp37Tyr) | |
20 | g.6778476A>C | CA408258643 | BMP2 | c.578A>C (p.Asp193Ala) c.110A>C (p.Asp37Ala) | |
20 | g.6778476A>G | CA408258644 | BMP2 | c.578A>G (p.Asp193Gly) c.110A>G (p.Asp37Gly) | |
20 | g.6778476A>T | CA408258645 | BMP2 | c.578A>T (p.Asp193Val) c.110A>T (p.Asp37Val) | |
20 | g.6778477C>A | CA408258647 | BMP2 | c.579C>A (p.Asp193Glu) c.111C>A (p.Asp37Glu) | |
20 | g.6778477C>G | CA408258646 | BMP2 | c.579C>G (p.Asp193Glu) c.111C>G (p.Asp37Glu) | |
20 | g.6778477C>T | CA509817778 | BMP2 | c.579C>T (p.Asp193=) c.111C>T (p.Asp37=) | |
20 | g.6778478A>C | CA408258648 | BMP2 | c.580A>C (p.Thr194Pro) c.112A>C (p.Thr38Pro) | |
20 | g.6778478A>G | CA408258649 | BMP2 | c.580A>G (p.Thr194Ala) c.112A>G (p.Thr38Ala) | |
20 | g.6778478A>T | CA408258650 | BMP2 | c.580A>T (p.Thr194Ser) c.112A>T (p.Thr38Ser) | |
20 | g.6778479C>A | CA408258651 | BMP2 | c.581C>A (p.Thr194Asn) c.113C>A (p.Thr38Asn) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.6778479C= | CA2348112134 | BMP2 | c.581C= (p.Thr194=) c.113C= (p.Thr38=) | |
20 | g.6778479C>G | CA408258652 | BMP2 | c.581C>G (p.Thr194Ser) c.113C>G (p.Thr38Ser) | |
20 | g.6778479C>T | CA408258653 | BMP2 | c.581C>T (p.Thr194Ile) c.113C>T (p.Thr38Ile) | |
20 | g.6778480C>A | CA509817780 | BMP2 | c.582C>A (p.Thr194=) c.114C>A (p.Thr38=) | gnomAD v4 |
20 | g.6778480C>G | CA509817781 | BMP2 | c.582C>G (p.Thr194=) c.114C>G (p.Thr38=) | |
20 | g.6778480C>T | CA509817782 | BMP2 | c.582C>T (p.Thr194=) c.114C>T (p.Thr38=) | |
20 | g.6778481A>C | CA509817783 | BMP2 | c.583A>C (p.Arg195=) c.115A>C (p.Arg39=) | gnomAD v4 |
20 | g.6778481A>G | CA408258654 | BMP2 | c.583A>G (p.Arg195Gly) c.115A>G (p.Arg39Gly) | |
20 | g.6778481A>T | CA408258655 | BMP2 | c.583A>T (p.Arg195Trp) c.115A>T (p.Arg39Trp) | |
20 | g.6778482G>A | CA311471921 | BMP2 | c.584G>A (p.Arg195Lys) c.116G>A (p.Arg39Lys) | dbSNP gnomAD v4 COSMIC |
20 | g.6778482G>C | CA408258657 | BMP2 | c.584G>C (p.Arg195Thr) c.116G>C (p.Arg39Thr) | gnomAD v4 |
20 | g.6778482G= | CA2348112135 | BMP2 | c.584G= (p.Arg195=) c.116G= (p.Arg39=) | |
20 | g.6778482G>T | CA408258656 | BMP2 | c.584G>T (p.Arg195Met) c.116G>T (p.Arg39Met) | |
20 | g.6778483G>A | CA311471922 | BMP2 | c.585G>A (p.Arg195=) c.117G>A (p.Arg39=) | dbSNP |
20 | g.6778483G>C | CA408258658 | BMP2 | c.585G>C (p.Arg195Ser) c.117G>C (p.Arg39Ser) | |
20 | g.6778483G= | CA2348112136 | BMP2 | c.585G= (p.Arg195=) c.117G= (p.Arg39=) | |
