1 |
TNFRSF11A |
NM_003839.4(TNFRSF11A):c.49_63dup (p.Leu17_Leu21dup) |
DUP |
Pathogenic
|
208144 |
rs1555767678 |
GRCh37: 18:59992633-59992634 GRCh38: 18:62325400-62325401 |
2 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter) |
SNV |
Pathogenic
|
1319146 |
|
GRCh37: 5:179260671-179260671 GRCh38: 5:179833671-179833671 |
3 |
SQSTM1 |
NM_003900.5(SQSTM1):c.301+1G>T |
SNV |
Pathogenic
|
1387627 |
|
GRCh37: 5:179250054-179250054 GRCh38: 5:179823054-179823054 |
4 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser) |
SNV |
Pathogenic
|
1458052 |
|
GRCh37: 5:179263501-179263501 GRCh38: 5:179836501-179836501 |
5 |
SQSTM1 |
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter) |
SNV |
Pathogenic
|
1076912 |
|
GRCh37: 5:179249996-179249996 GRCh38: 5:179822996-179822996 |
6 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln) |
SNV |
Pathogenic
|
1459183 |
|
GRCh37: 5:179260782-179260782 GRCh38: 5:179833782-179833782 |
7 |
SQSTM1 |
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter) |
SNV |
Pathogenic
|
642133 |
rs1185406298 |
GRCh37: 5:179260612-179260612 GRCh38: 5:179833612-179833612 |
8 |
SQSTM1 |
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs) |
DEL |
Pathogenic
|
503881 |
rs1331685476 |
GRCh37: 5:179251079-179251082 GRCh38: 5:179824079-179824082 |
9 |
SQSTM1 |
NM_003900.5(SQSTM1):c.810del (p.Val271fs) |
DEL |
Pathogenic
|
967349 |
rs1758316662 |
GRCh37: 5:179260083-179260083 GRCh38: 5:179833083-179833083 |
10 |
TNFRSF11A |
NM_003839.4(TNFRSF11A):c.39_65dup (p.Leu14_Ala22dup) |
DUP |
Pathogenic
|
6300 |
rs796051862 |
GRCh37: 18:59992619-59992620 GRCh38: 18:62325386-62325387 |
11 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter) |
DUP |
Pathogenic
|
835699 |
rs1254158201 |
GRCh37: 5:179263453-179263454 GRCh38: 5:179836453-179836454 |
12 |
TNFRSF11A |
NM_003839.4(TNFRSF11A):c.45_62dup (p.Leu16_Leu21dup) |
DUP |
Pathogenic
|
208143 |
rs886037749 |
GRCh37: 18:59992620-59992621 GRCh38: 18:62325387-62325388 |
13 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr) |
SNV |
Pathogenic
|
855037 |
rs1247551175 |
GRCh37: 5:179263481-179263481 GRCh38: 5:179836481-179836481 |
14 |
SQSTM1 |
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter) |
SNV |
Pathogenic
|
265782 |
rs886039782 |
GRCh37: 5:179250038-179250038 GRCh38: 5:179823038-179823038 |
15 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1170del (p.Asp391fs) |
DEL |
Pathogenic
|
1069495 |
|
GRCh37: 5:179263440-179263440 GRCh38: 5:179836440-179836440 |
16 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val) |
SNV |
Pathogenic
|
1071292 |
|
GRCh37: 5:179263480-179263480 GRCh38: 5:179836480-179836480 |
17 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg) |
SNV |
Pathogenic
|
1163456 |
|
GRCh37: 5:179263543-179263543 GRCh38: 5:179836543-179836543 |
18 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1165+1G>A |
SNV |
Pathogenic
|
8110 |
rs796051870 |
GRCh37: 5:179260783-179260783 GRCh38: 5:179833783-179833783 |
19 |
SQSTM1 |
NM_003900.5(SQSTM1):c.970-2A>G |
SNV |
Likely Pathogenic
|
1473565 |
|
GRCh37: 5:179260585-179260585 GRCh38: 5:179833585-179833585 |
20 |
SQSTM1 |
NC_000005.9:g.(?_179260012)_(179260802_?)del |
DEL |
Uncertain Significance
|
1448318 |
|
GRCh37: 5:179260012-179260802 GRCh38: |
21 |
SQSTM1 |
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln) |
SNV |
Uncertain Significance
|
1448375 |
|
GRCh37: 5:179251207-179251207 GRCh38: 5:179824207-179824207 |
22 |
SQSTM1 |
NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser) |
SNV |
Uncertain Significance
|
1433383 |
|
GRCh37: 5:179260241-179260241 GRCh38: 5:179833241-179833241 |
23 |
SQSTM1 |
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr) |
SNV |
Uncertain Significance
|
1493743 |
|
GRCh37: 5:179250941-179250941 GRCh38: 5:179823941-179823941 |
24 |
SQSTM1 |
NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met) |
SNV |
Uncertain Significance
|
1494010 |
|
GRCh37: 5:179260048-179260048 GRCh38: 5:179833048-179833048 |
25 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr) |
SNV |
Uncertain Significance
|
1436054 |
|
GRCh37: 5:179263546-179263546 GRCh38: 5:179836546-179836546 |
26 |
SQSTM1 |
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu) |
SNV |
Uncertain Significance
|
1468320 |
|
