NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
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.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.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.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_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_153676.4(USH1C):c.2275A>T (p.Lys759Ter)
|
|
|
NM_153676.4(USH1C):c.2359del (p.Arg787fs)
|
|
|
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.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)
|
|
|
NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs)
|
|
|
NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter)
|
|
|
NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter)
|
|
|
NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter)
|
|
|
NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter)
|
|
|
NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter)
|
|
|
NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs)
|
|
|
NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter)
|
|
|
NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter)
|
|
|
NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter)
|
|
|
NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter)
|
|
|
NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter)
|
|
|
NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter)
|
|
|
NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter)
|
|
|
NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs)
|
|
|
NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs)
|
|
|
NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs)
|
|
|
NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter)
|
|
|
NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs)
|
|
|
NM_206933.4(USH2A):c.1659del (p.Leu553fs)
|
|
|
NM_206933.4(USH2A):c.1994del (p.Lys665fs)
|
|
|
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)
|
|
|
NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter)
|
|
|
NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter)
|
|
|
NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs)
|
|
|
NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs)
|
|
|
NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter)
|
|
|
NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs)
|
|
|
NM_206933.4(USH2A):c.2525del (p.Phe842fs)
|
|
|
NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter)
|
|
|
NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs)
|
|
|
NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs)
|
|
|
NM_206933.4(USH2A):c.2876_2877del (p.Val959fs)
|
|
|
NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs)
|
|
|
NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs)
|
|
|
NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs)
|
|
|
NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs)
|
|
|
NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter)
|
|
|
NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs)
|
|
|
NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs)
|
|
|
NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter)
|
|
|
NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs)
|
|
|
NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter)
|
|
|
NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)
|
|
|
NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter)
|
|
|
NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs)
|
|
|
NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter)
|
|
|
NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter)
|
|
|
NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter)
|
|
|
NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter)
|
|
|
NM_206933.4(USH2A):c.658C>T (p.Gln220Ter)
|
|
|
NM_206933.4(USH2A):c.675_678del (p.Phe225fs)
|
rs2102708663
|
|
NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter)
|
|
|
NM_206933.4(USH2A):c.734_735del (p.Ser245fs)
|
|
|
NM_206933.4(USH2A):c.793C>T (p.Gln265Ter)
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NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter)
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NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter)
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NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter)
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NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter)
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NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter)
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NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter)
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NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter)
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NM_206933.4(USH2A):c.956del (p.Cys319fs)
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NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter)
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NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs)
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