COL7A1 (Collagen alpha-1(VII) chain) variants and mutations
COL7A1 (also known as Collagen alpha-1(VII) chain) is a human protein-coding gene encoding a collagen alpha-1(VII) chain protein. It forms anchoring fibrils that secure the epidermal basement membrane to the underlying dermis. Pathogenic variants cause dystrophic epidermolysis bullosa, with skin fragility and scarring ranging from localized disease to severe generalized forms with major complications. This analysis covers 4,078 COL7A1 variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes recessive dystrophic epidermolysis bullosa, generalized dominant dystrophic epidermolysis bullosa, and dystrophic epidermolysis bullosa pruriginosa. Example COL7A1 variants include M1I, M1R, and M1V.
Variant analysis overview
- Gene: COL7A1
- Protein: Collagen alpha-1(VII) chain
- UniProt accession: Q02388
- Organism: Homo sapiens
- Variants analyzed: 4078
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 3,913 unspecified-consequence records; 85 missense variants; 62 synonymous variants; 2 splice-region variants; 8 frameshift variants; 6 stop-gained variants; 2 in-frame deletions; 1 substitution
- Prediction scores: 3,032 variants have prediction scores (74% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: recessive dystrophic epidermolysis bullosa, generalized dominant dystrophic epidermolysis bullosa, dystrophic epidermolysis bullosa pruriginosa, transient bullous dermolysis of the newborn, pretibial dystrophic epidermolysis bullosa, Dystrophic epidermolysis bullosa, nonsyndromic congenital nail disorder 8, recessive dystrophic epidermolysis bullosa inversa, Isolated nail anomaly, epidermolysis bullosa dystrophica, epidermolysis bullosa, Epidermolysis bullosa simplex, Dowling-Meara type.
Protein structure and variant hotspots
- Protein features: 12 domains; 19 post-translational modification sites.
- Structural context: 1,646 variants have structural context.
- PTM context: 22 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable COL7A1 variants
Examples include M1I, M1R, M1V, T2M, T2S, R4Q, R4W, L5F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs2531378919, ClinGen CA352750721, ClinVar RCV003555086, Pathogenic, not provided
- M1R (p.Met1Arg), rs2531378940, ClinGen CA352750729, ClinVar RCV002885122, Pathogenic, not provided
- M1V (p.Met1Val), rs1064797078, ClinGen CA16621531, ClinVar RCV000487444, ClinVar RCV000579087, MetaLR 0.36, MetaSVM -0.32, Pathogenic
- T2M (p.Thr2Met), Ensembl rs1335363915, CADD 15.90, PolyPhen-2 0.00
- T2S (p.Thr2Ser), gnomAD rs1479857135
- R4Q (p.Arg4Gln), TOPMed rs2045993672, CADD 16.90, PolyPhen-2 0.00
- R4W (p.Arg4Trp), Ensembl rs938425936, CADD 19.30, PolyPhen-2 0.00
- L5F (p.Leu5Phe), 1000Genomes rs201242396, ESP rs201242396, ExAC rs201242396, TOPMed rs201242396, CADD 18.50, PolyPhen-2 0.00, Likely benign
- L5P (p.Leu5Pro), rs2531378635, ClinGen CA352750634, ClinVar RCV002820594, Uncertain significance, not provided
- L5V (p.Leu5Val), rs201242396, ClinGen CA2381684, ClinVar RCV001146737, ClinVar RCV002070780, CADD 14.50, PolyPhen-2 0.00, Conflicting interpretations, Epidermolysis bullosa dystrophica; not provided
- L6P (p.Leu6Pro), rs2531378579, ClinGen CA352750618, ClinVar RCV003859055, CADD 24.30, PolyPhen-2 1.00, Uncertain significance, not provided
