ClinVar Miner

Variants with conflicting interpretations studied for Nonsyndromic Hearing Loss, Recessive

Coded as:
Minimum review status of the submission for Nonsyndromic Hearing Loss, Recessive: Y axis collection method of the submission for Nonsyndromic Hearing Loss, Recessive:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
629 643 0 258 309 0 7 566

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Nonsyndromic Hearing Loss, Recessive pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 1 5 0 198 156
likely benign 2 0 13 0 257
benign 0 0 0 1 0

Condition to condition summary #

Total conditions: 23
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 115 0 248 286 0 0 532
not provided 0 95 0 28 23 0 3 53
Atypical Gaucher Disease 0 0 0 8 15 0 0 23
Combined saposin deficiency 0 0 0 8 15 0 0 23
Galactosylceramide beta-galactosidase deficiency 0 0 0 8 15 0 0 23
Metachromatic leukodystrophy 0 0 0 8 15 0 0 23
Deafness, autosomal recessive 9 0 3 0 9 1 0 0 10
Deafness, autosomal recessive 3 0 1 0 5 0 0 0 5
Nonsyndromic hearing loss and deafness 0 2 0 2 2 0 1 5
Deafness, autosomal recessive 1A 0 8 0 0 4 0 0 4
Deafness, autosomal recessive 77 0 3 0 0 4 0 0 4
Dystonia 0 0 0 4 0 0 0 4
Usher syndrome, type 1 0 1 0 2 0 0 2 4
CDH23-Related Disorders 0 94 0 0 1 0 0 1
Deafness, autosomal dominant 12 0 0 0 0 0 0 1 1
Hearing loss 0 1 0 0 1 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1 1
Nonsyndromic Deafness 0 0 0 0 1 0 0 1
Nonsyndromic Hearing Loss, Recessive 1832 5 0 0 1 0 0 1
Retinitis pigmentosa-deafness syndrome 0 553 0 0 1 0 0 1
Usher syndrome, type 1B 0 0 0 0 0 0 1 1
Usher syndrome, type 1D 0 0 0 0 1 0 0 1
Usher syndrome, type 1F 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 566
Download table as spreadsheet
HGVS dbSNP
NM_000260.3(MYO7A):c.133-14C>T rs116228809
NM_000260.3(MYO7A):c.133-7C>T rs111033221
NM_000260.3(MYO7A):c.1343+8G>A rs2276278
NM_000260.3(MYO7A):c.1554+7C>T rs150114658
NM_000260.3(MYO7A):c.1605C>T (p.Asn535=) rs111033228
NM_000260.3(MYO7A):c.1619C>A (p.Pro540His) rs782607566
NM_000260.3(MYO7A):c.1854G>A (p.Leu618=) rs35429535
NM_000260.3(MYO7A):c.2035G>A (p.Val679Ile) rs35641839
NM_000260.3(MYO7A):c.2282+5G>A rs540145750
NM_000260.3(MYO7A):c.2283G>A (p.Arg761=) rs111033229
NM_000260.3(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.3(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.3(MYO7A):c.2754C>T (p.Ala918=) rs78072361
NM_000260.3(MYO7A):c.286-5C>T rs111033471
NM_000260.3(MYO7A):c.288G>A (p.Thr96=) rs56023295
NM_000260.3(MYO7A):c.3042G>T (p.Thr1014=) rs111033507
NM_000260.3(MYO7A):c.3086A>G (p.His1029Arg) rs60103800
NM_000260.3(MYO7A):c.3246G>A (p.Thr1082=) rs35963362
NM_000260.3(MYO7A):c.3750+9G>A rs111033252
NM_000260.3(MYO7A):c.3828G>A (p.Ser1276=) rs78871677
NM_000260.3(MYO7A):c.3858G>A (p.Ala1286=) rs372623270
NM_000260.3(MYO7A):c.4023C>T (p.Pro1341=) rs73495790
NM_000260.3(MYO7A):c.4074C>T (p.Ser1358=) rs78996818
NM_000260.3(MYO7A):c.4461C>T (p.Asn1487=) rs56174006
NM_000260.3(MYO7A):c.4568+12C>G rs72933642
NM_000260.3(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183
NM_000260.3(MYO7A):c.4620G>A (p.Ala1540=) rs41298745
NM_000260.3(MYO7A):c.468C>T (p.Ile156=) rs12420129
NM_000260.3(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.3(MYO7A):c.4698G>A (p.Thr1566=) rs200207753
NM_000260.3(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.3(MYO7A):c.4851C>T (p.Pro1617=) rs372535399
NM_000260.3(MYO7A):c.4950C>T (p.Asn1650=) rs80033599
NM_000260.3(MYO7A):c.4992C>T (p.Thr1664=) rs181573957
NM_000260.3(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.3(MYO7A):c.5172C>G (p.Pro1724=) rs727505004
NM_000260.3(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000260.3(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.3(MYO7A):c.5326+13C>T rs114157944
NM_000260.3(MYO7A):c.5481-14G>A rs113075052
NM_000260.3(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.3(MYO7A):c.5619G>A (p.Arg1873=) rs45450893
