UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51745916T>A | CA384878244 | SCN8A | c.2012T>A (p.Val671Glu) c.16T>A n.2140T>A c.1595T>A (p.Val532Glu) c.2045T>A (p.Val682Glu) | gnomAD v4 |
| 12 | g.51745916T>C | CA384878246 | SCN8A | c.2012T>C (p.Val671Ala) c.16T>C n.2140T>C c.1595T>C (p.Val532Ala) c.2045T>C (p.Val682Ala) | |
| 12 | g.51745916T>G | CA6571406 | SCN8A | c.2012T>G (p.Val671Gly) c.16T>G n.2140T>G c.1595T>G (p.Val532Gly) c.2045T>G (p.Val682Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51745916T= | CA2036190179 | SCN8A | c.2012T= (p.Val671=) c.16T= n.2140T= c.1595T= (p.Val532=) c.2045T= (p.Val682=) | |
| 12 | g.51745917G>A | CA479787902 | SCN8A | c.2013G>A (p.Val671=) c.17G>A n.2141G>A c.1596G>A (p.Val532=) c.2046G>A (p.Val682=) | gnomAD v4 |
| 12 | g.51745917G>C | CA479787901 | SCN8A | c.2013G>C (p.Val671=) c.17G>C n.2141G>C c.1596G>C (p.Val532=) c.2046G>C (p.Val682=) | |
| 12 | g.51745917G>T | CA479787900 | SCN8A | c.2013G>T (p.Val671=) c.17G>T n.2141G>T c.1596G>T (p.Val532=) c.2046G>T (p.Val682=) | gnomAD v4 |
| 12 | g.51745918G>A | CA384878250 | SCN8A | c.2014G>A (p.Glu672Lys) c.18G>A n.2142G>A c.1597G>A (p.Glu533Lys) c.2047G>A (p.Glu683Lys) | gnomAD v4 |
| 12 | g.51745918G>C | CA384878256 | SCN8A | c.2014G>C (p.Glu672Gln) c.18G>C n.2142G>C c.1597G>C (p.Glu533Gln) c.2047G>C (p.Glu683Gln) | |
| 12 | g.51745918G= | CA2036190189 | SCN8A | c.2014G= (p.Glu672=) c.18G= n.2142G= c.1597G= (p.Glu533=) c.2047G= (p.Glu683=) | |
| 12 | g.51745918G>T | CA384878260 | SCN8A | c.2014G>T (p.Glu672Ter) c.18G>T n.2142G>T c.1597G>T (p.Glu533Ter) c.2047G>T (p.Glu683Ter) | dbSNP gnomAD v4 |
| 12 | g.51745919A>C | CA384878269 | SCN8A | c.2015A>C (p.Glu672Ala) c.19A>C n.2143A>C c.1598A>C (p.Glu533Ala) c.2048A>C (p.Glu683Ala) | |
| 12 | g.51745919A>G | CA384878266 | SCN8A | c.2015A>G (p.Glu672Gly) c.19A>G n.2143A>G c.1598A>G (p.Glu533Gly) c.2048A>G (p.Glu683Gly) | gnomAD v4 |
| 12 | g.51745919A>T | CA384878264 | SCN8A | c.2015A>T (p.Glu672Val) c.19A>T n.2143A>T c.1598A>T (p.Glu533Val) c.2048A>T (p.Glu683Val) | |
| 12 | g.51745920A>C | CA384878273 | SCN8A | c.2016A>C (p.Glu672Asp) c.20A>C n.2144A>C c.1599A>C (p.Glu533Asp) c.2049A>C (p.Glu683Asp) | ClinVar |
| 12 | g.51745920A>G | CA479787903 | SCN8A | c.2016A>G (p.Glu672=) c.20A>G n.2144A>G c.1599A>G (p.Glu533=) c.2049A>G (p.Glu683=) | gnomAD v4 |
| 12 | g.51745920A>T | CA384878274 | SCN8A | c.2016A>T (p.Glu672Asp) c.20A>T n.2144A>T c.1599A>T (p.Glu533Asp) c.2049A>T (p.Glu683Asp) | |
