NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
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_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser)
|
rs138558321
|
0.00238
|
NM_000441.2(SLC26A4):c.*239C>T
|
rs113516368
|
0.00237
|
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)
|
rs2920791
|
0.00174
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala)
|
rs146511800
|
0.00094
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_001292063.2(OTOG):c.385G>A (p.Val129Met)
|
rs552304627
|
0.00081
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_001354587.1(ANKRD36):c.2479-1G>A
|
rs200852589
|
0.00076
|
NM_145199.3(LIPT1):c.369del (p.Lys123fs)
|
rs552120721
|
0.00071
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_005797.4(MPZL2):c.72del (p.Ile24fs)
|
rs752672077
|
0.00069
|
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr)
|
rs145369252
|
0.00068
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter)
|
rs200484521
|
0.00066
|
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys)
|
rs200242497
|
0.00056
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_138691.3(TMC1):c.1763+3A>G
|
rs370898981
|
0.00056
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
|
rs143797113
|
0.00046
|
NM_001378609.3(OTOGL):c.6019+5G>A
|
rs368712763
|
0.00046
|
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter)
|
rs576724182
|
0.00041
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)
|
rs201076440
|
0.00039
|
NM_144672.4(OTOA):c.2120C>T (p.Ala707Val)
|
rs145160241
|
0.00038
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_173477.5(USH1G):c.310A>G (p.Met104Val)
|
rs149529031
|
0.00031
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00027
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
|
rs199766465
|
0.00025
|
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln)
|
rs117071200
|
0.00024
|
NM_005797.4(MPZL2):c.544C>T (p.Arg182Ter)
|
rs200462584
|
0.00022
|
NM_017433.5(MYO3A):c.1463G>A (p.Gly488Glu)
|
rs145970949
|
0.00022
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter)
|
rs138593211
|
0.00020
|
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_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)
|
rs144948296
|
0.00018
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)
|
rs141774369
|
0.00014
|
NM_006005.3(WFS1):c.2054G>A (p.Arg685His)
|
rs142668478
|
0.00014
|
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)
|
rs201650281
|
0.00013
|
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)
|
rs111033330
|
0.00013
|
NM_012188.5(FOXI1):c.92A>G (p.Tyr31Cys)
|
rs777573595
|
0.00012
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys)
|
rs569193097
|
0.00009
|
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)
|
rs139805921
|
0.00009
|
NM_001378609.3(OTOGL):c.236-2A>G
|
rs766564988
|
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_016239.4(MYO15A):c.6764+2T>A
|
rs763975867
|
0.00009
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00009
|
NM_194248.3(OTOF):c.4227+1G>T
|
rs397515601
|
0.00009
|
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)
|
rs137853074
|
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_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)
|
rs376469502
|
0.00008
|
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp)
|
rs397517344
|
0.00008
|
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)
|
rs374698153
|
0.00008
|
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs)
|
rs751369871
|
0.00007
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00006
|
NM_000441.2(SLC26A4):c.-4+5G>A
|
rs727503425
|
0.00006
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00006
|
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)
|
rs776962899
|
0.00006
|
NM_001384474.1(LOXHD1):c.3061+1G>A
|
rs537227442
|
0.00006
|
NM_001384474.1(LOXHD1):c.4376-2A>G
|
rs886043616
|
0.00006
|
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)
|
rs763915229
|
0.00006
|
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)
|
rs199883710
|
0.00006
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys)
|
rs756541797
|
0.00006
|
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys)
|
rs141585847
|
0.00006
|
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)
|
rs749136456
|
0.00006
|
NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser)
|
rs371730430
|
0.00006
|
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)
|
rs780987516
|
0.00006
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
NM_022124.6(CDH23):c.6512G>A (p.Arg2171His)
|
rs531513127
|
0.00006
|
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
|
rs121908073
|
0.00006
|
NM_138691.3(TMC1):c.1114G>A (p.Val372Met)
|
rs367924428
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_153700.2(STRC):c.4219-1G>A
|
rs748854592
|
0.00006
|
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter)
|
rs147717802
|
0.00006
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_001854.4(COL11A1):c.1245+1G>A
|
rs766849561
|
0.00005
|
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)
|
rs774265764
|
0.00005
|
NM_016239.4(MYO15A):c.6046+1G>A
|
rs201978571
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516
|
0.00004
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214
|
0.00004
|
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)
|
rs111033215
|
0.00004
|
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)
|
rs111033220
|
0.00004
|
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)
|
rs766206507
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_001031679.3(MSRB3):c.77-2A>G
|
rs145704693
|
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_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)
|
rs200090033
|
0.00004
|
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met)
|
rs772040483
|
0.00004
|
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter)
|
rs772430523
|
0.00004
|
NM_001378609.3(OTOGL):c.3213+1G>A
|
rs370730786
|
0.00004
|
NM_001378609.3(OTOGL):c.63del (p.Leu22fs)
|
rs376104832
|
0.00004
|
NM_001384474.1(LOXHD1):c.2314A>T (p.Ile772Phe)
|
rs1289895910
|
0.00004
|
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys)
|
rs561122654
|
0.00004
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
|
rs767178508
|
0.00004
|
NM_004004.6(GJB2):c.533T>C (p.Val178Ala)
|
rs568612627
|
0.00004
|
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)
|
rs184474885
|
0.00004
|
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys)
|
rs71532863
|
0.00004
|
NM_006005.3(WFS1):c.2293del (p.Cys765fs)
|
rs1381011685
|
0.00004
|
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)
|
rs1270302810
|
0.00004
|
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln)
|
rs368053088
|
0.00004
|
NM_016239.4(MYO15A):c.9517+2T>C
|
rs1322423998
|
0.00004
|
NM_133261.3(GIPC3):c.662C>T (p.Thr221Ile)
|
rs761543680
|
0.00004
|
NM_153676.4(USH1C):c.760-1G>T
|
rs1187887456
|
0.00004
|
NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu)
|
rs371994634
|
0.00004
|
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)
|
rs202086317
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys)
|
rs781916427
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_000266.4(NDP):c.269G>A (p.Arg90His)
|
rs104894867
|
0.00003
|
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)
|
rs201660407
|
0.00003
|
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)
|
rs747636919
|
0.00003
|
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)
|
rs121908363
|
0.00003
|
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)
|
rs757820624
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_001110219.3(GJB6):c.322C>T (p.Arg108Ter)
|
rs772862268
|
0.00003
|
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)
|
rs781214034
|
0.00003
|
NM_001146079.2(CLDN14):c.89G>A (p.Trp30Ter)
|
rs1273842424
|
0.00003
|
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter)
|
rs979094623
|
0.00003
|
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter)
|
rs530874854
|
0.00003
|
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His)
|
rs754786373
|
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_001384474.1(LOXHD1):c.4212+5G>A
|
rs752553552
|
0.00003
|
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)
|
rs886044666
|
0.00003
|
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)
|
rs775267638
|
0.00003
|
NM_001384474.1(LOXHD1):c.760-2del
|
rs770408532
|
0.00003
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
0.00003
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)
|
rs397515411
|
0.00003
|
NM_006383.4(CIB2):c.300_309del (p.Glu100fs)
|
rs765741202
|
0.00003
|
NM_015971.4(MRPS7):c.536G>A (p.Arg179His)
|
rs752619610
|
0.00003
|
NM_016239.4(MYO15A):c.1651G>A (p.Ala551Thr)
|
rs747175448
|
0.00003
|
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)
|
rs771720649
|
0.00003
|
NM_016356.5(DCDC2):c.829A>T (p.Lys277Ter)
|
rs775868003
|
0.00003
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00003
|
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)
|
rs773224617
|
0.00003
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)
|
rs778909195
|
0.00003
|
NM_194248.3(OTOF):c.4799+1G>A
|
rs200147906
|
0.00003
|
NM_194248.3(OTOF):c.76C>T (p.Arg26Ter)
|
rs145208539
|
0.00003
|
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)
|
rs782539587
|
0.00002
|
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)
|
rs781989117
|
0.00002
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390
|
0.00002
|
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)
|
rs782787126
|
0.00002
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)
|
rs747656448
|
0.00002
|
NM_000260.4(MYO7A):c.722G>A (p.Arg241His)
|
rs111033284
|
0.00002
|
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)
|
rs147952620
|
0.00002
|
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)
|
rs763006761
|
0.00002
|
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)
|
rs759360026
|
0.00002
|
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys)
|
rs750421791
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys)
|
rs749798053
|
0.00002
|
NM_001256317.3(TMPRSS3):c.271C>T (p.Arg91Ter)
|
rs199903164
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)
|
rs779165268
|
0.00002
|
NM_001384474.1(LOXHD1):c.4212+1G>A
|
rs889110926
|
0.00002
|
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)
|
rs111033203
|
0.00002
|
NM_004004.6(GJB2):c.298del (p.His100fs)
|
rs775828835
|
0.00002
|
NM_004004.6(GJB2):c.299A>T (p.His100Leu)
|
rs1422767764
|
0.00002
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
0.00002
|
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)
|
rs786204597
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004086.3(COCH):c.271C>T (p.Arg91Ter)
|
rs540895576
|
0.00002
|
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser)
|
rs724160019
|
0.00002
|
NM_004447.6(EPS8):c.205-8A>G
|
rs180899529
|
0.00002
|
NM_005908.4(MANBA):c.2158-2A>G
|
rs772852668
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)
|
rs748868741
|
0.00002
|
NM_016356.5(DCDC2):c.942del (p.Gly315fs)
|
rs1554144869
|
0.00002
|
NM_017433.5(MYO3A):c.2783C>G (p.Ser928Ter)
|
rs778110879
|