NM_000260.3(MYO7A):c.5835C>T (p.Leu1945=) rs111033476
NM_000260.3(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000260.3(MYO7A):c.5904C>T (p.His1968=) rs41298753
NM_000260.3(MYO7A):c.593-5C>T rs762666
NM_000260.3(MYO7A):c.6052-11G>C rs112564978
NM_000260.3(MYO7A):c.6063G>A (p.Lys2021=) rs111033209
NM_000260.3(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391
NM_000260.3(MYO7A):c.6240C>T (p.Ser2080=) rs41298757
NM_000260.3(MYO7A):c.6318G>A (p.Lys2106=) rs11237123
NM_000260.3(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036
NM_000260.3(MYO7A):c.6519C>T (p.Asn2173=) rs111033230
NM_000260.3(MYO7A):c.6559-11C>T rs34517202
NM_000260.3(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231
NM_000260.3(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000441.1(SLC26A4):c.-66C>G rs17154282
NM_000441.1(SLC26A4):c.1050G>A (p.Leu350=) rs727504993
NM_000441.1(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740
NM_000441.1(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.1(SLC26A4):c.841G>A (p.Val281Ile) rs727505080
NM_001038603.2(MARVELD2):c.1059A>G (p.Ile353Met) rs727503158
NM_001038603.2(MARVELD2):c.1147-9T>G rs299099
NM_001038603.2(MARVELD2):c.1248A>C (p.Thr416=) rs146746360
NM_001038603.2(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168
NM_001038603.2(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607
NM_001038603.2(MARVELD2):c.98C>T (p.Thr33Ile) rs1185246
NM_001042702.3(PJVK):c.*2A>C rs200811582
NM_001042702.3(PJVK):c.766+8T>C rs185220846
NM_001042702.3(PJVK):c.86A>G (p.Asp29Gly) rs200502817
NM_001042702.3(PJVK):c.874G>A (p.Gly292Arg) rs79399438
NM_001080476.2(GRXCR1):c.140C>T (p.Ala47Val) rs57655409
NM_001080476.2(GRXCR1):c.25G>A (p.Glu9Lys) rs78136490
NM_001142763.1(PCDH15):c.1153G>A (p.Gly385Ser) rs10825269
NM_001142763.1(PCDH15):c.1278T>C (p.Thr426=) rs7921598
NM_001142763.1(PCDH15):c.4871A>G (p.Asn1624Ser) rs111033362
NM_001145308.4(LRTOMT):c.-149C>T rs145851613
NM_001145308.4(LRTOMT):c.-52G>C rs149637884
NM_001145308.4(LRTOMT):c.222A>G (p.Ser74=) rs397516626
NM_001145308.4(LRTOMT):c.352G>A (p.Val118Ile) rs181092713
NM_001145308.4(LRTOMT):c.397G>C (p.Ala133Pro) rs76657474
NM_001145309.3(LRTOMT):c.69G>C (p.Leu23=) rs12272086
NM_001146077.1(CLDN14):c.*10G>C rs139628442
NM_001146077.1(CLDN14):c.11C>T (p.Thr4Met) rs113831133
NM_001146077.1(CLDN14):c.243C>T (p.Arg81=) rs219779
NM_001146077.1(CLDN14):c.63G>A (p.Thr21=) rs117560775
NM_001146077.1(CLDN14):c.687G>A (p.Thr229=) rs219780
NM_001167962.1(SLC26A5):c.403+14T>C rs7779997
NM_002778.3(PSAP):c.*891G>A rs7869
NM_002778.3(PSAP):c.1350+5G>A rs11000016
NM_002906.3(RDX):c.-64-6delT rs61003001
NM_002906.3(RDX):c.1487C>T (p.Ala496Val) rs74983220
NM_002906.3(RDX):c.354G>T (p.Pro118=) rs144543614
NM_003690.4(PRKRA):c.-24G>A rs62176113
NM_003690.4(PRKRA):c.1A>C (p.Met1Leu) rs9406386
NM_003690.4(PRKRA):c.22_23delGC (p.Ala8Argfs) rs141354030
NM_003690.4(PRKRA):c.32C>T (p.Pro11Leu) rs62176112
NM_004004.5(GJB2):c.*1C>T rs111033327
NM_004004.5(GJB2):c.-15C>T rs72561725
NM_004004.5(GJB2):c.-45C>A rs397516868
NM_004004.5(GJB2):c.-6T>A rs148136545
NM_004004.5(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.5(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.5(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.5(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.5(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.5(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.5(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004452.3(ESRRB):c.1113C>T (p.His371=) rs370193367
NM_004452.3(ESRRB):c.114G>A (p.Ser38=) rs781612689
NM_004452.3(ESRRB):c.1156C>T (p.Pro386Ser) rs61742642
NM_004452.3(ESRRB):c.1366T>C (p.Phe456Leu) rs188462546
NM_004452.3(ESRRB):c.1409C>T (p.Pro470Leu) rs201726554
NM_004452.3(ESRRB):c.141G>C (p.Leu47=) rs61744548
NM_004452.3(ESRRB):c.1427G>A (p.Arg476His) rs200237229
NM_004452.3(ESRRB):c.702G>A (p.Glu234=) rs79273904
