XPC (Q01831) variants and mutations
XPC (also known as Q01831) is a human protein-coding gene encoding a DNA repair protein complementing XP-C cells protein. It detects helix-distorting lesions throughout the genome and initiates global-genome nucleotide-excision repair. Biallelic loss-of-function variants cause xeroderma pigmentosum group C with severe ultraviolet sensitivity and greatly increased skin-cancer risk. This analysis covers 1,468 XPC variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes Xeroderma pigmentosum complementation group C, xeroderma pigmentosum group C, and xeroderma pigmentosum. Example XPC variants include M1K, M1L, and M1R.
Variant analysis overview
- Gene: XPC
- Protein: Q01831
- UniProt accession: Q01831
- Organism: Homo sapiens
- Variants analyzed: 1468
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,239 unspecified-consequence records; 70 synonymous variants; 115 missense variants; 11 stop-gained variants; 19 frameshift variants; 1 in-frame insertions; 9 in-frame deletions; 1 splice-region variants; 3 substitution
- Prediction scores: 1,053 variants have prediction scores (72% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Xeroderma pigmentosum complementation group C, xeroderma pigmentosum group C, xeroderma pigmentosum, Abnormality of the skeletal system, lung carcinoma, prostate carcinoma, Meningothelial Meningioma, Atypical Meningioma, Angiomatous Meningioma, hemangioblastoma, Transitional Meningioma, gastrointestinal stromal tumor.
Protein structure and variant hotspots
- Protein features: 14 post-translational modification sites.
- PTM context: 22 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable XPC variants
Examples include M1K, M1L, M1R, M1T, M1V, A2D, A2G, A2V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1K (p.Met1Lys), rs760324503, ClinGen CA351543952, ClinVar RCV002819874, MetaLR 0.16, MetaSVM -0.80, Likely pathogenic, not provided
- M1L (p.Met1Leu), rs763678756, ClinGen CA351543954, ClinVar RCV000671101, ClinVar RCV003669168, MetaLR 0.15, MetaSVM -0.89, Pathogenic, not provided
- M1R (p.Met1Arg), rs760324503, ClinGen CA2267847, ClinVar RCV001377067, ClinVar RCV004800999, MetaLR 0.16, MetaSVM -0.80, Pathogenic, Xeroderma pigmentosum; not provided
- M1T (p.Met1Thr), rs760324503, ClinGen CA69769174, ClinVar RCV001242944, MetaLR 0.16, MetaSVM -0.80, Likely pathogenic, not provided
- M1V (p.Met1Val), rs763678756, ClinGen CA2267848, ClinVar RCV000666438, ClinVar RCV001861752, MetaLR 0.15, MetaSVM -0.89, Conflicting interpretations, Xeroderma pigmentosum, group C; not provided; Xeroderma pigmentosum
- A2D (p.Ala2Asp), TOPMed rs1047160068, gnomAD rs1047160068, REVEL 0.29, CADD 15.10
- A2G (p.Ala2Gly), TOPMed rs1047160068, gnomAD rs1047160068, REVEL 0.16, CADD 8.47
