1 |
MYO15A |
NM_016239.4(MYO15A):c.5851del (p.Ser1951fs) |
Deletion |
Pathogenic |
179619 |
rs727504995 |
17:18046095-18046095 |
17:18142781-18142781 |
2 |
COCH |
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) |
SNV |
Pathogenic |
6611 |
rs28938175 |
14:31346846-31346846 |
14:30877640-30877640 |
3 |
USH2A |
NM_206933.3(USH2A):c.240_241insGTAC (p.Gln81fs) |
Insertion |
Pathogenic |
242396 |
rs587776538 |
1:216595438-216595439 |
1:216422096-216422097 |
4 |
USH2A |
NM_206933.3(USH2A):c.9685del (p.Glu3229fs) |
Deletion |
Pathogenic |
236049 |
rs878853233 |
1:215987132-215987132 |
1:215813790-215813790 |
5 |
KARS1 |
NM_001130089.1(KARS1):c.517T>C (p.Tyr173His) |
SNV |
Pathogenic |
60752 |
rs397514745 |
16:75670401-75670401 |
16:75636503-75636503 |
6 |
TRIOBP |
NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter) |
SNV |
Pathogenic |
165613 |
rs727503528 |
22:38165057-38165057 |
22:37769050-37769050 |
7 |
MYO3A |
NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp) |
SNV |
Pathogenic |
617675 |
rs1564573788 |
10:26414513-26414513 |
10:26125584-26125584 |
8 |
GJB2 |
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) |
SNV |
Pathogenic |
590799 |
rs1302739538 |
13:20763205-20763205 |
13:20189066-20189066 |
9 |
TBCEL-TECTA |
NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter) |
SNV |
Pathogenic |
498538 |
rs199638531 |
11:121016805-121016805 |
11:121146096-121146096 |
10 |
GJB2 |
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) |
SNV |
Pathogenic |
21389 |
rs80338941 |
13:20763665-20763665 |
13:20189526-20189526 |
11 |
GJB2 |
NM_004004.6(GJB2):c.232dup (p.Ala78fs) |
Duplication |
Pathogenic |
553568 |
rs1555341960 |
13:20763488-20763489 |
13:20189349-20189350 |
12 |
GJB2 |
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) |
SNV |
Pathogenic |
188756 |
rs781534323 |
13:20763475-20763475 |
13:20189336-20189336 |
13 |
GJB2 |
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) |
SNV |
Pathogenic |
371766 |
rs1057517519 |
13:20763662-20763662 |
13:20189523-20189523 |
14 |
CRYL1 |
|
Deletion |
Pathogenic |
978789 |
|
13:20797127-21105945 |
|
15 |
CRYL1 |
|
Deletion |
Pathogenic |
978790 |
|
13:20802727-21034768 |
|
16 |
CDH23 |
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) |
SNV |
Pathogenic |
4928 |
rs121908354 |
10:73330641-73330641 |
10:71570884-71570884 |
17 |
KCNQ4 |
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) |
SNV |
Pathogenic |
6241 |
rs28937588 |
1:41285565-41285565 |
1:40819893-40819893 |
18 |
GJB2 |
NM_004004.6(GJB2):c.167del (p.Leu56fs) |
Deletion |
Pathogenic |
17010 |
rs80338942 |
13:20763554-20763554 |
13:20189415-20189415 |
19 |
GJB2 |
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) |
SNV |
Pathogenic |
17000 |
rs35887622 |
13:20763620-20763620 |
13:20189481-20189481 |
20 |
GJB2 |
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) |
SNV |
Pathogenic |
17023 |
rs72474224 |
13:20763612-20763612 |
13:20189473-20189473 |
21 |
GJB2 |
NM_004004.6(GJB2):c.235del (p.Leu79fs) |
Deletion |
Pathogenic |
17014 |
rs80338943 |
13:20763486-20763486 |
13:20189347-20189347 |
22 |
GJB2 |
NM_004004.6(GJB2):c.35del (p.Gly12fs) |
Deletion |
Pathogenic |
17004 |
rs80338939 |
13:20763686-20763686 |
13:20189547-20189547 |
23 |
GJB2 |
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) |
SNV |
Pathogenic |
17002 |
rs104894396 |
13:20763650-20763650 |
13:20189511-20189511 |
24 |
CEACAM16 |
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) |
SNV |
Pathogenic |
236048 |
rs746164064 |
19:45208901-45208901 |
19:44705631-44705631 |
25 |
GJB2 |
NM_004004.6(GJB2):c.-23+1G>A |
SNV |
Pathogenic |
17029 |
rs80338940 |
13:20766921-20766921 |
13:20192782-20192782 |
26 |
GJB2 |
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) |
SNV |
Pathogenic |
21387 |
rs1801002 |
13:20763686-20763686 |
