NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)
|
rs143511494
|
0.00006
|
NM_002546.4(TNFRSF11B):c.349T>C (p.Phe117Leu)
|
rs104894092
|
0.00003
|
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)
|
rs757212984
|
0.00002
|
NM_002546.4(TNFRSF11B):c.997C>T (p.Arg333Ter)
|
rs1307942060
|
0.00001
|
NM_003900.5(SQSTM1):c.1165+1G>A
|
rs796051870
|
0.00001
|
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln)
|
rs1391182750
|
0.00001
|
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)
|
rs771966860
|
0.00001
|
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)
|
rs886039782
|
0.00001
|
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)
|
rs1185406298
|
0.00001
|
NC_000008.11:g.(118690580_118696647)_(118950613_118950848)del
|
|
|
NM_002546.4(TNFRSF11B):c.226A>C (p.Thr76Pro)
|
rs200071478
|
|
NM_002546.4(TNFRSF11B):c.260G>A (p.Cys87Tyr)
|
rs104894091
|
|
NM_002546.4(TNFRSF11B):c.544_546del (p.Asp182del)
|
rs796051868
|
|
NM_002546.4(TNFRSF11B):c.966_969delinsCTT (p.Asp323fs)
|
rs2129878039
|
|
NM_003839.4(TNFRSF11A):c.39_65dup (p.Leu14_Ala22dup)
|
rs796051862
|
|
NM_003839.4(TNFRSF11A):c.45_62dup (p.Leu16_Leu21dup)
|
rs886037749
|
|
NM_003839.4(TNFRSF11A):c.49_63dup (p.Leu17_Leu21dup)
|
rs1555767678
|
|
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter)
|
rs765610848
|
|
NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)
|
|
|
NM_003900.5(SQSTM1):c.1132A>T (p.Lys378Ter)
|
rs796052213
|
|
NM_003900.5(SQSTM1):c.1170del (p.Asp391fs)
|
rs1758558921
|
|
NM_003900.5(SQSTM1):c.1175del (p.Pro392fs)
|
|
|
NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter)
|
rs1254158201
|
|
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr)
|
rs1247551175
|
|
NM_003900.5(SQSTM1):c.1224dup (p.Glu409Ter)
|
rs796051869
|
|
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter)
|
rs1425863340
|
|
NM_003900.5(SQSTM1):c.259_260insATGCCTTTTCCAGTGACGAGGAATTGACGAGGAAT (p.Met87fs)
|
|
|
NM_003900.5(SQSTM1):c.301+1G>T
|
rs2113485289
|
|
NM_003900.5(SQSTM1):c.309dup (p.Glu104fs)
|
|
|
NM_003900.5(SQSTM1):c.415del (p.Arg139fs)
|
rs2113487920
|
|
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs)
|
rs1331685476
|
|
NM_003900.5(SQSTM1):c.763dup (p.Val255fs)
|
|
|
NM_003900.5(SQSTM1):c.810del (p.Val271fs)
|
rs1758316662
|
|
NM_003900.5(SQSTM1):c.815_818del (p.Val271_Ser272insTer)
|
|
|
NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)
|
|
|
NM_003900.5(SQSTM1):c.823_824del (p.Ser275fs)
|
rs1273214757
|
|
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)
|
|
|
NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)
|
|
|
NM_003900.5(SQSTM1):c.979dup (p.Glu327fs)
|
|
|
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg)
|
rs148402804
|
|
NM_020832.3(ZNF687):c.725G>T (p.Ser242Ile)
|
rs869025582
|
|
nsv513786
|
|
|