COL17A1 (Collagen alpha-1(XVII) chain) variants and mutations
COL17A1 (also known as Collagen alpha-1(XVII) chain) is a human protein-coding gene encoding a collagen alpha-1(XVII) chain protein. It anchors basal keratinocytes to the basement membrane through hemidesmosomes and is essential for stable epidermal adhesion. Biallelic loss-of-function variants cause junctional epidermolysis bullosa, while autoantibodies against the protein cause bullous pemphigoid. This analysis covers 2,118 COL17A1 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes epidermolysis bullosa, junctional 4, intermediate, epithelial recurrent erosion dystrophy, and junctional epidermolysis bullosa, non-Herlitz type. Example COL17A1 variants include D2Y, V3I, and T4A.
Variant analysis overview
- Gene: COL17A1
- Protein: Collagen alpha-1(XVII) chain
- UniProt accession: Q9UMD9
- Organism: Homo sapiens
- Variants analyzed: 2118
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 1,956 unspecified-consequence records; 2 stop lost; 54 synonymous variants; 12 frameshift variants; 5 in-frame deletions; 1 in-frame insertions; 85 missense variants; 2 stop-gained variants; 2 splice-region variants; 2 substitution
- Prediction scores: 1,605 variants have prediction scores (76% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: epidermolysis bullosa, junctional 4, intermediate, epithelial recurrent erosion dystrophy, junctional epidermolysis bullosa, non-Herlitz type, junctional epidermolysis bullosa, amelogenesis imperfecta type 1A, amelogenesis imperfecta, hereditary disease, late-onset junctional epidermolysis bullosa, Generalized junctional epidermolysis bullosa, non-Herlitz type, generalized junctional epidermolysis bullosa non-Herlitz type, localized junctional epidermolysis bullosa, non-Herlitz type, Hypoplastic amelogenesis imperfecta.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 2 post-translational modification sites.
- Structural context: 21 variants have structural context.
- PTM context: 4 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable COL17A1 variants
Examples include D2Y, V3I, T4A, K6*, R9*, R9Q, G11R, G11V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- D2Y (p.Asp2Tyr), NCI-TCGA Cosmic COSV6222, cosmic curated COSV62229, Variant assessed as somatic; moderate impact.
- V3I (p.Val3Ile), rs2086757025, ClinGen CA378083155, ClinVar RCV001103039, Ensembl rs2086757025, CADD 13.20, PolyPhen-2 0.00, Uncertain significance, Junctional epidermolysis bullosa, non-Herlitz type
- T4A (p.Thr4Ala), rs17116471, ClinGen CA5679619, ClinVar RCV000251082, ClinVar RCV000407352, CADD 22.90, PolyPhen-2 0.11, Benign, not provided; not specified; Junctional epidermolysis bullosa, non-Herlitz type
- K6* (p.Lys6Ter), gnomAD rs1260149025, CADD 37.00
- R9* (p.Arg9Ter), rs775196743, ClinGen CA5679618, ClinVar RCV000489975, ClinVar RCV000991294, CADD 35.00, Pathogenic
- R9Q (p.Arg9Gln), rs201399777, NCI-TCGA Cosmic COSV6222, cosmic curated COSV62226, ExAC rs201399777, CADD 22.50, PolyPhen-2 0.17, Uncertain significance, Junctional epidermolysis bullosa, non-Herlitz type
- G11R (p.Gly11Arg), Ensembl rs267602354
- G11V (p.Gly11Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T12I (p.Thr12Ile), ExAC rs778304185, gnomAD rs778304185
- E13* (p.Glu13Ter), rs2493395783, ClinGen CA378083051, ClinVar RCV003858694, Pathogenic
- E13D (p.Glu13Asp), gnomAD rs112910470, CADD 22.70, PolyPhen-2 0.98
- T15I (p.Thr15Ile), ExAC rs758854385, TOPMed rs758854385, gnomAD rs758854385, CADD 25.20, PolyPhen-2 0.52
- R17G (p.Arg17Gly), cosmic curated COSV10079, ExAC rs752719637, gnomAD rs752719637
- R17T (p.Arg17Thr), ExAC rs765309382, gnomAD rs765309382, CADD 24.80, PolyPhen-2 0.62
- I18=, NCI-TCGA TCGA novel, Variant assessed as somatic; low impact.
- I18T (p.Ile18Thr), TOPMed rs1439368339, gnomAD rs1439368339, CADD 22.60, PolyPhen-2 0.01
- T20S (p.Thr20Ser), ExAC rs766571485, gnomAD rs766571485, CADD 24.70, PolyPhen-2 0.98
- E21D (p.Glu21Asp), TOPMed rs1394924211, gnomAD rs1394924211
- T22I (p.Thr22Ile), ExAC rs767281533, TOPMed rs767281533, gnomAD rs767281533, CADD 29.70, PolyPhen-2 1.00
- T22K (p.Thr22Lys), ExAC rs767281533, TOPMed rs767281533, gnomAD rs767281533, CADD 26.90, PolyPhen-2 0.99
- T22R (p.Thr22Arg), ExAC rs767281533, TOPMed rs767281533, gnomAD rs767281533
- T22S (p.Thr22Ser), 1000Genomes rs201183562, ExAC rs201183562, TOPMed rs201183562, gnomAD rs201183562, CADD 23.50, PolyPhen-2 0.98
- V23A (p.Val23Ala), ExAC rs774479515, gnomAD rs774479515, CADD 24.00, PolyPhen-2 0.36
- T25A (p.Thr25Ala), ESP rs141274879, TOPMed rs141274879, gnomAD rs141274879
- T25P (p.Thr25Pro), ESP rs141274879, TOPMed rs141274879, gnomAD rs141274879, CADD 25.30, PolyPhen-2 0.52
- R26I (p.Arg26Ile), gnomAD rs1234699637, CADD 32.00, PolyPhen-2 0.99
- R26K (p.Arg26Lys), gnomAD rs1234699637, CADD 28.90, PolyPhen-2 0.97
- L27F (p.Leu27Phe), TOPMed rs2086732153, gnomAD rs2086732153
- L27R (p.Leu27Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L27V (p.Leu27Val), TOPMed rs2086732153, gnomAD rs2086732153
- T28I (p.Thr28Ile), ExAC rs763666988, TOPMed rs763666988, gnomAD rs763666988, CADD 27.50, PolyPhen-2 0.80
- S29F (p.Ser29Phe), ExAC rs762515039, gnomAD rs762515039, CADD 31.00, PolyPhen-2 0.96
- S29P (p.Ser29Pro), Ensembl rs972953841
- S29Y (p.Ser29Tyr), ExAC rs762515039, gnomAD rs762515039, CADD 29.70, PolyPhen-2 0.99
- P31L (p.Pro31Leu), TOPMed rs1291761234, gnomAD rs1291761234, CADD 27.20, PolyPhen-2 1.00, Uncertain significance, Inborn genetic diseases
- P31S (p.Pro31Ser), cosmic curated COSV62227, ExAC rs769433580, CADD 26.50, PolyPhen-2 1.00
- P31T (p.Pro31Thr), ExAC rs769433580, CADD 26.00, PolyPhen-2 1.00
- K33T (p.Lys33Thr), ExAC rs764724925, gnomAD rs764724925, CADD 24.20, PolyPhen-2 0.22
- G34A (p.Gly34Ala), Ensembl rs2134658607
- G34S (p.Gly34Ser), ExAC rs759217642, gnomAD rs759217642, CADD 24.80, PolyPhen-2 0.98
- G35R (p.Gly35Arg), ExAC rs770596972, TOPMed rs770596972, gnomAD rs770596972, CADD 22.50, PolyPhen-2 0.87, Uncertain significance, Inborn genetic diseases
- T36A (p.Thr36Ala), Ensembl rs1678416943
- T36I (p.Thr36Ile), Ensembl rs1438375670, CADD 25.10, PolyPhen-2 0.94
- S37C (p.Ser37Cys), TOPMed rs1378114551, gnomAD rs1378114551, CADD 24.30, PolyPhen-2 0.71, Uncertain significance, Inborn genetic diseases
