NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu)
|
rs33962952
|
0.02416
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_198999.3(SLC26A5):c.-53-2A>G
|
rs116900495
|
0.00748
|
NM_005379.4(MYO1A):c.916G>A (p.Val306Met)
|
rs55679042
|
0.00570
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)
|
rs119103280
|
0.00303
|
NM_000441.1(SLC26A4):c.-103T>C
|
rs60284988
|
0.00209
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)
|
rs145451123
|
0.00098
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_005797.4(MPZL2):c.72del (p.Ile24fs)
|
rs752672077
|
0.00069
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_033284.2(TBL1Y):c.206A>T (p.Asp69Val)
|
rs199659121
|
0.00058
|
NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu)
|
rs199721728
|
0.00055
|
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter)
|
rs146689036
|
0.00041
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
NM_002160.4(TNC):c.5317G>A (p.Val1773Met)
|
rs137933052
|
0.00025
|
NM_001080476.3(GRXCR1):c.627+19A>T
|
rs201824235
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)
|
rs74315318
|
0.00019
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_001276277.3(PPIP5K2):c.2510G>A (p.Arg837His)
|
rs548137246
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_024063.3(AFG2B):c.1398T>G (p.Ile466Met)
|
rs34675173
|
0.00011
|
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)
|
rs118204026
|
0.00010
|
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter)
|
rs118203989
|
0.00010
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met)
|
rs104893976
|
0.00010
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)
|
rs137853074
|
0.00008
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly)
|
rs281865414
|
0.00006
|
NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp)
|
rs61753849
|
0.00006
|
NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn)
|
rs397514746
|
0.00006
|
NM_024063.3(AFG2B):c.2147_2148del (p.Gln716fs)
|
rs763343580
|
0.00006
|
NM_024063.3(AFG2B):c.606_619dup (p.Glu207fs)
|
rs765912979
|
0.00006
|
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
|
rs121908073
|
0.00006
|
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu)
|
rs121909340
|
0.00005
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg)
|
rs74315438
|
0.00004
|
NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser)
|
rs775633137
|
0.00004
|
NM_001393500.2(TOMT):c.229G>A (p.Glu77Lys)
|
rs137853187
|
0.00004
|
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)
|
rs184474885
|
0.00004
|
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)
|
rs1270302810
|
0.00004
|
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)
|
rs121912952
|
0.00004
|
NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser)
|
rs587777133
|
0.00004
|
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)
|
rs80356593
|
0.00004
|
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)
|
rs80356605
|
0.00004
|
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)
|
rs121908363
|
0.00003
|
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter)
|
rs118204031
|
0.00003
|
NM_001080476.3(GRXCR1):c.628-9C>A
|
rs606231120
|
0.00003
|
NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter)
|
rs371100799
|
0.00003
|
NM_001256317.3(TMPRSS3):c.647G>T (p.Arg216Leu)
|
rs137853000
|
0.00003
|
NM_001304438.2(TMEM132E):c.1529G>A (p.Arg510Gln)
|
rs139895222
|
0.00003
|
NM_001375524.1(TRRAP):c.511C>T (p.Arg171Cys)
|
rs200157211
|
0.00003
|
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His)
|
rs754786373
|
0.00003
|
NM_001378609.3(OTOGL):c.1457del (p.Val486fs)
|
rs1233562246
|
0.00003
|
NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter)
|
rs397514588
|
0.00003
|
NM_003672.4(CDC14A):c.376del (p.Tyr126fs)
|
rs759201338
|
0.00003
|
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
|
rs28931592
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_004086.3(COCH):c.292C>T (p.Arg98Ter)
|
rs756790858
|
0.00003
|
