NM_001384140.1(PCDH15):c.157+59097T>C
|
rs75443986
|
0.09222
|
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)
|
rs61862390
|
0.01583
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00325
|
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=)
|
rs201834743
|
0.00069
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
NM_000260.4(MYO7A):c.5559C>T (p.His1853=)
|
rs373612656
|
0.00049
|
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)
|
rs187165412
|
0.00043
|
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637
|
0.00035
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369
|
0.00029
|
NM_153676.4(USH1C):c.2487C>T (p.Gly829=)
|
rs142801489
|
0.00029
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00026
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00024
|
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)
|
rs369195493
|
0.00019
|
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=)
|
rs377439949
|
0.00016
|
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu)
|
rs148168494
|
0.00014
|
NM_153676.4(USH1C):c.2617G>A (p.Val873Met)
|
rs201533059
|
0.00014
|
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg)
|
rs200304238
|
0.00013
|
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=)
|
rs181126043
|
0.00013
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)
|
rs41298131
|
0.00010
|
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)
|
rs145851144
|
0.00010
|
NM_153676.4(USH1C):c.1414-2_1414-1insCTG
|
rs769675063
|
0.00010
|
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)
|
rs782396605
|
0.00009
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714
|
0.00009
|
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)
|
rs201600193
|
0.00009
|
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln)
|
rs111033224
|
0.00008
|
NM_000260.4(MYO7A):c.2421C>T (p.His807=)
|
rs782218928
|
0.00008
|
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His)
|
rs368705036
|
0.00008
|
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=)
|
rs111033331
|
0.00008
|
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His)
|
rs143538460
|
0.00008
|
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter)
|
rs767767573
|
0.00008
|
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Val472_Ser473insTer)
|
rs781176348
|
0.00007
|
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)
|
rs727503328
|
0.00006
|
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)
|
rs781537330
|
0.00006
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00006
|
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala)
|
rs397517454
|
0.00006
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00006
|
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln)
|
rs371626423
|
0.00006
|
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn)
|
rs397517877
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=)
|
rs199979876
|
0.00005
|
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr)
|
rs377326213
|
0.00005
|
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn)
|
rs544639673
|
0.00005
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_001384140.1(PCDH15):c.4671+1523G>T
|
rs755005336
|
0.00005
|
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala)
|
rs369916141
|
0.00004
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)
|
rs121965085
|
0.00004
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
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.4018G>A (p.Ala1340Thr)
|
rs376291076
|
0.00004
|
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met)
|
rs547006116
|
0.00004
|
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu)
|
rs201321140
|
0.00004
|
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu)
|
rs530520654
|
0.00004
|
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)
|
rs41298133
|
0.00004
|
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu)
|
rs374205826
|
0.00004
|
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln)
|
rs372497947
|
0.00004
|
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile)
|
rs397517875
|
0.00004
|
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys)
|
rs876658111
|
0.00004
|
NM_153676.4(USH1C):c.760-1G>T
|
rs1187887456
|
0.00004
|
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=)
|
rs559209306
|
0.00003
|
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro)
|
rs372188355
|
0.00003
|
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly)
|
rs111033339
|
0.00003
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=)
|
rs727504631
|
0.00003
|
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly)
|
rs781670345
|
0.00003
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys)
|
rs767975012
|
0.00003
|
NM_000260.4(MYO7A):c.593-4G>A
|
rs876657534
|
