Intronic FANCA sequence variants in familial pancreatic cancer
| Intron | Nucleotide change | Frequency* | FA database† |
|---|---|---|---|
| *Frequency is shown as the number of alleles containing the nucleotide in parentheses over the total number of alleles examined from familial pancreatic cancer samples; †Y indicates present and N indicates not present in the Fanconi Anemia Mutation Database at http://www.rockefeller.edu/fanconi/mutate/jumpa.html. DNA numbering is based on the cDNA sequence. The GenBank reference sequence and version number NM_000135.1 was used. Position +1 corresponds to the A of the ATG translation initiation codon. Protein sequences are numbered with the initiator methionine as codon 1. | |||
| 3 | c.283+44T>C | 2/44(C) | N |
| 3 | c.284−103T>C | 1/44(C) | N |
| 3 | c.284−151C>T | 1/44(T) | N |
| 4 | c.426+68A>G | 8/44(G) | N |
| 7 | c.710−12A>G | 24/44(A) | Y |
| 8 | c.792+52C>G | 1/44(G) | N |
| 8 | c.792+81_82del | 1/44 | N |
| 10 | c.894−30A>G | 7/44(G) | N |
| 12 | c.1084−93C>T | 18/44(T) | N |
| 12 | c.1084−49G>C | 19/44(C) | Y |
| 12 | c.1084−29A>G | 12/44(G) | Y |
| 13 | c.1226−20A>G | 14/44(G) | Y |
| 18 | c.1715+82T>C | 16/44(C) | Y |
| 19 | c.1777−29T>C | 7/44(C) | N |
| 20 | c.1826+15T>C | 9/44(C) | Y |
| 20 | c.1826+30insGT | 7/44 | Y |
| 22 | c.2014+42G>T | 8/44(T) | Y |
| 22 | c.2015−71G>A | 2/44(A) | N |
| 25 | c.2316+67A>G | 2/44(G) | N |
| 25 | c.2316+96G>T | 1/44(T) | N |
| 27 | c.2602−36G>T | 1/44(T) | Y |
| 27 | c.2602−46T>A | 1/44(A) | N |
| 28 | c.2778+55G>T | 1/44(T) | N |
| 28 | c.2779−7T>C | 5/44(C) | N |
| 31 | c.3066+55A>G | 15/44(G) | N |
| 31 | c.3067−4T>C | 6/44(C) | Y |
| 31 | c.3067−23G>A | 6/44(A) | Y |
| 31 | c.3067−57A>C | 6/44(C) | Y |
| 32 | c.3240−42G>A | 12/44(A) | Y |
| 34 | c.3408+45G>A | 6/44(A) | Y |
| 35 | c.3513+62C>T | 8/44(T) | Y |
| 37 | c.3765+37A>G | 6/44(G) | N |
| 38 | c.3829−82C>G | 6/44(G) | Y |
| 39 | c.3935−16C>T | 6/44(T) | Y |
| 39 | c.3935−102C>T | 1/44(T) | N |
| 42 | c.4260+29C>T | 24/44(C) | Y |