NM_004526.4(MCM2):c.130C>T (p.Arg44Cys)
|
rs375851208
|
0.00003
|
NM_005548.3(KARS1):c.433T>C (p.Tyr145His)
|
rs397514745
|
0.00003
|
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)
|
rs397515411
|
0.00003
|
NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln)
|
rs121909341
|
0.00003
|
NM_012478.4(WBP2):c.478G>A (p.Ala160Thr)
|
rs202022024
|
0.00003
|
NM_016239.4(MYO15A):c.3756+1G>T
|
rs748108031
|
0.00003
|
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)
|
rs74315319
|
0.00003
|
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)
|
rs773224617
|
0.00003
|
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser)
|
rs779748859
|
0.00003
|
NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys)
|
rs104893975
|
0.00003
|
NM_001031679.3(MSRB3):c.55C>T (p.Arg19Ter)
|
rs149258390
|
0.00002
|
NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter)
|
rs118204029
|
0.00002
|
NM_001393500.2(TOMT):c.259+4A>C
|
rs545947177
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)
|
rs121912618
|
0.00002
|
NM_133261.3(GIPC3):c.136G>A (p.Gly46Arg)
|
rs946085339
|
0.00002
|
NM_138691.3(TMC1):c.1960A>G (p.Met654Val)
|
rs121908074
|
0.00002
|
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)
|
rs28942097
|
0.00002
|
NM_000260.4(MYO7A):c.133-2A>G
|
rs782064437
|
0.00001
|
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly)
|
rs387907088
|
0.00001
|
NM_001038603.3(MARVELD2):c.1183-1G>A
|
rs200781822
|
0.00001
|
NM_001038603.3(MARVELD2):c.1331+1G>A
|
rs762352115
|
0.00001
|
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter)
|
rs118204030
|
0.00001
|
NM_001039876.3(SYNE4):c.228_229del (p.Trp77fs)
|
rs587777072
|
0.00001
|
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)
|
rs111706634
|
0.00001
|
NM_001080476.3(GRXCR1):c.412C>T (p.Arg138Cys)
|
rs267606856
|
0.00001
|
NM_001110219.3(GJB6):c.14C>T (p.Thr5Met)
|
rs104894414
|
0.00001
|
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter)
|
rs267607135
|
0.00001
|
NM_001135022.2(ELMOD3):c.512A>G (p.His171Arg)
|
rs1280785617
|
0.00001
|
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His)
|
rs368027306
|
0.00001
|
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)
|
rs753034799
|
0.00001
|
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)
|
rs483352866
|
0.00001
|
NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu)
|
rs28939084
|
0.00001
|
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter)
|
rs397514608
|
0.00001
|
NM_001304438.2(TMEM132E):c.2474C>T (p.Pro825Leu)
|
rs370232097
|
0.00001
|
NM_001304438.2(TMEM132E):c.382G>T (p.Ala128Ser)
|
rs766225189
|
0.00001
|
NM_001378609.3(OTOGL):c.5265+5G>A
|
rs902734999
|
0.00001
|
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)
|
rs267606932
|
0.00001
|
NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter)
|
rs121918370
|
0.00001
|
NM_001393500.2(TOMT):c.143G>A (p.Arg48Gln)
|
rs137853185
|
0.00001
|
NM_002906.4(RDX):c.698+1G>A
|
rs1191259480
|
0.00001
|
NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter)
|
rs777112652
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
|
rs28931593
|
0.00001
|
NM_004086.3(COCH):c.1535T>C (p.Met512Thr)
|
rs121908934
|
0.00001
|
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)
|
rs80358277
|
0.00001
|
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)
|
rs28939710
|
0.00001
|
NM_004996.4(ABCC1):c.1769A>G (p.Asn590Ser)
|
rs199797323
|
0.00001
|
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter)
|
rs121912561
|
0.00001
|
NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter)
|
rs121912558
|
0.00001
|
NM_004999.4(MYO6):c.647A>T (p.Glu216Val)
|
rs121912559
|
0.00001
|
NM_005379.4(MYO1A):c.2728T>C (p.Ser910Pro)
|
rs121909306
|
0.00001
|
NM_005909.5(MAP1B):c.4198A>G (p.Ser1400Gly)
|
rs753026898
|
0.00001
|
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp)
|
rs28937895
|
0.00001
|
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu)
|
rs370564476
|
0.00001
|
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)
|
rs121908354
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp)
|
rs200656442
|
0.00001
|
NM_144991.3(TSPEAR):c.1728del (p.Lys577fs)
|
rs782540538
|
0.00001
|
NM_147196.3(TMIE):c.241C>T (p.Arg81Cys)
|
rs28942096
|
0.00001
|
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp)
|
rs28941781
|
0.00001
|
NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter)
|
rs119477055
|
0.00001
|
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr)
|
rs80356586
|
0.00001
|
NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser)
|
rs397515435
|
0.00001
|
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)
|
rs111033349
|
0.00001
|
NC_000013.11:g.60163939G>A
|
rs2138511749
|
|
NC_000015.10:g.(?_43599438)_(43608225_43613711)del
|
|
|
NC_000016.8:g.(21419562_?)_(?_21746863)del
|
|
|
NC_012920.1:m.1494C>T
|
rs267606619
|
|
NC_012920.1:m.1555A>G
|
rs267606617
|
|
NC_012920.1:m.7444G>A
|
rs199474822
|
|
NC_012920.1:m.7445A>G
|
rs199474818
|
|
NC_012920.1:m.7471dup
|
rs111033319
|
|
NC_012920.1:m.7505T>C
|
rs724159989
|
|
NC_012920.1:m.827A>G
|
rs28358569
|
|
NG_011593.1:g.55397_56585delins59701_59837invGCCCA
|
|
|
NM_000245.4(MET):c.2521T>G (p.Phe841Val)
|
rs794728016
|
|
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)
|
rs387906700
|
|
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile)
|
rs121965084
|
|
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)
|
rs121965082
|
|
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser)
|
rs387906699
|
|
NM_000260.4(MYO7A):c.2662_2670del (p.Lys888_Lys890del)
|
rs2135478294
|
|
NM_000260.4(MYO7A):c.3596dup (p.Cys1201fs)
|
rs2135550200
|
|
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del)
|
rs1555102843
|
|
NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro)
|
rs121965081
|
|
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)
|
rs104894922
|
|
NM_000307.5(POU3F4):c.1060del (p.Thr354fs)
|
rs398122517
|
|
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter)
|
rs104894920
|
|
NM_000307.5(POU3F4):c.648del (p.Leu217fs)
|
rs1555984570
|
|
NM_000307.5(POU3F4):c.862_865del (p.Val289fs)
|
rs730882189
|
|
NM_000307.5(POU3F4):c.896del (p.Lys299fs)
|
rs267606974
|
|
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val)
|
rs387906502
|
|
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp)
|
rs104894921
|
|
NM_000307.5(POU3F4):c.950dup (p.Leu317fs)
|
rs398122516
|
|
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly)
|
rs104894924
|
|
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser)
|
rs104894923
|
|
NM_000441.1(SLC26A4):c.[1468A>C;1489G>A]
|
|
|
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu)
|
rs121908361
|
|
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val)
|
rs121908364
|
|
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys)
|
rs121908366
|
|
NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs)
|
rs1554362735
|
|
NM_000441.2(SLC26A4):c.917del (p.Val306fs)
|
rs1584317722
|
|
NM_000601.6(HGF):c.482+1986_482+1988del
|
rs1788701297
|
|
NM_000601.6(HGF):c.482+1991_482+2000del
|
|
|
NM_000601.6(HGF):c.495G>A (p.Ser165=)
|
rs137853235
|
|
NM_000899.5(KITLG):c.200_202del (p.His67_Cys68delinsArg)
|
rs864309654
|
|
NM_000899.5(KITLG):c.286_303delinsT (p.Leu95_Ser96insTer)
|
rs864309653
|
|
NM_001001331.4(ATP2B2):c.1963G>T (p.Glu655Ter)
|
rs267599520
|
|
NM_001001331.4(ATP2B2):c.1998C>A (p.Cys666Ter)
|
rs752990722
|
|
NM_001001331.4(ATP2B2):c.2329C>T (p.Arg777Ter)
|
rs2060537889
|
|
NM_001001331.4(ATP2B2):c.955del (p.Ala319fs)
|
rs2124844270
|
|
NM_001004051.4(GPRASP2):c.1717_1718delinsAA (p.Ala573Asn)
|
rs1569491884
|
|
NM_001037582.3(SCD5):c.626G>C (p.Trp209Ser)
|
rs192654796
|
|
NM_001038603.3(MARVELD2):c.1331+2T>C
|
rs772048719
|
|
NM_001038603.3(MARVELD2):c.1331+4_1331+7del
|
|
|
NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter)
|
rs118204027
|
|
NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs)
|
rs1601632909
|
|
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs)
|
