Exon | Domain | Nucleotide Change | Amino Acid Change | Age of Onset | Hearing Levela | ACMG Classificationb | Origin of Family | Reference |
---|---|---|---|---|---|---|---|---|
2 | N-terminal | c.373_374delCG | p.Arg125Valfs*101 | – | Profound | – | Ashkenazi, Jewish | Brownstein (2011) |
2 | N-terminal | c.419del | p.Lys140Serfs*304 | – | Profound | – | – | Zhang (2019) |
2 | N-terminal | c.453_455delCGAinsTGGACGCCTGGTCGGGCAGTGG | p.Glu152Glyfs*81 | Progressive | Mild and Profound | – | Qatar | Vozzi (2014) |
2 | N-terminal | c.514C > T | p.Leu172Phe | – | – | LP | Japan | Miyagawa (2013) |
2 | N-terminal | c.535G > T | p.Glu179Ter | Congenital | Moderate and severe | P | Korea, Japan | Park (2014), Miyagawa (2015) |
2 | N-terminal | c.554G > A | p.Gly185Asp | – | – | U | Japan | Miyagawa (2013) |
2 | N-terminal | c.613 T > C | p.Phe205Leu | – | – | U | Japan | Miyagawa (2013) |
2 | N-terminal | c.625G > T | p.Glu209Ter | – | Severe to profound | P | – | Zhang (2019) |
2 | N-terminal | c.671A > G | p.Tyr224Cys | – | – | U | Japan | Miyagawa (2013) |
2 | N-terminal | c.742C > G | p.Arg248Gly | – | – | P | – | Rehman (2016) |
2 | N-terminal | c.855dup | p.Pro286Serfs*15 | Congenital | Severe to profound | P | China | Zhang (2019) |
2 | N-terminal | c.867C > G | p.Tyr289Ter | Congenital or prelingual, progressive | Moderate to severe/R | P | Turkey | Cengiz (2010) |
2 | N-terminal | c.1047C > A | p.Tyr349Ter | – | – | P | Russian | Imtiaz (2011) |
2 | N-terminal | c.1047C > T | p.Tyr349 = | – | – | LB | Saudi Arabia | Sloan-Heggen (2015), Imtiaz (2011) |
2 | N-terminal | c.1137delC | p.Tyr380Metfs*65 | Prelingual progressive | Normal between 0.125 and 0.25 kHz/S | P | German | Vona (2014) |
2 | N-terminal | c.1171_1177dupGCCATCT | p.Tyr393Cysfs*41 | Congenital | Severe to profound | P | Oman | Palombo (2017) |
2 | N-terminal | c.1185dupC | p.Glu396Argfs*36 | 10–14 y congenital | Moderate to profound/R | P | Pakistan, Japan | Bashir (2012), Miyagawa (2013) |
2 | N-terminal | c.1223C > T | p.Ala408Val | – | – | P | – | Brownstein (2014) |
2 | N-terminal | c.1387A > G | p.Met463Val | Congenital | Severe to profound/R | C | Iran | Fattahi (2012) |
2 | N-terminal | c.1454 T > C | p.Val485Ala | – | – | C | – | Sloan-Heggen (2015) |
2 | N-terminal | c.1634C > T | p.Ala545Val | – | – | C | – | Sloan-Heggen (2015) |
2 | N-terminal | c.1651G > A | p.Ala551Thr | Congenital | Severe to profound | U | - | Zhang (2019) |
2 | N-terminal | c.2456C > A | p.Ser819Ter | Congenital | Severe to profound | LP | Pakistan | Richard (2019) |
2 | N-terminal | c.2516del | p.Pro839Argfs*24 | – | – | P | Iran | Sloan-Heggen (2015) |
2 | N-terminal | c.2759G > A | p.Trp920Ter | Congenital | Moderate | – | Iran | Sloan-Heggen (2015) |
2 | N-terminal | c.3020C > A | p.Pro1009His | Congenital | – | – | China | Yang (2013) |
2 | N-terminal | c.3026C > A | p.Pro1009His | Congenital | – | C | China | Yang (2013) |
2 | N-terminal | c.3313G > T | p.Glu1105Ter | Congenital | Profound | P | Pakistan | Nal (2007), Miyagawa (2013) |
2 | N-terminal | c.3334delG | p.Arg1112fs*1124 | Congenital | Mild to Profound/R | – | Pakistan | Nal (2007), Miyagawa (2013) |