- A2V (p.Ala2Val), TOPMed rs1047160068, gnomAD rs1047160068, REVEL 0.14, CADD 9.41
- R3G (p.Arg3Gly), ExAC rs774690269, TOPMed rs774690269, gnomAD rs774690269, REVEL 0.15, CADD 23.50, Uncertain significance
- R3P (p.Arg3Pro), ESP rs369735922, ExAC rs369735922, TOPMed rs369735922, gnomAD rs369735922, REVEL 0.11, CADD 15.50, Uncertain significance
- R3Q (p.Arg3Gln), rs369735922, ClinGen CA2267845, ClinVar RCV002258660, ESP rs369735922, REVEL 0.14, CADD 19.90, Uncertain significance, Xeroderma pigmentosum
- R3W (p.Arg3Trp), ExAC rs774690269, TOPMed rs774690269, gnomAD rs774690269, REVEL 0.22, CADD 24.20, Uncertain significance, Xeroderma pigmentosum, group C
- K4E (p.Lys4Glu), rs2125053616, ClinGen CA351543933, ClinVar RCV002258649, Ensembl rs2125053616, REVEL 0.04, CADD 21.80, Uncertain significance, Xeroderma pigmentosum
- R5C (p.Arg5Cys), TOPMed rs1011569158, gnomAD rs1011569158, REVEL 0.14, CADD 22.50, Uncertain significance
- R5G (p.Arg5Gly), rs1011569158, ClinGen CA351543926, ClinVar RCV003730608, TOPMed rs1011569158, REVEL 0.08, CADD 17.20, Uncertain significance, not provided
- R5S (p.Arg5Ser), TOPMed rs1011569158, gnomAD rs1011569158, Uncertain significance
- A6G (p.Ala6Gly), rs770358796, ClinGen CA2267841, ClinVar RCV001150854, ClinVar RCV003363121, REVEL 0.10, CADD 14.90, Uncertain significance, Inborn genetic diseases; Xeroderma pigmentosum, group C
- A6V (p.Ala6Val), NCI-TCGA Cosmic COSV5320, Variant assessed as somatic; moderate impact.
- A7D (p.Ala7Asp), ExAC rs748121825, TOPMed rs748121825, gnomAD rs748121825
- A7T (p.Ala7Thr), gnomAD rs1171330417
- A7V (p.Ala7Val), ExAC rs748121825, TOPMed rs748121825, gnomAD rs748121825, REVEL 0.08, CADD 15.80
- G9R (p.Gly9Arg), NCI-TCGA TCGA novel, gnomAD rs1696940567, REVEL 0.08, CADD 0.37, Likely benign, Inborn genetic diseases
- G9V (p.Gly9Val), rs376802950, ClinGen CA2267839, ClinVar RCV001508140, ClinVar RCV001788489, REVEL 0.07, CADD 8.48, Uncertain significance, Xeroderma pigmentosum, group C; not provided
- E10G (p.Glu10Gly), Ensembl rs973435631, REVEL 0.09, CADD 1.12
- E10K (p.Glu10Lys), ExAC rs747294422, TOPMed rs747294422, gnomAD rs747294422, REVEL 0.07, CADD 2.55
- E10Q (p.Glu10Gln), ExAC rs747294422, TOPMed rs747294422, gnomAD rs747294422, REVEL 0.04, CADD 1.20
- P11S (p.Pro11Ser), ExAC rs779973972, TOPMed rs779973972, gnomAD rs779973972, REVEL 0.06, CADD 6.80
- R12G (p.Arg12Gly), ExAC rs758310257, gnomAD rs758310257, REVEL 0.06, CADD 22.10
- R12P (p.Arg12Pro), 1000Genomes rs539858805, ExAC rs539858805, TOPMed rs539858805, gnomAD rs539858805, REVEL 0.16, CADD 18.80, Uncertain significance, Inborn genetic diseases
- R12W (p.Arg12Trp), ExAC rs758310257, gnomAD rs758310257, REVEL 0.11, CADD 23.70
- G13E (p.Gly13Glu), ExAC rs757229651, gnomAD rs757229651, REVEL 0.13, CADD 9.03, Uncertain significance, Inborn genetic diseases
