Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63968215_63968223del | CA2639323194 | SCN4A | c.836_844del (p.Lys279_Arg282delinsSer) | gnomAD v4 |
17 | g.63968221_63968222del | CA8710025 | SCN4A | c.842_843del (p.Val281AlafsTer17) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63968222C>A | CA400637592 | SCN4A | c.837G>T (p.Lys279Asn) | |
17 | g.63968222C= | CA2270173936 | SCN4A | c.837G= (p.Lys279=) | |
17 | g.63968222C>G | CA8710029 | SCN4A | c.837G>C (p.Lys279Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63968222C>T | CA8710028 | SCN4A | c.837G>A (p.Lys279=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.63968223T>A | CA400637593 | SCN4A | c.836A>T (p.Lys279Met) | |
17 | g.63968223T>C | CA400637594 | SCN4A | c.836A>G (p.Lys279Arg) | |
17 | g.63968223T>G | CA400637595 | SCN4A | c.836A>C (p.Lys279Thr) | |
17 | g.63968224T>A | CA400637596 | SCN4A | c.835A>T (p.Lys279Ter) | |
17 | g.63968224T>C | CA400637597 | SCN4A | c.835A>G (p.Lys279Glu) | |
17 | g.63968224T>G | CA400637598 | SCN4A | c.835A>C (p.Lys279Gln) | |
17 | g.63968225C>A | CA400637599 | SCN4A | c.834G>T (p.Gln278His) | |
17 | g.63968225C>G | CA400637600 | SCN4A | c.834G>C (p.Gln278His) | |
17 | g.63968225C>T | CA501348889 | SCN4A | c.834G>A (p.Gln278=) | ClinVar COSMIC |
17 | g.63968226T>A | CA400637601 | SCN4A | c.833A>T (p.Gln278Leu) | |
17 | g.63968226T>C | CA400637602 | SCN4A | c.833A>G (p.Gln278Arg) | dbSNP |
17 | g.63968226T>G | CA400637603 | SCN4A | c.833A>C (p.Gln278Pro) | |
17 | g.63968226T= | CA2270173937 | SCN4A | c.833A= (p.Gln278=) | |
17 | g.63968227_63968236del | CA2639323244 | SCN4A | c.824_833del (p.Asn275ArgfsTer?) | gnomAD v4 |
17 | g.63968227G>A | CA400637604 | SCN4A | c.832C>T (p.Gln278Ter) | |
17 | g.63968227G>C | CA400637605 | SCN4A | c.832C>G (p.Gln278Glu) | |
17 | g.63968227G>T | CA400637606 | SCN4A | c.832C>A (p.Gln278Lys) | |
17 | g.63968228C>A | CA400637608 | SCN4A | c.831G>T (p.Arg277Ser) | |
17 | g.63968228C>G | CA400637607 | SCN4A | c.831G>C (p.Arg277Ser) | |
17 | g.63968228C>T | CA501348890 | SCN4A | c.831G>A (p.Arg277=) | |
17 | g.63968229C>A | CA400637609 | SCN4A | c.830G>T (p.Arg277Met) | |
17 | g.63968229C= | CA2270173938 | SCN4A | c.830G= (p.Arg277=) | |
17 | g.63968229C>G | CA400637610 | SCN4A | c.830G>C (p.Arg277Thr) | |
17 | g.63968229C>T | CA400637611 | SCN4A | c.830G>A (p.Arg277Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63968230T>A | CA400637612 | SCN4A | c.829A>T (p.Arg277Trp) | |
17 | g.63968230T>C | CA400637613 | SCN4A | c.829A>G (p.Arg277Gly) | |
17 | g.63968230T>G | CA501348891 | SCN4A | c.829A>C (p.Arg277=) | |
17 | g.63968231C>A | CA501348892 | SCN4A | c.828G>T (p.Leu276=) | |
17 | g.63968231C= | CA2270173939 | SCN4A | c.828G= (p.Leu276=) | |
17 | g.63968231C>G | CA501348893 | SCN4A | c.828G>C (p.Leu276=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63968231C>T | CA501348894 | SCN4A | c.828G>A (p.Leu276=) | COSMIC |
17 | g.63968232A= | CA2270173940 | SCN4A | c.827T= (p.Leu276=) | |
17 | g.63968232A>C | CA400637614 | SCN4A | c.827T>G (p.Leu276Arg) | |
17 | g.63968232A>G | CA400637615 | SCN4A | c.827T>C (p.Leu276Pro) | |
17 | g.63968232A>T | CA400637616 | SCN4A | c.827T>A (p.Leu276Gln) | dbSNP |
17 | g.63968233G>A | CA501348895 | SCN4A | c.826C>T (p.Leu276=) | gnomAD v4 |
17 | g.63968233G>C | CA400637617 | SCN4A | c.826C>G (p.Leu276Val) | |
17 | g.63968233G>T | CA400637618 | SCN4A | c.826C>A (p.Leu276Met) | gnomAD v4 |
17 | g.63968234G>A | CA8710030 | SCN4A | c.825C>T (p.Asn275=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63968234G>C | CA400637619 | SCN4A | c.825C>G (p.Asn275Lys) | dbSNP |
17 | g.63968234G= | CA2270173941 | SCN4A | c.825C= (p.Asn275=) | |
17 | g.63968234G>T | CA400637620 | SCN4A | c.825C>A (p.Asn275Lys) | ClinVar dbSNP |
17 | g.63968235T>A | CA400637621 | SCN4A | c.824A>T (p.Asn275Ile) | |
17 | g.63968235T>C | CA400637623 | SCN4A | c.824A>G (p.Asn275Ser) |