2 | N-terminal | c.3505C > T | p.Arg1169Ter | Congenital | Severe to profound | P | Pakistan | Richard (2019) |
2 | N-terminal | c.3524dupA | p.Ser1175Valfs*1188 | Congenital | Severe/R | P | China | Li (2016) |
2 | N-terminal | c.3524dup | p.Ser1176Valfs*14 | Congenital | Mild | P | China | Zhang (2019) |
2 | Motor | c.3685C > T | p.Gln1229Ter | Congenital | Profound | P | Pakistan | Liburd (2001) |
Intron 4 | Motor | c.3756 + 1G > T | p.Asp1232fs*1241 | Congenital | Profound | P | Pakistan | Liburd (2001) |
4 | Motor | c.3742C > T | p.Arg1248Thr | Congenital | Severe | U | China | Zhang (2019) |
4 | Motor | c.3758C > T | p.Thr1253Ile | Congenital | Severe to profound | P | India | Nal (2007) |
Intron 5 | Motor | c.3866 + 1G > A | p.Thr1253fs*1277 | Congenital | Moderate to profound | P | Pakistan | Nal (2007), Naz (2017) |
5 | Motor | c.3844C > T | p.Arg1282Trp | Congenital | Severe to profound | U | Netherlands | Neveling (2013) |
6 | Motor | c.3866dupC | p.His1290Alafs*25 | Congenital | Severe to profound | U | China | Bai (2019) |
6 | Motor | c.3871C > T | p.Leu1291Phe | Congenital | Severe | P | – | Zhang (2019) |
6 | Motor | c.3892G > A | p.Ala1298Thr | Congenital | Mild to Severe/R | – | China | Gu (2015) |
6 | Motor | c.3932 T > C | p.Ile1311Thr | – | – | LP | – | Zhang (2019) |
6 | Motor | c.3944G > A | p.Gly1315Glu | – | – | P | – | Zhang (2019) |
8 | Motor | c.4072G > A | p.Gly1358Ser | Second decade | Moderate and severe | Japan | Miyagawa (2015) | |
9 | Motor | c.4176C > A | p.Tyr1392Ter | – | Severe to profound | P | Pakistan, Iran | Nal (2007), Sloan-Heggen (2015) |
9 | Motor | c.4198G > A | p.Val1400Met | Congenital or prelingual | Severe to profound | P and L | Turkey | Manzoli (2016), Cengiz (2010) |
11 | Motor | c.4216G > A | p.Glu1406Lys | – | – | LP | Japan | Miyagawa (2013) |
10 | Motor | c.4240G > A | p.Glu1414Lys | – | – | P | Palestinian, Arab | Brownstein (2011) |
11 | Motor | c.4252G > A | p.Gly1418Arg | Congenital | Moderate | P | China | Zhang (2019) |
10 | Motor | c.4273C > T | p.Gln1425Ter | – | – | P and LP | Turkey | Miyagawa (2015) |
11 | Motor | c.4310A > G | p.Tyr1437Cys | Postlingual childhood | Mild moderate | U | Iran | Sloan-Heggen (2015) |
11 | Motor | c.4313 T > C | p.Leu1438Pro | Congenital | Severe to profound | P | – | Zhang (2019) |
Intron 11 | Motor | c.4320 + 1G > A | – | – | – | P and LP | Korea | Park (2014), Woo (2013) |
12 | Motor | c.4322G > T | p.Gly1441Val | Congenital | Mild and Severe/R | P and LP | Japan; China | Miyagawa (2013), Gu (2015), Moteki (2016) |
11 | Motor | c.4351G > A | p.Asp1451Asn | – | Severe to profound | P and LP | India | Nal (2007) |
11 | Motor | c.4441 T > C | p.Ser1481Pro | Congenital or prelingual | Severe to profound | P and LP | Turkey | Cengiz (2010), Diaz-Horta (2012) |
13 | Motor | c.4519C > T | p.Arg1507Ter | Congenital | Severe to profound | P | Iran | Sarmadi (2020) |
13 | Motor | c.4528C > T | p.Gln1510Ter | – | – | P and LP | Pakistan | Sloan-Heggen (2015) |
13 | Motor | c.4642G > A | p.Ala1548Thr | Congenital | Severe to profound | P | China | Chen (2016) |
13 | Motor | c.4652C > A | p.Ala1551Asp | – | – | – | Turkey | Miyagawa (2015) |
Intron 14 | Motor | c.4655 + 1G > A | – | – | – | P and LP | Iran | Sloan-Heggen (2015) |