- G13R (p.Gly13Arg), rs201273381, 1000Genomes rs201273381, ESP rs201273381, ExAC rs201273381, REVEL 0.05, CADD 11.40, Uncertain significance, Xeroderma pigmentosum, group C; not provided; Xeroderma pigmentosum
- G13V (p.Gly13Val), ExAC rs757229651, gnomAD rs757229651, REVEL 0.16, CADD 16.90
- E15* (p.Glu15Ter), rs1340359519, ClinGen CA351543826, ClinVar RCV003693779, CADD 32.00, Pathogenic
- E15K (p.Glu15Lys), TOPMed rs1340359519, Pathogenic
- L16M (p.Leu16Met), 1000Genomes rs1870134, ESP rs1870134, ExAC rs1870134, TOPMed rs1870134, REVEL 0.07, CADD 0.81, Benign
- L16P (p.Leu16Pro), gnomAD rs1348131138
- L16V (p.Leu16Val), rs1870134, ClinGen CA162853, ClinVar RCV000122323, ClinVar RCV000333184, REVEL 0.05, CADD 0.30, Benign, Xeroderma pigmentosum, group C; not specified; not provided
- R17C (p.Arg17Cys), ExAC rs752392227, gnomAD rs752392227, REVEL 0.03, CADD 12.70, Uncertain significance, not provided
- R17L (p.Arg17Leu), Ensembl rs1696937922, REVEL 0.03, CADD 15.70
- S18N (p.Ser18Asn), Ensembl rs1457687972, REVEL 0.01, CADD 8.98
- S18R (p.Ser18Arg), rs587778757, ClinGen CA162850, ClinVar RCV000122322, ClinVar RCV000671614, REVEL 0.06, CADD 9.80, Uncertain significance, Xeroderma pigmentosum, group C
- Q19* (p.Gln19Ter), rs1553608637, ClinGen CA351543783, ClinVar RCV000666399, ClinVar RCV001038115, CADD 34.00, Pathogenic
- Q19H (p.Gln19His), TOPMed rs1340173403, gnomAD rs1340173403, REVEL 0.08, CADD 14.40
- K20I (p.Lys20Ile), NCI-TCGA Cosmic COSV5320, Variant assessed as somatic; moderate impact.
- S21C (p.Ser21Cys), NCI-TCGA Cosmic COSV9954, Variant assessed as somatic; moderate impact.
- A23S (p.Ala23Ser), TOPMed rs538602141
- A23T (p.Ala23Thr), TOPMed rs538602141, REVEL 0.04, CADD 20.50
- K24M (p.Lys24Met), gnomAD rs1696936510, REVEL 0.07, CADD 22.10
- R28G (p.Arg28Gly), ExAC rs746994711, TOPMed rs746994711, gnomAD rs746994711, REVEL 0.05, CADD 18.90, Likely benign
- R28Q (p.Arg28Gln), gnomAD rs1390055937, REVEL 0.14, CADD 18.60
- R28W (p.Arg28Trp), ExAC rs746994711, TOPMed rs746994711, gnomAD rs746994711, REVEL 0.05, CADD 23.00, Likely benign
- R29C (p.Arg29Cys), rs765599107, ClinGen CA351543657, ClinVar RCV003238414, ExAC rs765599107, REVEL 0.07, CADD 22.10, Uncertain significance, not provided
- R29L (p.Arg29Leu), TOPMed rs1367666247, gnomAD rs1367666247
- R29P (p.Arg29Pro), TOPMed rs1367666247, gnomAD rs1367666247
- R29S (p.Arg29Ser), ExAC rs765599107, gnomAD rs765599107, REVEL 0.04, CADD 17.80, Uncertain significance
- E31* (p.Glu31Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E31K (p.Glu31Lys), rs368820141, ClinGen CA2267824, ClinVar RCV002258661, ESP rs368820141, REVEL 0.08, CADD 15.30, Uncertain significance, Xeroderma pigmentosum
- E32* (p.Glu32Ter), rs768907247, ClinGen CA351543612, ClinVar RCV003578828, AlphaMissense 0.10, MetaLR 0.13, Pathogenic
- E32A (p.Glu32Ala), Ensembl rs1696934586
- E32K (p.Glu32Lys), ExAC rs768907247, TOPMed rs768907247, gnomAD rs768907247, REVEL 0.07, AlphaMissense 0.10
- E32Q (p.Glu32Gln), ExAC rs768907247, TOPMed rs768907247, gnomAD rs768907247
- E33K (p.Glu33Lys), gnomAD rs1236624814, REVEL 0.10, CADD 22.30
- E34* (p.Glu34Ter), rs2470320911, ClinGen CA351543586, ClinVar RCV002791156, Pathogenic
- D35E (p.Asp35Glu), rs202128104, ClinGen CA2267795, ClinVar RCV001144644, ClinVar RCV001445409, REVEL 0.04, CADD 21.10, Likely benign, not provided; Xeroderma pigmentosum, group C
- D35H (p.Asp35His), ExAC rs775816530, TOPMed rs775816530, gnomAD rs775816530
- D35N (p.Asp35Asn), ExAC rs775816530, TOPMed rs775816530, gnomAD rs775816530, REVEL 0.07, CADD 32.00
- A36G (p.Ala36Gly), TOPMed rs1331120157, gnomAD rs1331120157
- A36P (p.Ala36Pro), Ensembl rs1696679027
- A36T (p.Ala36Thr), Ensembl rs1696679027, REVEL 0.08, CADD 19.90
- A36V (p.Ala36Val), TOPMed rs1331120157, gnomAD rs1331120157, REVEL 0.12, CADD 5.75
- F37C (p.Phe37Cys), ExAC rs747594023, TOPMed rs747594023, gnomAD rs747594023, REVEL 0.13, CADD 19.30
- F37V (p.Phe37Val), Ensembl rs943699781, REVEL 0.08, CADD 17.40
- E38K (p.Glu38Lys), ExAC rs780824037, gnomAD rs780824037, REVEL 0.07, CADD 23.00
- K41R (p.Lys41Arg), Ensembl rs1696678165
- P42H (p.Pro42His), ESP rs373913397, ExAC rs373913397, gnomAD rs373913397, REVEL 0.17, CADD 23.70
- P42S (p.Pro42Ser), TOPMed rs1427135900, gnomAD rs1427135900, REVEL 0.13, CADD 22.80
- P43A (p.Pro43Ala), TOPMed rs1447136724, gnomAD rs1447136724, REVEL 0.07, CADD 8.70
- K44E (p.Lys44Glu), gnomAD rs1477400478, REVEL 0.03, CADD 19.60
- K44R (p.Lys44Arg), TOPMed rs1696677092, gnomAD rs1696677092, REVEL 0.02, CADD 17.50
- K45R (p.Lys45Arg), rs779117189, ClinGen CA2267790, ClinVar RCV000393494, ExAC rs779117189, REVEL 0.03, CADD 15.20, Uncertain significance, Xeroderma pigmentosum, group C
- S46N (p.Ser46Asn), gnomAD rs1206773443, REVEL 0.04, CADD 11.20
- L47F (p.Leu47Phe), ExAC rs757602118, TOPMed rs757602118, gnomAD rs757602118, REVEL 0.10, CADD 5.29
- L47V (p.Leu47Val), ExAC rs757602118, TOPMed rs757602118, gnomAD rs757602118, REVEL 0.08, CADD 4.59
- L48F (p.Leu48Phe), rs2229089, ClinGen CA162883, ClinVar RCV000122333, ClinVar RCV000348650, REVEL 0.09, CADD 3.38, Benign/Likely benign, not specified; not provided; Xeroderma pigmentosum group A
- L48I (p.Leu48Ile), 1000Genomes rs2229089, ESP rs2229089, ExAC rs2229089, TOPMed rs2229089, Benign
- S49C (p.Ser49Cys), ExAC rs761266459, gnomAD rs761266459, REVEL 0.12, CADD 22.70
- K50E (p.Lys50Glu), TOPMed rs1696675526, REVEL 0.10, CADD 12.90
- K50R (p.Lys50Arg), ESP rs374372119, ExAC rs374372119, TOPMed rs374372119, gnomAD rs374372119, REVEL 0.18, CADD 2.05
- V51I (p.Val51Ile), Ensembl rs2125046147
