Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63941862C>A | CA400616061 | SCN4A | c.4420G>T (p.Ala1474Ser) | gnomAD v4 |
17 | g.63941862C= | CA2270161141 | SCN4A | c.4420G= (p.Ala1474=) | |
17 | g.63941862C>G | CA400616062 | SCN4A | c.4420G>C (p.Ala1474Pro) | |
17 | g.63941862C>T | CA8708964 | SCN4A | c.4420G>A (p.Ala1474Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941863del | CA2639307363 | SCN4A | c.4419del (p.Phe1473LeufsTer4) | gnomAD v4 |
17 | g.63941863G>A | CA8708965 | SCN4A | c.4419C>T (p.Phe1473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941863G>C | CA400616063 | SCN4A | c.4419C>G (p.Phe1473Leu) | |
17 | g.63941863G= | CA2270161142 | SCN4A | c.4419C= (p.Phe1473=) | |
17 | g.63941863G>T | CA400616064 | SCN4A | c.4419C>A (p.Phe1473Leu) | |
17 | g.63941864A>C | CA400616067 | SCN4A | c.4418T>G (p.Phe1473Cys) | |
17 | g.63941864A>G | CA400616065 | SCN4A | c.4418T>C (p.Phe1473Ser) | ClinVar |
17 | g.63941864A>T | CA400616066 | SCN4A | c.4418T>A (p.Phe1473Tyr) | |
17 | g.63941865A>C | CA400616068 | SCN4A | c.4417T>G (p.Phe1473Val) | |
17 | g.63941865A>G | CA400616069 | SCN4A | c.4417T>C (p.Phe1473Leu) | |
17 | g.63941865A>T | CA400616070 | SCN4A | c.4417T>A (p.Phe1473Ile) | |
17 | g.63941866C>A | CA501348445 | SCN4A | c.4416G>T (p.Leu1472=) | |
17 | g.63941866C= | CA2270161143 | SCN4A | c.4416G= (p.Leu1472=) | |
17 | g.63941866C>G | CA501348446 | SCN4A | c.4416G>C (p.Leu1472=) | |
17 | g.63941866C>T | CA8708966 | SCN4A | c.4416G>A (p.Leu1472=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941867A= | CA2270161144 | SCN4A | c.4415T= (p.Leu1472=) | |
17 | g.63941867A>C | CA400616071 | SCN4A | c.4415T>G (p.Leu1472Arg) | |
17 | g.63941867A>G | CA16603311 | SCN4A | c.4415T>C (p.Leu1472Pro) | ClinVar dbSNP gnomAD v4 |
17 | g.63941867A>T | CA400616072 | SCN4A | c.4415T>A (p.Leu1472Gln) | |
17 | g.63941868G>A | CA501348448 | SCN4A | c.4414C>T (p.Leu1472=) | gnomAD v4 |
17 | g.63941868G>C | CA400616073 | SCN4A | c.4414C>G (p.Leu1472Val) | |
17 | g.63941868G= | CA2270161145 | SCN4A | c.4414C= (p.Leu1472=) | |
17 | g.63941868G>T | CA400616074 | SCN4A | c.4414C>A (p.Leu1472Met) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941869C>A | CA501348449 | SCN4A | c.4413G>T (p.Leu1471=) | |
17 | g.63941869C>G | CA501348450 | SCN4A | c.4413G>C (p.Leu1471=) | |
17 | g.63941869C>T | CA501348451 | SCN4A | c.4413G>A (p.Leu1471=) | |
17 | g.63941870A>C | CA400616075 | SCN4A | c.4412T>G (p.Leu1471Arg) | |
17 | g.63941870A>G | CA400616076 | SCN4A | c.4412T>C (p.Leu1471Pro) | |
17 | g.63941870A>T | CA400616077 | SCN4A | c.4412T>A (p.Leu1471Gln) | gnomAD v4 |
17 | g.63941871G>A | CA501348452 | SCN4A | c.4411C>T (p.Leu1471=) | |
17 | g.63941871G>C | CA400616078 | SCN4A | c.4411C>G (p.Leu1471Val) | |
17 | g.63941871G>T | CA400616079 | SCN4A | c.4411C>A (p.Leu1471Met) | |
17 | g.63941872C>A | CA8708967 | SCN4A | c.4410G>T (p.Thr1470=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941872C= | CA2270161146 | SCN4A | c.4410G= (p.Thr1470=) | |
17 | g.63941872C>G | CA501348455 | SCN4A | c.4410G>C (p.Thr1470=) | dbSNP |
17 | g.63941872C>T | CA8708968 | SCN4A | c.4410G>A (p.Thr1470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941873G>A | CA8708969 | SCN4A | c.4409C>T (p.Thr1470Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941873G>C | CA400616080 | SCN4A | c.4409C>G (p.Thr1470Arg) | |
17 | g.63941873G= | CA2270161147 | SCN4A | c.4409C= (p.Thr1470=) | |
17 | g.63941873G>T | CA400616081 | SCN4A | c.4409C>A (p.Thr1470Lys) | dbSNP |
17 | g.63941874T>A | CA400616084 | SCN4A | c.4408A>T (p.Thr1470Ser) | |
17 | g.63941874T>C | CA400616083 | SCN4A | c.4408A>G (p.Thr1470Ala) | |
17 | g.63941874T>G | CA400616082 | SCN4A | c.4408A>C (p.Thr1470Pro) | gnomAD v4 |
17 | g.63941875C>A | CA501348457 | SCN4A | c.4407G>T (p.Arg1469=) | |
17 | g.63941875C= | CA2270161148 | SCN4A | c.4407G= (p.Arg1469=) | |
17 | g.63941875C>G | CA501348458 | SCN4A | c.4407G>C (p.Arg1469=) |