15 | Motor | c.4666G > A | p.Ala1556Thr | – | mild | U | China | Zhang (2019) |
15 | Motor | c.4669A > G | p.Lys1557Glu | – | Severe to profound | – | Pakistan | Nal (2007) |
15 | Motor | c.4747 T > C | p.Ser1583Pro | Congenital | Profound | – | China | Zhang (2019) |
15 | Motor | c.4777G > A | p.Glu1593Lys | – | – | U | – | Sloan-Heggen (2015) |
15 | Motor | c.4780G > C | p.Asp1594His | Congenital | Severe to profound | P | – | Zhang (2019) |
15 | Motor | c.4823C > A | p.Ala1608Glu | Congenital | Profound | – | China | Zhang (2019) |
16 | Motor | c.4828G > A | p.Glu1610Lys | – | – | U | Japan | Miyagawa (2013) |
17 | Motor | c.4888C > G | p.Arg1630Gly | – | – | U | Japan | Miyagawa (2013) |
17 | Motor | c.4898 T > C | p.Ile1633Thr | Congenital | Severe/R | U | China, Pakistan | Gu (2015), Rehman (2016) |
17 | Motor | c.4904_4907delGAG | p.Gly1637del | Postlingual | Severe to profound | P and LP | Iran | Fattahi (2012) |
17 | Motor | c.4952C > T | p.Ser1651Leu | – | – | U | – | Sloan-Heggen (2015) |
16 | Motor | c.4998G > A | p.Cys1666Ter | – | – | – | Tunisia | Belguith (2009) |
18 | Motor | c.5087dup | p.Pro1697Alafs*2 | Congenital | Severe to profound | P | – | Zhang (2019) |
18 | Motor | c.5117_5118GC > TT | p.Leu1706Val | – | Severe to profound | – | Pakistan | Belguith (2009) |
19 | Motor | c.5141A > T | p.Leu1714Met | Congenital | Moderate | U | – | Zhang (2019) |
18 | Motor | c.5189 T > C | p.Gly1730Pro | – | Severe to profound | – | Pakistan | Nal (2007) |
19 | Motor | c.5203C > T | p.Arg1735Trp | – | – | U | – | Zhang (2019) |
19 | Motor | c.5212-2A > G | – | – | – | U | Turkey | Atik (2015) |
20 | Motor | c.5287C > T | p.Arg1763Trp | – | – | B | Netherlands | Neveling (2013) |
20 | Motor | c.5305A > G | p.Thr1769Ala | Congenital | Severe to profound/R | – | Iran | Fattahi (2012) |
20 | Motor | c.5336 T > C | p.Leu1779Pro | Congenital | Profound | U | Algerian | Ammar-Khodja (2015) |
22 | Motor | c.5417 T > C | p.Leu1806Pro | – | – | P | – | Zhang (2019) |
22 | Motor | c.5421delT | p.Phe1807Leufs*6 | Congenital | Severe to profound /R | – | Iran | Fattahi (2012) |
21 | Motor | c.5492G > T | p.Gly1831Val | – | Severe to profound | P | Turkey | Kalay (2007) |
22 | Motor | c.5504G > A | p.Arg1835His | Postlingual, progressive | Mild to severe/R | – | Korea | Chang (2018) |
22 | Motor | c.5507 T > C | p.Leu1836Pro | Congenital | Profound | – | China | Zhang (2019) |
Intron 22 | Motor | c.5650-1G > A | p.Ala1884Ter | – | – | – | Turkey | Duman (2011) |
24 | Motor | c.5692C > T | p.Arg1898Ter | – | – | U | China | Zhang (2019) |
23 | Motor | c.5808_5814delCCGTGGC | p.Arg1937Thrfs*10 | Congenital or prelingual | Severe to profound | P and LP | Turkey | Cengiz (2010) |
23 | IQ3 | c.5809C > T | p.Arg1937Cys | – | – | U | Iran, Pakistan | Rehman (2016), Sloan-Heggen (2015) |
23 | IQ3 | c.5810G > A | p.Arg1937His | Postlingual or congenital | Mild and severe to profound/R | P and LP | Iran | Fattahi (2012), Sloan-Heggen (2015) |
23 | IQ3 | c.5835 T > G | p.Tyr1945Ter | Congenital | Profound | P | Korea | Chang (2015) |
25 | IQ Motif | c.5925G > A | p.Trp1975Ter | Congenital | Severe to profound/R | C | Iran | Fattahi (2012) |