0.00003
|
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln)
|
rs762258869
|
0.00003
|
NM_000260.4(MYO7A):c.6439-2A>G
|
rs397516330
|
0.00003
|
NM_001384140.1(PCDH15):c.4988_4991dup (p.Met1664fs)
|
rs760669176
|
0.00003
|
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs)
|
rs772393186
|
0.00003
|
NM_153676.4(USH1C):c.1548G>A (p.Pro516=)
|
rs780428813
|
0.00003
|
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser)
|
rs727505247
|
0.00003
|
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr)
|
rs397517878
|
0.00003
|
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)
|
rs782681743
|
0.00002
|
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys)
|
rs782459520
|
0.00002
|
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val)
|
rs782465732
|
0.00002
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390
|
0.00002
|
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)
|
rs369458838
|
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.5824G>T (p.Gly1942Ter)
|
rs111033192
|
0.00002
|
NM_000260.4(MYO7A):c.5857-3C>A
|
rs727505114
|
0.00002
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys)
|
rs782361954
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384140.1(PCDH15):c.4368-3204C>T
|
rs375657329
|
0.00002
|
NM_001384140.1(PCDH15):c.4671+1559C>T
|
rs368397508
|
0.00002
|
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala)
|
rs755487351
|
0.00002
|
NM_033056.4(PCDH15):c.4724_4726dup (p.Ser1575_Gln1576insArg)
|
rs762814533
|
0.00002
|
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter)
|
rs750274894
|
0.00002
|
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val)
|
rs751388655
|
0.00002
|
NM_153676.4(USH1C):c.2418C>T (p.Asn806=)
|
rs397517876
|
0.00002
|
NM_153676.4(USH1C):c.248+1G>A
|
rs1482487617
|
0.00002
|
NM_153676.4(USH1C):c.266G>A (p.Arg89His)
|
rs749647539
|
0.00002
|
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg)
|
rs768207716
|
0.00002
|
NM_153676.4(USH1C):c.388-8T>A
|
rs777486804
|
0.00002
|
NM_153676.4(USH1C):c.497-4G>A
|
rs397517881
|
0.00002
|
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn)
|
rs199537187
|
0.00002
|
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
|
rs397516281
|
0.00001
|
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His)
|
rs397516282
|
0.00001
|
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg)
|
rs878853377
|
0.00001
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511
|
0.00001
|
NM_000260.4(MYO7A):c.133-2A>G
|
rs782064437
|
0.00001
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
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.182C>G (p.Pro61Arg)
|
rs397516289
|
0.00001
|
NM_000260.4(MYO7A):c.1935+1G>C
|
rs1343207038
|
0.00001
|
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)
|
rs782503314
|
0.00001
|
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=)
|
rs367693437
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
NM_000260.4(MYO7A):c.224dup (p.Asp75fs)
|
rs1224819887
|
0.00001
|
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp)
|
rs782174733
|
0.00001
|
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)
|
rs201892914
|
0.00001
|
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)
|
rs1279918132
|
0.00001
|
NM_000260.4(MYO7A):c.285+1G>C
|
rs782661097
|
0.00001
|
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=)
|
rs397516297
|
0.00001
|
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter)
|
rs782131913
|
0.00001
|
NM_000260.4(MYO7A):c.29T>C (p.Val10Ala)
|
rs878853237
|
0.00001
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635
|
0.00001
|
NM_000260.4(MYO7A):c.3375+3G>A
|
rs397516299
|
0.00001
|
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg)
|
rs782313913
|
0.00001
|
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln)
|
rs782140421
|
0.00001
|
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val)
|
rs797044517
|
0.00001
|
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)
|
rs782350886
|
0.00001
|
NM_000260.4(MYO7A):c.3504-1G>C
|
rs1555090171
|
0.00001
|
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)
|
rs782694195
|
0.00001
|
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr)
|
rs1555090442
|
0.00001
|
NM_000260.4(MYO7A):c.3924+1G>C
|
rs1226046110
|
0.00001
|
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)
|
rs766641715
|
0.00001
|
NM_000260.4(MYO7A):c.4153-10C>G
|
rs397516306
|
0.00001
|
NM_000260.4(MYO7A):c.4153-11C>T
|
rs727503330
|
0.00001
|
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)
|
rs397516309
|
0.00001
|
NM_000260.4(MYO7A):c.4569-1G>A
|
rs775792432
|
0.00001
|
NM_000260.4(MYO7A):c.470+1G>A
|
rs797044510
|
0.00001
|
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)
|
rs1199012623
|
0.00001
|
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr)