20 | g.6778483G>T | CA408258659 | BMP2 | c.585G>T (p.Arg195Ser) c.117G>T (p.Arg39Ser) | |
20 | g.6778484T>A | CA408258660 | BMP2 | c.586T>A (p.Leu196Met) c.118T>A (p.Leu40Met) | |
20 | g.6778484T>C | CA509817785 | BMP2 | c.586T>C (p.Leu196=) c.118T>C (p.Leu40=) | |
20 | g.6778484T>G | CA408258661 | BMP2 | c.586T>G (p.Leu196Val) c.118T>G (p.Leu40Val) | |
20 | g.6778485T>A | CA408258662 | BMP2 | c.587T>A (p.Leu196Ter) c.119T>A (p.Leu40Ter) | |
20 | g.6778485T>C | CA408258664 | BMP2 | c.587T>C (p.Leu196Ser) c.119T>C (p.Leu40Ser) | |
20 | g.6778485T>G | CA408258663 | BMP2 | c.587T>G (p.Leu196Trp) c.119T>G (p.Leu40Trp) | |
20 | g.6778486G>A | CA509817786 | BMP2 | c.588G>A (p.Leu196=) c.120G>A (p.Leu40=) | |
20 | g.6778486G>C | CA408258665 | BMP2 | c.588G>C (p.Leu196Phe) c.120G>C (p.Leu40Phe) | gnomAD v4 |
20 | g.6778486G>T | CA408258666 | BMP2 | c.588G>T (p.Leu196Phe) c.120G>T (p.Leu40Phe) | |
20 | g.6778487G>A | CA408258667 | BMP2 | c.589G>A (p.Val197Met) c.121G>A (p.Val41Met) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.6778487G>C | CA9758707 | BMP2 | c.589G>C (p.Val197Leu) c.121G>C (p.Val41Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778487G= | CA2348112137 | BMP2 | c.589G= (p.Val197=) c.121G= (p.Val41=) | |
20 | g.6778487G>T | CA408258669 | BMP2 | c.589G>T (p.Val197Leu) c.121G>T (p.Val41Leu) | dbSNP |
20 | g.6778488T>A | CA408258670 | BMP2 | c.590T>A (p.Val197Glu) c.122T>A (p.Val41Glu) | |
20 | g.6778488T>C | CA408258671 | BMP2 | c.590T>C (p.Val197Ala) c.122T>C (p.Val41Ala) | |
20 | g.6778488T>G | CA408258672 | BMP2 | c.590T>G (p.Val197Gly) c.122T>G (p.Val41Gly) | |
20 | g.6778489G>A | CA9758708 | BMP2 | c.591G>A (p.Val197=) c.123G>A (p.Val41=) | dbSNP ExAC gnomAD v2 |
20 | g.6778489G>C | CA509817787 | BMP2 | c.591G>C (p.Val197=) c.123G>C (p.Val41=) | |
20 | g.6778489G= | CA2348112138 | BMP2 | c.591G= (p.Val197=) c.123G= (p.Val41=) | |
20 | g.6778489G>T | CA509817789 | BMP2 | c.591G>T (p.Val197=) c.123G>T (p.Val41=) | |
20 | g.6778490A>C | CA408258673 | BMP2 | c.592A>C (p.Asn198His) c.124A>C (p.Asn42His) | |
20 | g.6778490A>G | CA408258674 | BMP2 | c.592A>G (p.Asn198Asp) c.124A>G (p.Asn42Asp) | |
20 | g.6778490A>T | CA408258675 | BMP2 | c.592A>T (p.Asn198Tyr) c.124A>T (p.Asn42Tyr) | |
20 | g.6778491A>C | CA408258678 | BMP2 | c.593A>C (p.Asn198Thr) c.125A>C (p.Asn42Thr) | |
20 | g.6778491A>G | CA408258676 | BMP2 | c.593A>G (p.Asn198Ser) c.125A>G (p.Asn42Ser) | |
