TMC1 (Q8TDI8) variants and mutations
TMC1 (also known as Q8TDI8) is a human protein-coding gene encoding a transmembrane channel-like protein 1 protein. A pore-forming component of the mechanotransduction channel at the tips of cochlear hair-cell stereocilia. Variants can cause inherited hearing loss. This analysis covers 1,182 TMC1 variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes autosomal recessive nonsyndromic hearing loss 7, autosomal dominant nonsyndromic hearing loss 36, and deafness. Example TMC1 variants include S2*, S2L, and S2P.
Variant analysis overview
- Gene: TMC1
- Protein: Q8TDI8
- UniProt accession: Q8TDI8
- Organism: Homo sapiens
- Variants analyzed: 1182
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 1,100 unspecified-consequence records; 57 synonymous variants; 80 missense variants; 15 frameshift variants; 5 splice-region variants; 8 stop-gained variants; 4 in-frame deletions; 1 protein altering variant; 2 in-frame insertions; 1 splice acceptor variant; 3 substitution
- Prediction scores: 1,118 variants have prediction scores (95% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: autosomal recessive nonsyndromic hearing loss 7, autosomal dominant nonsyndromic hearing loss 36, deafness, hearing loss, autosomal recessive, nonsyndromic genetic hearing loss, autosomal dominant nonsyndromic hearing loss, Rare genetic deafness, Hearing impairment, hereditary disease, sensorineural hearing loss disorder, hearing loss disorder, refractive error.
Protein structure and variant hotspots
- Protein features: 10 transmembrane segments; 5 post-translational modification sites.
- Structural context: 416 variants have structural context.
- PTM context: 10 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Diseases linked to TMC1
- Autosomal recessive nonsyndromic hearing loss genes and variants
- Rare genetic deafness genes and variants
- Autosomal dominant nonsyndromic hearing loss genes and variants
- Nonsyndromic genetic hearing loss genes and variants
- Hearing loss genes and variants
- Monogenic hearing loss genes and variants
- Deafness genes and variants
- Bilateral sensorineural hearing impairment genes and variants
Notable TMC1 variants
Examples include S2*, S2L, S2P, S2S, P3L, P3T, P3S, K4Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- S2* (p.Ser2Ter), rs2489587191, ClinGen CA373722690, ClinVar RCV003876511, CADD 36.00, Pathogenic
- S2L (p.Ser2Leu), cosmic curated COSV52769, ESM-1b 0.00, AlphaMissense 0.09
- S2P (p.Ser2Pro), cosmic curated COSV52784, Ensembl rs2132150068, REVEL 0.19, ESM-1b 0.00
- S2S (p.Ser2Ser), gnomAD 9-72648654-A-G, CADD 0.27
- P3L (p.Pro3Leu), gnomAD rs1825753816, REVEL 0.18, ESM-1b 0.00
- P3T (p.Pro3Thr), rs569626109, ClinGen CA184431, cosmic curated COSV10813, ClinVar RCV000156234, REVEL 0.22, ESM-1b 0.00, Uncertain significance, not specified
- P3S (p.Pro3Ser), gnomAD 9-72648655-C-T, REVEL 0.22, ESM-1b 0.00
