| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941840G>A | CA8708961 | SCN4A | c.4442C>T (p.Ala1481Val) | dbSNP ExAC gnomAD v2 |
| 17 | g.63941840G>C | CA400616015 | SCN4A | c.4442C>G (p.Ala1481Gly) | |
| 17 | g.63941840G= | CA2270161128 | SCN4A | c.4442C= (p.Ala1481=) | |
| 17 | g.63941840G>T | CA400616016 | SCN4A | c.4442C>A (p.Ala1481Asp) | ClinVar dbSNP |
| 17 | g.63941841C>A | CA400616017 | SCN4A | c.4441G>T (p.Ala1481Ser) | |
| 17 | g.63941841C= | CA2270161129 | SCN4A | c.4441G= (p.Ala1481=) | |
| 17 | g.63941841C>G | CA400616018 | SCN4A | c.4441G>C (p.Ala1481Pro) | |
| 17 | g.63941841C>T | CA400616019 | SCN4A | c.4441G>A (p.Ala1481Thr) | |
| 17 | g.63941841_63941842insTTTG | CA8708962 | SCN4A | c.4440_4441insCAAA (p.Ala1481GlnfsTer?) | dbSNP ExAC gnomAD v2 |
| 17 | g.63941842A= | CA2270161130 | SCN4A | c.4440T= (p.Pro1480=) | |
| 17 | g.63941842A>C | CA501348335 | SCN4A | c.4440T>G (p.Pro1480=) | dbSNP |
| 17 | g.63941842A>G | CA501348336 | SCN4A | c.4440T>C (p.Pro1480=) | dbSNP |
| 17 | g.63941842A>T | CA501348338 | SCN4A | c.4440T>A (p.Pro1480=) | |
| 17 | g.63941843G>A | CA400616020 | SCN4A | c.4439C>T (p.Pro1480Leu) | |
| 17 | g.63941843G>C | CA400616021 | SCN4A | c.4439C>G (p.Pro1480Arg) | |
| 17 | g.63941843G= | CA2270161131 | SCN4A | c.4439C= (p.Pro1480=) | |
| 17 | g.63941843G>T | CA400616022 | SCN4A | c.4439C>A (p.Pro1480His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63941844G>A | CA400616025 | SCN4A | c.4438C>T (p.Pro1480Ser) | |
| 17 | g.63941844G>C | CA400616024 | SCN4A | c.4438C>G (p.Pro1480Ala) | |
| 17 | g.63941844G>T | CA400616023 | SCN4A | c.4438C>A (p.Pro1480Thr) | |
| 17 | g.63941845C>A | CA501348343 | SCN4A | c.4437G>T (p.Leu1479=) | |
| 17 | g.63941845C>G | CA501348345 | SCN4A | c.4437G>C (p.Leu1479=) | |
| 17 | g.63941845C>T | CA501348346 | SCN4A | c.4437G>A (p.Leu1479=) | |
| 17 | g.63941846A>C | CA400616026 | SCN4A | c.4436T>G (p.Leu1479Arg) | |
| 17 | g.63941846A>G | CA400616027 | SCN4A | c.4436T>C (p.Leu1479Pro) | |
| 17 | g.63941846A>T | CA400616028 | SCN4A | c.4436T>A (p.Leu1479Gln) | |
| 17 | g.63941847G>A | CA501348347 | SCN4A | c.4435C>T (p.Leu1479=) | |
| 17 | g.63941847G>C | CA400616029 | SCN4A | c.4435C>G (p.Leu1479Val) | |
| 17 | g.63941847G>T | CA400616030 | SCN4A | c.4435C>A (p.Leu1479Met) | ClinVar gnomAD v4 |
| 17 | g.63941848C>A | CA501348348 | SCN4A | c.4434G>T (p.Ser1478=) | gnomAD v4 |
| 17 | g.63941848C= | CA2270161132 | SCN4A | c.4434G= (p.Ser1478=) | |
| 17 | g.63941848C>G | CA292957219 | SCN4A | c.4434G>C (p.Ser1478=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63941848C>T | CA242396 | SCN4A | c.4434G>A (p.Ser1478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941849G>A | CA8708963 | SCN4A | c.4433C>T (p.Ser1478Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63941849G>C | CA400616031 | SCN4A | c.4433C>G (p.Ser1478Trp) | |
| 17 | g.63941849G= | CA2270161133 | SCN4A | c.4433C= (p.Ser1478=) | |
| 17 | g.63941849G>T | CA400616032 | SCN4A | c.4433C>A (p.Ser1478Ter) | dbSNP |
| 17 | g.63941850A= | CA2270161134 | SCN4A | c.4432T= (p.Ser1478=) | |
| 17 | g.63941850A>C | CA400616033 | SCN4A | c.4432T>G (p.Ser1478Ala) | |
| 17 | g.63941850A>G | CA400616034 | SCN4A | c.4432T>C (p.Ser1478Pro) | dbSNP gnomAD v4 |
| 17 | g.63941850A>T | CA400616035 | SCN4A | c.4432T>A (p.Ser1478Thr) | |
| 17 | g.63941851C>A | CA400616038 | SCN4A | c.4431G>T (p.Met1477Ile) | |
| 17 | g.63941851C>G | CA400616037 | SCN4A | c.4431G>C (p.Met1477Ile) | |
| 17 | g.63941851C>T | CA400616036 | SCN4A | c.4431G>A (p.Met1477Ile) | gnomAD v4 |
| 17 | g.63941852A>C | CA400616039 | SCN4A | c.4430T>G (p.Met1477Arg) | |
| 17 | g.63941852A>G | CA400616040 | SCN4A | c.4430T>C (p.Met1477Thr) | ClinVar dbSNP |
| 17 | g.63941852A>T | CA400616041 | SCN4A | c.4430T>A (p.Met1477Lys) | |
| 17 | g.63941853T>A | CA400616042 | SCN4A | c.4429A>T (p.Met1477Leu) | gnomAD v4 |
| 17 | g.63941853T>C | CA400616043 | SCN4A | c.4429A>G (p.Met1477Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941853T>G | CA400616044 | SCN4A | c.4429A>C (p.Met1477Leu) |