Exon | Mutation type | Nucleotide Change | AA change | N |
---|---|---|---|---|
18 | missense | c.2126A>C | p.E709A | 1 |
 |  | c.2155G>A * | p.G719S | 1 |
 |  | c.2156G>C | p.G719A | 1 |
 |  | c.2170G>A * | p.G724S | 1 |
 | deletion/insertion | c.2127_2130del4insC | p.E709_T710delinsD | 1 |
19 | deletion/insertion | c.2233_2245del15 | p.K745_D749del | 1 |
 |  | c.2235_2249del15 | p.E746_A750del | 19 |
 |  | c.2235_2249del15insTTC | p.E746_A750delinsF | 1 |
 |  | c.2236_2250del15 | p.E746_A750del | 9 |
 |  | c.2237_2251del15 | p.E746_A750del | 1 |
 |  | c.2237_2252del16insT | p.E746_A750delinsV | 2 |
 |  | c.2237_2238ins18 | p.E746VinsPVAIKE | 1 |
 |  | c.2239_2248del10insC | p.L747_D749delinsP | 1 |
 |  | c.2239_2251del13insC | p.L747_T751delinsP | 1 |
 |  | c.2239_2258del20insCA | p.L747_P753delinsQ | 1 |
 |  | c.2240_2254del15 | p.L747_T751del | 2 |
 |  | c.2240_2257del18 | p.L747_P753delinsS | 6 |
 |  | c.2252_2276del25insA | p.T751_I759delinsN | 1 |
20 | missense | c.2303G>T | p.S768I | 3 |
 | deletion/insertion | c.2300_2308del9 | p.A767_V769del | 1 |
 |  | c.2309_2310insCCAGCGTGG | p.D770_H773insGSVD | 1 |
 |  | c.2311A>G, 2312_2313insGGT | p.N771_P772insGY | 1 |
 |  | c.2317delCinsTACAACCCCT | p.H773_R776insYNPY | 1 |
 |  | c.2322_2323insCCACGT | p.C775_R776insPA | 1 |
 | silent mutation | c.2289C>T | p.A763A | 1 |
 |  | c.2313C>T | p.N771N | 1 |
21 | missense | c.2506C>T | p.R836C | 1 |
 |  | c.2573T>G | p.L858R | 13 |
 | Total |  |  | 75 |