13:20189547-20189547 |
27 |
GJB2 |
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) |
SNV |
Pathogenic |
17005 |
rs104894398 |
13:20763582-20763582 |
13:20189443-20189443 |
28 |
GJB2 |
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) |
SNV |
Pathogenic |
17011 |
rs104894402 |
13:20763498-20763498 |
13:20189359-20189359 |
29 |
GJB2 |
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) |
SNV |
Pathogenic |
17027 |
rs28931593 |
13:20763497-20763497 |
13:20189358-20189358 |
30 |
GJB2 |
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) |
SNV |
Pathogenic |
17003 |
rs104894397 |
13:20763492-20763492 |
13:20189353-20189353 |
31 |
GJB2 |
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) |
SNV |
Pathogenic |
17032 |
rs104894409 |
13:20763471-20763471 |
13:20189332-20189332 |
32 |
GJB2 |
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) |
SNV |
Pathogenic |
17016 |
rs80338945 |
13:20763452-20763452 |
13:20189313-20189313 |
33 |
GJB2 |
NM_004004.6(GJB2):c.269dup (p.Val91fs) |
Duplication |
Pathogenic |
177737 |
rs730880338 |
13:20763451-20763452 |
13:20189312-20189313 |
34 |
GJB2 |
NM_004004.6(GJB2):c.283G>A (p.Val95Met) |
SNV |
Pathogenic |
44735 |
rs111033299 |
13:20763438-20763438 |
13:20189299-20189299 |
35 |
GJB2 |
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) |
Deletion |
Pathogenic |
44737 |
rs111033253 |
13:20763395-20763408 |
13:20189256-20189269 |
36 |
GJB2 |
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) |
Deletion |
Pathogenic |
189051 |
rs756484720 |
13:20763386-20763387 |
13:20189247-20189248 |
37 |
GJB2 |
NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) |
Microsatellite |
Pathogenic |
17006 |
rs80338947 |
13:20763361-20763363 |
13:20189222-20189224 |
38 |
GJB2 |
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) |
SNV |
Pathogenic |
17009 |
rs80338948 |
13:20763294-20763294 |
13:20189155-20189155 |
39 |
GJB2 |
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) |
SNV |
Pathogenic |
371709 |
rs767178508 |
13:20763282-20763282 |
13:20189143-20189143 |
40 |
GJB2 |
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) |
SNV |
Pathogenic |
44763 |
rs111033294 |
13:20763104-20763104 |
13:20188965-20188965 |
41 |
GJB2 |
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) |
SNV |
Pathogenic |
17007 |
rs80338950 |
13:20763170-20763170 |
13:20189031-20189031 |
42 |
KCNQ4 |
NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del) |
Microsatellite |
Likely pathogenic |
208366 |
rs797044966 |
1:41285111-41285113 |
1:40819439-40819441 |
43 |
GJB2 |
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) |
SNV |
Likely pathogenic |
429984 |
rs1131691709 |
13:20763158-20763158 |
13:20189019-20189019 |
44 |
GJB2 |
NM_004004.6(GJB2):c.583A>G (p.Met195Val) |
SNV |
Likely pathogenic |
225375 |
rs532203068 |
13:20763138-20763138 |
13:20188999-20188999 |
45 |
MYO7A |
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) |
SNV |
Likely pathogenic |
555138 |
rs782279338 |
11:76871311-76871311 |
11:77160265-77160265 |
46 |
GJB2 |
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) |
SNV |
Likely pathogenic |
44731 |
rs111033361 |
13:20763494-20763494 |
13:20189355-20189355 |
47 |
GJB2 |
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) |
SNV |
Likely pathogenic |
449490 |
rs141774369 |
13:20763611-20763611 |
13:20189472-20189472 |
48 |
GJB2 |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) |
SNV |
Likely pathogenic |
44740 |
rs104894408 |
13:20763687-20763687 |
13:20189548-20189548 |
49 |
OTOF |
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) |
SNV |
Likely pathogenic |
48258 |
rs111033330 |
2:26684765-26684765 |
2:26461897-26461897 |
50 |
MYO7A |
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) |
SNV |
Likely pathogenic |
43186 |
rs111033437 |
11:76890971-76890971 |
11:77179925-77179925 |