Mutations leading to Ehlers-Danlos type VII (arthrochalasia type)
| Gene | Mutation | Position | Reference |
|---|---|---|---|
| COL1A1 | AG→AA | 3′ splice site, intron 5 | 12, this paper |
| COL1A1 | G−1→A | 5′ splice site, intron 6 | 14, 15 |
| COL1A1 | Genomic deletion | Exon 5 to intron 6 | This paper |
| COL1A2 | AG→AC | 3′ splice site, intron 5 | 13 |
| COL1A2 | AG→GG | 3′ splice site, intron 5 | 12 |
| COL1A2 | G−1→A | 5′ splice site, intron 6 | 12, 16 |
| COL1A2 | G+1→A | 5′ splice site, intron 6 | 10, 17–21 |
| COL1A2 | G+1→T | 5′ splice site, intron 6 | 12, this paper |
| COL1A2 | T+2→C | 5′ splice site, intron 6 | 21, 22, 23 |
| COL1A2 | Genomic deletion | Encompassing exon 6 | 12 |