Author numbered from K12 DNA (Genbank accession number AF137286). Numbering from K12 mRNA (Genbank accession number D78367) would be 1309T→G. | |||
Keratin 3 | |||
Exon 7 | 1525G→A | E509K | Irvine et al 1 |
Keratin 12 | |||
Exon 1 | 410T→C | M129T | Corden et al 19 |
Exon 1 | 413A→C | Q130P | Corden et al 18 |
Exon 1 | 423T→G | N133K | Irvine et al 20 |
Exon 1 | 427A→G | R135G | Nishida et al 16 |
Exon 1 | 428G→T | R135I | Nishida et al 16 |
Exon 1 | 428G→C | R135T | Irvine et al,1 Corden et al 19 |
Exon 1 | 429A→C | R135S | Current report |
Exon 1 | 433G→C | A137P | Takahashi et al 21 |
Exon 1 | 443T→G | L140R | Nishida et al 16 |
Exon 1 | 451G→C | V143L | Irvine et al 1 |
Exon 6 | 1222ins27 | 400ins9 | Current report |
Exon 6 | 1300A→G | I426V | Coleman et al 17 |
Exon 6 | 4064†T→G | Y429D | Nishida et al 16 |