| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63944708C>A | CA400617289 | SCN4A | c.3877G>T (p.Val1293Phe) | |
| 17 | g.63944708C= | CA2270162658 | SCN4A | c.3877G= (p.Val1293=) | |
| 17 | g.63944708C>G | CA400617290 | SCN4A | c.3877G>C (p.Val1293Leu) | ClinVar |
| 17 | g.63944708C>T | CA117846 | SCN4A | c.3877G>A (p.Val1293Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63944709G>A | CA501217836 | SCN4A | c.3876C>T (p.Gly1292=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63944709G>C | CA501217837 | SCN4A | c.3876C>G (p.Gly1292=) | |
| 17 | g.63944709G= | CA2270162660 | SCN4A | c.3876C= (p.Gly1292=) | |
| 17 | g.63944709G>T | CA501217838 | SCN4A | c.3876C>A (p.Gly1292=) | |
| 17 | g.63944710C>A | CA400617291 | SCN4A | c.3875G>T (p.Gly1292Val) | |
| 17 | g.63944710C>G | CA400617292 | SCN4A | c.3875G>C (p.Gly1292Ala) | |
| 17 | g.63944710C>T | CA400617293 | SCN4A | c.3875G>A (p.Gly1292Asp) | |
| 17 | g.63944711C>A | CA400617296 | SCN4A | c.3874G>T (p.Gly1292Cys) | |
| 17 | g.63944711C= | CA2270162662 | SCN4A | c.3874G= (p.Gly1292=) | |
| 17 | g.63944711C>G | CA400617295 | SCN4A | c.3874G>C (p.Gly1292Arg) | |
| 17 | g.63944711C>T | CA400617294 | SCN4A | c.3874G>A (p.Gly1292Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63944712A>C | CA400617297 | SCN4A | c.3873T>G (p.Ile1291Met) | |
| 17 | g.63944712A>G | CA501217853 | SCN4A | c.3873T>C (p.Ile1291=) | |
| 17 | g.63944712A>T | CA501217851 | SCN4A | c.3873T>A (p.Ile1291=) | |
| 17 | g.63944713del | CA2639309938 | SCN4A | c.3873del (p.Ile1291MetfsTer15) | gnomAD v4 |
| 17 | g.63944713A= | CA2270162664 | SCN4A | c.3872T= (p.Ile1291=) | |
| 17 | g.63944713A>C | CA400617298 | SCN4A | c.3872T>G (p.Ile1291Ser) | |
| 17 | g.63944713A>G | CA8709121 | SCN4A | c.3872T>C (p.Ile1291Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63944713A>T | CA400617299 | SCN4A | c.3872T>A (p.Ile1291Asn) | |
| 17 | g.63944714T>A | CA400617300 | SCN4A | c.3871A>T (p.Ile1291Phe) | |
| 17 | g.63944714T>C | CA8709122 | SCN4A | c.3871A>G (p.Ile1291Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63944714T>G | CA400617301 | SCN4A | c.3871A>C (p.Ile1291Leu) | |
| 17 | g.63944714T= | CA2270162666 | SCN4A | c.3871A= (p.Ile1291=) | |
| 17 | g.63944715G>A | CA501217863 | SCN4A | c.3870C>T (p.Phe1290=) | ClinVar gnomAD v4 COSMIC |
| 17 | g.63944715G>C | CA400617302 | SCN4A | c.3870C>G (p.Phe1290Leu) | |
| 17 | g.63944715G>T | CA400617303 | SCN4A | c.3870C>A (p.Phe1290Leu) | |
| 17 | g.63944716A>C | CA400617304 | SCN4A | c.3869T>G (p.Phe1290Cys) | |
| 17 | g.63944716A>G | CA400617305 | SCN4A | c.3869T>C (p.Phe1290Ser) | |
| 17 | g.63944716A>T | CA400617306 | SCN4A | c.3869T>A (p.Phe1290Tyr) | |
| 17 | g.63944717A>C | CA400617309 | SCN4A | c.3868T>G (p.Phe1290Val) | |
| 17 | g.63944717A>G | CA400617308 | SCN4A | c.3868T>C (p.Phe1290Leu) | ClinVar |
| 17 | g.63944717A>T | CA400617307 | SCN4A | c.3868T>A (p.Phe1290Ile) | |
| 17 | g.63944718G>A | CA501217877 | SCN4A | c.3867C>T (p.Leu1289=) | COSMIC |
| 17 | g.63944718G>C | CA501217879 | SCN4A | c.3867C>G (p.Leu1289=) | |
| 17 | g.63944718G>T | CA501217882 | SCN4A | c.3867C>A (p.Leu1289=) | |
| 17 | g.63944718_63944719delinsGA | CA2270162669 | SCN4A | c.3866_3867delinsTC (p.Leu1289=) | |
| 17 | g.63944719del | CA292959362 | SCN4A | c.3866del (p.Leu1289ProfsTer17) | dbSNP |
| 17 | g.63944719A>C | CA400617310 | SCN4A | c.3866T>G (p.Leu1289Arg) | |
| 17 | g.63944719A>G | CA400617311 | SCN4A | c.3866T>C (p.Leu1289Pro) | |
| 17 | g.63944719A>T | CA400617312 | SCN4A | c.3866T>A (p.Leu1289His) | |
| 17 | g.63944720G>A | CA400617313 | SCN4A | c.3865C>T (p.Leu1289Phe) | dbSNP gnomAD v4 |
| 17 | g.63944720G>C | CA400617314 | SCN4A | c.3865C>G (p.Leu1289Val) | |
| 17 | g.63944720G= | CA2270162671 | SCN4A | c.3865C= (p.Leu1289=) | |
| 17 | g.63944720G>T | CA400617315 | SCN4A | c.3865C>A (p.Leu1289Ile) | |
| 17 | g.63944721G>A | CA501217897 | SCN4A | c.3864C>T (p.Asn1288=) | |
| 17 | g.63944721G>C | CA400617316 | SCN4A | c.3864C>G (p.Asn1288Lys) |