NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu)
|
rs540794663
|
0.00210
|
NM_000441.1(SLC26A4):c.-103T>C
|
rs60284988
|
0.00209
|
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
|
rs139165033
|
0.00171
|
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)
|
rs149772470
|
0.00160
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_001378609.3(OTOGL):c.2564C>T (p.Pro855Leu)
|
rs183159689
|
0.00111
|
NM_203290.4(POLR1C):c.193A>G (p.Met65Val)
|
rs141471029
|
0.00100
|
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala)
|
rs146511800
|
0.00094
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00093
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)
|
rs192047082
|
0.00083
|
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met)
|
rs113688475
|
0.00081
|
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu)
|
rs117188693
|
0.00075
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys)
|
rs145268073
|
0.00070
|
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser)
|
rs186893662
|
0.00070
|
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977
|
0.00067
|
NM_174878.3(CLRN1):c.433+1061A>T
|
rs567709615
|
0.00067
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323
|
0.00061
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val)
|
rs200930743
|
0.00058
|
NM_001199799.2(ILDR1):c.461C>T (p.Ser154Leu)
|
rs115649165
|
0.00057
|
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys)
|
rs200242497
|
0.00056
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn)
|
rs147283064
|
0.00052
|
NM_001128228.3(TPRN):c.1573C>T (p.Arg525Trp)
|
rs138547889
|
0.00051
|
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)
|
rs142512524
|
0.00051
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)
|
rs138158369
|
0.00046
|
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)
|
rs141140798
|
0.00045
|
NM_001384474.1(LOXHD1):c.2575C>T (p.Arg859Trp)
|
rs372546084
|
0.00043
|
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln)
|
rs146333270
|
0.00042
|
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)
|
rs201076440
|
0.00039
|
NM_002850.4(PTPRS):c.2552G>T (p.Arg851Leu)
|
rs199604489
|
0.00037
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_002160.4(TNC):c.6211G>A (p.Glu2071Lys)
|
rs140573419
|
0.00036
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met)
|
rs144274136
|
0.00033
|
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn)
|
rs143663917
|
0.00031
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00031
|
NM_173477.5(USH1G):c.310A>G (p.Met104Val)
|
rs149529031
|
0.00031
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp)
|
rs200664061
|
0.00030
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu)
|
rs138768918
|
0.00029
|
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser)
|
rs199614124
|
0.00026
|
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp)
|
rs144259658
|
0.00026
|
NM_032229.3(SLITRK6):c.1318T>G (p.Leu440Val)
|
rs200767869
|
0.00025
|
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val)
|
rs200249886
|
0.00024
|
NM_001195263.2(PDZD7):c.802G>A (p.Asp268Asn)
|
rs202154862
|
0.00022
|
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu)
|
rs200701839
|
0.00022
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_017433.5(MYO3A):c.152T>A (p.Ile51Asn)
|
rs144008984
|
0.00021
|
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)
|
rs202214380
|
0.00020
|
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)
|
rs111033199
|
0.00019
|
NM_001039141.3(TRIOBP):c.6803G>A (p.Gly2268Asp)
|
rs200411253
|
0.00019
|
NM_001042517.2(DIAPH3):c.1291A>G (p.Thr431Ala)
|
rs746390263
|
0.00019
|
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter)
|
rs142746163
|
0.00019
|