NM_004452.3(ESRRB):c.81C>A (p.Ile27=) rs35544003
NM_004999.3(MYO6):c.*12C>T rs12606
NM_004999.3(MYO6):c.1025C>T (p.Ala342Val) rs145564837
NM_004999.3(MYO6):c.1030G>A (p.Val344Ile) rs199798449
NM_004999.3(MYO6):c.1078+19dupT rs144408691
NM_004999.3(MYO6):c.1120T>C (p.Tyr374His) rs61732664
NM_004999.3(MYO6):c.1144G>A (p.Asp382Asn) rs111530469
NM_004999.3(MYO6):c.1176A>G (p.Thr392=) rs2273857
NM_004999.3(MYO6):c.1546+7_1546+8delGT rs3831003
NM_004999.3(MYO6):c.1656G>A (p.Lys552=) rs111033431
NM_004999.3(MYO6):c.1674+13A>G rs6925845
NM_004999.3(MYO6):c.1722C>T (p.Asp574=) rs11756446
NM_004999.3(MYO6):c.188-3T>C rs373199401
NM_004999.3(MYO6):c.2517T>C (p.Gly839=) rs112597191
NM_004999.3(MYO6):c.3246T>C (p.Tyr1082=) rs138437852
NM_004999.3(MYO6):c.3303C>T (p.Cys1101=) rs9443199
NM_004999.3(MYO6):c.3333G>A (p.Val1111=) rs114970874
NM_004999.3(MYO6):c.3667G>A (p.Asp1223Asn) rs41269323
NM_004999.3(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956
NM_004999.3(MYO6):c.441C>T (p.Ile147=) rs565770950
NM_004999.3(MYO6):c.553+11T>C rs12210963
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590
NM_005422.2(TECTA):c.-13T>C rs145916279
NM_005422.2(TECTA):c.1436C>T (p.Pro479Leu) rs35107075
NM_005422.2(TECTA):c.1461A>G (p.Gly487=) rs202127508
NM_005422.2(TECTA):c.1509C>T (p.Cys503=) rs61733565
NM_005422.2(TECTA):c.2061C>G (p.Asn687Lys) rs139165033
NM_005422.2(TECTA):c.2256C>T (p.Ile752=) rs10502247
NM_005422.2(TECTA):c.2781T>C (p.His927=) rs142903119
NM_005422.2(TECTA):c.2795T>C (p.Val932Ala) rs520805
NM_005422.2(TECTA):c.3012C>G (p.Thr1004=) rs61291716
NM_005422.2(TECTA):c.3492C>T (p.Thr1164=) rs144012985
NM_005422.2(TECTA):c.3511G>A (p.Val1171Met) rs186780639
NM_005422.2(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950
NM_005422.2(TECTA):c.4098G>A (p.Thr1366=) rs12275038
NM_005422.2(TECTA):c.4105+13C>T rs7130952
NM_005422.2(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158
NM_005422.2(TECTA):c.4422C>T (p.Asn1474=) rs33981325
NM_005422.2(TECTA):c.4533C>T (p.Phe1511=) rs77628498
NM_005422.2(TECTA):c.4611C>T (p.Pro1537=) rs138477419
NM_005422.2(TECTA):c.4720A>G (p.Ile1574Val) rs147354818
NM_005422.2(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131
NM_005422.2(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530
NM_005422.2(TECTA):c.5383+3G>A rs73583199
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_005422.2(TECTA):c.5634C>T (p.Ser1878=) rs2155369
NM_005422.2(TECTA):c.56A>G (p.Gln19Arg) rs35507522
NM_005422.2(TECTA):c.5733T>G (p.Val1911=) rs516678
NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) rs144343770
NM_005422.2(TECTA):c.624+11C>G rs73599492
NM_005422.2(TECTA):c.6250+4T>C rs143302176
NM_005422.2(TECTA):c.6428C>T (p.Ser2143Leu) rs538443920
NM_005422.2(TECTA):c.6458C>T (p.Thr2153Met) rs146965680
NM_005422.2(TECTA):c.701A>G (p.Gln234Arg) rs144682235
NM_005422.2(TECTA):c.790+12C>T rs138644808
NM_005422.2(TECTA):c.915C>T (p.Cys305=) rs367974065
NM_005422.2(TECTA):c.972G>C (p.Val324=) rs147790742
NM_005709.3(USH1C):c.1086-12G>A rs11024318
NM_005709.3(USH1C):c.1086-13G>T rs200490320
NM_005709.3(USH1C):c.114C>T (p.Asp38=) rs137962152
NM_005709.3(USH1C):c.1243G>A (p.Ala415Thr) rs116996553
NM_005709.3(USH1C):c.1261G>A (p.Gly421Ser) rs115931035
NM_005709.3(USH1C):c.1266G>A (p.Thr422=) rs35188020
NM_005709.3(USH1C):c.1326+12C>T rs17703528
NM_005709.3(USH1C):c.1599C>T (p.Ile533=) rs34581703
NM_005709.3(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_005709.3(USH1C):c.403G>A (p.Val135Ile) rs145013633
NM_005709.3(USH1C):c.648G>A (p.Leu216=) rs77137413
NM_005709.3(USH1C):c.651A>G (p.Val217=) rs75977878
NM_005709.3(USH1C):c.819+10G>C rs41282936
NM_005709.3(USH1C):c.921G>A (p.Ala307=) rs778447994
NM_006783.4(GJB6):c.405G>A (p.Thr135=) rs145438428
NM_013296.4(GPSM2):c.-258C>T rs35520362
NM_013296.4(GPSM2):c.1066G>A (p.Gly356Arg) rs61754640
NM_013296.4(GPSM2):c.1263+11G>A rs201878481
NM_013296.4(GPSM2):c.1370C>T (p.Thr457Met) rs35089879
