Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63941719G>A | CA501348398 | SCN4A | c.4563C>T (p.Thr1521=) | gnomAD v3 gnomAD v4 |
17 | g.63941719G>C | CA501348399 | SCN4A | c.4563C>G (p.Thr1521=) | ClinVar gnomAD v4 |
17 | g.63941719G>T | CA501348397 | SCN4A | c.4563C>A (p.Thr1521=) | |
17 | g.63941720G>A | CA400615745 | SCN4A | c.4562C>T (p.Thr1521Ile) | gnomAD v4 |
17 | g.63941720G>C | CA400615744 | SCN4A | c.4562C>G (p.Thr1521Ser) | gnomAD v4 |
17 | g.63941720G= | CA2270161072 | SCN4A | c.4562C= (p.Thr1521=) | |
17 | g.63941720G>T | CA8708945 | SCN4A | c.4562C>A (p.Thr1521Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941721T>A | CA400615746 | SCN4A | c.4561A>T (p.Thr1521Ser) | |
17 | g.63941721T>C | CA400615747 | SCN4A | c.4561A>G (p.Thr1521Ala) | |
17 | g.63941721T>G | CA400615748 | SCN4A | c.4561A>C (p.Thr1521Pro) | |
17 | g.63941722C>A | CA400615749 | SCN4A | c.4560G>T (p.Glu1520Asp) | |
17 | g.63941722C>G | CA400615750 | SCN4A | c.4560G>C (p.Glu1520Asp) | |
17 | g.63941722C>T | CA501348401 | SCN4A | c.4560G>A (p.Glu1520=) | |
17 | g.63941723T>A | CA400615751 | SCN4A | c.4559A>T (p.Glu1520Val) | |
17 | g.63941723T>C | CA400615753 | SCN4A | c.4559A>G (p.Glu1520Gly) | |
17 | g.63941723T>G | CA400615752 | SCN4A | c.4559A>C (p.Glu1520Ala) | |
17 | g.63941724C>A | CA400615754 | SCN4A | c.4558G>T (p.Glu1520Ter) | dbSNP |
17 | g.63941724C= | CA2270161073 | SCN4A | c.4558G= (p.Glu1520=) | |
17 | g.63941724C>G | CA400615755 | SCN4A | c.4558G>C (p.Glu1520Gln) | |
17 | g.63941724C>T | CA292957070 | SCN4A | c.4558G>A (p.Glu1520Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941725G>A | CA292957078 | SCN4A | c.4557C>T (p.Phe1519=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941725G>C | CA400615756 | SCN4A | c.4557C>G (p.Phe1519Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941725G= | CA2270161074 | SCN4A | c.4557C= (p.Phe1519=) | |
17 | g.63941725G>T | CA400615757 | SCN4A | c.4557C>A (p.Phe1519Leu) | ClinVar dbSNP |
17 | g.63941726A>C | CA400615758 | SCN4A | c.4556T>G (p.Phe1519Cys) | |
17 | g.63941726A>G | CA400615759 | SCN4A | c.4556T>C (p.Phe1519Ser) | gnomAD v4 |
17 | g.63941726A>T | CA400615760 | SCN4A | c.4556T>A (p.Phe1519Tyr) | |
17 | g.63941727A>C | CA400615761 | SCN4A | c.4555T>G (p.Phe1519Val) | |
17 | g.63941727A>G | CA400615762 | SCN4A | c.4555T>C (p.Phe1519Leu) | |
17 | g.63941727A>T | CA400615763 | SCN4A | c.4555T>A (p.Phe1519Ile) | ClinVar |
17 | g.63941728G>A | CA501348191 | SCN4A | c.4554C>T (p.Asn1518=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941728G>C | CA400615764 | SCN4A | c.4554C>G (p.Asn1518Lys) | |
17 | g.63941728G= | CA2270161075 | SCN4A | c.4554C= (p.Asn1518=) | |
17 | g.63941728G>T | CA400615765 | SCN4A | c.4554C>A (p.Asn1518Lys) | |
17 | g.63941729T>A | CA400615767 | SCN4A | c.4553A>T (p.Asn1518Ile) | |
17 | g.63941729T>C | CA400615768 | SCN4A | c.4553A>G (p.Asn1518Ser) | gnomAD v4 |
17 | g.63941729T>G | CA400615766 | SCN4A | c.4553A>C (p.Asn1518Thr) | |
17 | g.63941730T>A | CA400615769 | SCN4A | c.4552A>T (p.Asn1518Tyr) | |
17 | g.63941730T>C | CA400615771 | SCN4A | c.4552A>G (p.Asn1518Asp) | |
17 | g.63941730T>G | CA400615770 | SCN4A | c.4552A>C (p.Asn1518His) | |
17 | g.63941731G>A | CA501348195 | SCN4A | c.4551C>T (p.Phe1517=) | |
17 | g.63941731G>C | CA400615772 | SCN4A | c.4551C>G (p.Phe1517Leu) | |
17 | g.63941731G= | CA2270161076 | SCN4A | c.4551C= (p.Phe1517=) | |
17 | g.63941731G>T | CA400615773 | SCN4A | c.4551C>A (p.Phe1517Leu) | |
17 | g.63941732A= | CA2270161077 | SCN4A | c.4550T= (p.Phe1517=) | |
17 | g.63941732A>C | CA400615774 | SCN4A | c.4550T>G (p.Phe1517Cys) | |
17 | g.63941732A>G | CA400615775 | SCN4A | c.4550T>C (p.Phe1517Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941732A>T | CA400615776 | SCN4A | c.4550T>A (p.Phe1517Tyr) | |
17 | g.63941733dup | CA627150331 | SCN4A | c.4550dup (p.Asn1518GlnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941733A= | CA2270161078 | SCN4A | c.4549T= (p.Phe1517=) |