20 | g.6778491A>T | CA408258677 | BMP2 | c.593A>T (p.Asn198Ile) c.125A>T (p.Asn42Ile) | |
20 | g.6778492T>A | CA408258679 | BMP2 | c.594T>A (p.Asn198Lys) c.126T>A (p.Asn42Lys) | |
20 | g.6778492T>C | CA509817794 | BMP2 | c.594T>C (p.Asn198=) c.126T>C (p.Asn42=) | |
20 | g.6778492T>G | CA408258680 | BMP2 | c.594T>G (p.Asn198Lys) c.126T>G (p.Asn42Lys) | |
20 | g.6778493C>A | CA408258681 | BMP2 | c.595C>A (p.Gln199Lys) c.127C>A (p.Gln43Lys) | |
20 | g.6778493C>G | CA408258682 | BMP2 | c.595C>G (p.Gln199Glu) c.127C>G (p.Gln43Glu) | |
20 | g.6778493C>T | CA408258683 | BMP2 | c.595C>T (p.Gln199Ter) c.127C>T (p.Gln43Ter) | |
20 | g.6778494A>C | CA408258684 | BMP2 | c.596A>C (p.Gln199Pro) c.128A>C (p.Gln43Pro) | |
20 | g.6778494A>G | CA408258685 | BMP2 | c.596A>G (p.Gln199Arg) c.128A>G (p.Gln43Arg) | |
20 | g.6778494A>T | CA408258686 | BMP2 | c.596A>T (p.Gln199Leu) c.128A>T (p.Gln43Leu) | |
20 | g.6778495G>A | CA9758709 | BMP2 | c.597G>A (p.Gln199=) c.129G>A (p.Gln43=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778495G>C | CA408258687 | BMP2 | c.597G>C (p.Gln199His) c.129G>C (p.Gln43His) | |
20 | g.6778495G= | CA2348112139 | BMP2 | c.597G= (p.Gln199=) c.129G= (p.Gln43=) | |
20 | g.6778495G>T | CA408258688 | BMP2 | c.597G>T (p.Gln199His) c.129G>T (p.Gln43His) | |
20 | g.6778496A>C | CA408258689 | BMP2 | c.598A>C (p.Asn200His) c.130A>C (p.Asn44His) | |
20 | g.6778496A>G | CA408258690 | BMP2 | c.598A>G (p.Asn200Asp) c.130A>G (p.Asn44Asp) | |
20 | g.6778496A>T | CA408258691 | BMP2 | c.598A>T (p.Asn200Tyr) c.130A>T (p.Asn44Tyr) | |
20 | g.6778497A>C | CA408258693 | BMP2 | c.599A>C (p.Asn200Thr) c.131A>C (p.Asn44Thr) | |
20 | g.6778497A>G | CA408258694 | BMP2 | c.599A>G (p.Asn200Ser) c.131A>G (p.Asn44Ser) | |
20 | g.6778497A>T | CA408258692 | BMP2 | c.599A>T (p.Asn200Ile) c.131A>T (p.Asn44Ile) | |
20 | g.6778498T>A | CA408258695 | BMP2 | c.600T>A (p.Asn200Lys) c.132T>A (p.Asn44Lys) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.6778498T>C | CA509817807 | BMP2 | c.600T>C (p.Asn200=) c.132T>C (p.Asn44=) | |
20 | g.6778498T>G | CA408258696 | BMP2 | c.600T>G (p.Asn200Lys) c.132T>G (p.Asn44Lys) | gnomAD v4 |
20 | g.6778498T= | CA2348112140 | BMP2 | c.600T= (p.Asn200=) c.132T= (p.Asn44=) | |
20 | g.6778499G>A | CA408258697 | BMP2 | c.601G>A (p.Ala201Thr) c.133G>A (p.Ala45Thr) | |
20 | g.6778499G>C | CA408258698 | BMP2 | c.601G>C (p.Ala201Pro) c.133G>C (p.Ala45Pro) | |
