Mutation | Change | Brazil (n = 102) | USA (n = 105) | Filipino (n = 49) | Control chromosomes | ||
---|---|---|---|---|---|---|---|
Brazilian | European | Filipino | |||||
–9C→G | 5′UTR/Sp | 2 | 0 | 0 | 0/192 | 0/104 | 0/149 |
72C→T | L24L | 0 | 0 | 3 | 0/192 | 0/104 | 7/149 |
105–106 delGC | Frameshift | 1 | 0 | 0 | 0/192 | 0/193 | 0/149 |
IVS1+41–42insA | Intronic | 1 | 0 | 0 | 0/192 | 1/104 | 0/149 |
IVS1-13C→A | Intronic/sp | 0 | 2 | 0 | 0/70 | 0/172 | ND |
361A→G | M121V | 1 | 0 | 0 | 0/192 | 0/104 | ND |
IVS3+30G→A | Intronic | 0 | 1 | 0 | 0/192 | ND | ND |
548C→T | P183L | 0 | 1 | 0 | 0/143 | 0/112 | ND |
559G→A | E187K | 7 | 7 | 0 | 8/143 | 5/112 | ND |
581–582insCAG | S195–196ins | 2 | 0 | 0 | 0/143 | 0/112 | ND |
883T→C | L295L | 6 | 1 | 0 | 19/185 | ND | ND |
IVS7+12T→G | Intronic | 0 | 0 | 0 | 2/185 | ND | ND |
IVS7+56–57delC | Intronic | 8 | 1 | 17 | 16/185 | ND | ND |
1212C→T | A404A | 0 | 1 | 0 | 0/182 | ND | ND |
1591A→G | 3′UTR | 0 | 0 | 1 | 0/182 | ND | 2/102 |