rs768625959
|
|
NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter)
|
rs118204028
|
|
NM_001039213.4(CEACAM16):c.37G>T (p.Ala13Ser)
|
rs1198256157
|
|
NM_001039213.4(CEACAM16):c.418A>C (p.Thr140Pro)
|
rs387907149
|
|
NM_001039213.4(CEACAM16):c.505G>A (p.Gly169Arg)
|
rs876661405
|
|
NM_001039213.4(CEACAM16):c.662-1G>C
|
rs1568528171
|
|
NM_001042517.1(DIAPH3):c.-172G>A
|
rs2138511736
|
|
NM_001042702.5(PJVK):c.113dup (p.Lys41fs)
|
rs1559365985
|
|
NM_001042702.5(PJVK):c.122del (p.Lys41fs)
|
rs1559366000
|
|
NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile)
|
rs118203988
|
|
NM_001042702.5(PJVK):c.726del (p.Phe242fs)
|
rs1559371613
|
|
NM_001042702.5(PJVK):c.988del (p.Val330fs)
|
rs1559372640
|
|
NM_001046.3(SLC12A2):c.2930-2A>G
|
rs1581138932
|
|
NM_001046.3(SLC12A2):c.2935G>A (p.Glu979Lys)
|
rs1581138934
|
|
NM_001046.3(SLC12A2):c.2938G>A (p.Glu980Lys)
|
rs1763563407
|
|
NM_001046.3(SLC12A2):c.2941G>T (p.Asp981Tyr)
|
rs1581138944
|
|
NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr)
|
rs1581138965
|
|
NM_001079827.2(CLRN2):c.494C>A (p.Thr165Lys)
|
rs1711990645
|
|
NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter)
|
rs267606855
|
|
NM_001080516.2(GRXCR2):c.714dup (p.Gly239fs)
|
rs587777424
|
|
NM_001124758.2(SPNS2):c.c.1066_1067delinsT (p.Pro356Cysfs)
|
rs1555537637
|
|
NM_001124758.3(SPNS2):c.952TCC[1] (p.Ser319del)
|
rs749994718
|
|
NM_001127453.2(GSDME):c.1102C>G (p.Gln368Glu)
|
rs2128047712
|
|
NM_001127453.2(GSDME):c.991-21TTC[2]
|
rs727505273
|
|
NM_001128228.3(TPRN):c.1427del (p.Pro476fs)
|
rs387906219
|
|
NM_001128228.3(TPRN):c.1530del (p.Thr511fs)
|
rs387906222
|
|
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)
|
rs387906221
|
|
NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs)
|
rs387906220
|
|
NM_001135022.2(ELMOD3):c.794T>C (p.Leu265Ser)
|
rs587777040
|
|
NM_001142966.3(GREB1L):c.347C>T (p.Thr116Ile)
|
rs1333304296
|
|
NM_001142966.3(GREB1L):c.4368G>T (p.Gln1456His)
|
rs1555661490
|
|
NM_001142966.3(GREB1L):c.848A>G (p.Asn283Ser)
|
rs2033773650
|
|
NM_001142966.3(GREB1L):c.982C>T (p.Arg328Ter)
|
rs1555648043
|
|
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter)
|
rs1555214288
|
|
NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter)
|
rs183258549
|
|
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe)
|
rs1560070780
|
|
NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser)
|
rs1577876794
|
|
NM_001145319.2(PLS1):c.713T>G (p.Leu238Arg)
|
rs1577888561
|
|
NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys)
|
rs1577888985
|
|
NM_001145809.2(MYH14):c.20C>A (p.Ser7Ter)
|
rs119103279
|
|
NM_001145809.2(MYH14):c.2299C>A (p.Arg767Ser)
|
rs28940307
|
|
NM_001145809.2(MYH14):c.3049C>T (p.Leu1017Phe)
|
rs28940306
|
|
NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu)
|
rs119103281
|
|
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)
|
rs74315437
|
|
NM_001146079.2(CLDN14):c.398del (p.Met133fs)
|
rs786200885
|
|
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg)
|
rs786204841
|
|
NM_001195263.2(PDZD7):c.1207del (p.His403fs)
|
rs1554835103
|
|
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)
|
rs953422571
|
|
NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter)
|
rs1554834186
|
|
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter)
|
rs1554834161
|
|
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)
|
rs587776894
|
|
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu)
|
rs1426679303
|
|
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)
|
rs397516633
|
|
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)
|
rs148695069
|
|
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg)
|
rs1554835827
|
|
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr)
|
rs587777147
|
|
NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro)
|
rs199700840
|
|
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs)
|
rs1226171550
|
|
NM_001199799.2(ILDR1):c.1135G>T (p.Glu379Ter)
|
rs387907015
|
|
