| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941743G>A | CA292957099 | SCN4A | c.4539C>T (p.Ile1513=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63941743G>C | CA292957092 | SCN4A | c.4539C>G (p.Ile1513Met) | dbSNP |
| 17 | g.63941743G= | CA2270161083 | SCN4A | c.4539C= (p.Ile1513=) | |
| 17 | g.63941743G>T | CA146049 | SCN4A | c.4539C>A (p.Ile1513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941744A= | CA2270161084 | SCN4A | c.4538T= (p.Ile1513=) | |
| 17 | g.63941744A>C | CA400615801 | SCN4A | c.4538T>G (p.Ile1513Ser) | |
| 17 | g.63941744A>G | CA400615802 | SCN4A | c.4538T>C (p.Ile1513Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941744A>T | CA400615803 | SCN4A | c.4538T>A (p.Ile1513Asn) | |
| 17 | g.63941745T>A | CA400615804 | SCN4A | c.4537A>T (p.Ile1513Phe) | |
| 17 | g.63941745T>C | CA400615805 | SCN4A | c.4537A>G (p.Ile1513Val) | gnomAD v4 |
| 17 | g.63941745T>G | CA400615806 | SCN4A | c.4537A>C (p.Ile1513Leu) | |
| 17 | g.63941746G>A | CA501348201 | SCN4A | c.4536C>T (p.Gly1512=) | |
| 17 | g.63941746G>C | CA501348203 | SCN4A | c.4536C>G (p.Gly1512=) | |
| 17 | g.63941746G>T | CA501348204 | SCN4A | c.4536C>A (p.Gly1512=) | |
| 17 | g.63941747C>A | CA400615809 | SCN4A | c.4535G>T (p.Gly1512Val) | |
| 17 | g.63941747C>G | CA400615807 | SCN4A | c.4535G>C (p.Gly1512Ala) | |
| 17 | g.63941747C>T | CA400615808 | SCN4A | c.4535G>A (p.Gly1512Asp) | COSMIC |
| 17 | g.63941748C>A | CA400615810 | SCN4A | c.4534G>T (p.Gly1512Cys) | |
| 17 | g.63941748C= | CA2270161085 | SCN4A | c.4534G= (p.Gly1512=) | |
| 17 | g.63941748C>G | CA400615811 | SCN4A | c.4534G>C (p.Gly1512Arg) | |
| 17 | g.63941748C>T | CA400615812 | SCN4A | c.4534G>A (p.Gly1512Ser) | dbSNP |
| 17 | g.63941749C>A | CA501348205 | SCN4A | c.4533G>T (p.Ser1511=) | |
| 17 | g.63941749C= | CA2270161086 | SCN4A | c.4533G= (p.Ser1511=) | |
| 17 | g.63941749C>G | CA501348206 | SCN4A | c.4533G>C (p.Ser1511=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63941749C>T | CA8708948 | SCN4A | c.4533G>A (p.Ser1511=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941750G>A | CA8708949 | SCN4A | c.4532C>T (p.Ser1511Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941750G>C | CA400615813 | SCN4A | c.4532C>G (p.Ser1511Trp) | |
| 17 | g.63941750G= | CA2270161087 | SCN4A | c.4532C= (p.Ser1511=) | |
| 17 | g.63941750G>T | CA400615814 | SCN4A | c.4532C>A (p.Ser1511Ter) | dbSNP |
| 17 | g.63941751A= | CA2270161088 | SCN4A | c.4531T= (p.Ser1511=) | |
| 17 | g.63941751A>C | CA400615815 | SCN4A | c.4531T>G (p.Ser1511Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63941751A>G | CA400615816 | SCN4A | c.4531T>C (p.Ser1511Pro) | |
| 17 | g.63941751A>T | CA400615817 | SCN4A | c.4531T>A (p.Ser1511Thr) | |
| 17 | g.63941752C>A | CA400615818 | SCN4A | c.4530G>T (p.Glu1510Asp) | |
| 17 | g.63941752C>G | CA400615819 | SCN4A | c.4530G>C (p.Glu1510Asp) | |
| 17 | g.63941752C>T | CA501348207 | SCN4A | c.4530G>A (p.Glu1510=) | gnomAD v4 |
| 17 | g.63941753T>A | CA400615822 | SCN4A | c.4529A>T (p.Glu1510Val) | |
| 17 | g.63941753T>C | CA400615821 | SCN4A | c.4529A>G (p.Glu1510Gly) | |
| 17 | g.63941753T>G | CA400615820 | SCN4A | c.4529A>C (p.Glu1510Ala) | |
| 17 | g.63941754C>A | CA400615823 | SCN4A | c.4528G>T (p.Glu1510Ter) | dbSNP |
| 17 | g.63941754C= | CA2270161089 | SCN4A | c.4528G= (p.Glu1510=) | |
| 17 | g.63941754C>G | CA400615825 | SCN4A | c.4528G>C (p.Glu1510Gln) | |
| 17 | g.63941754C>T | CA400615824 | SCN4A | c.4528G>A (p.Glu1510Lys) | |
| 17 | g.63941755C>A | CA400615826 | SCN4A | c.4527G>T (p.Lys1509Asn) | |
| 17 | g.63941755C= | CA2270161090 | SCN4A | c.4527G= (p.Lys1509=) | |
| 17 | g.63941755C>G | CA400615827 | SCN4A | c.4527G>C (p.Lys1509Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941755C>T | CA501348208 | SCN4A | c.4527G>A (p.Lys1509=) | |
| 17 | g.63941758_63941760del | CA2639307246 | SCN4A | c.4525_4527del (p.Lys1509del) | gnomAD v4 |
| 17 | g.63941756T>A | CA400615828 | SCN4A | c.4526A>T (p.Lys1509Met) | |
| 17 | g.63941756T>C | CA400615829 | SCN4A | c.4526A>G (p.Lys1509Arg) |