NM_013296.4(GPSM2):c.1572_1574delTTC (p.Ser525del) rs35029887
NM_013296.4(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689
NM_013296.4(GPSM2):c.278+5T>C rs9727773
NM_013296.4(GPSM2):c.380G>A (p.Arg127Gln) rs41279678
NM_013296.4(GPSM2):c.753A>G (p.Ala251=) rs12069435
NM_013296.4(GPSM2):c.828A>G (p.Lys276=) rs338489
NM_015404.3(WHRN):c.1075G>A (p.Val359Ile) rs147500559
NM_015404.3(WHRN):c.117G>A (p.Val39=) rs2297815
NM_015404.3(WHRN):c.1318G>A (p.Ala440Thr) rs4978584
NM_015404.3(WHRN):c.1352G>A (p.Gly451Asp) rs117352600
NM_015404.3(WHRN):c.1353T>C (p.Gly451=) rs4979387
NM_015404.3(WHRN):c.1365T>C (p.Ser455=) rs111033459
NM_015404.3(WHRN):c.1515G>A (p.Ala505=) rs34252199
NM_015404.3(WHRN):c.1608C>G (p.Thr536=) rs139337135
NM_015404.3(WHRN):c.1627-12G>A rs2274160
NM_015404.3(WHRN):c.1684C>G (p.Pro562Ala) rs12339210
NM_015404.3(WHRN):c.1838T>C (p.Met613Thr) rs942519
NM_015404.3(WHRN):c.1887G>A (p.Pro629=) rs143443833
NM_015404.3(WHRN):c.191C>A (p.Ala64Asp) rs146655362
NM_015404.3(WHRN):c.1992G>A (p.Pro664=) rs142568702
NM_015404.3(WHRN):c.2046G>C (p.Arg682=) rs35258467
NM_015404.3(WHRN):c.2283C>T (p.Ser761=) rs34963246
NM_015404.3(WHRN):c.2322C>T (p.Ser774=) rs55966714
NM_015404.3(WHRN):c.2348T>C (p.Val783Ala) rs2274159
NM_015404.3(WHRN):c.2388C>A (p.Asn796Lys) rs2274158
NM_015404.3(WHRN):c.2439G>A (p.Thr813=) rs61743618
NM_015404.3(WHRN):c.2586C>A (p.His862Gln) rs117592152
NM_015404.3(WHRN):c.668G>A (p.Arg223His) rs146273185
NM_016239.3(MYO15A):c.10403G>A (p.Arg3468Gln) rs200456053
NM_016239.3(MYO15A):c.10431T>C (p.Tyr3477=) rs854800
NM_016239.3(MYO15A):c.1783G>A (p.Ala595Thr) rs2955365
NM_016239.3(MYO15A):c.1791G>A (p.Ala597=) rs114552047
NM_016239.3(MYO15A):c.1899A>G (p.Pro633=) rs2955366
NM_016239.3(MYO15A):c.2152T>G (p.Trp718Gly) rs2955367
NM_016239.3(MYO15A):c.2418C>T (p.Phe806=) rs564053026
NM_016239.3(MYO15A):c.2462A>C (p.Gln821Pro) rs372125621
NM_016239.3(MYO15A):c.2562C>T (p.Cys854=) rs182293382
NM_016239.3(MYO15A):c.2790C>T (p.Asp930=) rs185688918
NM_016239.3(MYO15A):c.3012A>G (p.Ser1004=) rs376387472
NM_016239.3(MYO15A):c.3023C>G (p.Thr1008Ser) rs143316414
NM_016239.3(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819
NM_016239.3(MYO15A):c.3756C>T (p.Tyr1252=) rs59933498
NM_016239.3(MYO15A):c.3774C>T (p.Ile1258=) rs148723625
NM_016239.3(MYO15A):c.4033A>T (p.Ile1345Leu) rs201234482
NM_016239.3(MYO15A):c.4206+13C>G rs141183007
NM_016239.3(MYO15A):c.4533C>T (p.Ala1511=) rs114328138
NM_016239.3(MYO15A):c.4719G>A (p.Ala1573=) rs186426892
NM_016239.3(MYO15A):c.4779+9G>A rs183256997
NM_016239.3(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831
NM_016239.3(MYO15A):c.4954C>T (p.Leu1652=) rs2280777
NM_016239.3(MYO15A):c.5212-14C>T rs2072652
NM_016239.3(MYO15A):c.5287C>T (p.Arg1763Trp) rs200146361
NM_016239.3(MYO15A):c.5526C>T (p.Ile1842=) rs370047914
NM_016239.3(MYO15A):c.5649+14G>A rs2072653
NM_016239.3(MYO15A):c.5754T>G (p.Ile1918Met) rs150403702
NM_016239.3(MYO15A):c.5826-12A>C rs854778
NM_016239.3(MYO15A):c.5880C>T (p.His1960=) rs201487604
NM_016239.3(MYO15A):c.5929T>C (p.Cys1977Arg) rs854777
NM_016239.3(MYO15A):c.6052G>A (p.Gly2018Arg) rs2272571
NM_016239.3(MYO15A):c.6186C>A (p.Ala2062=) rs141475629
NM_016239.3(MYO15A):c.6192G>A (p.Gly2064=) rs55688805
NM_016239.3(MYO15A):c.6274-10C>T rs201459354
NM_016239.3(MYO15A):c.6669G>A (p.Ala2223=) rs558947304
NM_016239.3(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676
NM_016239.3(MYO15A):c.7396-8C>G rs370351502
NM_016239.3(MYO15A):c.7468G>A (p.Ala2490Thr) rs16960959
NM_016239.3(MYO15A):c.7473+10G>T rs181355572
NM_016239.3(MYO15A):c.7503G>A (p.Thr2501=) rs16960961
NM_016239.3(MYO15A):c.7857G>A (p.Gly2619=) rs854772
NM_016239.3(MYO15A):c.7961C>G (p.Thr2654Ser) rs200355614
NM_016239.3(MYO15A):c.8045A>T (p.Tyr2682Phe) rs712270
NM_016239.3(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191
NM_016239.3(MYO15A):c.8088+5C>G rs9916193
NM_016239.3(MYO15A):c.8262G>A (p.Thr2754=) rs1006770
NM_016239.3(MYO15A):c.8269G>A (p.Val2757Met) rs140140417