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile)
|
rs387907016
|
|
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter)
|
rs387907017
|
|
NM_001243133.2(NLRP3):c.2753G>A (p.Arg918Gln)
|
rs1553293095
|
|
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)
|
rs727503493
|
|
NM_001256317.3(TMPRSS3):c.308A>G (p.Asp103Gly)
|
rs387906915
|
|
NM_001256317.3(TMPRSS3):c.323-6G>A
|
rs374793617
|
|
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys)
|
rs137852999
|
|
NM_001257308.2(MINAR2):c.144G>A (p.Trp48Ter)
|
|
|
NM_001257308.2(MINAR2):c.393G>T (p.Lys131Asn)
|
|
|
NM_001257308.2(MINAR2):c.412_419del (p.Arg138fs)
|
|
|
NM_001286445.3(RIPOR2):c.1633_1644del (p.Gln545_Lys548del)
|
rs760676508
|
|
NM_001286445.3(RIPOR2):c.189-1G>A
|
rs875989828
|
|
NM_001292063.2(OTOG):c.5472del (p.Ala1826fs)
|
rs1029389440
|
|
NM_001292063.2(OTOG):c.6311C>T (p.Pro2104Leu)
|
rs397514607
|
|
NM_001369623.2(PI4KB):c.1346T>G (p.Val449Gly)
|
|
|
NM_001369623.2(PI4KB):c.2044G>A (p.Glu682Lys)
|
|
|
NM_001369623.2(PI4KB):c.2261T>G (p.Met754Arg)
|
|
|
NM_001369623.2(PI4KB):c.362A>G (p.Gln121Arg)
|
|
|
NM_001371333.1(DIABLO):c.377C>T (p.Ser126Leu)
|
rs387906893
|
|
NM_001376256.1(CRYM):c.941A>C (p.Lys314Thr)
|
rs104894512
|
|
NM_001376256.1(CRYM):c.945A>T (p.Ter315Tyr)
|
rs104894509
|
|
NM_001378457.1(DMXL2):c.918G>T (p.Gln306His)
|
rs2140933776
|
|
NM_001379180.1(ESRRB):c.1081_1087dup (p.Val363fs)
|
|
|
NM_001379180.1(ESRRB):c.1087G>T (p.Val363Leu)
|
rs121909111
|
|
NM_001379180.1(ESRRB):c.392C>T (p.Ala131Val)
|
rs121909110
|
|
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)
|
rs137853003
|
|
NM_001384140.1(PCDH15):c.785G>A (p.Gly262Asp)
|
rs137853002
|
|
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)
|
rs75949023
|
|
NM_001393500.2(TOMT):c.214T>C (p.Trp72Arg)
|
rs137853186
|
|
NM_001393500.2(TOMT):c.234C>G (p.Tyr78Ter)
|
rs137853188
|
|
NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala)
|
rs104894547
|
|
NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile)
|
rs28999111
|
|
NM_001614.5(ACTG1):c.353A>T (p.Lys118Met)
|
rs104894544
|
|
NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn)
|
rs267606630
|
|
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)
|
rs267606631
|
|
NM_001614.5(ACTG1):c.791C>T (p.Pro264Leu)
|
rs104894546
|
|
NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile)
|
rs28999112
|
|
NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala)
|
rs104894545
|
|
NM_001854.4(COL11A1):c.4302+2T>C
|
rs1553196233
|
|
NM_001854.4(COL11A1):c.494A>T (p.His165Leu)
|
rs2102282139
|
|
NM_001854.4(COL11A1):c.652-1G>C
|
rs1064797115
|
|
NM_001854.4(COL11A1):c.652-2A>C
|
rs747787770
|
|
NM_002039.4(GAB1):c.347G>A (p.Gly116Glu)
|
rs1553950635
|
|
NM_002160.4(TNC):c.5386A>T (p.Thr1796Ser)
|
rs431905513
|
|
NM_002241.5(KCNJ10):c.581C>A (p.Pro194His)
|
rs137853073
|
|
NM_002473.6(MYH9):c.2114G>A (p.Arg705His)
|
rs80338828
|
|
NM_002700.3(POU4F3):c.662_675del (p.Gly221fs)
|
rs1064792854
|
|
NM_002700.3(POU4F3):c.668T>C (p.Leu223Pro)
|
rs121909057
|
|
NM_002700.3(POU4F3):c.865C>T (p.Leu289Phe)
|
rs121909056
|
|
NM_002700.3(POU4F3):c.882_889del (p.Ile295fs)
|
rs398124631
|
|
NM_002700.3(POU4F3):c.977G>A (p.Arg326Lys)
|
rs398123070
|
|
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn)
|
rs180177151
|
|
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr)
|
rs180177152
|
|
NM_002764.4(PRPS1):c.337G>T (p.Ala113Ser)
|
rs587781261
|
|
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro)
|
rs869025593
|
|
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr)
|
rs180177153
|
|
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg)
|
rs180177154
|
|
NM_002906.4(RDX):c.1405dup (p.Ala469fs)
|
rs1372141763
|
|
NM_002906.4(RDX):c.1732G>A (p.Asp578Asn)
|
rs121918379
|
|
NM_002906.4(RDX):c.463C>T (p.Gln155Ter)
|
rs121918380
|
|
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter)
|
rs549556142
|
|
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter)
|
rs876661408
|
|
NM_003672.4(CDC14A):c.839-3C>G