|
rs111033485
|
0.00001
|
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)
|
rs1472566324
|
0.00001
|
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)
|
rs111033182
|
0.00001
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275
|
0.00001
|
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro)
|
rs1164918878
|
0.00001
|
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)
|
rs1385324903
|
0.00001
|
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met)
|
rs754761542
|
0.00001
|
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)
|
rs878864531
|
0.00001
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
NM_000260.4(MYO7A):c.5637-173C>T
|
rs207472020
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
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.6070C>T (p.Arg2024Ter)
|
rs111033198
|
0.00001
|
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser)
|
rs747131589
|
0.00001
|
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=)
|
rs397516329
|
0.00001
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610
|
0.00001
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
0.00001
|
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter)
|
rs138983888
|
0.00001
|
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)
|
rs781148814
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.3501+13A>G
|
rs727503365
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
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.3983+1G>T
|
rs758921360
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile)
|
rs756490783
|
0.00001
|
NM_001384140.1(PCDH15):c.4211+2T>G
|
rs753832779
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-3207_4368-3204del
|
rs1554821194
|
0.00001
|
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter)
|
rs770416107
|
0.00001
|
NM_001384140.1(PCDH15):c.5106_5109dup (p.Ser1704Ter)
|
rs1198732380
|
0.00001
|
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter)
|
rs1554814611
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln)
|
rs765571023
|
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.1210+5G>A
|
rs372285784
|
0.00001
|
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter)
|
rs1406224812
|
0.00001
|
NM_153676.4(USH1C):c.1531-11A>G
|
rs397517872
|
0.00001
|
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu)
|
rs778703128
|
0.00001
|
NM_153676.4(USH1C):c.1824del (p.Pro609fs)
|
rs1389725640
|
0.00001
|
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val)
|
rs727505187
|
0.00001
|
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp)
|
rs375741564
|
0.00001
|
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter)
|
rs369369849
|
0.00001
|
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)
|
rs397517874
|
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.2547-1G>T
|
rs571304936
|
0.00001
|
NM_153676.4(USH1C):c.2656-1G>A
|
rs747133793
|
0.00001
|
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)
|
rs1317951509
|
0.00001
|
NM_153676.4(USH1C):c.440A>G (p.His147Arg)
|
rs777591673
|
0.00001
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
0.00001
|
NM_153676.4(USH1C):c.582C>T (p.Gly194=)
|
rs397517882
|
0.00001
|
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr)
|
rs372789934
|
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_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094
|
|
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val)
|
rs782728522
|
|
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val)
|
rs1555067608
|
|
NM_000260.4(MYO7A):c.117_132+6del
|
rs1555051567
|
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)
|
rs1297886521
|
|
NM_000260.4(MYO7A):c.1200+1G>A
|
rs397516283
|
|
NM_000260.4(MYO7A):c.133-2A>C
|
rs782064437
|
|
NM_000260.4(MYO7A):c.133-7_146dup
|
rs1555054558
|
|
NM_000260.4(MYO7A):c.1343+1G>A
|
rs914189193
|
|
NM_000260.4(MYO7A):c.1344-2A>G
|
rs111033415
|
|
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)
|
rs1269622956
|
|
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr)
|
rs397516286
|
|
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)
|
rs782023308
|
|
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del)
|
rs1555070062
|
|
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup)
|
rs1555070084
|
|
NM_000260.4(MYO7A):c.1691-2A>G
|
rs1555072299
|
|
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro)
|
rs397516287
|
|
NM_000260.4(MYO7A):c.1798-1G>A
|
rs1555076948
|
|
NM_000260.4(MYO7A):c.1798-3C>G
|
rs1555076939
|
|
NM_000260.4(MYO7A):c.18+2T>A
|
rs564622720
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.19-1G>A
|
rs111033426
|
|
NM_000260.4(MYO7A):c.19-2A>G
|
rs1555051384
|
|
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)
|
rs878853236
|
|
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del)
