Genomic variant notations found in the bodies of literature in PubMed and PMC Open Access Subset* (Standard nomenclatures are highlighted with gray)
| Type . | Example . | Numbers . | Percentage . |
|---|---|---|---|
| WNM | V600E | 1 107 672 | 44.95 |
| RSID | rs113488022 | 611 733 | 24.82 |
| c.Na>a | c.1799T>A | 135 510 | 5.50 |
| p.WNM | p.V600E | 105 921 | 4.30 |
| Na>a | 1799T>A | 98 228 | 3.99 |
| p.WwwNMmm | p.Val600Glu | 79 038 | 3.21 |
| WwwNMmm | Val600Glu | 57 386 | 2.33 |
| _to_ | Val to Glu | 54 125 | 2.20 |
| c.Ntype1 | c.76delA | 43 648 | 1.77 |
| Ntype1 | 76delA | 21 992 | 0.89 |
| Deletion (without genotype) | 76del | 17 481 | 0.71 |
| _with_ | V600 with Glu | 9581 | 0.39 |
| _for_ | Thr for Ile-142 | 8342 | 0.34 |
| _by_ | Val 600 by Glu | 7762 | 0.31 |
| _at_ | mutation at V600 | 7728 | 0.31 |
| c.WNM | c.T1799A | 6150 | 0.25 |
| ref:c.Na>a | NC_000023.10:g.33038255C>A | 4676 | 0.19 |
| WNfs | A456fs | 3819 | 0.15 |
| Insertion (without_genotype) | 76_77ins | 2818 | 0.11 |
| No-Location_W/M | T/A | 2487 | 0.10 |
| p.WwwNtype | p.Arg456fs | 2373 | 0.10 |
| ref:p.WNM | NP_003997.1:p.T24C | 2350 | 0.10 |
| Www-N-Mmm | Val-600-Glu | 2265 | 0.09 |
| _of_ | serine96 of histidine | 2094 | 0.08 |
| _in_ | mutation in 600 | 1977 | 0.08 |
| stop | Trp149Stop | 1967 | 0.08 |
| ref:p.WwwNMmm | NP_003997.1:p.Val600Glu | 1856 | 0.08 |
| W>M (without location) | T>A | 1305 | 0.05 |
| ref:c.Ntype2 | NM_018136.4: c.10013delA | 1305 | 0.05 |
| Na>a | 504g>a | 1164 | 0.05 |
| WwwNfs | Arg456fs | 602 | 0.02 |
| Type . | Example . | Numbers . | Percentage . |
|---|---|---|---|
| WNM | V600E | 1 107 672 | 44.95 |
| RSID | rs113488022 | 611 733 | 24.82 |
| c.Na>a | c.1799T>A | 135 510 | 5.50 |
| p.WNM | p.V600E | 105 921 | 4.30 |
| Na>a | 1799T>A | 98 228 | 3.99 |
| p.WwwNMmm | p.Val600Glu | 79 038 | 3.21 |
| WwwNMmm | Val600Glu | 57 386 | 2.33 |
| _to_ | Val to Glu | 54 125 | 2.20 |
| c.Ntype1 | c.76delA | 43 648 | 1.77 |
| Ntype1 | 76delA | 21 992 | 0.89 |
| Deletion (without genotype) | 76del | 17 481 | 0.71 |
| _with_ | V600 with Glu | 9581 | 0.39 |
| _for_ | Thr for Ile-142 | 8342 | 0.34 |
| _by_ | Val 600 by Glu | 7762 | 0.31 |
| _at_ | mutation at V600 | 7728 | 0.31 |
| c.WNM | c.T1799A | 6150 | 0.25 |
| ref:c.Na>a | NC_000023.10:g.33038255C>A | 4676 | 0.19 |
| WNfs | A456fs | 3819 | 0.15 |
| Insertion (without_genotype) | 76_77ins | 2818 | 0.11 |
| No-Location_W/M | T/A | 2487 | 0.10 |
| p.WwwNtype | p.Arg456fs | 2373 | 0.10 |
| ref:p.WNM | NP_003997.1:p.T24C | 2350 | 0.10 |
| Www-N-Mmm | Val-600-Glu | 2265 | 0.09 |
| _of_ | serine96 of histidine | 2094 | 0.08 |
| _in_ | mutation in 600 | 1977 | 0.08 |
| stop | Trp149Stop | 1967 | 0.08 |
| ref:p.WwwNMmm | NP_003997.1:p.Val600Glu | 1856 | 0.08 |
| W>M (without location) | T>A | 1305 | 0.05 |
| ref:c.Ntype2 | NM_018136.4: c.10013delA | 1305 | 0.05 |
| Na>a | 504g>a | 1164 | 0.05 |
| WwwNfs | Arg456fs | 602 | 0.02 |
*Accessed in February 2020. *Not all the examples are the same variant.
