1 |
GJB6 |
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) |
SNV |
Pathogenic |
5544 |
rs104894415 |
13:20797589-20797589 |
13:20223450-20223450 |
2 |
GJB6 |
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) |
SNV |
Pathogenic |
5545 |
rs28937872 |
13:20797357-20797357 |
13:20223218-20223218 |
3 |
GJB2 , GJB6 |
del(GJB6-D13S1830) |
deletion |
Pathogenic |
5546 |
|
|
|
4 |
GJB2 |
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) |
SNV |
Pathogenic |
17000 |
rs35887622 |
13:20763620-20763620 |
13:20189481-20189481 |
5 |
GJB2 |
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) |
SNV |
Pathogenic |
17001 |
rs80338944 |
13:20763490-20763490 |
13:20189351-20189351 |
6 |
GJB2 |
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) |
SNV |
Pathogenic |
17002 |
rs104894396 |
13:20763650-20763650 |
13:20189511-20189511 |
7 |
GJB2 |
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) |
SNV |
Pathogenic |
17003 |
rs104894397 |
13:20763492-20763492 |
13:20189353-20189353 |
8 |
GJB2 |
NM_004004.6(GJB2):c.35del (p.Gly12fs) |
deletion |
Pathogenic |
17004 |
rs80338939 |
13:20763686-20763686 |
13:20189547-20189547 |
9 |
GJB2 |
NM_004004.6(GJB2):c.167del (p.Leu56fs) |
deletion |
Pathogenic |
17010 |
rs80338942 |
13:20763554-20763554 |
13:20189415-20189415 |
10 |
GJB2 |
NM_004004.6(GJB2):c.235del (p.Leu79fs) |
deletion |
Pathogenic |
17014 |
rs80338943 |
13:20763486-20763486 |
13:20189347-20189347 |
11 |
GJB2 |
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) |
SNV |
Pathogenic |
17023 |
rs72474224 |
13:20763612-20763612 |
13:20189473-20189473 |
12 |
GJB2 |
NM_004004.6(GJB2):c.-23+1G>A |
SNV |
Pathogenic |
17029 |
rs80338940 |
13:20766921-20766921 |
13:20192782-20192782 |
13 |
GJB2 |
NM_004004.6(GJB2):c.299_300del (p.His100fs) |
deletion |
Pathogenic |
44736 |
rs111033204 |
13:20763421-20763422 |
13:20189282-20189283 |
14 |
GJB2 |
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) |
deletion |
Pathogenic |
44737 |
rs111033253 |
13:20763395-20763408 |
13:20189256-20189269 |
15 |
GJB2 |
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) |
SNV |
Pathogenic |
44763 |
rs111033294 |
13:20763104-20763104 |
13:20188965-20188965 |
16 |
GJB2 |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) |
SNV |
Likely pathogenic |
44740 |
rs104894408 |
13:20763687-20763687 |
13:20189548-20189548 |
17 |
GJB2 |
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) |
SNV |
Conflicting interpretations of pathogenicity |
44749 |
rs76434661 |
13:20763305-20763305 |
13:20189166-20189166 |
18 |
GJB2 |
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) |
SNV |
Conflicting interpretations of pathogenicity |
44751 |
rs111033225 |
13:20763276-20763276 |
13:20189137-20189137 |
19 |
GJB2 |
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) |
SNV |
Conflicting interpretations of pathogenicity |
17016 |
rs80338945 |
13:20763452-20763452 |
13:20189313-20189313 |
20 |
GJB6 |
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) |
SNV |
Conflicting interpretations of pathogenicity |
45503 |
rs35002004 |
13:20797131-20797131 |
13:20222992-20222992 |
21 |
GJB6 |
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) |
SNV |
Conflicting interpretations of pathogenicity |
196442 |
rs371123633 |
13:20797443-20797443 |
13:20223304-20223304 |
22 |
GJB6 |
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) |
SNV |
Conflicting interpretations of pathogenicity |
311383 |
rs778513540 |
13:20797560-20797560 |
13:20223421-20223421 |
23 |
GJB6 |
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) |
SNV |
Uncertain significance |
225377 |
rs571454176 |
13:20797319-20797319 |
13:20223180-20223180 |
24 |
GJB6 |
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) |
SNV |
Uncertain significance |
426683 |
rs750540794 |
13:20797441-20797441 |
13:20223302-20223302 |
25 |
GJB6 |
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) |
SNV |
Uncertain significance |
536989 |
rs141752846 |
13:20796989-20796989 |
13:20222850-20222850 |
26 |
GJB6 |
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) |
SNV |
Uncertain significance |
663718 |
|
13:20797319-20797319 |
13:20223180-20223180 |
27 |
GJB6 |
NC_000013.10:g.(?_20716100)_(21398980_?)dup |
duplication |
Uncertain significance |
656832 |
|
13:20716100-21398980 |
13:20141961-20824841 |
28 |
GJB6 |
NM_001110219.3(GJB6):c.228del (p.Trp77fs) |
deletion |
Uncertain significance |
837505 |
|
13:20797392-20797392 |
13:20223253-20223253 |
29 |
GJB6 |
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) |
SNV |
Benign/Likely benign |
45504 |
rs111033338 |
13:20797025-20797025 |
13:20222886-20222886 |
30 |
GJB6 |
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) |
SNV |
Benign/Likely benign |
188490 |
rs143766955 |
13:20797281-20797281 |
13:20223142-20223142 |
31 |
GJB6 |
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) |
SNV |
Benign/Likely benign |
45502 |
rs35277762 |
13:20797144-20797144 |
13:20223005-20223005 |