Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63971759G>A | CA8710112 | SCN4A | c.574C>T (p.Pro192Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63971759G>C | CA400638992 | SCN4A | c.574C>G (p.Pro192Ala) | |
17 | g.63971759G= | CA2270175512 | SCN4A | c.574C= (p.Pro192=) | |
17 | g.63971759G>T | CA400638994 | SCN4A | c.574C>A (p.Pro192Thr) | |
17 | g.63971760G>A | CA501226958 | SCN4A | c.573C>T (p.Asp191=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971760G>C | CA400638996 | SCN4A | c.573C>G (p.Asp191Glu) | |
17 | g.63971760G= | CA2270175513 | SCN4A | c.573C= (p.Asp191=) | |
17 | g.63971760G>T | CA400638998 | SCN4A | c.573C>A (p.Asp191Glu) | |
17 | g.63971761T>A | CA400638999 | SCN4A | c.572A>T (p.Asp191Val) | |
17 | g.63971761T>C | CA400639001 | SCN4A | c.572A>G (p.Asp191Gly) | |
17 | g.63971761T>G | CA400639003 | SCN4A | c.572A>C (p.Asp191Ala) | gnomAD v4 |
17 | g.63971762C>A | CA400639007 | SCN4A | c.571G>T (p.Asp191Tyr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63971762C= | CA2270175514 | SCN4A | c.571G= (p.Asp191=) | |
17 | g.63971762C>G | CA400639009 | SCN4A | c.571G>C (p.Asp191His) | |
17 | g.63971762C>T | CA400639005 | SCN4A | c.571G>A (p.Asp191Asn) | |
17 | g.63971763C>A | CA501226960 | SCN4A | c.570G>T (p.Arg190=) | |
17 | g.63971763C>G | CA501226962 | SCN4A | c.570G>C (p.Arg190=) | |
17 | g.63971763C>T | CA501226964 | SCN4A | c.570G>A (p.Arg190=) | |
17 | g.63971764C>A | CA400639011 | SCN4A | c.569G>T (p.Arg190Leu) | |
17 | g.63971764C= | CA2270175515 | SCN4A | c.569G= (p.Arg190=) | |
17 | g.63971764C>G | CA400639013 | SCN4A | c.569G>C (p.Arg190Pro) | |
17 | g.63971764C>T | CA8710113 | SCN4A | c.569G>A (p.Arg190Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971765G>A | CA8710114 | SCN4A | c.568C>T (p.Arg190Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63971765G>C | CA400639016 | SCN4A | c.568C>G (p.Arg190Gly) | |
17 | g.63971765G= | CA2270175516 | SCN4A | c.568C= (p.Arg190=) | |
17 | g.63971765G>T | CA501226966 | SCN4A | c.568C>A (p.Arg190=) | |
17 | g.63971766G>A | CA501226967 | SCN4A | c.567C>T (p.Leu189=) | gnomAD v4 |
17 | g.63971766G>C | CA501226969 | SCN4A | c.567C>G (p.Leu189=) | |
17 | g.63971766G= | CA2270175517 | SCN4A | c.567C= (p.Leu189=) | |
17 | g.63971766G>T | CA8710115 | SCN4A | c.567C>A (p.Leu189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63971767A>C | CA400639018 | SCN4A | c.566T>G (p.Leu189Arg) | |
17 | g.63971767A>G | CA400639019 | SCN4A | c.566T>C (p.Leu189Pro) | |
17 | g.63971767A>T | CA400639021 | SCN4A | c.566T>A (p.Leu189His) | |
17 | g.63971768G>A | CA400639023 | SCN4A | c.565C>T (p.Leu189Phe) | |
17 | g.63971768G>C | CA400639025 | SCN4A | c.565C>G (p.Leu189Val) | |
17 | g.63971768G>T | CA400639027 | SCN4A | c.565C>A (p.Leu189Ile) | gnomAD v4 |
17 | g.63971769G>A | CA8710116 | SCN4A | c.564C>T (p.Phe188=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.63971769G>C | CA400639031 | SCN4A | c.564C>G (p.Phe188Leu) | |
17 | g.63971769G= | CA2270175518 | SCN4A | c.564C= (p.Phe188=) | |
17 | g.63971769G>T | CA400639029 | SCN4A | c.564C>A (p.Phe188Leu) | dbSNP gnomAD v4 |
17 | g.63971770A>C | CA400639033 | SCN4A | c.563T>G (p.Phe188Cys) | |
17 | g.63971770A>G | CA400639035 | SCN4A | c.563T>C (p.Phe188Ser) | |
17 | g.63971770A>T | CA400639037 | SCN4A | c.563T>A (p.Phe188Tyr) | |
17 | g.63971771A>C | CA400639039 | SCN4A | c.562T>G (p.Phe188Val) | |
17 | g.63971771A>G | CA400639041 | SCN4A | c.562T>C (p.Phe188Leu) | |
17 | g.63971771A>T | CA400639042 | SCN4A | c.562T>A (p.Phe188Ile) | |
17 | g.63971772T>A | CA501226974 | SCN4A | c.561A>T (p.Thr187=) | |
17 | g.63971772T>C | CA501226975 | SCN4A | c.561A>G (p.Thr187=) | |
17 | g.63971772T>G | CA501226976 | SCN4A | c.561A>C (p.Thr187=) | |
17 | g.63971773G>A | CA400639045 | SCN4A | c.560C>T (p.Thr187Ile) |