|
rs1555054736
|
|
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs)
|
rs1555080760
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.2283-2_2293del
|
rs1555082041
|
|
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter)
|
rs1555082145
|
|
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys)
|
rs797044493
|
|
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro)
|
rs397516296
|
|
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu)
|
rs199979876
|
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032
|
|
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)
|
rs111033233
|
|
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu)
|
rs397516298
|
|
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Phe1009_Gln1010insLeuHisProValVal)
|
rs782367511
|
|
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del)
|
rs1180304045
|
|
NM_000260.4(MYO7A):c.3109-27_3109-7dup
|
rs1555085333
|
|
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer)
|
rs1555061466
|
|
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys)
|
rs1555061483
|
|
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.3546C>A (p.Asn1182Lys)
|
rs1555090294
|
|
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile)
|
rs1555090314
|
|
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)
|
rs1253943370
|
|
NM_000260.4(MYO7A):c.3631-1G>C
|
rs1555090885
|
|
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser)
|
rs775908821
|
|
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)
|
rs1057517857
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347
|
|
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs)
|
rs1555091636
|
|
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=)
|
rs1349274983
|
|
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu)
|
rs1555061692
|
|
NM_000260.4(MYO7A):c.397C>G (p.His133Asp)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del)
|
rs1555092931
|
|
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs)
|
rs1555092993
|
|
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs)
|
rs1555093028
|
|
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser)
|
rs763469001
|
|
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del)
|
rs1437625274
|
|
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser)
|
rs111534474
|
|
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs)
|
rs1480697910
|
|
NM_000260.4(MYO7A):c.4153-7C>A
|
rs369489756
|
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377
|
|
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)
|
rs1555095933
|
|
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs)
|
rs1555096070
|
|
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs)
|
rs1555096223
|
|
NM_000260.4(MYO7A):c.4338GAG[1] (p.Arg1448del)
|
rs1432069074
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs)
|
rs1555100200
|
|
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.4837_4839dup (p.Asp1613dup)
|
rs1555100610
|
|
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.5013del (p.Thr1672fs)
|
rs1555102041
|
|
NM_000260.4(MYO7A):c.5043+1G>T
|
rs1555102147
|
|
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.52C>T (p.Gln18Ter)
|
rs1555051455
|
|
NM_000260.4(MYO7A):c.5481-1G>C
|
rs1555105118
|
|
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs)
|
rs1555105135
|
|
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp)
|
rs748080151
|
|
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs)
|
rs1555105202
|
|
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer)
|
rs1299898646
|
|
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu)
|
rs1555106562
|
|
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile)
|
rs1188616455
|
|
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs)
|
rs1555106609
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs)
|
rs1397834886
|
|
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs)
|
rs1555107555
|
|
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)
|
rs397516326
|
|
NM_000260.4(MYO7A):c.6051+1G>A
|
rs1403288739
|
|
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
|
rs876657655
|
|
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)
|
rs1060499801
|
|
NM_000260.4(MYO7A):c.6238-2A>C
|
rs1555109612
|
|
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)
|
rs773945008
|
|
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu)
|
rs1555109788
|
|
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala)
|
rs1555109806
|
|
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs)
|
rs1555110680
|
|
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs)
|
rs1555111077
|
|
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly)
|
rs1003695470
|
|
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)
|
rs397516332
|
|
