NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)
|
rs372509310
|
0.00043
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00006
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00006
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
NM_000260.4(MYO7A):c.99_100del (p.Gly34fs)
|
rs782312060
|
0.00006
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)
|
rs121965085
|
0.00004
|
NM_000260.4(MYO7A):c.1A>G (p.Met1Val)
|
rs797044518
|
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_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
|
rs377670513
|
0.00004
|
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)
|
rs41298133
|
0.00004
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)
|
rs750647872
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_000260.4(MYO7A):c.6439-2A>G
|
rs397516330
|
0.00003
|
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)
|
rs782539587
|
0.00002
|
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)
|
rs397516292
|
0.00002
|
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)
|
rs781989117
|
0.00002
|
NM_000260.4(MYO7A):c.254T>C (p.Leu85Pro)
|
rs1325184426
|
0.00002
|
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)
|
rs111033233
|
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.4039C>T (p.Arg1347Cys)
|
rs111534474
|
0.00002
|
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter)
|
rs397516317
|
0.00002
|
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp)
|
rs866352637
|
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.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)
|
rs121965080
|
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_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.133-2A>G
|
rs782064437
|
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.1563del (p.Asp521fs)
|
rs1064794012
|
0.00001
|
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)
|
rs781951909
|
0.00001
|
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)
|
rs1591310948
|
0.00001
|
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)
|
rs111033180
|
0.00001
|
NM_000260.4(MYO7A):c.1963C>T (p.Gln655Ter)
|
rs397516291
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter)
|
rs782255281
|
0.00001
|
NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter)
|
rs1461201353
|
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.2461C>T (p.Gln821Ter)
|
rs1279918132
|
0.00001
|
NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter)
|
rs1334199217
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.2695-9A>G
|
rs1397029418
|
0.00001
|
NM_000260.4(MYO7A):c.2838del (p.Met946fs)
|
rs782636104
|
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.321_322insA (p.Tyr108fs)
|
rs1324244950
|
0.00001
|
NM_000260.4(MYO7A):c.3249C>A (p.Tyr1083Ter)
|
rs1412474435
|
0.00001
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635
|
0.00001
|
NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter)
|
rs548381313
|
0.00001
|
NM_000260.4(MYO7A):c.3504-1G>C