| 12 | g.51745921A= | CA2036190193 | SCN8A | c.2017A= (p.Ile673=) c.21A= n.2145A= c.1600A= (p.Ile534=) c.2050A= (p.Ile684=) | |
| 12 | g.51745921A>C | CA384878278 | SCN8A | c.2017A>C (p.Ile673Leu) c.21A>C n.2145A>C c.1600A>C (p.Ile534Leu) c.2050A>C (p.Ile684Leu) | |
| 12 | g.51745921A>G | CA6571407 | SCN8A | c.2017A>G (p.Ile673Val) c.21A>G n.2145A>G c.1600A>G (p.Ile534Val) c.2050A>G (p.Ile684Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51745921A>T | CA384878279 | SCN8A | c.2017A>T (p.Ile673Phe) c.21A>T n.2145A>T c.1600A>T (p.Ile534Phe) c.2050A>T (p.Ile684Phe) | |
| 12 | g.51745922T>A | CA384878280 | SCN8A | c.2018T>A (p.Ile673Asn) c.22T>A n.2146T>A c.1601T>A (p.Ile534Asn) c.2051T>A (p.Ile684Asn) | |
| 12 | g.51745922T>C | CA384878281 | SCN8A | c.2018T>C (p.Ile673Thr) c.22T>C n.2146T>C c.1601T>C (p.Ile534Thr) c.2051T>C (p.Ile684Thr) | |
| 12 | g.51745922T>G | CA384878282 | SCN8A | c.2018T>G (p.Ile673Ser) c.22T>G n.2146T>G c.1601T>G (p.Ile534Ser) c.2051T>G (p.Ile684Ser) | |
| 12 | g.51745923T>A | CA479787905 | SCN8A | c.2019T>A (p.Ile673=) c.23T>A n.2147T>A c.1602T>A (p.Ile534=) c.2052T>A (p.Ile684=) | |
| 12 | g.51745923T>C | CA479787906 | SCN8A | c.2019T>C (p.Ile673=) c.23T>C n.2147T>C c.1602T>C (p.Ile534=) c.2052T>C (p.Ile684=) | COSMIC COSMIC |
| 12 | g.51745923T>G | CA384878285 | SCN8A | c.2019T>G (p.Ile673Met) c.23T>G n.2147T>G c.1602T>G (p.Ile534Met) c.2052T>G (p.Ile684Met) | |
| 12 | g.51745923T= | CA2036190199 | SCN8A | c.2019T= (p.Ile673=) c.23T= n.2147T= c.1602T= (p.Ile534=) c.2052T= (p.Ile684=) | |
| 12 | g.51745923_51745926delinsTAAG | CA2036190197 | SCN8A | c.2019_2022delinsTAAG (p.Ile673=) c.23_26delinsTAAG n.2147_2150delinsTAAG c.1602_1605delinsTAAG (p.Ile534=) c.2052_2055delinsTAAG (p.Ile684=) | |
| 12 | g.51745924A= | CA2036190211 | SCN8A | c.2020A= (p.Lys674=) c.24A= n.2148A= c.1603A= (p.Lys535=) c.2053A= (p.Lys685=) | |
| 12 | g.51745924A>C | CA384878288 | SCN8A | c.2020A>C (p.Lys674Gln) c.24A>C n.2148A>C c.1603A>C (p.Lys535Gln) c.2053A>C (p.Lys685Gln) | |
| 12 | g.51745924A>G | CA384878292 | SCN8A | c.2020A>G (p.Lys674Glu) c.24A>G n.2148A>G c.1603A>G (p.Lys535Glu) c.2053A>G (p.Lys685Glu) | dbSNP gnomAD v4 |
| 12 | g.51745924A>T | CA384878293 | SCN8A | c.2020A>T (p.Lys674Ter) c.24A>T n.2148A>T c.1603A>T (p.Lys535Ter) c.2053A>T (p.Lys685Ter) | dbSNP gnomAD v4 |
