Table 1.
AD-associated SNPs and InDels identified in 99 patients.
| Patient ID | Avsnp | REF | ALT | GeneName | Func | ACMG | ClinVar |
|---|---|---|---|---|---|---|---|
| 3 | rs727503057 | G | A | FBN1 | Exonic | Likely pathogenic | Pathogenic |
| 6 | rs267606902 | C | T | MYH11 | Exonic | Likely pathogenic | Pathogenic |
| 13 | rs532989312 | G | A | EFEMP2 | Exonic | Likely pathogenic | |
| 13 | T | C | FBN1 | Exonic | Pathogenic | ||
| 17 | rs779131465 | A | G | TGFBR2 | Splicing | Pathogenic | |
| 20 | C | T | FBN2 | Splicing | Pathogenic | ||
| 20 | rs104893809 | C | T | TGFBR2 | Exonic | Likely pathogenic | Pathogenic |
| 35 | A | G | FBN1 | Splicing | Likely pathogenic | ||
| 36 | G | A | TGFBR2 | Splicing | Pathogenic | ||
| 38 | T | C | COL3A1 | Exonic | Pathogenic | ||
| 45 | rs193922219 | C | T | FBN1 | Splicing | Pathogenic | Pathogenic |
| 89 | C | A | FBN1 | Exonic | Pathogenic | ||
| 98 | C | CAGAA | MYLK | Exonic | Likely pathogenic |
Patient ID: patient number; Avsnp: the dbSNP ID (https://www.ncbi.nlm.nih.gov/snp/); REF: the base in reference genome; ALT: the base in our study; GeneName: gene symbol; Func: the location of the variant; ACMG: the ACMG pathological rate; ClinVar: the ClinVar database pathological rate.