Codon | Nucleotide change | Amino acid change | Codon change | No. of cases | Proportion among 1267 cases |
---|---|---|---|---|---|
Any | Any | Any | Any | 505 | 40% |
12 | Any | Any | Any | 344 | 27% |
13 | Any | Any | Any | 115 | 9.1% |
61 | Any | Any | Any | 19 | 1.5% |
146 | Any | Any | Any | 40 | 3.2% |
Mutations identified in only one of codons 12, 13, 61 and 146 | Â | Â | |||
12 | c.34G>A | p.G12S | GGT>AGT | 12 | 1.0% |
12 | c.34G>C | p.G12R | GGT>CGT | 7 | 0.6% |
12 | c.34G>T | p.G12C | GGT>TGT | 43 | 3.4% |
12 | c.35G>A | p.G12D | GGT>GAT | 157 | 12% |
12 | c.35G>C | p.G12A | GGT>GCT | 20 | 1.6% |
12 | c.35G>T | p.G12V | GGT>GTT | 93 | 7.3% |
12 | c.35_36delinsCA | p.G12A | GGT>GCA | 1 | 0.1% |
13 | c.37G>C | p.G13R | GGC>CGC | 1 | 0.1% |
13 | c.37G>T | p.G13C | GGC>TGC | 2 | 0.2% |
13 | c.38G>A | p.G13D | GGC>GAC | 103 | 8.1% |
13 | c.38G>T | p.G13V | GGC>GTC | 2 | 0.2% |
61 | c.182A>G | p.Q61R | CAA>CGA | 2 | 0.2% |
61 | c.182A>T | p.Q61L | CAA>CTA | 4 | 0.3% |
61 | c.183A>C | p.Q61H | CAA>CAC | 7 | 0.6% |
60, 61 | c.180_181delinsAA | p.Q61K | GGT + CAA>GGA + AAA | 4 | 0.3% |
146 | c.436G>A | p.A146T | GCA>ACA | 21 | 1.7% |
146 | c.436G>C | p.A146P | GCA>CCA | 3 | 0.2% |
146 | c.437C>T | p.A146V | GCA>GTA | 11 | 0.9% |
Mutations identified in two or more of codons 12, 13, 61 and 146 | Â | Â | |||
12, 13 | c.35G>A, c.38G>A | p.G12D, p.G13D | GGT>GAT, GGC>GAC | 4 | 0.3% |
12, 13 | c.35G>T, c.37G>T | p.G12V, p.G13C | GGT>GTT, GGC>TGC | 1 | 0.1% |
12, | c.35G>T, | p.G12V, | GGT>GTT, GGT + CAA>GGA + AAA | 1 | 0.1% |
60, 61 | c.180_181delinsAA | p.Q61K | |||
12, 146 | c.34G>C, c.436G>A | p.G12R, p.A146T | GGT>CGT, GCA>ACA | 1 | 0.1% |
12, 146 | c.34G>T, c.436G>A | p.G12C, p.A146T | GGT>TGT, GCA>ACA | 1 | 0.1% |
12, 146 | c.34G>T, c.437C>T | p.G12C, p.A146V | GGT>TGT, GCA>GTA | 1 | 0.1% |
12, 146 | c.35G>T, c.436G>A | p.G12V, p.A146T | GGT>GTT, GCA>ACA | 1 | 0.1% |
13, 146 | c.38G>A, c.436G>A | p.G13D, p.A146T | GGC>GAC, GCA>ACA | 1 | 0.1% |
12, 13, 61 | c.35G>A, c.38G>A, c.183A>T | p.G12D, p.G13D, p.Q61H | GGT>GAT, GGC>GAC, CAA>CAT | 1 | 0.1% |