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr)
|
rs181949335
|
0.00019
|
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys)
|
rs200124827
|
0.00018
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_153676.4(USH1C):c.1399C>T (p.Arg467Trp)
|
rs138996642
|
0.00017
|
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)
|
rs187447337
|
0.00016
|
NM_001384474.1(LOXHD1):c.2987G>A (p.Arg996His)
|
rs370708358
|
0.00016
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_006005.3(WFS1):c.2054G>A (p.Arg685His)
|
rs142668478
|
0.00014
|
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)
|
rs201007778
|
0.00014
|
NM_144672.4(OTOA):c.3377T>C (p.Leu1126Pro)
|
rs568139514
|
0.00014
|
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
|
rs373190681
|
0.00014
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_004999.4(MYO6):c.271G>A (p.Ala91Thr)
|
rs573770611
|
0.00013
|
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala)
|
rs146873772
|
0.00013
|
NM_012188.5(FOXI1):c.92A>G (p.Tyr31Cys)
|
rs777573595
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
|
rs201504674
|
0.00011
|
NM_001145809.2(MYH14):c.4731C>T (p.Ser1577=)
|
rs766728732
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_004817.4(TJP2):c.2909G>A (p.Arg970Gln)
|
rs150494393
|
0.00011
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)
|
rs376617494
|
0.00011
|
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys)
|
rs727503151
|
0.00010
|
NM_001844.5(COL2A1):c.3718C>T (p.Arg1240Trp)
|
rs374082762
|
0.00010
|
NM_198999.3(SLC26A5):c.775G>A (p.Val259Met)
|
rs765458806
|
0.00010
|
NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys)
|
rs569193097
|
0.00009
|
NM_001199799.2(ILDR1):c.655C>T (p.Arg219Cys)
|
rs1365655840
|
0.00009
|
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)
|
rs139805921
|
0.00009
|
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val)
|
rs373129508
|
0.00009
|
NM_002160.4(TNC):c.1822C>T (p.Arg608Cys)
|
rs138819573
|
0.00009
|
NM_002700.3(POU4F3):c.214C>G (p.His72Asp)
|
rs370712489
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
0.00009
|
NM_005422.4(TECTA):c.1132G>A (p.Val378Met)
|
rs372860835
|
0.00009
|
NM_022124.6(CDH23):c.8534G>A (p.Arg2845His)
|
rs199668532
|
0.00009
|
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg)
|
rs367693972
|
0.00009
|
NM_001379180.1(ESRRB):c.1027C>T (p.Arg343Trp)
|
rs143118664
|
0.00008
|
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)
|
rs104894407
|
0.00008
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp)
|
rs397517344
|
0.00008
|
NM_001256317.3(TMPRSS3):c.1076C>T (p.Ala359Val)
|
rs200777266
|
0.00007
|
NM_001854.4(COL11A1):c.5359G>A (p.Asp1787Asn)
|
rs144510951
|
0.00007
|
NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr)
|
rs200053059
|
0.00007
|
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys)
|
rs370232066
|
0.00006
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
NM_001110219.3(GJB6):c.-16+1G>A
|
rs946061258
|
0.00006
|
NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser)
|
rs769599110
|
0.00006
|
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu)
|
rs755485250
|
0.00006
|
NM_001384474.1(LOXHD1):c.3061+1G>A
|
rs537227442
|
0.00006
|
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg)
|
rs758076073
|
0.00006
|
NM_005422.4(TECTA):c.1123G>A (p.Val375Ile)
|
rs752254649
|
0.00006
|
NM_005422.4(TECTA):c.314A>G (p.Asn105Ser)
|
rs752159524
|
0.00006
|
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys)
|
rs141585847
|
0.00006
|
NM_006941.4(SOX10):c.274G>C (p.Val92Leu)
|
rs142113652
|
0.00006
|
NM_015404.4(WHRN):c.2307C>T (p.Gly769=)
|
rs148971049
|
0.00006
|
NM_022124.6(CDH23):c.9941C>T (p.Thr3314Met)
|
rs559427378
|
0.00006
|
NM_080680.3(COL11A2):c.3101G>A (p.Arg1034His)
|
rs957902805
