NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00027
|
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00021
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)
|
rs137852994
|
0.00015
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
|
rs104894317
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)
|
rs774312182
|
0.00011
|
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)
|
rs377480477
|
0.00011
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)
|
rs111033302
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter)
|
rs727503444
|
0.00007
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)
|
rs61753184
|
0.00006
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
|
rs111033316
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)
|
rs587783211
|
0.00006
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)
|
rs62645917
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)
|
rs786204421
|
0.00004
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter)
|
rs140602858
|
0.00004
|
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter)
|
rs199910503
|
0.00004
|
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)
|
rs199422185
|
0.00004
|
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter)
|
rs587783295
|
0.00004
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)
|
rs61753256
|
0.00003
|
NM_000372.5(TYR):c.533G>A (p.Trp178Ter)
|
rs61754360
|
0.00003
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
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_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_018136.5(ASPM):c.4422G>A (p.Trp1474Ter)
|
rs147622433
|
0.00003
|
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter)
|
rs749702843
|
0.00003
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)
|
rs111033233
|
0.00002
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
NM_000372.5(TYR):c.1037-1G>A
|
rs61754382
|
0.00002
|
NM_000372.5(TYR):c.1037-2A>G
|
rs748901196
|
0.00002
|
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)
|
rs28940877
|
0.00002
|
NM_000441.2(SLC26A4):c.1341+1G>C
|
rs376653349
|
0.00002
|
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
|
rs111033254
|
0.00002
|
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)
|
rs368119540
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs)
|
rs587783220
|
0.00002
|
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)
|
rs587783227
|
0.00002
|
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu)
|
rs755694066
|
0.00002
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000023.4(SGCA):c.157+1G>A
|
rs113109898
|
0.00001
|
NM_000023.4(SGCA):c.313-2A>G
|
rs1057516650
|
0.00001
|
NM_000023.4(SGCA):c.530del (p.Ser177fs)
|
rs886041387
|
0.00001
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)
|
rs1591310948
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
NM_000317.3(PTS):c.186+1G>T
|
rs1256819927
|
0.00001
|
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)
|
rs121909295
|
0.00001
|
NM_000372.5(TYR):c.1036+1G>A
|
rs763715899
|
0.00001
|
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)
|
rs1013801316
|
0.00001
|
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)
|
rs61754392
|
0.00001
|
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)
|
rs28940879
|
0.00001
|
NM_000372.5(TYR):c.61C>T (p.Pro21Ser)
|
rs61753178
|
0.00001
|
NM_000372.5(TYR):c.658C>T (p.Gln220Ter)
|
rs797046083
|
0.00001
|
NM_000372.5(TYR):c.74dup (p.Ser26fs)
|
rs1057518763
|
0.00001
|
NM_000372.5(TYR):c.880G>A (p.Glu294Lys)
|
rs757754120
|
0.00001
|
NM_000441.2(SLC26A4):c.1614+1G>A
|
rs111033312
|
0.00001
|
NM_000441.2(SLC26A4):c.1615-2A>G
|
rs758823761
|
0.00001
|
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
|
rs200455203
|
0.00001
|
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)
|
rs752807925
|
0.00001
|
NM_000441.2(SLC26A4):c.2319+1G>A
|
rs542079779
|
0.00001
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)
|
rs397516430
|
0.00001
|
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)
|
rs768245266
|
0.00001
|
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)
|
rs779357448
|
0.00001
|
NM_001378454.1(ALMS1):c.11668+1G>A
|
rs1181992959
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
NM_002485.5(NBN):c.123del (p.Ser42fs)
|
rs587781891
|
0.00001
|
NM_002485.5(NBN):c.1716dup (p.Glu573fs)
|
rs1060503483
|
0.00001
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)
|
rs1554568427
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)
|
rs779098734
|
0.00001
|
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)
|
rs786205135
|
0.00001
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter)
|
rs774906736
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)
|
rs755824618
|
0.00001
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)
|
rs121434376
|
0.00001
|
NM_018136.5(ASPM):c.10055_10056insGG (p.Ile3352fs)
|
rs754767041
|
0.00001
|
NM_018136.5(ASPM):c.1789C>T (p.Arg597Ter)
|
rs759485449
|
0.00001
|
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)
|
rs774338373
|
0.00001
|
