NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|not provided
β
β
ββ2026β Residue 1025
NM_001039141.3(TRIOBP):c.3295C>T (p.Gln1099Ter)Pathogenic
not provided|Hearing loss, autosomal recessive
β
β
ββ2025β Residue 1099
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|not provided
β
β
ββ2025β Residue 347
NM_001039141.3(TRIOBP):c.2758C>T (p.Arg920Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28
β
β
ββ2025β Residue 920
NM_001039141.3(TRIOBP):c.2320C>T (p.Arg774Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|not provided
β
β
ββ2025β Residue 774
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|not provided
β
β
ββ2025β Residue 1117
NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28
β
β
ββ2025β Residue 448
NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 28
β
β
ββ2025β Residue 645
NM_001039141.3(TRIOBP):c.2609_2619del (p.Gln870fs)Pathogenic
not provided
β
β
ββ2025β Residue 870
NM_001039141.3(TRIOBP):c.4436dup (p.Thr1480fs)Pathogenic
not provided
β
β
ββ2025β Residue 1480
NM_001039141.3(TRIOBP):c.163C>T (p.Arg55Ter)Likely pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 28
β
β
ββ2024β Residue 55
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28
β
β
ββ2024β Residue 726
NM_001039141.3(TRIOBP):c.138_153del (p.Glu47fs)Pathogenic
Rare genetic deafness|not provided
β
β
ββ2024β Residue 47
NM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|not provided
β
β
ββ2024β Residue 595
NM_001039141.3(TRIOBP):c.5184+1G>APathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 28
β
β
ββ2024
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|Rare genetic deafness|not provided
β
β
ββ2024β Residue 1078
NM_001039141.3(TRIOBP):c.5488-2A>GLikely pathogenic
not provided
β
β
ββ2024
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs)Pathogenic
Hearing loss, autosomal recessive|Autosomal recessive nonsyndromic hearing loss 28|not provided
β
β
ββ2023β Residue 1154
NM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 28|not provided
β
β
ββ2023β Residue 1072
NM_001039141.3(TRIOBP):c.4320_4321del (p.His1440fs)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 28
β
β
ββ2023β Residue 1440