Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135833176_135833177del | CA2661276704 | LCT | c.655_656del (p.Val219CysfsTer5) | gnomAD v4 |
2 | g.135833176C>A | CA1888577 | LCT | c.655G>T (p.Val219Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833176C= | CA1290841291 | LCT | c.655G= (p.Val219=) | |
2 | g.135833176C>G | CA348608847 | LCT | c.655G>C (p.Val219Leu) | dbSNP |
2 | g.135833176C>T | CA1888576 | LCT | c.655G>A (p.Val219Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833176_135833178delinsCAG | CA1290841292 | LCT | c.653_655delinsCTG (p.Ser218=) | |
2 | g.135833177A>C | CA429093536 | LCT | c.654T>G (p.Ser218=) | |
2 | g.135833177A>G | CA429093538 | LCT | c.654T>C (p.Ser218=) | |
2 | g.135833177A>T | CA429093537 | LCT | c.654T>A (p.Ser218=) | |
2 | g.135833181_135833182del | CA144323 | LCT | c.653_654del (p.Ser218CysfsTer6) | ClinVar dbSNP gnomAD v4 |
2 | g.135833178G>A | CA348608848 | LCT | c.653C>T (p.Ser218Phe) | |
2 | g.135833178G>C | CA348608849 | LCT | c.653C>G (p.Ser218Cys) | |
2 | g.135833178G>T | CA348608850 | LCT | c.653C>A (p.Ser218Tyr) | gnomAD v4 |
2 | g.135833179A>C | CA348608851 | LCT | c.652T>G (p.Ser218Ala) | |
2 | g.135833179A>G | CA348608852 | LCT | c.652T>C (p.Ser218Pro) | |
2 | g.135833179A>T | CA348608853 | LCT | c.652T>A (p.Ser218Thr) | |
2 | g.135833180G>A | CA429093539 | LCT | c.651C>T (p.Leu217=) | |
2 | g.135833180G>C | CA429093540 | LCT | c.651C>G (p.Leu217=) | ClinVar |
2 | g.135833180G>T | CA429093541 | LCT | c.651C>A (p.Leu217=) | |
2 | g.135833181A= | CA1290841293 | LCT | c.650T= (p.Leu217=) | |
2 | g.135833181A>C | CA348608856 | LCT | c.650T>G (p.Leu217Arg) | dbSNP gnomAD v4 |
2 | g.135833181A>G | CA348608854 | LCT | c.650T>C (p.Leu217Pro) | |
2 | g.135833181A>T | CA348608855 | LCT | c.650T>A (p.Leu217His) | |
2 | g.135833182G>A | CA348608857 | LCT | c.649C>T (p.Leu217Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833182G>C | CA1888578 | LCT | c.649C>G (p.Leu217Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833182G= | CA1290841294 | LCT | c.649C= (p.Leu217=) | |
2 | g.135833182G>T | CA348608858 | LCT | c.649C>A (p.Leu217Ile) | |
2 | g.135833183T>A | CA348608859 | LCT | c.648A>T (p.Lys216Asn) | |
2 | g.135833183T>C | CA429093542 | LCT | c.648A>G (p.Lys216=) | |
2 | g.135833183T>G | CA348608860 | LCT | c.648A>C (p.Lys216Asn) | |
2 | g.135833184T>A | CA348608861 | LCT | c.647A>T (p.Lys216Ile) | |
2 | g.135833184T>C | CA1888579 | LCT | c.647A>G (p.Lys216Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833184T>G | CA348608862 | LCT | c.647A>C (p.Lys216Thr) | |
2 | g.135833184T= | CA1290841295 | LCT | c.647A= (p.Lys216=) | |
2 | g.135833185T>A | CA348608863 | LCT | c.646A>T (p.Lys216Ter) | |
2 | g.135833185T>C | CA1888580 | LCT | c.646A>G (p.Lys216Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833185T>G | CA348608864 | LCT | c.646A>C (p.Lys216Gln) | |
2 | g.135833185T= | CA1290841296 | LCT | c.646A= (p.Lys216=) | |
2 | g.135833186T>A | CA429093543 | LCT | c.645A>T (p.Gly215=) | |
2 | g.135833186T>C | CA429093544 | LCT | c.645A>G (p.Gly215=) | |
2 | g.135833186T>G | CA429093545 | LCT | c.645A>C (p.Gly215=) | |
2 | g.135833187C>A | CA348608867 | LCT | c.644G>T (p.Gly215Val) | dbSNP |
2 | g.135833187C= | CA1290841297 | LCT | c.644G= (p.Gly215=) | |
2 | g.135833187C>G | CA348608866 | LCT | c.644G>C (p.Gly215Ala) | |
2 | g.135833187C>T | CA348608865 | LCT | c.644G>A (p.Gly215Glu) | |
2 | g.135833188C>A | CA348608868 | LCT | c.643G>T (p.Gly215Ter) | dbSNP gnomAD v4 |
2 | g.135833188C= | CA1290841298 | LCT | c.643G= (p.Gly215=) | |
2 | g.135833188C>G | CA348608869 | LCT | c.643G>C (p.Gly215Arg) | |
2 | g.135833188C>T | CA10610782 | LCT | c.643G>A (p.Gly215Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.135833189G>A | CA1888582 | LCT | c.642C>T (p.Gly214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |