1 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) |
SNV |
Likely pathogenic, risk factor |
5302 |
rs34557412 |
17:16852187-16852187 |
17:16948873-16948873 |
2 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.492C>G (p.Tyr164Ter) |
SNV |
Pathogenic |
203368 |
rs72553882 |
17:16843779-16843779 |
17:16940465-16940465 |
3 |
TNFRSF13B |
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter) |
SNV |
Pathogenic |
840923 |
|
17:16855761-16855761 |
17:16952447-16952447 |
4 |
TNFRSF13B |
TNFRSF13B, 1-BP INS, 204A |
Insertion |
Pathogenic |
5305 |
|
|
|
5 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.579C>A (p.Cys193Ter) |
SNV |
Pathogenic |
657318 |
rs72553885 |
17:16843692-16843692 |
17:16940378-16940378 |
6 |
TNFRSF13B |
NM_012452.3(TNFRSF13B):c.62-1G>A |
SNV |
Pathogenic |
853184 |
|
17:16855898-16855898 |
17:16952584-16952584 |
7 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) |
Indel |
Pathogenic |
5306 |
rs121908379 |
17:16843689-16843690 |
17:16940375-16940376 |
8 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.61+1G>T |
SNV |
Pathogenic |
647267 |
rs1016142312 |
17:16875328-16875328 |
17:16972014-16972014 |
9 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.49del (p.Gln17fs) |
Deletion |
Pathogenic |
538707 |
rs1555550717 |
17:16875341-16875341 |
17:16972027-16972027 |
10 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.431C>A (p.Ser144Ter) |
SNV |
Pathogenic |
5307 |
rs104894650 |
17:16852066-16852066 |
17:16948752-16948752 |
11 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.572dup (p.Asp191fs) |
Duplication |
Pathogenic |
582925 |
rs769165409 |
17:16843698-16843699 |
17:16940384-16940385 |
12 |
TNFRSF13B |
NM_012452.3(TNFRSF13B):c.222_226GCAAG[1] (p.Gly76fs) |
Microsatellite |
Pathogenic |
657940 |
rs1265262160 |
17:16852266-16852270 |
17:16948952-16948956 |
13 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.431C>G (p.Ser144Ter) |
SNV |
Pathogenic |
265340 |
rs104894650 |
17:16852066-16852066 |
17:16948752-16948752 |
14 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.95_96dupGA |
Microsatellite |
Pathogenic |
647108 |
rs1303637368 |
17:16855862-16855863 |
17:16952548-16952549 |
15 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.204dup (p.Leu69fs) |
Duplication |
Pathogenic/Likely pathogenic |
322029 |
rs72553875 |
17:16852292-16852293 |
17:16948978-16948979 |
16 |
TNFRSF13B |
NM_012452.3(TNFRSF13B):c.61+2T>A |
SNV |
Likely pathogenic |
942527 |
|
17:16875327-16875327 |
17:16972013-16972013 |
17 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.311G>A (p.Cys104Tyr) |
SNV |
Likely pathogenic |
645207 |
rs72553879 |
17:16852186-16852186 |
17:16948872-16948872 |
18 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.260T>A (p.Ile87Asn) |
SNV |
Likely pathogenic |
618436 |
rs72553877 |
17:16852237-16852237 |
17:16948923-16948923 |
19 |
CR2 |
NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter) |
SNV |
Likely pathogenic |
930314 |
|
1:207648179-207648179 |
1:207474834-207474834 |
20 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) |
SNV |
Likely pathogenic |
5303 |
rs72553883 |
17:16843729-16843729 |
17:16940415-16940415 |
21 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.566G>T (p.Arg189Met) |
SNV |
Uncertain significance |
471369 |
rs199777698 |
17:16843705-16843705 |
17:16940391-16940391 |
22 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys) |
SNV |
Uncertain significance |
281110 |
rs72553876 |
17:16852261-16852261 |
17:16948947-16948947 |
23 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg) |
SNV |
Uncertain significance |
440340 |
rs143027621 |
17:16843759-16843759 |
17:16940445-16940445 |
24 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.604C>T (p.Arg202Cys) |
SNV |
Uncertain significance |
618435 |
rs143562358 |
17:16843667-16843667 |
17:16940353-16940353 |
25 |
TNFRSF13B |
NM_012452.3(TNFRSF13B):c.350_356del (p.Glu117fs) |
Deletion |
Uncertain significance |
973680 |
|
17:16852141-16852147 |
17:16948827-16948833 |
26 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.145T>C (p.Ser49Pro) |
SNV |
Uncertain significance |
626190 |
rs374547688 |
17:16855814-16855814 |
17:16952500-16952500 |
27 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.58C>T (p.Arg20Cys) |