20 | g.6778499G>T | CA408258699 | BMP2 | c.601G>T (p.Ala201Ser) c.133G>T (p.Ala45Ser) | |
20 | g.6778500C>A | CA408258702 | BMP2 | c.602C>A (p.Ala201Glu) c.134C>A (p.Ala45Glu) | |
20 | g.6778500C>G | CA408258700 | BMP2 | c.602C>G (p.Ala201Gly) c.134C>G (p.Ala45Gly) | |
20 | g.6778500C>T | CA408258701 | BMP2 | c.602C>T (p.Ala201Val) c.134C>T (p.Ala45Val) | |
20 | g.6778501A>C | CA509817814 | BMP2 | c.603A>C (p.Ala201=) c.135A>C (p.Ala45=) | |
20 | g.6778501A>G | CA509817813 | BMP2 | c.603A>G (p.Ala201=) c.135A>G (p.Ala45=) | |
20 | g.6778501A>T | CA509817812 | BMP2 | c.603A>T (p.Ala201=) c.135A>T (p.Ala45=) | |
20 | g.6778502A= | CA2348112141 | BMP2 | c.604A= (p.Ser202=) c.136A= (p.Ser46=) | |
20 | g.6778502A>C | CA408258703 | BMP2 | c.604A>C (p.Ser202Arg) c.136A>C (p.Ser46Arg) | |
20 | g.6778502A>G | CA9758710 | BMP2 | c.604A>G (p.Ser202Gly) c.136A>G (p.Ser46Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778502A>T | CA408258704 | BMP2 | c.604A>T (p.Ser202Cys) c.136A>T (p.Ser46Cys) | |
20 | g.6778503G>A | CA408258705 | BMP2 | c.605G>A (p.Ser202Asn) c.137G>A (p.Ser46Asn) | dbSNP |
20 | g.6778503G>C | CA408258706 | BMP2 | c.605G>C (p.Ser202Thr) c.137G>C (p.Ser46Thr) | |
20 | g.6778503G= | CA2348112142 | BMP2 | c.605G= (p.Ser202=) c.137G= (p.Ser46=) | |
20 | g.6778503G>T | CA408258707 | BMP2 | c.605G>T (p.Ser202Ile) c.137G>T (p.Ser46Ile) | |
20 | g.6778504C>A | CA408258708 | BMP2 | c.606C>A (p.Ser202Arg) c.138C>A (p.Ser46Arg) | |
20 | g.6778504C>G | CA408258709 | BMP2 | c.606C>G (p.Ser202Arg) c.138C>G (p.Ser46Arg) | |
20 | g.6778504C>T | CA509817839 | BMP2 | c.606C>T (p.Ser202=) c.138C>T (p.Ser46=) | |
20 | g.6778505A= | CA2348112143 | BMP2 | c.607A= (p.Arg203=) c.139A= (p.Arg47=) | |
20 | g.6778505A>C | CA509817840 | BMP2 | c.607A>C (p.Arg203=) c.139A>C (p.Arg47=) | |
20 | g.6778505A>G | CA408258710 | BMP2 | c.607A>G (p.Arg203Gly) c.139A>G (p.Arg47Gly) | dbSNP gnomAD v4 |
20 | g.6778505A>T | CA408258711 | BMP2 | c.607A>T (p.Arg203Trp) c.139A>T (p.Arg47Trp) | |
20 | g.6778506G>A | CA9758711 | BMP2 | c.608G>A (p.Arg203Lys) c.140G>A (p.Arg47Lys) | dbSNP ExAC gnomAD v2 |
20 | g.6778506G>C | CA408258712 | BMP2 | c.608G>C (p.Arg203Thr) c.140G>C (p.Arg47Thr) | |
20 | g.6778506G= | CA2348112144 | BMP2 | c.608G= (p.Arg203=) c.140G= (p.Arg47=) | |
20 | g.6778506G>T | CA408258713 | BMP2 | c.608G>T (p.Arg203Met) c.140G>T (p.Arg47Met) | COSMIC |