0.00002
|
NM_018006.5(TRMU):c.1102-3C>G
|
rs753039116
|
0.00002
|
NM_018006.5(TRMU):c.249-2A>G
|
rs768299416
|
0.00002
|
NM_018006.5(TRMU):c.96_97del (p.Phe35fs)
|
rs762738569
|
0.00002
|
NM_018006.5(TRMU):c.994C>T (p.Arg332Ter)
|
rs759790041
|
0.00002
|
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu)
|
rs778251205
|
0.00002
|
NM_022124.6(CDH23):c.1515-12G>A
|
rs369396703
|
0.00002
|
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)
|
rs770665588
|
0.00002
|
NM_031475.3(ESPN):c.1464+1G>A
|
rs752649606
|
0.00002
|
NM_057176.3(BSND):c.35T>C (p.Ile12Thr)
|
rs121908144
|
0.00002
|
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)
|
rs911722283
|
0.00002
|
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)
|
rs28942097
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_153676.4(USH1C):c.248+1G>A
|
rs1482487617
|
0.00002
|
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)
|
rs111033405
|
0.00002
|
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)
|
rs781688103
|
0.00002
|
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
|
rs397516281
|
0.00001
|
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)
|
rs1555067667
|
0.00001
|
NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn)
|
rs782313585
|
0.00001
|
NM_000260.4(MYO7A):c.1555-8C>G
|
rs1057517774
|
0.00001
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)
|
rs781951909
|
0.00001
|
NM_000260.4(MYO7A):c.1935+1G>C
|
rs1343207038
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.224dup (p.Asp75fs)
|
rs1224819887
|
0.00001
|
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)
|
rs201892914
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.285+1G>C
|
rs782661097
|
0.00001
|
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)
|
rs781988557
|
0.00001
|
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter)
|
rs782131913
|
0.00001
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635
|
0.00001
|
NM_000260.4(MYO7A):c.3924+1G>C
|
rs1226046110
|
0.00001
|
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys)
|
rs782808261
|
0.00001
|
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
NM_000260.4(MYO7A):c.4569-1G>A
|
rs775792432
|
0.00001
|
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)
|
rs1199012623
|
0.00001
|
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)
|
rs1472566324
|
0.00001
|
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)
|
rs111033174
|
0.00001
|
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)
|
rs111033182
|
0.00001
|
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)
|
rs1385324903
|
0.00001
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=)
|
rs1453053718
|
0.00001
|
NM_000260.4(MYO7A):c.5857-2A>G
|
rs1555107286
|
0.00001
|
NM_000260.4(MYO7A):c.5945-1G>A
|
rs1268984037
|
0.00001
|
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter)
|
rs773844428
|
0.00001
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610
|
0.00001
|
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter)
|
rs747095250
|
0.00001
|
NM_000441.2(SLC26A4):c.1002G>T (p.Gly334=)
|
rs1791494228
|
0.00001
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)
|
rs1293971731
|
0.00001
|
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)
|
rs142498437
|
0.00001
|
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)
|
rs397516416
|
0.00001
|
NM_000441.2(SLC26A4):c.1615-2A>G
|
rs758823761
|
0.00001
|
NM_000441.2(SLC26A4):c.1708-1G>A
|
rs759414956
|
0.00001
|
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)
|
rs397516424
|
0.00001
|
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
|
rs200455203
|
0.00001
|
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn)
|
rs777641484
|
0.00001
|
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)
|
rs749013429
|
0.00001
|
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)
|
rs1060499808
|
0.00001
|
NM_000441.2(SLC26A4):c.2106del (p.Lys702fs)
|
rs1374832271
|
0.00001
|
NM_000441.2(SLC26A4):c.2319+1G>A
|
rs542079779
|
0.00001
|
NM_000441.2(SLC26A4):c.2320-2A>G
|
rs1275029034
|
0.00001
|
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro)
|
rs1057518810
|
0.00001
|
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val)
|
rs1562822565
|
0.00001
|
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile)
|
rs1481765326
|
0.00001
|
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)
|
rs1205712508
|
0.00001
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00001
|
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)
|
rs539699299
|
0.00001
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly)
|
rs387907088
|
0.00001
|
NM_001038603.3(MARVELD2):c.1147-2A>G
|
rs763062791
|
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.2176C>T (p.Arg726Ter)
|
rs375857763
|
0.00001
|
NM_001039213.4(CEACAM16):c.1097C>T (p.Pro366Leu)
|
rs762367899
|
0.00001
|
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)
|
rs367688416
|
0.00001
|
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)
|
rs774844858
|
0.00001
|
NM_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter)
|
rs769983282
|
0.00001
|
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter)
|
rs267607135
|
0.00001
|
NM_001128840.3(CACNA1D):c.1116+2T>C
|
rs747136766
|
0.00001
|
NM_001135022.2(ELMOD3):c.512A>G (p.His171Arg)
|
rs1280785617
|
0.00001
|
NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys)
|
rs367588704
|
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_001195263.2(PDZD7):c.928+1G>A
|
rs778565403
|
0.00001
|
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)
|
rs760474458
|
0.00001
|
NM_001199107.2(TBC1D24):c.965+2T>C
|
rs755370981
|
0.00001
|
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter)
|
rs775062249
|
0.00001
|
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs)
|
rs397517376
|
0.00001
|
NM_001256317.3(TMPRSS3):c.581G>T (p.Cys194Phe)
|
rs1333651774
|
0.00001
|
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His)
|
rs137853000
|
0.00001
|
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg)
|
rs372526764
|
0.00001
|
NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met)
|
rs768140716
|
0.00001
|
NM_001256317.3(TMPRSS3):c.767C>T (p.Ala256Val)
|
rs1306292205
|
0.00001
|
NM_001292063.2(OTOG):c.3682+1G>A
|
rs554063575
|
0.00001
|
NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg)
|
rs534494159
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001378609.3(OTOGL):c.1890-1G>T
|
rs777911261
|
0.00001
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
NM_001384140.1(PCDH15):c.3806+2T>C
|
rs756692340
|
0.00001
|
NM_001384140.1(PCDH15):c.3807-2A>G
|
rs1328440878
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)
|
rs1384677442
|
0.00001
|
NM_001384474.1(LOXHD1):c.246-2A>G
|
rs763062406
|
0.00001
|
NM_001384474.1(LOXHD1):c.4531-2A>G
|
rs951333133
|
0.00001
|
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)
|
rs1598914701
|
0.00001
|
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter)
|
rs960741408
|
0.00001
|
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)
|
rs961865375
|
0.00001
|
NM_001384474.1(LOXHD1):c.5085+1G>T
|
rs1418245706
|
0.00001
|
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu)
|
rs1442825433
|
0.00001
|
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe)
|
rs533568822
|
0.00001
|
NM_001393500.2(TOMT):c.73C>T (p.Arg25Ter)
|
rs1298804148
|
0.00001
|
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp)
|
rs778379327
|
0.00001
|
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)
|
rs138943405
|
0.00001
|
NM_002906.4(RDX):c.1135C>T (p.Arg379Ter)
|
rs772146113
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)
|
rs72561723
|
0.00001
|
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)
|
rs111033451
|
0.00001
|
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
|
rs28931593
|
0.00001
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
0.00001
|
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)
|
rs727504302
|
0.00001
|
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)
|
rs781534323
|
0.00001
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
|
rs397516873
|
0.00001
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)
|
rs786204690
|
0.00001
|
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)
|
rs1131691709
|
0.00001
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr)
|
rs1268045311
|
0.00001
|
NM_004086.3(COCH):c.538C>T (p.Arg180Ter)
|
rs559481815
|
0.00001
|
NM_004100.5(EYA4):c.1109G>A (p.Arg370His)
|
rs143936434
|
0.00001
|
NM_004100.5(EYA4):c.1739-1G>A
|
rs797045088
|
0.00001
|
NM_004208.4(AIFM1):c.1492G>A (p.Val498Met)
|
rs724160023
|
0.00001
|
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met)
|
rs724160017
|
0.00001
|
NM_004525.3(LRP2):c.11798A>G (p.Tyr3933Cys)
|
rs1474741555
|
0.00001
|
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)
|
rs28939710
|
0.00001
|
NM_005219.5(DIAPH1):c.145-1G>A
|
rs763349669
|
0.00001
|
NM_005422.4(TECTA):c.2367G>A (p.Lys789=)
|
rs1448260319
|
0.00001
|
NM_005422.4(TECTA):c.3107G>A (p.Cys1036Tyr)
|
rs772606235
|
0.00001
|
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)
|
rs140236996
|
0.00001
|
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys)
|
rs1455568421
|
0.00001
|
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)
|
rs1415687857
|
0.00001
|
NM_005709.4(USH1C):c.1211-3_1232del
|
rs1246699436
|
0.00001
|
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter)
|
rs761320763
|
0.00001
|
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter)
|
rs1335076773
|
0.00001
|
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu)
|
rs370564476
|
0.00001
|
NM_012208.4(HARS2):c.413G>A (p.Arg138His)
|
rs1432653451
|
0.00001
|
NM_016239.4(MYO15A):c.10491+2T>C
|
rs1390498839
|
0.00001
|
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met)
|
rs773648511
|
0.00001
|
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter)
|
rs763075073
|
0.00001
|
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter)
|
rs781546107
|
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.4898T>C (p.Ile1633Thr)
|
rs576399072
|
0.00001
|
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys)
|
rs371352836
|
0.00001
|
NM_016239.4(MYO15A):c.6841G>A (p.Asp2281Asn)
|
rs371717411
|
0.00001
|
NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His)
|
rs773476384
|
0.00001
|
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs)
|
rs757070287
|
0.00001
|
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter)
|
rs759523751
|
0.00001
|
NM_017433.5(MYO3A):c.3003del (p.Tyr1002fs)
|
rs746055369
|
0.00001
|
NM_018006.5(TRMU):c.803del (p.Ala268fs)
|
rs745338284
|
0.00001
|
NM_018006.5(TRMU):c.83-2A>G
|
rs747853875
|
0.00001
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)
|
rs1057519500
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.6533T>A (p.Ile2178Asn)
|
rs772953914
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser)
|
rs780917129
|
0.00001
|
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)
|
rs936479651
|
0.00001
|
NM_022124.6(CDH23):c.8146del (p.Asp2716fs)
|
rs1564804195
|
0.00001
|
NM_024009.3(GJB3):c.703C>T (p.Arg235Ter)
|
rs144964568
|
0.00001
|
NM_031475.3(ESPN):c.2524C>T (p.Arg842Ter)