SNV |
Uncertain significance |
577672 |
rs200013015 |
17:16875332-16875332 |
17:16972018-16972018 |
28 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.145T>C (p.Ser49Pro) |
SNV |
Uncertain significance |
626190 |
rs374547688 |
17:16855814-16855814 |
17:16952500-16952500 |
29 |
TNFRSF13C |
NM_052945.3(TNFRSF13C):c.317G>A (p.Arg106Gln) |
SNV |
Uncertain significance |
341877 |
rs150374940 |
22:42322155-42322155 |
22:41926151-41926151 |
30 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.41G>A (p.Arg14His) |
SNV |
Uncertain significance |
618434 |
rs200309474 |
17:16875349-16875349 |
17:16972035-16972035 |
31 |
TNFRSF13B |
NM_012452.3(TNFRSF13B):c.118T>C (p.Trp40Arg) |
SNV |
Uncertain significance |
803326 |
rs72553874 |
17:16855841-16855841 |
17:16952527-16952527 |
32 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.823C>T (p.Pro275Ser) |
SNV |
Uncertain significance |
640348 |
rs540918755 |
17:16842920-16842920 |
17:16939606-16939606 |
33 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.857C>T (p.Ala286Val) |
SNV |
Uncertain significance |
641380 |
rs886052652 |
17:16842886-16842886 |
17:16939572-16939572 |
34 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.227G>A (p.Gly76Asp) |
SNV |
Uncertain significance |
641589 |
rs772701872 |
17:16852270-16852270 |
17:16948956-16948956 |
35 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.543G>A (p.Ala181=) |
SNV |
Uncertain significance |
641717 |
rs746018705 |
17:16843728-16843728 |
17:16940414-16940414 |
36 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.346C>A (p.Pro116Thr) |
SNV |
Uncertain significance |
643189 |
rs757399024 |
17:16852151-16852151 |
17:16948837-16948837 |
37 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.21C>T (p.Ser7=) |
SNV |
Uncertain significance |
657354 |
rs780461208 |
17:16875369-16875369 |
17:16972055-16972055 |
38 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.567_568delinsTT (p.Arg189_Gly190delinsSerTrp) |
Indel |
Uncertain significance |
660587 |
rs1597656815 |
17:16843703-16843704 |
17:16940389-16940390 |
39 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.722C>T (p.Thr241Met) |
SNV |
Uncertain significance |
660768 |
rs370250196 |
17:16843021-16843021 |
17:16939707-16939707 |
40 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.453G>C (p.Pro151=) |
SNV |
Uncertain significance |
221902 |
rs768819413 |
17:16843818-16843818 |
17:16940504-16940504 |
41 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.567G>C (p.Arg189Ser) |
SNV |
Uncertain significance |
661773 |
rs370856157 |
17:16843704-16843704 |
17:16940390-16940390 |
42 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.638C>T (p.Ala213Val) |
SNV |
Uncertain significance |
661816 |
rs763164041 |
17:16843105-16843105 |
17:16939791-16939791 |
43 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.178C>T (p.Arg60Cys) |
SNV |
Uncertain significance |
664687 |
rs777555444 |
17:16855781-16855781 |
17:16952467-16952467 |
44 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.*86_*88del |
Deletion |
Uncertain significance |
36880 |
rs150068036 |
17:16842773-16842775 |
17:16939459-16939461 |
45 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.716C>T (p.Ala239Val) |
SNV |
Uncertain significance |
471370 |
rs375891337 |
17:16843027-16843027 |
17:16939713-16939713 |
46 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.706G>T (p.Glu236Ter) |
SNV |
Uncertain significance |
538709 |
rs201021960 |
17:16843037-16843037 |
17:16939723-16939723 |
47 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.828C>G (p.Asp276Glu) |
SNV |
Uncertain significance |
538710 |
rs144383122 |
17:16842915-16842915 |
17:16939601-16939601 |
48 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.592C>T (p.Arg198Cys) |
SNV |
Uncertain significance |
322026 |
rs140781824 |
17:16843679-16843679 |
17:16940365-16940365 |
49 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.740C>T (p.Thr247Met) |
SNV |
Uncertain significance |
568673 |
rs149635611 |
17:16843003-16843003 |
17:16939689-16939689 |
50 |
TNFRSF13B |
NM_012452.2(TNFRSF13B):c.76T>C (p.Trp26Arg) |
SNV |
Uncertain significance |
576346 |
rs773591883 |
17:16855883-16855883 |
17:16952569-16952569 |