20 | g.6778507G>A | CA509817846 | BMP2 | c.609G>A (p.Arg203=) c.141G>A (p.Arg47=) | dbSNP gnomAD v4 |
20 | g.6778507G>C | CA408258714 | BMP2 | c.609G>C (p.Arg203Ser) c.141G>C (p.Arg47Ser) | |
20 | g.6778507G= | CA2348112145 | BMP2 | c.609G= (p.Arg203=) c.141G= (p.Arg47=) | |
20 | g.6778507G>T | CA9758712 | BMP2 | c.609G>T (p.Arg203Ser) c.141G>T (p.Arg47Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778508T>A | CA408258715 | BMP2 | c.610T>A (p.Trp204Arg) c.142T>A (p.Trp48Arg) | |
20 | g.6778508T>C | CA408258716 | BMP2 | c.610T>C (p.Trp204Arg) c.142T>C (p.Trp48Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778508T>G | CA408258717 | BMP2 | c.610T>G (p.Trp204Gly) c.142T>G (p.Trp48Gly) | |
20 | g.6778508T= | CA2348112146 | BMP2 | c.610T= (p.Trp204=) c.142T= (p.Trp48=) | |
20 | g.6778509G>A | CA408258718 | BMP2 | c.611G>A (p.Trp204Ter) c.143G>A (p.Trp48Ter) | |
20 | g.6778509G>C | CA408258719 | BMP2 | c.611G>C (p.Trp204Ser) c.143G>C (p.Trp48Ser) | |
20 | g.6778509G>T | CA408258720 | BMP2 | c.611G>T (p.Trp204Leu) c.143G>T (p.Trp48Leu) | |
20 | g.6778509_6778522delinsGGGAAAGTTTTGAT | CA2348112147 | BMP2 | c.611_624delinsGGGAAAGTTTTGAT (p.Trp204=) c.143_156delinsGGGAAAGTTTTGAT (p.Trp48=) | |
20 | g.6778510G>A | CA408258723 | BMP2 | c.612G>A (p.Trp204Ter) c.144G>A (p.Trp48Ter) | |
20 | g.6778510G>C | CA408258721 | BMP2 | c.612G>C (p.Trp204Cys) c.144G>C (p.Trp48Cys) | |
20 | g.6778510G>T | CA408258722 | BMP2 | c.612G>T (p.Trp204Cys) c.144G>T (p.Trp48Cys) | |
20 | g.6778511_6778523del | CA1139666637 | BMP2 | c.613_625del (p.Glu205SerfsTer5) c.145_157del (p.Glu49SerfsTer5) | ClinVar dbSNP |
20 | g.6778511G>A | CA408258724 | BMP2 | c.613G>A (p.Glu205Lys) c.145G>A (p.Glu49Lys) | |
20 | g.6778511G>C | CA408258725 | BMP2 | c.613G>C (p.Glu205Gln) c.145G>C (p.Glu49Gln) | |
20 | g.6778511G>T | CA408258726 | BMP2 | c.613G>T (p.Glu205Ter) c.145G>T (p.Glu49Ter) | ClinVar |
20 | g.6778512A>C | CA408258727 | BMP2 | c.614A>C (p.Glu205Ala) c.146A>C (p.Glu49Ala) | |
20 | g.6778512A>G | CA408258728 | BMP2 | c.614A>G (p.Glu205Gly) c.146A>G (p.Glu49Gly) | |
20 | g.6778512A>T | CA408258729 | BMP2 | c.614A>T (p.Glu205Val) c.146A>T (p.Glu49Val) | |
20 | g.6778513A= | CA2348112148 | BMP2 | c.615A= (p.Glu205=) c.147A= (p.Glu49=) | |
20 | g.6778513A>C | CA408258730 | BMP2 | c.615A>C (p.Glu205Asp) c.147A>C (p.Glu49Asp) | |
20 | g.6778513A>G | CA9758713 | BMP2 | c.615A>G (p.Glu205=) c.147A>G (p.Glu49=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778513A>T | CA408258731 | BMP2 | c.615A>T (p.Glu205Asp) c.147A>T (p.Glu49Asp) | |