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)
|
rs199422161
|
0.00001
|
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter)
|
rs751326753
|
0.00001
|
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter)
|
rs199422168
|
0.00001
|
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter)
|
rs769364943
|
0.00001
|
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs)
|
rs587783283
|
0.00001
|
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter)
|
rs587783292
|
0.00001
|
NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter)
|
rs77424753
|
0.00001
|
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter)
|
rs199422195
|
0.00001
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter)
|
rs769443188
|
0.00001
|
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)
|
rs1057519193
|
0.00001
|
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)
|
rs1358947010
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
NM_206933.4(USH2A):c.1841-2A>G
|
rs397518003
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)
|
rs781223647
|
0.00001
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)
|
rs727503736
|
0.00001
|
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782
|
0.00001
|
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)
|
rs1394737087
|
0.00001
|
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)
|
rs397518011
|
0.00001
|
NM_206933.4(USH2A):c.3317-2A>G
|
rs2034951427
|
0.00001
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)
|
rs769198746
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)
|
rs751130485
|
0.00001
|
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)
|
rs111033386
|
0.00001
|
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)
|
rs200712760
|
0.00001
|
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)
|
rs760302201
|
0.00001
|
NM_206933.4(USH2A):c.9056-2A>G
|
rs754970095
|
0.00001
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
NM_000023.4(SGCA):c.168del (p.Ala57fs)
|
rs1555568264
|
|
NM_000023.4(SGCA):c.203del (p.Gly68fs)
|
rs1567739228
|
|
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)
|
rs1555568518
|
|
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)
|
rs752640127
|
|
NM_000023.4(SGCA):c.391del (p.Leu131fs)
|
rs144356125
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)
|
rs1567741398
|
|
NM_000023.4(SGCA):c.747+1G>A
|
rs886043392
|
|
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs)
|
rs1905254738
|
|
NM_000070.3(CAPN3):c.801+1G>A
|
rs1459288402
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)
|
rs1192400891
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
NM_000277.3(PAH):c.931_932del (p.Leu311fs)
|
rs281865430
|
|
NM_000317.3(PTS):c.118_121del (p.Phe40fs)
|
rs747260038
|
|
NM_000317.3(PTS):c.166G>A (p.Val56Met)
|
rs104894277
|
|
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
|
rs104894276
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)
|
rs778760498
|
|
NM_000372.5(TYR):c.1185-2A>G
|
rs1289685376
|
|
NM_000372.5(TYR):c.1267del (p.Glu423fs)
|
rs1565423674
|
|
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)
|
rs104894318
|
|
NM_000372.5(TYR):c.1456del (p.Ala486fs)
|
rs1590909462
|
|
NM_000372.5(TYR):c.286dup (p.Met96fs)
|
rs61753190
|
|
NM_000372.5(TYR):c.338_339del (p.Thr113fs)
|
rs61753254
|
|
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs)
|
rs1565386582
|
|
NM_000372.5(TYR):c.391_393del (p.Lys131del)
|
rs1413017181
|
|
NM_000372.5(TYR):c.572del (p.Gly191fs)
|
rs61754361
|
|
NM_000372.5(TYR):c.655G>A (p.Glu219Lys)
|
rs747995722
|
|
NM_000372.5(TYR):c.714G>A (p.Trp238Ter)
|
rs1565386964
|
|
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)
|
rs61754368
|
|
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter)
|
rs765329261
|
|
NM_000372.5(TYR):c.895C>A (p.Arg299Ser)
|
rs61754374
|
|
NM_000372.5(TYR):c.929dup (p.Arg311fs)
|
rs281865527
|
|
NM_000372.5(TYR):c.976C>T (p.Gln326Ter)
|
rs540911439
|
|
NM_000441.2(SLC26A4):c.1001+1G>T
|
rs80338849
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)
|
rs201562855
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.164+2T>C
|
rs397516420
|
|
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)
|
rs1554360678
|
|
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)
|
rs746427774
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)
|
rs142656144
|
|
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)
|
rs1417146153
|
|
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs)
|
rs876657723
|
|
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)
|
rs1057517303
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)
|
rs1057516658
|
|
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)
|
rs111033380
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)
|
rs111033205
|
|
NM_000441.2(SLC26A4):c.918+1G>T
|
rs111033245
|
|
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter)
|
rs1554357231
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
NM_000492.4(CFTR):c.1911del (p.Gln637fs)
|
rs1554389296
|
|
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)