|
0.00006
|
NM_001145026.2(PTPRQ):c.1015A>G (p.Arg339Gly)
|
rs1245108213
|
0.00005
|
NM_001145026.2(PTPRQ):c.2546C>T (p.Thr849Met)
|
rs974503422
|
0.00005
|
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu)
|
rs374572413
|
0.00005
|
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile)
|
rs200943280
|
0.00005
|
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)
|
rs376318779
|
0.00005
|
NM_080680.3(COL11A2):c.4202G>A (p.Arg1401Gln)
|
rs184399988
|
0.00005
|
NM_194248.3(OTOF):c.3428G>A (p.Arg1143Gln)
|
rs1330253297
|
0.00005
|
NM_001145809.2(MYH14):c.5105T>C (p.Val1702Ala)
|
rs775130663
|
0.00004
|
NM_001195263.2(PDZD7):c.481A>T (p.Met161Leu)
|
rs372777810
|
0.00004
|
NM_001292063.2(OTOG):c.3740G>A (p.Ser1247Asn)
|
rs955374063
|
0.00004
|
NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala)
|
rs201777220
|
0.00004
|
NM_001384140.1(PCDH15):c.952G>C (p.Asp318His)
|
rs747921916
|
0.00004
|
NM_001384474.1(LOXHD1):c.2314A>T (p.Ile772Phe)
|
rs1289895910
|
0.00004
|
NM_001384474.1(LOXHD1):c.5279A>C (p.Tyr1760Ser)
|
rs753708345
|
0.00004
|
NM_002160.4(TNC):c.2491G>A (p.Asp831Asn)
|
rs199896561
|
0.00004
|
NM_002850.4(PTPRS):c.3343G>A (p.Ala1115Thr)
|
rs769925793
|
0.00004
|
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)
|
rs587783644
|
0.00004
|
NM_004186.5(SEMA3F):c.1849G>A (p.Val617Met)
|
rs1399111219
|
0.00004
|
NM_016239.4(MYO15A):c.8281G>A (p.Val2761Met)
|
rs367717396
|
0.00004
|
NM_017780.4(CHD7):c.6293G>A (p.Arg2098Gln)
|
rs375199214
|
0.00004
|
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)
|
rs121912952
|
0.00004
|
NM_203290.4(POLR1C):c.608G>A (p.Arg203Gln)
|
rs767435882
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_000260.4(MYO7A):c.1399C>T (p.Arg467Trp)
|
rs782073796
|
0.00003
|
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val)
|
rs113326082
|
0.00003
|
NM_000260.4(MYO7A):c.5900G>A (p.Arg1967Gln)
|
rs752881271
|
0.00003
|
NM_000266.4(NDP):c.269G>A (p.Arg90His)
|
rs104894867
|
0.00003
|
NM_001002295.2(GATA3):c.359C>T (p.Thr120Met)
|
rs750735308
|
0.00003
|
NM_001127453.2(GSDME):c.611A>T (p.Asp204Val)
|
rs376564087
|
0.00003
|
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His)
|
rs727504915
|
0.00003
|
NM_001146079.2(CLDN14):c.89G>A (p.Trp30Ter)
|
rs1273842424
|
0.00003
|
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)
|
rs553507775
|
0.00003
|
NM_001378609.3(OTOGL):c.890T>G (p.Val297Gly)
|
rs776891390
|
0.00003
|
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His)
|
rs752185665
|
0.00003
|
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)
|
rs188119157
|
0.00003
|
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu)
|
rs750838060
|
0.00003
|
NM_002906.4(RDX):c.694G>A (p.Asp232Asn)
|
rs752091940
|
0.00003
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
NM_004817.4(TJP2):c.2708A>C (p.Tyr903Ser)
|
rs775354216
|
0.00003
|
NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser)
|
rs372399868
|
0.00003
|
NM_005982.4(SIX1):c.191G>A (p.Arg64His)
|
rs1051653507
|
0.00003
|
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp)
|
rs780168150
|
0.00003
|
NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu)
|
rs727503087
|
0.00003
|
NM_017433.5(MYO3A):c.233T>G (p.Val78Gly)
|
rs377015132
|
0.00003
|
NM_032119.4(ADGRV1):c.11783A>G (p.Tyr3928Cys)
|
rs1179343056
|
0.00003
|
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)
|
rs201332729
|
0.00003
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
NM_000218.3(KCNQ1):c.1128+5G>A
|
rs76735093
|
0.00002
|
NM_000260.4(MYO7A):c.5291A>G (p.Glu1764Gly)
|
rs759346941
|
0.00002
|
NM_001039213.4(CEACAM16):c.1135C>T (p.Arg379Trp)
|
rs771692758
|
0.00002
|
NM_001039213.4(CEACAM16):c.220G>A (p.Asp74Asn)
|
rs536837008
|
0.00002
|
NM_001378609.3(OTOGL):c.4544G>A (p.Arg1515Gln)
|
rs201232946
|
0.00002
|
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys)
|
rs774836161
|
0.00002
|
NM_002160.4(TNC):c.6148C>T (p.Arg2050Cys)
|
rs565954577
|
0.00002
|
NM_002473.6(MYH9):c.3103C>T (p.Arg1035Cys)
|
rs772948183
|
0.00002
|
NM_002906.4(RDX):c.1024C>T (p.Arg342Cys)
|
rs1030064754
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_005422.4(TECTA):c.5978G>A (p.Arg1993Gln)
|
rs199881827
|
0.00002
|
NM_005908.4(MANBA):c.2158-2A>G
|
rs772852668
|
0.00002
|
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln)
|
rs1454725137
|
0.00002
|
NM_015404.4(WHRN):c.508C>G (p.Leu170Val)
|
rs748546471
|
0.00002
|
NM_016239.4(MYO15A):c.9515A>G (p.Gln3172Arg)
|
rs375465287
|
0.00002
|
NM_022124.6(CDH23):c.2159G>A (p.Arg720Gln)
|
rs768074758
|
0.00002
|
NM_032119.4(ADGRV1):c.3245C>T (p.Pro1082Leu)
|
rs768921869
|
0.00002
|
NM_032119.4(ADGRV1):c.5969T>C (p.Val1990Ala)
|
rs376559614
|
0.00002
|
NM_080680.3(COL11A2):c.4481C>T (p.Pro1494Leu)
|
rs758796613
|
0.00002
|
NM_133261.3(GIPC3):c.880G>A (p.Asp294Asn)
|
rs779309926
|
0.00002
|
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu)
|
rs755694066
|
0.00002
|
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)
|
rs28942097
|
0.00002
|
NM_000260.4(MYO7A):c.1144G>T (p.Val382Leu)
|
rs782440130
|
0.00001
|
NM_000260.4(MYO7A):c.1792G>A (p.Ala598Thr)
|
rs566111152
|
0.00001
|
NM_000260.4(MYO7A):c.5786A>G (p.Gln1929Arg)
|
rs748331176
|
0.00001
|
NM_000441.2(SLC26A4):c.1146C>G (p.Asn382Lys)
|
rs780791787
|
0.00001
|
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala)
|
rs56017519
|
0.00001
|
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro)
|
rs1057518810
|
0.00001
|
NM_000441.2(SLC26A4):c.530A>C (p.Asp177Ala)
|
rs1395069567
|
0.00001
|
NM_000503.6(EYA1):c.398C>T (p.Pro133Leu)
|
rs138234228
|
0.00001
|
NM_000601.6(HGF):c.2183C>A (p.Ser728Ter)
|
rs747516423
|
0.00001
|
NM_001001331.4(ATP2B2):c.10A>G (p.Met4Val)
|
rs1473080344
|
0.00001
|
NM_001039141.3(TRIOBP):c.3692G>A (p.Arg1231His)
|
rs756780935
|
0.00001
|
NM_001039213.4(CEACAM16):c.1054C>T (p.Arg352Cys)
|
rs747961516
|
0.00001
|
NM_001042472.3(ABHD12):c.838G>A (p.Glu280Lys)
|
rs995580201
|
0.00001
|
NM_001042517.2(DIAPH3):c.2857A>T (p.Met953Leu)
|
rs776107505
|
0.00001
|
NM_001042517.2(DIAPH3):c.2863-3T>C
|
rs1029660130
|
0.00001
|
NM_001042702.5(PJVK):c.887G>A (p.Arg296Gln)
|
rs532114292
|
0.00001
|
NM_001124758.3(SPNS2):c.643C>G (p.Pro215Ala)
|
rs778581497
|
0.00001
|
NM_001128840.3(CACNA1D):c.1116+2T>C
|
rs747136766
|
0.00001
|
NM_001128840.3(CACNA1D):c.3682G>A (p.Glu1228Lys)
|
rs777098313
|
0.00001
|
NM_001128840.3(CACNA1D):c.6326G>C (p.Gly2109Ala)
|
rs199761259
|
0.00001
|
NM_001145308.5(LRTOMT):c.249C>G (p.Phe83Leu)
|
rs746981074
|
0.00001
|
NM_001145809.2(MYH14):c.3880C>G (p.Leu1294Val)
|
rs776801210
|
0.00001
|
NM_001145809.2(MYH14):c.3974G>A (p.Arg1325Gln)
|
rs201181045
|
0.00001
|
NM_001146079.2(CLDN14):c.169C>T (p.His57Tyr)
|
rs745601274
|
0.00001
|
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His)
|
rs368027306
|
0.00001
|
NM_001195263.2(PDZD7):c.1960C>T (p.Arg654Trp)
|
rs573956926
|
0.00001
|
NM_001195263.2(PDZD7):c.2695G>A (p.Ala899Thr)
|
rs911911177
|
0.00001
|
NM_001199799.2(ILDR1):c.182G>A (p.Arg61His)
|
rs138709949
|
0.00001
|
NM_001200.4(BMP2):c.178A>C (p.Met60Leu)
|
rs773113395
|
0.00001
|
NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp)
|
rs781395690
|
0.00001
|
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs)
|
rs397517376
|
0.00001
|
NM_001292063.2(OTOG):c.6250C>T (p.Arg2084Trp)
|
rs180901190
|
0.00001
|
NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys)
|
rs375515965
|
0.00001
|
NM_001378609.3(OTOGL):c.1892C>A (p.Ser631Tyr)
|
rs373638514
|
0.00001
|
NM_001378609.3(OTOGL):c.2854G>A (p.Gly952Arg)