Intron 26 | IQ Motif | c.5964 + 3G > A | – | – | – | U | China | Gao (2013) |
27 | IQ Motif | c.5977C > T | p.Arg1993Trp | – | – | U | China | Zhang (2019) |
27 | IQ Motif | c.5978G > A | p.Arg1993Gln | First decade/Postlingual | Mild and severe/R | C | Japan | Miyagawa (2015) |
28 | IQ Motif | c.6052G > A | p.Gly2018Arg | – | Mild | B | – | Zhang (2019) |
27 | - | c.6061C > T | p.Gln2021Ter | – | Severe to profound | – | Pakistan | Nal (2007) |
27 | IQ Motif | c.6146C > A | p.Pro2049His | Congenital | Severe to profound | P | – | Zhang (2019) |
Intron 27 | IQ Motif | c.6178-2A > G | – | Congenital | Severe to profound | P | Pakistan | Rehman (2016) |
28 | MyTH4 | c.6217C > T | p.Pro2073Ser | Congenital | Profound | U | Iran | Shearer (2009) |
29 | MyTH4 | c.6306_6307insG | p.Ala2104Cysfs*18 | – | – | – | China | Yang (2013) |
29 | MyTH4 | c.6331A > T | p.Asn2111Tyr | Congenital | Profound | P | Iran | Wang (1998) |
29 | MyTH4 | c.6337A > T | p.Ile2113Phe | Congenital | Profound | P | Indonesia | Wang (1998) |
29 | MyTH4 | c.6340G > A | p.Val2114Met | – | – | P | China | Yang (2013) |
30 | MyTH4 | c.6371G > A | p.Arg2124Gln | Congenital | Mild and severe to profound/R | L | Iran | Shearer (2009) |
30 | MyTH4 | c.6437G > A | p.Arg2146Gln | Postlingual | Mild and severe | P and LP | Korea; Iran | Sloan-Heggen (2015), Woo (20,130 |
30 | MyTH4 | c.6436C > T | p.Arg2146Trp | – | Mild | U | – | Zhang (2019) |
30 | MyTH4 | c.6487delG | p.Ala2153Profs*100 | Prelingual | Mild to profound/R | P and LP | Japan | Miyagawa (2015) |
30 | MyTH4 | c.6589C > T | p.Gln2197Ter | – | – | P | Pakistan | Rehman (2016) |
30 | MyTH4 | c.6614C > T | p.Thr2205Ile | Congenital | Moderate | U | North America | Liburd (2001) |
31 | MyTH4 | c.6634G > A | p.Glu2212Leu | Moderate | U | – | Zhang (2019) | |
32 | - | c.6703 T > C | p.Ser2235Pro | Second decade/postlingual | Moderate/R | U | Japan | Miyagawa (2015) |
31 | - | c.6731G > A | p.Gly2244Glu | Prelingual | Severe to profound | P and LP | Pakistan, Japan | Nal (2007), Miyagawa (2015) |
Intron 32 | - | c.6764 + 2 T > A | – | – | – | P and LP | Netherlands | Sloan-Heggen (2015), Neveling (2013) |
33 | - | c.6787G > A | p.Gly2263Ser | – | – | U | – | Sloan-Heggen (2015) |
31 | - | c.6796G > A | p.Val2266Met | – | Severe to profound | U | Pakistan, Turkey | Nal (2007) |
33 | - | c.6845A > G | p.Tyr2282Cys | – | – | U | – | Zhang (2019) |
33 | - | c.6893G > A | p.Arg2298Gln | – | – | LP | – | Sloan-Heggen (2015) |
Intron 33 | - | c.6956 + 9C > G | – | – | – | U | – | Yang (2013) |
34 | - | c.7047del | p.Tyr2350Thrfs*67 | Congenital | Profound | P | – | Zhang (2019) |
35 | - | c.7124_7127delACAG | p.Asp2375Valfs*29 | Prelingual progressive | Severe | P and LP | Germany | Vona (2014) |
Intron 36 | - | c.7395 + 3G > C | – | – | Severe to profound | U | Tunisia | Belguith (2009), Riahi (2014) |
35 | - | c.7207G > T | p.Asp2403Tyr | Congenital | Profound | P | Palestinian Territories | Shahin (2010) |
36 | - | c.7226del | p.Pro2409Glnfs*8 | – | – | P | Puerto Rico | Sloan-Heggen (2015), Bademci (2016) |
39 | - | c.7550C > G | p.Thr2517Ser | Congenital | Mild moderate asymmetric | U | Iran | Sloan-Heggen (2015) |
39 | - | c.7636C > T | p.Gln2546Ter | Congenital | Profound | U | – | Zhang (2019) |
40 | - | c.7679G > A | p.Arg2560Gln | – | – | U | – | Sloan-Heggen (2015) |
40 | - | c.7708_7709insCA | p.Gln2571Hisfs*35 | Congenital | Profound | – | China | Zhang (2019) |
39 | SnAPC2 like | c.7801A > T | p.Lys2601Ter | Congenital | Profound | P | India | Wang (1998) |
41 | - | c.7822G > A | p.Asp2608Asn | Congenital | Profound | U | China | Zhang (2019) |
42 | - | c.7894G > T | p.Val2632Leu | – | – | U | – | Bademci (2016) |
41 | SnAPC2 like | c.7982C > A | p.Ser2661Ter | – | – | – | Turkey | Duman (2011) |
43 | - | c.7990C > A | p.Pro2664Thr | – | – | LB | – | Zhang (2019) |
43 | - | c.8033_8056del | p.Asn2678Ter | Congenital | Severe | – | China | Zhang (2019) |
43 | c.8050 T > C | p.Tyr2684His | Congenital | Severe | U | – | Zhang (2019) | |
44 | FERM | c.8077del | p.Leu2693Cysfs*45 | Congenital | Mild to profound | – | China | Zhang (2019) |
44 | FERM | c.8090 T > C | p.Val2697Ala | Congenital | Severe | P | – | Zhang (2019) |
46 | FERM | c.8148G > T | p.Gln2716His | Congenital | Profound | P | Pakistan | Liburd (2001) |
43 | FERM | c.8158G > C | p.Asp2720His | – | Moderate to profound | P and LP | Pakistan | Nal (2007), Naz (2017) |
43 | - | c.8183G > A | p.Arg2728His | Congenital | – | P and LP | Jewish, China | Yang (2013), Brownstein (2011) |
43 | - | c.8198A > C | p.Glu2733Ala | Congenital | Profound | – | Japan | Miyagawa (2015) |
45 | - | c.8222 T > C | p.Phe2741Ser | – | – | P | – | Zhang (2019) |
Intron 45 | - | c.8224 + 3A > G | splice site | – | – | LP | Pakistani | Richard (2019) |
46 | - | c.8309_8311del | p.Glu2770del | – | – | P and LP | Turkey, Iran | Sloan-Heggen (2015), Bademci (2016) |
43 | - | c.8324G > A | p.Arg2775His | – | – | – | China | Yang (2013) |
46 | - | c.8340G > A | p. Thr2780Thr | Congenital | Profound | P | Israel | Danial-Farran (2018) |
47 | - | c.8375 T > C | p.Val2792Ala | – | – | P | China | Gao (2013) |
47 | FERM | c.8445_8448delCCTG | p.Val2815Valfs*10 | Congenital | Severe to profound | P | Iran | Sarmadi (2020) |
47 | FERM | c.8450G > A | p.Arg2817His | Congenital | Mild to severe/R | U | China | Gu (2015) |
47 | FERM | c.8457C > G | p.Tyr2819Ter | – | – | P | – | Zhang (2019) |
48 | FERM | c.8467G > A | p.Asp2823Asn | Congenital | Moderate to profound/R | P and LP | Iran | Fattahi (2012), Sloan-Heggen (2015) |
49 | SH3 | c.8707C > T | p.Arg2903Ter | Congenital | Profound | U | – | Zhang (2019) |
50 | SH3 | c.8725G > A | p.Gly2909Ser | Congenital | Profound | P | – | Zhang (2019) |
48 | SH3 | c.8767C > T | p.Arg2923Ter | – | – | P and LP | China | Woo (2013) |
50 | SH3 | c.8771G > A | p.Arg2924His | – | Mild and severe | LB | – | Zhang (2019) |
50 | SH3 | c.8791del | p.Trp2931Glyfs*103 | Congenital | Profound | China | Zhang (2019) | |
51 | SH3 | c.8812G > A | p.Gly2938Arg | Congenital | Mild moderate asymmetric | U | Iran | Sloan-Heggen (2015) |
49 | SH3 | c.8821_8822insTG | p.Val2940fs*3034 | Congenital | Severe to profound | – | Pakistan | Nal (2007) |
49 | SH3 | c.8899dup | p.Arg2967ProfsTer33 | Congenital | Profound | – | Germany | Budde (2020) |
49 | SH3 | c.8899C > T | p.Arg2967Ter | Congenital | Profound | – | Germany | Budde (2020) |
Intron49 | - | c.8968-1G > C | – | – | Profound | P | Turkey | Kalay (2007) |
52 | - | c.9083 + 6 T > A | – | Congenital | Profound | P | Israel | Danial-Farran (2018) |
Intron53 | - | c.9229 + 1G > A | – | – | Severe to profound | – | Tunisia | Belguith (2009) |
54 | MyTH4 | c.9221 T > C | p.Met3074Thr | – | – | U | – | Zhang (2019) |
56 | MyTH4 | c.9316dupC | p.H3106Pfs*2 | Congenital | Severe to profound | P | China | Xia (2015) |
57 | MyTH4 | c.9400C > T | p.Arg3134Ter | – | – | P | – | Zhang (2019) |
57 | MyTH4 | c.9408G > C | p.Trp3136Cys | – | – | U | – | Zhang (2019) |
57 | MyTH4 | c.9413 T > A | p.Leu3138Gln | Congenital or prelingual | Moderate to Profound/ R | P and LP | Japan | Miyagawa (2015) |
59 | MyTH4 | c.9478C > T | p.Leu3160Phe | Congenital | Severe to profound/ R | U | Pakistan; Japan | Nal (2007), Miyagawa (2013), Miyagawa (2015) |
57 | MyTH4 | c.9517G > A | p.Gly3173Arg | First decade/postlingual | Mild to severe/R | – | Japan | Miyagawa (2015) |
58 | MyTH4 | c.9534C > G | p.Cys3178Trp | Congenital | Severe to profound | P | – | Zhang (2019) |
58 | MyTH4 | c.9571C > T | p.Arg3191Cys | Congenital | Severe to profound | P | China | Zhou (2019) |
58 | MyTH4 | c.9572G > A | p.Arg3191His | Congenital | Severe to profound | P | – | Zhang (2019) |
57 | MyTH4 | c.9584C > G | p.Pro3195Arg | prelingual | Moderate to severe | – | Iran | Mehregan (2019) |
Intron 58 | MyTH4 | c.9611_9612 + 8del TGGTGAGCAT | p.Leu3204Cysfs*17 | Congenital | – | P | Iran | Akbariazar (2019) |
59 | MyTH4 | c.9620G > A | p.Arg3207His | – | – | U | – | Bademci (2016) |
60 | FERM | c.9781A > T | p.Asn3261Tyr | – | – | U | – | Miyagawa (2013) |
60 | FERM | c.9790C > T | p.Gln3264Ter | Postlingual, progressive | Mild to severe/R | – | Korea | Chang (2018) |
61 | FERM | c.9908A > G | p.Lys3303Arg | – | – | U | – | Sloan-Heggen (2015) |
65 | FERM | c.9958_9961delGACT | p.Asp3320Thrfs*2 | First decade | Severe to profound | P | Brazil | Lezirovitz (2008) |
65 | FERM | c.9995_10002dupGCCGGCCC | p.Ser3335Alafs*121 | Congenital or prelingual | Severe to profound | P and LP | Turkey | Cengiz (2010) |
63 | FERM | c.10181C > T | p.Ala3394Val | Congenital | Severe to profound | U | – | Zhang (2019) |
63 | FERM | c.10202G > A | p.Arg3401His | Postlingual childhood | Mild moderate | P | Iran | Sloan-Heggen (2015) |
64 | FERM | c.10245_10247delCTC | p.Ser3417del | Postlingual, progressive | Severe/R | P | Korea | Chang (2018), Miyagawa (2015) |
64 | FERM | c.10249_10251delTCC | p.Phe3417del | Congenital | Profound | P | Japan | Miyagawa (2015) |
64 | FERM | c.10258_10260del | p.Phe3420del | Congenital | Profound | P | China | Zhang (2019) |
64 | FERM | c.10263C > G | p.Ile3421Met | 10–19 y/ Postlingual, progressive | Moderate to severe/R | U | Japan/Korea | Chang (2018), Miyagawa (2015) |
65 | FERM | c.10394G > A | p.Arg3465Gln | – | – | U | – | Sloan-Heggen (2015) |
66 | FERM | c.10474C > T | p.Gln3492Ter | – | Severe to profound | P | Pakistan | Nal (2007) |
66 | FERM | c.10572dup | p.Ser3525fs*79 | – | – | P | – | Zhang (2019) |
66 | FERM | c.10573delA | p.Ser3525fs*29 | Prelingual | Severe to profound | P | Brazil | Lezirovitz (2008) |