1 |
GJB6 |
NC_000013.10:g.(?_20797176)_21105944del |
DEL |
Pathogenic
|
1072828 |
|
GRCh37: GRCh38: |
2 |
GJB6 |
NM_001110219.3(GJB6):c.110T>A (p.Val37Glu) |
SNV |
Pathogenic
|
5547 |
rs104894416 |
GRCh37: 13:20797510-20797510 GRCh38: 13:20223371-20223371 |
3 |
GJB6 |
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) |
SNV |
Pathogenic
Pathogenic
|
5545 |
rs28937872 |
GRCh37: 13:20797357-20797357 GRCh38: 13:20223218-20223218 |
4 |
GJB6 |
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) |
SNV |
Pathogenic
Pathogenic
Pathogenic
|
5544 |
rs104894415 |
GRCh37: 13:20797589-20797589 GRCh38: 13:20223450-20223450 |
5 |
GJB6 |
NM_001110219.3(GJB6):c.63del (p.Lys22fs) |
DEL |
Likely Pathogenic
Uncertain Significance
|
311382 |
rs770612890 |
GRCh37: 13:20797557-20797557 GRCh38: 13:20223418-20223418 |
6 |
GJB6 |
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) |
SNV |
Uncertain Significance
|
536989 |
rs141752846 |
GRCh37: 13:20796989-20796989 GRCh38: 13:20222850-20222850 |
7 |
GJB6 |
NM_001110219.3(GJB6):c.228del (p.Trp77fs) |
DEL |
Uncertain Significance
|
837505 |
rs751484173 |
GRCh37: 13:20797392-20797392 GRCh38: 13:20223253-20223253 |
8 |
GJB6 |
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) |
SNV |
Uncertain Significance
|
663718 |
rs571454176 |
GRCh37: 13:20797319-20797319 GRCh38: 13:20223180-20223180 |
9 |
GJB6 |
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) |
SNV |
Uncertain Significance
Likely Benign
|
311383 |
rs778513540 |
GRCh37: 13:20797560-20797560 GRCh38: 13:20223421-20223421 |
10 |
GJB6 |
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) |
SNV |
Uncertain Significance
Uncertain Significance
|
311379 |
rs199790650 |
GRCh37: 13:20796940-20796940 GRCh38: 13:20222801-20222801 |
11 |
GJB6 |
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) |
SNV |
Uncertain Significance
Likely Benign
|
196442 |
rs371123633 |
GRCh37: 13:20797443-20797443 GRCh38: 13:20223304-20223304 |
12 |
GJB6 |
NM_001110219.3(GJB6):c.405G>A (p.Thr135=) |
SNV |
Uncertain Significance
Likely Benign
|
311381 |
rs145438428 |
GRCh37: 13:20797215-20797215 GRCh38: 13:20223076-20223076 |
13 |
GJB6 |
NM_001110219.3(GJB6):c.-33G>A |
SNV |
Uncertain Significance
|
882817 |
rs533982140 |
GRCh37: 13:20803736-20803736 GRCh38: 13:20229597-20229597 |
14 |
GJB6 |
NM_001110219.3(GJB6):c.-106G>T |
SNV |
Uncertain Significance
|
882819 |
rs555718664 |
GRCh37: 13:20803809-20803809 GRCh38: 13:20229670-20229670 |
15 |
GJB6 |
NM_001110219.3(GJB6):c.*192C>T |
SNV |
Uncertain Significance
|
883561 |
rs761029974 |
GRCh37: 13:20796642-20796642 GRCh38: 13:20222503-20222503 |
16 |
GJB6 |
NM_001110219.3(GJB6):c.742A>G (p.Ile248Val) |
SNV |
Uncertain Significance
|
883562 |
rs747371119 |
GRCh37: 13:20796878-20796878 GRCh38: 13:20222739-20222739 |
17 |
GJB6 |
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) |
SNV |
Uncertain Significance