|
rs1555090171
|
0.00001
|
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr)
|
rs1555090442
|
0.00001
|
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp)
|
rs371374104
|
0.00001
|
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)
|
rs750358148
|
0.00001
|
NM_000260.4(MYO7A):c.3924+1G>C
|
rs1226046110
|
0.00001
|
NM_000260.4(MYO7A):c.4065del (p.His1355fs)
|
rs111033202
|
0.00001
|
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)
|
rs766641715
|
0.00001
|
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter)
|
rs397516308
|
0.00001
|
NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter)
|
rs778934538
|
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.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.5146G>T (p.Glu1716Ter)
|
rs1236207116
|
0.00001
|
NM_000260.4(MYO7A):c.5458C>T (p.Gln1820Ter)
|
rs369973293
|
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.5581C>T (p.Arg1861Ter)
|
rs878864531
|
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.5944G>A (p.Gly1982Arg)
|
rs761469964
|
0.00001
|
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter)
|
rs773844428
|
0.00001
|
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp)
|
rs1173853484
|
0.00001
|
NM_000260.4(MYO7A):c.6043T>C (p.Tyr2015His)
|
rs377640847
|
0.00001
|
NM_000260.4(MYO7A):c.6051+2T>C
|
rs1353598791
|
0.00001
|
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)
|
rs111033198
|
0.00001
|
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter)
|
rs1060499802
|
0.00001
|
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter)
|
rs776930594
|
0.00001
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610
|
0.00001
|
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)
|
rs111033283
|
0.00001
|
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)
|
rs1383147250
|
0.00001
|
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)
|
rs111033285
|
0.00001
|
NC_000011.10:g.(?_77166046)_(77177653_?)del
|
|
|
NC_000011.10:g.(?_77208430)_(77211937_?)del
|
|
|
NC_000011.10:g.77158278del
|
rs2135256121
|
|
NC_000011.10:g.77172749del
|
rs2135406224
|
|
NC_000011.9:g.(?_76841681)_(76841718_?)del
|
|
|
NC_000011.9:g.(?_76853735)_(76877228_?)del
|
|
|
NC_000011.9:g.(?_76858824)_(76869496_?)del
|
|
|
NC_000011.9:g.(?_76858834)_(76877218_?)del
|
|
|
NC_000011.9:g.(?_76890071)_(76892655_?)del
|
|
|
NC_000011.9:g.(?_76892406)_(76925741_?)del
|
|
|
NC_000011.9:g.(?_76909274)_(76910667_?)del
|
|
|
NC_000011.9:g.(?_76922177)_(76925741_?)del
|
|
|
NM_000260.4(MYO7A):c.1003+1G>A
|
rs1952694662
|
|
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter)
|
rs782639389
|
|
NM_000260.4(MYO7A):c.1059_1075del (p.Ala353_Thr354insTer)
|
rs2135270511
|
|
NM_000260.4(MYO7A):c.1074del (p.Glu360fs)
|
rs1952797903
|
|
NM_000260.4(MYO7A):c.1076_1077dup (p.Glu360fs)
|
|
|
NM_000260.4(MYO7A):c.1080+1G>A
|
rs2135270924
|
|
NM_000260.4(MYO7A):c.1091del (p.Pro364fs)
|
|
|
NM_000260.4(MYO7A):c.1091dup (p.Asp365fs)
|
rs1952854443