NM_016239.3(MYO15A):c.8322C>T (p.Ser2774=) rs712272
NM_016239.3(MYO15A):c.8460-15C>T rs861278
NM_016239.3(MYO15A):c.876C>T (p.Pro292=) rs368755362
NM_016239.3(MYO15A):c.8811C>T (p.His2937=) rs200583193
NM_016239.3(MYO15A):c.8816G>A (p.Arg2939His) rs377389290
NM_016239.3(MYO15A):c.9486C>T (p.Asp3162=) rs8077577
NM_016239.3(MYO15A):c.9518-10G>A rs570587230
NM_016239.3(MYO15A):c.9518-11T>C rs62073604
NM_016239.3(MYO15A):c.9708G>A (p.Val3236=) rs115393178
NM_016239.3(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358
NM_016239.3(MYO15A):c.9792G>A (p.Gln3264=) rs149189607
NM_017433.4(MYO3A):c.-15T>A rs11014875
NM_017433.4(MYO3A):c.1042A>G (p.Ile348Val) rs3824699
NM_017433.4(MYO3A):c.1053+11C>T rs3824698
NM_017433.4(MYO3A):c.1053+11_1053+12invCA
NM_017433.4(MYO3A):c.1053+12A>G rs3824697
NM_017433.4(MYO3A):c.1104C>T (p.Tyr368=) rs35379457
NM_017433.4(MYO3A):c.1105G>A (p.Val369Ile) rs3817420
NM_017433.4(MYO3A):c.1170+7C>T rs3817419
NM_017433.4(MYO3A):c.1559C>T (p.Ala520Val) rs72787346
NM_017433.4(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.4(MYO3A):c.1662-9T>A rs200678745
NM_017433.4(MYO3A):c.1743G>A (p.Glu581=) rs41279908
NM_017433.4(MYO3A):c.177C>T (p.Asp59=) rs139958275
NM_017433.4(MYO3A):c.1971T>C (p.Thr657=) rs112195128
NM_017433.4(MYO3A):c.2133G>A (p.Leu711=) rs56147819
NM_017433.4(MYO3A):c.2169T>C (p.Asn723=) rs114982270
NM_017433.4(MYO3A):c.2625G>C (p.Leu875=) rs371741845
NM_017433.4(MYO3A):c.2867G>A (p.Ser956Asn) rs3758449
NM_017433.4(MYO3A):c.2973G>T (p.Arg991=) rs146647767
NM_017433.4(MYO3A):c.3000-11T>C rs375346333
NM_017433.4(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833
NM_017433.4(MYO3A):c.3112-4T>C rs16926628
NM_017433.4(MYO3A):c.3255C>T (p.Ser1085=) rs35541310
NM_017433.4(MYO3A):c.3352A>G (p.Thr1118Ala) rs138955440
NM_017433.4(MYO3A):c.3408C>T (p.Phe1136=) rs61731629
NM_017433.4(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065
NM_017433.4(MYO3A):c.3584T>C (p.Val1195Ala) rs35675577
NM_017433.4(MYO3A):c.3597G>A (p.Glu1199=) rs3740232
NM_017433.4(MYO3A):c.3729G>A (p.Arg1243=) rs146832858
NM_017433.4(MYO3A):c.3850A>T (p.Thr1284Ser) rs3740231
NM_017433.4(MYO3A):c.3932C>G (p.Thr1311Ser) rs146693681
NM_017433.4(MYO3A):c.3937C>A (p.Arg1313Ser) rs1999240
NM_017433.4(MYO3A):c.4335A>G (p.Lys1445=) rs34615182
NM_017433.4(MYO3A):c.4462A>G (p.Lys1488Glu) rs34204285
NM_017433.4(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000
NM_017433.4(MYO3A):c.4530C>T (p.Tyr1510=) rs139504940
NM_017433.4(MYO3A):c.4589A>T (p.Gln1530Leu) rs147749053
NM_017433.4(MYO3A):c.4730+11A>C rs375717548
NM_017433.4(MYO3A):c.480G>T (p.Thr160=) rs12257119
NM_017433.4(MYO3A):c.546G>T (p.Arg182=) rs148349532
NM_017433.4(MYO3A):c.624C>T (p.Asp208=) rs35010955
NM_017433.4(MYO3A):c.660C>T (p.Ala220=) rs34067308
NM_017433.4(MYO3A):c.906G>A (p.Thr302=) rs139818474
NM_017433.4(MYO3A):c.956G>A (p.Arg319His) rs3824700
NM_022124.5(CDH23):c.*104G>C rs377312107
NM_022124.5(CDH23):c.*141G>A rs535544696
NM_022124.5(CDH23):c.*204A>G rs2290022
NM_022124.5(CDH23):c.*349A>G rs1867978
NM_022124.5(CDH23):c.*361C>A rs115033851
NM_022124.5(CDH23):c.*430A>T rs562268606
NM_022124.5(CDH23):c.*434G>A rs529522213
NM_022124.5(CDH23):c.*510G>A rs1054635
NM_022124.5(CDH23):c.*515C>A rs16929375
NM_022124.5(CDH23):c.*588delA rs148667421
NM_022124.5(CDH23):c.*68G>C rs527311705
NM_022124.5(CDH23):c.-15C>A rs760922529
NM_022124.5(CDH23):c.-1C>T rs41281302
NM_022124.5(CDH23):c.-35_-31delAGGCG rs71012280
NM_022124.5(CDH23):c.-35_-31dupAGGCG rs71012280
NM_022124.5(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.5(CDH23):c.1053C>T (p.Ser351=) rs7903475
NM_022124.5(CDH23):c.1078C>T (p.Leu360=) rs185917383
NM_022124.5(CDH23):c.1134+13A>G rs7903502
NM_022124.5(CDH23):c.1307G>A (p.Ser436Asn) rs111033369
NM_022124.5(CDH23):c.1469G>C (p.Gly490Ala) rs1227049
NM_022124.5(CDH23):c.1487G>A (p.Ser496Asn) rs10999947
NM_022124.5(CDH23):c.1584C>T (p.Arg528=) rs397517309
