Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63941815G>A | CA8708954 | SCN4A | c.4467C>T (p.Leu1489=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941815G>C | CA501348286 | SCN4A | c.4467C>G (p.Leu1489=) | |
17 | g.63941815G= | CA2270161114 | SCN4A | c.4467C= (p.Leu1489=) | |
17 | g.63941815G>T | CA501348285 | SCN4A | c.4467C>A (p.Leu1489=) | |
17 | g.63941822_63941824del | CA2639307323 | SCN4A | c.4465_4467del (p.Leu1489del) | gnomAD v4 |
17 | g.63941816A>C | CA400615964 | SCN4A | c.4466T>G (p.Leu1489Arg) | |
17 | g.63941816A>G | CA400615965 | SCN4A | c.4466T>C (p.Leu1489Pro) | |
17 | g.63941816A>T | CA400615966 | SCN4A | c.4466T>A (p.Leu1489His) | |
17 | g.63941817G>A | CA400615968 | SCN4A | c.4465C>T (p.Leu1489Phe) | ClinVar dbSNP gnomAD v4 |
17 | g.63941817G>C | CA400615969 | SCN4A | c.4465C>G (p.Leu1489Val) | |
17 | g.63941817G= | CA2270161115 | SCN4A | c.4465C= (p.Leu1489=) | |
17 | g.63941817G>T | CA400615967 | SCN4A | c.4465C>A (p.Leu1489Ile) | |
17 | g.63941818G>A | CA8708955 | SCN4A | c.4464C>T (p.Leu1488=) | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.63941818G>C | CA292957157 | SCN4A | c.4464C>G (p.Leu1488=) | dbSNP gnomAD v4 |
17 | g.63941818G= | CA2270161116 | SCN4A | c.4464C= (p.Leu1488=) | |
17 | g.63941818G>T | CA501348292 | SCN4A | c.4464C>A (p.Leu1488=) | |
17 | g.63941819A= | CA2270161117 | SCN4A | c.4463T= (p.Leu1488=) | |
17 | g.63941819A>C | CA400615970 | SCN4A | c.4463T>G (p.Leu1488Arg) | |
17 | g.63941819A>G | CA16607427 | SCN4A | c.4463T>C (p.Leu1488Pro) | ClinVar dbSNP |
17 | g.63941819A>T | CA400615971 | SCN4A | c.4463T>A (p.Leu1488His) | gnomAD v4 |
17 | g.63941820G>A | CA400615972 | SCN4A | c.4462C>T (p.Leu1488Phe) | |
17 | g.63941820G>C | CA400615973 | SCN4A | c.4462C>G (p.Leu1488Val) | |
17 | g.63941820G>T | CA400615974 | SCN4A | c.4462C>A (p.Leu1488Ile) | |
17 | g.63941821G>A | CA501348296 | SCN4A | c.4461C>T (p.Leu1487=) | COSMIC |
17 | g.63941821G>C | CA501348297 | SCN4A | c.4461C>G (p.Leu1487=) | |
17 | g.63941821G>T | CA501348298 | SCN4A | c.4461C>A (p.Leu1487=) | |
17 | g.63941822A>C | CA400615975 | SCN4A | c.4460T>G (p.Leu1487Arg) | |
17 | g.63941822A>G | CA400615976 | SCN4A | c.4460T>C (p.Leu1487Pro) | |
17 | g.63941822A>T | CA400615977 | SCN4A | c.4460T>A (p.Leu1487His) | |
17 | g.63941823G>A | CA400615978 | SCN4A | c.4459C>T (p.Leu1487Phe) | ClinVar dbSNP gnomAD v4 |
17 | g.63941823G>C | CA400615979 | SCN4A | c.4459C>G (p.Leu1487Val) | |
17 | g.63941823G= | CA2270161118 | SCN4A | c.4459C= (p.Leu1487=) | |
17 | g.63941823G>T | CA400615980 | SCN4A | c.4459C>A (p.Leu1487Ile) | |
17 | g.63941824G>A | CA292957162 | SCN4A | c.4458C>T (p.Gly1486=) | ClinVar dbSNP gnomAD v4 |
17 | g.63941824G>C | CA501348302 | SCN4A | c.4458C>G (p.Gly1486=) | |
17 | g.63941824G= | CA2270161119 | SCN4A | c.4458C= (p.Gly1486=) | |
17 | g.63941824G>T | CA501348303 | SCN4A | c.4458C>A (p.Gly1486=) | |
17 | g.63941825C>A | CA400615981 | SCN4A | c.4457G>T (p.Gly1486Val) | ClinVar dbSNP |
17 | g.63941825C= | CA2270161120 | SCN4A | c.4457G= (p.Gly1486=) | |
17 | g.63941825C>G | CA400615982 | SCN4A | c.4457G>C (p.Gly1486Ala) | |
17 | g.63941825C>T | CA400615983 | SCN4A | c.4457G>A (p.Gly1486Asp) | dbSNP |
17 | g.63941826C>A | CA400615984 | SCN4A | c.4456G>T (p.Gly1486Cys) | |
17 | g.63941826C>G | CA400615985 | SCN4A | c.4456G>C (p.Gly1486Arg) | |
17 | g.63941826C>T | CA400615986 | SCN4A | c.4456G>A (p.Gly1486Ser) | ClinVar gnomAD v4 |
17 | g.63941827G>A | CA8708956 | SCN4A | c.4455C>T (p.Ile1485=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941827G>C | CA400615987 | SCN4A | c.4455C>G (p.Ile1485Met) | dbSNP |
17 | g.63941827G= | CA2270161121 | SCN4A | c.4455C= (p.Ile1485=) | |
17 | g.63941827G>T | CA501348306 | SCN4A | c.4455C>A (p.Ile1485=) | |
17 | g.63941828A>C | CA400615988 | SCN4A | c.4454T>G (p.Ile1485Ser) | |
17 | g.63941828A>G | CA400615989 | SCN4A | c.4454T>C (p.Ile1485Thr) |