- S37N (p.Ser37Asn), TOPMed rs1195468983, gnomAD rs1195468983, CADD 22.70, PolyPhen-2 0.03
- S37R (p.Ser37Arg), ESP rs372461473, ExAC rs372461473, TOPMed rs372461473, gnomAD rs372461473, CADD 23.90, PolyPhen-2 0.37
- S37T (p.Ser37Thr), TOPMed rs1195468983, gnomAD rs1195468983, CADD 22.40, PolyPhen-2 0.01
- N38H (p.Asn38His), TOPMed rs2086721527
- N38K (p.Asn38Lys), ExAC rs774708773, TOPMed rs774708773, gnomAD rs774708773, CADD 23.40, PolyPhen-2 0.87, Likely benign
- G39C (p.Gly39Cys), 1000Genomes rs2134658523
- G39V (p.Gly39Val), TOPMed rs1188736719, gnomAD rs1188736719, CADD 26.10, PolyPhen-2 0.99
- Y40C (p.Tyr40Cys), ExAC rs749826443, TOPMed rs749826443, gnomAD rs749826443, CADD 25.60, PolyPhen-2 0.99
- A41P (p.Ala41Pro), TOPMed rs1204059013, gnomAD rs1204059013, CADD 12.30, PolyPhen-2 0.01
- A41S (p.Ala41Ser), TOPMed rs1204059013, gnomAD rs1204059013, CADD 4.52, PolyPhen-2 0.01
- A41V (p.Ala41Val), ExAC rs780169628, gnomAD rs780169628, CADD 23.10, PolyPhen-2 0.09
- T43P (p.Thr43Pro), ExAC rs74887708, gnomAD rs74887708, CADD 22.70, PolyPhen-2 0.23
- A44V (p.Ala44Val), TOPMed rs2086721101
- S45C (p.Ser45Cys), ExAC rs781524207, TOPMed rs781524207, gnomAD rs781524207, CADD 26.60, PolyPhen-2 1.00
- S45F (p.Ser45Phe), ExAC rs781524207, TOPMed rs781524207, gnomAD rs781524207, CADD 27.20, PolyPhen-2 1.00
- S45T (p.Ser45Thr), ExAC rs746072429, gnomAD rs746072429, CADD 24.90, PolyPhen-2 0.98
- G47C (p.Gly47Cys), cosmic curated COSV99056, ExAC rs757578341, gnomAD rs757578341
- G49A (p.Gly49Ala), gnomAD rs1431707848, CADD 22.80, PolyPhen-2 0.17
- S50N (p.Ser50Asn), gnomAD rs1328450949, CADD 23.10, PolyPhen-2 0.12
- S50R (p.Ser50Arg), 1000Genomes rs574075967, ExAC rs574075967, TOPMed rs574075967, gnomAD rs574075967, CADD 19.80, PolyPhen-2 0.30
- R51Q (p.Arg51Gln), rs368882418, ClinGen CA5679546, ClinVar RCV001870378, ClinVar RCV004039604, CADD 24.60, PolyPhen-2 0.94, Uncertain significance, Inborn genetic diseases; not provided
- R51W (p.Arg51Trp), rs371548263, ClinGen CA5679547, ClinVar RCV004444640, ESP rs371548263, CADD 26.70, PolyPhen-2 0.99, Uncertain significance, Inborn genetic diseases
- L52V (p.Leu52Val), Ensembl rs2134658398
- E53G (p.Glu53Gly), ExAC rs758926317, gnomAD rs758926317
- E53Q (p.Glu53Gln), rs1204758676, TOPMed rs1204758676, gnomAD rs1204758676, CADD 25.60, PolyPhen-2 0.99, Variant assessed as somatic; moderate impact.
- Q55K (p.Gln55Lys), ExAC rs753407800, TOPMed rs753407800
- S56N (p.Ser56Asn), gnomAD rs1394179595, CADD 24.30, PolyPhen-2 0.91
- S56T (p.Ser56Thr), gnomAD rs1394179595, CADD 20.00, PolyPhen-2 0.22
- H59Q (p.His59Gln), ExAC rs765954490, TOPMed rs765954490, gnomAD rs765954490, CADD 13.00, PolyPhen-2 0.05, Uncertain significance, Inborn genetic diseases
- G60D (p.Gly60Asp), TOPMed rs2086720444
- S61C (p.Ser61Cys), ExAC rs774692187, gnomAD rs774692187, CADD 24.60, PolyPhen-2 0.82
- S61I (p.Ser61Ile), NCI-TCGA Cosmic COSV6222, cosmic curated COSV62226, Variant assessed as somatic; moderate impact.
- S61N (p.Ser61Asn), TOPMed rs921535737, gnomAD rs921535737, CADD 23.30, PolyPhen-2 0.33
- S62R (p.Ser62Arg), 1000Genomes rs149685665, ExAC rs149685665, TOPMed rs149685665, gnomAD rs149685665, CADD 23.30, PolyPhen-2 0.69, Benign
- G63S (p.Gly63Ser), rs146043118, ESP rs146043118, ExAC rs146043118, TOPMed rs146043118, CADD 16.20, PolyPhen-2 0.01, Uncertain significance, not provided
- Y64* (p.Tyr64Ter), rs1213569173, ClinGen CA378081843, ClinVar RCV003567931, gnomAD rs1213569173, Pathogenic
- I65L (p.Ile65Leu), TOPMed rs1484997397, gnomAD rs1484997397, CADD 21.50, PolyPhen-2 0.00
- I65V (p.Ile65Val), TOPMed rs1484997397, gnomAD rs1484997397, CADD 17.50, PolyPhen-2 0.01
- T68P (p.Thr68Pro), gnomAD rs1215503542, CADD 22.30, PolyPhen-2 0.02
- G69E (p.Gly69Glu), ExAC rs763187704, gnomAD rs763187704, CADD 25.40, PolyPhen-2 1.00
- G69V (p.Gly69Val), ExAC rs763187704, gnomAD rs763187704, CADD 26.60, PolyPhen-2 1.00
- S70I (p.Ser70Ile), TOPMed rs2086711409
- S70R (p.Ser70Arg), ExAC rs775946356, TOPMed rs775946356, gnomAD rs775946356, CADD 24.30, PolyPhen-2 0.96, Uncertain significance, Inborn genetic diseases
- R72* (p.Arg72Ter), rs760094345, ClinGen CA5679516, cosmic curated COSV62228, ClinVar RCV000710066, CADD 34.00, Pathogenic
- R72G (p.Arg72Gly), ExAC rs760094345, TOPMed rs760094345, gnomAD rs760094345, CADD 22.30, PolyPhen-2 0.99, Pathogenic
- R72L (p.Arg72Leu), ESP rs11191917, ExAC rs11191917, TOPMed rs11191917, gnomAD rs11191917
- R72Q (p.Arg72Gln), ESP rs11191917, ExAC rs11191917, TOPMed rs11191917, gnomAD rs11191917, CADD 24.90, PolyPhen-2 0.99
- G73V (p.Gly73Val), Ensembl rs1419160406
- H74L (p.His74Leu), gnomAD rs1352482674, CADD 15.00, PolyPhen-2 0.00
- H74Y (p.His74Tyr), ESP rs137885434, TOPMed rs137885434
- A75S (p.Ala75Ser), Ensembl rs964104907
- A75V (p.Ala75Val), TOPMed rs1160585914, CADD 15.80, PolyPhen-2 0.01
- S76F (p.Ser76Phe), 1000Genomes rs372326256, ESP rs372326256, ExAC rs372326256, TOPMed rs372326256, CADD 26.10
- T77I (p.Thr77Ile), ExAC rs773524594, TOPMed rs773524594, gnomAD rs773524594, CADD 25.10, PolyPhen-2 0.60
- T77N (p.Thr77Asn), ExAC rs773524594, TOPMed rs773524594, gnomAD rs773524594, CADD 22.20, PolyPhen-2 0.25
- S78A (p.Ser78Ala), TOPMed rs2086710984
- S78C (p.Ser78Cys), 1000Genomes rs143483397, ESP rs143483397, ExAC rs143483397, TOPMed rs143483397, CADD 26.40, PolyPhen-2 1.00, Uncertain significance, not provided
- S79G (p.Ser79Gly), NCI-TCGA Cosmic COSV6222, cosmic curated COSV62227, TOPMed rs2086710860, CADD 19.50, PolyPhen-2 0.03, Variant assessed as somatic; moderate impact.
- R81G (p.Arg81Gly), rs1408334953, ClinGen CA378081469, ClinVar RCV002805128, TOPMed rs1408334953, CADD 24.90, PolyPhen-2 0.81, Uncertain significance, Inborn genetic diseases
- R82K (p.Arg82Lys), Ensembl rs2086710768, CADD 23.20, PolyPhen-2 0.23
- R82S (p.Arg82Ser), TOPMed rs1026310165, Likely benign
- A83S (p.Ala83Ser), TOPMed rs2086710703, CADD 19.40, PolyPhen-2 0.20
- A83T (p.Ala83Thr), TOPMed rs2086710703, CADD 20.10, PolyPhen-2 0.02
- H84P (p.His84Pro), ExAC rs754865574, TOPMed rs754865574, gnomAD rs754865574, Uncertain significance
- H84R (p.His84Arg), ExAC rs754865574, TOPMed rs754865574, gnomAD rs754865574, CADD 15.20, PolyPhen-2 0.00, Uncertain significance, Inborn genetic diseases
- P86L (p.Pro86Leu), ExAC rs749279566, gnomAD rs749279566, Uncertain significance, Inborn genetic diseases
- A87P (p.Ala87Pro), ExAC rs755660814, gnomAD rs755660814, CADD 24.10, PolyPhen-2 0.52
- A87V (p.Ala87Val), cosmic curated COSV62228, ExAC rs749967227, gnomAD rs749967227, CADD 23.90, PolyPhen-2 0.33
- S88F (p.Ser88Phe), TOPMed rs1589577980, gnomAD rs1589577980, CADD 27.80
- S88Y (p.Ser88Tyr), TOPMed rs1589577980, gnomAD rs1589577980, CADD 26.90, PolyPhen-2 1.00
- T89S (p.Thr89Ser), Ensembl rs2086710421, CADD 23.60, PolyPhen-2 0.98
- P91L (p.Pro91Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P91S (p.Pro91Ser), cosmic curated COSV62225, TOPMed rs1321190167, gnomAD rs1321190167, CADD 21.20, PolyPhen-2 0.24
- P94T (p.Pro94Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G95D (p.Gly95Asp), 1000Genomes rs538962685, ExAC rs538962685, TOPMed rs538962685, gnomAD rs538962685, CADD 24.50, PolyPhen-2 0.97, Uncertain significance
- G95S (p.Gly95Ser), cosmic curated COSV62227, gnomAD rs1275247583, CADD 25.60, PolyPhen-2 0.98
- G95V (p.Gly95Val), rs538962685, ClinGen CA5679502, ClinVar RCV001108222, 1000Genomes rs538962685, CADD 24.40, PolyPhen-2 0.99, Uncertain significance, Junctional epidermolysis bullosa, non-Herlitz type
- S96* (p.Ser96Ter), rs2493387507, ClinGen CA378081201, ClinVar RCV003690859, Pathogenic
- S96L (p.Ser96Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T97A (p.Thr97Ala), rs139344319, ClinGen CA5679500, ClinVar RCV003909793, ClinVar RCV005256942, CADD 25.90, PolyPhen-2 0.98, Uncertain significance, not provided
- T97S (p.Thr97Ser), rs139344319, ClinGen CA378081191, ClinVar RCV001931491, ClinVar RCV005542592, CADD 23.80, Uncertain significance, Inborn genetic diseases; not provided
- F98L (p.Phe98Leu), gnomAD rs1225324653, CADD 18.60, PolyPhen-2 0.97
- F98Y (p.Phe98Tyr), ExAC rs760110852
- E99D (p.Glu99Asp), TOPMed rs1202683877, gnomAD rs1202683877, CADD 15.90
- E99Q (p.Glu99Gln), NCI-TCGA Cosmic COSV6222, cosmic curated COSV62228, Variant assessed as somatic; moderate impact.
- R100S (p.Arg100Ser), TOPMed rs898789292, gnomAD rs898789292, CADD 25.00, PolyPhen-2 0.99
- T102A (p.Thr102Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T102I (p.Thr102Ile), TOPMed rs1371127844, gnomAD rs1371127844, CADD 14.20, PolyPhen-2 0.00
- T102P (p.Thr102Pro), Ensembl rs1589577952
- H103Y (p.His103Tyr), Ensembl rs2134656162
- V104I (p.Val104Ile), rs766539630, NCI-TCGA Cosmic COSV6222, cosmic curated COSV62226, ExAC rs766539630, CADD 0.56, PolyPhen-2 0.00, Variant assessed as somatic; moderate impact.
- T105P (p.Thr105Pro), cosmic curated COSV10743, Ensembl rs1589577940
- T105S (p.Thr105Ser), Ensembl rs1041730076
- R106C (p.Arg106Cys), rs146267259, ClinGen CA5679496, ClinVar RCV000402286, ClinVar RCV001354311, CADD 26.90, PolyPhen-2 0.88, Uncertain significance, not provided; Junctional epidermolysis bullosa, non-Herlitz type
- R106H (p.Arg106His), rs529850690, NCI-TCGA Cosmic COSV6222, cosmic curated COSV62225, 1000Genomes rs529850690, CADD 22.40, PolyPhen-2 0.03, Variant assessed as somatic; moderate impact.
- R106L (p.Arg106Leu), 1000Genomes rs529850690, ExAC rs529850690, TOPMed rs529850690, gnomAD rs529850690, CADD 23.70, PolyPhen-2 0.65
- R106P (p.Arg106Pro), 1000Genomes rs529850690, ExAC rs529850690, TOPMed rs529850690, gnomAD rs529850690
- H107D (p.His107Asp), TOPMed rs1428225678, CADD 22.60, PolyPhen-2 0.87
- H107Q (p.His107Gln), TOPMed rs1359342982, gnomAD rs1359342982, CADD 11.10, PolyPhen-2 0.24
- H107R (p.His107Arg), TOPMed rs1247421367, gnomAD rs1247421367, CADD 21.70, PolyPhen-2 0.81
- H107Y (p.His107Tyr), TOPMed rs1428225678
- A108E (p.Ala108Glu), 1000Genomes rs185337666, TOPMed rs185337666, gnomAD rs185337666, CADD 23.10, PolyPhen-2 0.60
- A108G (p.Ala108Gly), 1000Genomes rs185337666, TOPMed rs185337666, gnomAD rs185337666, CADD 19.60, PolyPhen-2 0.39
- A108V (p.Ala108Val), 1000Genomes rs185337666, TOPMed rs185337666, gnomAD rs185337666, CADD 18.30, PolyPhen-2 0.01
- Y109N (p.Tyr109Asn), Ensembl rs2086709499
- Y109S (p.Tyr109Ser), gnomAD rs1402901883, CADD 24.40, PolyPhen-2 1.00
- G111W (p.Gly111Trp), Ensembl rs1589577905
- S112N (p.Ser112Asn), ExAC rs750463602, gnomAD rs750463602, CADD 25.40, PolyPhen-2 0.70
- S112T (p.Ser112Thr), ExAC rs750463602, gnomAD rs750463602, CADD 25.40, PolyPhen-2 0.82
- S114G (p.Ser114Gly), 1000Genomes rs565675634, ExAC rs565675634, gnomAD rs565675634, CADD 27.00
- S114N (p.Ser114Asn), ESP rs372557455, ExAC rs372557455, CADD 25.50, PolyPhen-2 0.87
- P119L (p.Pro119Leu), cosmic curated COSV62225, TOPMed rs1044796291, gnomAD rs1044796291, CADD 28.80, PolyPhen-2 1.00
- E120Q (p.Glu120Gln), TOPMed rs926181003
- Y121S (p.Tyr121Ser), Ensembl rs1589576987
- P122L (p.Pro122Leu), rs1356975720, ClinGen CA378080356, cosmic curated COSV10606, ClinVar RCV001106004, CADD 26.10, PolyPhen-2 0.71, Uncertain significance, Junctional epidermolysis bullosa, non-Herlitz type
- P122R (p.Pro122Arg), TOPMed rs1356975720, Uncertain significance
- P122S (p.Pro122Ser), rs762687138, ClinGen CA5679472, ClinVar RCV003211531, ExAC rs762687138, CADD 22.80, PolyPhen-2 0.20, Uncertain significance, Inborn genetic diseases
- P122T (p.Pro122Thr), NCI-TCGA Cosmic COSV6222, cosmic curated COSV62227, Variant assessed as somatic; moderate impact.
- R123L (p.Arg123Leu), ExAC rs775277648, TOPMed rs775277648, gnomAD rs775277648, CADD 27.70, PolyPhen-2 0.97, Uncertain significance, Inborn genetic diseases
- R123Q (p.Arg123Gln), cosmic curated COSV10968, ExAC rs775277648, TOPMed rs775277648, gnomAD rs775277648, CADD 28.20, PolyPhen-2 0.97
- R123W (p.Arg123Trp), rs1307900387, ClinGen CA378080353, cosmic curated COSV62225, ClinVar RCV001106003, CADD 32.00, PolyPhen-2 0.99, Uncertain significance, Junctional epidermolysis bullosa, non-Herlitz type
- E125K (p.Glu125Lys), cosmic curated COSV62228, 1000Genomes rs535452126, ExAC rs535452126, gnomAD rs535452126, CADD 26.40, PolyPhen-2 0.84
- F126V (p.Phe126Val), NCI-TCGA Cosmic COSV6222, cosmic curated COSV62228, Variant assessed as somatic; moderate impact.
- A127E (p.Ala127Glu), rs369673766, ClinGen CA5679453, ClinVar RCV004444655, ESP rs369673766, CADD 27.10, PolyPhen-2 0.78, Uncertain significance, Inborn genetic diseases
- A127G (p.Ala127Gly), ESP rs369673766, ExAC rs369673766, TOPMed rs369673766, gnomAD rs369673766, CADD 19.20, PolyPhen-2 0.02, Uncertain significance
- S128T (p.Ser128Thr), rs776673961, ClinGen CA5679451, ClinVar RCV001106002, ClinVar RCV005540277, CADD 21.10, PolyPhen-2 0.01, Uncertain significance, Junctional epidermolysis bullosa, non-Herlitz type; Inborn genetic diseases
- S128Y (p.Ser128Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S129P (p.Ser129Pro), TOPMed rs2086682906
- S130L (p.Ser130Leu), gnomAD rs1460614904, CADD 27.10, PolyPhen-2 0.01
- R132* (p.Arg132Ter), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10079, CADD 36.00, Variant assessed as somatic; high impact.
- R132T (p.Arg132Thr), 1000Genomes rs144940994, ExAC rs144940994, TOPMed rs144940994, gnomAD rs144940994, CADD 28.00, PolyPhen-2 0.99
- G133E (p.Gly133Glu), ESP rs377510926, ExAC rs377510926, TOPMed rs377510926, gnomAD rs377510926, CADD 27.40, PolyPhen-2 1.00
- G133R (p.Gly133Arg), 1000Genomes rs528672463, ExAC rs528672463, TOPMed rs528672463, gnomAD rs528672463, CADD 26.60, PolyPhen-2 1.00
- R134P (p.Arg134Pro), ESP rs200879559, ExAC rs200879559, TOPMed rs200879559, gnomAD rs200879559, CADD 32.00, PolyPhen-2 1.00
- R134Q (p.Arg134Gln), cosmic curated COSV62228, ESP rs200879559, ExAC rs200879559, TOPMed rs200879559, CADD 32.00, PolyPhen-2 0.99, Uncertain significance, Inborn genetic diseases
- R134W (p.Arg134Trp), ExAC rs756585525, TOPMed rs756585525, gnomAD rs756585525, CADD 26.90, PolyPhen-2 1.00
Public COL17A1 analysis runs
- COL17A1 analysis run — COL17A1 (2,118 variants) — completed 2026-08-22