| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63957327G>A | CA501225434 | SCN4A | c.2211C>T (p.Cys737=) | |
| 17 | g.63957327G>C | CA400630173 | SCN4A | c.2211C>G (p.Cys737Trp) | |
| 17 | g.63957327G= | CA2270168618 | SCN4A | c.2211C= (p.Cys737=) | |
| 17 | g.63957327G>T | CA400630175 | SCN4A | c.2211C>A (p.Cys737Ter) | dbSNP |
| 17 | g.63957328C>A | CA400630180 | SCN4A | c.2210G>T (p.Cys737Phe) | |
| 17 | g.63957328C>G | CA400630183 | SCN4A | c.2210G>C (p.Cys737Ser) | |
| 17 | g.63957328C>T | CA400630185 | SCN4A | c.2210G>A (p.Cys737Tyr) | dbSNP |
| 17 | g.63957329A= | CA2270168619 | SCN4A | c.2209T= (p.Cys737=) | |
| 17 | g.63957329A>C | CA400630187 | SCN4A | c.2209T>G (p.Cys737Gly) | |
| 17 | g.63957329A>G | CA400630188 | SCN4A | c.2209T>C (p.Cys737Arg) | ClinVar dbSNP |
| 17 | g.63957329A>T | CA400630189 | SCN4A | c.2209T>A (p.Cys737Ser) | |
| 17 | g.63957330G>A | CA8709636 | SCN4A | c.2208C>T (p.Asp736=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63957330G>C | CA400630196 | SCN4A | c.2208C>G (p.Asp736Glu) | |
| 17 | g.63957330G= | CA2270168620 | SCN4A | c.2208C= (p.Asp736=) | |
| 17 | g.63957330G>T | CA400630193 | SCN4A | c.2208C>A (p.Asp736Glu) | |
| 17 | g.63957331T>A | CA400630197 | SCN4A | c.2207A>T (p.Asp736Val) | |
| 17 | g.63957331T>C | CA400630199 | SCN4A | c.2207A>G (p.Asp736Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63957331T>G | CA400630202 | SCN4A | c.2207A>C (p.Asp736Ala) | |
| 17 | g.63957331T= | CA2270168621 | SCN4A | c.2207A= (p.Asp736=) | |
| 17 | g.63957332C>A | CA400630204 | SCN4A | c.2206G>T (p.Asp736Tyr) | |
| 17 | g.63957332C>G | CA400630207 | SCN4A | c.2206G>C (p.Asp736His) | |
| 17 | g.63957332C>T | CA400630209 | SCN4A | c.2206G>A (p.Asp736Asn) | gnomAD v4 |
| 17 | g.63957333C>A | CA400630211 | SCN4A | c.2205G>T (p.Leu735Phe) | |
| 17 | g.63957333C>G | CA400630214 | SCN4A | c.2205G>C (p.Leu735Phe) | |
| 17 | g.63957333C>T | CA501225439 | SCN4A | c.2205G>A (p.Leu735=) | |
| 17 | g.63957334A= | CA2270168622 | SCN4A | c.2204T= (p.Leu735=) | |
| 17 | g.63957334A>C | CA400630216 | SCN4A | c.2204T>G (p.Leu735Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63957334A>G | CA400630220 | SCN4A | c.2204T>C (p.Leu735Ser) | |
| 17 | g.63957334A>T | CA400630222 | SCN4A | c.2204T>A (p.Leu735Ter) | dbSNP |
| 17 | g.63957335A>C | CA400630224 | SCN4A | c.2203T>G (p.Leu735Val) | gnomAD v4 |
| 17 | g.63957335A>G | CA501225440 | SCN4A | c.2203T>C (p.Leu735=) | |
| 17 | g.63957335A>T | CA400630227 | SCN4A | c.2203T>A (p.Leu735Met) | |
| 17 | g.63957336G>A | CA501225441 | SCN4A | c.2202C>T (p.Ala734=) | |
| 17 | g.63957336G>C | CA501225443 | SCN4A | c.2202C>G (p.Ala734=) | |
| 17 | g.63957336G>T | CA501225444 | SCN4A | c.2202C>A (p.Ala734=) | |
| 17 | g.63957337G>A | CA400630232 | SCN4A | c.2201C>T (p.Ala734Val) | |
| 17 | g.63957337G>C | CA400630234 | SCN4A | c.2201C>G (p.Ala734Gly) | |
| 17 | g.63957337G>T | CA400630230 | SCN4A | c.2201C>A (p.Ala734Asp) | |
| 17 | g.63957338C>A | CA8709637 | SCN4A | c.2200G>T (p.Ala734Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63957338C= | CA2270168623 | SCN4A | c.2200G= (p.Ala734=) | |
| 17 | g.63957338C>G | CA400630238 | SCN4A | c.2200G>C (p.Ala734Pro) | |
| 17 | g.63957338C>T | CA8709638 | SCN4A | c.2200G>A (p.Ala734Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63957339A= | CA2270168624 | SCN4A | c.2199T= (p.Ile733=) | |
| 17 | g.63957339A>C | CA400630242 | SCN4A | c.2199T>G (p.Ile733Met) | |
| 17 | g.63957339A>G | CA292966342 | SCN4A | c.2199T>C (p.Ile733=) | dbSNP |
| 17 | g.63957339A>T | CA501225445 | SCN4A | c.2199T>A (p.Ile733=) | |
| 17 | g.63957340A= | CA2270168625 | SCN4A | c.2198T= (p.Ile733=) | |
| 17 | g.63957340A>C | CA400630785 | SCN4A | c.2198T>G (p.Ile733Ser) | |
| 17 | g.63957340A>G | CA8709639 | SCN4A | c.2198T>C (p.Ile733Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63957340A>T | CA400630786 | SCN4A | c.2198T>A (p.Ile733Asn) |