NM_022124.5(CDH23):c.1595C>T (p.Thr532Met) rs201297042
NM_022124.5(CDH23):c.1665C>T (p.Asn555=) rs397517310
NM_022124.5(CDH23):c.1803C>G (p.Val601=) rs201024982
NM_022124.5(CDH23):c.1814C>T (p.Ala605Val) rs201475055
NM_022124.5(CDH23):c.198G>A (p.Val66=) rs111033288
NM_022124.5(CDH23):c.204C>T (p.Gly68=) rs116624130
NM_022124.5(CDH23):c.2112C>T (p.Tyr704=) rs565266663
NM_022124.5(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_022124.5(CDH23):c.2290-13delT rs397517316
NM_022124.5(CDH23):c.2316T>C (p.Asn772=) rs3752752
NM_022124.5(CDH23):c.2337G>A (p.Lys779=) rs111033461
NM_022124.5(CDH23):c.2388T>C (p.Asp796=) rs3752751
NM_022124.5(CDH23):c.2424G>A (p.Gly808=) rs76601590
NM_022124.5(CDH23):c.2568C>G (p.Ile856Met) rs188498736
NM_022124.5(CDH23):c.2572G>A (p.Val858Ile) rs181275139
NM_022124.5(CDH23):c.2711C>T (p.Pro904Leu) rs199894395
NM_022124.5(CDH23):c.2954-14G>A rs191534381
NM_022124.5(CDH23):c.2970C>T (p.Asp990=) rs56216952
NM_022124.5(CDH23):c.3009T>C (p.Ser1003=) rs10823829
NM_022124.5(CDH23):c.3186C>A (p.Thr1062=) rs201589645
NM_022124.5(CDH23):c.3249G>A (p.Thr1083=) rs79805606
NM_022124.5(CDH23):c.3331G>A (p.Val1111Ile) rs397517321
NM_022124.5(CDH23):c.3369+12G>A rs187975106
NM_022124.5(CDH23):c.3580-12C>T rs73275848
NM_022124.5(CDH23):c.3580-13C>T rs150894638
NM_022124.5(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022124.5(CDH23):c.366T>C (p.Val122=) rs3802720
NM_022124.5(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065
NM_022124.5(CDH23):c.4068C>G (p.Thr1356=) rs143136329
NM_022124.5(CDH23):c.4210-7C>T rs79271090
NM_022124.5(CDH23):c.429+13G>A rs3802719
NM_022124.5(CDH23):c.4299T>A (p.Pro1433=) rs12218559
NM_022124.5(CDH23):c.4341T>C (p.Asp1447=) rs12218564
NM_022124.5(CDH23):c.4509C>T (p.Gly1503=) rs10999978
NM_022124.5(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323
NM_022124.5(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051
NM_022124.5(CDH23):c.5023G>A (p.Val1675Ile) rs17712523
NM_022124.5(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301
NM_022124.5(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522
NM_022124.5(CDH23):c.5066T>C (p.Met1689Thr) rs397517334
NM_022124.5(CDH23):c.5067+15G>A rs367928867
NM_022124.5(CDH23):c.5100C>T (p.Tyr1700=) rs10762480
NM_022124.5(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089
NM_022124.5(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711
NM_022124.5(CDH23):c.5442C>T (p.Ile1814=) rs373768157
NM_022124.5(CDH23):c.5503-10A>G rs2394839
NM_022124.5(CDH23):c.5544C>T (p.Asp1848=) rs142131750
NM_022124.5(CDH23):c.574G>C (p.Glu192Gln) rs199514829
NM_022124.5(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440
NM_022124.5(CDH23):c.5821-13C>T rs117317626
NM_022124.5(CDH23):c.5931T>C (p.Pro1977=) rs373457993
NM_022124.5(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462
NM_022124.5(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026
NM_022124.5(CDH23):c.6138C>T (p.Ile2046=) rs568741210
NM_022124.5(CDH23):c.6429G>A (p.Thr2143=) rs142788731
NM_022124.5(CDH23):c.67+12C>T rs74144963
NM_022124.5(CDH23):c.6705C>T (p.Ile2235=) rs114827737
NM_022124.5(CDH23):c.6713-8G>A rs369946986
NM_022124.5(CDH23):c.6847G>A (p.Val2283Ile) rs41281334
NM_022124.5(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194
NM_022124.5(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195
NM_022124.5(CDH23):c.7467C>T (p.Arg2489=) rs111033289
NM_022124.5(CDH23):c.7572G>A (p.Ala2524=) rs10823849
NM_022124.5(CDH23):c.7722C>T (p.Tyr2574=) rs111033483
NM_022124.5(CDH23):c.7C>T (p.Arg3Cys) rs7902757
NM_022124.5(CDH23):c.8775C>T (p.Pro2925=) rs766541944
NM_022124.5(CDH23):c.8895C>T (p.Pro2965=) rs11000009
NM_022124.5(CDH23):c.8980-12C>T rs111583276
NM_022124.5(CDH23):c.9015G>A (p.Ala3005=) rs376497158
NM_022124.5(CDH23):c.9077+8G>A rs11818398
NM_022124.5(CDH23):c.9198+13C>T rs375384238
NM_022124.5(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850
NM_022124.5(CDH23):c.9319+11G>A rs11000013