|
rs121908751
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter)
|
rs397508701
|
|
NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs)
|
rs1180888940
|
|
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)
|
rs1359874667
|
|
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.1155dup (p.Val386fs)
|
rs748513310
|
|
NM_002485.5(NBN):c.115del (p.Gln39fs)
|
rs864622511
|
|
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter)
|
rs1554559323
|
|
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)
|
rs1238152597
|
|
NM_002485.5(NBN):c.1336del (p.Ala446fs)
|
rs1554559083
|
|
NM_002485.5(NBN):c.1366del (p.Arg456fs)
|
rs1554559038
|
|
NM_002485.5(NBN):c.1396dup (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1397+1del
|
rs1060503467
|
|
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)
|
rs1554558613
|
|
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter)
|
rs755805461
|
|
NM_002485.5(NBN):c.1419_1431dup (p.Cys478fs)
|
rs864622333
|
|
NM_002485.5(NBN):c.141_142del (p.Leu48fs)
|
rs750375741
|
|
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)
|
rs587782130
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)
|
rs1554558472
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1651dup (p.Arg551fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs)
|
rs1060503466
|
|
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)
|
rs1178384498
|
|
NM_002485.5(NBN):c.188del (p.Ile63fs)
|
rs876659592
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.210_211del (p.Asp70fs)
|
rs786202494
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
NM_002485.5(NBN):c.212_215del (p.Asn71fs)
|
rs1064795634
|
|
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)
|
rs1064795816
|
|
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer)
|
rs1586108633
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.445del (p.His149fs)
|
rs1554567892
|
|
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs)
|
rs1554566678
|
|
NM_002485.5(NBN):c.55_56del (p.Leu19fs)
|
rs876659305
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
NM_002485.5(NBN):c.589dup (p.Tyr197fs)
|
rs1586088924
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.676del (p.Thr226fs)
|
rs1563561558
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002485.5(NBN):c.737del (p.Gly246fs)
|
rs1811464751
|
|
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)
|
rs864309670
|
|
NM_002485.5(NBN):c.75dup (p.Val26fs)
|
rs1199711768
|
|
NM_002485.5(NBN):c.800dup (p.Thr268fs)
|
rs1554563955
|
|
NM_002485.5(NBN):c.808_809del (p.Val270fs)
|
rs786202490
|
|
NM_002485.5(NBN):c.817dup (p.Thr273fs)
|
rs730881839
|
|
NM_002485.5(NBN):c.83_89del (p.Arg28fs)
|
rs1554569106
|
|
NM_002485.5(NBN):c.872dup (p.Ser292fs)
|
rs1563559078
|
|
NM_002485.5(NBN):c.88_89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.917del (p.Pro306fs)
|
rs1554562185
|
|
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)
|
rs371480039
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002485.5(NBN):c.974del (p.Pro325fs)
|
rs1554562110
|
|
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)
|
rs121908973
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter)
|
rs2128711268
|
|
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser)
|
rs80358278
|
|
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter)
|
rs730880349
|
|
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)
|
rs1360298758
|
|
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)
|
rs1400601705
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)
|
rs1555249555
|
|
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)
|
rs923921184
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
|
rs770901638
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
|
rs1868872666
|
|
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)
|
rs1485209013
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)
|
rs770490672
|
|
NM_014363.6(SACS):c.699del (p.Asp235fs)
|
rs1415870785
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs)
|
rs745775419
|
|
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)
|
rs759213174
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)
|
rs199422137
|
|
NM_018136.5(ASPM):c.1179del (p.Asn394fs)
|
rs199422138
|
|
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs)
|
rs1057518268
|
|
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs)
|
rs1170413397
|
|
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)
|
rs199422147
|
|
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)
|
rs145489194
|
|
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs)
|
rs587783240
|
|
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter)
|
rs137852995
|
|
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)
|
rs1057520873
|
|
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs)
|
rs587783245
|
|
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter)
|
rs199422165
|
|
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter)
|
rs587783247
|
|
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter)