|
rs1553191001
|
|
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly)
|
rs148737918
|
|
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln)
|
rs369245990
|
|
NM_004004.5(GJB2):c.-260C>T
|
rs886037626
|
|
NM_004004.5(GJB2):c.[134G>A;408C>A]
|
|
|
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser)
|
rs104894413
|
|
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys)
|
rs104894407
|
|
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)
|
rs104894402
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.250G>A (p.Val84Met)
|
rs104894409
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.280_284dup (p.Ala96fs)
|
rs886037625
|
|
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.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs)
|
rs886037624
|
|
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn)
|
rs28931595
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)
|
rs104894406
|
|
NM_004086.3(COCH):c.151C>T (p.Pro51Ser)
|
rs28938175
|
|
NM_004086.3(COCH):c.1625G>A (p.Cys542Tyr)
|
rs121908932
|
|
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)
|
rs121908932
|
|
NM_004086.3(COCH):c.197T>G (p.Val66Gly)
|
rs121908927
|
|
NM_004086.3(COCH):c.263G>A (p.Gly88Glu)
|
rs121908928
|
|
NM_004086.3(COCH):c.326T>A (p.Ile109Asn)
|
rs121908930
|
|
NM_004086.3(COCH):c.349T>C (p.Trp117Arg)
|
rs121908929
|
|
NM_004086.3(COCH):c.355G>A (p.Ala119Thr)
|
rs121908931
|
|
NM_004100.5(EYA4):c.1026_1027dup (p.Thr343fs)
|
rs2128707546
|
|
NM_004100.5(EYA4):c.1048_1049dup (p.Arg352fs)
|
rs2128707619
|
|
NM_004100.5(EYA4):c.1282-12T>A
|
rs2128781753
|
|
NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter)
|
rs1554275988
|
|
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)
|
rs724160020
|
|
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)
|
rs724160021
|
|
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)
|
rs863225431
|
|
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala)
|
rs863225432
|
|
NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro)
|
rs869312749
|
|
NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys)
|
rs869312750
|
|
NM_004403.3(GSDME):c.1183+4A>G
|
rs1562687295
|
|
NM_004403.3(GSDME):c.991-6C>G
|
rs1562687726
|
|
NM_004447.6(EPS8):c.88C>T (p.Gln30Ter)
|
rs587777691
|
|
NM_004568.6(SERPINB6):c.733G>T (p.Glu245Ter)
|
rs267607037
|
|
NM_004604.5(STX4):c.232+6T>C
|
|
|
NM_004700.4(KCNQ4):c.211del (p.Gln71fs)
|
rs80358272
|
|
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs)
|
rs80358271
|
|
NM_004700.4(KCNQ4):c.821T>A (p.Leu274His)
|
rs80358276
|
|
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser)
|
rs80358278
|
|
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)
|
rs28937588
|
|
NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys)
|
rs28937588
|
|
NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser)
|
rs80358279
|
|
NM_004839.4(HOMER2):c.554G>C (p.Arg185Pro)
|
rs864309524
|
|
NM_004839.4(HOMER2):c.807dup (p.Met270fs)
|
rs2051382723
|
|
NM_004999.4(MYO6):c.1325G>A (p.Cys442Tyr)
|
rs121912557
|
|
NM_004999.4(MYO6):c.2417-1758T>G
|
rs1562283089
|
|
NM_004999.4(MYO6):c.36dup (p.Thr13fs)
|
rs1562201376
|
|
NM_005012.4(ROR1):c.2207G>C (p.Arg736Thr)
|
rs1553163562
|
|
NM_005131.3(THOC1):c.547C>G (p.Leu183Val)
|
|
|
NM_005172.2(ATOH1):c.1030del (p.His344fs)
|
rs1578814396
|
|
NM_005219.5(DIAPH1):c.3624_3625del (p.Ala1210fs)
|
rs1064797096
|
|
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)
|
rs876657776
|
|
NM_005219.5(DIAPH1):c.3661+1G>T
|
rs1476157529
|
|
NM_005250.3(FOXL1):c.976_990del (p.Gly326_Leu330del)
|
|
|
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
|
rs121909305
|
|
NM_005379.4(MYO1A):c.347_349dup (p.Ser116dup)
|
rs864309476
|
|
NM_005422.2(TECTA):c.[5458C>T;5471G>A]
|
|
|
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)
|
rs121909059
|
|
NM_005422.4(TECTA):c.4856G>C (p.Cys1619Ser)
|
rs121909060
|
|
NM_005422.4(TECTA):c.5331G>A (p.Leu1777=)
|
rs1591462832
|
|
