| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63942937_63942939del | CA2639308428 | SCN4A | c.4183_4185del (p.Ile1395del) | gnomAD v4 |
| 17 | g.63942936A>C | CA400616551 | SCN4A | c.4178T>G (p.Ile1393Ser) | |
| 17 | g.63942936A>G | CA400616552 | SCN4A | c.4178T>C (p.Ile1393Thr) | |
| 17 | g.63942936A>T | CA400616553 | SCN4A | c.4178T>A (p.Ile1393Asn) | gnomAD v4 |
| 17 | g.63942937T>A | CA400616556 | SCN4A | c.4177A>T (p.Ile1393Phe) | |
| 17 | g.63942937T>C | CA400616555 | SCN4A | c.4177A>G (p.Ile1393Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63942937T>G | CA400616554 | SCN4A | c.4177A>C (p.Ile1393Leu) | dbSNP gnomAD v4 |
| 17 | g.63942937T= | CA2270161711 | SCN4A | c.4177A= (p.Ile1393=) | |
| 17 | g.63942938G>A | CA501214857 | SCN4A | c.4176C>T (p.Phe1392=) | |
| 17 | g.63942938G>C | CA400616557 | SCN4A | c.4176C>G (p.Phe1392Leu) | |
| 17 | g.63942938G>T | CA400616558 | SCN4A | c.4176C>A (p.Phe1392Leu) | |
| 17 | g.63942939A= | CA2270161712 | SCN4A | c.4175T= (p.Phe1392=) | |
| 17 | g.63942939A>C | CA400616559 | SCN4A | c.4175T>G (p.Phe1392Cys) | |
| 17 | g.63942939A>G | CA400616560 | SCN4A | c.4175T>C (p.Phe1392Ser) | ClinVar dbSNP |
| 17 | g.63942939A>T | CA400616561 | SCN4A | c.4175T>A (p.Phe1392Tyr) | |
| 17 | g.63942940A>C | CA400616562 | SCN4A | c.4174T>G (p.Phe1392Val) | |
| 17 | g.63942940A>G | CA400616563 | SCN4A | c.4174T>C (p.Phe1392Leu) | gnomAD v4 |
| 17 | g.63942940A>T | CA400616564 | SCN4A | c.4174T>A (p.Phe1392Ile) | |
| 17 | g.63942941G>A | CA501214859 | SCN4A | c.4173C>T (p.Ile1391=) | |
| 17 | g.63942941G>C | CA400616565 | SCN4A | c.4173C>G (p.Ile1391Met) | COSMIC |
| 17 | g.63942941G>T | CA501214860 | SCN4A | c.4173C>A (p.Ile1391=) | |
| 17 | g.63942942A= | CA2270161713 | SCN4A | c.4172T= (p.Ile1391=) | |
| 17 | g.63942942A>C | CA400616566 | SCN4A | c.4172T>G (p.Ile1391Ser) | |
| 17 | g.63942942A>G | CA400616567 | SCN4A | c.4172T>C (p.Ile1391Thr) | gnomAD v4 |
| 17 | g.63942942A>T | CA400616568 | SCN4A | c.4172T>A (p.Ile1391Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63942943T>A | CA400616570 | SCN4A | c.4171A>T (p.Ile1391Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63942943T>C | CA292958196 | SCN4A | c.4171A>G (p.Ile1391Val) | ClinVar dbSNP |
| 17 | g.63942943T>G | CA400616569 | SCN4A | c.4171A>C (p.Ile1391Leu) | |
| 17 | g.63942943T= | CA2270161714 | SCN4A | c.4171A= (p.Ile1391=) | |
| 17 | g.63942944C>A | CA400616571 | SCN4A | c.4170G>T (p.Met1390Ile) | |
| 17 | g.63942944C>G | CA400616572 | SCN4A | c.4170G>C (p.Met1390Ile) | |
| 17 | g.63942944C>T | CA400616573 | SCN4A | c.4170G>A (p.Met1390Ile) | gnomAD v4 |
| 17 | g.63942945A>C | CA400616574 | SCN4A | c.4169T>G (p.Met1390Arg) | ClinVar |
| 17 | g.63942945A>G | CA400616575 | SCN4A | c.4169T>C (p.Met1390Thr) | |
| 17 | g.63942945A>T | CA400616576 | SCN4A | c.4169T>A (p.Met1390Lys) | |
| 17 | g.63942946T>A | CA8709043 | SCN4A | c.4168A>T (p.Met1390Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63942946T>C | CA400616577 | SCN4A | c.4168A>G (p.Met1390Val) | ClinVar dbSNP |
| 17 | g.63942946T>G | CA400616578 | SCN4A | c.4168A>C (p.Met1390Leu) | ClinVar |
| 17 | g.63942946T= | CA2270161715 | SCN4A | c.4168A= (p.Met1390=) | |
| 17 | g.63942947G>A | CA501214861 | SCN4A | c.4167C>T (p.Asn1389=) | ClinVar dbSNP |
| 17 | g.63942947G>C | CA400616579 | SCN4A | c.4167C>G (p.Asn1389Lys) | |
| 17 | g.63942947G= | CA2270161716 | SCN4A | c.4167C= (p.Asn1389=) | |
| 17 | g.63942947G>T | CA400616580 | SCN4A | c.4167C>A (p.Asn1389Lys) | ClinVar dbSNP |
| 17 | g.63942948T>A | CA400616581 | SCN4A | c.4166A>T (p.Asn1389Ile) | |
| 17 | g.63942948T>C | CA400616582 | SCN4A | c.4166A>G (p.Asn1389Ser) | gnomAD v4 |
| 17 | g.63942948T>G | CA400616583 | SCN4A | c.4166A>C (p.Asn1389Thr) | |
| 17 | g.63942949T>A | CA400616584 | SCN4A | c.4165A>T (p.Asn1389Tyr) | |
| 17 | g.63942949T>C | CA400616586 | SCN4A | c.4165A>G (p.Asn1389Asp) | |
| 17 | g.63942949T>G | CA400616585 | SCN4A | c.4165A>C (p.Asn1389His) | gnomAD v4 |
| 17 | g.63942950G>A | CA501214862 | SCN4A | c.4164C>T (p.Ile1388=) |