Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63945411G>A | CA501348621 | SCN4A | c.3669C>T (p.Val1223=) | |
17 | g.63945411G>C | CA501348622 | SCN4A | c.3669C>G (p.Val1223=) | |
17 | g.63945411G>T | CA501348623 | SCN4A | c.3669C>A (p.Val1223=) | |
17 | g.63945412A>C | CA400617785 | SCN4A | c.3668T>G (p.Val1223Gly) | |
17 | g.63945412A>G | CA400617787 | SCN4A | c.3668T>C (p.Val1223Ala) | |
17 | g.63945412A>T | CA400617786 | SCN4A | c.3668T>A (p.Val1223Asp) | |
17 | g.63945413C>A | CA400617788 | SCN4A | c.3667G>T (p.Val1223Phe) | |
17 | g.63945413C= | CA2270162535 | SCN4A | c.3667G= (p.Val1223=) | |
17 | g.63945413C>G | CA400617789 | SCN4A | c.3667G>C (p.Val1223Leu) | |
17 | g.63945413C>T | CA8709212 | SCN4A | c.3667G>A (p.Val1223Ile) | dbSNP ExAC gnomAD v2 |
17 | g.63945414A>C | CA400617790 | SCN4A | c.3666T>G (p.Asn1222Lys) | gnomAD v4 |
17 | g.63945414A>G | CA501348624 | SCN4A | c.3666T>C (p.Asn1222=) | |
17 | g.63945414A>T | CA400617791 | SCN4A | c.3666T>A (p.Asn1222Lys) | |
17 | g.63945415T>A | CA400617792 | SCN4A | c.3665A>T (p.Asn1222Ile) | |
17 | g.63945415T>C | CA400617793 | SCN4A | c.3665A>G (p.Asn1222Ser) | |
17 | g.63945415T>G | CA400617794 | SCN4A | c.3665A>C (p.Asn1222Thr) | |
17 | g.63945416dup | CA2576355620 | SCN4A | c.3665dup (p.Asn1222LysfsTer?) | |
17 | g.63945416T>A | CA400617795 | SCN4A | c.3664A>T (p.Asn1222Tyr) | |
17 | g.63945416T>C | CA400617796 | SCN4A | c.3664A>G (p.Asn1222Asp) | |
17 | g.63945416T>G | CA400617797 | SCN4A | c.3664A>C (p.Asn1222His) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945416T= | CA2270162537 | SCN4A | c.3664A= (p.Asn1222=) | |
17 | g.63945417G>A | CA501348625 | SCN4A | c.3663C>T (p.Leu1221=) | |
17 | g.63945417G>C | CA501348626 | SCN4A | c.3663C>G (p.Leu1221=) | gnomAD v4 |
17 | g.63945417G>T | CA501348627 | SCN4A | c.3663C>A (p.Leu1221=) | |
17 | g.63945418A= | CA2270162543 | SCN4A | c.3662T= (p.Leu1221=) | |
17 | g.63945418A>C | CA400617800 | SCN4A | c.3662T>G (p.Leu1221Arg) | dbSNP |
17 | g.63945418A>G | CA400617799 | SCN4A | c.3662T>C (p.Leu1221Pro) | |
17 | g.63945418A>T | CA400617798 | SCN4A | c.3662T>A (p.Leu1221His) | |
17 | g.63945419G>A | CA400617801 | SCN4A | c.3661C>T (p.Leu1221Phe) | |
17 | g.63945419G>C | CA400617802 | SCN4A | c.3661C>G (p.Leu1221Val) | |
17 | g.63945419G>T | CA400617803 | SCN4A | c.3661C>A (p.Leu1221Ile) | |
17 | g.63945420C>A | CA400617804 | SCN4A | c.3660G>T (p.Trp1220Cys) | |
17 | g.63945420C= | CA2270162545 | SCN4A | c.3660G= (p.Trp1220=) | |
17 | g.63945420C>G | CA400617805 | SCN4A | c.3660G>C (p.Trp1220Cys) | |
17 | g.63945420C>T | CA400617806 | SCN4A | c.3660G>A (p.Trp1220Ter) | dbSNP |
17 | g.63945421C>A | CA400617807 | SCN4A | c.3659G>T (p.Trp1220Leu) | |
17 | g.63945421C>G | CA400617808 | SCN4A | c.3659G>C (p.Trp1220Ser) | |
17 | g.63945421C>T | CA400617809 | SCN4A | c.3659G>A (p.Trp1220Ter) | |
17 | g.63945422A>C | CA400617810 | SCN4A | c.3658T>G (p.Trp1220Gly) | |
17 | g.63945422A>G | CA400617811 | SCN4A | c.3658T>C (p.Trp1220Arg) | |
17 | g.63945422A>T | CA400617812 | SCN4A | c.3658T>A (p.Trp1220Arg) | |
17 | g.63945423G>A | CA501348628 | SCN4A | c.3657C>T (p.Arg1219=) | ClinVar dbSNP gnomAD v4 |
17 | g.63945423G>C | CA501348629 | SCN4A | c.3657C>G (p.Arg1219=) | gnomAD v4 |
17 | g.63945423G= | CA2270162548 | SCN4A | c.3657C= (p.Arg1219=) | |
17 | g.63945423G>T | CA501348630 | SCN4A | c.3657C>A (p.Arg1219=) | |
17 | g.63945424C>A | CA400617815 | SCN4A | c.3656G>T (p.Arg1219Leu) | |
17 | g.63945424C= | CA2270162552 | SCN4A | c.3656G= (p.Arg1219=) | |
17 | g.63945424C>G | CA400617814 | SCN4A | c.3656G>C (p.Arg1219Pro) | |
17 | g.63945424C>T | CA400617813 | SCN4A | c.3656G>A (p.Arg1219His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63945425G>A | CA8709213 | SCN4A | c.3655C>T (p.Arg1219Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |