NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)
|
rs56165709
|
0.00336
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser)
|
rs139175351
|
0.00026
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00021
|
NM_001384140.1(PCDH15):c.4672-1564T>C
|
rs193186244
|
0.00019
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912
|
0.00006
|
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)
|
rs397516292
|
0.00002
|
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)
|
rs750009006
|
0.00002
|
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)
|
rs1555067667
|
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.5442T>A (p.Tyr1814Ter)
|
rs1407313220
|
0.00001
|
NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter)
|
rs1951307710
|
|
NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter)
|
rs1951308166
|
|
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter)
|
rs1555067598
|
|
NM_000260.4(MYO7A):c.1237A>T (p.Lys413Ter)
|
|
|
NM_000260.4(MYO7A):c.1348G>T (p.Glu450Ter)
|
|
|
NM_000260.4(MYO7A):c.1351C>T (p.Gln451Ter)
|
rs1953058015
|
|
NM_000260.4(MYO7A):c.1423G>T (p.Glu475Ter)
|
rs1953066164
|
|
NM_000260.4(MYO7A):c.1534G>T (p.Glu512Ter)
|
|
|
NM_000260.4(MYO7A):c.1583_1584del (p.Leu528fs)
|
|
|
NM_000260.4(MYO7A):c.1642C>T (p.Gln548Ter)
|
|
|
NM_000260.4(MYO7A):c.1843A>T (p.Lys615Ter)
|
rs1954237712
|
|
NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter)
|
rs1954248090
|
|
NM_000260.4(MYO7A):c.1905C>A (p.Cys635Ter)
|
rs1954250327
|
|
NM_000260.4(MYO7A):c.1931_1932del (p.Pro644fs)
|
|
|
NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter)
|
rs1954477050
|
|
NM_000260.4(MYO7A):c.1974C>G (p.Tyr658Ter)
|
|
|
NM_000260.4(MYO7A):c.2077_2078delinsT (p.Lys693fs)
|
|
|
NM_000260.4(MYO7A):c.2089A>T (p.Lys697Ter)
|
|
|
NM_000260.4(MYO7A):c.2116del (p.Gln706fs)
|
|
|
NM_000260.4(MYO7A):c.2137_2138insAAAGGTT (p.Leu713fs)
|
|
|
NM_000260.4(MYO7A):c.2253del (p.Gln752fs)
|
|
|
NM_000260.4(MYO7A):c.2287_2288del (p.Asn763fs)
|
|
|
NM_000260.4(MYO7A):c.2392C>T (p.Gln798Ter)
|
rs1555082575
|
|
NM_000260.4(MYO7A):c.2425C>T (p.Gln809Ter)
|
|
|
NM_000260.4(MYO7A):c.2441del (p.Arg814fs)
|
|
|
NM_000260.4(MYO7A):c.2455C>T (p.Gln819Ter)
|
rs1955017383
|
|
NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter)
|
rs1407246264
|
|
NM_000260.4(MYO7A):c.2576_2577del (p.Leu859fs)
|
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.2648del (p.Glu883fs)
|
|
|
NM_000260.4(MYO7A):c.2702_2703insAA (p.Ala902fs)
|
|
|
NM_000260.4(MYO7A):c.2743G>T (p.Glu915Ter)
|
|
|
NM_000260.4(MYO7A):c.275_278dup (p.Ile94fs)
|
|
|
NM_000260.4(MYO7A):c.2779del (p.Glu927fs)
|
|
|
NM_000260.4(MYO7A):c.2782C>T (p.Gln928Ter)
|
rs1955177223
|
|
NM_000260.4(MYO7A):c.2819C>A (p.Ser940Ter)
|
rs1955180601
|
|
NM_000260.4(MYO7A):c.2839_2840insGTATAAGAGACAG (p.Phe947fs)
|
|
|
NM_000260.4(MYO7A):c.2998A>T (p.Lys1000Ter)
|
|
|
NM_000260.4(MYO7A):c.3084C>A (p.Tyr1028Ter)
|
rs1955281533
|
|
NM_000260.4(MYO7A):c.3271C>T (p.Gln1091Ter)
|
rs1955333327
|
|
NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter)
|
rs1307924861
|
|
NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter)
|
rs1555051419
|
|
NM_000260.4(MYO7A):c.3779T>A (p.Leu1260Ter)
|
|
|
NM_000260.4(MYO7A):c.3982C>T (p.Gln1328Ter)
|
rs1956130442
|
|
NM_000260.4(MYO7A):c.4126A>T (p.Lys1376Ter)
|
rs1956149175
|
|
NM_000260.4(MYO7A):c.4153G>T (p.Glu1385Ter)
|
rs1956480240
|
|
NM_000260.4(MYO7A):c.4219G>T (p.Glu1407Ter)
|
rs1956485578
|
|
NM_000260.4(MYO7A):c.4321A>T (p.Lys1441Ter)
|
rs1956496669
|
|
NM_000260.4(MYO7A):c.4363A>T (p.Lys1455Ter)
|
|
|
NM_000260.4(MYO7A):c.4423G>T (p.Glu1475Ter)
|
rs1956761177
|
|
NM_000260.4(MYO7A):c.4432A>T (p.Lys1478Ter)
|
rs1956761416
|
|
NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter)
|
rs1956843097
|
|
NM_000260.4(MYO7A):c.4762G>T (p.Glu1588Ter)
|
rs1181067492
|
|
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter)
|
rs1401619267
|
|
NM_000260.4(MYO7A):c.5179A>T (p.Lys1727Ter)
|
|
|
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter)
|
rs782347270
|
|
NM_000260.4(MYO7A):c.5209A>T (p.Lys1737Ter)
|
rs1591474980
|
|
NM_000260.4(MYO7A):c.5275A>T (p.Lys1759Ter)
|
|
|
NM_000260.4(MYO7A):c.5488G>T (p.Glu1830Ter)
|
rs768418736
|
|
NM_000260.4(MYO7A):c.548C>A (p.Ser183Ter)
|
|
|
NM_000260.4(MYO7A):c.5610C>A (p.Cys1870Ter)
|
rs1957393464
|
|
NM_000260.4(MYO7A):c.5655C>A (p.Tyr1885Ter)
|
rs1957431273
|
|
NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter)
|
rs1406392019
|
|
NM_000260.4(MYO7A):c.5842A>T (p.Lys1948Ter)
|
rs1957520697
|
|
NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter)
|
rs1957642707
|