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs)
|
rs1555111501
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.736-3C>T
|
rs1555063792
|
|
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
|
rs782252317
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
NM_001384140.1(PCDH15):c.-5AGA[1] (p.Met1del)
|
rs1555135527
|
|
NM_001384140.1(PCDH15):c.1305+1G>A
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1G>C
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1del
|
rs1554833699
|
|
NM_001384140.1(PCDH15):c.139del (p.Asp47fs)
|
rs1555032952
|
|
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser)
|
rs1196401374
|
|
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter)
|
rs1168400018
|
|
NM_001384140.1(PCDH15):c.157+1G>C
|
rs1057516770
|
|
NM_001384140.1(PCDH15):c.158-16930T>C
|
rs207470941
|
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
|
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs)
|
rs1057516892
|
|
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer)
|
rs1554816541
|
|
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)
|
rs397517451
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs)
|
rs1057517150
|
|
NM_001384140.1(PCDH15):c.1785-2A>C
|
rs1057516474
|
|
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter)
|
rs1057517443
|
|
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261
|
|
NM_001384140.1(PCDH15):c.1917+2T>C
|
rs1554806149
|
|
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn)
|
rs1455035148
|
|
NM_001384140.1(PCDH15):c.1997+1G>T
|
rs763797356
|
|
NM_001384140.1(PCDH15):c.1998-2A>G
|
rs397517452
|
|
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val)
|
rs1040514625
|
|
NM_001384140.1(PCDH15):c.2047C>T (p.Arg683Cys)
|
rs573043647
|
|
NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter)
|
rs1554956088
|
|
NM_001384140.1(PCDH15):c.2091+2T>C
|
rs1554956023
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)
|
rs757027638
|
|
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)
|
rs201328768
|
|
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)
|
rs143842048
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.2869-1G>T
|
rs1554883705
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.299del (p.Gly100fs)
|
rs1554940316
|
|
NM_001384140.1(PCDH15):c.29del (p.Cys10fs)
|
rs1555135419
|
|
NM_001384140.1(PCDH15):c.3023del (p.Ala1008fs)
|
rs1057517284
|
|
NM_001384140.1(PCDH15):c.3082del (p.His1028fs)
|
rs1057517325
|
|
NM_001384140.1(PCDH15):c.3122+2T>A
|
rs1554882546
|
|
NM_001384140.1(PCDH15):c.3123-1G>A
|
rs1554873550
|
|
NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs)
|
rs1057516974
|
|
NM_001384140.1(PCDH15):c.3233-2A>G
|
rs1554872194
|
|
NM_001384140.1(PCDH15):c.323del (p.Pro108fs)
|
rs1554934073
|
|
NM_001384140.1(PCDH15):c.333dup (p.His112fs)
|
rs1057516992
|
|
NM_001384140.1(PCDH15):c.3341del (p.Val1114fs)
|
rs1057516656
|
|
NM_001384140.1(PCDH15):c.3374-1G>T
|
rs1554852472
|
|
NM_001384140.1(PCDH15):c.3416ATC[1] (p.His1140del)
|
rs1554852410
|
|
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663
|
|
NM_001384140.1(PCDH15):c.3501+1G>T
|
rs1402893508
|
|
NM_001384140.1(PCDH15):c.3502-2A>G
|
rs1554836566
|
|
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)
|
rs1057517264
|
|
NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs)
|
rs1057516268
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs)
|
rs1554833314
|
|
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs)
|
rs1554833249
|
|
NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs)
|
rs1554833242
|
|
NM_001384140.1(PCDH15):c.3806+1G>C
|
rs1554833227
|
|
NM_001384140.1(PCDH15):c.3862T>C (p.Ser1288Pro)
|
rs1554827269
|
|
NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs)
|
rs1057516780
|
|
NM_001384140.1(PCDH15):c.3983+2dup
|
rs1554827124
|
|
NM_001384140.1(PCDH15):c.3984-1G>C
|
rs1057520709
|
|
NM_001384140.1(PCDH15):c.3984-2A>G
|
rs1554824185
|
|
NM_001384140.1(PCDH15):c.4006_4008dup (p.Asp1336dup)
|
rs1554824158
|
|
NM_001384140.1(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del)
|
rs1394411772
|
|
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp)
|
rs752371584
|
|
NM_001384140.1(PCDH15):c.4147del (p.Ile1383fs)
|
rs1554824058
|
|
NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs)
|
rs1057517182
|
|
NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs)
|
rs1057516821
|
|
NM_001384140.1(PCDH15):c.4211+1G>A
|
rs1554823229
|
|
NM_001384140.1(PCDH15):c.4211+1del
|
rs1554823231
|
|
NM_001384140.1(PCDH15):c.4211+2dup
|
rs1057517419
|
|
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)
|
rs1057516472
|
|
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs)
|
rs1554822897
|
|
NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs)
|
rs1554822891
|
|
