Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63951766C>A | CA400626899 | SCN4A | c.2511G>T (p.Lys837Asn) | gnomAD v4 |
17 | g.63951766C>G | CA400626901 | SCN4A | c.2511G>C (p.Lys837Asn) | |
17 | g.63951766C>T | CA501224683 | SCN4A | c.2511G>A (p.Lys837=) | |
17 | g.63951767T>A | CA400626902 | SCN4A | c.2510A>T (p.Lys837Met) | gnomAD v4 |
17 | g.63951767T>C | CA400626904 | SCN4A | c.2510A>G (p.Lys837Arg) | |
17 | g.63951767T>G | CA400626906 | SCN4A | c.2510A>C (p.Lys837Thr) | |
17 | g.63951768T>A | CA400626907 | SCN4A | c.2509A>T (p.Lys837Ter) | dbSNP |
17 | g.63951768T>C | CA400626909 | SCN4A | c.2509A>G (p.Lys837Glu) | gnomAD v4 |
17 | g.63951768T>G | CA400626910 | SCN4A | c.2509A>C (p.Lys837Gln) | |
17 | g.63951768T= | CA2270166063 | SCN4A | c.2509A= (p.Lys837=) | |
17 | g.63951769G>A | CA501224689 | SCN4A | c.2508C>T (p.Ala836=) | |
17 | g.63951769G>C | CA501224691 | SCN4A | c.2508C>G (p.Ala836=) | |
17 | g.63951769G>T | CA501224693 | SCN4A | c.2508C>A (p.Ala836=) | gnomAD v4 |
17 | g.63951770G>A | CA400626913 | SCN4A | c.2507C>T (p.Ala836Val) | gnomAD v4 COSMIC |
17 | g.63951770G>C | CA400626915 | SCN4A | c.2507C>G (p.Ala836Gly) | |
17 | g.63951770G>T | CA400626912 | SCN4A | c.2507C>A (p.Ala836Asp) | |
17 | g.63951771C>A | CA400626917 | SCN4A | c.2506G>T (p.Ala836Ser) | gnomAD v4 |
17 | g.63951771C>G | CA400626919 | SCN4A | c.2506G>C (p.Ala836Pro) | |
17 | g.63951771C>T | CA400626920 | SCN4A | c.2506G>A (p.Ala836Thr) | gnomAD v4 |
17 | g.63951772A>C | CA400626922 | SCN4A | c.2505T>G (p.Phe835Leu) | |
17 | g.63951772A>G | CA501224699 | SCN4A | c.2505T>C (p.Phe835=) | |
17 | g.63951772A>T | CA400626924 | SCN4A | c.2505T>A (p.Phe835Leu) | |
17 | g.63951773A= | CA2270166064 | SCN4A | c.2504T= (p.Phe835=) | |
17 | g.63951773A>C | CA400626928 | SCN4A | c.2504T>G (p.Phe835Cys) | |
17 | g.63951773A>G | CA400626927 | SCN4A | c.2504T>C (p.Phe835Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63951773A>T | CA400626925 | SCN4A | c.2504T>A (p.Phe835Tyr) | |
17 | g.63951774A>C | CA400626930 | SCN4A | c.2503T>G (p.Phe835Val) | |
17 | g.63951774A>G | CA400626932 | SCN4A | c.2503T>C (p.Phe835Leu) | |
17 | g.63951774A>T | CA400626933 | SCN4A | c.2503T>A (p.Phe835Ile) | gnomAD v4 |
17 | g.63951775G>A | CA501224703 | SCN4A | c.2502C>T (p.Gly834=) | gnomAD v4 |
17 | g.63951775G>C | CA501224704 | SCN4A | c.2502C>G (p.Gly834=) | |
17 | g.63951775G>T | CA501224705 | SCN4A | c.2502C>A (p.Gly834=) | gnomAD v4 |
17 | g.63951776C>A | CA400626936 | SCN4A | c.2501G>T (p.Gly834Val) | gnomAD v4 |
17 | g.63951776C>G | CA400626937 | SCN4A | c.2501G>C (p.Gly834Ala) | |
17 | g.63951776C>T | CA400626938 | SCN4A | c.2501G>A (p.Gly834Asp) | gnomAD v4 |
17 | g.63951777C>A | CA292964358 | SCN4A | c.2500G>T (p.Gly834Cys) | dbSNP |
17 | g.63951777C= | CA2270166065 | SCN4A | c.2500G= (p.Gly834=) | |
17 | g.63951777C>G | CA400626942 | SCN4A | c.2500G>C (p.Gly834Arg) | |
17 | g.63951777C>T | CA400626940 | SCN4A | c.2500G>A (p.Gly834Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63951778G>A | CA8709569 | SCN4A | c.2499C>T (p.Ile833=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63951778G>C | CA400626943 | SCN4A | c.2499C>G (p.Ile833Met) | |
17 | g.63951778G= | CA2270166066 | SCN4A | c.2499C= (p.Ile833=) | |
17 | g.63951778G>T | CA501224713 | SCN4A | c.2499C>A (p.Ile833=) | gnomAD v4 |
17 | g.63951779A>C | CA400626944 | SCN4A | c.2498T>G (p.Ile833Ser) | |
17 | g.63951779A>G | CA400626946 | SCN4A | c.2498T>C (p.Ile833Thr) | |
17 | g.63951779A>T | CA400626947 | SCN4A | c.2498T>A (p.Ile833Asn) | |
17 | g.63951780T>A | CA400626950 | SCN4A | c.2497A>T (p.Ile833Phe) | gnomAD v4 |
17 | g.63951780T>C | CA400626951 | SCN4A | c.2497A>G (p.Ile833Val) | dbSNP gnomAD v4 |
17 | g.63951780T>G | CA400626952 | SCN4A | c.2497A>C (p.Ile833Leu) | gnomAD v4 |
17 | g.63951780T= | CA2270166067 | SCN4A | c.2497A= (p.Ile833=) |