Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63941915_63941930del | CA2739268312 | SCN4A | c.4354_4369del (p.Leu1452ValfsTer5) | ClinVar |
17 | g.63941915C>A | CA400616151 | SCN4A | c.4367G>T (p.Gly1456Val) | ClinVar |
17 | g.63941915C= | CA2270161171 | SCN4A | c.4367G= (p.Gly1456=) | |
17 | g.63941915C>G | CA400616152 | SCN4A | c.4367G>C (p.Gly1456Ala) | |
17 | g.63941915C>T | CA117849 | SCN4A | c.4367G>A (p.Gly1456Glu) | ClinVar dbSNP |
17 | g.63941916C>A | CA400616153 | SCN4A | c.4366G>T (p.Gly1456Trp) | ClinVar dbSNP |
17 | g.63941916C>G | CA400616154 | SCN4A | c.4366G>C (p.Gly1456Arg) | |
17 | g.63941916C>T | CA400616155 | SCN4A | c.4366G>A (p.Gly1456Arg) | |
17 | g.63941917A>C | CA400616156 | SCN4A | c.4365T>G (p.Ile1455Met) | |
17 | g.63941917A>G | CA501348517 | SCN4A | c.4365T>C (p.Ile1455=) | |
17 | g.63941917A>T | CA501348515 | SCN4A | c.4365T>A (p.Ile1455=) | COSMIC |
17 | g.63941918A= | CA2270161172 | SCN4A | c.4364T= (p.Ile1455=) | |
17 | g.63941918A>C | CA400616157 | SCN4A | c.4364T>G (p.Ile1455Ser) | ClinVar dbSNP |
17 | g.63941918A>G | CA292957326 | SCN4A | c.4364T>C (p.Ile1455Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941918A>T | CA400616158 | SCN4A | c.4364T>A (p.Ile1455Asn) | |
17 | g.63941919T>A | CA400616159 | SCN4A | c.4363A>T (p.Ile1455Phe) | |
17 | g.63941919T>C | CA400616161 | SCN4A | c.4363A>G (p.Ile1455Val) | |
17 | g.63941919T>G | CA400616160 | SCN4A | c.4363A>C (p.Ile1455Leu) | |
17 | g.63941920C>A | CA8708981 | SCN4A | c.4362G>T (p.Arg1454=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941920C= | CA2270161173 | SCN4A | c.4362G= (p.Arg1454=) | |
17 | g.63941920C>G | CA501348522 | SCN4A | c.4362G>C (p.Arg1454=) | |
17 | g.63941920C>T | CA501348523 | SCN4A | c.4362G>A (p.Arg1454=) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.63941921C>A | CA400616162 | SCN4A | c.4361G>T (p.Arg1454Leu) | |
17 | g.63941921C= | CA2270161174 | SCN4A | c.4361G= (p.Arg1454=) | |
17 | g.63941921C>G | CA400616163 | SCN4A | c.4361G>C (p.Arg1454Pro) | |
17 | g.63941921C>T | CA8708982 | SCN4A | c.4361G>A (p.Arg1454Gln) | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
17 | g.63941922G>A | CA10584065 | SCN4A | c.4360C>T (p.Arg1454Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941922G>C | CA400616164 | SCN4A | c.4360C>G (p.Arg1454Gly) | |
17 | g.63941922G= | CA2270161175 | SCN4A | c.4360C= (p.Arg1454=) | |
17 | g.63941922G>T | CA501348524 | SCN4A | c.4360C>A (p.Arg1454=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941923C>A | CA501348525 | SCN4A | c.4359G>T (p.Ala1453=) | |
17 | g.63941923C= | CA2270161176 | SCN4A | c.4359G= (p.Ala1453=) | |
17 | g.63941923C>G | CA501348526 | SCN4A | c.4359G>C (p.Ala1453=) | |
17 | g.63941923C>T | CA8708983 | SCN4A | c.4359G>A (p.Ala1453=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941924G>A | CA8708984 | SCN4A | c.4358C>T (p.Ala1453Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941924G>C | CA400616165 | SCN4A | c.4358C>G (p.Ala1453Gly) | |
17 | g.63941924G= | CA2270161177 | SCN4A | c.4358C= (p.Ala1453=) | |
17 | g.63941924G>T | CA8708985 | SCN4A | c.4358C>A (p.Ala1453Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941925C>A | CA400616166 | SCN4A | c.4357G>T (p.Ala1453Ser) | |
17 | g.63941925C>G | CA400616167 | SCN4A | c.4357G>C (p.Ala1453Pro) | gnomAD v4 |
17 | g.63941925C>T | CA400616168 | SCN4A | c.4357G>A (p.Ala1453Thr) | COSMIC |
17 | g.63941926C>A | CA501348528 | SCN4A | c.4356G>T (p.Leu1452=) | |
17 | g.63941926C= | CA2270161178 | SCN4A | c.4356G= (p.Leu1452=) | |
17 | g.63941926C>G | CA501348527 | SCN4A | c.4356G>C (p.Leu1452=) | |
17 | g.63941926C>T | CA8708986 | SCN4A | c.4356G>A (p.Leu1452=) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
17 | g.63941927A= | CA2270161179 | SCN4A | c.4355T= (p.Leu1452=) | |
17 | g.63941927A>C | CA400616169 | SCN4A | c.4355T>G (p.Leu1452Arg) | |
17 | g.63941927A>G | CA400616170 | SCN4A | c.4355T>C (p.Leu1452Pro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941927A>T | CA400616171 | SCN4A | c.4355T>A (p.Leu1452Gln) | |
17 | g.63941928G>A | CA501348530 | SCN4A | c.4354C>T (p.Leu1452=) |