NM_001384140.1(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del)
|
rs1296979751
|
|
NM_001384140.1(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup)
|
rs1327987212
|
|
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[9] (p.Pro1440_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs)
|
rs1057516351
|
|
NM_001384140.1(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup)
|
rs1554822754
|
|
NM_001384140.1(PCDH15):c.4367+1G>A
|
rs1057516613
|
|
NM_001384140.1(PCDH15):c.4367+2T>C
|
rs1554822703
|
|
NM_001384140.1(PCDH15):c.4368-1896_4368-1893delinsT
|
rs1554819686
|
|
NM_001384140.1(PCDH15):c.4368-3142TCTTT[3]
|
rs1452730552
|
|
NM_001384140.1(PCDH15):c.4368-3205G>A
|
rs776152870
|
|
NM_001384140.1(PCDH15):c.4368-3205del
|
rs1554821197
|
|
NM_001384140.1(PCDH15):c.4504G>A (p.Glu1502Lys)
|
rs1554816509
|
|
NM_001384140.1(PCDH15):c.4603C>A (p.Pro1535Thr)
|
rs1554816211
|
|
NM_001384140.1(PCDH15):c.4607C>T (p.Pro1536Leu)
|
rs1554816210
|
|
NM_001384140.1(PCDH15):c.4618G>T (p.Glu1540Ter)
|
rs1554816196
|
|
NM_001384140.1(PCDH15):c.4645_4656del (p.Ala1549_Glu1552del)
|
rs1554816165
|
|
NM_001384140.1(PCDH15):c.4671+1009G>A
|
rs1554815909
|
|
NM_001384140.1(PCDH15):c.4671+1077_4671+1082del
|
rs1588876049
|
|
NM_001384140.1(PCDH15):c.4671+1257_4671+1258del
|
rs1554815781
|
|
NM_001384140.1(PCDH15):c.4671+1297_4671+1300dup
|
rs1343032451
|
|
NM_001384140.1(PCDH15):c.4671+1355_4671+1359dup
|
rs1588874677
|
|
NM_001384140.1(PCDH15):c.4671+1403GAG[5]
|
rs1272584101
|
|
NM_001384140.1(PCDH15):c.4671+1412G>T
|
rs1467453189
|
|
NM_001384140.1(PCDH15):c.4671+1420del
|
rs778088114
|
|
NM_001384140.1(PCDH15):c.4671+1511_4671+1519del
|
rs1554815654
|
|
NM_001384140.1(PCDH15):c.4671+1550C>T
|
rs765589050
|
|
NM_001384140.1(PCDH15):c.4671+1577GAA[3]
|
rs774006219
|
|
NM_001384140.1(PCDH15):c.4671+1617_4671+1637del
|
rs769671738
|
|
NM_001384140.1(PCDH15):c.4671+1708_4671+1711dup
|
rs1554815534
|
|
NM_001384140.1(PCDH15):c.4672-1648_4672-1644dup
|
rs1554815468
|
|
NM_001384140.1(PCDH15):c.4672-1662del
|
rs1554815484
|
|
NM_001384140.1(PCDH15):c.4672-1666G>T
|
rs1297423576
|
|
NM_001384140.1(PCDH15):c.4672-1709_4672-1706dup
|
rs1554815527
|
|
NM_001384140.1(PCDH15):c.4672-2A>G
|
rs1554814991
|
|
NM_001384140.1(PCDH15):c.4688_4691dup (p.Lys1565fs)
|
rs1589057333
|
|
NM_001384140.1(PCDH15):c.4722del (p.Ser1575fs)
|
rs778963761
|
|
NM_001384140.1(PCDH15):c.4729_4734dup (p.Thr1577_Gly1578dup)
|
rs1554814938
|
|
NM_001384140.1(PCDH15):c.4739_4742dup (p.Ser1581fs)
|
rs1554814927
|
|
NM_001384140.1(PCDH15):c.4828_4835del (p.Ser1610fs)
|
rs750833316
|
|
NM_001384140.1(PCDH15):c.4866_4869dup (p.Lys1624fs)
|
rs757520086
|
|
NM_001384140.1(PCDH15):c.4914del (p.Asp1639fs)
|
rs1554814800
|
|
NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup)
|
rs1554814729
|
|
NM_001384140.1(PCDH15):c.5082_5089del (p.Ser1694fs)
|
rs1554814684
|
|
NM_001384140.1(PCDH15):c.5084_5085del (p.Thr1695fs)
|
rs1320916581
|
|
NM_001384140.1(PCDH15):c.5092C>T (p.Gln1698Ter)
|
rs1554814683
|
|
NM_001384140.1(PCDH15):c.5108_5111dup (p.Ser1704fs)
|
rs1554814669
|
|
NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del)
|
rs1554814635
|
|
NM_001384140.1(PCDH15):c.594+1G>T
|
rs1057516470
|
|
NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter)
|
rs1554903979
|
|
NM_001384140.1(PCDH15):c.705+1G>A
|
rs1554903842
|
|
NM_001384140.1(PCDH15):c.705+2_705+3insTT
|
rs1554903836
|
|
NM_001384140.1(PCDH15):c.803G>A (p.Cys268Tyr)
|
rs1283739647
|
|
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter)
|
rs903145299
|
|
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg)
|
rs138744579
|
|
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs)
|
rs1057517048
|
|
NM_001384140.1(PCDH15):c.92-515T>G
|
rs1283842168
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_005709.4(USH1C):c.1284+6880del
|
rs745622612
|
|
NM_033056.4(PCDH15):c.4368-15_4368-2del
|
rs1057516560
|
|
NM_033056.4(PCDH15):c.4368-1_4369dup
|
rs1554821139
|
|
NM_033056.4(PCDH15):c.4368-2A>T
|
rs989521806
|
|
NM_033056.4(PCDH15):c.4368-3_4379dup
|
rs1554821131
|
|
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter)
|
rs1033803342
|
|
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup)
|
rs1554821093
|
|
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs)
|
rs749884609
|
|
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs)
|
rs767621707
|
|
NM_033056.4(PCDH15):c.4435CAA[1] (p.Gln1480del)
|
rs1358121247
|
|
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs)
|
rs1554820916
|
|
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs)
|
rs1233449433
|
|
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs)
|
rs1554820902
|
|
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs)
|
rs1554820894
|
|
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs)