|
|
NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter)
|
rs1951308166
|
|
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094
|
|
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter)
|
rs1555067598
|
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)
|
rs387906700
|
|
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)
|
rs1297886521
|
|
NM_000260.4(MYO7A):c.1227G>A (p.Trp409Ter)
|
rs2135287852
|
|
NM_000260.4(MYO7A):c.1309G>A (p.Asp437Asn)
|
|
|
NM_000260.4(MYO7A):c.133-1G>T
|
rs1951682627
|
|
NM_000260.4(MYO7A):c.1342_1343del (p.Ser448fs)
|
|
|
NM_000260.4(MYO7A):c.1344-2A>G
|
rs111033415
|
|
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)
|
rs1269622956
|
|
NM_000260.4(MYO7A):c.1350_1359dup (p.Ile454fs)
|
|
|
NM_000260.4(MYO7A):c.1353_1360del (p.Gln451fs)
|
rs1555069242
|
|
NM_000260.4(MYO7A):c.1357T>C (p.Cys453Arg)
|
|
|
NM_000260.4(MYO7A):c.1359C>A (p.Cys453Ter)
|
rs1555069272
|
|
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile)
|
rs121965084
|
|
NM_000260.4(MYO7A):c.1384C>T (p.Gln462Ter)
|
|
|
NM_000260.4(MYO7A):c.1385A>C (p.Gln462Pro)
|
|
|
NM_000260.4(MYO7A):c.139_161dup (p.His55fs)
|
|
|
NM_000260.4(MYO7A):c.13C>T (p.Gln5Ter)
|
rs1950740762
|
|
NM_000260.4(MYO7A):c.1426G>T (p.Glu476Ter)
|
rs1953066558
|
|
NM_000260.4(MYO7A):c.152_156dup (p.Ala53fs)
|
|
|
NM_000260.4(MYO7A):c.1555-1G>A
|
rs2135310334
|
|
NM_000260.4(MYO7A):c.1555-1G>C
|
|
|
NM_000260.4(MYO7A):c.1574T>G (p.Leu525Ter)
|
rs1953131447
|
|
NM_000260.4(MYO7A):c.1623del (p.Lys542fs)
|
rs782077721
|
|
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs)
|
rs782077721
|
|
NM_000260.4(MYO7A):c.1677C>G (p.Tyr559Ter)
|
|
|
NM_000260.4(MYO7A):c.1687C>T (p.Gln563Ter)
|
|
|
NM_000260.4(MYO7A):c.1690+1G>A
|
rs111033389
|
|
NM_000260.4(MYO7A):c.1717del (p.Leu573fs)
|
rs1953513223
|
|
NM_000260.4(MYO7A):c.1771C>T (p.Gln591Ter)
|
rs1953519454
|
|
NM_000260.4(MYO7A):c.1798-1G>A
|
rs1555076948
|
|
NM_000260.4(MYO7A):c.1798-2A>C
|
rs894309052
|
|
NM_000260.4(MYO7A):c.1798-2A>G
|
|
|
NM_000260.4(MYO7A):c.18+1G>A
|
|
|
NM_000260.4(MYO7A):c.18+2T>C
|
|
|
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter)
|
rs782598897
|
|
NM_000260.4(MYO7A):c.1829_1832dup (p.Ser611_Ser612insTer)
|
rs2135406725
|
|
NM_000260.4(MYO7A):c.183del (p.Thr62fs)
|
rs1446588093
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)
|
rs121965083
|
|
NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter)
|
rs1954248090
|
|
NM_000260.4(MYO7A):c.1918G>T (p.Glu640Ter)
|
rs1555077319
|
|
NM_000260.4(MYO7A):c.1935+1G>A
|
rs1343207038
|
|
NM_000260.4(MYO7A):c.1940del (p.Phe647fs)
|
rs1555078815
|
|
NM_000260.4(MYO7A):c.1954T>C (p.Cys652Arg)
|
|
|
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)
|
rs878853236
|
|
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)
|
rs878853378
|
|
NM_000260.4(MYO7A):c.19G>C (p.Gly7Arg)
|
|
|
NM_000260.4(MYO7A):c.2003G>A (p.Arg668His)
|
rs368575149
|
|
NM_000260.4(MYO7A):c.2019del (p.Ile674fs)
|
rs1261771810
|