- L6V (p.Leu6Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V7M (p.Val7Met), ExAC rs771825646, gnomAD rs771825646, CADD 12.10, PolyPhen-2 0.03
- A9T (p.Ala9Thr), rs982567193, ClinGen CA73995108, ClinVar RCV003077661, gnomAD rs982567193, CADD 14.40, PolyPhen-2 0.00, Uncertain significance, not provided
- A9V (p.Ala9Val), rs533528646, ClinGen CA2381682, ClinVar RCV002629824, ClinVar RCV003269523, CADD 8.90, PolyPhen-2 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- L10F (p.Leu10Phe), rs1346272373, ClinGen CA352750558, ClinVar RCV002048439, gnomAD rs1346272373, CADD 22.80, PolyPhen-2 0.80, Uncertain significance, not provided
- A12T (p.Ala12Thr), ExAC rs771137614, gnomAD rs771137614, CADD 13.90, PolyPhen-2 0.04
- A12V (p.Ala12Val), ExAC rs749361700, TOPMed rs749361700, gnomAD rs749361700, CADD 13.00, PolyPhen-2 0.00
- G13A (p.Gly13Ala), rs2045990762, ClinGen CA352750499, ClinVar RCV002800083, TOPMed rs2045990762, CADD 10.40, PolyPhen-2 0.07, Uncertain significance, not provided
- G13R (p.Gly13Arg), rs773363147, ClinGen CA2381678, ClinVar RCV002766634, ExAC rs773363147, CADD 8.92, PolyPhen-2 0.29, Likely benign, not provided
- L15P (p.Leu15Pro), Ensembl rs2045990609, CADD 2.82
- E17Q (p.Glu17Gln), rs748723344, ClinGen CA2381676, ClinVar RCV002751296, ClinVar RCV006269708, CADD 14.20, PolyPhen-2 0.01, Uncertain significance, not specified; not provided
- A18E (p.Ala18Glu), rs563053737, ClinGen CA73995077, ClinVar RCV002622454, 1000Genomes rs563053737, CADD 22.40, PolyPhen-2 0.49, Likely benign, not provided
- A18P (p.Ala18Pro), TOPMed rs1468805316, gnomAD rs1468805316
- A18T (p.Ala18Thr), TOPMed rs1468805316, gnomAD rs1468805316, CADD 19.10, PolyPhen-2 0.16
- A18V (p.Ala18Val), 1000Genomes rs563053737, TOPMed rs563053737, gnomAD rs563053737, CADD 18.80, PolyPhen-2 0.02, Likely benign
- P19L (p.Pro19Leu), gnomAD rs1474722164, CADD 20.20, PolyPhen-2 0.00
- R20* (p.Arg20Ter), rs886039562, ClinGen CA10588369, ClinVar RCV000254769, ClinVar RCV005031840, CADD 34.00, Pathogenic
- R20P (p.Arg20Pro), rs755340663, ClinGen CA2381674, ClinVar RCV000263342, ClinVar RCV000944574, CADD 20.10, PolyPhen-2 0.11, Likely benign
- R20Q (p.Arg20Gln), rs755340663, ClinGen CA352750329, ClinVar RCV002598391, NCI-TCGA TCGA novel, CADD 18.20, PolyPhen-2 0.02, Uncertain significance, not provided
- V21L (p.Val21Leu), rs377112899, ClinGen CA2381672, ClinVar RCV001144775, ClinVar RCV001280171, CADD 17.70, PolyPhen-2 0.00, Conflicting interpretations, not provided; Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa
- V21M (p.Val21Met), rs377112899, ClinGen CA352750308, ClinVar RCV002602871, ClinVar RCV005323359, CADD 22.70, PolyPhen-2 0.09, Uncertain significance, Inborn genetic diseases; not specified; not provided
- R22* (p.Arg22Ter), Ensembl rs1559444829, CADD 34.00
- R22Q (p.Arg22Gln), rs537748623, ClinGen CA73995063, ClinVar RCV003082017, TOPMed rs537748623, CADD 19.50, PolyPhen-2 0.00, Likely benign, not provided
- Q24P (p.Gln24Pro), TOPMed rs929295360, gnomAD rs929295360, CADD 25.90, PolyPhen-2 0.65, Uncertain significance, Inborn genetic diseases; not provided
- Q24R (p.Gln24Arg), rs929295360, ClinGen CA352750243, ClinVar RCV002750226, CADD 25.00, PolyPhen-2 0.45, Uncertain significance, not provided