|
rs1554820891
|
|
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs)
|
rs771473483
|
|
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs)
|
rs1554820847
|
|
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs)
|
rs1363726588
|
|
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup)
|
rs1554820809
|
|
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs)
|
rs1554820749
|
|
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter)
|
rs758204385
|
|
NM_033056.4(PCDH15):c.4733_4736dup (p.Leu1580fs)
|
rs770063261
|
|
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs)
|
rs1554820712
|
|
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer)
|
rs1554820690
|
|
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup)
|
rs1554820687
|
|
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter)
|
rs1554820663
|
|
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs)
|
rs1554820651
|
|
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter)
|
rs1554820648
|
|
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs)
|
rs1554820630
|
|
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs)
|
rs1554820628
|
|
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup)
|
rs1554820580
|
|
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs)
|
rs1240582095
|
|
NM_033056.4(PCDH15):c.4895_4897dup (p.Asn1632_Leu1633insTyr)
|
rs1554820541
|
|
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup)
|
rs750133663
|
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806
|
|
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs)
|
rs780945310
|
|
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter)
|
rs1484672299
|
|
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs)
|
rs1554820498
|
|
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val)
|
rs141103437
|
|
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter)
|
rs1554820445
|
|
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup)
|
rs1554820428
|
|
NM_033056.4(PCDH15):c.4970_4971del (p.Ser1657fs)
|
rs1491078644
|
|
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter)
|
rs902963615
|
|
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs)
|
rs1554820394
|
|
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs)
|
rs775238614
|
|
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs)
|
rs1554820378
|
|
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup)
|
rs1554820353
|
|
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs)
|
rs773160902
|
|
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs)
|
rs1554820332
|
|
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter)
|
rs1554820318
|
|
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del)
|
rs1554820270
|
|
NM_033056.4(PCDH15):c.5136_5139dup (p.Arg1714delinsLeuTer)
|
rs1554820255
|
|
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs)
|
rs1554820230
|
|
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter)
|
rs1554820212
|
|
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs)
|
rs1554820145
|
|
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del)
|
rs1554820140
|
|
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup)
|
rs756858099
|
|
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del)
|
rs752658191
|
|
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del)
|
rs1554820050
|
|
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del)
|
rs957797299
|
|
NM_033056.4(PCDH15):c.5272CCT[1] (p.Pro1759_Pro1760del)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5272CCT[4] (p.Pro1760dup)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs)
|
rs1554820127
|
|
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)
|
rs373916538
|
|
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup)
|
rs557936064
|
|
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del)
|
rs397517466
|
|
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del)
|
rs1554820073
|
|
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del)
|
rs1415161284
|
|
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs)
|
rs1338600699
|
|
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs)
|
rs1554820022
|
|
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs)
|
rs1554820009
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs)
|
rs1554819982
|
|
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs)
|
rs1554819970
|
|
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs)
|
rs1376879405
|
|
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs)
|
rs1554819957
|
|
NM_033056.4(PCDH15):c.5363TTCCTC[3] (p.1788LP[3])
|
rs779691085
|
|
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs)
|
rs753690225
|
|
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs)
|
rs1554819925
|
|
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del)