20 | g.6778514A>C | CA408258732 | BMP2 | c.616A>C (p.Ser206Arg) c.148A>C (p.Ser50Arg) | gnomAD v4 |
20 | g.6778514A>G | CA408258733 | BMP2 | c.616A>G (p.Ser206Gly) c.148A>G (p.Ser50Gly) | |
20 | g.6778514A>T | CA408258734 | BMP2 | c.616A>T (p.Ser206Cys) c.148A>T (p.Ser50Cys) | |
20 | g.6778515G>A | CA408258735 | BMP2 | c.617G>A (p.Ser206Asn) c.149G>A (p.Ser50Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778515G>C | CA408258737 | BMP2 | c.617G>C (p.Ser206Thr) c.149G>C (p.Ser50Thr) | |
20 | g.6778515G= | CA2348112149 | BMP2 | c.617G= (p.Ser206=) c.149G= (p.Ser50=) | |
20 | g.6778515G>T | CA408258736 | BMP2 | c.617G>T (p.Ser206Ile) c.149G>T (p.Ser50Ile) | |
20 | g.6778516T>A | CA408258738 | BMP2 | c.618T>A (p.Ser206Arg) c.150T>A (p.Ser50Arg) | |
20 | g.6778516T>C | CA509817860 | BMP2 | c.618T>C (p.Ser206=) c.150T>C (p.Ser50=) | gnomAD v4 |
20 | g.6778516T>G | CA408258739 | BMP2 | c.618T>G (p.Ser206Arg) c.150T>G (p.Ser50Arg) | |
20 | g.6778517T>A | CA408258740 | BMP2 | c.619T>A (p.Phe207Ile) c.151T>A (p.Phe51Ile) | |
20 | g.6778517T>C | CA408258742 | BMP2 | c.619T>C (p.Phe207Leu) c.151T>C (p.Phe51Leu) | |
20 | g.6778517T>G | CA408258741 | BMP2 | c.619T>G (p.Phe207Val) c.151T>G (p.Phe51Val) | |
20 | g.6778518T>A | CA408258743 | BMP2 | c.620T>A (p.Phe207Tyr) c.152T>A (p.Phe51Tyr) | |
20 | g.6778518T>C | CA408258744 | BMP2 | c.620T>C (p.Phe207Ser) c.152T>C (p.Phe51Ser) | |
20 | g.6778518T>G | CA408258745 | BMP2 | c.620T>G (p.Phe207Cys) c.152T>G (p.Phe51Cys) | |
20 | g.6778519T>A | CA408258746 | BMP2 | c.621T>A (p.Phe207Leu) c.153T>A (p.Phe51Leu) | |
20 | g.6778519T>C | CA509817867 | BMP2 | c.621T>C (p.Phe207=) c.153T>C (p.Phe51=) | |
20 | g.6778519T>G | CA408258747 | BMP2 | c.621T>G (p.Phe207Leu) c.153T>G (p.Phe51Leu) | |
20 | g.6778520G>A | CA408258748 | BMP2 | c.622G>A (p.Asp208Asn) c.154G>A (p.Asp52Asn) | |
20 | g.6778520G>C | CA408258749 | BMP2 | c.622G>C (p.Asp208His) c.154G>C (p.Asp52His) | |
20 | g.6778520G>T | CA408258750 | BMP2 | c.622G>T (p.Asp208Tyr) c.154G>T (p.Asp52Tyr) | |
20 | g.6778521A= | CA2348112150 | BMP2 | c.623A= (p.Asp208=) c.155A= (p.Asp52=) | |
20 | g.6778521A>C | CA408258751 | BMP2 | c.623A>C (p.Asp208Ala) c.155A>C (p.Asp52Ala) | |
20 | g.6778521A>G | CA408258752 | BMP2 | c.623A>G (p.Asp208Gly) c.155A>G (p.Asp52Gly) | COSMIC |