Uncertain Significance
|
881662 |
rs200172266 |
GRCh37: 13:20797408-20797408 GRCh38: 13:20223269-20223269 |
18 |
GJB6 |
NM_001110219.3(GJB6):c.30C>T (p.Ile10=) |
SNV |
Uncertain Significance
Likely Benign
|
724026 |
rs377181573 |
GRCh37: 13:20797590-20797590 GRCh38: 13:20223451-20223451 |
19 |
GJB6 |
NM_001110219.3(GJB6):c.672A>G (p.Arg224=) |
SNV |
Uncertain Significance
Likely Benign
|
285401 |
rs756597598 |
GRCh37: 13:20796948-20796948 GRCh38: 13:20222809-20222809 |
20 |
GJB6 |
NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) |
SNV |
Uncertain Significance
|
969013 |
rs200480676 |
GRCh37: 13:20797102-20797102 GRCh38: 13:20222963-20222963 |
21 |
GJB6 |
NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) |
SNV |
Uncertain Significance
|
1043052 |
rs1869317427 |
GRCh37: 13:20797268-20797268 GRCh38: 13:20223129-20223129 |
22 |
GJB6 |
NM_001110219.3(GJB6):c.458T>G (p.Val153Gly) |
SNV |
Uncertain Significance
|
1482975 |
|
GRCh37: 13:20797162-20797162 GRCh38: 13:20223023-20223023 |
23 |
GJB6 |
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp) |
SNV |
Uncertain Significance
|
1474469 |
|
GRCh37: 13:20797397-20797397 GRCh38: 13:20223258-20223258 |
24 |
GJB6 |
NM_001110219.3(GJB6):c.619G>A (p.Val207Met) |
SNV |
Uncertain Significance
Uncertain Significance
|
45507 |
rs146231737 |
GRCh37: 13:20797001-20797001 GRCh38: 13:20222862-20222862 |
25 |
GJB6 |
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) |
DUP |
Uncertain Significance
|
95435 |
rs398124237 |
GRCh37: 13:20796930-20796931 GRCh38: 13:20222791-20222792 |
26 |
GJB6 |
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) |
SNV |
Uncertain Significance
|
1408221 |
|
GRCh37: 13:20797192-20797192 GRCh38: 13:20223053-20223053 |
27 |
GJB6 |
NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg) |
SNV |
Uncertain Significance
|
1391604 |
|
GRCh37: 13:20797249-20797249 GRCh38: 13:20223110-20223110 |
28 |
GJB6 |
NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln) |
SNV |
Uncertain Significance
|
1447347 |
|
GRCh37: 13:20797525-20797525 GRCh38: 13:20223386-20223386 |
29 |
GJB6 |
NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg) |
SNV |
Uncertain Significance
|
1496632 |
|
GRCh37: 13:20796867-20796867 GRCh38: 13:20222728-20222728 |
30 |
GJB6 |
NM_001110219.3(GJB6):c.458T>C (p.Val153Ala) |
SNV |
Uncertain Significance
|
1447794 |
|
GRCh37: 13:20797162-20797162 GRCh38: 13:20223023-20223023 |
31 |
GJB6 |
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) |
SNV |
Uncertain Significance
|
426683 |
rs750540794 |
GRCh37: 13:20797441-20797441 GRCh38: 13:20223302-20223302 |
32 |
overlap with 11 genes |
NC_000013.10:g.(?_20716100)_(21398980_?)dup |
DUP |
Uncertain Significance
|
656832 |
|
GRCh37: 13:20716100-21398980 GRCh38: 13:20141961-20824841 |
33 |
GJB6 |
NM_001110219.3(GJB6):c.393G>A (p.Ser131=) |
SNV |
Uncertain Significance
|
881196 |
