| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63945508T>A | CA400618010 | SCN4A | c.3572A>T (p.Asn1191Ile) | |
| 17 | g.63945508T>C | CA400618009 | SCN4A | c.3572A>G (p.Asn1191Ser) | |
| 17 | g.63945508T>G | CA400618007 | SCN4A | c.3572A>C (p.Asn1191Thr) | |
| 17 | g.63945509T>A | CA400618011 | SCN4A | c.3571A>T (p.Asn1191Tyr) | |
| 17 | g.63945509T>C | CA400618012 | SCN4A | c.3571A>G (p.Asn1191Asp) | |
| 17 | g.63945509T>G | CA400618014 | SCN4A | c.3571A>C (p.Asn1191His) | |
| 17 | g.63945510G>A | CA501348675 | SCN4A | c.3570C>T (p.Ile1190=) | |
| 17 | g.63945510G>C | CA400618016 | SCN4A | c.3570C>G (p.Ile1190Met) | |
| 17 | g.63945510G>T | CA501348676 | SCN4A | c.3570C>A (p.Ile1190=) | |
| 17 | g.63945511A>C | CA400618018 | SCN4A | c.3569T>G (p.Ile1190Ser) | |
| 17 | g.63945511A>G | CA400618020 | SCN4A | c.3569T>C (p.Ile1190Thr) | |
| 17 | g.63945511A>T | CA400618022 | SCN4A | c.3569T>A (p.Ile1190Asn) | |
| 17 | g.63945512T>A | CA400618024 | SCN4A | c.3568A>T (p.Ile1190Phe) | dbSNP |
| 17 | g.63945512T>C | CA400618025 | SCN4A | c.3568A>G (p.Ile1190Val) | |
| 17 | g.63945512T>G | CA400618027 | SCN4A | c.3568A>C (p.Ile1190Leu) | |
| 17 | g.63945512T= | CA2270162651 | SCN4A | c.3568A= (p.Ile1190=) | |
| 17 | g.63945513G>A | CA501348677 | SCN4A | c.3567C>T (p.Cys1189=) | |
| 17 | g.63945513G>C | CA400618030 | SCN4A | c.3567C>G (p.Cys1189Trp) | |
| 17 | g.63945513G= | CA2270162653 | SCN4A | c.3567C= (p.Cys1189=) | |
| 17 | g.63945513G>T | CA400618032 | SCN4A | c.3567C>A (p.Cys1189Ter) | dbSNP |
| 17 | g.63945514C>A | CA400618038 | SCN4A | c.3566G>T (p.Cys1189Phe) | |
| 17 | g.63945514C>G | CA400618037 | SCN4A | c.3566G>C (p.Cys1189Ser) | |
| 17 | g.63945514C>T | CA400618035 | SCN4A | c.3566G>A (p.Cys1189Tyr) | |
| 17 | g.63945515A>C | CA400618044 | SCN4A | c.3565T>G (p.Cys1189Gly) | |
| 17 | g.63945515A>G | CA400618042 | SCN4A | c.3565T>C (p.Cys1189Arg) | |
| 17 | g.63945515A>T | CA400618046 | SCN4A | c.3565T>A (p.Cys1189Ser) | |
| 17 | g.63945516G>A | CA8709233 | SCN4A | c.3564C>T (p.Tyr1188=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63945516G>C | CA400618049 | SCN4A | c.3564C>G (p.Tyr1188Ter) | |
| 17 | g.63945516G= | CA2270162655 | SCN4A | c.3564C= (p.Tyr1188=) | |
| 17 | g.63945516G>T | CA400618051 | SCN4A | c.3564C>A (p.Tyr1188Ter) | |
| 17 | g.63945517T>A | CA400618055 | SCN4A | c.3563A>T (p.Tyr1188Phe) | |
| 17 | g.63945517T>C | CA400618057 | SCN4A | c.3563A>G (p.Tyr1188Cys) | |
| 17 | g.63945517T>G | CA400618058 | SCN4A | c.3563A>C (p.Tyr1188Ser) | |
| 17 | g.63945518A= | CA2270162657 | SCN4A | c.3562T= (p.Tyr1188=) | |
| 17 | g.63945518A>C | CA400618066 | SCN4A | c.3562T>G (p.Tyr1188Asp) | |
| 17 | g.63945518A>G | CA8709234 | SCN4A | c.3562T>C (p.Tyr1188His) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.63945518A>T | CA400618064 | SCN4A | c.3562T>A (p.Tyr1188Asn) | |
| 17 | g.63945519G>A | CA501348678 | SCN4A | c.3561C>T (p.Tyr1187=) | |
| 17 | g.63945519G>C | CA400618069 | SCN4A | c.3561C>G (p.Tyr1187Ter) | |
| 17 | g.63945519G>T | CA400618071 | SCN4A | c.3561C>A (p.Tyr1187Ter) | |
| 17 | g.63945520T>A | CA400618074 | SCN4A | c.3560A>T (p.Tyr1187Phe) | |
| 17 | g.63945520T>C | CA400618075 | SCN4A | c.3560A>G (p.Tyr1187Cys) | gnomAD v4 |
| 17 | g.63945520T>G | CA400618077 | SCN4A | c.3560A>C (p.Tyr1187Ser) | |
| 17 | g.63945521A>C | CA400618080 | SCN4A | c.3559T>G (p.Tyr1187Asp) | |
| 17 | g.63945521A>G | CA400618083 | SCN4A | c.3559T>C (p.Tyr1187His) | |
| 17 | g.63945521A>T | CA400618082 | SCN4A | c.3559T>A (p.Tyr1187Asn) | |
| 17 | g.63945522G>A | CA501348679 | SCN4A | c.3558C>T (p.Phe1186=) | |
| 17 | g.63945522G>C | CA400618084 | SCN4A | c.3558C>G (p.Phe1186Leu) | |
| 17 | g.63945522G= | CA2270162659 | SCN4A | c.3558C= (p.Phe1186=) | |
| 17 | g.63945522G>T | CA8709235 | SCN4A | c.3558C>A (p.Phe1186Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |