No.4-a | Nucleotide Change | a.a. Change | Exon | Allele Frequency4-150 | Heterozygotes (%) | Homozygotes (%) |
---|---|---|---|---|---|---|
V1 | A107G | D36G | 2 | 5 /100 | 6 | 2 |
V2 | G175A | V59I | 3 | 3 /100 | 6 | – |
V3 | Ins211GAC | Ins71D | 3 | 27 /100 | 42 | 6 |
V4 | Del337G | Frameshift | 4 | 27 /100 | 38 | 8 |
V5 | T545C | F182S | 5 | 8 /100 | 8 | 4 |
V6 | C584T | S195L | 5 | 51 /100 | 42 | 30 |
V7 | G713A | R238Q | 6 | 2 /100 | 4 | – |
V8 | Ins1160TCAAGCTC | Frameshift | 7 | 1 /100 | 2 | – |
V9 | G1172C | R391T | 7 | 1 /100 | 2 | – |
V10 | T1239G | N413K | 8 | 27 /100 | 38 | 8 |
V11 | T1414C | X472Q | 9 | 11 /100 | 14 | 4 |
V12 | Ins1589T | Frameshift | 9 | 5 /100 | 10 | – |
N1 | A585G | S195S | 5 | |||
N2 | Ins IVS5 + 56 A | n/a | 5 | |||
N3 | IVS6 + 39 T > C | n/a | 6 | |||
N4 | G1101A | A367A | 7 | |||
N5 | G1206A | E402E | 8 | |||
N6 | A1476G | K492K | 9 |