|
rs587783248
|
|
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs)
|
rs886041282
|
|
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter)
|
rs1553223496
|
|
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs)
|
rs199422169
|
|
NM_018136.5(ASPM):c.637del (p.Ile213fs)
|
rs587783258
|
|
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs)
|
rs770540184
|
|
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter)
|
rs1451306414
|
|
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs)
|
rs758549961
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs)
|
rs763800571
|
|
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs)
|
rs587783278
|
|
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter)
|
rs763909256
|
|
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter)
|
rs587783287
|
|
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter)
|
rs1482100822
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer)
|
rs1366021609
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
|
|
|
NM_206933.4(USH2A):c.10388-1G>A
|
rs1553261478
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
|
rs1661659605
|
|
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)
|
rs41314534
|
|
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)
|
rs755804518
|
|
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)
|
rs768062696
|
|
NM_206933.4(USH2A):c.11389+1G>A
|
rs368770647
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
NM_206933.4(USH2A):c.1143+1G>A
|
rs397517974
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)
|
rs727505337
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)
|
rs2037682180
|
|
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)
|
rs397517981
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)
|
rs397517983
|
|
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)
|
rs1415157305
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
NM_206933.4(USH2A):c.13374del (p.Glu4458fs)
|
rs727503715
|
|
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)
|
rs1293619630
|
|
NM_206933.4(USH2A):c.13599del (p.Met4535fs)
|
rs2102664886
|
|
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)
|
rs397517988
|
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
|
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)
|
rs1657036615
|
|
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter)
|
rs1571929573
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer)
|
rs1571701069
|
|
NM_206933.4(USH2A):c.1645-2A>G
|
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
|
rs2037013894
|
|
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952
|
|
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter)
|
rs376674482
|
|
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)
|
rs777629750
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer)
|
rs2036063892
|
|
NM_206933.4(USH2A):c.2809+1G>A
|
rs759433119
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
|
rs2034948574
|
|
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509
|
|
NM_206933.4(USH2A):c.4046del (p.Ser1349fs)
|
rs2034899784
|
|
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)
|
rs397518015
|
|
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)
|
rs1308702971
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter)
|
rs797045113
|
|
NM_206933.4(USH2A):c.4758+1G>A
|
|
|
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)
|
rs2032147505
|
|
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter)
|
rs2102554503
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)
|
rs762837293
|
|
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
|
rs2030619513
|
|
NM_206933.4(USH2A):c.612dup (p.Arg205fs)
|
rs2039614529
|
|
NM_206933.4(USH2A):c.6657+1G>A
|
rs1571876788
|
|
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)
|
rs1667472317
|
|
NM_206933.4(USH2A):c.6905del (p.His2302fs)
|
rs2102458388
|
|
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
|
rs1667316878
|
|
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)
|
rs376983577
|
|
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)
|
rs397518029
|
|
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter)
|
rs2102469649
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)
|
rs1301139848
|
|
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
|
rs1553273330
|
|
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs)
|
rs768367348
|
|
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)
|
rs397518036
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
NM_206933.4(USH2A):c.852_853del
|
rs1188025733
|
|
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter)
|
rs2102450764
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)
|
rs779572631
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
NM_206933.4(USH2A):c.9473del (p.Lys3158fs)
|
rs2102796411
|
|
NM_206933.4(USH2A):c.9538del (p.Cys3180fs)
|
rs36108227
|
|
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter)
|
rs2102778615
|
|
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)
|
rs1571703770
|
|