| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941799T>A | CA341679 | SCN4A | c.4483A>T (p.Ile1495Phe) | dbSNP |
| 17 | g.63941799T>C | CA400615928 | SCN4A | c.4483A>G (p.Ile1495Val) | |
| 17 | g.63941799T>G | CA400615929 | SCN4A | c.4483A>C (p.Ile1495Leu) | |
| 17 | g.63941799T= | CA2270161107 | SCN4A | c.4483A= (p.Ile1495=) | |
| 17 | g.63941800G>A | CA501348258 | SCN4A | c.4482C>T (p.Phe1494=) | gnomAD v4 |
| 17 | g.63941800G>C | CA400615930 | SCN4A | c.4482C>G (p.Phe1494Leu) | gnomAD v4 |
| 17 | g.63941800G>T | CA400615931 | SCN4A | c.4482C>A (p.Phe1494Leu) | |
| 17 | g.63941801A= | CA2270161108 | SCN4A | c.4481T= (p.Phe1494=) | |
| 17 | g.63941801A>C | CA400615932 | SCN4A | c.4481T>G (p.Phe1494Cys) | |
| 17 | g.63941801A>G | CA400615933 | SCN4A | c.4481T>C (p.Phe1494Ser) | |
| 17 | g.63941801A>T | CA400615934 | SCN4A | c.4481T>A (p.Phe1494Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63941802A>C | CA400615935 | SCN4A | c.4480T>G (p.Phe1494Val) | |
| 17 | g.63941802A>G | CA400615936 | SCN4A | c.4480T>C (p.Phe1494Leu) | |
| 17 | g.63941802A>T | CA400615937 | SCN4A | c.4480T>A (p.Phe1494Ile) | gnomAD v4 |
| 17 | g.63941803C>A | CA400615938 | SCN4A | c.4479G>T (p.Met1493Ile) | |
| 17 | g.63941803C= | CA2270161109 | SCN4A | c.4479G= (p.Met1493=) | |
| 17 | g.63941803C>G | CA400615939 | SCN4A | c.4479G>C (p.Met1493Ile) | |
| 17 | g.63941803C>T | CA341677 | SCN4A | c.4479G>A (p.Met1493Ile) | dbSNP gnomAD v4 |
| 17 | g.[63941803C>T;63941814A>G] | CA645373129 | SCN4A | c.[4468T>C;4479G>A] (p.[Phe1490Leu;Met1493Ile]) | ClinVar |
| 17 | g.63941803_63941814delinsTATGACCAGGAG | CA2695226829 | SCN4A | c.4468_4479delinsCTCCTGGTCATA (p.Phe1490_Met1493delinsLeuLeuValIle) | |
| 17 | g.63941804A>C | CA400615942 | SCN4A | c.4478T>G (p.Met1493Arg) | |
| 17 | g.63941804A>G | CA400615941 | SCN4A | c.4478T>C (p.Met1493Thr) | gnomAD v4 |
| 17 | g.63941804A>T | CA400615940 | SCN4A | c.4478T>A (p.Met1493Lys) | |
| 17 | g.63941805T>A | CA400615943 | SCN4A | c.4477A>T (p.Met1493Leu) | gnomAD v4 |
| 17 | g.63941805T>C | CA400615945 | SCN4A | c.4477A>G (p.Met1493Val) | ClinVar dbSNP |
| 17 | g.63941805T>G | CA400615944 | SCN4A | c.4477A>C (p.Met1493Leu) | |
| 17 | g.63941805T= | CA2270161110 | SCN4A | c.4477A= (p.Met1493=) | |
| 17 | g.63941806G>A | CA501348267 | SCN4A | c.4476C>T (p.Val1492=) | gnomAD v4 |
| 17 | g.63941806G>C | CA501348268 | SCN4A | c.4476C>G (p.Val1492=) | |
| 17 | g.63941806G>T | CA501348270 | SCN4A | c.4476C>A (p.Val1492=) | |
| 17 | g.63941807A>C | CA400615946 | SCN4A | c.4475T>G (p.Val1492Gly) | |
| 17 | g.63941807A>G | CA400615947 | SCN4A | c.4475T>C (p.Val1492Ala) | |
| 17 | g.63941807A>T | CA400615948 | SCN4A | c.4475T>A (p.Val1492Asp) | |
| 17 | g.63941808C>A | CA400615949 | SCN4A | c.4474G>T (p.Val1492Phe) | |
| 17 | g.63941808C>G | CA400615950 | SCN4A | c.4474G>C (p.Val1492Leu) | |
| 17 | g.63941808C>T | CA400615951 | SCN4A | c.4474G>A (p.Val1492Ile) | gnomAD v4 |
| 17 | g.63941809C>A | CA501348272 | SCN4A | c.4473G>T (p.Leu1491=) | |
| 17 | g.63941809C= | CA2270161111 | SCN4A | c.4473G= (p.Leu1491=) | |
| 17 | g.63941809C>G | CA292957151 | SCN4A | c.4473G>C (p.Leu1491=) | dbSNP gnomAD v4 |
| 17 | g.63941809C>T | CA501348273 | SCN4A | c.4473G>A (p.Leu1491=) | |
| 17 | g.63941810del | CA2580094696 | SCN4A | c.4472del (p.Leu1491ArgfsTer?) | ClinVar |
| 17 | g.63941810A>C | CA400615952 | SCN4A | c.4472T>G (p.Leu1491Arg) | gnomAD v4 |
| 17 | g.63941810A>G | CA400615953 | SCN4A | c.4472T>C (p.Leu1491Pro) | |
| 17 | g.63941810A>T | CA400615954 | SCN4A | c.4472T>A (p.Leu1491Gln) | |
| 17 | g.63941811G>A | CA501348278 | SCN4A | c.4471C>T (p.Leu1491=) | |
| 17 | g.63941811G>C | CA400615955 | SCN4A | c.4471C>G (p.Leu1491Val) | gnomAD v4 |
| 17 | g.63941811G= | CA2270161112 | SCN4A | c.4471C= (p.Leu1491=) | |
| 17 | g.63941811G>T | CA400615956 | SCN4A | c.4471C>A (p.Leu1491Met) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63941812G>A | CA501348279 | SCN4A | c.4470C>T (p.Phe1490=) | |
| 17 | g.63941812G>C | CA400615957 | SCN4A | c.4470C>G (p.Phe1490Leu) |