- S52* (p.Ser52Ter), rs1696675107, ClinVar RCV004573888, AlphaMissense 0.08, MetaLR 0.29, Likely pathogenic
- S52L (p.Ser52Leu), TOPMed rs1696675107, gnomAD rs1696675107, REVEL 0.12, AlphaMissense 0.08
- S52P (p.Ser52Pro), Ensembl rs1696675244, REVEL 0.14, CADD 7.95
- Q53R (p.Gln53Arg), gnomAD rs1365580135
- G54R (p.Gly54Arg), rs1696674854, ClinGen CA351543288, ClinVar RCV002258650, TOPMed rs1696674854, REVEL 0.07, CADD 7.22, Uncertain significance, Xeroderma pigmentosum
- K55E (p.Lys55Glu), Ensembl rs1574977409
- R56G (p.Arg56Gly), gnomAD rs1290300546, REVEL 0.27, CADD 18.70
- R56K (p.Arg56Lys), TOPMed rs1410611847, gnomAD rs1410611847, REVEL 0.10, CADD 13.30
- R56T (p.Arg56Thr), TOPMed rs1410611847, gnomAD rs1410611847, REVEL 0.26, CADD 22.40
- K57R (p.Lys57Arg), Ensembl rs1696674250
- R58G (p.Arg58Gly), gnomAD rs1370217743, REVEL 0.27, CADD 23.00
- R58K (p.Arg58Lys), ExAC rs759651595, gnomAD rs759651595, REVEL 0.07, CADD 10.80, Uncertain significance, Inborn genetic diseases
- G59D (p.Gly59Asp), ExAC rs774670281, gnomAD rs774670281, REVEL 0.05, CADD 5.67
- G59R (p.Gly59Arg), Ensembl rs2125046091
- G59V (p.Gly59Val), ExAC rs774670281, gnomAD rs774670281, REVEL 0.06, CADD 12.40
- C60F (p.Cys60Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C60Y (p.Cys60Tyr), Ensembl rs1559384551, REVEL 0.17, CADD 5.82
- S61G (p.Ser61Gly), Ensembl rs1126482
- H62Y (p.His62Tyr), Ensembl rs932200741
- P63L (p.Pro63Leu), ExAC rs762684754, TOPMed rs762684754, gnomAD rs762684754, REVEL 0.18, CADD 19.40
- P63R (p.Pro63Arg), ExAC rs762684754, TOPMed rs762684754, gnomAD rs762684754, REVEL 0.20, CADD 22.30
- G64A (p.Gly64Ala), rs183478541, ClinGen CA2267779, ClinVar RCV001356881, 1000Genomes rs183478541, REVEL 0.12, CADD 4.27, Uncertain significance, not provided
- G64E (p.Gly64Glu), rs183478541, ClinGen CA2267780, ClinVar RCV004485586, 1000Genomes rs183478541, REVEL 0.18, CADD 16.30, Uncertain significance, Inborn genetic diseases
- G65R (p.Gly65Arg), gnomAD rs1413843191, REVEL 0.06, CADD 6.45
- S66L (p.Ser66Leu), Ensembl rs1696672479, REVEL 0.09, CADD 19.50
- A67S (p.Ala67Ser), NCI-TCGA Cosmic COSV5320, Variant assessed as somatic; moderate impact.
- A67T (p.Ala67Thr), TOPMed rs1384638456
- D68G (p.Asp68Gly), 1000Genomes rs56012223, ExAC rs56012223, TOPMed rs56012223, gnomAD rs56012223, Likely benign
- D68V (p.Asp68Val), rs56012223, ClinGen CA2267778, ClinVar RCV000940509, ClinVar RCV001292834, REVEL 0.06, CADD 9.54, Conflicting interpretations, Xeroderma pigmentosum, group C; not provided
- G69R (p.Gly69Arg), rs533660155, ClinGen CA2267777, ClinVar RCV002258652, ClinVar RCV002488645, REVEL 0.27, CADD 17.50, Uncertain significance, Xeroderma pigmentosum, group C; Xeroderma pigmentosum
- P70S (p.Pro70Ser), NCI-TCGA TCGA novel, TOPMed rs1696671718, Variant assessed as somatic; moderate impact.