|
NM_000260.4(MYO7A):c.2035dup (p.Val679fs)
|
rs1565390318
|
|
NM_000260.4(MYO7A):c.2075_2076del (p.Val692fs)
|
|
|
NM_000260.4(MYO7A):c.2116C>T (p.Gln706Ter)
|
rs1954549039
|
|
NM_000260.4(MYO7A):c.211_215dup (p.Leu73fs)
|
|
|
NM_000260.4(MYO7A):c.2131dup (p.Ala711fs)
|
rs2135430236
|
|
NM_000260.4(MYO7A):c.2156G>A (p.Trp719Ter)
|
|
|
NM_000260.4(MYO7A):c.2164G>C (p.Gly722Arg)
|
rs1954557651
|
|
NM_000260.4(MYO7A):c.2172del (p.Lys725fs)
|
rs397516294
|
|
NM_000260.4(MYO7A):c.2186del (p.Lys729fs)
|
rs2135430894
|
|
NM_000260.4(MYO7A):c.2187+2_2187+8del
|
|
|
NM_000260.4(MYO7A):c.2227del (p.Ala743fs)
|
|
|
NM_000260.4(MYO7A):c.2239dup (p.Arg747fs)
|
|
|
NM_000260.4(MYO7A):c.223del (p.Asp75fs)
|
rs876657415
|
|
NM_000260.4(MYO7A):c.2253del (p.Gln752fs)
|
|
|
NM_000260.4(MYO7A):c.2282+1G>A
|
|
|
NM_000260.4(MYO7A):c.2283-1G>A
|
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.2307del (p.Asn769fs)
|
rs1060499800
|
|
NM_000260.4(MYO7A):c.2367+1G>A
|
rs2135465268
|
|
NM_000260.4(MYO7A):c.2440dup (p.Arg814fs)
|
rs2135472044
|
|
NM_000260.4(MYO7A):c.2498del (p.Phe833fs)
|
|
|
NM_000260.4(MYO7A):c.2500del (p.Arg834fs)
|
|
|
NM_000260.4(MYO7A):c.2533_2534del (p.Ala845fs)
|
|
|
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys)
|
rs2135473615
|
|
NM_000260.4(MYO7A):c.2569C>T (p.Gln857Ter)
|
rs1555082994
|
|
NM_000260.4(MYO7A):c.2582del (p.Ala861fs)
|
|
|
NM_000260.4(MYO7A):c.2589T>A (p.Tyr863Ter)
|
|
|
NM_000260.4(MYO7A):c.2593_2602del (p.Trp865fs)
|
|
|
NM_000260.4(MYO7A):c.2619del (p.Leu874fs)
|
|
|
NM_000260.4(MYO7A):c.2661del (p.Lys888fs)
|
rs2135478379
|
|
NM_000260.4(MYO7A):c.267C>G (p.Tyr89Ter)
|
|
|
NM_000260.4(MYO7A):c.2707C>T (p.Gln903Ter)
|
rs1955169360
|
|
NM_000260.4(MYO7A):c.2722del (p.Asp908fs)
|
rs2135486189
|
|
NM_000260.4(MYO7A):c.274del (p.His92fs)
|
|
|
NM_000260.4(MYO7A):c.2750del (p.Glu917fs)
|
rs1591378140
|
|
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs)
|
|
|
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg)
|
rs1296612982
|
|
NM_000260.4(MYO7A):c.285+1G>A
|
|
|
NM_000260.4(MYO7A):c.285+2T>A
|
|
|
NM_000260.4(MYO7A):c.285+2T>C
|
rs782292032
|
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032
|
|
NM_000260.4(MYO7A):c.285C>A (p.Tyr95Ter)
|
rs1555054892
|
|
NM_000260.4(MYO7A):c.2875C>T (p.Gln959Ter)
|
rs1555084324
|
|
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)
|
rs111033233
|
|
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)
|
rs782281371
|
|
NM_000260.4(MYO7A):c.2958del (p.Leu988fs)
|
|
|
NM_000260.4(MYO7A):c.2982_2983dup (p.Asp995fs)
|
|
|
NM_000260.4(MYO7A):c.2997T>A (p.Tyr999Ter)
|
rs2135493809
|
|
NM_000260.4(MYO7A):c.3040del (p.Thr1014fs)
|
|
|
NM_000260.4(MYO7A):c.3098dup (p.Gly1033_Asp1034insTer)
|
|
|
NM_000260.4(MYO7A):c.3126G>A (p.Trp1042Ter)
|
|
|
NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs)
|
rs1955319492
|
|
NM_000260.4(MYO7A):c.3143del (p.Phe1048fs)
|
rs1955320652
|
|
NM_000260.4(MYO7A):c.3171C>G (p.Tyr1057Ter)
|
rs868993459
|
|
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter)
|
rs116892396
|
|
NM_000260.4(MYO7A):c.325C>T (p.Gln109Ter)
|
|
|
NM_000260.4(MYO7A):c.3262dup (p.Gln1088fs)
|
|
|
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)
|
rs782468194
|
|
NM_000260.4(MYO7A):c.3304C>T (p.Gln1102Ter)
|
rs2135504652
|
|
NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs)
|
rs1064793208
|
|
NM_000260.4(MYO7A):c.3412C>T (p.Gln1138Ter)
|
|
|
NM_000260.4(MYO7A):c.3430del (p.Glu1144fs)
|
|
|
NM_000260.4(MYO7A):c.3446_3447insA (p.Asn1150fs)
|
|
|
NM_000260.4(MYO7A):c.3461T>C (p.Leu1154Pro)
|
|
|
NM_000260.4(MYO7A):c.3470T>A (p.Ile1157Asn)
|
|
|
NM_000260.4(MYO7A):c.348_349insCCCA (p.Glu117fs)
|
|
|
NM_000260.4(MYO7A):c.3504-1G>A
|
|
|
NM_000260.4(MYO7A):c.3532del (p.Gln1178fs)
|
rs111033239
|
|
NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs)
|
rs111033390
|
|
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)
|
rs1555090294
|
|
NM_000260.4(MYO7A):c.3564_3570del (p.Ser1187_Tyr1188insTer)
|
rs1955867564
|
|
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)
|
rs1253943370
|
|
NM_000260.4(MYO7A):c.358del (p.Arg120fs)
|
rs2135227044
|
|
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs)
|
rs1555090368
|
|
NM_000260.4(MYO7A):c.3612del (p.Ser1205fs)
|
|
|
NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter)
|
rs878853376
|
|
NM_000260.4(MYO7A):c.3664_3673del (p.Gly1222fs)
|
|
|
NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs)
|
rs397516303
|
|
NM_000260.4(MYO7A):c.3722_3723insT (p.Gln1242fs)
|
|
|
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)
|
rs1057517857
|
|
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs)
|
rs397516304
|
|
NM_000260.4(MYO7A):c.3729dup (p.Pro1244fs)
|
rs1955941699
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347
|
|
NM_000260.4(MYO7A):c.376A>T (p.Lys126Ter)
|
rs2135227381
|
|
NM_000260.4(MYO7A):c.3829del (p.Ala1277fs)
|
rs2135562294
|
|
NM_000260.4(MYO7A):c.385G>T (p.Glu129Ter)
|
rs1952428470
|
|
NM_000260.4(MYO7A):c.3878_3879del (p.Leu1293fs)
|
rs760251968
|
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
|
NM_000260.4(MYO7A):c.3892G>C (p.Gly1298Arg)
|
|
|
NM_000260.4(MYO7A):c.3904del (p.Tyr1302fs)
|
|
|
NM_000260.4(MYO7A):c.3944_3945dup (p.Ser1316fs)
|
rs1956125716
|
|
NM_000260.4(MYO7A):c.3957dup (p.Met1320fs)
|
rs1956127429
|
|
NM_000260.4(MYO7A):c.395C>T (p.Pro132Leu)
|
rs370395532
|
|
NM_000260.4(MYO7A):c.3978C>A (p.Cys1326Ter)
|
|
|
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)
|
rs373169422
|
|
NM_000260.4(MYO7A):c.397C>G (p.His133Asp)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397del (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.3998del (p.Gln1333fs)
|
rs2135575726
|
|
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs)
|
rs1555093028
|
|
NM_000260.4(MYO7A):c.4031T>C (p.Leu1344Pro)
|
rs2135576239
|
|
NM_000260.4(MYO7A):c.4043_4044del (p.Lys1348fs)
|
|
|
NM_000260.4(MYO7A):c.4045G>T (p.Glu1349Ter)
|
|
|