|
NM_000260.4(MYO7A):c.6013A>T (p.Lys2005Ter)
|
rs186644871
|
|
NM_000260.4(MYO7A):c.602del (p.Asn201fs)
|
|
|
NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter)
|
rs1957842461
|
|
NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter)
|
rs530700420
|
|
NM_000260.4(MYO7A):c.6231G>A (p.Trp2077Ter)
|
rs1957851234
|
|
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp)
|
rs759614902
|
|
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter)
|
rs1957904821
|
|
NM_000260.4(MYO7A):c.6252C>G (p.Tyr2084Ter)
|
rs1957904821
|
|
NM_000260.4(MYO7A):c.6355C>T (p.Gln2119Ter)
|
|
|
NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter)
|
|
|
NM_000260.4(MYO7A):c.712G>T (p.Glu238Ter)
|
rs1952532000
|
|
NM_000260.4(MYO7A):c.767del (p.Tyr256fs)
|
|
|
NM_000260.4(MYO7A):c.778G>T (p.Glu260Ter)
|
rs1555064033
|
|
NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter)
|
rs2135244869
|
|
NM_000260.4(MYO7A):c.802A>T (p.Lys268Ter)
|
|
|
NM_000260.4(MYO7A):c.83_84del (p.Val28fs)
|
|
|
NM_000260.4(MYO7A):c.842T>A (p.Leu281Ter)
|
rs1952585733
|
|
NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter)
|
rs1952682554
|
|
NM_000260.4(MYO7A):c.956C>A (p.Ser319Ter)
|
rs782747153
|
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491
|
|
NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)
|
|
|
NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)
|
|
|
NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)
|
|
|
NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)
|
|
|
NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)
|
|
|
NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)
|
|
|
NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)
|
|
|
NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)
|
|
|
NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)
|
|
|
NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)
|
|
|
NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)
|
|
|
NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)
|
|
|
NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)
|
|
|
NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)
|
|
|
NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)
|
|
|
NM_001384140.1(PCDH15):c.2518_2519del (p.Gln840fs)
|
|
|
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
|
|
|
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
|
|
|
NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)
|
|
|
NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)
|
|
|
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)
|
|
|
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)
|
|
|
NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)
|
|
|
NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)
|
|
|
NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)
|
|
|
NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)
|
|
|
NM_001384140.1(PCDH15):c.355del (p.Gln119fs)
|
|
|
NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)
|
|
|
NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)
|
|
|
NM_001384140.1(PCDH15):c.3717+1G>T
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)
|
|
|
NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)
|
|
|
NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)
|
|
|
NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)
|
|
|
NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)
|
|
|
NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)
|
|
|
NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)
|
|
|
NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)
|
|
|
NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)
|
|
|
NM_001384140.1(PCDH15):c.811dup (p.Val271fs)
|
|
|
NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)
|
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)
|
|
|
NM_153676.4(USH1C):c.2359del (p.Arg787fs)
|
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs)
|
|
|
NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs)
|
|
|
NM_153676.4(USH1C):c.301_311del (p.Ser101fs)
|
|
|
NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs)
|
|
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689
|
|
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
|
|
|
NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)
|
|
|
NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs)
|
|
|
NM_153676.4(USH1C):c.84_85insC (p.Val29fs)
|
|
|
NM_153676.4(USH1C):c.891_892del (p.Met298fs)
|
|
|
NM_153676.4(USH1C):c.913_925del (p.Ala305fs)
|
|
|
NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)
|
|
|
NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs)
|
|
|