- K4Q (p.Lys4Gln), TOPMed rs922432583, ESM-1b 0.04, AlphaMissense 0.09
- K4R (p.Lys4Arg), ESP rs145050019, ExAC rs145050019, TOPMed rs145050019, gnomAD rs145050019, REVEL 0.24, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- K5N (p.Lys5Asn), ExAC rs766655548, TOPMed rs766655548, gnomAD rs766655548, REVEL 0.07, ESM-1b 0.08, Uncertain significance, Inborn genetic diseases
- V6I (p.Val6Ile), ExAC rs751771334, gnomAD rs751771334, REVEL 0.12, ESM-1b 0.00
- V6Y (p.Val6Tyr), gnomAD 9-72648657-CA-C, CADD 24.00
- V6S (p.Val6Ser), rs878853229, gnomAD 9-72648657-C-CA, CADD 24.20
- V6V (p.Val6Val), rs1310500871, gnomAD 9-72688710-A-G, CADD 8.68
- Q7R (p.Gln7Arg), gnomAD rs1240634356, REVEL 0.21, ESM-1b 0.00
- Q7K (p.Gln7Lys), gnomAD 9-72688711-C-A, REVEL 0.06, ESM-1b 0.00
- I8N (p.Ile8Asn), ESP rs372383725, ExAC rs372383725, TOPMed rs372383725, gnomAD rs372383725, REVEL 0.23, ESM-1b 0.00
- I8V (p.Ile8Val), gnomAD rs1287826699, REVEL 0.21, ESM-1b 0.00
- I8S (p.Ile8Ser), rs727504554, gnomAD 9-72688711-CA-C, CADD 27.20
- I8I (p.Ile8Ile), gnomAD 9-72688716-C-A, CADD 9.16
- E11Q (p.Glu11Gln), ExAC rs757765718, gnomAD rs757765718, REVEL 0.15, ESM-1b 0.00
- E11R (p.Glu11Arg), gnomAD 9-72688721-TG-T, CADD 28.10
- E11* (p.Glu11Ter), gnomAD 9-72688723-G-T, CADD 47.00
- E11E (p.Glu11Glu), gnomAD 9-72688725-G-A, CADD 7.58
- E11D (p.Glu11Asp), gnomAD 9-72688725-G-T, REVEL 0.19, ESM-1b 0.00
- E12G (p.Glu12Gly), rs2132183942, ClinGen CA373723182, ClinVar RCV001887947, Ensembl rs2132183942, ESM-1b 0.37, AlphaMissense 0.09, Uncertain significance, not provided
- E12K (p.Glu12Lys), TOPMed rs1256139209, gnomAD rs1256139209, ESM-1b 0.00, AlphaMissense 0.11
- E12* (p.Glu12Ter), gnomAD 9-72688726-G-T, CADD 39.00
- E12E (p.Glu12Glu), gnomAD 9-72688728-A-G, CADD 9.66
- K13N (p.Lys13Asn), gnomAD 9-72688731-A-T, REVEL 0.08, ESM-1b 0.00
- E14Q (p.Glu14Gln), gnomAD rs1483956051, REVEL 0.07, ESM-1b 0.08
- E14K (p.Glu14Lys), rs2132183947, gnomAD 9-72688726-GA-G, CADD 27.50
- E14del (p.Glu14del), rs1457328522, gnomAD 9-72688729-AAAG-A, CADD 19.60
- E14E (p.Glu14Glu), gnomAD 9-72688734-A-G, CADD 7.87
- E14D (p.Glu14Asp), gnomAD 9-72688734-A-T, REVEL 0.15, ESM-1b 0.00
- D15A (p.Asp15Ala), ExAC rs779209726, gnomAD rs779209726, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- D15E (p.Asp15Glu), 1000Genomes rs2589615, ESP rs2589615, ExAC rs2589615, TOPMed rs2589615, REVEL 0.13, ESM-1b 0.00, Benign
- D15V (p.Asp15Val), ExAC rs779209726, gnomAD rs779209726, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance
- D15D (p.Asp15Asp), rs2589615, gnomAD 9-72688737-C-T, CADD 0.70
- E16K (p.Glu16Lys), rs140437301, ClinGen CA5081583, cosmic curated COSV99920, ClinVar RCV001166567, REVEL 0.08, ESM-1b 0.00, Uncertain significance, not specified; not provided; Autosomal dominant nonsyndromic hearing loss 36
- E16V (p.Glu16Val), gnomAD 9-72688739-A-T, REVEL 0.09, ESM-1b 0.00
- T17A (p.Thr17Ala), gnomAD 9-72688741-A-G, REVEL 0.09, ESM-1b 0.00
- T17T (p.Thr17Thr), gnomAD 9-72688743-T-C, CADD 3.26
- E18K (p.Glu18Lys), ExAC rs776220877, gnomAD rs776220877, REVEL 0.18, ESM-1b 0.00
- E19D (p.Glu19Asp), Ensembl rs1588032894, REVEL 0.10, ESM-1b 0.00
- E19V (p.Glu19Val), TOPMed rs1378821340, gnomAD rs1378821340, REVEL 0.13, ESM-1b 0.10, Uncertain significance, not provided
- S20I (p.Ser20Ile), 1000Genomes rs189479995, ExAC rs189479995, TOPMed rs189479995, gnomAD rs189479995, REVEL 0.15, ESM-1b 0.00, Uncertain significance
- S20N (p.Ser20Asn), 1000Genomes rs189479995, ExAC rs189479995, TOPMed rs189479995, gnomAD rs189479995, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance
- S20T (p.Ser20Thr), rs189479995, ClinGen CA5081585, ClinVar RCV001776583, ClinVar RCV002544212, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided
- S20R (p.Ser20Arg), gnomAD 9-72688752-C-A, REVEL 0.20, ESM-1b 0.00
- S21* (p.Ser21Ter), gnomAD 9-72688754-C-A, CADD 41.00
- S22C (p.Ser22Cys), ESP rs144387828, ExAC rs144387828, gnomAD rs144387828, REVEL 0.07, ESM-1b 1.00, Uncertain significance
- S22G (p.Ser22Gly), rs144387828, ClinGen CA193341223, ClinVar RCV001964898, ESP rs144387828, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not provided
- S22N (p.Ser22Asn), Ensembl rs1564495681, ESM-1b 0.30, AlphaMissense 0.15
- E23G (p.Glu23Gly), TOPMed rs1317983939, gnomAD rs1317983939, REVEL 0.07, ESM-1b 0.33, Uncertain significance, Inborn genetic diseases
- E24E (p.Glu24Glu), rs1219870972, gnomAD 9-72694550-G-A, CADD 6.55
- E25G (p.Glu25Gly), gnomAD rs1256718391, REVEL 0.08, ESM-1b 1.00
- E25K (p.Glu25Lys), rs1286247872, NCI-TCGA Cosmic COSV5276, cosmic curated COSV52768, TOPMed rs1286247872, REVEL 0.15, ESM-1b 0.44, Variant assessed as somatic; moderate impact.
- E25E (p.Glu25Glu), rs1437713868, gnomAD 9-72694553-A-G, CADD 10.90
- E26Q (p.Glu26Gln), gnomAD 9-72694554-G-C, REVEL 0.04, ESM-1b 0.44
- E26G (p.Glu26Gly), gnomAD 9-72694554-GA-G, CADD 25.20
- E26V (p.Glu26Val), gnomAD 9-72694555-A-T, REVEL 0.01, ESM-1b 0.00
- E26E (p.Glu26Glu), rs769476838, gnomAD 9-72694556-G-A, CADD 7.71
- E27K (p.Glu27Lys), rs777217789, NCI-TCGA Cosmic COSV9992, cosmic curated COSV99920, ExAC rs777217789, REVEL 0.10, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E27D (p.Glu27Asp), gnomAD 9-72694559-G-T, REVEL 0.06, ESM-1b 0.00
- E27E (p.Glu27Glu), rs1272242031, gnomAD 9-72694559-G-A, CADD 8.01
- V28A (p.Val28Ala), rs1487669194, TOPMed rs1487669194, gnomAD rs1487669194, REVEL 0.01, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- V28E (p.Val28Glu), TOPMed rs1487669194, gnomAD rs1487669194, ESM-1b 0.00, AlphaMissense 0.04
- V28L (p.Val28Leu), Ensembl rs1826517957, REVEL 0.05, ESM-1b 0.00
- V28M (p.Val28Met), gnomAD 9-72694560-G-A, REVEL 0.03, ESM-1b 0.02
- V28V (p.Val28Val), rs748771130, gnomAD 9-72694562-G-A, CADD 8.80
- E29D (p.Glu29Asp), ExAC rs770793343, TOPMed rs770793343, gnomAD rs770793343, ESM-1b 0.00, AlphaMissense 0.08, Likely benign
- E29Q (p.Glu29Gln), TOPMed rs1826518098, ESM-1b 0.00, AlphaMissense 0.13
- E29E (p.Glu29Glu), rs770793343, gnomAD 9-72694565-A-G, CADD 10.10
- D30G (p.Asp30Gly), ESP rs367993839, ExAC rs367993839, TOPMed rs367993839, gnomAD rs367993839, REVEL 0.10, ESM-1b 0.00
- D30V (p.Asp30Val), gnomAD 9-72694567-A-T, REVEL 0.14, ESM-1b 0.00
- K31M (p.Lys31Met), cosmic curated COSV52781, ESM-1b 0.00, AlphaMissense 0.18
- L32L (p.Leu32Leu), rs1826518222, gnomAD 9-72694572-C-T, CADD 7.99
- P33H (p.Pro33His), gnomAD rs1168576676, ESM-1b 0.00, AlphaMissense 0.22
- P33S (p.Pro33Ser), gnomAD 9-72694575-C-T, REVEL 0.11, ESM-1b 0.00
- R34* (p.Arg34Ter), rs121908073, ClinGen CA253002, NCI-TCGA Cosmic COSV9991, cosmic curated COSV99918, CADD 34.00, Pathogenic
- R34Q (p.Arg34Gln), rs753977925, NCI-TCGA Cosmic COSV5278, cosmic curated COSV52787, ExAC rs753977925, REVEL 0.12, ESM-1b 0.00, Uncertain significance, TMC1-related disorder
- R34G (p.Arg34Gly), gnomAD 9-72694578-C-G, REVEL 0.14, ESM-1b 0.00
- S37R (p.Ser37Arg), gnomAD 9-72694589-C-A, REVEL 0.08, ESM-1b 0.00
- L38M (p.Leu38Met), Ensembl rs2132189525, ESM-1b 0.00, AlphaMissense 0.07
- R39* (p.Arg39Ter), cosmic curated COSV10453
- R39K (p.Arg39Lys), gnomAD 9-72694594-G-A, REVEL 0.04, ESM-1b 0.00
- K41N (p.Lys41Asn), cosmic curated COSV52772, ESM-1b 0.00, AlphaMissense 0.52
- K41R (p.Lys41Arg), gnomAD 9-72694597-CA-C, CADD 22.60
- R42T (p.Arg42Thr), cosmic curated COSV99919, ESM-1b 0.00, AlphaMissense 0.81
- R42W (p.Arg42Trp), TOPMed rs1826518521, REVEL 0.16, ESM-1b 1.00
- K43R (p.Lys43Arg), cosmic curated COSV52773, ESM-1b 0.00, AlphaMissense 0.10
- R44Q (p.Arg44Gln), cosmic curated COSV10440, 1000Genomes rs572854741, ExAC rs572854741, TOPMed rs572854741, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided; TMC1-related disorder
- R44W (p.Arg44Trp), ExAC rs775411731, TOPMed rs775411731, gnomAD rs775411731, REVEL 0.13, ESM-1b 0.44
- R44L (p.Arg44Leu), gnomAD 9-72694609-G-T, REVEL 0.09, ESM-1b 0.00
- T45S (p.Thr45Ser), TOPMed rs1826518755, REVEL 0.09, ESM-1b 0.00
- T45T (p.Thr45Thr), rs111353632, gnomAD 9-72694613-C-A, CADD 7.74
- R46I (p.Arg46Ile), ExAC rs753879286, TOPMed rs753879286, gnomAD rs753879286, REVEL 0.17, ESM-1b 0.00
- D47E (p.Asp47Glu), rs140388347, 1000Genomes rs140388347, ESP rs140388347, ExAC rs140388347, REVEL 0.12, ESM-1b 0.00, Conflicting interpretations, TMC1-related disorder; Inborn genetic diseases; not specified
- V48I (p.Val48Ile), 1000Genomes rs562374634, ExAC rs562374634, gnomAD rs562374634, REVEL 0.09, ESM-1b 0.00
- I49L (p.Ile49Leu), rs149947445, ClinGen CA142057, ClinVar RCV000041131, ClinVar RCV001166569, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not specified; not provided
- I49M (p.Ile49Met), gnomAD 9-72694616-A-AGAT, CADD 27.60
- I49I (p.Ile49Ile), gnomAD 9-72694625-C-A, CADD 7.60
- N50S (p.Asn50Ser), TOPMed rs1003275832, gnomAD rs1003275832, REVEL 0.07, ESM-1b 0.00
- N50D (p.Asn50Asp), gnomAD 9-72694626-A-G, REVEL 0.06, ESM-1b 0.00
- N50N (p.Asn50Asn), rs1229357087, gnomAD 9-72694628-T-C, CADD 3.96
- E51G (p.Glu51Gly), gnomAD rs1292549270, REVEL 0.02, ESM-1b 0.00
- E51K (p.Glu51Lys), TOPMed rs1446131992, gnomAD rs1446131992, REVEL 0.06, ESM-1b 0.00
- E51E (p.Glu51Glu), rs1259193399, gnomAD 9-72694631-G-A, CADD 7.60
- D52* (p.Asp52Ter), Ensembl rs1826519356
- D52G (p.Asp52Gly), TOPMed rs1185774277, gnomAD rs1185774277, REVEL 0.06, ESM-1b 0.00
- D52H (p.Asp52His), gnomAD rs1033828130, ESM-1b 0.56, AlphaMissense 0.22, Uncertain significance, not provided; Inborn genetic diseases
- D52N (p.Asp52Asn), gnomAD rs1033828130, REVEL 0.03, ESM-1b 0.00, Uncertain significance
- D52D (p.Asp52Asp), gnomAD 9-72694634-T-C, CADD 8.26
- D52E (p.Asp52Glu), gnomAD 9-72694634-T-A, REVEL 0.05, ESM-1b 0.00
- D53E (p.Asp53Glu), TOPMed rs1222130340, gnomAD rs1222130340, ESM-1b 0.00, AlphaMissense 0.14
- D53G (p.Asp53Gly), gnomAD 9-72694636-A-G, REVEL 0.07, ESM-1b 0.00
- D53D (p.Asp53Asp), rs1222130340, gnomAD 9-72694637-C-T, CADD 3.18
- P54S (p.Pro54Ser), ExAC rs780458439, gnomAD rs780458439, REVEL 0.09, ESM-1b 0.00
- E55* (p.Glu55Ter), gnomAD 9-72694641-G-T, CADD 35.00
- E55Q (p.Glu55Gln), gnomAD 9-72694641-G-C, REVEL 0.08, ESM-1b 0.89
- E55E (p.Glu55Glu), gnomAD 9-72694643-A-G, CADD 7.14
- P56L (p.Pro56Leu), gnomAD rs1826519753, REVEL 0.10, ESM-1b 0.00
- P56P (p.Pro56Pro), gnomAD 9-72694646-T-C, CADD 10.40
- E57K (p.Glu57Lys), cosmic curated COSV10453, ESM-1b 0.42, AlphaMissense 0.19
- E57Q (p.Glu57Gln), TOPMed rs1826519799, REVEL 0.06, ESM-1b 0.74
- P58T (p.Pro58Thr), gnomAD 9-72694650-C-A, REVEL 0.05, ESM-1b 0.00
- p.Pro58delinsHisSerThr, gnomAD 9-72694650-C-CATA, CADD 26.40
- E59G (p.Glu59Gly), TOPMed rs1826519855, gnomAD rs1826519855, REVEL 0.04, ESM-1b 1.00
- E59V (p.Glu59Val), gnomAD 9-72694654-A-T, REVEL 0.08, ESM-1b 0.21
- E59E (p.Glu59Glu), rs751950994, gnomAD 9-72694655-G-A, CADD 6.78
- E59D (p.Glu59Asp), gnomAD 9-72694655-G-T, REVEL 0.08, ESM-1b 0.00
- D60H (p.Asp60His), Ensembl rs2132189624, ESM-1b 1.00, AlphaMissense 0.69
- D60N (p.Asp60Asn), gnomAD 9-72694656-G-A, REVEL 0.09, ESM-1b 0.53
- D60E (p.Asp60Glu), gnomAD 9-72694658-T-A, REVEL 0.09, ESM-1b 0.30
- E61K (p.Glu61Lys), cosmic curated COSV10739, ExAC rs755733171, TOPMed rs755733171, gnomAD rs755733171, REVEL 0.06, ESM-1b 0.56, Uncertain significance, not provided
- E61E (p.Glu61Glu), gnomAD 9-72694661-A-G, CADD 8.68
- E62D (p.Glu62Asp), TOPMed rs1826520056, ESM-1b 0.11, AlphaMissense 0.13
- E62K (p.Glu62Lys), gnomAD rs1241564328, REVEL 0.06, ESM-1b 0.00
- T63K (p.Thr63Lys), TOPMed rs1291189248, ESM-1b 0.00, AlphaMissense 0.31
- T63R (p.Thr63Arg), gnomAD 9-72694666-C-G, REVEL 0.15, ESM-1b 0.00
- R64G (p.Arg64Gly), Ensembl rs2132189641, ESM-1b 1.00, AlphaMissense 0.54
- K65E (p.Lys65Glu), rs145098032, ClinGen CA5081619, ClinVar RCV002904415, 1000Genomes rs145098032, REVEL 0.07, ESM-1b 0.00, Likely benign, TMC1-related disorder; not provided
- K65R (p.Lys65Arg), gnomAD 9-72694672-A-G, REVEL 0.06, ESM-1b 0.00
- K65N (p.Lys65Asn), gnomAD 9-72694673-G-T, REVEL 0.02, ESM-1b 0.27
- A66E (p.Ala66Glu), cosmic curated COSV52785, ESM-1b 0.00, AlphaMissense 0.13
- A66T (p.Ala66Thr), 1000Genomes rs551184500, ExAC rs551184500, TOPMed rs551184500, gnomAD rs551184500, REVEL 0.06, ESM-1b 0.11, Uncertain significance, Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic
- A66P (p.Ala66Pro), gnomAD 9-72694674-G-C, REVEL 0.08, ESM-1b 1.00
- A66A (p.Ala66Ala), gnomAD 9-72694676-A-G, CADD 10.10
- R67T (p.Arg67Thr), gnomAD rs1415801221, REVEL 0.09, ESM-1b 1.00
- E68G (p.Glu68Gly), 1000Genomes rs564668916, ExAC rs564668916, TOPMed rs564668916, gnomAD rs564668916, REVEL 0.03, ESM-1b 0.00
- E70A (p.Glu70Ala), TOPMed rs1293692474, gnomAD rs1293692474, REVEL 0.04, ESM-1b 0.00
- E70K (p.Glu70Lys), cosmic curated COSV52776, 1000Genomes rs2132189668, REVEL 0.09, ESM-1b 0.00
- E70G (p.Glu70Gly), gnomAD 9-72694684-AAGAG-, CADD 27.20
- R71G (p.Arg71Gly), cosmic curated COSV99919, gnomAD rs779134204, REVEL 0.16, ESM-1b 0.58
- R71K (p.Arg71Lys), cosmic curated COSV52768, REVEL 0.19, ESM-1b 0.00
- R71T (p.Arg71Thr), gnomAD rs1360787887, REVEL 0.16, ESM-1b 0.66
- R71R (p.Arg71Arg), rs1826520697, gnomAD 9-72694691-G-A, CADD 8.29
- R72K (p.Arg72Lys), TOPMed rs1381809026, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Inborn genetic diseases
- R73K (p.Arg73Lys), gnomAD rs1369129879, REVEL 0.03, ESM-1b 0.00
- R73R (p.Arg73Arg), gnomAD 9-72694697-G-A, CADD 11.00
- R74del (p.Arg74del), gnomAD 9-72694687-AGAG-A, CADD 18.60
- p.Arg74dup, gnomAD 9-72694687-A-AGAG, CADD 18.00
- R74R (p.Arg74Arg), rs1826520899, gnomAD 9-72694698-A-C, CADD 11.00
- R74K (p.Arg74Lys), gnomAD 9-72694699-G-A, REVEL 0.13, ESM-1b 0.00
- R74S (p.Arg74Ser), gnomAD 9-72694700-G-C, REVEL 0.10, ESM-1b 0.00
- L75L (p.Leu75Leu), gnomAD 9-72694701-C-T, CADD 3.70
- K76R (p.Lys76Arg), ExAC rs778543840, gnomAD rs778543840, REVEL 0.03, ESM-1b 0.00
- K76Q (p.Lys76Gln), gnomAD 9-72694704-A-C, REVEL 0.02, ESM-1b 0.00
- K76K (p.Lys76Lys), rs2132189712, gnomAD 9-72694706-G-A, CADD 8.45
- K76N (p.Lys76Asn), gnomAD 9-72694706-G-T, REVEL 0.02, ESM-1b 0.00
- R77G (p.Arg77Gly), gnomAD 9-72694707-A-G, REVEL 0.05, ESM-1b 0.00
- R77T (p.Arg77Thr), gnomAD 9-72694708-G-C, REVEL 0.10, ESM-1b 0.00
- R77R (p.Arg77Arg), rs1315656155, gnomAD 9-72694709-A-G, CADD 14.80
- G78R (p.Gly78Arg), cosmic curated COSV52785, ESM-1b 0.00, AlphaMissense 0.44
- G78A (p.Gly78Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G78E (p.Gly78Glu), gnomAD 9-72694711-G-A, REVEL 0.06, ESM-1b 0.00
- G78G (p.Gly78Gly), gnomAD 9-72694712-A-T, CADD 23.80
- A79E (p.Ala79Glu), rs140482278, ClinGen CA5081623, ClinVar RCV002248272, ESP rs140482278, REVEL 0.08, ESM-1b 0.00, Uncertain significance, not provided
- A79V (p.Ala79Val), rs140482278, ClinGen CA5081624, ClinVar RCV003481916, ESP rs140482278, REVEL 0.07, ESM-1b 0.00, Uncertain significance, TMC1-related disorder; not provided
Public TMC1 analysis runs
- TMC1 analysis run — TMC1 (1,182 variants) — completed 2026-10-09