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs)
|
rs1480697910
|
|
NM_000260.4(MYO7A):c.4153-2A>G
|
rs1060499803
|
|
NM_000260.4(MYO7A):c.4183C>T (p.Gln1395Ter)
|
|
|
NM_000260.4(MYO7A):c.4183del (p.Gln1395fs)
|
|
|
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)
|
rs1555095933
|
|
NM_000260.4(MYO7A):c.4225del (p.Leu1409fs)
|
rs1398609491
|
|
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs)
|
rs1555096070
|
|
NM_000260.4(MYO7A):c.426C>A (p.Tyr142Ter)
|
|
|
NM_000260.4(MYO7A):c.4288A>T (p.Lys1430Ter)
|
rs2135620410
|
|
NM_000260.4(MYO7A):c.4330dup (p.Tyr1444fs)
|
|
|
NM_000260.4(MYO7A):c.4398G>A (p.Trp1466Ter)
|
rs1956759935
|
|
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro)
|
rs397516310
|
|
NM_000260.4(MYO7A):c.4422T>G (p.Tyr1474Ter)
|
rs2135658805
|
|
NM_000260.4(MYO7A):c.4436del (p.Phe1479fs)
|
rs2135659017
|
|
NM_000260.4(MYO7A):c.4474del (p.Ala1492fs)
|
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)
|
rs121965079
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000260.4(MYO7A):c.4510C>T (p.Gln1504Ter)
|
|
|
NM_000260.4(MYO7A):c.4521_4522del (p.Leu1508fs)
|
rs2135670160
|
|
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla)
|
rs111033259
|
|
NM_000260.4(MYO7A):c.4555del (p.Val1519fs)
|
rs876657712
|
|
NM_000260.4(MYO7A):c.4564dup (p.Ser1522fs)
|
|
|
NM_000260.4(MYO7A):c.4613del (p.Cys1538fs)
|
rs1956916004
|
|
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter)
|
rs1952434877
|
|
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)
|
rs1555100273
|
|
NM_000260.4(MYO7A):c.4650_4659del (p.Ala1551fs)
|
|
|
NM_000260.4(MYO7A):c.4674G>A (p.Trp1558Ter)
|
rs2135680215
|
|
NM_000260.4(MYO7A):c.4770dup (p.Arg1591fs)
|
rs2135681132
|
|
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter)
|
rs1052030
|
|
NM_000260.4(MYO7A):c.4800del (p.Leu1601fs)
|
rs1183407733
|
|
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter)
|
rs397516315
|
|
NM_000260.4(MYO7A):c.4834C>T (p.Gln1612Ter)
|
|
|
NM_000260.4(MYO7A):c.4858G>T (p.Glu1620Ter)
|
|
|
NM_000260.4(MYO7A):c.486_593-20delinsAG
|
rs2135235196
|
|
NM_000260.4(MYO7A):c.4891_4892del (p.Asp1631fs)
|
rs2135698596
|
|
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs)
|
rs1555101858
|
|
NM_000260.4(MYO7A):c.492G>C (p.Lys164Asn)
|
rs1952491231
|
|
NM_000260.4(MYO7A):c.4943G>A (p.Trp1648Ter)
|
rs2135699140
|
|
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser)
|
rs1201586094
|
|
NM_000260.4(MYO7A):c.4959del (p.Asn1653fs)
|
rs2135699333
|
|
NM_000260.4(MYO7A):c.496G>T (p.Glu166Ter)
|
|
|
NM_000260.4(MYO7A):c.496del (p.Glu166fs)
|
rs111033448
|
|
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter)
|
rs1401619267
|
|
NM_000260.4(MYO7A):c.5035G>T (p.Glu1679Ter)
|
|
|
NM_000260.4(MYO7A):c.5040dup (p.Val1681fs)
|
rs1219910828
|
|
NM_000260.4(MYO7A):c.5074C>T (p.Gln1692Ter)
|
rs564645548
|
|
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter)
|
rs530520654
|
|
NM_000260.4(MYO7A):c.5134dup (p.Tyr1712fs)
|
|
|