|
rs1644131579
|
0.00001
|
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu)
|
rs765574676
|
0.00001
|
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)
|
rs747516133
|
0.00001
|
NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr)
|
rs1348505504
|
0.00001
|
NM_138691.3(TMC1):c.1334G>A (p.Arg445His)
|
rs760532554
|
0.00001
|
NM_138691.3(TMC1):c.1810C>T (p.Arg604Ter)
|
rs777777359
|
0.00001
|
NM_138691.3(TMC1):c.564C>A (p.Tyr188Ter)
|
rs1178631956
|
0.00001
|
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr)
|
rs747645756
|
0.00001
|
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp)
|
rs200656442
|
0.00001
|
NM_147196.3(TMIE):c.241C>T (p.Arg81Cys)
|
rs28942096
|
0.00001
|
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter)
|
rs1278026061
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153676.4(USH1C):c.104+1G>A
|
rs1287021691
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.2281-2A>G
|
rs921755529
|
0.00001
|
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)
|
rs758555088
|
0.00001
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
0.00001
|
NM_153676.4(USH1C):c.658C>T (p.Arg220Ter)
|
rs766327614
|
0.00001
|
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)
|
rs1223763703
|
0.00001
|
NM_153676.4(USH1C):c.877-1G>A
|
rs771279169
|
0.00001
|
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)
|
rs727503443
|
0.00001
|
NM_153700.2(STRC):c.4510del (p.Glu1504fs)
|
rs759816064
|
0.00001
|
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter)
|
rs756606635
|
0.00001
|
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)
|
rs201866631
|
0.00001
|
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val)
|
rs762876554
|
0.00001
|
NM_194248.3(OTOF):c.2719C>T (p.Gln907Ter)
|
rs1249447410
|
0.00001
|
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys)
|
rs397515605
|
0.00001
|
NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp)
|
rs1172714485
|
0.00001
|
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys)
|
rs142111099
|
0.00001
|
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)
|
rs111033349
|
0.00001
|
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp)
|
rs530821443
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
46;XY;t(5;7)(q14.3;q21.3)dn
|
|
|
GRCh37/hg19 12p12.3(chr12:15800060-15865927)
|
|
|
GRCh37/hg19 16p13.3(chr16:6042083-6237086)
|
|
|
Multiple alleles
|
|
|
NC_000001.10:g.(103388956_103400026)_(104094395_?)del
|
|
|
NC_000002.11:g.(26726714_26739285)_(26741978_26750699)del
|
|
|
NC_000010.11:g.53995649_54022892del
|
|
|
NC_000015.10:g.(?_43906612)_(43906674_)?del
|
|
|
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
|
|
|
NC_000015.9:g.(43893213_43893593)_(43897598_43900060)del
|
|
|
NC_000015.9:g.(?_43891760)_(43897598_43900060)del
|
|
|
NC_000016.10:g.21730837_21730930del
|
rs2141723087
|
|
NC_000018.9:g.(44098220_44102063)_(44102273_44104428)del
|
|
|
NC_012920.1:m.15246G>A
|
rs1057516075
|
|
NC_012920.1:m.1555A>G
|
rs267606617
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000260.4(MYO7A):c.1046C>A (p.Ser349Tyr)
|
rs782432573
|
|
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094
|
|
NM_000260.4(MYO7A):c.117_132+6del
|
rs1555051567
|
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
NM_000260.4(MYO7A):c.1200+1G>A
|
rs397516283
|
|
NM_000260.4(MYO7A):c.1211G>A (p.Gly404Glu)
|
rs973746837
|
|
NM_000260.4(MYO7A):c.133-2A>C
|
rs782064437
|
|
NM_000260.4(MYO7A):c.133del
|
rs1591224147
|
|
NM_000260.4(MYO7A):c.1343+1G>A
|
rs914189193
|
|
NM_000260.4(MYO7A):c.1691-2A>G
|
rs1555072299
|
|
NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs)
|
rs2135345560
|
|
NM_000260.4(MYO7A):c.1798-1G>A
|
rs1555076948
|
|
NM_000260.4(MYO7A):c.1798-1G>T
|
rs1555076948
|
|
NM_000260.4(MYO7A):c.18+2T>A
|
rs564622720
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.19-1G>A
|
rs111033426
|
|
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)
|
rs878853236
|
|
NM_000260.4(MYO7A):c.2187+1G>T
|
rs111033290
|
|
NM_000260.4(MYO7A):c.2221G>A (p.Asp741Asn)
|
|
|
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs)
|
rs1555080760
|
|
NM_000260.4(MYO7A):c.2283-2_2293del
|
rs1555082041
|
|
NM_000260.4(MYO7A):c.2339del (p.Gly780fs)
|
rs1565402473
|
|
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter)
|
rs1555082145
|
|
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser)
|
rs781790246
|
|
NM_000260.4(MYO7A):c.2764AAG[1] (p.Lys923del)
|
rs1955175992
|
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032
|
|
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)
|
rs782281371
|
|
NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs)
|
rs1955319492
|
|
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer)
|
rs1555061466
|
|
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)
|
rs782468194
|
|
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter)
|
rs1555085978
|
|
NM_000260.4(MYO7A):c.3504-2A>G
|
rs1555090168
|
|
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)
|
rs1253943370
|
|
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro)
|
rs1565430886
|
|
NM_000260.4(MYO7A):c.3612_3615del (p.Ser1205fs)
|
|
|
NM_000260.4(MYO7A):c.3631-1G>C
|
rs1555090885
|
|
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)
|
rs1057517857
|
|
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg)
|
rs750358148
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347
|
|
NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs)
|
rs1955999847
|
|
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs)
|
rs1555091636
|
|
NM_000260.4(MYO7A):c.3886del (p.Arg1296fs)
|
rs2135563245
|
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
|
NM_000260.4(MYO7A):c.3893G>A (p.Gly1298Glu)
|
|
|
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs)
|
rs1555092993
|
|
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs)
|
rs1555093028
|
|
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs)
|
rs1480697910
|
|
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)
|
rs1555095933
|
|
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs)
|
rs1555096070
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000260.4(MYO7A):c.4528G>A (p.Glu1510Lys)
|
|
|
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs)
|
rs1555100200
|
|
NM_000260.4(MYO7A):c.4635G>A (p.Trp1545Ter)
|
rs918353878
|
|
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)
|
rs1555100273
|
|
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs)
|
rs1555100315
|
|
NM_000260.4(MYO7A):c.471-1G>A
|
rs548172627
|
|
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter)
|
rs1052030
|
|
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter)
|
rs397516315
|
|
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs)
|
rs1555100603
|
|
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs)
|
rs1555100625
|
|
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs)
|
rs1188637368
|
|
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs)
|
rs1555101858
|
|
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser)
|
rs1201586094
|
|
NM_000260.4(MYO7A):c.496del (p.Glu166fs)
|
rs111033448
|
|
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs)
|
rs1555102041
|
|
NM_000260.4(MYO7A):c.5043+1G>T
|
rs1555102147
|
|
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter)
|
rs530520654
|
|
NM_000260.4(MYO7A):c.5168+2T>C
|
rs1192104600
|
|
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs)
|
rs1555103458
|
|
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs)
|
rs1555103532
|
|
NM_000260.4(MYO7A):c.5326+3A>G
|
rs1565469959
|
|
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)
|
rs751242455
|
|
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys)
|
rs377267777
|
|
NM_000260.4(MYO7A):c.5481-1G>C
|
rs1555105118
|
|
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs)
|
rs1555105135
|
|
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg)
|
rs746667217
|
|
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs)
|
rs1555105202
|
|
NM_000260.4(MYO7A):c.5552T>C (p.Leu1851Pro)
|
|
|
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs)
|
rs1555106609
|
|
NM_000260.4(MYO7A):c.580C>T (p.Pro194Ser)
|
|
|
NM_000260.4(MYO7A):c.5856+5G>C
|
rs1386887007
|
|
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs)
|
rs1555107555
|
|
NM_000260.4(MYO7A):c.6051+1G>A
|
rs1403288739
|
|
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)
|
rs1060499801
|
|
NM_000260.4(MYO7A):c.6237+1G>A
|
rs1338605788
|
|
NM_000260.4(MYO7A):c.6238-2A>C
|
rs1555109612
|
|
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg)
|
rs1223784415
|
|
NM_000260.4(MYO7A):c.6491del (p.Asn2164fs)
|
rs2135802675
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
|
rs782252317
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491
|
|
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)
|
rs104894922
|
|
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
|
|
|
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr)
|
rs397516335
|
|
NM_000307.5(POU3F4):c.767T>C (p.Leu256Pro)
|
|
|
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)
|
rs1060499806
|
|
NM_000307.5(POU3F4):c.923T>A (p.Ile308Asn)
|
|
|
NM_000307.5(POU3F4):c.968G>A (p.Arg323His)
|
rs727505246
|
|
NM_000307.5(POU3F4):c.983A>G (p.Asn328Ser)
|
|
|
NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly)
|
rs926775037
|
|
NM_000435.3(NOTCH3):c.2129A>G (p.Tyr710Cys)
|
|
|
NM_000435.3(NOTCH3):c.709G>T (p.Val237Leu)
|
|
|
NM_000441.2(SLC26A4):c.1001+4A>G
|
rs1262298247
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
NM_000441.2(SLC26A4):c.1002-2A>G
|
|
|
NM_000441.2(SLC26A4):c.1002-4C>G
|
rs2129315781
|
|
NM_000441.2(SLC26A4):c.1002del
|
|
|
NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val)
|
rs111033212
|
|
NM_000441.2(SLC26A4):c.107A>C (p.His36Pro)
|
|
|
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter)
|
rs121908361
|
|
NM_000441.2(SLC26A4):c.1150-1G>T
|
rs1791525285
|
|
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val)
|
rs777333979
|
|
NM_000441.2(SLC26A4):c.1172G>A (p.Ser391Asn)
|
|
|
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)
|
rs201562855
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)
|
rs397516414
|
|
NM_000441.2(SLC26A4):c.1216_1218delinsC (p.Ala406fs)
|
|
|
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)
|
rs111033305
|
|
NM_000441.2(SLC26A4):c.1226G>T (p.Arg409Leu)
|
|
|
NM_000441.2(SLC26A4):c.1229C>A (p.Thr410Lys)
|
rs111033220
|
|
NM_000441.2(SLC26A4):c.1261C>T (p.Gln421Ter)
|
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
NM_000441.2(SLC26A4):c.1263+1G>T
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1264-3C>G
|
rs1562835391
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs)
|
rs1584292992
|
|
NM_000441.2(SLC26A4):c.1325T>C (p.Leu442Pro)
|
rs2129316904
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp)
|
rs747076316
|
|
NM_000441.2(SLC26A4):c.1343_1355dup (p.Val453fs)
|
rs1791686622
|
|
NM_000441.2(SLC26A4):c.1370A>T (p.Asn457Ile)
|
|
|
NM_000441.2(SLC26A4):c.1371C>G (p.Asn457Lys)
|
rs1554359670
|
|
NM_000441.2(SLC26A4):c.1377del (p.Met461fs)
|
|
|
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter)
|
rs1554359693
|
|