|
rs1554819833
|
|
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del)
|
rs764759018
|
|
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del)
|
rs1554819787
|
|
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del)
|
rs763534924
|
|
NM_033056.4(PCDH15):c.5513_5514del (p.Thr1838fs)
|
rs1554819767
|
|
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs)
|
rs1554819761
|
|
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=)
|
rs111033445
|
|
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter)
|
rs371269732
|
|
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs)
|
rs1554819653
|
|
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs)
|
rs1418472770
|
|
NM_033056.4(PCDH15):c.5632_5633del (p.Glu1878fs)
|
rs794727570
|
|
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)
|
rs1287068204
|
|
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter)
|
rs1554819599
|
|
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs)
|
rs1554819570
|
|
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs)
|
rs1554819558
|
|
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter)
|
rs780553426
|
|
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)
|
rs568470164
|
|
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del)
|
rs1554819513
|
|
NM_033056.4(PCDH15):c.5753del (p.Met1918fs)
|
rs1554819525
|
|
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs)
|
rs755876430
|
|
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs)
|
rs1554819488
|
|
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs)
|
rs1554819493
|
|
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup)
|
rs750168790
|
|
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs)
|
rs1368908688
|
|
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs)
|
rs757543551
|
|
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs)
|
rs1554819436
|
|
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala)
|
rs876658109
|
|
NM_153676.4(USH1C):c.1020-2A>C
|
rs147956944
|
|
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp)
|
rs140934960
|
|
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)
|
rs1554960390
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
|
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter)
|
rs1554959148
|
|
NM_153676.4(USH1C):c.1265del (p.Gly422fs)
|
rs1554957912
|
|
NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[1])
|
rs1554957867
|
|
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter)
|
rs148115969
|
|
NM_153676.4(USH1C):c.1413+2T>C
|
rs1344670523
|
|
NM_153676.4(USH1C):c.1543CCCCCGCCT[3] (p.Pro518_Pro520dup)
|
rs777764626
|
|
NM_153676.4(USH1C):c.1559dup (p.Ser521fs)
|
rs1554957167
|
|
NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs)
|
rs758580540
|
|
NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs)
|
rs1554957020
|
|
NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del)
|
rs1175090344
|
|
NM_153676.4(USH1C):c.1806del (p.Ile603fs)
|
rs765346539
|
|
NM_153676.4(USH1C):c.1806dup (p.Ile603fs)
|
rs765346539
|
|
NM_153676.4(USH1C):c.1807dup (p.Ile603fs)
|
rs1554956941
|
|
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter)
|
rs1554956913
|
|
NM_153676.4(USH1C):c.1840del (p.Gln614fs)
|
rs1554956916
|
|
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter)
|
rs778700091
|
|
NM_153676.4(USH1C):c.1956_1957del (p.His652fs)
|
rs766725582
|
|
NM_153676.4(USH1C):c.1A>G (p.Met1Val)
|
rs1554965967
|
|
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs)
|
rs1554956821
|
|
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter)
|
rs139116036
|
|
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.2381-2A>G
|
rs1465352266
|
|
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys)
|
rs397517876
|
|
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del)
|
rs779253356
|
|
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys)
|
rs769021971
|
|
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.2528dup (p.Glu844fs)
|
rs1554953360
|
|
NM_153676.4(USH1C):c.2546+1G>T
|
rs1554953350
|
|
NM_153676.4(USH1C):c.2655+12G>A
|
rs727504552
|
|
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del)
|
rs1474458620
|
|
NM_153676.4(USH1C):c.2681del (p.Gly894fs)
|
rs1554952757
|
|
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs)
|
rs1554952752
|
|
NM_153676.4(USH1C):c.496+1G>T
|
rs138138689
|
|
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu)
|
rs200319849
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser)
|
rs770543827
|
|
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.748_759+5del
|
rs1355262412
|
|
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe)
|
rs267602805
|
|
NM_153676.4(USH1C):c.819+1G>A
|
rs1554961152
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del)
|
rs1554960929
|
|