NM_000260.4(MYO7A):c.5156_5157del (p.Ser1718_Tyr1719insTer)
|
rs1957127300
|
|
NM_000260.4(MYO7A):c.5168+2T>C
|
rs1192104600
|
|
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter)
|
rs782347270
|
|
NM_000260.4(MYO7A):c.5208del (p.Lys1737fs)
|
|
|
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)
|
rs111033477
|
|
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs)
|
rs1555103532
|
|
NM_000260.4(MYO7A):c.5260C>T (p.Gln1754Ter)
|
|
|
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)
|
rs1555051455
|
|
NM_000260.4(MYO7A):c.5300C>A (p.Ser1767Ter)
|
rs757896867
|
|
NM_000260.4(MYO7A):c.5340C>A (p.Tyr1780Ter)
|
|
|
NM_000260.4(MYO7A):c.5340C>G (p.Tyr1780Ter)
|
|
|
NM_000260.4(MYO7A):c.5358del (p.Lys1787fs)
|
|
|
NM_000260.4(MYO7A):c.5374_5380dup (p.Glu1794fs)
|
rs2135721049
|
|
NM_000260.4(MYO7A):c.541C>T (p.Gln181Ter)
|
|
|
NM_000260.4(MYO7A):c.5420_5421dup (p.Pro1808fs)
|
rs1591479405
|
|
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter)
|
rs778009227
|
|
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys)
|
rs377267777
|
|
NM_000260.4(MYO7A):c.5446C>T (p.Gln1816Ter)
|
|
|
NM_000260.4(MYO7A):c.5481-1G>A
|
|
|
NM_000260.4(MYO7A):c.5502G>A (p.Trp1834Ter)
|
rs2135732554
|
|
NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His)
|
rs1385324903
|
|
NM_000260.4(MYO7A):c.5515_5522dup (p.Gly1842fs)
|
|
|
NM_000260.4(MYO7A):c.551G>A (p.Trp184Ter)
|
|
|
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs)
|
rs1555105202
|
|
NM_000260.4(MYO7A):c.5576del (p.Gln1859fs)
|
rs2135733500
|
|
NM_000260.4(MYO7A):c.55G>T (p.Glu19Ter)
|
rs781869170
|
|
NM_000260.4(MYO7A):c.5623C>T (p.Gln1875Ter)
|
rs899950389
|
|
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer)
|
rs1299898646
|
|
NM_000260.4(MYO7A):c.5636+1G>A
|
|
|
NM_000260.4(MYO7A):c.5712_5713del (p.His1904fs)
|
rs2135739702
|
|
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter)
|
rs780609120
|
|
NM_000260.4(MYO7A):c.5755G>T (p.Glu1919Ter)
|
|
|
NM_000260.4(MYO7A):c.5785C>T (p.Gln1929Ter)
|
rs1957512851
|
|
NM_000260.4(MYO7A):c.5822_5823del (p.Glu1941fs)
|
rs1957517926
|
|
NM_000260.4(MYO7A):c.582del (p.Ile195fs)
|
rs111033238
|
|
NM_000260.4(MYO7A):c.5835_5836del (p.Phe1946fs)
|
|
|
NM_000260.4(MYO7A):c.5837_5838del (p.Phe1946fs)
|
rs1957520269
|
|
NM_000260.4(MYO7A):c.5854A>T (p.Lys1952Ter)
|
|
|
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del)
|
rs111033232
|
|
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs)
|
rs1397834886
|
|
NM_000260.4(MYO7A):c.5887_5889del (p.Phe1963del)
|
rs1025915101
|
|
NM_000260.4(MYO7A):c.5898_5899delinsGT (p.Arg1967Ter)
|
|
|
NM_000260.4(MYO7A):c.5899del (p.Arg1967fs)
|
|
|
NM_000260.4(MYO7A):c.5906dup (p.Leu1969fs)
|
rs772008531
|
|
NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter)
|
rs1957642707
|
|
NM_000260.4(MYO7A):c.6017_6018del (p.Asp2006fs)
|
|
|
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)
|
rs397516326
|
|
NM_000260.4(MYO7A):c.6044_6047dup (p.Tyr2016Ter)
|
rs1591496649
|
|