NM_022124.5(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.5(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.5(CDH23):c.9739-12G>A rs200638595
NM_022124.5(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938
NM_022124.5(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210
NM_022124.5(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.5(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_024022.2(TMPRSS3):c.*2G>A rs13047838
NM_024022.2(TMPRSS3):c.-34G>A rs73372256
NM_024022.2(TMPRSS3):c.-51-7G>C rs4920100
NM_024022.2(TMPRSS3):c.1122C>T (p.Asp374=) rs113747896
NM_024022.2(TMPRSS3):c.1309G>A (p.Val437Ile) rs114904237
NM_024022.2(TMPRSS3):c.1335C>T (p.His445=) rs186972955
NM_024022.2(TMPRSS3):c.157G>A (p.Val53Ile) rs928302
NM_024022.2(TMPRSS3):c.239G>A (p.Arg80His) rs146159479
NM_024022.2(TMPRSS3):c.331G>A (p.Gly111Ser) rs35227181
NM_024022.2(TMPRSS3):c.432A>G (p.Gln144=) rs61731564
NM_024022.2(TMPRSS3):c.447-13A>G rs8130564
NM_024022.2(TMPRSS3):c.453G>A (p.Val151=) rs2839501
NM_024022.2(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_024022.2(TMPRSS3):c.617-3_617-2dupTA rs34966432
NM_024022.2(TMPRSS3):c.757A>G (p.Ile253Val) rs2839500
NM_024022.2(TMPRSS3):c.975G>T (p.Leu325=) rs397517379
NM_033056.3(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.3(PCDH15):c.1360G>A (p.Val454Ile) rs61735473
NM_033056.3(PCDH15):c.1362C>T (p.Val454=) rs61735479
NM_033056.3(PCDH15):c.157+3A>G rs41274636
NM_033056.3(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.3(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033056.3(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.3(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.3(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720
NM_033056.3(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.3(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.3(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.3(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.3(PCDH15):c.3195A>G (p.Gln1065=) rs776720353
NM_033056.3(PCDH15):c.3502-8C>T rs184144118
NM_033056.3(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.3(PCDH15):c.3983+12T>C rs149867749
NM_033056.3(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.3(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.3(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.3(PCDH15):c.475-3C>T rs41304641
NM_033056.3(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461
NM_033056.3(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.3(PCDH15):c.5254_5256delCCT (p.Pro1752del) rs397517462
NM_033056.3(PCDH15):c.5283T>A (p.Ala1761=) rs375134176
NM_033056.3(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.3(PCDH15):c.5287_5292delGCTCCT (p.Ala1763_Pro1764del) rs397517465
NM_033056.3(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647
NM_033056.3(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.3(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.3(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.3(PCDH15):c.55T>G (p.Ser19Ala) rs11004439
NM_033056.3(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.3(PCDH15):c.706-8C>T rs10740579
NM_033056.3(PCDH15):c.960A>G (p.Pro320=) rs41274634
NM_138691.2(TMC1):c.1457T>C (p.Met486Thr) rs17058153
NM_138691.2(TMC1):c.1713C>T (p.Phe571=) rs34532421
NM_138691.2(TMC1):c.241G>A (p.Glu81Lys) rs1796993
NM_138691.2(TMC1):c.247_249delGAA (p.Glu83del) rs376040866
NM_138691.2(TMC1):c.421C>T (p.Arg141Trp) rs11143384
NM_138691.2(TMC1):c.795A>C (p.Thr265=) rs140398130
NM_144612.6(LOXHD1):c.1431+10G>T rs57330753
NM_144612.6(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227
NM_144612.6(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386
NM_144612.6(LOXHD1):c.1887C>T (p.Ser629=) rs189550119
NM_144612.6(LOXHD1):c.1944C>T (p.Ser648=) rs369039902
NM_144612.6(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578
NM_144612.6(LOXHD1):c.2100G>A (p.Thr700=) rs367826075