|
rs759133667
|
0.00001
|
NM_001384140.1(PCDH15):c.1280T>C (p.Val427Ala)
|
rs142698812
|
0.00001
|
NM_001384474.1(LOXHD1):c.2326C>T (p.Arg776Cys)
|
rs1350221655
|
0.00001
|
NM_001692.4(ATP6V1B1):c.113G>A (p.Arg38His)
|
rs782166295
|
0.00001
|
NM_001851.6(COL9A1):c.2456C>T (p.Pro819Leu)
|
rs144581626
|
0.00001
|
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp)
|
rs778379327
|
0.00001
|
NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly)
|
rs756511227
|
0.00001
|
NM_002473.6(MYH9):c.3682G>A (p.Glu1228Lys)
|
rs746956415
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004086.3(COCH):c.1163A>G (p.Glu388Gly)
|
rs1703098416
|
0.00001
|
NM_004086.3(COCH):c.538C>T (p.Arg180Ter)
|
rs559481815
|
0.00001
|
NM_004525.3(LRP2):c.11798A>G (p.Tyr3933Cys)
|
rs1474741555
|
0.00001
|
NM_004817.4(TJP2):c.85T>C (p.Trp29Arg)
|
rs530470555
|
0.00001
|
NM_005422.4(TECTA):c.1475T>C (p.Val492Ala)
|
rs753099302
|
0.00001
|
NM_005422.4(TECTA):c.2367G>A (p.Lys789=)
|
rs1448260319
|
0.00001
|
NM_006005.3(WFS1):c.2437G>A (p.Val813Met)
|
rs756972444
|
0.00001
|
NM_014918.5(CHSY1):c.779G>A (p.Arg260Gln)
|
rs1280894999
|
0.00001
|
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter)
|
rs763075073
|
0.00001
|
NM_016239.4(MYO15A):c.3646C>T (p.Arg1216Cys)
|
rs547573001
|
0.00001
|
NM_016239.4(MYO15A):c.4039A>T (p.Ile1347Phe)
|
rs375627187
|
0.00001
|
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)
|
rs767270134
|
0.00001
|
NM_016239.4(MYO15A):c.5491G>A (p.Gly1831Arg)
|
rs1260018632
|
0.00001
|
NM_016366.3(CABP2):c.470T>C (p.Leu157Pro)
|
rs1349245853
|
0.00001
|
NM_017780.4(CHD7):c.6205C>G (p.Leu2069Val)
|
rs752107963
|
0.00001
|
NM_018429.3(BDP1):c.7744-1G>A
|
rs772970426
|
0.00001
|
NM_020982.4(CLDN9):c.416C>T (p.Thr139Met)
|
rs571860251
|
0.00001
|
NM_022124.6(CDH23):c.3445A>G (p.Asn1149Asp)
|
rs754128851
|
0.00001
|
NM_022124.6(CDH23):c.6546C>T (p.Ser2182=)
|
rs749008207
|
0.00001
|
NM_022124.6(CDH23):c.6980T>A (p.Leu2327His)
|
rs995094571
|
0.00001
|
NM_024915.4(GRHL2):c.1337G>A (p.Cys446Tyr)
|
rs543526703
|
0.00001
|
NM_032119.4(ADGRV1):c.14474A>G (p.Asp4825Gly)
|
rs377619015
|
0.00001
|
NM_032119.4(ADGRV1):c.16625C>A (p.Ala5542Asp)
|
rs373121319
|
0.00001
|
NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met)
|
rs755818826
|
0.00001
|
NM_080680.3(COL11A2):c.74G>A (p.Gly25Asp)
|
rs1482152365
|
0.00001
|
NM_138691.3(TMC1):c.1334G>A (p.Arg445His)
|
rs760532554
|
0.00001
|
NM_138691.3(TMC1):c.1660A>T (p.Asn554Tyr)
|
rs776624164
|
0.00001
|
NM_138691.3(TMC1):c.352G>T (p.Glu118Ter)
|
rs1439351996
|
0.00001
|
NM_144991.3(TSPEAR):c.1162G>A (p.Val388Met)
|
rs1318971093
|
0.00001
|
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)
|
rs397517874
|
0.00001
|
NM_153676.4(USH1C):c.424A>G (p.Ile142Val)
|
rs771861342
|
0.00001
|
NM_153676.4(USH1C):c.893T>C (p.Met298Thr)
|
rs1461497965
|
0.00001
|
NM_194248.3(OTOF):c.1882G>A (p.Asp628Asn)
|
rs1004631548
|
0.00001
|
NM_194248.3(OTOF):c.2719C>T (p.Gln907Ter)
|
rs1249447410
|
0.00001
|
NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp)
|
rs1172714485
|
0.00001
|
NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu)
|
rs755020832
|
0.00001
|
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val)
|
rs779875423
|
0.00001
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu)
|
rs373811292
|
0.00001
|
NR_029512.1(MIR96):n.68A>G
|
rs1425528986
|
0.00001
|
GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)
|
|
|
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu)
|
rs560592940
|
|
NM_000091.5(COL4A3):c.4720T>C (p.Trp1574Arg)
|
rs2106289541
|
|
NM_000092.5(COL4A4):c.3736G>A (p.Ala1246Thr)
|
rs2149978588
|
|
NM_000260.4(MYO7A):c.1021C>G (p.Leu341Val)
|
rs782765242
|
|
NM_000260.4(MYO7A):c.1211G>A (p.Gly404Glu)
|
rs973746837