GRCh37: 5:179260615-179260615 GRCh38: 5:179833615-179833615 |
27 |
SQSTM1 |
NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly) |
SNV |
Uncertain Significance
|
1483836 |
|
GRCh37: 5:179251284-179251284 GRCh38: 5:179824284-179824284 |
28 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu) |
SNV |
Uncertain Significance
|
1498798 |
|
GRCh37: 5:179260686-179260686 GRCh38: 5:179833686-179833686 |
29 |
SQSTM1 |
NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp) |
SNV |
Uncertain Significance
|
1449965 |
|
GRCh37: 5:179250875-179250875 GRCh38: 5:179823875-179823875 |
30 |
SQSTM1 |
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp) |
SNV |
Uncertain Significance
|
1476497 |
|
GRCh37: 5:179252175-179252175 GRCh38: 5:179825175-179825175 |
31 |
SQSTM1 |
NM_003900.5(SQSTM1):c.173_175del (p.Leu58del) |
DEL |
Uncertain Significance
|
1511548 |
|
GRCh37: 5:179248107-179248109 GRCh38: 5:179821107-179821109 |
32 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe) |
SNV |
Uncertain Significance
|
1497467 |
|
GRCh37: 5:179260726-179260726 GRCh38: 5:179833726-179833726 |
33 |
SQSTM1 |
NM_003900.5(SQSTM1):c.575A>G (p.His192Arg) |
SNV |
Uncertain Significance
|
1521767 |
|
GRCh37: 5:179251225-179251225 GRCh38: 5:179824225-179824225 |
34 |
SQSTM1 |
NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly) |
SNV |
Uncertain Significance
|
1498386 |
|
GRCh37: 5:179260124-179260124 GRCh38: 5:179833124-179833124 |
35 |
SQSTM1 |
NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr) |
SNV |
Uncertain Significance
|
1351752 |
|
GRCh37: 5:179260184-179260184 GRCh38: 5:179833184-179833184 |
36 |
SQSTM1 |
NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys) |
SNV |
Uncertain Significance
|
1418751 |
|
GRCh37: 5:179251083-179251083 GRCh38: 5:179824083-179824083 |
37 |
SQSTM1 |
NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn) |
SNV |
Uncertain Significance
|
1442932 |
|
GRCh37: 5:179250026-179250026 GRCh38: 5:179823026-179823026 |
38 |
SQSTM1 |
NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr) |
SNV |
Uncertain Significance
|
1461746 |
|
GRCh37: 5:179251272-179251272 GRCh38: 5:179824272-179824272 |
39 |
SQSTM1 |
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys) |
SNV |
Uncertain Significance
|
1439801 |
|
GRCh37: 5:179251284-179251284 GRCh38: 5:179824284-179824284 |
40 |
SQSTM1 |
NM_003900.4(SQSTM1):c.970del |
DEL |
Uncertain Significance
|
542159 |
rs758377403 |
GRCh37: 5:179260586-179260586 GRCh38: 5:179833586-179833586 |
41 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) |
SNV |
Uncertain Significance
|
202211 |
rs776749939 |
GRCh37: 5:179260777-179260777 GRCh38: 5:179833777-179833777 |
42 |
SQSTM1 |
NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val) |
SNV |
Uncertain Significance
|
1392396 |
|
GRCh37: 5:179260046-179260046 GRCh38: 5:179833046-179833046 |
43 |
TNFRSF11A |
NM_003839.4(TNFRSF11A):c.1018T>A (p.Phe340Ile) |
SNV |
Uncertain Significance
|
891182 |
rs764498229 |
GRCh37: 18:60036168-60036168 GRCh38: 18:62368935-62368935 |
44 |
TNFRSF11A |
NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val) |
SNV |
Uncertain Significance
|
327738 |
rs117028614 |
GRCh37: 18:60052034-60052034 GRCh38: 18:62384801-62384801 |
45 |
SQSTM1 |
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr) |
SNV |
Uncertain Significance
|
1717299 |
|
GRCh37: 5:179252170-179252170 GRCh38: 5:179825170-179825170 |
46 |
SQSTM1 |
NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly) |
SNV |
Uncertain Significance
|
1713579 |
|
GRCh37: 5:179248040-179248040 GRCh38: 5:179821040-179821040 |
47 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu) |
SNV |
Uncertain Significance
|
1719509 |
|
GRCh37: 5:179260721-179260721 GRCh38: 5:179833721-179833721 |
48 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys) |
SNV |
Uncertain Significance
|
1719645 |
|
GRCh37: 5:179263468-179263468 GRCh38: 5:179836468-179836468 |
49 |
SQSTM1 |
NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile) |
SNV |
Uncertain Significance
|
1472643 |
|
GRCh37: 5:179247939-179247939 GRCh38: 5:179820939-179820939 |
50 |
SQSTM1 |
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro) |
SNV |
Uncertain Significance
|
1434014 |
|
GRCh37: 5:179263558-179263558 GRCh38: 5:179836558-179836558 |