NM_144612.6(LOXHD1):c.2175C>T (p.Asn725=) rs2086005
NM_144612.6(LOXHD1):c.2370C>T (p.Asp790=) rs34723936
NM_144612.6(LOXHD1):c.2473G>A (p.Val825Met) rs36086089
NM_144612.6(LOXHD1):c.274G>A (p.Val92Ile) rs115275492
NM_144612.6(LOXHD1):c.3024C>T (p.Val1008=) rs370616818
NM_144612.6(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614
NM_144612.6(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674
NM_144612.6(LOXHD1):c.3426G>A (p.Val1142=) rs200068167
NM_144612.6(LOXHD1):c.3463A>G (p.Arg1155Gly) rs1893566
NM_144612.6(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337
NM_144612.6(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_144612.6(LOXHD1):c.4523G>A (p.Arg1508Lys) rs199518750
NM_144612.6(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498
NM_144612.6(LOXHD1):c.4824C>G (p.Val1608=) rs114557260
NM_144612.6(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417
NM_144612.6(LOXHD1):c.5213+13G>A rs59128481
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
NM_144612.6(LOXHD1):c.5506+12G>A rs200518261
NM_144612.6(LOXHD1):c.5997-11delG rs143514947
NM_144612.6(LOXHD1):c.6057T>C (p.Cys2019=) rs199645176
NM_144612.6(LOXHD1):c.6107C>T (p.Ala2036Val) rs1377016
NM_144612.6(LOXHD1):c.611-15T>C rs146912450
NM_144612.6(LOXHD1):c.6147C>T (p.Tyr2049=) rs374858340
NM_144612.6(LOXHD1):c.6413G>A (p.Arg2138Gln) rs148468627
NM_144612.6(LOXHD1):c.6555C>T (p.Ala2185=) rs189873733
NM_147196.2(TMIE):c.-37C>A rs530579940
NM_147196.2(TMIE):c.366T>G (p.Asp122Glu) rs370899710
NM_147196.2(TMIE):c.391_393dupAAG (p.Lys131_Asp132insLys) rs10578999
NM_153676.3(USH1C):c.*46T>C rs1055574
NM_153676.3(USH1C):c.1188A>G (p.Pro396=) rs2240487
NM_153676.3(USH1C):c.2340C>T (p.Val780=) rs10832796
NM_153676.3(USH1C):c.2457G>C (p.Glu819Asp) rs1064074
NM_153676.3(USH1C):c.2490+12G>C rs2072232
NM_194248.2(OTOF):c.*105C>T rs145899319
NM_194248.2(OTOF):c.*126G>A rs73920281
NM_194248.2(OTOF):c.1035C>T (p.Tyr345=) rs138885901
NM_194248.2(OTOF):c.1149G>C (p.Gly383=) rs142219516
NM_194248.2(OTOF):c.129C>T (p.Asp43=) rs116525289
NM_194248.2(OTOF):c.1424A>G (p.Glu475Gly) rs111033396
NM_194248.2(OTOF):c.158C>T (p.Ala53Val) rs1879761
NM_194248.2(OTOF):c.1640C>T (p.Thr547Met) rs200191563
NM_194248.2(OTOF):c.1961G>A (p.Arg654Gln) rs184605839
NM_194248.2(OTOF):c.1977G>A (p.Pro659=) rs145589784
NM_194248.2(OTOF):c.2022C>T (p.Asp674=) rs13004993
NM_194248.2(OTOF):c.2374C>T (p.Arg792Trp) rs148532589
NM_194248.2(OTOF):c.2401G>T (p.Glu801Ter) rs75624587
NM_194248.2(OTOF):c.2402A>T (p.Glu801Val) rs61739883
NM_194248.2(OTOF):c.244C>T (p.Arg82Cys) rs13031859
NM_194248.2(OTOF):c.245G>A (p.Arg82His) rs149766574
NM_194248.2(OTOF):c.2498A>T (p.Gln833Leu) rs191568463
NM_194248.2(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.2(OTOF):c.2613C>T (p.Leu871=) rs2272068
NM_194248.2(OTOF):c.2703G>A (p.Ser901=) rs4997760
NM_194248.2(OTOF):c.2829C>T (p.Gly943=) rs73920285
NM_194248.2(OTOF):c.2859C>T (p.Val953=) rs77414333
NM_194248.2(OTOF):c.297G>A (p.Thr99=) rs397517941
NM_194248.2(OTOF):c.3189G>A (p.Ala1063=) rs80356573
NM_194248.2(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776
NM_194248.2(OTOF):c.366C>T (p.Asp122=) rs61747283
NM_194248.2(OTOF):c.372A>G (p.Thr124=) rs11687696
NM_194248.2(OTOF):c.4629-9C>T rs72853726
NM_194248.2(OTOF):c.4677G>A (p.Val1559=) rs2272071
NM_194248.2(OTOF):c.4767C>T (p.Arg1589=) rs80356578
NM_194248.2(OTOF):c.4800-11C>T rs41286009
NM_194248.2(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.2(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.2(OTOF):c.509+10A>G rs76712142
NM_194248.2(OTOF):c.509+11G>A rs200010052
NM_194248.2(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.2(OTOF):c.5742G>A (p.Leu1914=) rs141235641
NM_194248.2(OTOF):c.945G>A (p.Lys315=) rs41288779
NM_198999.2(SLC26A5):c.137T>C (p.Leu46Pro) rs141952919
NM_198999.2(SLC26A5):c.153-10G>A rs200680274
NM_198999.2(SLC26A5):c.78G>A (p.Pro26=) rs141436712

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