NM_000441.2(SLC26A4):c.1437+2T>G
|
rs397516418
|
|
NM_000441.2(SLC26A4):c.1449del (p.Phe484fs)
|
|
|
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
|
rs786204601
|
|
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)
|
rs727505088
|
|
NM_000441.2(SLC26A4):c.1549del (p.Ser517fs)
|
|
|
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)
|
rs1562817529
|
|
NM_000441.2(SLC26A4):c.1552T>G (p.Trp518Gly)
|
rs2129317522
|
|
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)
|
rs1554360358
|
|
NM_000441.2(SLC26A4):c.1586T>C (p.Ile529Thr)
|
rs786204739
|
|
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)
|
rs786204739
|
|
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile)
|
rs1057516243
|
|
NM_000441.2(SLC26A4):c.1614+1del
|
|
|
NM_000441.2(SLC26A4):c.1615-1G>T
|
|
|
NM_000441.2(SLC26A4):c.1615A>G (p.Ile539Val)
|
|
|
NM_000441.2(SLC26A4):c.1629del (p.Gly544fs)
|
|
|
NM_000441.2(SLC26A4):c.1656T>G (p.Ser552Arg)
|
rs2129317902
|
|
NM_000441.2(SLC26A4):c.1657C>T (p.Pro553Ser)
|
rs2129317904
|
|
NM_000441.2(SLC26A4):c.1673del (p.Asn558fs)
|
|
|
NM_000441.2(SLC26A4):c.1693T>G (p.Cys565Gly)
|
rs767255075
|
|
NM_000441.2(SLC26A4):c.1707+2T>C
|
rs1554360707
|
|
NM_000441.2(SLC26A4):c.1707+4_1707+7del
|
|
|
NM_000441.2(SLC26A4):c.1708-1G>T
|
rs759414956
|
|
NM_000441.2(SLC26A4):c.1708-27_1708-11del
|
rs1554360816
|
|
NM_000441.2(SLC26A4):c.1717G>C (p.Asp573His)
|
|
|
NM_000441.2(SLC26A4):c.1717G>T (p.Asp573Tyr)
|
|
|
NM_000441.2(SLC26A4):c.1730T>G (p.Val577Gly)
|
|
|
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
|
|
|
NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter)
|
|
|
NM_000441.2(SLC26A4):c.1905_1906del (p.Glu635fs)
|
|
|
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
|
rs2129318281
|
|
NM_000441.2(SLC26A4):c.2026del (p.Leu676fs)
|
rs2129318299
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2035-2A>C
|
|
|
NM_000441.2(SLC26A4):c.2035-2A>G
|
|
|
NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro)
|
|
|
NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)
|
|
|
NM_000441.2(SLC26A4):c.2069T>A (p.Val690Glu)
|
rs2129318790
|
|
NM_000441.2(SLC26A4):c.2089+1G>T
|
|
|
NM_000441.2(SLC26A4):c.208C>T (p.Pro70Ser)
|
|
|
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)
|
rs397516427
|
|
NM_000441.2(SLC26A4):c.2162C>A (p.Thr721Lys)
|
rs121908363
|
|
NM_000441.2(SLC26A4):c.2215dup (p.Gln739fs)
|
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)
|
|
|
NM_000441.2(SLC26A4):c.2235+2T>C
|
rs1554362815
|
|
NM_000441.2(SLC26A4):c.2248C>T (p.Gln750Ter)
|
|
|
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)
|
rs370588279
|
|
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)
|
rs1057516953
|
|
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu)
|
rs2129309208
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)
|
rs1409565648
|
|
NM_000441.2(SLC26A4):c.338del (p.Val113fs)
|
|
|
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)
|
rs984967571
|
|
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)
|
rs121908365
|
|
NM_000441.2(SLC26A4):c.401G>C (p.Arg134Thr)
|
rs1790889845
|
|
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)
|
rs111033199
|
|
NM_000441.2(SLC26A4):c.412_415+21delinsTGACA
|
|
|
NM_000441.2(SLC26A4):c.413T>A (p.Val138Asp)
|
rs1790890770
|
|
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.42del (p.Glu15fs)
|
rs1562817224
|
|
NM_000441.2(SLC26A4):c.518dup (p.Thr174fs)
|
|
|
NM_000441.2(SLC26A4):c.584T>C (p.Leu195Pro)
|
|
|
NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)
|
|
|
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)
|
rs111033380
|
|
NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)
|
|
|
NM_000441.2(SLC26A4):c.617T>A (p.Leu206Ter)
|
rs2129311933
|
|
NM_000441.2(SLC26A4):c.642del (p.Leu215fs)
|
|
|
NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter)
|
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu)
|
rs1349370504
|
|
NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs)
|
rs750365180
|
|
NM_000441.2(SLC26A4):c.765+3A>C
|
rs483353048
|
|
NM_000441.2(SLC26A4):c.839del (p.Val280fs)
|
|
|
NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp)
|
rs1554352240
|
|
NM_000441.2(SLC26A4):c.882_883del (p.His294fs)
|
rs2129314494
|
|
NM_000899.5(KITLG):c.16-2A>G
|
|
|
NM_000899.5(KITLG):c.715-2A>G
|
|
|
NM_001001331.4(ATP2B2):c.945dup (p.Asp316fs)
|
|
|
NM_001002295.2(GATA3):c.153dup (p.Asn52Ter)
|
rs2131482893
|
|
NM_001004051.4(GPRASP2):c.2363G>T (p.Ser788Ile)
|
|
|
NM_001031679.3(MSRB3):c.-147T>G
|
rs949229098
|
|
NM_001031679.3(MSRB3):c.406G>A (p.Gly136Arg)
|
rs2136722469
|
|
NM_001038603.3(MARVELD2):c.1122dup (p.Arg375Ter)
|
rs2150915422
|
|
NM_001038603.3(MARVELD2):c.1138C>T (p.Gln380Ter)
|
rs1766596437
|
|
NM_001038603.3(MARVELD2):c.1208_1211del (p.Arg403fs)
|
rs772030670
|
|
NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs)
|
rs1561299289
|
|
NM_001038603.3(MARVELD2):c.1331+2T>C
|
rs772048719
|
|
NM_001038603.3(MARVELD2):c.880_890del (p.Phe294fs)
|
rs770042200
|
|
NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter)
|
rs1569034190
|
|
NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter)
|
rs773152243
|
|
NM_001039141.3(TRIOBP):c.1855del (p.Ala619fs)
|
rs2145833313
|
|
NM_001039141.3(TRIOBP):c.3145_3146del (p.Glu1048_Ser1049insTer)
|
rs1555896285
|
|
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs)
|
rs771696726
|
|
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs)
|
rs1569042782
|
|
NM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter)
|
rs1329127252
|
|
NM_001039141.3(TRIOBP):c.4436del (p.Gly1479fs)
|
rs756145453
|
|
NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser)
|
rs1569040134
|
|
NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs)
|
rs1599814534
|
|
NM_001039876.3(SYNE4):c.377del (p.Gly126fs)
|
|
|
NM_001039876.3(SYNE4):c.653T>A (p.Leu218Ter)
|
|
|
NM_001042517.2(DIAPH3):c.2266-2A>G
|
rs1593949468
|
|
NM_001042702.5(PJVK):c.158C>G (p.Ser53Ter)
|
rs538027448
|
|
NM_001042702.5(PJVK):c.162_172del (p.Pro55fs)
|
rs1559366084
|
|
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del)
|
rs1559372512
|
|
NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter)
|
rs267606855
|
|
NM_001080476.3(GRXCR1):c.655G>A (p.Glu219Lys)
|
rs1560690591
|
|
NM_001080476.3(GRXCR1):c.668T>A (p.Leu223Gln)
|
|
|
NM_001080517.3(SETD5):c.2182del (p.Asp728fs)
|
rs2125288982
|
|
NM_001110219.3(GJB6):c.487del (p.Leu163fs)
|
rs1566538321
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001122659.3(EDNRB):c.1013C>T (p.Pro338Leu)
|
rs1566304640
|
|
NM_001122659.3(EDNRB):c.878dup (p.Tyr293Ter)
|
rs1064797177
|
|
NM_001124758.3(SPNS2):c.906G>A (p.Trp302Ter)
|
|
|
NM_001127453.2(GSDME):c.1183+5G>A
|
rs777359423
|
|
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)
|
rs374353052
|
|
NM_001127453.2(GSDME):c.212-1G>A
|
rs1790597003
|
|
NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter)
|
rs1187168418
|
|
NM_001142966.3(GREB1L):c.2594T>A (p.Leu865Ter)
|
rs2145813286
|
|
NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter)
|
rs2146025908
|
|
NM_001145026.2(PTPRQ):c.1291C>T (p.Arg431Ter)
|
|
|
NM_001145026.2(PTPRQ):c.2621C>A (p.Ser874Ter)
|
rs948217913
|
|
NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr)
|
|
|
NM_001145026.2(PTPRQ):c.3308_3309del (p.Leu1103fs)
|
|
|
NM_001145026.2(PTPRQ):c.3G>A (p.Met1Ile)
|
rs916582229
|
|
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs)
|
rs1565819402
|
|
NM_001145026.2(PTPRQ):c.6024+2T>C
|
rs2121223982
|
|
NM_001145026.2(PTPRQ):c.6194_6453+1del
|
rs2121280782
|
|
NM_001145026.2(PTPRQ):c.6739-1G>A
|
rs1565855932
|
|
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=)
|
rs774544844
|
|
NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser)
|
rs1577876794
|
|
NM_001145809.2(MYH14):c.571G>A (p.Asp191Asn)
|
|
|
NM_001145809.2(MYH14):c.571G>C (p.Asp191His)
|
|
|
NM_001145951.2(TIMM8A):c.*1727_*1729del
|
rs1555976134
|
|
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr)
|
rs1568839335
|
|
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)
|
rs74315437
|
|
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg)
|
rs786204841
|
|
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)
|
rs953422571
|
|
NM_001195263.2(PDZD7):c.1750-2A>G
|
|
|
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)
|
rs1055318738
|
|
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)
|
rs397516633
|
|
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del)
|
rs397516636
|
|
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)
|
rs148695069
|
|
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)
|
rs200664140
|
|
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg)
|
rs1554835827
|
|
NM_001198533.2(OXR1):c.233A>G (p.Lys78Arg)
|
|
|
NM_001199107.2(TBC1D24):c.1302+1G>T
|
|
|
NM_001199107.2(TBC1D24):c.1303-2A>G
|
rs2141876985
|
|
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs)
|
rs1292551263
|
|
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
|
|
|
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys)
|
rs1057524192
|
|
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser)
|
rs1489466696
|
|
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)
|
rs1057519630
|
|
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys)
|
rs763626059
|
|
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln)
|
rs756181906
|
|
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)
|
rs1555501320
|
|
NM_001199107.2(TBC1D24):c.965+1G>T
|
|
|
NM_001199107.2(TBC1D24):c.983+1G>C
|
rs2141873582
|
|
NM_001199107.2(TBC1D24):c.983+2T>C
|
rs1596969717
|
|
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs)
|
rs1226171550
|
|
NM_001199799.2(ILDR1):c.1137del (p.Glu379fs)
|
rs2071390190
|
|
NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs)
|
rs1559870857
|
|
NM_001199799.2(ILDR1):c.206C>A (p.Pro69His)
|
|
|
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile)
|
rs387907016
|
|
NM_001199799.2(ILDR1):c.745del (p.Ser249fs)
|
rs571007078
|
|
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His)
|
rs2103174031
|
|
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys)
|
rs180177452
|
|
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg)
|
rs773780151
|
|
NM_001256317.3(TMPRSS3):c.1328T>C (p.Ile443Thr)
|
|
|
NM_001256317.3(TMPRSS3):c.188T>G (p.Leu63Arg)
|
|
|
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)
|
rs727503493
|
|
NM_001256317.3(TMPRSS3):c.297del (p.Asp100fs)
|
|
|
NM_001256317.3(TMPRSS3):c.323-6G>A
|
rs374793617
|
|
NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln)
|
rs2052560214
|
|
NM_001256317.3(TMPRSS3):c.771C>G (p.His257Gln)
|
|
|
NM_001256317.3(TMPRSS3):c.783-1G>T
|
rs1237955948
|
|
NM_001256317.3(TMPRSS3):c.818G>T (p.Gly273Val)
|
|
|
NM_001256317.3(TMPRSS3):c.917C>T (p.Ala306Val)
|
|
|
NM_001256317.3(TMPRSS3):c.965C>A (p.Pro322His)
|
rs2146430688
|
|
NM_001277269.2(OTOG):c.7517-5_7518dup
|
rs1295062471
|
|
NM_001286445.3(RIPOR2):c.1498C>T (p.Arg500Ter)
|
|
|
NM_001292063.2(OTOG):c.1451G>T (p.Cys484Phe)
|
rs1051388148
|
|
NM_001292063.2(OTOG):c.2561+1del
|
rs1852533572
|
|
NM_001292063.2(OTOG):c.5281_5284dup (p.Ser1762Ter)
|
rs2134090994
|
|
NM_001292063.2(OTOG):c.5438T>G (p.Val1813Gly)
|
rs1853512469
|
|
NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter)
|
rs2134091591
|
|
NM_001292063.2(OTOG):c.5926del (p.Gln1976fs)
|
|
|
NM_001292063.2(OTOG):c.7199del (p.Cys2400fs)
|
rs1565127413
|
|
NM_001292063.2(OTOG):c.7860G>A (p.Trp2620Ter)
|
rs1565129771
|
|
NM_001292063.2(OTOG):c.8632C>T (p.Arg2878Cys)
|
|
|
NM_001292063.2(OTOG):c.880del (p.Asp294fs)
|
|
|
NM_001363118.2(SLC52A2):c.124C>G (p.Pro42Ala)
|
rs1175039425
|
|
NM_001363118.2(SLC52A2):c.973T>G (p.Cys325Gly)
|
rs1554854341
|
|
NM_001375524.1(TRRAP):c.2622+1G>A
|
|
|
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val)
|
rs1793524609
|
|
NM_001378454.1(ALMS1):c.3G>A (p.Met1Ile)
|
rs2104056063
|
|
NM_001378457.1(DMXL2):c.8219G>A (p.Arg2740His)
|
|
|
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val)
|
rs1277996676
|
|
NM_001378609.3(OTOGL):c.4279+1G>A
|
rs2137876491
|
|
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs)
|
rs763898293
|
|
NM_001378609.3(OTOGL):c.4600+1G>T
|
|
|
NM_001378609.3(OTOGL):c.5027C>G (p.Ser1676Ter)
|
rs1477766714
|
|
NM_001378609.3(OTOGL):c.5211C>A (p.Cys1737Ter)
|
rs2137943672
|
|
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
|
|
|
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs)
|
rs876657658
|
|
NM_001379180.1(ESRRB):c.*1451C>G
|
rs1485778712
|
|
NM_001379180.1(ESRRB):c.583C>T (p.Arg195Cys)
|
rs138510486
|
|
NM_001384140.1(PCDH15):c.1013dup (p.His339fs)
|
|
|
NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter)
|
rs2051720336
|
|
NM_001384140.1(PCDH15):c.1178C>T (p.Pro393Leu)
|
|
|
NM_001384140.1(PCDH15):c.1299del (p.Ile433fs)
|
|
|
NM_001384140.1(PCDH15):c.1306-1G>T
|
rs1299990309
|
|
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)
|
rs2133817680
|
|
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)
|
rs1193650682
|
|
NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter)
|
|
|
NM_001384140.1(PCDH15):c.1431C>A (p.Tyr477Ter)
|
|
|
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter)
|
rs2133801342
|
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
|
NM_001384140.1(PCDH15):c.1591-2A>C
|
|
|
NM_001384140.1(PCDH15):c.1717_1729del (p.Met573fs)
|
|
|
NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)
|
|
|
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter)
|
rs1264383341
|
|
NM_001384140.1(PCDH15):c.1738_1739del (p.Ala580fs)
|
|
|
NM_001384140.1(PCDH15):c.1738del (p.Ala580fs)
|
|
|
NM_001384140.1(PCDH15):c.1778_1784dup (p.Asn596fs)
|
|
|
NM_001384140.1(PCDH15):c.1784+1G>T
|
|
|
NM_001384140.1(PCDH15):c.1841del (p.Pro614fs)
|
|
|
NM_001384140.1(PCDH15):c.1917+1G>A
|
|
|
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs)
|
rs2136049616
|
|
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer)
|
rs765906921
|
|
NM_001384140.1(PCDH15):c.2092-2A>G
|
|
|
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
|
|
|
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
|
|
|
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter)
|
rs2094144044
|
|
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs)
|
rs2135322143
|
|
NM_001384140.1(PCDH15):c.2356G>T (p.Glu786Ter)
|
|
|
NM_001384140.1(PCDH15):c.2388dup (p.His797fs)
|
|
|
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)
|
rs757027638
|
|
NM_001384140.1(PCDH15):c.2544del (p.Gly849fs)
|
|
|
NM_001384140.1(PCDH15):c.2662C>T (p.Gln888Ter)
|
|
|
NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)
|
|
|
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter)
|
rs2091805733
|
|
NM_001384140.1(PCDH15):c.2825_2828dup (p.Pro944fs)
|
|
|
NM_001384140.1(PCDH15):c.2869-1G>T
|
rs1554883705
|
|
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs)
|
rs2134302083
|
|
NM_001384140.1(PCDH15):c.2922C>G (p.Tyr974Ter)
|
|
|
NM_001384140.1(PCDH15):c.3009+1G>C
|
|
|
NM_001384140.1(PCDH15):c.3009+1G>T
|
|
|
NM_001384140.1(PCDH15):c.3010-1G>C
|
rs2134277047
|
|
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
|
|
|
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)
|
rs1554882652
|
|
NM_001384140.1(PCDH15):c.3122+1G>A
|
rs982893820
|
|
NM_001384140.1(PCDH15):c.3300_3319dup (p.Val1107fs)
|
|
|
NM_001384140.1(PCDH15):c.3373+2T>C
|
|
|
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs)
|
rs746865307
|
|
NM_001384140.1(PCDH15):c.3499A>T (p.Lys1167Ter)
|
|
|
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)
|
rs1057517264
|
|
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
|
|
|
NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs)
|
|
|
NM_001384140.1(PCDH15):c.366del (p.Asn122fs)
|
rs1589072933
|
|
NM_001384140.1(PCDH15):c.3717+1G>C
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.371_372delinsT (p.Lys124fs)
|
|
|
NM_001384140.1(PCDH15):c.3751del (p.Ile1251fs)
|
|
|
NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)
|
|
|
NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs)
|
|
|
NM_001384140.1(PCDH15):c.3984-2A>C
|
|
|
NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs)
|
|
|
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)
|
rs137853003
|
|
NM_001384140.1(PCDH15):c.4094dup (p.Arg1366fs)
|
|
|
NM_001384140.1(PCDH15):c.4126del (p.Ala1376fs)
|
|
|
NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu)
|
rs2134714388
|
|
NM_001384140.1(PCDH15):c.4223_4226dup (p.Cys1409Ter)
|
|
|
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)
|
rs1057516472
|
|
NM_001384140.1(PCDH15):c.42del (p.Ile15fs)
|
|
|
NM_001384140.1(PCDH15):c.4367+1G>A
|
rs1057516613
|
|
NM_001384140.1(PCDH15):c.4367+2251G>A
|
|
|
NM_001384140.1(PCDH15):c.4367+2T>C
|
rs1554822703
|
|
NM_001384140.1(PCDH15):c.4367+2dup
|
|
|
NM_001384140.1(PCDH15):c.457dup (p.Tyr153fs)
|
|
|
NM_001384140.1(PCDH15):c.475-2A>G
|
|
|
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
|
rs766484375
|
|
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter)
|
rs1943288780
|
|
NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter)
|
rs1943286459
|
|
NM_001384140.1(PCDH15):c.754_755insAA (p.Thr252fs)
|
rs2133652254
|
|
NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln)
|
rs1564949059
|
|
NM_001384140.1(PCDH15):c.876+2T>C
|
|
|
NM_001384140.1(PCDH15):c.91+1G>A
|
rs1565887701
|
|
NM_001384140.1(PCDH15):c.915dup (p.Ala306fs)
|
|
|
NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs)
|
rs2144243196
|
|
NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1519-2A>T
|
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1904T>C (p.Leu635Pro)
|
rs1051629865
|
|
NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter)
|
|
|
NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2598+1G>A
|
|
|
NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)
|
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter)
|
rs2037495535
|
|
NM_001384474.1(LOXHD1):c.2842del (p.Glu948fs)
|
rs2144013371
|
|
NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs)
|
rs974766727
|
|
NM_001384474.1(LOXHD1):c.3061+1G>T
|
rs537227442
|
|
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter)
|
rs1555679863
|
|
NM_001384474.1(LOXHD1):c.3350+1G>A
|
rs1301706601
|
|
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs)
|
rs2143824066
|
|
NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3663del (p.Phe1221fs)
|
rs2144371589
|
|
NM_001384474.1(LOXHD1):c.3727C>T (p.Arg1243Trp)
|
|
|
NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3999C>A (p.Cys1333Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4095+1G>A
|
rs1280052681
|
|
NM_001384474.1(LOXHD1):c.4096-1G>C
|
rs749861944
|
|
NM_001384474.1(LOXHD1):c.4375+1G>T
|
rs2036150181
|
|
NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter)
|
|
|
NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)
|
rs75949023
|
|
NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4740+1G>A
|
rs2144167172
|
|
NM_001384474.1(LOXHD1):c.4877-1G>A
|
rs1598909650
|
|
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)
|
|
|
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs)
|
rs776345911
|
|
NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs)
|
|
|
NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs)
|
|
|
NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs)
|
|
|
NM_001384474.1(LOXHD1):c.5907T>A (p.Tyr1969Ter)
|
rs1598827506
|
|
NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs)
|
|
|
NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs)
|
|
|
NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs)
|
rs2032939837
|
|
NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs)
|
|
|
NM_001384474.1(LOXHD1):c.6182+1G>T
|
rs200375658
|
|
NM_001384474.1(LOXHD1):c.6342-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter)
|
rs1434725624
|
|
NM_001384474.1(LOXHD1):c.870del (p.Ala291fs)
|
|
|
NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter)
|
|
|
NM_001393500.2(TOMT):c.285_286insCTCG (p.Glu96fs)
|
rs1565331646
|
|
NM_001393500.2(TOMT):c.467del (p.Ile156fs)
|
|
|
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)
|
rs1568060200
|
|
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp)
|
rs1192977984
|
|
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val)
|
rs782217473
|
|
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
|
|
|
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
|
|
|
NM_001614.5(ACTG1):c.20C>T (p.Ala7Val)
|
|
|
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val)
|
rs11549190
|
|
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
|
|
|
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe)
|
rs2143779274
|
|
NM_001614.5(ACTG1):c.440G>A (p.Arg147His)
|
rs2143779222
|
|
NM_001614.5(ACTG1):c.457A>G (p.Met153Val)
|
rs1555666789
|
|
NM_001614.5(ACTG1):c.493A>G (p.Ile165Val)
|
rs2031770749
|
|
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val)
|
rs797044730
|
|
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp)
|
rs1362994447
|
|
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met)
|
rs281875327
|
|
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln)
|
rs1555666715
|
|
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
|
|
|
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)
|
rs267606631
|
|
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)
|
rs281875328
|
|
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)
|
rs281875329
|
|
NM_001614.5(ACTG1):c.826G>A (p.Glu276Lys)
|
rs2143775790
|
|
NM_001614.5(ACTG1):c.848T>C (p.Met283Thr)
|
rs2143775617
|
|
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser)
|
rs1598551290
|
|
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
|
|
|
NM_001792.5(CDH2):c.1471G>C (p.Val491Leu)
|
|
|
NM_001792.5(CDH2):c.1805C>G (p.Ala602Gly)
|
|
|
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)
|
rs1558939623
|
|
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp)
|
rs1057518908
|
|
NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)
|
|
|
NM_001854.4(COL11A1):c.2287G>T (p.Gly763Ter)
|
rs2101794024
|
|
NM_001854.4(COL11A1):c.3168+1G>A
|
rs886042653
|
|
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala)
|
rs1477374848
|
|
NM_001854.4(COL11A1):c.3600+2T>C
|
|
|
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)
|
rs750291363
|
|
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)
|
rs763199410
|
|
NM_001854.4(COL11A1):c.4302+2T>C
|
rs1553196233
|
|
NM_001854.4(COL11A1):c.652-1G>C
|
rs1064797115
|
|
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)
|
rs137853071
|
|
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)
|
rs1184544985
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
NM_002700.3(POU4F3):c.374C>T (p.Pro125Leu)
|
rs1561590396
|
|
NM_002700.3(POU4F3):c.479del (p.Gly160fs)
|
|
|
NM_002700.3(POU4F3):c.494_497del (p.His165fs)
|
|
|
NM_002700.3(POU4F3):c.545C>G (p.Ser182Ter)
|
rs1284441535
|
|
NM_002700.3(POU4F3):c.635T>C (p.Leu212Pro)
|
rs1760430376
|
|
NM_002700.3(POU4F3):c.696G>T (p.Glu232Asp)
|
rs1760431636
|
|
NM_002700.3(POU4F3):c.743T>C (p.Leu248Pro)
|
|
|
NM_002700.3(POU4F3):c.879C>G (p.Phe293Leu)
|
|
|
NM_002700.3(POU4F3):c.952G>A (p.Val318Met)
|
rs2126962041
|
|
NM_002906.4(RDX):c.-64-1215_12+348del
|
|
|
NM_002906.4(RDX):c.1076_1079del (p.Ile359fs)
|
|
|
NM_002906.4(RDX):c.1141C>T (p.Arg381Ter)
|
rs1308348441
|
|
NM_002906.4(RDX):c.295C>T (p.Gln99Ter)
|
|
|
NM_002906.4(RDX):c.513_514del (p.Arg171fs)
|
rs2134364635
|
|
NM_003672.4(CDC14A):c.50-1G>T
|
rs2100872719
|
|
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly)
|
rs148737918
|
|
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln)
|
rs369245990
|
|
NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro)
|
rs1339709390
|
|
NM_003722.5(TP63):c.589G>C (p.Glu197Gln)
|
|
|
NM_004004.6(GJB2):c.-23G>T
|
rs786204734
|
|
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly)
|
rs111033296
|
|
NM_004004.6(GJB2):c.11del (p.Gly4fs)
|
rs1555342014
|
|
NM_004004.6(GJB2):c.130_131del (p.Trp44fs)
|
rs1555341993
|
|
NM_004004.6(GJB2):c.134del (p.Gly45fs)
|
rs1057517491
|
|
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe)
|
rs587783645
|
|
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser)
|
rs1064797090
|
|
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)
|
rs750188782
|
|
NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr)
|
rs104894403
|
|
NM_004004.6(GJB2):c.1A>T (p.Met1Leu)
|
rs111033293
|
|
NM_004004.6(GJB2):c.223C>G (p.Arg75Gly)
|
rs104894402
|
|
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)
|
rs104894402
|
|
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)
|
rs104894395
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.232G>A (p.Ala78Thr)
|
rs1959060696
|
|
NM_004004.6(GJB2):c.232dup (p.Ala78fs)
|
rs1555341960
|
|
NM_004004.6(GJB2):c.239dup (p.Leu81fs)
|
rs1555341954
|
|
NM_004004.6(GJB2):c.247_249del (p.Phe83del)
|
rs2137308192
|
|
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)
|
rs1291519904
|
|
NM_004004.6(GJB2):c.257del (p.Thr86fs)
|
rs1555341949
|
|
NM_004004.6(GJB2):c.2T>G (p.Met1Arg)
|
rs371086981
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.326G>T (p.Gly109Val)
|
rs374572413
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer)
|
rs1555341926
|
|
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter)
|
rs150529554
|
|
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.382A>G (p.Ile128Val)
|
rs1959058329
|
|
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)
|
rs397516875
|
|
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)
|
rs779018464
|
|
NM_004004.6(GJB2):c.3G>A (p.Met1Ile)
|
|
|
NM_004004.6(GJB2):c.409A>C (p.Thr137Pro)
|
rs2137307658
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
|
rs111033225
|
|
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
|
rs111033420
|
|
NM_004004.6(GJB2):c.458_475dup (p.Tyr158_Asp159insValPheTyrValMetTyr)
|
|
|
NM_004004.6(GJB2):c.49_50del (p.Ser17fs)
|
rs1555342007
|
|
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg)
|
rs760489970
|
|
NM_004004.6(GJB2):c.514del (p.Trp172fs)
|
rs1057517508
|
|
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)
|
rs1302739538
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)
|
rs1566528185
|
|
NM_004004.6(GJB2):c.564_565del (p.Lys188fs)
|
rs770116143
|
|
NM_004004.6(GJB2):c.575_576del (p.Thr192fs)
|
rs1057517521
|
|
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)
|
rs111033335
|
|
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)
|
rs786204597
|
|
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)
|
rs1057517519
|
|
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)
|
rs587783646
|
|
NM_004004.6(GJB2):c.645del (p.Arg216fs)
|
rs1555341794
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004004.6(GJB2):c.668_671del (p.Lys223fs)
|
rs1555341783
|
|
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)
|
rs371024165
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val)
|
rs1557458426
|
|
NM_004086.3(COCH):c.1053C>A (p.Cys351Ter)
|
rs1895773215
|
|
NM_004086.3(COCH):c.151C>T (p.Pro51Ser)
|
rs28938175
|
|
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)
|
rs121908932
|
|
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter)
|
rs1562505728
|
|
NM_004100.5(EYA4):c.1463dup (p.Glu490fs)
|
rs2128782580
|
|
NM_004100.5(EYA4):c.1468G>T (p.Glu490Ter)
|
rs1305000119
|
|
NM_004100.5(EYA4):c.472C>T (p.Gln158Ter)
|
rs1794473050
|
|
NM_004208.4(AIFM1):c.-123G>C
|
rs724160014
|
|
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)
|
rs1057518895
|
|
NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg)
|
rs724160026
|
|
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.1319C>T (p.Ala440Val)
|
rs724160025
|
|
NM_004208.4(AIFM1):c.1394C>T (p.Ala465Val)
|
|
|
NM_004208.4(AIFM1):c.1408A>T (p.Thr470Ser)
|
|
|
NM_004208.4(AIFM1):c.1415C>T (p.Ala472Val)
|
|
|
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu)
|
rs724160022
|
|
NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His)
|
rs724160024
|
|
NM_004208.4(AIFM1):c.1705A>G (p.Arg569Gly)
|
|
|
NM_004208.4(AIFM1):c.1773C>G (p.Ile591Met)
|
|
|
NM_004208.4(AIFM1):c.434C>T (p.Ala145Val)
|
rs724160015
|
|
NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro)
|
rs724160016
|
|
NM_004208.4(AIFM1):c.697G>A (p.Val233Ile)
|
|
|
NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr)
|
rs724160018
|
|
NM_004208.4(AIFM1):c.902A>T (p.Lys301Ile)
|
|
|
NM_004287.5(GOSR2):c.1A>C (p.Met1Leu)
|
|
|
NM_004447.6(EPS8):c.1435-2A>T
|
rs1945336251
|
|
NM_004525.3(LRP2):c.9449G>A (p.Cys3150Tyr)
|
|
|
NM_004526.4(MCM2):c.388C>T (p.Arg130Cys)
|
rs770528099
|
|
NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile)
|
rs1225963332
|
|
NM_004604.5(STX4):c.232+6T>C
|
|
|
NM_004700.4(KCNQ4):c.1251del (p.Cys418fs)
|
rs2148324207
|
|
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter)
|
rs1648636515
|
|
NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter)
|
|
|
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys)
|
rs956666801
|
|
NM_004700.4(KCNQ4):c.826T>C (p.Trp276Arg)
|
rs2148319465
|
|
NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser)
|
rs876657841
|
|
NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser)
|
rs137853969
|
|
NM_004984.4(KIF5A):c.2396A>G (p.Lys799Arg)
|
|
|
NM_004999.4(MYO6):c.188-1G>T
|
|
|
NM_004999.4(MYO6):c.2078-2A>G
|
rs1777874560
|
|
NM_004999.4(MYO6):c.2397C>A (p.Cys799Ter)
|
rs2149347766
|
|
NM_004999.4(MYO6):c.2416+2T>C
|
|
|
NM_004999.4(MYO6):c.2437C>T (p.Arg813Ter)
|
|
|
NM_004999.4(MYO6):c.2442_2445dup (p.Ala816Ter)
|
|
|
NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer)
|
|
|
NM_004999.4(MYO6):c.2751dup (p.Gln918fs)
|
rs551348450
|
|
NM_004999.4(MYO6):c.2777T>A (p.Leu926Gln)
|
rs2149367858
|
|
NM_004999.4(MYO6):c.3340dup (p.Ala1114fs)
|
|
|
NM_004999.4(MYO6):c.78del (p.Asp27fs)
|
rs1771411002
|
|
NM_004999.4(MYO6):c.866_869del (p.Lys289fs)
|
rs749752357
|
|
NM_004999.4(MYO6):c.897G>T (p.Glu299Asp)
|
rs1060499799
|
|
NM_005219.5(DIAPH1):c.1280+2T>G
|
rs2154596416
|
|
NM_005219.5(DIAPH1):c.144+2T>G
|
|
|
NM_005219.5(DIAPH1):c.2676+2T>G
|
|
|
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg)
|
rs1596339533
|
|
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)
|
rs1235751512
|
|
NM_005219.5(DIAPH1):c.3629_3630del (p.Ala1210fs)
|
rs1596335566
|
|
NM_005219.5(DIAPH1):c.402+2T>C
|
rs2154596613
|
|
NM_005219.5(DIAPH1):c.621-2A>G
|
rs2099896905
|
|
NM_005219.5(DIAPH1):c.791C>A (p.Ser264Tyr)
|
|
|
NM_005422.4(TECTA):c.102del (p.Asn34fs)
|
rs2135050168
|
|
NM_005422.4(TECTA):c.1247_1248del (p.Gly416fs)
|
rs773573968
|
|
NM_005422.4(TECTA):c.1774G>A (p.Val592Met)
|
rs1565522273
|
|
NM_005422.4(TECTA):c.2359del (p.Glu787fs)
|
rs1057519150
|
|
NM_005422.4(TECTA):c.2458A>T (p.Lys820Ter)
|
|
|
NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter)
|
rs368050948
|
|
NM_005422.4(TECTA):c.2785del (p.Val929fs)
|
rs34851638
|
|
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)
|
rs121909059
|
|
NM_005422.4(TECTA):c.4422del (p.Asn1474fs)
|
rs2135120291
|
|
NM_005422.4(TECTA):c.5510G>A (p.Cys1837Tyr)
|
rs1947056659
|
|
NM_005422.4(TECTA):c.5539T>C (p.Ser1847Pro)
|
rs1947057220
|
|
NM_005422.4(TECTA):c.569C>T (p.Thr190Met)
|
|
|
NM_005422.4(TECTA):c.6162+5G>A
|
rs1565541888
|
|
NM_005422.4(TECTA):c.6353del (p.Gly2118fs)
|
rs1223512271
|
|
NM_005422.4(TECTA):c.840_841insT (p.Val281fs)
|
rs1565519673
|
|
NM_005797.4(MPZL2):c.226-1G>A
|
rs1949708829
|
|
NM_005797.4(MPZL2):c.280C>T (p.Arg94Trp)
|
|
|
NM_005797.4(MPZL2):c.319_320dup (p.Ile108fs)
|
rs2134734280
|
|
NM_005797.4(MPZL2):c.3G>T (p.Met1Ile)
|
|
|
NM_005797.4(MPZL2):c.68del (p.Pro23fs)
|
|
|
NM_005909.5(MAP1B):c.2995C>T (p.Arg999Ter)
|
|
|
NM_005982.4(SIX1):c.316G>T (p.Val106Leu)
|
rs2140241235
|
|
NM_005982.4(SIX1):c.329G>T (p.Arg110Leu)
|
rs1064794308
|
|
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)
|
rs797044960
|
|
NM_005982.4(SIX1):c.397_399del (p.Glu133del)
|
rs80356460
|
|
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter)
|
rs1060499595
|
|
NM_006005.3(WFS1):c.1508T>G (p.Val503Gly)
|
|
|
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del)
|
rs781262017
|
|
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del)
|
rs777904670
|
|
NM_006005.3(WFS1):c.1544_1545insA (p.Phe515fs)
|
|
|
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer)
|
rs1560419631
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006005.3(WFS1):c.2123G>T (p.Arg708Leu)
|
|
|
NM_006005.3(WFS1):c.2411T>C (p.Leu804Pro)
|
rs1131691778
|
|
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)
|
rs74315205
|
|
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)
|
rs1560422383
|
|
NM_006005.3(WFS1):c.2645T>G (p.Phe882Cys)
|
|
|
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)
|
rs764993824
|
|
NM_006016.6(CD164):c.574C>T (p.Arg192Ter)
|
rs876661402
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006383.4(CIB2):c.199-1G>A
|
|
|
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp)
|
rs370965183
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
NM_012208.4(HARS2):c.1439G>A (p.Arg480His)
|
rs200089613
|
|
NM_012208.4(HARS2):c.72C>A (p.Cys24Ter)
|
rs1581536078
|
|
NM_012208.4(HARS2):c.828delinsGTATCCCTAGTATTTCTACTA (p.Gly276_Gly277insTyrProTer)
|
rs1581550832
|
|
NM_012478.4(WBP2):c.161C>G (p.Pro54Arg)
|
rs770968991
|
|
NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu)
|
rs755804651
|
|
NM_014332.3(SMPX):c.132+1G>A
|
rs2147390444
|
|
NM_014332.3(SMPX):c.133-1G>A
|
rs1060499590
|
|
NM_014332.3(SMPX):c.140del (p.Pro47fs)
|
rs2147387122
|
|
NM_014332.3(SMPX):c.217del (p.Ile73fs)
|
|
|
NM_014332.3(SMPX):c.29del (p.Asn10fs)
|
rs2092830420
|
|
NM_014874.4(MFN2):c.754A>G (p.Asn252Asp)
|
|
|
NM_015100.4(POGZ):c.402_409dup (p.His137fs)
|
rs1057518799
|
|
NM_015205.3(ATP11A):c.3044_3045del (p.Thr1015fs)
|
|
|
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs)
|
rs1564113368
|
|
NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp)
|
rs1810682433
|
|
NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter)
|
|
|
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)
|
rs730882234
|
|
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs)
|
rs750130520
|
|
NM_016239.4(MYO15A):c.10129dup (p.Ala3377fs)
|
rs2142428987
|
|
NM_016239.4(MYO15A):c.10209delinsCCAGGCCCGTGCAGCTC (p.Gln3403fs)
|
rs1057519601
|
|
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del)
|
rs760069953
|
|
NM_016239.4(MYO15A):c.10294_10308del (p.Pro3432_Ala3436del)
|
rs2142430892
|
|
NM_016239.4(MYO15A):c.10351-15T>G
|
|
|
NM_016239.4(MYO15A):c.10360_10362del (p.Val3454del)
|
rs2142436001
|
|
NM_016239.4(MYO15A):c.1101del (p.Tyr368fs)
|
rs2142243946
|
|
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)
|
rs769260536
|
|
NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs)
|
rs2142244867
|
|
NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter)
|
rs1445431722
|
|
NM_016239.4(MYO15A):c.1971G>A (p.Trp657Ter)
|
rs1567623176
|
|
NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter)
|
rs767378045
|
|
NM_016239.4(MYO15A):c.2873del (p.Pro958fs)
|
rs1217492313
|
|
NM_016239.4(MYO15A):c.3233G>A (p.Trp1078Ter)
|
rs866595552
|
|
NM_016239.4(MYO15A):c.346_376del (p.Gly116fs)
|
rs1597747826
|
|
NM_016239.4(MYO15A):c.3576G>A (p.Trp1192Ter)
|
|
|
NM_016239.4(MYO15A):c.3904del (p.Met1302fs)
|
rs2142282007
|
|
NM_016239.4(MYO15A):c.3932T>C (p.Ile1311Thr)
|
rs1057519603
|
|
NM_016239.4(MYO15A):c.4030C>T (p.Gln1344Ter)
|
rs2142283941
|
|
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys)
|
rs1060499798
|
|
NM_016239.4(MYO15A):c.4454T>C (p.Leu1485Pro)
|
rs751973078
|
|
NM_016239.4(MYO15A):c.4482+2T>C
|
rs2142307505
|
|
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter)
|
rs779077039
|
|
NM_016239.4(MYO15A):c.4538C>T (p.Ala1513Val)
|
rs2142315607
|
|
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter)
|
rs1209665716
|
|
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter)
|
rs1567641234
|
|
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs)
|
rs1555543836
|
|
NM_016239.4(MYO15A):c.5362T>G (p.Cys1788Gly)
|
rs2142335605
|
|
NM_016239.4(MYO15A):c.5461del (p.Val1821fs)
|
rs764867438
|
|
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu)
|
rs752816535
|
|
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter)
|
rs2142343642
|
|
NM_016239.4(MYO15A):c.5886C>A (p.Tyr1962Ter)
|
|
|
NM_016239.4(MYO15A):c.5941G>T (p.Gly1981Trp)
|
rs1240409145
|
|
NM_016239.4(MYO15A):c.6045A>T (p.Ala2015=)
|
rs2142347739
|
|
NM_016239.4(MYO15A):c.6177+1G>T
|
rs751142446
|
|
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe)
|
rs121908965
|
|
NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg)
|
rs2142355107
|
|
NM_016239.4(MYO15A):c.6510-1G>T
|
rs2142360420
|
|
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs)
|
rs2142360575
|
|
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His)
|
rs2046512154
|
|
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu)
|
|
|
NM_016239.4(MYO15A):c.6764+1G>T
|
rs2046521710
|
|
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs)
|
rs2142363190
|
|
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter)
|
rs1330406146
|
|
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys)
|
rs2045862543
|
|
NM_016239.4(MYO15A):c.7313dup (p.Glu2439fs)
|
|
|
NM_016239.4(MYO15A):c.7711_7712dup (p.Gln2571fs)
|
rs1267868260
|
|
NM_016239.4(MYO15A):c.7771del (p.Arg2591fs)
|
rs2142370684
|
|
NM_016239.4(MYO15A):c.8088+1G>A
|
rs773461233
|
|
NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys)
|
rs1288328459
|
|
NM_016239.4(MYO15A):c.8224+3A>G
|
rs1057519605
|
|
NM_016239.4(MYO15A):c.8245_8246del (p.Gln2749fs)
|
rs2142381103
|
|
NM_016239.4(MYO15A):c.8285_8308del (p.Val2762_Trp2769del)
|
rs2142381306
|
|
NM_016239.4(MYO15A):c.8458A>C (p.Ser2820Arg)
|
rs2142382400
|
|
NM_016239.4(MYO15A):c.8601+2T>G
|
|
|
NM_016239.4(MYO15A):c.8789-2A>G
|
|
|
NM_016239.4(MYO15A):c.8791del (p.Trp2931fs)
|
rs2142388348
|
|
NM_016239.4(MYO15A):c.8828T>C (p.Phe2943Ser)
|
rs2142388547
|
|
NM_016239.4(MYO15A):c.8910del (p.Val2971fs)
|
|
|
NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter)
|
rs774312110
|
|
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter)
|
rs1567658710
|
|
NM_016239.4(MYO15A):c.9084-1G>T
|
rs1567658906
|
|
NM_016239.4(MYO15A):c.9341dup (p.Tyr3114Ter)
|
|
|
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs)
|
rs2046752611
|
|
NM_016239.4(MYO15A):c.9443G>A (p.Cys3148Tyr)
|
|
|
NM_016239.4(MYO15A):c.9467T>C (p.Leu3156Pro)
|
rs2046774616
|
|
NM_016239.4(MYO15A):c.9620G>T (p.Arg3207Leu)
|
rs199621031
|
|
NM_016239.4(MYO15A):c.[5192T>C;823G>C]
|
|
|
NM_016356.5(DCDC2):c.426-2A>G
|
rs2113838226
|
|
NM_016356.5(DCDC2):c.549dup (p.Val184fs)
|
rs1581640646
|
|
NM_016356.5(DCDC2):c.970dup (p.Ala324fs)
|
rs774115675
|
|
NM_016366.3(CABP2):c.482del (p.Phe161fs)
|
rs368437370
|
|
NM_016366.3(CABP2):c.490-8C>A
|
rs776117741
|
|
NM_016366.3(CABP2):c.60C>A (p.Leu20=)
|
|
|
NM_016929.5(CLIC5):c.644G>A (p.Trp215Ter)
|
rs1043716893
|
|
NM_017433.5(MYO3A):c.2636-1G>T
|
rs1564602202
|
|
NM_017433.5(MYO3A):c.3093G>A (p.Trp1031Ter)
|
rs2131991331
|
|
NM_017433.5(MYO3A):c.3383del (p.Asn1128fs)
|
|
|
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs)
|
rs752046945
|
|
NM_018006.5(TRMU):c.1019-1G>A
|
rs773484808
|
|
NM_018006.5(TRMU):c.1019-2_1023del
|
|
|
NM_018006.5(TRMU):c.1028_1029del (p.Val343fs)
|
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_018006.5(TRMU):c.1101+1G>A
|
|
|
NM_018006.5(TRMU):c.1102-22_1130del
|
|
|
NM_018006.5(TRMU):c.1103_1109del
|
|
|
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu)
|
rs774047684
|
|
NM_018006.5(TRMU):c.177_178del (p.Arg59fs)
|
|
|
NM_018006.5(TRMU):c.231T>A (p.Tyr77Ter)
|
|
|
NM_018006.5(TRMU):c.248+1G>T
|
|
|
NM_018006.5(TRMU):c.249-2A>C
|
|
|
NM_018006.5(TRMU):c.260_263del (p.Asn87fs)
|
|
|
NM_018006.5(TRMU):c.333dup (p.His112fs)
|
rs756600903
|
|
NM_018006.5(TRMU):c.355+1G>C
|
rs1407825579
|
|
NM_018006.5(TRMU):c.355+1G>T
|
|
|
NM_018006.5(TRMU):c.356-2_356-1del
|
rs2147053913
|
|
NM_018006.5(TRMU):c.356-2del
|
|
|
NM_018006.5(TRMU):c.380dup (p.His127fs)
|
|
|
NM_018006.5(TRMU):c.397del (p.Leu133fs)
|
|
|
NM_018006.5(TRMU):c.416_417del (p.Val138_Phe139insTer)
|
|
|
NM_018006.5(TRMU):c.428_459dup (p.Arg154fs)
|
rs2147054656
|
|
NM_018006.5(TRMU):c.458del (p.Asn153fs)
|
|
|
NM_018006.5(TRMU):c.478+1G>A
|
rs1569072157
|
|
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del)
|
rs762710723
|
|
NM_018006.5(TRMU):c.544C>T (p.Gln182Ter)
|
|
|
NM_018006.5(TRMU):c.575dup (p.Leu195fs)
|
|
|
NM_018006.5(TRMU):c.581del (p.Gly194fs)
|
rs763926467
|
|
NM_018006.5(TRMU):c.581dup (p.Leu195fs)
|
|
|
NM_018006.5(TRMU):c.591del (p.Glu198fs)
|
|
|
NM_018006.5(TRMU):c.5_27dup (p.Ala10fs)
|
|
|
NM_018006.5(TRMU):c.652-2A>G
|
|
|
NM_018006.5(TRMU):c.660dup (p.Met221fs)
|
|
|
NM_018006.5(TRMU):c.703C>T (p.Gln235Ter)
|
rs1800386420
|
|
NM_018006.5(TRMU):c.706-2A>G
|
|
|
NM_018006.5(TRMU):c.737_738insT (p.Ile247fs)
|
|
|
NM_018006.5(TRMU):c.772+2T>G
|
rs2147096093
|
|
NM_018006.5(TRMU):c.777G>A (p.Trp259Ter)
|
|
|
NM_018006.5(TRMU):c.824_825del (p.Glu275fs)
|
|
|
NM_018006.5(TRMU):c.824_825dup (p.Pro276fs)
|
rs1191230933
|
|
NM_018006.5(TRMU):c.830G>A (p.Trp277Ter)
|
|
|
NM_018006.5(TRMU):c.867_868del (p.Phe290fs)
|
|
|
NM_018006.5(TRMU):c.872_873del (p.Val291fs)
|
|
|
NM_018006.5(TRMU):c.873+2T>G
|
|
|
NM_018006.5(TRMU):c.874-1G>C
|
|
|
NM_018006.5(TRMU):c.874-2A>G
|
|
|
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter)
|
rs769668643
|
|
NM_018006.5(TRMU):c.880del (p.Arg294fs)
|
rs1490906786
|
|
NM_018006.5(TRMU):c.882del (p.Thr295fs)
|
|
|
NM_018006.5(TRMU):c.903C>A (p.Tyr301Ter)
|
|
|
NM_018006.5(TRMU):c.925del (p.Arg309fs)
|
|
|
NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del)
|
rs746982385
|
|
NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup)
|
rs773682747
|
|
NM_020982.4(CLDN9):c.500dup (p.Trp168fs)
|
rs1567404609
|
|
NM_021625.5(TRPV4):c.1596G>T (p.Leu532Phe)
|
|
|
NM_021830.5(TWNK):c.1217G>A (p.Arg406Gln)
|
|
|
NM_021830.5(TWNK):c.1388G>A (p.Arg463Gln)
|
|
|
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser)
|
rs1060499791
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser)
|
rs1060499792
|
|
NM_022124.6(CDH23):c.1986+3A>T
|
rs2132682822
|
|
NM_022124.6(CDH23):c.2334G>A (p.Trp778Ter)
|
rs868188730
|
|
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly)
|
rs2132740263
|
|
NM_022124.6(CDH23):c.2956del (p.Leu986fs)
|
rs2132745856
|
|
NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys)
|
rs2132751512
|
|
NM_022124.6(CDH23):c.3215C>A (p.Ala1072Asp)
|
rs2132751525
|
|
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter)
|
rs397517323
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)
|
rs876657754
|
|
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)
|
rs121908350
|
|
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT
|
rs1589384283
|
|
NM_022124.6(CDH23):c.478del (p.Asp160fs)
|
rs2132358279
|
|
NM_022124.6(CDH23):c.5149T>C (p.Cys1717Arg)
|
rs552998089
|
|
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)
|
rs1060499789
|
|
NM_022124.6(CDH23):c.6049+1G>A
|
rs111033247
|
|
NM_022124.6(CDH23):c.6067_6070dup (p.Gly2024fs)
|
rs1564795354
|
|
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
|
rs762226905
|
|
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn)
|
rs121908348
|
|
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro)
|
rs762118583
|
|
NM_022124.6(CDH23):c.6379G>T (p.Val2127Phe)
|
rs765026901
|
|
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp)
|
rs2132954257
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022124.6(CDH23):c.683A>T (p.Asp228Val)
|
rs1060499788
|
|
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)
|
rs876657756
|
|
NM_022124.6(CDH23):c.6965A>T (p.Asp2322Val)
|
|
|
NM_022124.6(CDH23):c.6992T>C (p.Val2331Ala)
|
rs2132965891
|
|
NM_022124.6(CDH23):c.7826C>T (p.Pro2609Leu)
|
|
|
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
|
rs774559018
|
|
NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter)
|
rs1564803868
|
|
NM_022124.6(CDH23):c.8140G>T (p.Asp2714Tyr)
|
rs2132985083
|
|
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro)
|
rs1060499790
|
|
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser)
|
rs397517356
|
|
NM_022124.6(CDH23):c.833G>A (p.Gly278Glu)
|
rs1861130719
|
|
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs)
|
rs1564805114
|
|
NM_022124.6(CDH23):c.8377C>T (p.Arg2793Trp)
|
|
|
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg)
|
rs767343063
|
|
NM_024063.3(AFG2B):c.[213T>G;1313T>C]
|
|
|
NM_024417.5(FDXR):c.623C>T (p.Thr208Met)
|
|
|
NM_024678.6(NARS2):c.1339A>G (p.Met447Val)
|
rs953849956
|
|
NM_024678.6(NARS2):c.637G>T (p.Val213Phe)
|
rs756725793
|
|
NM_024678.6(NARS2):c.727C>T (p.Arg243Ter)
|
rs952741388
|
|
NM_031475.3(ESPN):c.1972G>A (p.Glu658Lys)
|
|
|
NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter)
|
rs1485674839
|
|
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer)
|
rs754472294
|
|
NM_031475.3(ESPN):c.2539AAG[1] (p.Lys848del)
|
rs1569771486
|
|
NM_032119.4(ADGRV1):c.1477C>T (p.Arg493Ter)
|
rs779948710
|
|
NM_032119.4(ADGRV1):c.16368G>C (p.Lys5456Asn)
|
rs2150302151
|
|
NM_033056.4(PCDH15):c.4389del (p.Gln1464fs)
|
rs35296328
|
|
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)
|
rs1233449433
|
|
NM_033109.5(PNPT1):c.137C>G (p.Ala46Gly)
|
rs540498342
|
|
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)
|
rs281874743
|
|
NM_033409.4(SLC52A3):c.704T>C (p.Leu235Pro)
|
|
|
NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp)
|
rs145498634
|
|
NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs)
|
rs1583335192
|
|
NM_080680.3(COL11A2):c.2754del (p.Gly919fs)
|
rs1562336726
|
|
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg)
|
rs550153707
|
|
NM_080680.3(COL11A2):c.3852+1G>T
|
|
|
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)
|
rs121912950
|
|
NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter)
|
rs1404134749
|
|
NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val)
|
rs745434198
|
|
NM_080680.3(COL11A2):c.968dup (p.Ala324fs)
|
rs1583366400
|
|
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)
|
rs1553877946
|
|
NM_130837.3(OPA1):c.1498C>G (p.Arg500Gly)
|
|
|
NM_130837.3(OPA1):c.2803_2807del (p.Phe935fs)
|
|
|
NM_133261.3(GIPC3):c.3_594del (p.Met1fs)
|
|
|
NM_133261.3(GIPC3):c.937T>C (p.Ter313Gln)
|
rs1466835034
|
|
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter)
|
rs757327146
|
|
NM_138691.3(TMC1):c.1209G>A (p.Trp403Ter)
|
rs773851192
|
|
NM_138691.3(TMC1):c.1224+2T>C
|
rs1564555240
|
|
NM_138691.3(TMC1):c.1259G>A (p.Cys420Tyr)
|
rs1564556995
|
|
NM_138691.3(TMC1):c.1363T>C (p.Tyr455His)
|
rs1828278868
|
|
NM_138691.3(TMC1):c.1532C>A (p.Pro511His)
|
rs727503483
|
|
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg)
|
rs121908076
|
|
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn)
|
rs121908072
|
|
NM_138691.3(TMC1):c.1728C>G (p.Asn576Lys)
|
rs761261855
|
|
NM_138691.3(TMC1):c.1750C>T (p.Gln584Ter)
|
|
|
NM_138691.3(TMC1):c.1753_1754insA (p.Gly585fs)
|
rs1828785763
|
|
NM_138691.3(TMC1):c.1763+1G>T
|
rs2118284330
|
|
NM_138691.3(TMC1):c.1788C>A (p.Ser596Arg)
|
rs1290684098
|
|
NM_138691.3(TMC1):c.2002A>G (p.Ser668Gly)
|
rs1828864557
|
|
NM_138691.3(TMC1):c.2035G>A (p.Glu679Lys)
|
rs1828965654
|
|
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile)
|
rs756960425
|
|
NM_138691.3(TMC1):c.64+2T>A
|
|
|
NM_138691.3(TMC1):c.945G>A (p.Trp315Ter)
|
rs1564554255
|
|
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr)
|
rs1952754017
|
|
NM_144670.6(A2ML1):c.10C>T (p.Gln4Ter)
|
rs1409944554
|
|
NM_144670.6(A2ML1):c.4061+1G>C
|
rs202067416
|
|
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)
|
rs727504599
|
|
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs)
|
rs2141700836
|
|
NM_144672.4(OTOA):c.1633_1634del (p.Leu545fs)
|
|
|
NM_144672.4(OTOA):c.1881-2A>G
|
rs2141716542
|
|
NM_144672.4(OTOA):c.1912C>T (p.Gln638Ter)
|
rs1898923522
|
|
NM_144672.4(OTOA):c.2295del (p.Thr766fs)
|
rs774366025
|
|
NM_144672.4(OTOA):c.2301+1G>T
|
rs1567396832
|
|
NM_144672.4(OTOA):c.2352del (p.Thr785fs)
|
|
|
NM_144672.4(OTOA):c.2991A>C (p.Glu997Asp)
|
|
|
NM_144672.4(OTOA):c.562_569dup (p.Phe191fs)
|
|
|
NM_144672.4(OTOA):c.828del (p.Ser277fs)
|
rs751447996
|
|
NM_144672.4(OTOA):c.875A>G (p.Lys292Arg)
|
|
|
NM_147196.3(TMIE):c.122_125dup (p.Pro43fs)
|
rs876661301
|
|
NM_147196.3(TMIE):c.92A>G (p.Glu31Gly)
|
rs1057517839
|
|
NM_153002.3(GPR156):c.1863dup (p.His622fs)
|
|
|
NM_153002.3(GPR156):c.600G>A (p.Thr200=)
|
|
|
NM_153676.4(USH1C):c.1000C>T (p.Gln334Ter)
|
|
|
NM_153676.4(USH1C):c.1018C>T (p.Gln340Ter)
|
|
|
NM_153676.4(USH1C):c.1020-2A>C
|
rs147956944
|
|
NM_153676.4(USH1C):c.1039del (p.Gln347fs)
|
|
|
NM_153676.4(USH1C):c.104+5G>C
|
rs2133927984
|
|
NM_153676.4(USH1C):c.105-2A>G
|
|
|
NM_153676.4(USH1C):c.1086-1G>T
|
|
|
NM_153676.4(USH1C):c.1094_1101dup (p.Glu368fs)
|
|
|
NM_153676.4(USH1C):c.1096del (p.Glu366fs)
|
|
|
NM_153676.4(USH1C):c.110_113del (p.Met37fs)
|
|
|
NM_153676.4(USH1C):c.1121G>A (p.Trp374Ter)
|
|
|
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter)
|
rs1591999307
|
|
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)
|
rs1554960390
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
|
NM_153676.4(USH1C):c.1A>G (p.Met1Val)
|
rs1554965967
|
|
NM_153676.4(USH1C):c.2185-1G>A
|
|
|
NM_153676.4(USH1C):c.2185-2A>G
|
rs1358056232
|
|
NM_153676.4(USH1C):c.2280+2T>C
|
rs1554954681
|
|
NM_153676.4(USH1C):c.2281-1G>A
|
rs1554954574
|
|
NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer)
|
rs1591961566
|
|
NM_153676.4(USH1C):c.2381-2A>G
|
rs1465352266
|
|
NM_153676.4(USH1C):c.2381-7_2381del
|
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter)
|
rs371257969
|
|
NM_153676.4(USH1C):c.2420del (p.Gly807fs)
|
|
|
NM_153676.4(USH1C):c.249-1G>A
|
|
|
NM_153676.4(USH1C):c.2490+1G>T
|
rs1554953746
|
|
NM_153676.4(USH1C):c.2490+1del
|
rs1366154374
|
|
NM_153676.4(USH1C):c.2490+2T>C
|
rs1554953745
|
|
NM_153676.4(USH1C):c.2520C>A (p.Cys840Ter)
|
|
|
NM_153676.4(USH1C):c.2535T>A (p.Tyr845Ter)
|
|
|
NM_153676.4(USH1C):c.2546+1G>A
|
|
|
NM_153676.4(USH1C):c.2546+1G>T
|
rs1554953350
|
|
NM_153676.4(USH1C):c.356_365del (p.Lys119fs)
|
|
|
NM_153676.4(USH1C):c.36+1G>A
|
rs1403777293
|
|
NM_153676.4(USH1C):c.37-1G>C
|
|
|
NM_153676.4(USH1C):c.388-1G>A
|
rs1364331716
|
|
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys)
|
rs1565058763
|
|
NM_153676.4(USH1C):c.541del (p.Thr181fs)
|
|
|
NM_153676.4(USH1C):c.579+1G>A
|
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
NM_153676.4(USH1C):c.580-2A>T
|
rs1850678559
|
|
NM_153676.4(USH1C):c.674+1G>A
|
rs775496999
|
|
NM_153676.4(USH1C):c.674+1del
|
rs1554961872
|
|
NM_153676.4(USH1C):c.674+2T>G
|
rs1298596518
|
|
NM_153676.4(USH1C):c.70del (p.Asp24fs)
|
|
|
NM_153676.4(USH1C):c.748_759+5del
|
rs1355262412
|
|
NM_153676.4(USH1C):c.769C>T (p.Gln257Ter)
|
|
|
NM_153676.4(USH1C):c.819+1G>A
|
rs1554961152
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153676.4(USH1C):c.877-2A>G
|
|
|
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)
|
|
|
NM_153700.2(STRC):c.1469T>C (p.Leu490Pro)
|
|
|
NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)
|
|
|
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)
|
rs376104748
|
|
NM_153700.2(STRC):c.4564G>T (p.Gly1522Ter)
|
rs763904943
|
|
NM_153700.2(STRC):c.4701+1G>A
|
rs199839039
|
|
NM_153700.2(STRC):c.64+1_3138+1del
|
|
|
NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp)
|
rs730882203
|
|
NM_173477.5(USH1G):c.314C>T (p.Ala105Val)
|
rs1567940507
|
|
NM_173477.5(USH1G):c.812del (p.Pro271fs)
|
rs1567939793
|
|
NM_173477.5(USH1G):c.854dup (p.Ala286fs)
|
rs1567939718
|
|
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)
|
rs1553776135
|
|
NM_174916.3(UBR1):c.1539+2T>G
|
rs2033511910
|
|
NM_174916.3(UBR1):c.1912-6T>G
|
rs1131691523
|
|
NM_174916.3(UBR1):c.4745del (p.Asn1582fs)
|
|
|
NM_174916.3(UBR1):c.529-13G>A
|
rs1265375100
|
|
NM_177398.4(LMX1A):c.331del (p.Gln111fs)
|
rs2102637875
|
|
NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter)
|
|
|
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val)
|
rs1060499810
|
|
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer)
|
rs779841884
|
|
NM_182548.4(LHFPL5):c.504C>G (p.Tyr168Ter)
|
rs1389821363
|
|
NM_194248.2(OTOF):c.[3928_3930dupAAG];[5098G>C]
|
|
|
NM_194248.3(OTOF):c.1172del (p.Lys391fs)
|
rs483353050
|
|
NM_194248.3(OTOF):c.1432T>C (p.Trp478Arg)
|
|
|
NM_194248.3(OTOF):c.1493A>C (p.Gln498Pro)
|
|
|
NM_194248.3(OTOF):c.1535C>T (p.Thr512Ile)
|
|
|
NM_194248.3(OTOF):c.1539_1554del (p.His513fs)
|
|
|
NM_194248.3(OTOF):c.153_159del (p.Val52fs)
|
|
|
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro)
|
rs1558490542
|
|
NM_194248.3(OTOF):c.1804-2A>G
|
rs2148056311
|
|
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp)
|
rs1558488902
|
|
NM_194248.3(OTOF):c.1912+5G>C
|
rs2148056188
|
|
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter)
|
rs200864338
|
|
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)
|
rs80356590
|
|
NM_194248.3(OTOF):c.2214+5G>C
|
|
|
NM_194248.3(OTOF):c.2215-1G>C
|
|
|
NM_194248.3(OTOF):c.2406+2dup
|
rs2148051770
|
|
NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup)
|
rs2148050495
|
|
NM_194248.3(OTOF):c.2656del (p.Val886fs)
|
|
|
NM_194248.3(OTOF):c.2677-2A>G
|
rs1057518840
|
|
NM_194248.3(OTOF):c.2688del (p.Lys896fs)
|
|
|
NM_194248.3(OTOF):c.2781C>A (p.Cys927Ter)
|
|
|
NM_194248.3(OTOF):c.2901C>G (p.Tyr967Ter)
|
|
|
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del)
|
rs1423777622
|
|
NM_194248.3(OTOF):c.3179_3183dup (p.Glu1062fs)
|
rs773708510
|
|
NM_194248.3(OTOF):c.3321dup (p.Ile1108fs)
|
|
|
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs)
|
rs1558480402
|
|
NM_194248.3(OTOF):c.3409-2A>C
|
rs201613240
|
|
NM_194248.3(OTOF):c.3674C>G (p.Ser1225Cys)
|
|
|
NM_194248.3(OTOF):c.4228-1G>T
|
|
|
NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs)
|
rs1558472243
|
|
NM_194248.3(OTOF):c.4493T>A (p.Val1498Glu)
|
|
|
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
|
|
|
NM_194248.3(OTOF):c.4791del (p.Tyr1598fs)
|
|
|
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter)
|
rs143939430
|
|
NM_194248.3(OTOF):c.4847T>C (p.Leu1616Pro)
|
|
|
NM_194248.3(OTOF):c.4903A>T (p.Arg1635Ter)
|
|
|
NM_194248.3(OTOF):c.5000C>A (p.Ala1667Asp)
|
|
|
NM_194248.3(OTOF):c.5104-1G>T
|
rs2148023761
|
|
NM_194248.3(OTOF):c.5108_5114delinsTCTTCCTGGG (p.Arg1703_Glu1705delinsLeuPheLeuGly)
|
rs2148023717
|
|
NM_194248.3(OTOF):c.5169_5170del (p.Ile1724fs)
|
|
|
NM_194248.3(OTOF):c.5179del (p.Arg1727fs)
|
rs1664580718
|
|
NM_194248.3(OTOF):c.5193-1G>A
|
rs111033373
|
|
NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del)
|
rs2148021052
|
|
NM_194248.3(OTOF):c.5291+1G>T
|
|
|
NM_194248.3(OTOF):c.5330A>G (p.Asp1777Gly)
|
|
|
NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp)
|
rs2148020419
|
|
NM_194248.3(OTOF):c.5534-2A>G
|
rs1664440809
|
|
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp)
|
rs2148018483
|
|
NM_194248.3(OTOF):c.5666G>C (p.Trp1889Ser)
|
|
|
NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter)
|
|
|
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val)
|
rs1558464965
|
|
NM_194248.3(OTOF):c.5780C>A (p.Ala1927Asp)
|
|
|
NM_194248.3(OTOF):c.5782C>T (p.Arg1928Cys)
|
|
|
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)
|
rs397515609
|
|
NM_194248.3(OTOF):c.669del (p.Ala224fs)
|
rs2148078546
|
|
NM_194248.3(OTOF):c.764A>C (p.Gln255Pro)
|
|
|
NM_194248.3(OTOF):c.897+1G>T
|
rs483353049
|
|
NM_194323.3(OTOF):c.3624del (p.Leu1209fs)
|
rs727505359
|
|
NM_198999.3(SLC26A5):c.2146del (p.Arg716fs)
|
|
|
NM_199280.4(TOGARAM2):c.1543C>T (p.Gln515Ter)
|
|
|
NM_206933.4(USH2A):c.10724G>T (p.Cys3575Phe)
|
|
|
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)
|
rs767797828
|
|
NM_206933.4(USH2A):c.4945G>C (p.Gly1649Arg)
|
|
|
NM_206933.4(USH2A):c.7120+1475A>G
|
|
|
NM_207034.3(EDN3):c.293C>T (p.Thr98Met)
|
rs745795470
|
|