| 12 | g.51745929_51745931del | CA6571408 | SCN8A | c.2025_2027del (p.Lys676del) c.29_31del n.2153_2155del c.1608_1610del (p.Lys537del) c.2058_2060del (p.Lys687del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51745927_51745933dup | CA891843494 | SCN8A | c.2023_2029dup (p.Gly677GlufsTer?) c.27_33dup n.2151_2157dup c.1606_1612dup (p.Gly538GlufsTer?) c.2056_2062dup (p.Gly688GlufsTer?) | ClinVar dbSNP |
| 12 | g.51745925A>C | CA384878310 | SCN8A | c.2021A>C (p.Lys674Thr) c.25A>C n.2149A>C c.1604A>C (p.Lys535Thr) c.2054A>C (p.Lys685Thr) | |
| 12 | g.51745925A>G | CA384878307 | SCN8A | c.2021A>G (p.Lys674Arg) c.25A>G n.2149A>G c.1604A>G (p.Lys535Arg) c.2054A>G (p.Lys685Arg) | gnomAD v4 |
| 12 | g.51745925A>T | CA384878304 | SCN8A | c.2021A>T (p.Lys674Met) c.25A>T n.2149A>T c.1604A>T (p.Lys535Met) c.2054A>T (p.Lys685Met) | |
| 12 | g.51745926G>A | CA479787907 | SCN8A | c.2022G>A (p.Lys674=) c.26G>A n.2150G>A c.1605G>A (p.Lys535=) c.2055G>A (p.Lys685=) | |
| 12 | g.51745926G>C | CA384878319 | SCN8A | c.2022G>C (p.Lys674Asn) c.26G>C n.2150G>C c.1605G>C (p.Lys535Asn) c.2055G>C (p.Lys685Asn) | |
| 12 | g.51745926G>T | CA384878327 | SCN8A | c.2022G>T (p.Lys674Asn) c.26G>T n.2150G>T c.1605G>T (p.Lys535Asn) c.2055G>T (p.Lys685Asn) | gnomAD v4 |
| 12 | g.51745927A= | CA2036190215 | SCN8A | c.2023A= (p.Lys675=) c.27A= n.2151A= c.1606A= (p.Lys536=) c.2056A= (p.Lys686=) | |
| 12 | g.51745927A>C | CA384878332 | SCN8A | c.2023A>C (p.Lys675Gln) c.27A>C n.2151A>C c.1606A>C (p.Lys536Gln) c.2056A>C (p.Lys686Gln) | |
| 12 | g.51745927A>G | CA384878337 | SCN8A | c.2023A>G (p.Lys675Glu) c.27A>G n.2151A>G c.1606A>G (p.Lys536Glu) c.2056A>G (p.Lys686Glu) | gnomAD v4 |
| 12 | g.51745927A>T | CA384878345 | SCN8A | c.2023A>T (p.Lys675Ter) c.27A>T n.2151A>T c.1606A>T (p.Lys536Ter) c.2056A>T (p.Lys686Ter) | dbSNP |
| 12 | g.51745928A= | CA2036190218 | SCN8A | c.2024A= (p.Lys675=) c.28A= n.2152A= c.1607A= (p.Lys536=) c.2057A= (p.Lys686=) | |
| 12 | g.51745928A>C | CA384878349 | SCN8A | c.2024A>C (p.Lys675Thr) c.28A>C n.2152A>C c.1607A>C (p.Lys536Thr) c.2057A>C (p.Lys686Thr) | |
| 12 | g.51745928A>G | CA6571409 | SCN8A | c.2024A>G (p.Lys675Arg) c.28A>G n.2152A>G c.1607A>G (p.Lys536Arg) c.2057A>G (p.Lys686Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51745928A>T | CA384878360 | SCN8A | c.2024A>T (p.Lys675Met) c.28A>T n.2152A>T c.1607A>T (p.Lys536Met) c.2057A>T (p.Lys686Met) | |
| 12 | g.51745929G>A | CA479787909 | SCN8A | c.2025G>A (p.Lys675=) c.29G>A n.2153G>A c.1608G>A (p.Lys536=) c.2058G>A (p.Lys686=) | gnomAD v4 |