| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63945608G>A | CA253655 | SCN4A | c.3472C>T (p.Pro1158Ser) | ClinVar dbSNP |
| 17 | g.63945608G>C | CA400618704 | SCN4A | c.3472C>G (p.Pro1158Ala) | |
| 17 | g.63945608G= | CA2270162988 | SCN4A | c.3472C= (p.Pro1158=) | |
| 17 | g.63945608G>T | CA400618707 | SCN4A | c.3472C>A (p.Pro1158Thr) | |
| 17 | g.63945609G>A | CA501219114 | SCN4A | c.3471C>T (p.Ile1157=) | gnomAD v4 |
| 17 | g.63945609G>C | CA400618710 | SCN4A | c.3471C>G (p.Ile1157Met) | dbSNP |
| 17 | g.63945609G= | CA2270162989 | SCN4A | c.3471C= (p.Ile1157=) | |
| 17 | g.63945609G>T | CA501219115 | SCN4A | c.3471C>A (p.Ile1157=) | |
| 17 | g.63945610A= | CA2270162990 | SCN4A | c.3470T= (p.Ile1157=) | |
| 17 | g.63945610A>C | CA400618715 | SCN4A | c.3470T>G (p.Ile1157Ser) | |
| 17 | g.63945610A>G | CA400618718 | SCN4A | c.3470T>C (p.Ile1157Thr) | dbSNP |
| 17 | g.63945610A>T | CA400618722 | SCN4A | c.3470T>A (p.Ile1157Asn) | ClinVar dbSNP |
| 17 | g.63945611T>A | CA400618726 | SCN4A | c.3469A>T (p.Ile1157Phe) | |
| 17 | g.63945611T>C | CA400618729 | SCN4A | c.3469A>G (p.Ile1157Val) | |
| 17 | g.63945611T>G | CA400618732 | SCN4A | c.3469A>C (p.Ile1157Leu) | |
| 17 | g.63945612G>A | CA501219116 | SCN4A | c.3468C>T (p.Ala1156=) | |
| 17 | g.63945612G>C | CA501219118 | SCN4A | c.3468C>G (p.Ala1156=) | |
| 17 | g.63945612G>T | CA501219117 | SCN4A | c.3468C>A (p.Ala1156=) | |
| 17 | g.63945613G>A | CA400618739 | SCN4A | c.3467C>T (p.Ala1156Val) | gnomAD v4 |
| 17 | g.63945613G>C | CA400618743 | SCN4A | c.3467C>G (p.Ala1156Gly) | |
| 17 | g.63945613G>T | CA400618746 | SCN4A | c.3467C>A (p.Ala1156Asp) | |
| 17 | g.63945614C>A | CA8709250 | SCN4A | c.3466G>T (p.Ala1156Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63945614C= | CA2270162991 | SCN4A | c.3466G= (p.Ala1156=) | |
| 17 | g.63945614C>G | CA400618751 | SCN4A | c.3466G>C (p.Ala1156Pro) | |
| 17 | g.63945614C>T | CA117837 | SCN4A | c.3466G>A (p.Ala1156Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945615G>A | CA8709251 | SCN4A | c.3465C>T (p.Gly1155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63945615G>C | CA501219119 | SCN4A | c.3465C>G (p.Gly1155=) | |
| 17 | g.63945615G= | CA2270162992 | SCN4A | c.3465C= (p.Gly1155=) | |
| 17 | g.63945615G>T | CA501219120 | SCN4A | c.3465C>A (p.Gly1155=) | |
| 17 | g.63945616C>A | CA400618760 | SCN4A | c.3464G>T (p.Gly1155Val) | |
| 17 | g.63945616C>G | CA400618764 | SCN4A | c.3464G>C (p.Gly1155Ala) | |
| 17 | g.63945616C>T | CA400618767 | SCN4A | c.3464G>A (p.Gly1155Asp) | |
| 17 | g.63945617C>A | CA400618768 | SCN4A | c.3463G>T (p.Gly1155Cys) | |
| 17 | g.63945617C>G | CA400618769 | SCN4A | c.3463G>C (p.Gly1155Arg) | |
| 17 | g.63945617C>T | CA400618770 | SCN4A | c.3463G>A (p.Gly1155Ser) | |
| 17 | g.63945618T>A | CA501219121 | SCN4A | c.3462A>T (p.Leu1154=) | |
| 17 | g.63945618T>C | CA501219122 | SCN4A | c.3462A>G (p.Leu1154=) | |
| 17 | g.63945618T>G | CA501219123 | SCN4A | c.3462A>C (p.Leu1154=) | |
| 17 | g.63945619A>C | CA400618772 | SCN4A | c.3461T>G (p.Leu1154Arg) | |
| 17 | g.63945619A>G | CA400618775 | SCN4A | c.3461T>C (p.Leu1154Pro) | |
| 17 | g.63945619A>T | CA400618778 | SCN4A | c.3461T>A (p.Leu1154Gln) | |
| 17 | g.63945620G>A | CA501219124 | SCN4A | c.3460C>T (p.Leu1154=) | |
| 17 | g.63945620G>C | CA400618783 | SCN4A | c.3460C>G (p.Leu1154Val) | |
| 17 | g.63945620G>T | CA400618786 | SCN4A | c.3460C>A (p.Leu1154Ile) | |
| 17 | g.63945621G>A | CA501219126 | SCN4A | c.3459C>T (p.Leu1153=) | |
| 17 | g.63945621G>C | CA8709252 | SCN4A | c.3459C>G (p.Leu1153=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63945621G= | CA2270162993 | SCN4A | c.3459C= (p.Leu1153=) | |
| 17 | g.63945621G>T | CA501219125 | SCN4A | c.3459C>A (p.Leu1153=) | |
| 17 | g.63945622A>C | CA400618795 | SCN4A | c.3458T>G (p.Leu1153Arg) | |
| 17 | g.63945622A>G | CA400618792 | SCN4A | c.3458T>C (p.Leu1153Pro) |