- H25Y (p.His25Tyr), gnomAD rs1220810373, CADD 14.90, PolyPhen-2 0.02
- R26G (p.Arg26Gly), rs923284415, ClinGen CA73995060, ClinVar RCV001984767, TOPMed rs923284415, CADD 13.90, PolyPhen-2 0.00, Uncertain significance, Inborn genetic diseases; not provided
- R26K (p.Arg26Lys), Ensembl rs963992970, CADD 18.40, PolyPhen-2 0.02
- R26T (p.Arg26Thr), Ensembl rs963992970, CADD 19.10, PolyPhen-2 0.02
- E27* (p.Glu27Ter), rs2107811815, ClinGen CA352750194, ClinVar RCV001953811, Ensembl rs2107811815, CADD 37.00, Pathogenic
- E27G (p.Glu27Gly), rs2107811799, ClinGen CA352750189, ClinVar RCV002004429, ClinVar RCV004785450, AlphaMissense 0.11, MetaLR 0.39, Uncertain significance, Generalized dominant dystrophic epidermolysis bullosa; not specified; not provid
- E27V (p.Glu27Val), rs2107811799, ClinGen CA352750187, ClinVar RCV002277071, Ensembl rs2107811799, AlphaMissense 0.11, MetaLR 0.39, Uncertain significance, Recessive dystrophic epidermolysis bullosa
- R28G (p.Arg28Gly), rs1328022633, ClinGen CA352750167, ClinVar RCV003555085, gnomAD rs1328022633, CADD 25.00, PolyPhen-2 0.00, Likely pathogenic, not provided
- R28K (p.Arg28Lys), rs1334243008, gnomAD rs1334243008, CADD 22.30, PolyPhen-2 0.02, Variant assessed as somatic; moderate impact.
- R28T (p.Arg28Thr), gnomAD rs1334243008
- V29A (p.Val29Ala), NCI-TCGA TCGA novel, Ensembl rs2045939582, CADD 23.10, PolyPhen-2 0.94, Variant assessed as somatic; moderate impact.
- V29L (p.Val29Leu), rs2107811679, ClinGen CA352750114, ClinVar RCV001959500, Ensembl rs2107811679, CADD 33.00, PolyPhen-2 0.94, Uncertain significance, not provided
- T30I (p.Thr30Ile), rs74453879, ClinGen CA2381652, ClinVar RCV000353546, ClinVar RCV000964915, CADD 21.80, PolyPhen-2 0.01, Benign
- T30P (p.Thr30Pro), ExAC rs758672611, gnomAD rs758672611, CADD 24.40, PolyPhen-2 0.19
- C31R (p.Cys31Arg), ExAC rs777372646, gnomAD rs777372646, CADD 29.50, PolyPhen-2 0.99
- C31Y (p.Cys31Tyr), gnomAD rs1303123894, CADD 26.50, PolyPhen-2 0.99
- T32A (p.Thr32Ala), TOPMed rs2045938225
- T32K (p.Thr32Lys), rs775869590, ClinGen CA352749987, ClinVar RCV003024066, AlphaMissense 0.15, MetaLR 0.89, Uncertain significance, not provided
- T32M (p.Thr32Met), rs775869590, ClinGen CA352749984, ClinVar RCV003068710, TOPMed rs775869590, AlphaMissense 0.15, MetaLR 0.89, Uncertain significance, not provided
- T32R (p.Thr32Arg), TOPMed rs775869590, gnomAD rs775869590, AlphaMissense 0.15, MetaLR 0.89, Uncertain significance
- R33C (p.Arg33Cys), ExAC rs752151347, gnomAD rs752151347, CADD 28.70, PolyPhen-2 0.45
- R33H (p.Arg33His), rs767387822, ClinGen CA2381647, ClinVar RCV001945558, ExAC rs767387822, CADD 23.00, PolyPhen-2 0.00, Uncertain significance, not provided
- L34F (p.Leu34Phe), TOPMed rs2045937244, CADD 22.60, PolyPhen-2 0.12
- L34I (p.Leu34Ile), TOPMed rs2045937244
- Y35* (p.Tyr35Ter), rs751325519, ClinGen CA2381644, ClinVar RCV001384196, ExAC rs751325519, CADD 35.00, Pathogenic
- A36T (p.Ala36Thr), rs766254851, ClinGen CA2381643, ClinVar RCV002660906, ClinVar RCV005631109, CADD 22.80, PolyPhen-2 0.54, Uncertain significance, not provided; Inborn genetic diseases
- A36V (p.Ala36Val), rs1490442225, NCI-TCGA Cosmic COSV9917, gnomAD rs1490442225, AlphaMissense 0.21, MetaLR 0.82, Variant assessed as somatic; moderate impact.
- A37G (p.Ala37Gly), ESP rs371000403, ExAC rs371000403, TOPMed rs371000403, gnomAD rs371000403, CADD 25.50, PolyPhen-2 0.99
- A37S (p.Ala37Ser), gnomAD rs2045936120, CADD 28.40, PolyPhen-2 1.00
- A37V (p.Ala37Val), ESP rs371000403, ExAC rs371000403, TOPMed rs371000403, gnomAD rs371000403
- I39L (p.Ile39Leu), ExAC rs773612591, gnomAD rs773612591, CADD 26.80, PolyPhen-2 0.65
- I39V (p.Ile39Val), ExAC rs773612591, gnomAD rs773612591, CADD 22.60, PolyPhen-2 0.31
- V40G (p.Val40Gly), ExAC rs765536524, gnomAD rs765536524, CADD 27.10, PolyPhen-2 0.54
- F41Y (p.Phe41Tyr), rs1229666551, ClinGen CA352749854, ClinVar RCV003118115, gnomAD rs1229666551, CADD 29.00, PolyPhen-2 0.96, Uncertain significance, not provided; Inborn genetic diseases
- L43P (p.Leu43Pro), rs149317921, ClinGen CA2381638, ClinVar RCV001921198, ClinVar RCV005238068, CADD 28.10, PolyPhen-2 0.88, Uncertain significance, not provided; not specified
- S47L (p.Ser47Leu), rs1201768818, TOPMed rs1201768818, gnomAD rs1201768818, CADD 32.00, Uncertain significance, not specified
- S48F (p.Ser48Phe), rs2531366088, ClinGen CA352749754, ClinVar RCV003665476, ClinVar RCV006269863, CADD 32.00, PolyPhen-2 1.00, Pathogenic, Recessive dystrophic epidermolysis bullosa; not provided
- I49T (p.Ile49Thr), rs1481032900, ClinGen CA352749735, ClinVar RCV003107283, TOPMed rs1481032900, CADD 29.60, PolyPhen-2 1.00, Uncertain significance, not provided
- R51C (p.Arg51Cys), rs775852765, NCI-TCGA Cosmic COSV5255, ExAC rs775852765, gnomAD rs775852765, CADD 32.00, PolyPhen-2 1.00, Likely pathogenic
- R51G (p.Arg51Gly), rs775852765, ClinGen CA2381633, ClinVar RCV002651703, ClinVar RCV004783028, CADD 27.60, PolyPhen-2 0.97, Conflicting interpretations, not provided; not specified; Nonsyndromic congenital nail disorder 8
- S52G (p.Ser52Gly), TOPMed rs1043728109, gnomAD rs1043728109, CADD 16.60, PolyPhen-2 0.00
- N53D (p.Asn53Asp), Ensembl rs2045932214
- N53S (p.Asn53Ser), rs772466271, ClinGen CA2381632, ClinVar RCV000299092, ClinVar RCV004701437, CADD 27.30, PolyPhen-2 0.95, Uncertain significance
- F54L (p.Phe54Leu), TOPMed rs2045931796, CADD 22.00, PolyPhen-2 0.39
- R55A (p.Arg55Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- R55C (p.Arg55Cys), rs746208298, ClinGen CA2381631, ClinVar RCV002571672, ExAC rs746208298, CADD 24.30, PolyPhen-2 0.02, Uncertain significance, not provided
- R55H (p.Arg55His), ExAC rs777424175, TOPMed rs777424175, gnomAD rs777424175, CADD 23.70, PolyPhen-2 0.71
- R55S (p.Arg55Ser), ExAC rs746208298, TOPMed rs746208298, gnomAD rs746208298, Uncertain significance