|
|
NM_000260.4(MYO7A):c.152A>C (p.Gln51Pro)
|
rs375662903
|
|
NM_000260.4(MYO7A):c.2386C>T (p.Arg796Trp)
|
rs111033339
|
|
NM_000260.4(MYO7A):c.2666C>T (p.Ala889Val)
|
rs2135478407
|
|
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val)
|
rs2135575353
|
|
NM_000260.4(MYO7A):c.3992A>G (p.Lys1331Arg)
|
rs2135575658
|
|
NM_000260.4(MYO7A):c.4107G>T (p.Gln1369His)
|
rs1565440220
|
|
NM_000260.4(MYO7A):c.4442-1G>C
|
rs1485456037
|
|
NM_000441.2(SLC26A4):c.1416G>A (p.Trp472Ter)
|
|
|
NM_000441.2(SLC26A4):c.1693T>G (p.Cys565Gly)
|
rs767255075
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg)
|
rs761210511
|
|
NM_001002295.2(GATA3):c.153dup (p.Asn52Ter)
|
rs2131482893
|
|
NM_001038603.3(MARVELD2):c.1331+2T>C
|
rs772048719
|
|
NM_001038603.3(MARVELD2):c.880_890del (p.Phe294fs)
|
rs770042200
|
|
NM_001039141.3(TRIOBP):c.2297dup (p.Asn767fs)
|
rs2145833923
|
|
NM_001039141.3(TRIOBP):c.3910C>T (p.Arg1304Cys)
|
rs550274094
|
|
NM_001039141.3(TRIOBP):c.4436del (p.Gly1479fs)
|
rs756145453
|
|
NM_001039141.3(TRIOBP):c.5476A>C (p.Thr1826Pro)
|
rs1925835902
|
|
NM_001039141.3(TRIOBP):c.6049G>C (p.Asp2017His)
|
rs766424671
|
|
NM_001039141.3(TRIOBP):c.6328G>A (p.Ala2110Thr)
|
rs1302649675
|
|
NM_001042517.2(DIAPH3):c.2266-2A>G
|
rs1593949468
|
|
NM_001042517.2(DIAPH3):c.517C>G (p.Gln173Glu)
|
rs1594483260
|
|
NM_001042702.5(PJVK):c.113T>C (p.Val38Ala)
|
rs1339903244
|
|
NM_001122659.3(EDNRB):c.878dup (p.Tyr293Ter)
|
rs1064797177
|
|
NM_001122659.3(EDNRB):c.924G>T (p.Gln308His)
|
rs1878949429
|
|
NM_001128840.3(CACNA1D):c.3614C>T (p.Ser1205Leu)
|
rs1183389331
|
|
NM_001145026.2(PTPRQ):c.1133C>A (p.Thr378Asn)
|
rs2120546591
|
|
NM_001145026.2(PTPRQ):c.147_158del (p.Thr51_Thr54del)
|
rs368946018
|
|
NM_001145026.2(PTPRQ):c.6883G>A (p.Glu2295Lys)
|
rs2121305975
|
|
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe)
|
rs1560070780
|
|
NM_001145319.2(PLS1):c.713T>G (p.Leu238Arg)
|
rs1577888561
|
|
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)
|
rs753356694
|
|
NM_001145809.2(MYH14):c.4549G>A (p.Glu1517Lys)
|
rs2123437042
|
|
NM_001145809.2(MYH14):c.5707C>T (p.Arg1903Cys)
|
rs372637743
|
|
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)
|
rs74315437
|
|
NM_001195263.2(PDZD7):c.1522+2dup
|
rs2134047337
|
|
NM_001195263.2(PDZD7):c.2033C>T (p.Pro678Leu)
|
rs1170141042
|
|
NM_001195263.2(PDZD7):c.2624G>C (p.Ser875Thr)
|
rs2133994567
|
|
NM_001198533.2(OXR1):c.233A>G (p.Lys78Arg)
|
|
|
NM_001256317.3(TMPRSS3):c.1221del (p.Glu408fs)
|
rs2146421764
|
|
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)
|
rs727503493
|
|
NM_001256317.3(TMPRSS3):c.307G>A (p.Asp103Asn)
|
rs2052684166
|
|
NM_001256317.3(TMPRSS3):c.323-6G>A
|
rs374793617
|
|
NM_001256317.3(TMPRSS3):c.335G>T (p.Gly112Val)
|
rs1163178020
|
|
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys)
|
rs137852999
|
|
NM_001256317.3(TMPRSS3):c.965C>A (p.Pro322His)
|
rs2146430688
|
|
NM_001277269.2:c.(?_3914)_(6474_?)del
|
|
|
NM_001292063.2(OTOG):c.1198C>T (p.Gln400Ter)
|
rs2134007236
|
|
NM_001292063.2(OTOG):c.1451G>T (p.Cys484Phe)
|
rs1051388148
|
|
NM_001292063.2(OTOG):c.2760-3C>G
|
rs1590021279
|
|
NM_001292063.2(OTOG):c.882C>G (p.Asp294Glu)
|
rs553788179
|
|
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)
|
rs104893746
|
|
NM_001354604.2(MITF):c.979A>C (p.Ile327Leu)
|
rs2107529990
|
|
NM_001371333.1(DIABLO):c.702_712del (p.Tyr235fs)
|
rs1057519151
|
|
NM_001371623.1(TCOF1):c.325A>G (p.Asn109Asp)
|
rs2150538355
|
|
NM_001378454.1(ALMS1):c.3G>A (p.Met1Ile)
|
rs2104056063
|
|
NM_001378457.1(DMXL2):c.2912T>C (p.Ile971Thr)
|
rs929185965
|
|
NM_001384140.1(PCDH15):c.386T>G (p.Ile129Ser)
|
rs1330084526
|
|
NM_001384474.1(LOXHD1):c.1904T>C (p.Leu635Pro)
|
rs1051629865
|
|
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs)