- K72E (p.Lys72Glu), TOPMed rs1250574795, gnomAD rs1250574795, REVEL 0.18, CADD 18.60
- K73N (p.Lys73Asn), rs2470304057, ClinGen CA2582342839, ClinVar RCV003330361, Pathogenic
- K74* (p.Lys74Ter), rs2125046000, ClinGen CA351543161, ClinVar RCV002037853, Ensembl rs2125046000, Pathogenic
- K77M (p.Lys77Met), 1000Genomes rs1696670917, TOPMed rs1696670917, REVEL 0.15, CADD 22.20
- V78L (p.Val78Leu), ExAC rs746533585, gnomAD rs746533585, REVEL 0.11, CADD 11.20
- T79S (p.Thr79Ser), Ensembl rs1696670680, REVEL 0.13, CADD 18.70
- V80I (p.Val80Ile), Ensembl rs1559384494, REVEL 0.05, CADD 13.20
- S82Y (p.Ser82Tyr), Ensembl rs963478677
- E83D (p.Glu83Asp), ExAC rs758138803, gnomAD rs758138803, REVEL 0.04, CADD 17.00
- E83G (p.Glu83Gly), Ensembl rs1696670173, REVEL 0.04, CADD 15.60
- E83K (p.Glu83Lys), 1000Genomes rs571061535, ExAC rs571061535, gnomAD rs571061535, REVEL 0.08, CADD 16.40
- N84H (p.Asn84His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L85F (p.Leu85Phe), Ensembl rs535242729
- K86E (p.Lys86Glu), ExAC rs778347566, gnomAD rs778347566, REVEL 0.09, CADD 2.07
- K86M (p.Lys86Met), ExAC rs3731063, TOPMed rs3731063, gnomAD rs3731063, REVEL 0.21, CADD 19.90
- K86N (p.Lys86Asn), gnomAD rs1349999355, REVEL 0.11, CADD 13.70
- K86Q (p.Lys86Gln), ExAC rs778347566, gnomAD rs778347566, REVEL 0.05, CADD 1.63
- K86R (p.Lys86Arg), rs3731063, UniProt VAR 018896, ExAC rs3731063, TOPMed rs3731063, REVEL 0.07, CADD 10.30
- V87F (p.Val87Phe), ESP rs374572265, ExAC rs374572265, TOPMed rs374572265, gnomAD rs374572265, REVEL 0.18, CADD 13.20, Uncertain significance, Inborn genetic diseases
- V87I (p.Val87Ile), ESP rs374572265, ExAC rs374572265, TOPMed rs374572265, gnomAD rs374572265, REVEL 0.03, CADD 4.52, Uncertain significance
- V87L (p.Val87Leu), rs374572265, ClinGen CA2267769, ClinVar RCV002258655, ClinVar RCV003138132, REVEL 0.04, CADD 5.94, Uncertain significance, not provided; Xeroderma pigmentosum, group C; Inborn genetic diseases
- I88T (p.Ile88Thr), TOPMed rs1696668783
- I88V (p.Ile88Val), rs200197232, ClinGen CA2267768, ClinVar RCV000296019, 1000Genomes rs200197232, REVEL 0.07, CADD 0.01, Uncertain significance, Xeroderma pigmentosum, group C
- K89M (p.Lys89Met), Ensembl rs1696668638
- D90E (p.Asp90Glu), ExAC rs751610089, REVEL 0.09, CADD 1.36
- D90G (p.Asp90Gly), Ensembl rs1574977233, REVEL 0.14, CADD 24.50
- D90N (p.Asp90Asn), ExAC rs759616600, gnomAD rs759616600, REVEL 0.25, CADD 23.20
- L93F (p.Leu93Phe), Ensembl rs2125045889
- S94G (p.Ser94Gly), ExAC rs766563263, gnomAD rs766563263, REVEL 0.10, CADD 15.00
- S94I (p.Ser94Ile), ExAC rs763230547, gnomAD rs763230547, REVEL 0.11, CADD 23.40
- S94N (p.Ser94Asn), ExAC rs763230547, gnomAD rs763230547, REVEL 0.05, CADD 17.60
- S94R (p.Ser94Arg), TOPMed rs1403858767, gnomAD rs1403858767, REVEL 0.16, CADD 14.90, Likely benign
- D95G (p.Asp95Gly), gnomAD rs1457289989, REVEL 0.20, CADD 23.30
- D95H (p.Asp95His), ExAC rs772981828, TOPMed rs772981828, gnomAD rs772981828, REVEL 0.17, CADD 22.70
- D95N (p.Asp95Asn), ExAC rs772981828, TOPMed rs772981828, gnomAD rs772981828, REVEL 0.20, CADD 23.50
- G96E (p.Gly96Glu), 1000Genomes rs369470201, ESP rs369470201, ExAC rs369470201, TOPMed rs369470201, REVEL 0.15, CADD 10.40
- G96R (p.Gly96Arg), TOPMed rs1312502115
- D97N (p.Asp97Asn), TOPMed rs1696666880, REVEL 0.02, CADD 17.70
- D97V (p.Asp97Val), ExAC rs761712247, gnomAD rs761712247
- D98V (p.Asp98Val), TOPMed rs1696666400
- D98Y (p.Asp98Tyr), TOPMed rs1696666507
- R100G (p.Arg100Gly), TOPMed rs1425193237, gnomAD rs1425193237, REVEL 0.20, CADD 24.20
- R100W (p.Arg100Trp), TOPMed rs1425193237, gnomAD rs1425193237
- F102L (p.Phe102Leu), ExAC rs758601393, gnomAD rs758601393
- F102Y (p.Phe102Tyr), gnomAD rs1197704562, REVEL 0.09, CADD 5.32, Uncertain significance, Inborn genetic diseases
- P103Q (p.Pro103Gln), NCI-TCGA Cosmic COSV5320, Variant assessed as somatic; moderate impact.
- P103T (p.Pro103Thr), ExAC rs750688268, TOPMed rs750688268, gnomAD rs750688268
- S104G (p.Ser104Gly), TOPMed rs1013843130, gnomAD rs1013843130, REVEL 0.05, CADD 6.54
- S104R (p.Ser104Arg), TOPMed rs1013843130, gnomAD rs1013843130
- D105H (p.Asp105His), NCI-TCGA Cosmic COSV5320, Variant assessed as somatic; moderate impact.
- L106F (p.Leu106Phe), NCI-TCGA Cosmic COSV5320, Variant assessed as somatic; moderate impact.
- L106I (p.Leu106Ile), NCI-TCGA Cosmic COSV5320, REVEL 0.05, CADD 3.21, Variant assessed as somatic; moderate impact.
- L106V (p.Leu106Val), gnomAD rs1464850195, REVEL 0.06, CADD 1.65
- K107N (p.Lys107Asn), NCI-TCGA Cosmic COSV5320, Variant assessed as somatic; moderate impact.
- K107R (p.Lys107Arg), Ensembl rs1696569142, Uncertain significance, Inborn genetic diseases
- K108E (p.Lys108Glu), ESP rs369079467, ExAC rs369079467, gnomAD rs369079467, REVEL 0.28, CADD 23.20
- K108N (p.Lys108Asn), TOPMed rs535425175, gnomAD rs535425175, REVEL 0.19, CADD 23.40
- A109T (p.Ala109Thr), TOPMed rs1196344113, gnomAD rs1196344113, REVEL 0.03, CADD 1.44
- H110R (p.His110Arg), Ensembl rs1696568312
Public XPC analysis runs
- XPC analysis run — XPC (1,468 variants) — completed 2026-08-18