| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941857G>A | CA501348438 | SCN4A | c.4425C>T (p.Leu1475=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941857G>C | CA501348440 | SCN4A | c.4425C>G (p.Leu1475=) | |
| 17 | g.63941857G= | CA2270161139 | SCN4A | c.4425C= (p.Leu1475=) | |
| 17 | g.63941857G>T | CA501348439 | SCN4A | c.4425C>A (p.Leu1475=) | |
| 17 | g.63941858A>C | CA400616052 | SCN4A | c.4424T>G (p.Leu1475Arg) | |
| 17 | g.63941858A>G | CA400616054 | SCN4A | c.4424T>C (p.Leu1475Pro) | ClinVar |
| 17 | g.63941858A>T | CA400616053 | SCN4A | c.4424T>A (p.Leu1475His) | |
| 17 | g.63941859G>A | CA400616055 | SCN4A | c.4423C>T (p.Leu1475Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63941859G>C | CA400616056 | SCN4A | c.4423C>G (p.Leu1475Val) | |
| 17 | g.63941859G= | CA2270161140 | SCN4A | c.4423C= (p.Leu1475=) | |
| 17 | g.63941859G>T | CA400616057 | SCN4A | c.4423C>A (p.Leu1475Ile) | |
| 17 | g.63941860G>A | CA501348441 | SCN4A | c.4422C>T (p.Ala1474=) | gnomAD v4 |
| 17 | g.63941860G>C | CA501348442 | SCN4A | c.4422C>G (p.Ala1474=) | |
| 17 | g.63941860G>T | CA501348443 | SCN4A | c.4422C>A (p.Ala1474=) | |
| 17 | g.63941861G>A | CA400616058 | SCN4A | c.4421C>T (p.Ala1474Val) | |
| 17 | g.63941861G>C | CA400616059 | SCN4A | c.4421C>G (p.Ala1474Gly) | |
| 17 | g.63941861G>T | CA400616060 | SCN4A | c.4421C>A (p.Ala1474Asp) | |
| 17 | g.63941862C>A | CA400616061 | SCN4A | c.4420G>T (p.Ala1474Ser) | gnomAD v4 |
| 17 | g.63941862C= | CA2270161141 | SCN4A | c.4420G= (p.Ala1474=) | |
| 17 | g.63941862C>G | CA400616062 | SCN4A | c.4420G>C (p.Ala1474Pro) | |
| 17 | g.63941862C>T | CA8708964 | SCN4A | c.4420G>A (p.Ala1474Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941863del | CA2639307363 | SCN4A | c.4419del (p.Phe1473LeufsTer4) | gnomAD v4 |
| 17 | g.63941863G>A | CA8708965 | SCN4A | c.4419C>T (p.Phe1473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63941863G>C | CA400616063 | SCN4A | c.4419C>G (p.Phe1473Leu) | |
| 17 | g.63941863G= | CA2270161142 | SCN4A | c.4419C= (p.Phe1473=) | |
| 17 | g.63941863G>T | CA400616064 | SCN4A | c.4419C>A (p.Phe1473Leu) | |
| 17 | g.63941864A>C | CA400616067 | SCN4A | c.4418T>G (p.Phe1473Cys) | |
| 17 | g.63941864A>G | CA400616065 | SCN4A | c.4418T>C (p.Phe1473Ser) | ClinVar |
| 17 | g.63941864A>T | CA400616066 | SCN4A | c.4418T>A (p.Phe1473Tyr) | |
| 17 | g.63941865A>C | CA400616068 | SCN4A | c.4417T>G (p.Phe1473Val) | |
| 17 | g.63941865A>G | CA400616069 | SCN4A | c.4417T>C (p.Phe1473Leu) | |
| 17 | g.63941865A>T | CA400616070 | SCN4A | c.4417T>A (p.Phe1473Ile) | |
| 17 | g.63941866C>A | CA501348445 | SCN4A | c.4416G>T (p.Leu1472=) | |
| 17 | g.63941866C= | CA2270161143 | SCN4A | c.4416G= (p.Leu1472=) | |
| 17 | g.63941866C>G | CA501348446 | SCN4A | c.4416G>C (p.Leu1472=) | |
| 17 | g.63941866C>T | CA8708966 | SCN4A | c.4416G>A (p.Leu1472=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63941867A= | CA2270161144 | SCN4A | c.4415T= (p.Leu1472=) | |
| 17 | g.63941867A>C | CA400616071 | SCN4A | c.4415T>G (p.Leu1472Arg) | |
| 17 | g.63941867A>G | CA16603311 | SCN4A | c.4415T>C (p.Leu1472Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63941867A>T | CA400616072 | SCN4A | c.4415T>A (p.Leu1472Gln) | |
| 17 | g.63941868G>A | CA501348448 | SCN4A | c.4414C>T (p.Leu1472=) | gnomAD v4 |
| 17 | g.63941868G>C | CA400616073 | SCN4A | c.4414C>G (p.Leu1472Val) | |
| 17 | g.63941868G= | CA2270161145 | SCN4A | c.4414C= (p.Leu1472=) | |
| 17 | g.63941868G>T | CA400616074 | SCN4A | c.4414C>A (p.Leu1472Met) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63941869C>A | CA501348449 | SCN4A | c.4413G>T (p.Leu1471=) | |
| 17 | g.63941869C>G | CA501348450 | SCN4A | c.4413G>C (p.Leu1471=) | |
| 17 | g.63941869C>T | CA501348451 | SCN4A | c.4413G>A (p.Leu1471=) | |
| 17 | g.63941870A>C | CA400616075 | SCN4A | c.4412T>G (p.Leu1471Arg) | |
| 17 | g.63941870A>G | CA400616076 | SCN4A | c.4412T>C (p.Leu1471Pro) | |
| 17 | g.63941870A>T | CA400616077 | SCN4A | c.4412T>A (p.Leu1471Gln) | gnomAD v4 |