|
rs776345911
|
|
NM_001384474.1(LOXHD1):c.5907T>A (p.Tyr1969Ter)
|
rs1598827506
|
|
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)
|
rs267606631
|
|
NM_001614.5(ACTG1):c.842C>G (p.Ser281Cys)
|
rs2143775658
|
|
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp)
|
rs727505222
|
|
NM_001851.6(COL9A1):c.82C>T (p.Arg28Cys)
|
rs745566207
|
|
NM_001853.4(COL9A3):c.1588G>T (p.Gly530Trp)
|
rs759377762
|
|
NM_001853.4(COL9A3):c.1924G>T (p.Gly642Trp)
|
rs758789140
|
|
NM_001853.4(COL9A3):c.583A>G (p.Thr195Ala)
|
rs746531996
|
|
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala)
|
rs1477374848
|
|
NM_001854.4(COL11A1):c.3472G>T (p.Val1158Phe)
|
rs2101222310
|
|
NM_001854.4(COL11A1):c.4302+2T>C
|
rs1553196233
|
|
NM_001854.4(COL11A1):c.4691A>G (p.Asp1564Gly)
|
rs2100840741
|
|
NM_001854.4(COL11A1):c.5274+4A>C
|
rs753930720
|
|
NM_001854.4(COL11A1):c.652-1G>C
|
rs1064797115
|
|
NM_002160.4(TNC):c.490C>G (p.Arg164Gly)
|
rs778273542
|
|
NM_002160.4(TNC):c.5611A>G (p.Lys1871Glu)
|
rs1394493737
|
|
NM_002473.6(MYH9):c.3013A>G (p.Thr1005Ala)
|
rs2146341726
|
|
NM_002700.3(POU4F3):c.545C>G (p.Ser182Ter)
|
rs1284441535
|
|
NM_002700.3(POU4F3):c.746A>C (p.Gln249Pro)
|
rs2126961833
|
|
NM_002700.3(POU4F3):c.966C>G (p.Phe322Leu)
|
rs1760437546
|
|
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr)
|
rs587783645
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.35dup (p.Val13fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)
|
rs587783646
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004086.3(COCH):c.1423G>C (p.Asp475His)
|
rs2138878739
|
|
NM_004086.3(COCH):c.151C>T (p.Pro51Ser)
|
rs28938175
|
|
NM_004100.5(EYA4):c.1286G>C (p.Cys429Ser)
|
rs1446619876
|
|
NM_004100.5(EYA4):c.1463dup (p.Glu490fs)
|
rs2128782580
|
|
NM_004525.3(LRP2):c.7715+3A>T
|
rs797045684
|
|
NM_004525.3(LRP2):c.8452_8452+1del
|
|
|
NM_004525.3(LRP2):c.9449G>A (p.Cys3150Tyr)
|
|
|
NM_004568.6(SERPINB6):c.290A>G (p.Glu97Gly)
|
rs2113203054
|
|
NM_004700.4(KCNQ4):c.1251del (p.Cys418fs)
|
rs2148324207
|
|
NM_004999.4(MYO6):c.1477C>A (p.Gln493Lys)
|
rs759114945
|
|
NM_004999.4(MYO6):c.1756G>C (p.Val586Leu)
|
rs1776720096
|
|
NM_004999.4(MYO6):c.2267T>A (p.Val756Glu)
|
rs1777894570
|
|
NM_004999.4(MYO6):c.2397C>A (p.Cys799Ter)
|
rs2149347766
|
|
NM_004999.4(MYO6):c.3340dup (p.Ala1114fs)
|
|
|
NM_004999.4(MYO6):c.3518T>C (p.Ile1173Thr)
|
rs2149433527
|
|
NM_004999.4(MYO6):c.3764G>A (p.Arg1255His)
|
rs751099407
|
|
NM_004999.4(MYO6):c.835A>T (p.Thr279Ser)
|
rs2150265571
|
|
NM_004999.4(MYO6):c.866_869del (p.Lys289fs)
|
rs749752357
|
|
NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu)
|
rs762356974
|
|
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)
|
rs1235751512
|
|
NM_005219.5(DIAPH1):c.946C>G (p.Gln316Glu)
|
rs2154596450
|
|
NM_005422.4(TECTA):c.1807T>C (p.Tyr603His)
|
rs2135080936
|
|
NM_005422.4(TECTA):c.2279A>T (p.Asp760Val)
|
rs1456495966
|
|
NM_005422.4(TECTA):c.2359del (p.Glu787fs)
|
rs1057519150
|
|
NM_005422.4(TECTA):c.2785del (p.Val929fs)
|
rs34851638
|
|
NM_005422.4(TECTA):c.4214G>A (p.Gly1405Asp)
|
rs1216336175
|
|
NM_005422.4(TECTA):c.5272+4A>G
|
rs1591461465
|
|
NM_005422.4(TECTA):c.668C>T (p.Pro223Leu)
|
rs773877361
|
|
NM_005702.4(ERAL1):c.685A>T (p.Ile229Phe)
|
rs2152642391
|
|
NM_005908.4(MANBA):c.1649G>A (p.Arg550Gln)
|
rs745958233
|
|
NM_005982.4(SIX1):c.313G>T (p.Ala105Ser)
|
rs2140241237
|
|
NM_005982.4(SIX1):c.338G>A (p.Arg113Gln)
|
rs2140241207
|
|
NM_006005.3(WFS1):c.2498T>A (p.Leu833Gln)
|
rs1386290018
|
|
NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp)
|
rs1053809070
|
|
NM_014208.3(DSPP):c.-21T>C
|
rs1553903873
|
|
NM_014332.3(SMPX):c.140del (p.Pro47fs)
|
rs2147387122
|
|
NM_014332.3(SMPX):c.238C>G (p.Leu80Val)
|
rs2147386996
|
|