- V57A (p.Val57Ala), TOPMed rs1242317614, gnomAD rs1242317614, CADD 27.70, PolyPhen-2 0.75
- V57F (p.Val57Phe), ExAC rs769398524, gnomAD rs769398524, CADD 23.90, PolyPhen-2 0.98
- R58C (p.Arg58Cys), rs780696923, ClinGen CA2381627, ClinVar RCV002029115, ExAC rs780696923, CADD 25.10, PolyPhen-2 0.03, Likely benign, not provided
- R58G (p.Arg58Gly), ExAC rs780696923, TOPMed rs780696923, gnomAD rs780696923, Likely benign
- R58H (p.Arg58His), TOPMed rs1197660529, gnomAD rs1197660529, CADD 26.20, PolyPhen-2 0.78
- S59G (p.Ser59Gly), rs2531365411, ClinGen CA352749587, ClinVar RCV003038786, CADD 8.29, PolyPhen-2 0.00, Uncertain significance, not provided
- S59R (p.Ser59Arg), rs200674956, ClinGen CA2381626, ClinVar RCV001867812, 1000Genomes rs200674956, CADD 15.00, PolyPhen-2 0.01, Likely benign, not provided
- S59T (p.Ser59Thr), gnomAD rs1261970889, CADD 12.70, PolyPhen-2 0.04
- E62* (p.Glu62Ter), rs2531365245, ClinGen CA352749566, ClinVar RCV003677530, CADD 36.00, Pathogenic
- E62D (p.Glu62Asp), TOPMed rs1314442545, gnomAD rs1314442545, CADD 22.50
- G63V (p.Gly63Val), NCI-TCGA Cosmic COSV5255, NCI-TCGA Cosmic COSV9917, Variant assessed as somatic; moderate impact.
- L64P (p.Leu64Pro), gnomAD rs1251469053, CADD 32.00, PolyPhen-2 0.98
- V65L (p.Val65Leu), ExAC rs779828119, gnomAD rs779828119, CADD 23.80, PolyPhen-2 0.27
- L66P (p.Leu66Pro), rs2531364934, ClinGen CA352749506, ClinVar RCV002848114, CADD 23.70, PolyPhen-2 0.48, Uncertain significance, not provided
- P67L (p.Pro67Leu), Ensembl rs2045928219
- P67S (p.Pro67Ser), TOPMed rs947277804
- F68I (p.Phe68Ile), ESP rs140978063, ExAC rs140978063
- F68Y (p.Phe68Tyr), Ensembl rs2045927931, CADD 31.00, PolyPhen-2 0.98
- G70E (p.Gly70Glu), Ensembl rs929710317
- G70R (p.Gly70Arg), rs1559442896, ClinGen CA352749446, ClinVar RCV003357653, Ensembl rs1559442896, CADD 21.10, PolyPhen-2 0.04, Uncertain significance, Inborn genetic diseases
- A71T (p.Ala71Thr), gnomAD rs1405373241
- A72D (p.Ala72Asp), rs138319290, ClinGen CA2381621, ClinVar RCV001280170, ClinVar RCV003738036, CADD 24.50, PolyPhen-2 0.70, Benign, not provided
- A72P (p.Ala72Pro), rs2531364518, ClinGen CA352749404, ClinVar RCV003825676, Uncertain significance, not provided
- S73G (p.Ser73Gly), TOPMed rs1244756574
- S73N (p.Ser73Asn), Ensembl rs2045926529
- A74T (p.Ala74Thr), rs753989945, ClinGen CA2381619, ClinVar RCV002592321, ClinVar RCV005812060, CADD 17.90, PolyPhen-2 0.10, Uncertain significance, Inborn genetic diseases; not provided
- A74V (p.Ala74Val), rs764297570, ClinGen CA2381618, ClinVar RCV003077481, ClinVar RCV005812030, CADD 22.20, PolyPhen-2 0.16, Uncertain significance, Inborn genetic diseases; not provided
- G76D (p.Gly76Asp), rs1420002915, ClinGen CA352749340, ClinVar RCV003085712, gnomAD rs1420002915, CADD 27.00, PolyPhen-2 0.95, Uncertain significance, not provided
- G76R (p.Gly76Arg), rs2045925638, ClinGen CA352749346, ClinVar RCV002626606, TOPMed rs2045925638, CADD 27.20, PolyPhen-2 0.64, Uncertain significance, not provided
- G76V (p.Gly76Val), gnomAD rs1420002915, CADD 26.70, PolyPhen-2 0.98, Uncertain significance
- V77M (p.Val77Met), TOPMed rs531066928, gnomAD rs531066928, CADD 28.40, PolyPhen-2 0.98, Uncertain significance, not provided
- R78C (p.Arg78Cys), 1000Genomes rs200381437, ExAC rs200381437, gnomAD rs200381437, CADD 33.00, PolyPhen-2 0.97, Uncertain significance, not provided
- R78G (p.Arg78Gly), 1000Genomes rs200381437, ExAC rs200381437, gnomAD rs200381437, CADD 26.50, PolyPhen-2 0.24
- R78H (p.Arg78His), rs866241910, NCI-TCGA Cosmic COSV5255, gnomAD rs866241910, CADD 25.40, PolyPhen-2 0.31, Variant assessed as somatic; moderate impact.
- R78L (p.Arg78Leu), gnomAD rs866241910, CADD 29.80, PolyPhen-2 0.93
- R78S (p.Arg78Ser), 1000Genomes rs200381437, ExAC rs200381437, gnomAD rs200381437, CADD 25.70, PolyPhen-2 0.24
- Q83* (p.Gln83Ter), rs2531363692, ClinGen CA352749236, ClinVar RCV002828219, CADD 39.00, Pathogenic
- Y84C (p.Tyr84Cys), Ensembl rs1190479562
- S85I (p.Ser85Ile), gnomAD rs1483968999, CADD 28.20, PolyPhen-2 0.98, Uncertain significance, not provided
- D86N (p.Asp86Asn), rs1227369277, ClinGen CA352749176, ClinVar RCV003075897, ClinVar RCV003491235, CADD 25.10, PolyPhen-2 0.57, Uncertain significance, not specified; not provided
- D87N (p.Asp87Asn), TOPMed rs2045923196
- P88A (p.Pro88Ala), gnomAD rs1300288484, CADD 22.60, PolyPhen-2 0.43
- P88T (p.Pro88Thr), gnomAD rs1300288484
- R89Q (p.Arg89Gln), TOPMed rs942484654, gnomAD rs942484654, CADD 24.80, PolyPhen-2 0.02, Uncertain significance, Epidermolysis bullosa dystrophica
- R89W (p.Arg89Trp), TOPMed rs1382309347, gnomAD rs1382309347, CADD 32.00, PolyPhen-2 0.87
- T90I (p.Thr90Ile), Ensembl rs2045872298
- E91Q (p.Glu91Gln), ExAC rs768148366, gnomAD rs768148366, CADD 26.10, PolyPhen-2 1.00, Uncertain significance, Epidermolysis bullosa dystrophica
- F92L (p.Phe92Leu), rs746563255, ClinGen CA352748911, ClinVar RCV002265154, ExAC rs746563255, CADD 23.40, PolyPhen-2 0.97, Uncertain significance, not provided
- G93D (p.Gly93Asp), rs151246821, ClinGen CA2381587, ClinVar RCV003085798, ESP rs151246821, CADD 17.70, PolyPhen-2 0.00, Likely benign, not provided
- G93S (p.Gly93Ser), rs758306555, ClinGen CA2381588, ClinVar RCV002999138, ClinVar RCV004065236, CADD 14.10, PolyPhen-2 0.00, Likely benign, Inborn genetic diseases; not provided
- D95H (p.Asp95His), rs2045870877, ClinGen CA352748884, ClinVar RCV002667639, AlphaMissense 0.11, MetaLR 0.54, Uncertain significance, not provided
- D95N (p.Asp95Asn), TOPMed rs2045870877, gnomAD rs2045870877, AlphaMissense 0.11, MetaLR 0.54
- D95Y (p.Asp95Tyr), rs2107802249, ClinGen CA2573137053, ClinVar RCV001900662, Ensembl rs2107802249, Uncertain significance, not provided
- A96V (p.Ala96Val), ExAC rs757123441, gnomAD rs757123441, CADD 22.90, PolyPhen-2 0.18
- L97F (p.Leu97Phe), Ensembl rs2107802210
- L97P (p.Leu97Pro), Ensembl rs201127162, CADD 22.70, PolyPhen-2 0.94
- S99Y (p.Ser99Tyr), TOPMed rs1376226075, gnomAD rs1376226075, CADD 24.90
- G100A (p.Gly100Ala), TOPMed rs1239821559, gnomAD rs1239821559
- G100E (p.Gly100Glu), TOPMed rs1239821559, gnomAD rs1239821559, CADD 23.90, PolyPhen-2 0.45
- G100R (p.Gly100Arg), rs748986531, ClinGen CA2381583, ClinVar RCV003088850, ClinVar RCV005239657, CADD 22.80, PolyPhen-2 0.03, Uncertain significance, not specified; not provided
- G101D (p.Gly101Asp), TOPMed rs973642161, gnomAD rs973642161, CADD 10.40, PolyPhen-2 0.20, Uncertain significance
- G101S (p.Gly101Ser), gnomAD rs2045869734, CADD 8.54
- G101V (p.Gly101Val), rs973642161, ClinGen CA73994060, ClinVar RCV001280168, ClinVar RCV002499484, CADD 12.30, PolyPhen-2 0.26, Uncertain significance, Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullou
- D102A (p.Asp102Ala), Ensembl rs2045869192
- D102E (p.Asp102Glu), TOPMed rs1410950181
- I104T (p.Ile104Thr), TOPMed rs2045868882, CADD 25.20, PolyPhen-2 0.76, Uncertain significance, not provided
- R105C (p.Arg105Cys), rs778085630, ClinGen CA2381582, NCI-TCGA Cosmic COSV6039, ClinVar RCV001884124, CADD 27.00, PolyPhen-2 0.74, Uncertain significance, not provided
- R105H (p.Arg105His), rs370534336, ClinGen CA2381581, ClinVar RCV001144773, ClinVar RCV002557093, CADD 23.30, PolyPhen-2 0.01, Uncertain significance, Epidermolysis bullosa dystrophica; not provided
- A106S (p.Ala106Ser), rs752837490, ClinGen CA352748710, ClinVar RCV002616423, AlphaMissense 0.11, MetaLR 0.75, Uncertain significance, not provided
- A106T (p.Ala106Thr), rs752837490, ExAC rs752837490, TOPMed rs752837490, gnomAD rs752837490, AlphaMissense 0.11, MetaLR 0.75, Variant assessed as somatic; moderate impact.
