Spectrum of GA1 mutations, haplotype associations, and origin of alleles
| Exon | Mutation | Base change | No | Haplotype | CpG | Novel | Origin |
| IVS2-2A>T | c.138-2A>T | 1 | b | x | Germany | ||
| 3 | W50C | c.150G>C | 1 | x | Chile | ||
| 219delC | c.219delC | 1 | a | x | Germany | ||
| Q76X | c.226C>T | 1 | b | x | Germany | ||
| R88C | c.262C>T | 52-150 | a | x | Austria | ||
| 5 | Y113H | c.337T>C | 32-152 | h | x | Chile | |
| R128Q | c.383G>A | 32-150 | a | x | x | Turkey2-150, Germany | |
| R132Q | c.395G>A | 2 | a, b | x | x | Turkey, Germany | |
| V133M | c.397G>A | 1 | a | x | Chile | ||
| R138K | c.413G>A | 1 | a | x | England | ||
| V148I | c.442G>A | 1 | h | x | England | ||
| R161Q | c.482G>A | 1 | a | x | Chile | ||
| IVS5+1G>A | c.515+1G>A | 22-150 | a | x | Palestine | ||
| 6 | C176R | c.526T>C | 1 | b | x | Indonesia | |
| E181Q | c.541G>C | 1 | h | x | Turkey | ||
| G185A | c.554G>C | 1 | a | x | Germany | ||
| A195T | c.583G>A | 1 | h | Austria | |||
| IVS6-1G>A | c.636-1G>A | 1 | h | x | Greece | ||
| 7 | P217L | c.650C>T | 22-150 | a | x | Greece | |
| R227P | c.680G>C | 3 | a | USA, England | |||
| F236L | c.706T>C | 1 | a | Germany | |||
| P248L | c.743C>T | 62-151 | a | x | Turkey2-151, Italy | ||
| R257W | v769C>T | 1 | c | x | Germany | ||
| S259P | c.775T>C | 3 | a | x | Germany | ||
| P278S | c.832C>T | 1 | h | Germany | |||
| 8 | A293T | c.877G>A | 22-150 | h | x | Chile | |
| L309W | c.926T>G | 1 | b | England | |||
| R313Q | c.938G>A | 1 | b | x | x | Germany | |
| 9 | R355H | c.1064G>A | 32-150 | h | x | Germany2-150, Turkey | |
| 10 | E365K | c.1093G>A | 52-151 | a, (b) | x | Turkey2-151, USA | |
| A385V | c.1154C>T | 1 | h | x | Chile | ||
| R386X | c.1156C>T | 1 | b | x | Germany | ||
| R402W | c.1204C>T | 242-151 | h, (a) | x | Germany, Europe | ||
| R402Q | c.1205G>A | 22-150 | a | x | Germany | ||
| L407P | c.1220T>C | 22-150 | h | Turkey | |||
| Y413X | c.1239C>A | 1 | a | x | Greece | ||
| 11 | A421V (Amish) | c.1262C>T | 72-150 | h | Germany, Austria, Italy, Croatia | ||
| T429M | c.1286C>T | 1 | a | x | Germany | ||
| Total | 38 | 96 | 14 | 20 |
Haplotype = haplotype as denoted in table 3; CpG = hypermutable CpG mutation; Novel = novel mutation.
↵2-150 = homozygous in one patient;
↵2-151 = homozygous in more than one patient;
↵2-152 = apparent homozygosity in one patient that could also be the result of hemizygosity with a large deletion on the paternal chromosome. Haplotypes in parentheses were found on single chromosomes only. The numbering of cDNA nucleotides (c.) follows the recommendation of the Nomenclature Working Group9 and starts with 1 at the initiator codon; values are therefore 36 nucleotides smaller than those used in previous publications on GA1 mutations.