NM_015972.4(POLR1D):c.251T>A (p.Ile84Asn)
|
rs2138519035
|
|
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs)
|
rs750130520
|
|
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)
|
rs769260536
|
|
NM_016239.4(MYO15A):c.1238G>C (p.Trp413Ser)
|
rs2142245203
|
|
NM_016239.4(MYO15A):c.266A>C (p.Gln89Pro)
|
rs2142237084
|
|
NM_016239.4(MYO15A):c.2873del (p.Pro958fs)
|
rs1217492313
|
|
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys)
|
rs1060499798
|
|
NM_016239.4(MYO15A):c.8261C>T (p.Thr2754Met)
|
rs766544188
|
|
NM_016239.4(MYO15A):c.9467T>C (p.Leu3156Pro)
|
rs2046774616
|
|
NM_016239.4(MYO15A):c.9583C>T (p.Pro3195Ser)
|
rs2142402540
|
|
NM_016239.4(MYO15A):c.9620G>T (p.Arg3207Leu)
|
rs199621031
|
|
NM_016929.5(CLIC5):c.614A>G (p.Tyr205Cys)
|
rs2127294197
|
|
NM_017780.4(CHD7):c.8423A>C (p.Asn2808Thr)
|
rs368224943
|
|
NM_022124.6(CDH23):c.1129G>A (p.Asp377Asn)
|
rs779502033
|
|
NM_022124.6(CDH23):c.1484T>G (p.Val495Gly)
|
rs2132664465
|
|
NM_022124.6(CDH23):c.3215C>A (p.Ala1072Asp)
|
rs2132751525
|
|
NM_022124.6(CDH23):c.8299T>C (p.Phe2767Leu)
|
rs370903798
|
|
NM_022124.6(CDH23):c.833G>A (p.Gly278Glu)
|
rs1861130719
|
|
NM_024009.3(GJB3):c.196_198del (p.Asp66del)
|
rs786200895
|
|
NM_032119.4(ADGRV1):c.1477C>T (p.Arg493Ter)
|
rs779948710
|
|
NM_032119.4(ADGRV1):c.16368G>C (p.Lys5456Asn)
|
rs2150302151
|
|
NM_032119.4(ADGRV1):c.17333T>C (p.Leu5778Pro)
|
rs2150406842
|
|
NM_032119.4(ADGRV1):c.1954A>G (p.Ile652Val)
|
rs749308308
|
|
NM_032119.4(ADGRV1):c.3232G>A (p.Glu1078Lys)
|
rs2149447085
|
|
NM_032119.4(ADGRV1):c.6274A>C (p.Ile2092Leu)
|
rs2149586553
|
|
NM_032119.4(ADGRV1):c.7319C>T (p.Ala2440Val)
|
rs2149640041
|
|
NM_032119.4(ADGRV1):c.9512T>C (p.Leu3171Ser)
|
rs2149767008
|
|
NM_032229.3(SLITRK6):c.1492C>T (p.Pro498Ser)
|
rs755925837
|
|
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)
|
rs281874743
|
|
NM_057176.3(BSND):c.10G>T (p.Glu4Ter)
|
rs121908145
|
|
NM_057176.3(BSND):c.254T>C (p.Leu85Pro)
|
rs2101647654
|
|
NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser)
|
rs1583334125
|
|
NM_080680.3(COL11A2):c.4338+5G>A
|
rs2150522213
|
|
NM_080680.3(COL11A2):c.4540C>T (p.Arg1514Cys)
|
rs780071501
|
|
NM_080680.3(COL11A2):c.4847G>T (p.Arg1616Met)
|
rs1366292773
|
|
NM_133261.3(GIPC3):c.137G>A (p.Gly46Glu)
|
rs2145268433
|
|
NM_133261.3(GIPC3):c.319C>G (p.Arg107Gly)
|
rs138707041
|
|
NM_133261.3(GIPC3):c.937T>C (p.Ter313Gln)
|
rs1466835034
|
|
NM_144672.4(OTOA):c.181T>C (p.Ser61Pro)
|
rs369772866
|
|
NM_153676.4(USH1C):c.580-2A>T
|
rs1850678559
|
|
NM_153676.4(USH1C):c.658C>G (p.Arg220Gly)
|
rs766327614
|
|
NM_153700.2(STRC):c.3091C>A (p.Pro1031Thr)
|
rs1595961729
|
|
NM_153700.2:c.(?_1)_(5328_?)del
|
|
|
NM_153700.2:c.(?_3499)_(4993_?)del
|
|
|
NM_173477.5(USH1G):c.314C>T (p.Ala105Val)
|
rs1567940507
|
|
NM_173477.5(USH1G):c.854dup (p.Ala286fs)
|
rs1567939718
|
|
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)
|
rs1553776135
|
|
NM_181458.4(PAX3):c.1145C>A (p.Pro382His)
|
rs756229758
|
|
NM_182548.4(LHFPL5):c.504C>G (p.Tyr168Ter)
|
rs1389821363
|
|
NM_182548.4(LHFPL5):c.592G>A (p.Val198Met)
|
rs369419802
|
|
NM_194248.3(OTOF):c.2677-2A>G
|
rs1057518840
|
|
NM_194248.3(OTOF):c.4440G>A (p.Met1480Ile)
|
rs727503354
|
|
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)
|
rs147321712
|
|
NM_194248.3(OTOF):c.874A>G (p.Thr292Ala)
|
rs2148071933
|
|
NM_206933.4(USH2A):c.1270A>T (p.Met424Leu)
|
rs2102654082
|
|
NM_206933.4(USH2A):c.14396C>T (p.Thr4799Ile)
|
rs2102643267
|
|
NM_206933.4(USH2A):c.5320T>A (p.Leu1774Met)
|
rs2102554556
|
|
NM_206933.4(USH2A):c.5919G>A (p.Val1973=)
|
rs2102546199
|
|
NM_206933.4(USH2A):c.8452C>T (p.Pro2818Ser)
|
rs1470809474
|
|
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)
|
rs756163056
|
|
Single allele
|
|
|