|
| Mutation | Published Name | Amino acid change | Exon | Type |
|
| 17T/A | | V6D | exon 1 | AA substitution |
|
|
| Comment | |
| Source | Auerbach lab; January 27, 1997 |
|
| IVS2-55G/T | | | intron 2 | no change |
|
|
| Comment | |
| Source | Auerbach lab 4/23/97 |
|
| IVS6+74G/A | | | intron 6 | no change |
|
|
| Comment | |
| Source | Auerbach lab |
|
| IVS7-12A/G | | | intron 7 | no change |
|
|
| Comment | 81 alleles tested in NY: G-55.4%, A-44.6% |
| Source | Auerbach lab. October 1996 |
|
| 764-766del | | | exon 8 | deletion |
|
|
| Comment | arg to lys at position 255; deletion of thr at 256; remainder in frame.Found on a ÒnormalÓ chromosome in one FA family; one non-FA child carries it. |
| Source | Auerbach lab. November 1996 |
|
| IVS12-49G/C | | | intron 12 | |
|
|
| Comment | found in a known FAC family. |
| Source | Auerbach lab; December 1996 |
|
| IVS12-29A/G | | | intron 12 | |
|
|
| Comment | |
| Source | Auerbach lab; December 1996 |
|
| IVS13-20A/G | | | intron 13 | no change |
|
|
| Comment | |
| Source | Auerbach lab; October 1996 |
|
| 1143G/T | 1143 G/T | | exon 13 | no change |
|
|
| Comment | found in a known FAC family. |
| Source | Auerbach lab; December 1996. Also reported by C. Mathew |
|
| 1290G/A | | | exon 14 | no change |
|
|
| Comment | |
| Source | Auerbach lab; September 1996 |
|
| IVS17+16c/t | | | intron 17 | no change |
|
|
| Comment | |
| Source | Auerbach lab 6/13/97 |
|
| IVS17+29C/T | | | intron 17 | no change |
|
|
| Comment | |
| Source | Auerbach lab; November 1996 |
|
| IVS18+82T/C | | | intron 18 | no change |
|
|
| Comment | |
| Source | Auerbach lab; November 1996 |
|
| IVS19-28T/C | | | intron 19 | |
|
|
| Comment | |
| Source | Auerbach lab; December 1996 |
|
| IVS20+15T/C | | | intron 20 | |
|
|
| Comment | |
| Source | Auerbach lab; December 1996 |
|
| IVS20+30insGT | | | intron 20 | |
|
|
| Comment | found in a normal sib and both parents; Brazilian |
| Source | Auerbach lab; December 1996 |
|
| 1830A/G | | A610A | exon 21 | no change |
|
|
| Comment | |
| Source | Auerbach lab 8/7/97 |
|
| IVS22+42g/t | | | intron 22 | no change |
|
|
| Comment | |
| Source | Auerbach lab 6/13/97 |
|
| 1940g/a | | | exon 22 | no change |
|
|
| Comment | |
| Source | Auerbach lab 6/13/97 |
|
| IVS23+8T/C | | | intron 23 | no change |
|
|
| Comment | |
| Source | Auerbach lab; December 5, 1996 |
|
| IVS24+73A/G | | | intron 24 | no change |
|
|
| Comment | |
| Source | Auerbach lab; December 1996 |
|
| IVS25-75A/G | | | intron 25 | no change |
|
|
| Comment | The G allele was found in all individuals sequenced so far; the A allele (Nat. Genet. cDNA) is probably a rare variant. (Auerbach) |
| Source | Auerbach lab; November 1996 |
|
| IVS25+23C/T | | | intron 25 | no change |
|
|
| Comment | |
| Source | Auerbach lab 8/7/97 |
|
| IVS25+65C/G | | | intron 25 | no change |
|
|
| Comment | |
| Source | Auerbach lab 8/7/97 |
|
| IVS31-57A/C | | | intron 31 | no change |
|
|
| Comment | |
| Source | Auerbach lab 8/7/97 |
|
| IVS32-42G/A | | | intron 32 | no change |
|
|
| Comment | 30 alleles tested in NY: G- 56.7%, A-43.3% |
| Source | Auerbach lab; December 5, 1996; also reported by C. Mathew; February 14, 1997 |
|
| 3183C/T | | | exon 32 | no change |
|
|
| Comment | |
| Source | Auerbach lab; December 1996 |
|
| IVS33+18A/G | | | intron 33 | |
|
|
| Comment | |
| Source | Auerbach lab; December 1996 |
|
| IVS33+29C/T | | | intron 33 | no change |
|
|
| Comment | |
| Source | Auerbach lab 8/7/97 |
|
| IVS34+45G/A | | | intron 34 | no change |
|
|
| Comment | |
| Source | Auerbach lab 8/7/97 |
|
| IVS35+62T/C | | | intron 35 | no change |
|
|
| Comment | |
| Source | Auerbach lab; November 1996 |
|
| IVS35+78A/G | | | intron 35 | |
|
|
| Comment | To this point has always been found with IVS35+62T/C. |
| Source | Auerbach lab; November 1996 |
|
| 3654A/G | | | exon 37 | no change |
|
|
| Comment | |
| Source | Auerbach lab; December 1997 |
|
| IVS39-16C/T | | | intron 39 | |
|
|
| Comment | C-62.5% T-37.5% out of 72 allelles. |
| Source | Auerbach lab; December 1996 |
|
| IVS41+42C/T | | | intron 41 | no change |
|
|
| Comment | Possibly a mutation; found in one family, and segregates with the disease. |
| Source | Auerbach lab; November 1996 |
|
| IVS42+29T/C | | | intron 42 | no change |
|
|
| Comment | 89 alleles tested in NY: C-54%, T-46% |
| Source | Auerbach lab; November 1996 |
|
