| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63959273A= | CA2270169515 | SCN4A | c.2011T= (p.Phe671=) | |
| 17 | g.63959273A>C | CA400631579 | SCN4A | c.2011T>G (p.Phe671Val) | |
| 17 | g.63959273A>G | CA16607817 | SCN4A | c.2011T>C (p.Phe671Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63959273A>T | CA400631578 | SCN4A | c.2011T>A (p.Phe671Ile) | |
| 17 | g.63959274G>A | CA8709691 | SCN4A | c.2010C>T (p.Ser670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63959274G>C | CA501225689 | SCN4A | c.2010C>G (p.Ser670=) | |
| 17 | g.63959274G= | CA2270169516 | SCN4A | c.2010C= (p.Ser670=) | |
| 17 | g.63959274G>T | CA292966936 | SCN4A | c.2010C>A (p.Ser670=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63959275G>A | CA400631581 | SCN4A | c.2009C>T (p.Ser670Phe) | gnomAD v4 |
| 17 | g.63959275G>C | CA292966938 | SCN4A | c.2009C>G (p.Ser670Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63959275G= | CA2270169517 | SCN4A | c.2009C= (p.Ser670=) | |
| 17 | g.63959275G>T | CA400631582 | SCN4A | c.2009C>A (p.Ser670Tyr) | ClinVar dbSNP |
| 17 | g.63959275_63959276delinsCT | CA2739268304 | SCN4A | c.2008_2009delinsAG (p.Ser670=) | ClinVar |
| 17 | g.63959276A= | CA2270169518 | SCN4A | c.2008T= (p.Ser670=) | |
| 17 | g.63959276A>C | CA400631591 | SCN4A | c.2008T>G (p.Ser670Ala) | |
| 17 | g.63959276A>G | CA8709692 | SCN4A | c.2008T>C (p.Ser670Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63959276A>T | CA292966940 | SCN4A | c.2008T>A (p.Ser670Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63959277G>A | CA501225690 | SCN4A | c.2007C>T (p.Arg669=) | dbSNP gnomAD v4 |
| 17 | g.63959277G>C | CA501225691 | SCN4A | c.2007C>G (p.Arg669=) | |
| 17 | g.63959277G= | CA2270169519 | SCN4A | c.2007C= (p.Arg669=) | |
| 17 | g.63959277G>T | CA501225692 | SCN4A | c.2007C>A (p.Arg669=) | |
| 17 | g.63959278C>A | CA400631594 | SCN4A | c.2006G>T (p.Arg669Leu) | |
| 17 | g.63959278C= | CA2270169520 | SCN4A | c.2006G= (p.Arg669=) | |
| 17 | g.63959278C>G | CA400631596 | SCN4A | c.2006G>C (p.Arg669Pro) | |
| 17 | g.63959278C>T | CA253651 | SCN4A | c.2006G>A (p.Arg669His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63959279G>A | CA292966944 | SCN4A | c.2005C>T (p.Arg669Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63959279G>C | CA400631598 | SCN4A | c.2005C>G (p.Arg669Gly) | |
| 17 | g.63959279G= | CA2270169521 | SCN4A | c.2005C= (p.Arg669=) | |
| 17 | g.63959279G>T | CA400631599 | SCN4A | c.2005C>A (p.Arg669Ser) | |
| 17 | g.63959280T>A | CA501225693 | SCN4A | c.2004A>T (p.Leu668=) | |
| 17 | g.63959280T>C | CA501225694 | SCN4A | c.2004A>G (p.Leu668=) | |
| 17 | g.63959280T>G | CA501225695 | SCN4A | c.2004A>C (p.Leu668=) | |
| 17 | g.63959281A>C | CA400631600 | SCN4A | c.2003T>G (p.Leu668Arg) | |
| 17 | g.63959281A>G | CA400631601 | SCN4A | c.2003T>C (p.Leu668Pro) | |
| 17 | g.63959281A>T | CA400631602 | SCN4A | c.2003T>A (p.Leu668Gln) | |
| 17 | g.63959282G>A | CA501225696 | SCN4A | c.2002C>T (p.Leu668=) | |
| 17 | g.63959282G>C | CA400631603 | SCN4A | c.2002C>G (p.Leu668Val) | dbSNP |
| 17 | g.63959282G= | CA2270169522 | SCN4A | c.2002C= (p.Leu668=) | |
| 17 | g.63959282G>T | CA400631604 | SCN4A | c.2002C>A (p.Leu668Ile) | |
| 17 | g.63959283C>A | CA501225699 | SCN4A | c.2001G>T (p.Val667=) | |
| 17 | g.63959283C>G | CA501225698 | SCN4A | c.2001G>C (p.Val667=) | |
| 17 | g.63959283C>T | CA501225697 | SCN4A | c.2001G>A (p.Val667=) | ClinVar gnomAD v4 |
| 17 | g.63959285_63959286del | CA2639316371 | SCN4A | c.2000_2001del (p.Val667AlafsTer?) | gnomAD v4 |
| 17 | g.63959285_63959290dup | CA16620556 | SCN4A | c.1996_2001dup (p.Val667_Leu668insSerVal) | ClinVar dbSNP |
| 17 | g.63959284A>C | CA400631605 | SCN4A | c.2000T>G (p.Val667Gly) | |
| 17 | g.63959284A>G | CA400631606 | SCN4A | c.2000T>C (p.Val667Ala) | |
| 17 | g.63959284A>T | CA400631608 | SCN4A | c.2000T>A (p.Val667Glu) | |
| 17 | g.63959285C>A | CA400631609 | SCN4A | c.1999G>T (p.Val667Leu) | |
| 17 | g.63959285C= | CA2270169523 | SCN4A | c.1999G= (p.Val667=) | |
| 17 | g.63959285C>G | CA400631610 | SCN4A | c.1999G>C (p.Val667Leu) |