20 | g.6778521A>T | CA9758714 | BMP2 | c.623A>T (p.Asp208Val) c.155A>T (p.Asp52Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778522T>A | CA408258754 | BMP2 | c.624T>A (p.Asp208Glu) c.156T>A (p.Asp52Glu) | |
20 | g.6778522T>C | CA9758715 | BMP2 | c.624T>C (p.Asp208=) c.156T>C (p.Asp52=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778522T>G | CA408258753 | BMP2 | c.624T>G (p.Asp208Glu) c.156T>G (p.Asp52Glu) | |
20 | g.6778522T= | CA2348112151 | BMP2 | c.624T= (p.Asp208=) c.156T= (p.Asp52=) | |
20 | g.6778523G>A | CA408258755 | BMP2 | c.625G>A (p.Val209Ile) c.157G>A (p.Val53Ile) | |
20 | g.6778523G>C | CA408258756 | BMP2 | c.625G>C (p.Val209Leu) c.157G>C (p.Val53Leu) | |
20 | g.6778523G>T | CA408258757 | BMP2 | c.625G>T (p.Val209Phe) c.157G>T (p.Val53Phe) | |
20 | g.6778524T>A | CA408258758 | BMP2 | c.626T>A (p.Val209Asp) c.158T>A (p.Val53Asp) | |
20 | g.6778524T>C | CA408258759 | BMP2 | c.626T>C (p.Val209Ala) c.158T>C (p.Val53Ala) | |
20 | g.6778524T>G | CA408258760 | BMP2 | c.626T>G (p.Val209Gly) c.158T>G (p.Val53Gly) | |
20 | g.6778525C>A | CA509817880 | BMP2 | c.627C>A (p.Val209=) c.159C>A (p.Val53=) | |
20 | g.6778525C>G | CA509817881 | BMP2 | c.627C>G (p.Val209=) c.159C>G (p.Val53=) | |
20 | g.6778525C>T | CA509817882 | BMP2 | c.627C>T (p.Val209=) c.159C>T (p.Val53=) | |
20 | g.6778526A>C | CA408258761 | BMP2 | c.628A>C (p.Thr210Pro) c.160A>C (p.Thr54Pro) | |
20 | g.6778526A>G | CA408258762 | BMP2 | c.628A>G (p.Thr210Ala) c.160A>G (p.Thr54Ala) | |
20 | g.6778526A>T | CA408258763 | BMP2 | c.628A>T (p.Thr210Ser) c.160A>T (p.Thr54Ser) | |
20 | g.6778527C>A | CA408258764 | BMP2 | c.629C>A (p.Thr210Asn) c.161C>A (p.Thr54Asn) | |
20 | g.6778527C= | CA2348112152 | BMP2 | c.629C= (p.Thr210=) c.161C= (p.Thr54=) | |
20 | g.6778527C>G | CA408258765 | BMP2 | c.629C>G (p.Thr210Ser) c.161C>G (p.Thr54Ser) | |
20 | g.6778527C>T | CA311471923 | BMP2 | c.629C>T (p.Thr210Ile) c.161C>T (p.Thr54Ile) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.6778528C>A | CA509817885 | BMP2 | c.630C>A (p.Thr210=) c.162C>A (p.Thr54=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778528C= | CA2348112153 | BMP2 | c.630C= (p.Thr210=) c.162C= (p.Thr54=) | |
20 | g.6778528C>G | CA509817886 | BMP2 | c.630C>G (p.Thr210=) c.162C>G (p.Thr54=) | |
20 | g.6778528C>T | CA10587357 | BMP2 | c.630C>T (p.Thr210=) c.162C>T (p.Thr54=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.6778529C>A | CA408258768 | BMP2 | c.631C>A (p.Pro211Thr) c.163C>A (p.Pro55Thr) | |