NM_005422.4(TECTA):c.5509T>C (p.Cys1837Arg)
|
rs121909061
|
|
NM_005422.4(TECTA):c.5509T>G (p.Cys1837Gly)
|
rs121909061
|
|
NM_005422.4(TECTA):c.5609A>G (p.Tyr1870Cys)
|
rs121909058
|
|
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys)
|
rs121909063
|
|
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His)
|
rs121909062
|
|
NM_005612.5(REST):c.1244G>C (p.Cys415Ser)
|
rs2109573013
|
|
NM_005612.5(REST):c.983-2247C>G
|
rs1720770872
|
|
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)
|
rs797044960
|
|
NM_005982.4(SIX1):c.397_399del (p.Glu133del)
|
rs80356460
|
|
NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr)
|
rs104893882
|
|
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met)
|
rs28937894
|
|
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr)
|
rs28937893
|
|
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)
|
rs104893883
|
|
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)
|
rs74315205
|
|
NM_006016.6(CD164):c.574C>T (p.Arg192Ter)
|
rs876661402
|
|
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp)
|
rs370965183
|
|
NM_006383.4(CIB2):c.368T>C (p.Ile123Thr)
|
rs397515412
|
|
NM_012478.4(WBP2):c.487A>C (p.Met163Leu)
|
rs1555604710
|
|
NM_012478.4(WBP2):c.671C>T (p.Ala224Val)
|
rs1555604549
|
|
NM_014332.3(SMPX):c.109G>T (p.Glu37Ter)
|
rs387906707
|
|
NM_014332.3(SMPX):c.130del (p.Glu44fs)
|
rs398122848
|
|
NM_014332.3(SMPX):c.175G>T (p.Gly59Ter)
|
rs387906706
|
|
NM_014332.3(SMPX):c.214G>T (p.Glu72Ter)
|
rs387906708
|
|
NM_014332.3(SMPX):c.99del (p.Arg34fs)
|
rs398122930
|
|
NM_015205.3(ATP11A):c.11G>A (p.Ser4Asn)
|
rs2139425153
|
|
NM_015205.3(ATP11A):c.3322_3327+2dup
|
rs2140433062
|
|
NM_015205.3(ATP11A):c.3328-494_*1355delinsAA
|
|
|
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter)
|
rs137852839
|
|
NM_015404.4(WHRN):c.2423del (p.Gly808fs)
|
rs869320674
|
|
NM_016239.4(MYO15A):c.3313G>T (p.Glu1105Ter)
|
rs121908971
|
|
NM_016239.4(MYO15A):c.3336del (p.Arg1113fs)
|
rs769884586
|
|
NM_016239.4(MYO15A):c.3685C>T (p.Gln1229Ter)
|
rs121908968
|
|
NM_016239.4(MYO15A):c.5492G>T (p.Gly1831Val)
|
rs121908972
|
|
NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr)
|
rs121908966
|
|
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe)
|
rs121908965
|
|
NM_016239.4(MYO15A):c.7801A>T (p.Lys2601Ter)
|
rs121908967
|
|
NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His)
|
rs121908969
|
|
NM_016239.4(MYO15A):c.8968-1G>C
|
rs746051220
|
|
NM_016239.4(MYO15A):c.9958_9961del (p.Asp3320fs)
|
rs1567664131
|
|
NM_016356.5(DCDC2):c.1271A>C (p.Gln424Pro)
|
rs794729665
|
|
NM_016929.5(CLIC5):c.96T>A (p.Cys32Ter)
|
rs606231308
|
|
NM_017433.5(MYO3A):c.1777-12G>A
|
rs1564568849
|
|
NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp)
|
rs1564573788
|
|
NM_017433.5(MYO3A):c.3129T>G (p.Tyr1043Ter)
|
rs193919333
|
|
NM_017433.5(MYO3A):c.716T>C (p.Leu239Pro)
|
|
|
NM_017433.5(MYO3A):c.732-2A>G
|
rs1023746725
|
|
NM_017697.4(ESRP1):c.665_683del (p.Asp222fs)
|
rs1554577339
|
|
NM_017697.4(ESRP1):c.775C>G (p.Leu259Val)
|
rs1554577402
|
|
NM_020982.4(CLDN9):c.86del (p.Leu29fs)
|
rs2072541692
|
|
NM_021116.4(ADCY1):c.3112C>T (p.Arg1038Ter)
|
rs587777497
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
NM_022124.6(CDH23):c.5663T>C (p.Phe1888Ser)
|
rs121908352
|
|
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn)
|
rs121908348
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022772.4(EPS8L2):c.1014del (p.Ser339fs)
|
rs1554952443
|
|
NM_022772.4(EPS8L2):c.738del (p.Val247fs)
|
rs1554952193
|
|
NM_024009.3(GJB3):c.421A>G (p.Ile141Val)
|
rs74315320
|
|
NM_024009.3(GJB3):c.421_423del (p.Ile141del)
|
rs770247378
|
|
NM_024022.4:c.1180_1187delinsN1234
|
|
|
NM_024678.6(NARS2):c.637G>T (p.Val213Phe)
|
rs756725793
|
|
NM_024915.4(GRHL2):c.1258-1G>A
|
rs398123006
|
|
NM_024915.4(GRHL2):c.1609dup (p.Arg537fs)
|
rs398122997
|
|
NM_025257.3(SLC44A4):c.466A>G (p.Met156Val)
|
rs1135402753
|
|
NM_031475.3(ESPN):c.1988_1991del (p.Lys663fs)
|
rs1569726455
|
|
NM_031475.3(ESPN):c.2470_2473del (p.Ser824fs)
|
rs1569770998
|
|
NM_032236.8(USP48):c.1216G>A (p.Gly406Arg)
|
|
|
NM_032236.8(USP48):c.2215_2216delinsTT (p.Thr739Leu)
|
|
|
NM_032813.5(TMTC4):c.547G>A (p.Glu183Lys)
|
|
|
NM_032813.5(TMTC4):c.575C>T (p.Ala192Val)
|
|
|
NM_033109.5(PNPT1):c.1424A>G (p.Glu475Gly)
|
rs397514599
|
|
NM_033109.5(PNPT1):c.1748dup (p.Glu584fs)
|
rs35239216
|
|
NM_033109.5(PNPT1):c.2234T>C (p.Met745Thr)
|
rs1425696642
|
|
NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser)
|
rs606231410
|
|
NM_080680.3(COL11A2):c.2423G>A (p.Gly808Glu)
|
rs121912948
|
|
NM_080680.3(COL11A2):c.2662C>A (p.Pro888Thr)
|
rs864309523
|
|
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys)
|
rs121912947
|
|
NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys)
|
rs387907002
|
|
NM_133261.3(GIPC3):c.685dup (p.Ala229fs)
|
rs748150647
|
|
NM_133261.3(GIPC3):c.767G>A (p.Gly256Asp)
|
rs387907001
|
|
NM_133261.3(GIPC3):c.785T>G (p.Leu262Arg)
|
rs387906999
|
|
NM_133261.3(GIPC3):c.903G>A (p.Trp301Ter)
|
rs387907000
|
|
NM_138691.3(TMC1):c.1253T>A (p.Met418Lys)
|
rs786201027
|
|
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg)
|
rs121908076
|
|
NM_138691.3(TMC1):c.16+1G>T
|
rs1169090943
|
|
NM_138691.3(TMC1):c.1627G>A (p.Asp543Asn)
|
|
|
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn)
|
rs121908072
|
|
NM_138691.3(TMC1):c.1714G>C (p.Asp572His)
|
rs121908072
|
|
NM_139319.3(SLC17A8):c.616dup (p.Met206fs)
|
rs2135999616
|
|
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val)
|
rs121918339
|
|
NM_144498.4(OSBPL2):c.141_142del (p.Arg50fs)
|
rs786205881
|
|
NM_144498.4(OSBPL2):c.156_157del (p.Gln53fs)
|
rs786205880
|
|
NM_144672.4(OTOA):c.1320+2T>C
|
rs1567381218
|
|
NM_147196.3(TMIE):c.122_125del (p.Pro41fs)
|
rs876661301
|
|
NM_147196.3(TMIE):c.170G>A (p.Trp57Ter)
|
rs267607120
|
|
NM_147196.3(TMIE):c.94-2_98delinsC
|
rs876657371
|
|
NM_153002.3(GPR156):c.1863dup (p.His622fs)
|
|
|
NM_153002.3(GPR156):c.600G>A (p.Thr200=)
|
|
|
NM_153676.4(USH1C):c.1019+5G>C
|
rs1592002789
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
NM_153700.2(STRC):c.2171_2174del (p.Val724fs)
|
rs786200883
|
|
NM_153700.2(STRC):c.3156dup (p.Cys1053fs)
|
rs786200882
|
|
NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg)
|
rs202138002
|
|
NM_170682.4(P2RX2):c.178G>T (p.Val60Leu)
|
rs587777692
|
|
NM_173641.2(EPHA10):c.-81_-73delTGGGGTCTGinsAGC
|
|
|
NM_174916.3(UBR1):c.1440-1G>A
|
rs1596118528
|
|
NM_174916.3(UBR1):c.2254+2T>C
|
rs2141312913
|
|
NM_174916.3(UBR1):c.2839+5G>A
|
rs1596106023
|
|
NM_174916.3(UBR1):c.407A>G (p.His136Arg)
|
rs119477054
|
|
NM_177398.4(LMX1A):c.290G>C (p.Cys97Ser)
|
rs1571177726
|
|
NM_177398.4(LMX1A):c.721G>C (p.Val241Leu)
|
rs1571147567
|
|
NM_178335.3(CCDC50):c.1394_1401dup (p.Phe468fs)
|
rs2108677075
|
|
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer)
|
rs779841884
|
|
NM_182548.4(LHFPL5):c.649+1del
|
rs1581972457
|
|
NM_194248.3(OTOF):c.1651del (p.Glu551fs)
|
rs80356587
|
|
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter)
|
rs397515591
|
|
NM_194248.3(OTOF):c.2866+1G>A
|
rs2148047884
|
|
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro)
|
rs80356596
|
|
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter)
|
rs80356600
|
|
NM_194248.3(OTOF):c.4960+1G>C
|
rs80356602
|
|
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala)
|
rs28937591
|
|
NM_194248.3(OTOF):c.766-2A>G
|
rs80356584
|
|
NM_194323.3(OTOF):c.3659C>G (p.Pro1220Arg)
|
rs121908598
|
|
NM_198999.3(SLC26A5):c.209G>A (p.Trp70Ter)
|
rs431905518
|
|
NM_198999.3(SLC26A5):c.390A>C (p.Arg130Ser)
|
rs431905517
|
|
NR_029512.1(MIR96):n.13G>A
|
rs587776522
|
|
NR_029512.1(MIR96):n.14C>A
|
rs587776523
|
|
del(GJB6-D13S1830)
|
|
|
m.1095T>C
|
rs267606618
|
|
m.12201T>C
|
rs387906733
|
|
m.1291T>C
|
rs267606620
|
|
m.3388C>A
|
rs387906730
|
|
m.4295A>G
|
rs121434467
|
|
m.7445A>C
|
rs199474818
|
|
m.7510T>C
|
rs199474820
|
|
m.7511T>C
|
rs199474821
|
|
m.961T>G
|
rs3888511
|
|
m.961delTinsC(2_7)
|
rs1556422499
|
|