Details of COL17A1 variants reported in this study
| Family ID | ACMG criteria | Variants | CADD score | gnomAD frequency | ||
| Genomic nomenclature | Transcript nomenclature | Predicted protein nomenclature | ||||
| F1 | P (PVS1, PM2, PP5) | g.105833981del | c.340del | p.(Ser114Valfs*60) | 32.0 | 0.00001591 |
| F2 | P (PP1, PP4, PVS1, PM2, PP5) | g.105831793G>A | c.460C>T | p.(Arg154*) | 36.0 | 0.000003977 |
| F3 | P (PP1, PP4, PVS1, PM2) | g.105830245_105830254del | c.541_550del | p.(Asn181Profs*13) | 32.0 | Absent |
| F4 | LP (PP1, PP3, PP4, PM2) | g.105812867C>T | c.1861G>A | p.(Gly621Ser) | 23.9 | Absent |
| F5 | LP (PP1, PP3, PP4, PM2) | g.105811266C>T | c.2011G>A | p.(Gly671Ser) | 26.3 | 0.0001135 |
| F6 | LP (PP3, PP4, PM2) | g.105811247C>T | c.2030G>A | p.(Gly677Asp) | 26.1 | Absent |
| F7 | LP (PP1, PP4, PVS1, PM2) | g.105803340C>T | c.2435–1G>A | p.? | 34.0 | Absent |
| F8 | P (PP4, PVS1, PM2) | g.105798865del | c.2912del | p.(Pro971Glnfs*95) | 33.0 | Absent |
| F9 | LP (PP1, PP4, PVS1, PM2) | g.105798827A>G | c.2947+2T>C | p.? | 30.0 | Absent |
| F10 | P (PP1, PP4, PVS1, PM2, PP5) | g.105796802C>T | c.3277+1G>A | p.? | 27.7 | 0.00006312 |
| F11 | P (PP1, PP4, PVS1, PM2) | g.105796371G>T | c.3297C>A | p.(Tyr1099*) | 36.0 | Absent |
| F12 | VUS (PP4, PM2) | g.105796271G>A | c.3397C>T | p.(Arg1133Cys) | 33.0 | Absent |
| F13 | P (PP4, PVS1, PM2) | g.105795287del | c.3456del | p.(Pro1154Leufs*97) | 20.6 | 0.000008021 |
| F14 | P (PP1, PP4, PVS1, PM2) | g.105795287del | c.3456del | p.(Pro1154Leufs*97) | 20.6 | 0.000008021 |
| F15 | P (PP1, PP4, PVS1, PM2) | g.105795277_105795278del | c.3462_3463del | p.(Gly1155Leufs*7) | 33.0 | Absent |
| F16 | LP (PP1, PP4, PS4, PM2) | g.105795045C>G | c.3595G>C | p.(Glu1199Gln) | 25.1 | Absent |
| F17 | LP (PP1, PP4, PS4, PM2) | g.105795045C>G | c.3595G>C | p.(Glu1199Gln) | 25.1 | Absent |
| F18 | VUS (PP4, PM2) | g.105795035G>A | c.3605C>T | p.(Ser1202Leu) | 27.0 | 0.00002800 |
| F19 | P (PP1, PP4, PVS1, PM2) | g.105793715_105793716del | c.4147_4148del | p.(Ser1383Hisfs*71) | 34.0 | Absent |
ACMG scoring criteria: PP1: segregation data pathogenic supporting; PP4: phenotype pathogenic supporting; PS4: case control studies pathogenic strong; PVS1: effect on protein pathogenic very strong; PM2: population data pathogenic moderate; PP5: reputable source data pathogenic supporting.
Nomenclature is reported according to COL17A1 transcript NM_000494.4 and chromosome 10 of human reference genome build hg19.
CADD V.1.3, combined annotation dependent depletion; gnomAD V.2.1.1, genome aggregation database; LP, likely pathogenic; P, pathogenic; VUS, variant of unknown significance.