rs200353369 |
GRCh37: 13:20797227-20797227 GRCh38: 13:20223088-20223088 |
34 |
GJB6 |
NM_001110219.3(GJB6):c.311G>A (p.Arg104His) |
SNV |
Uncertain Significance
|
881661 |
rs549918398 |
GRCh37: 13:20797309-20797309 GRCh38: 13:20223170-20223170 |
35 |
GJB6 |
NM_001110219.3(GJB6):c.109G>A (p.Val37Met) |
SNV |
Uncertain Significance
|
881663 |
rs761985641 |
GRCh37: 13:20797511-20797511 GRCh38: 13:20223372-20223372 |
36 |
GJB6 |
NM_001110219.3(GJB6):c.-295-99A>C |
SNV |
Uncertain Significance
|
311391 |
rs886050035 |
GRCh37: 13:20805045-20805045 GRCh38: 13:20230906-20230906 |
37 |
GJB6 |
NM_001110219.3(GJB6):c.-122T>C |
SNV |
Uncertain Significance
|
311387 |
rs886050031 |
GRCh37: 13:20803825-20803825 GRCh38: 13:20229686-20229686 |
38 |
GJB6 |
NM_001110219.3(GJB6):c.*628G>T |
SNV |
Uncertain Significance
|
311374 |
rs577545882 |
GRCh37: 13:20796206-20796206 GRCh38: 13:20222067-20222067 |
39 |
GJB6 |
NM_001110219.3(GJB6):c.-26A>G |
SNV |
Uncertain Significance
|
311385 |
rs886050030 |
GRCh37: 13:20803729-20803729 GRCh38: 13:20229590-20229590 |
40 |
GJB6 |
NM_001110219.3(GJB6):c.666A>G (p.Ser222=) |
SNV |
Uncertain Significance
|
311380 |
rs138571061 |
GRCh37: 13:20796954-20796954 GRCh38: 13:20222815-20222815 |
41 |
GJB6 |
NM_001110219.3(GJB6):c.*559C>T |
SNV |
Uncertain Significance
|
311375 |
rs886050029 |
GRCh37: 13:20796275-20796275 GRCh38: 13:20222136-20222136 |
42 |
GJB6 |
NM_001110219.3(GJB6):c.-149G>A |
SNV |
Uncertain Significance
|
311388 |
rs886050032 |
GRCh37: 13:20803852-20803852 GRCh38: 13:20229713-20229713 |
43 |
GJB6 |
NM_001110219.3(GJB6):c.-166A>C |
SNV |
Uncertain Significance
|
311389 |
rs886050033 |
GRCh37: 13:20803869-20803869 GRCh38: 13:20229730-20229730 |
44 |
GJB6 |
NM_001110219.3(GJB6):c.*25C>T |
SNV |
Uncertain Significance
|
311378 |
rs112845420 |
GRCh37: 13:20796809-20796809 GRCh38: 13:20222670-20222670 |
45 |
GJB6 |
NM_001110219.3(GJB6):c.-178C>T |
SNV |
Uncertain Significance
|
311390 |
rs886050034 |
GRCh37: 13:20803881-20803881 GRCh38: 13:20229742-20229742 |
46 |
GJB6 |
NM_001110219.3(GJB6):c.-3G>A |
SNV |
Uncertain Significance
|
311384 |
rs372835743 |
GRCh37: 13:20797622-20797622 GRCh38: 13:20223483-20223483 |
47 |
GJB6 |
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) |
SNV |
Uncertain Significance
|
179782 |
rs727505123 |
GRCh37: 13:20797411-20797411 GRCh38: 13:20223272-20223272 |
48 |
GJB6 |
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) |
SNV |
Uncertain Significance
|
1699284 |
|
GRCh37: 13:20797027-20797027 GRCh38: 13:20222888-20222888 |
49 |
GJB6 |
NM_001110219.3(GJB6):c.176G>T (p.Gly59Val) |
SNV |
Uncertain Significance
|
1721249 |
|
GRCh37: 13:20797444-20797444 GRCh38: 13:20223305-20223305 |
50 |
GJB6 |
NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly) |
SNV |
Uncertain Significance
|
450929 |
rs143962007 |
GRCh37: 13:20796839-20796839 GRCh38: 13:20222700-20222700 |