Table 1 Demographic features and mutations of the patients
ID | Gender | Age | Indication | AS genes | AS mutations | AS inheritance | Mutation type | ACMG classification of AS mutations | Novelty |
|---|---|---|---|---|---|---|---|---|---|
1 | F | 23 | Alport syndrome | COL4A4 | COL4A4, c.4684delT, p.Tyr1562Metfs*41 | Heterozygous | Frameshift | Pathogenic | Yes |
2 | M | 12 | Alport syndrome | COL4A5 | COL4A5, c.780 + 2 T > A | Hemyzygous | Splicing | Likely pathogenic | Yes |
3 | F | 36 | Alport syndrome | COL4A4 | COL4A4, c.4485C > G, p.Tyr1495Ter | Heterozygous | Nonsense | Likely pathogenic | Yes |
4 | F | 3 | Alport syndrome | COL4A3 | COL4A3, c.388-1G > T | Heterozygous | Splicing | pathogenic | No |
5 | F | 22 | Alport syndrome | COL4A5 | COL4A5, c.81 + 1G > T | Heterozygous | Splicing | Likely pathogenic | Yes |
6 | F | 48 | Alport syndrome | COL4A4 | COL4A4, c.3467del, p.Gln1156Argfs*12 | Heterozygous | Frameshift | Likely pathogenic | Yes |
7 | M | 29 | Alport syndrome | COL4A4 | COL4A4, c.4625G > A, p.Trp1542Ter | Homozygous | Nonsense | Likely pathogenic | Yes |
8 | M | 10 | Alport syndrome | COL4A3 | COL4A3, c.3664G > C, p.Gly1222Arg | Heterozygous | Missense | Likely pathogenic | Yes |
9 | F | 19 | Alport syndrome | COL4A4 | COL4A4, c.4294A > T, p.Lys1432Ter | Heterozygous | Nonsense | Likely pathogenic | Yes |
10 | F | 44 | Alport syndrome | COL4A3/COL4A5 | COL4A3, c.3536del, p.Pro1179Glnfs*42/COL4A5, c.3190_3192dup, p.Asp1064dup | Heterozygous/heterozygous | Frameshift | Likely pathogenic/likely pathogenic | Yes/yes |
11 | F | 6 | Alport syndrome | COL4A5 | COL4A5, c.2692A > G, p.Met898Val | Heterozygous | Missense | VUS | No |
12 | F | 35 | Alport syndrome/focal segmental glomerulosclerosis | COL4A4 | COL4A4, c.763G > A, p.Gly255Arg | Heterozygous | Missense | VUS | Yes |
13 | M | 36 | Alport syndrome/renal failure | COL4A4 | COL4A4, c.4805_4809del, p.Leu1602fs | Heterozygous | Frameshift | Likely pathogenic | Yes |
14 | F | 28 | Alport syndrome/short stature/Fanconi anemia | COL4A4 | COL4A4, c.193-2del | Heterozygous | Splicing | Likely pathogenic | Yes |
15 | F | 14 | Alport syndrome | COL4A3 | COL4A3, c.4347_4353delCCGACAC, p.Arg1450Valfs*77 | Homozygous | Frameshift | Pathogenic | No |
16 | F | 14 | Alport syndrome | COL4A4 | COL4A4, c.871G > A, p.Gly291Arg | Heterozygous | Missense | Likely pathogenic | Yes |
17 | M | 34 | Alport syndrome | COL4A3 | COL4A3, c.3454G > C, p.Gly1152Arg | Heterozygous | Missense | Pathogenic | No |
18 | M | 17 | Alport syndrome | COL4A4 | COL4A4, c.3512C > G, p.Ser1171Cys | Heterozygous | Missense | VUS | Yes |