20 | g.6778529C>G | CA408258766 | BMP2 | c.631C>G (p.Pro211Ala) c.163C>G (p.Pro55Ala) | gnomAD v4 |
20 | g.6778529C>T | CA408258767 | BMP2 | c.631C>T (p.Pro211Ser) c.163C>T (p.Pro55Ser) | |
20 | g.6778530C>A | CA408258769 | BMP2 | c.632C>A (p.Pro211His) c.164C>A (p.Pro55His) | |
20 | g.6778530C= | CA2348112154 | BMP2 | c.632C= (p.Pro211=) c.164C= (p.Pro55=) | |
20 | g.6778530C>G | CA408258770 | BMP2 | c.632C>G (p.Pro211Arg) c.164C>G (p.Pro55Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.6778530C>T | CA408258771 | BMP2 | c.632C>T (p.Pro211Leu) c.164C>T (p.Pro55Leu) | |
20 | g.6778531C>A | CA509818015 | BMP2 | c.633C>A (p.Pro211=) c.165C>A (p.Pro55=) | |
20 | g.6778531C= | CA2348112155 | BMP2 | c.633C= (p.Pro211=) c.165C= (p.Pro55=) | |
20 | g.6778531C>G | CA9758717 | BMP2 | c.633C>G (p.Pro211=) c.165C>G (p.Pro55=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778531C>T | CA9758716 | BMP2 | c.633C>T (p.Pro211=) c.165C>T (p.Pro55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.6778532G>A | CA9758719 | BMP2 | c.634G>A (p.Ala212Thr) c.166G>A (p.Ala56Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778532G>C | CA9758718 | BMP2 | c.634G>C (p.Ala212Pro) c.166G>C (p.Ala56Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778532G= | CA2348112156 | BMP2 | c.634G= (p.Ala212=) c.166G= (p.Ala56=) | |
20 | g.6778532G>T | CA408258772 | BMP2 | c.634G>T (p.Ala212Ser) c.166G>T (p.Ala56Ser) | dbSNP gnomAD v4 |
20 | g.6778533C>A | CA408258773 | BMP2 | c.635C>A (p.Ala212Asp) c.167C>A (p.Ala56Asp) | |
20 | g.6778533C>G | CA408258774 | BMP2 | c.635C>G (p.Ala212Gly) c.167C>G (p.Ala56Gly) | |
20 | g.6778533C>T | CA408258775 | BMP2 | c.635C>T (p.Ala212Val) c.167C>T (p.Ala56Val) | |
20 | g.6778534T>A | CA509818018 | BMP2 | c.636T>A (p.Ala212=) c.168T>A (p.Ala56=) | |
20 | g.6778534T>C | CA9758720 | BMP2 | c.636T>C (p.Ala212=) c.168T>C (p.Ala56=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778534T>G | CA509818019 | BMP2 | c.636T>G (p.Ala212=) c.168T>G (p.Ala56=) | gnomAD v4 |
20 | g.6778534T= | CA2348112157 | BMP2 | c.636T= (p.Ala212=) c.168T= (p.Ala56=) | |
20 | g.6778535G>A | CA408258776 | BMP2 | c.637G>A (p.Val213Met) c.169G>A (p.Val57Met) | |
20 | g.6778535G>C | CA408258777 | BMP2 | c.637G>C (p.Val213Leu) c.169G>C (p.Val57Leu) | |
20 | g.6778535G>T | CA408258778 | BMP2 | c.637G>T (p.Val213Leu) c.169G>T (p.Val57Leu) | gnomAD v4 |