| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941169A= | CA2270160813 | SCN4A | c.5113T= (p.Phe1705=) | |
| 17 | g.63941169A>C | CA400614000 | SCN4A | c.5113T>G (p.Phe1705Val) | |
| 17 | g.63941169A>G | CA400614003 | SCN4A | c.5113T>C (p.Phe1705Leu) | gnomAD v4 |
| 17 | g.63941169A>T | CA16620553 | SCN4A | c.5113T>A (p.Phe1705Ile) | ClinVar dbSNP |
| 17 | g.63941169_63941172delinsACTT | CA2270160814 | SCN4A | c.5110_5113delinsAAGT (p.Lys1704=) | |
| 17 | g.63941170C>A | CA400614007 | SCN4A | c.5112G>T (p.Lys1704Asn) | |
| 17 | g.63941170C>G | CA400614009 | SCN4A | c.5112G>C (p.Lys1704Asn) | |
| 17 | g.63941170C>T | CA501348371 | SCN4A | c.5112G>A (p.Lys1704=) | |
| 17 | g.63941172_63941174del | CA915950729 | SCN4A | c.5110_5112del (p.Lys1704del) | ClinVar dbSNP |
| 17 | g.63941171T>A | CA400614015 | SCN4A | c.5111A>T (p.Lys1704Met) | |
| 17 | g.63941171T>C | CA400614013 | SCN4A | c.5111A>G (p.Lys1704Arg) | |
| 17 | g.63941171T>G | CA400614011 | SCN4A | c.5111A>C (p.Lys1704Thr) | |
| 17 | g.63941172T>A | CA400614018 | SCN4A | c.5110A>T (p.Lys1704Ter) | dbSNP |
| 17 | g.63941172T>C | CA400614021 | SCN4A | c.5110A>G (p.Lys1704Glu) | |
| 17 | g.63941172T>G | CA400614023 | SCN4A | c.5110A>C (p.Lys1704Gln) | |
| 17 | g.63941172T= | CA2270160815 | SCN4A | c.5110A= (p.Lys1704=) | |
| 17 | g.63941172_63941175delinsTCTC | CA2270160816 | SCN4A | c.5107_5110delinsGAGA (p.Glu1703=) | |
| 17 | g.63941175_63941186del | CA2695226826 | SCN4A | c.5099_5110del (p.Thr1700_Glu1703del) | |
| 17 | g.63941173C>A | CA400614026 | SCN4A | c.5109G>T (p.Glu1703Asp) | |
| 17 | g.63941173C>G | CA400614029 | SCN4A | c.5109G>C (p.Glu1703Asp) | |
| 17 | g.63941173C>T | CA501348375 | SCN4A | c.5109G>A (p.Glu1703=) | |
| 17 | g.63941177_63941179del | CA627150279 | SCN4A | c.5107_5109del (p.Glu1703del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63941174T>A | CA400614032 | SCN4A | c.5108A>T (p.Glu1703Val) | |
| 17 | g.63941174T>C | CA400614034 | SCN4A | c.5108A>G (p.Glu1703Gly) | |
| 17 | g.63941174T>G | CA400614038 | SCN4A | c.5108A>C (p.Glu1703Ala) | |
| 17 | g.63941175C>A | CA400614041 | SCN4A | c.5107G>T (p.Glu1703Ter) | dbSNP |
| 17 | g.63941175C= | CA2270160817 | SCN4A | c.5107G= (p.Glu1703=) | |
| 17 | g.63941175C>G | CA400614044 | SCN4A | c.5107G>C (p.Glu1703Gln) | |
| 17 | g.63941175C>T | CA400614047 | SCN4A | c.5107G>A (p.Glu1703Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941176C>A | CA400614051 | SCN4A | c.5106G>T (p.Glu1702Asp) | |
| 17 | g.63941176C>G | CA400614054 | SCN4A | c.5106G>C (p.Glu1702Asp) | gnomAD v4 |
| 17 | g.63941176C>T | CA501348378 | SCN4A | c.5106G>A (p.Glu1702=) | |
| 17 | g.63941177T>A | CA400614061 | SCN4A | c.5105A>T (p.Glu1702Val) | ClinVar dbSNP |
| 17 | g.63941177T>C | CA400614062 | SCN4A | c.5105A>G (p.Glu1702Gly) | ClinVar dbSNP |
| 17 | g.63941177T>G | CA400614058 | SCN4A | c.5105A>C (p.Glu1702Ala) | |
| 17 | g.63941177T= | CA2270160818 | SCN4A | c.5105A= (p.Glu1702=) | |
| 17 | g.63941178C>A | CA400614065 | SCN4A | c.5104G>T (p.Glu1702Ter) | dbSNP |
| 17 | g.63941178C= | CA2270160819 | SCN4A | c.5104G= (p.Glu1702=) | |
| 17 | g.63941178C>G | CA400614068 | SCN4A | c.5104G>C (p.Glu1702Gln) | |
| 17 | g.63941178C>T | CA400614067 | SCN4A | c.5104G>A (p.Glu1702Lys) | ClinVar dbSNP |
| 17 | g.63941179C>A | CA400614071 | SCN4A | c.5103G>T (p.Met1701Ile) | |
| 17 | g.63941179C>G | CA400614073 | SCN4A | c.5103G>C (p.Met1701Ile) | |
| 17 | g.63941179C>T | CA400614075 | SCN4A | c.5103G>A (p.Met1701Ile) | gnomAD v4 |
| 17 | g.63941180A>C | CA400614077 | SCN4A | c.5102T>G (p.Met1701Arg) | |
| 17 | g.63941180A>G | CA400614078 | SCN4A | c.5102T>C (p.Met1701Thr) | ClinVar dbSNP |
| 17 | g.63941180A>T | CA400614080 | SCN4A | c.5102T>A (p.Met1701Lys) | |
| 17 | g.63941181T>A | CA400614083 | SCN4A | c.5101A>T (p.Met1701Leu) | |
| 17 | g.63941181T>C | CA400614084 | SCN4A | c.5101A>G (p.Met1701Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63941181T>G | CA400614086 | SCN4A | c.5101A>C (p.Met1701Leu) | |
| 17 | g.63941181T= | CA2270160820 | SCN4A | c.5101A= (p.Met1701=) |