- A106V (p.Ala106Val), rs767643638, ClinGen CA2381579, ClinVar RCV001280167, ClinVar RCV002537880, CADD 28.90, PolyPhen-2 1.00, Likely benign, not provided
- I107V (p.Ile107Val), Ensembl rs2045867553, CADD 15.90, PolyPhen-2 0.10
- R108C (p.Arg108Cys), rs755047832, ClinGen CA2381578, NCI-TCGA Cosmic COSV6039, ClinVar RCV003091452, CADD 29.60, PolyPhen-2 0.99, Uncertain significance, not provided
- R108H (p.Arg108His), rs752101927, NCI-TCGA Cosmic COSV6039, ExAC rs752101927, TOPMed rs752101927, CADD 27.50, PolyPhen-2 0.97, Uncertain significance, not specified
- S111G (p.Ser111Gly), ExAC rs766852847, gnomAD rs766852847, CADD 20.80, PolyPhen-2 0.04
- S111R (p.Ser111Arg), ExAC rs766852847, gnomAD rs766852847
- S111T (p.Ser111Thr), TOPMed rs2045866621, CADD 15.80, PolyPhen-2 0.01
- Y112* (p.Tyr112Ter), rs1256976418, ClinGen CA907759857, ClinVar RCV002277053, ClinVar RCV003728045, CADD 30.00, Pathogenic
- G114A (p.Gly114Ala), ExAC rs763402171, TOPMed rs763402171, gnomAD rs763402171, CADD 23.70, PolyPhen-2 0.75, Uncertain significance, Inborn genetic diseases
- G114E (p.Gly114Glu), ExAC rs763402171, TOPMed rs763402171, gnomAD rs763402171, CADD 24.20, PolyPhen-2 0.88, Uncertain significance
- G114R (p.Gly114Arg), TOPMed rs1177024674, gnomAD rs1177024674, CADD 22.00
- G114V (p.Gly114Val), rs763402171, ClinGen CA352748466, ClinVar RCV002651702, ExAC rs763402171, CADD 25.40, PolyPhen-2 0.94, Conflicting interpretations, not provided; Epidermolysis bullosa dystrophica
- N116K (p.Asn116Lys), rs773412676, ClinGen CA2381574, ClinVar RCV003881929, ExAC rs773412676, CADD 25.00, PolyPhen-2 1.00, Uncertain significance, not provided
- N116Q (p.Asn116Gln), rs1480404745, NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; high impact.
- T117A (p.Thr117Ala), gnomAD rs2045865410, CADD 24.60, PolyPhen-2 1.00
- T117Q (p.Thr117Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- R118C (p.Arg118Cys), TOPMed rs1201459281, gnomAD rs1201459281, CADD 32.00, PolyPhen-2 1.00
- R118H (p.Arg118His), rs966257558, ClinGen CA352748387, NCI-TCGA Cosmic COSV6039, ClinVar RCV001936362, CADD 28.70, PolyPhen-2 1.00, Uncertain significance, not provided
- R118P (p.Arg118Pro), rs966257558, ClinGen CA73994040, ClinVar RCV002619408, TOPMed rs966257558, CADD 28.70, PolyPhen-2 1.00, Uncertain significance, not provided
- T119I (p.Thr119Ile), TOPMed rs2045864717, Uncertain significance, Inborn genetic diseases
- T119P (p.Thr119Pro), UniProt VAR 035740, Uncertain significance, in a breast cancer sample
- G120R (p.Gly120Arg), ExAC rs763814269, CADD 27.10, PolyPhen-2 1.00
- A121T (p.Ala121Thr), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- A121V (p.Ala121Val), NCI-TCGA TCGA novel, CADD 28.00, PolyPhen-2 0.99, Variant assessed as somatic; moderate impact.
- A122S (p.Ala122Ser), rs1209617628, ClinGen CA352748267, ClinVar RCV002824550, AlphaMissense 0.90, MetaLR 0.99, Uncertain significance, not provided
- A122T (p.Ala122Thr), rs1209617628, ClinGen CA352748273, ClinVar RCV001998790, gnomAD rs1209617628, AlphaMissense 0.90, MetaLR 0.99, Uncertain significance, not provided
Public COL7A1 analysis runs
- COL7A1 analysis run — COL7A1 (4,078 variants) — completed 2026-08-21