PKR1 |
Ug2462 |
n.1333C>T|p.Arg445*|1333/1449 |
Bt117 |
n.1274_1280dupCTCTCCT|p.Asn428fs|1280/1449 |
Bt77 |
n.1293dupA|p.Arg432fs|1293/1449 |
8–1 |
n.878_911delCCGAGGGGAGCTCGTTTGGGGAGTTAGCGCTGAT|p.Ser293fs|911/1449 |
Bt58 |
n.742G>T|p.Glu248*|742/1449 |
AD2-06a |
n.375_376delAG|p.Gly125fs|376/1449 |
Bt156 |
n.41dupA|p.Asp14fs|41/1449 |
CAC1 |
Bt133 |
n.41delA|p.His14fs |41/6930 |
|
8–1 |
n.2_3insA| |p.Met1fs|2/6930 ; n.80G>A|p.Trp27*|80/6930 ; n.81G>A|p.Trp27*|81/6930 |
|
AD3-11a |
n.2_3insA| |p.Met1fs|2/6930 |
|
AD3-9a |
n.2_3insA| |p.Met1fs|2/6930 |
|
AD5-67a |
n.2_3insA| |p.Met1fs|2/6930 |
|
Ug2462 |
n.2_3insA| |p.Met1fs|2/6930 |
USV101 |
Bt88 |
n.842dupC|p.His282fs |