| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941640_63941652delinsTGTTGAGGATGGG | CA2270161033 | SCN4A | c.4630_4642delinsCCCATCCTCAACA (p.Pro1544=) | |
| 17 | g.63941649_63941660del | CA8708927 | SCN4A | c.4630_4641del (p.Pro1544_Asn1547del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.63941643T>A | CA400615582 | SCN4A | c.4639A>T (p.Asn1547Tyr) | |
| 17 | g.63941643T>C | CA400615583 | SCN4A | c.4639A>G (p.Asn1547Asp) | |
| 17 | g.63941643T>G | CA8708928 | SCN4A | c.4639A>C (p.Asn1547His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63941643T= | CA2270161035 | SCN4A | c.4639A= (p.Asn1547=) | |
| 17 | g.63941644G>A | CA501348307 | SCN4A | c.4638C>T (p.Leu1546=) | |
| 17 | g.63941644G>C | CA501348308 | SCN4A | c.4638C>G (p.Leu1546=) | |
| 17 | g.63941644G>T | CA501348309 | SCN4A | c.4638C>A (p.Leu1546=) | |
| 17 | g.63941645A>C | CA400615584 | SCN4A | c.4637T>G (p.Leu1546Arg) | |
| 17 | g.63941645A>G | CA400615585 | SCN4A | c.4637T>C (p.Leu1546Pro) | |
| 17 | g.63941645A>T | CA400615586 | SCN4A | c.4637T>A (p.Leu1546His) | |
| 17 | g.63941646G>A | CA400615587 | SCN4A | c.4636C>T (p.Leu1546Phe) | gnomAD v4 |
| 17 | g.63941646G>C | CA400615588 | SCN4A | c.4636C>G (p.Leu1546Val) | |
| 17 | g.63941646G>T | CA400615589 | SCN4A | c.4636C>A (p.Leu1546Ile) | |
| 17 | g.63941647G>A | CA501348310 | SCN4A | c.4635C>T (p.Ile1545=) | gnomAD v4 |
| 17 | g.63941647G>C | CA400615590 | SCN4A | c.4635C>G (p.Ile1545Met) | |
| 17 | g.63941647G>T | CA501348312 | SCN4A | c.4635C>A (p.Ile1545=) | |
| 17 | g.63941648A>C | CA400615591 | SCN4A | c.4634T>G (p.Ile1545Ser) | |
| 17 | g.63941648A>G | CA400615592 | SCN4A | c.4634T>C (p.Ile1545Thr) | |
| 17 | g.63941648A>T | CA400615593 | SCN4A | c.4634T>A (p.Ile1545Asn) | |
| 17 | g.63941649T>A | CA400615594 | SCN4A | c.4633A>T (p.Ile1545Phe) | |
| 17 | g.63941649T>C | CA8708929 | SCN4A | c.4633A>G (p.Ile1545Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941649T>G | CA400615595 | SCN4A | c.4633A>C (p.Ile1545Leu) | dbSNP |
| 17 | g.63941649T= | CA2270161036 | SCN4A | c.4633A= (p.Ile1545=) | |
| 17 | g.63941650G>A | CA501348315 | SCN4A | c.4632C>T (p.Pro1544=) | |
| 17 | g.63941650G>C | CA501348314 | SCN4A | c.4632C>G (p.Pro1544=) | |
| 17 | g.63941650G>T | CA501348313 | SCN4A | c.4632C>A (p.Pro1544=) | |
| 17 | g.63941651G>A | CA400615598 | SCN4A | c.4631C>T (p.Pro1544Leu) | |
| 17 | g.63941651G>C | CA400615597 | SCN4A | c.4631C>G (p.Pro1544Arg) | dbSNP |
| 17 | g.63941651G= | CA2270161037 | SCN4A | c.4631C= (p.Pro1544=) | |
| 17 | g.63941651G>T | CA400615596 | SCN4A | c.4631C>A (p.Pro1544His) | |
| 17 | g.63941652G>A | CA400615599 | SCN4A | c.4630C>T (p.Pro1544Ser) | |
| 17 | g.63941652G>C | CA400615600 | SCN4A | c.4630C>G (p.Pro1544Ala) | |
| 17 | g.63941652G>T | CA400615601 | SCN4A | c.4630C>A (p.Pro1544Thr) | |
| 17 | g.63941653G>A | CA292956972 | SCN4A | c.4629C>T (p.Asn1543=) | dbSNP |
| 17 | g.63941653G>C | CA400615602 | SCN4A | c.4629C>G (p.Asn1543Lys) | |
| 17 | g.63941653G= | CA2270161038 | SCN4A | c.4629C= (p.Asn1543=) | |
| 17 | g.63941653G>T | CA292956974 | SCN4A | c.4629C>A (p.Asn1543Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941654T>A | CA400615603 | SCN4A | c.4628A>T (p.Asn1543Ile) | |
| 17 | g.63941654T>C | CA400615604 | SCN4A | c.4628A>G (p.Asn1543Ser) | |
| 17 | g.63941654T>G | CA400615605 | SCN4A | c.4628A>C (p.Asn1543Thr) | dbSNP |
| 17 | g.63941654T= | CA2270161039 | SCN4A | c.4628A= (p.Asn1543=) | |
| 17 | g.63941655T>A | CA400615606 | SCN4A | c.4627A>T (p.Asn1543Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63941655T>C | CA400615608 | SCN4A | c.4627A>G (p.Asn1543Asp) | gnomAD v4 |
| 17 | g.63941655T>G | CA400615607 | SCN4A | c.4627A>C (p.Asn1543His) | |
| 17 | g.63941655T= | CA2270161040 | SCN4A | c.4627A= (p.Asn1543=) | |
| 17 | g.63941656G>A | CA8708930 | SCN4A | c.4626C>T (p.Leu1542=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941656G>C | CA501348327 | SCN4A | c.4626C>G (p.Leu1542=) | |
| 17 | g.63941656G= | CA2270161041 | SCN4A | c.4626C= (p.Leu1542=) |