NM_000260.4(MYO7A):c.6049C>T (p.Gln2017Ter)
|
rs2135762199
|
|
NM_000260.4(MYO7A):c.604del (p.Ala202fs)
|
|
|
NM_000260.4(MYO7A):c.6051+1G>A
|
rs1403288739
|
|
NM_000260.4(MYO7A):c.6089del (p.Thr2030fs)
|
rs2135784410
|
|
NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter)
|
rs1957842461
|
|
NM_000260.4(MYO7A):c.6114_6115del (p.Leu2040fs)
|
|
|
NM_000260.4(MYO7A):c.6124dup (p.Tyr2042fs)
|
|
|
NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter)
|
rs1957844295
|
|
NM_000260.4(MYO7A):c.6130del (p.Val2044fs)
|
|
|
NM_000260.4(MYO7A):c.616del (p.Arg206fs)
|
|
|
NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter)
|
rs530700420
|
|
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)
|
rs1060499801
|
|
NM_000260.4(MYO7A):c.6196del (p.Gln2066fs)
|
rs1472611150
|
|
NM_000260.4(MYO7A):c.6228_6232del (p.Asp2076fs)
|
rs2135785861
|
|
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs)
|
rs730880367
|
|
NM_000260.4(MYO7A):c.6232A>T (p.Lys2078Ter)
|
rs1957851371
|
|
NM_000260.4(MYO7A):c.6238-2A>C
|
rs1555109612
|
|
NM_000260.4(MYO7A):c.6290del (p.Lys2097fs)
|
|
|
NM_000260.4(MYO7A):c.6297del (p.Phe2100fs)
|
rs2135790890
|
|
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)
|
rs773945008
|
|
NM_000260.4(MYO7A):c.6348_6352dup (p.Lys2118delinsArgTer)
|
rs2135791384
|
|
NM_000260.4(MYO7A):c.6350del (p.Val2117fs)
|
rs2135791473
|
|
NM_000260.4(MYO7A):c.6354+1G>C
|
|
|
NM_000260.4(MYO7A):c.6368del (p.Pro2123fs)
|
rs2135798718
|
|
NM_000260.4(MYO7A):c.6377del (p.Pro2126fs)
|
rs2135798786
|
|
NM_000260.4(MYO7A):c.6412del (p.Val2138fs)
|
rs2135799043
|
|
NM_000260.4(MYO7A):c.6424dup (p.Asp2142fs)
|
rs2135799143
|
|
NM_000260.4(MYO7A):c.6439-1G>A
|
rs1591514873
|
|
NM_000260.4(MYO7A):c.6498C>A (p.Tyr2166Ter)
|
rs397516331
|
|
NM_000260.4(MYO7A):c.6546C>A (p.Cys2182Ter)
|
|
|
NM_000260.4(MYO7A):c.6547G>T (p.Glu2183Ter)
|
|
|
NM_000260.4(MYO7A):c.674dup (p.Ala226fs)
|
|
|
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)
|
rs797044512
|
|
NM_000260.4(MYO7A):c.721C>G (p.Arg241Gly)
|
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.733C>T (p.Gln245Ter)
|
rs1555063281
|
|
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
|
rs782252317
|
|
NM_000260.4(MYO7A):c.73_98dup (p.Gly34_Gln35insArgTrpTerGly)
|
rs2135627311
|
|
NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu)
|
rs369125667
|
|
NM_000260.4(MYO7A):c.790dup (p.Glu264fs)
|
|
|
NM_000260.4(MYO7A):c.795_799dup (p.Lys267fs)
|
rs2135244802
|
|
NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter)
|
rs2135244869
|
|
NM_000260.4(MYO7A):c.807_808del (p.Lys269fs)
|
|
|
NM_000260.4(MYO7A):c.826del (p.Ser276fs)
|
|
|
NM_000260.4(MYO7A):c.846dup (p.Met283fs)
|
|
|
NM_000260.4(MYO7A):c.849+1G>A
|
rs781916556
|
|
NM_000260.4(MYO7A):c.849+1G>C
|
rs781916556
|
|
NM_000260.4(MYO7A):c.849+2T>C
|
rs2135245850
|
|
NM_000260.4(MYO7A):c.868G>T (p.Glu290Ter)
|
rs2135256420
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
NM_000260.4(MYO7A):c.999T>A (p.Tyr333Ter)
|
rs111033285
|
|