|
| Mutation | Published Name | Amino acid change | Exon | Type |
|
| 1974G/A | 1974G->A | | exon | no change |
|
|
| Comment | |
| Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
|
| 332C/T | S26F | S/F26 | exon 1 | AA substitution |
|
|
| Comment | |
| Source | Verlander et al. Am J Hum Gen 54:595-601 (1994) |
|
| 663A/G | 663A->G | | exon 4 | no change |
|
|
| Comment | |
| Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
|
| 671G/A | G139E | G/E139 | exon 4 | AA substitution |
|
|
| Comment | |
| Source | Whitney et al. Nature Gen 4:202-205 (1993)Verlander et al. Am J Hum Gen 54:595-601 (1994) |
|
| IVS6+30C/T | IVS6+30C->T | | intron 6 | no change |
|
|
| Comment | |
| Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
|
| 823C/T | L190F | L/F190 | exon 6 | AA substitution |
|
|
| Comment | |
| Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
|
| 839A/T | D195V | D/V195 | exon 6 | AA substitution |
|
|
| Comment | |
| Source | Verlander et al. Am J Hum Gen 54:595-601 (1994) |
|
| 1189A/G | I312V | I/V312 | exon 9 | AA substitution |
|
|
| Comment | |
| Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
|
| 1600G/A | V449M | V/M449 | exon 13 | AA substitution |
|
|
| Comment | |
| Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
|
| 1649A/G | Q465R | Q/R465 | exon 13 | AA substitution |
|
|
| Comment | |
| Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
|