Genomic variant notations found in the bodies of literature in PubMed and PMC Open Access Subset* (Standard nomenclatures are highlighted with gray)
| Type . | Example . | Numbers . | Percentage . |
|---|---|---|---|
| WNM | V600E | 1 107 672 | 44.95 |
| RSID | rs113488022 | 611 733 | 24.82 |
| c.Na>a | c.1799T>A | 135 510 | 5.50 |
| p.WNM | p.V600E | 105 921 | 4.30 |
| Na>a | 1799T>A | 98 228 | 3.99 |
| p.WwwNMmm | p.Val600Glu | 79 038 | 3.21 |
| WwwNMmm | Val600Glu | 57 386 | 2.33 |
| _to_ | Val to Glu | 54 125 | 2.20 |
| c.Ntype1 | c.76delA | 43 648 | 1.77 |
| Ntype1 | 76delA | 21 992 | 0.89 |
| Deletion (without genotype) | 76del | 17 481 | 0.71 |
| _with_ | V600 with Glu | 9581 | 0.39 |
| _for_ | Thr for Ile-142 | 8342 | 0.34 |
| _by_ | Val 600 by Glu | 7762 | 0.31 |
| _at_ | mutation at V600 | 7728 | 0.31 |
| c.WNM | c.T1799A | 6150 | 0.25 |
| ref:c.Na>a | NC_000023.10:g.33038255C>A | 4676 | 0.19 |
| WNfs | A456fs | 3819 | 0.15 |
| Insertion (without_genotype) | 76_77ins | 2818 | 0.11 |
| No-Location_W/M | T/A | 2487 | 0.10 |
| p.WwwNtype | p.Arg456fs | 2373 | 0.10 |
| ref:p.WNM | NP_003997.1:p.T24C | 2350 | 0.10 |
| Www-N-Mmm | Val-600-Glu | 2265 | 0.09 |
| _of_ | serine96 of histidine | 2094 | 0.08 |
| _in_ | mutation in 600 | 1977 | 0.08 |
| stop | Trp149Stop | 1967 | 0.08 |
| ref:p.WwwNMmm | NP_003997.1:p.Val600Glu | 1856 | 0.08 |
| W>M (without location) | T>A | 1305 | 0.05 |
| ref:c.Ntype2 | NM_018136.4: c.10013delA | 1305 | 0.05 |
| Na>a | 504g>a | 1164 | 0.05 |
| WwwNfs | Arg456fs | 602 | 0.02 |
| Type . | Example . | Numbers . | Percentage . |
|---|---|---|---|
| WNM | V600E | 1 107 672 | 44.95 |
| RSID | rs113488022 | 611 733 | 24.82 |
| c.Na>a | c.1799T>A | 135 510 | 5.50 |
| p.WNM | p.V600E | 105 921 | 4.30 |
| Na>a | 1799T>A | 98 228 | 3.99 |
| p.WwwNMmm | p.Val600Glu | 79 038 | 3.21 |
| WwwNMmm | Val600Glu | 57 386 | 2.33 |
| _to_ | Val to Glu | 54 125 | 2.20 |
| c.Ntype1 | c.76delA | 43 648 | 1.77 |
| Ntype1 | 76delA | 21 992 | 0.89 |
| Deletion (without genotype) | 76del | 17 481 | 0.71 |
| _with_ | V600 with Glu | 9581 | 0.39 |
| _for_ | Thr for Ile-142 | 8342 | 0.34 |
| _by_ | Val 600 by Glu | 7762 | 0.31 |
| _at_ | mutation at V600 | 7728 | 0.31 |
| c.WNM | c.T1799A | 6150 | 0.25 |
| ref:c.Na>a | NC_000023.10:g.33038255C>A | 4676 | 0.19 |
| WNfs | A456fs | 3819 | 0.15 |
| Insertion (without_genotype) | 76_77ins | 2818 | 0.11 |
| No-Location_W/M | T/A | 2487 | 0.10 |
| p.WwwNtype | p.Arg456fs | 2373 | 0.10 |
| ref:p.WNM | NP_003997.1:p.T24C | 2350 | 0.10 |
| Www-N-Mmm | Val-600-Glu | 2265 | 0.09 |
| _of_ | serine96 of histidine | 2094 | 0.08 |
| _in_ | mutation in 600 | 1977 | 0.08 |
| stop | Trp149Stop | 1967 | 0.08 |
| ref:p.WwwNMmm | NP_003997.1:p.Val600Glu | 1856 | 0.08 |
| W>M (without location) | T>A | 1305 | 0.05 |
| ref:c.Ntype2 | NM_018136.4: c.10013delA | 1305 | 0.05 |
| Na>a | 504g>a | 1164 | 0.05 |
| WwwNfs | Arg456fs | 602 | 0.02 |
*Accessed in February 2020. *Not all the examples are the same variant.
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