Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135833181_135833182del | CA144323 | LCT | c.653_654del (p.Ser218CysfsTer6) | ClinVar dbSNP gnomAD v4 |
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 |
2 | g.135833189G>C | CA1888581 | LCT | c.642C>G (p.Gly214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833189G= | CA1290841299 | LCT | c.642C= (p.Gly214=) | |
2 | g.135833189G>T | CA429093546 | LCT | c.642C>A (p.Gly214=) | gnomAD v4 |
2 | g.135833190C>A | CA348608870 | LCT | c.641G>T (p.Gly214Val) | |
2 | g.135833190C>G | CA348608871 | LCT | c.641G>C (p.Gly214Ala) | |
2 | g.135833190C>T | CA348608872 | LCT | c.641G>A (p.Gly214Asp) | COSMIC |
2 | g.135833191C>A | CA348608873 | LCT | c.641-1G>T (n.641-1G>T) | |
2 | g.135833191C>G | CA348608874 | LCT | c.641-1G>C (n.641-1G>C) | |
2 | g.135833191C>T | CA348608875 | LCT | c.641-1G>A (n.641-1G>A) | gnomAD v4 |
2 | g.135833192T>A | CA348608878 | LCT | c.641-2A>T (n.641-2A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135833192T>C | CA348608877 | LCT | c.641-2A>G (n.641-2A>G) | gnomAD v4 |
2 | g.135833192T>G | CA348608876 | LCT | c.641-2A>C (n.641-2A>C) | |
2 | g.135833192T= | CA1290841300 | LCT | c.641-2A= (n.641-2A=) | |
2 | g.135833193G>A | CA1290841302 | LCT | c.641-3C>T (n.641-3C>T) | dbSNP gnomAD v4 |
2 | g.135833193G= | CA1290841301 | LCT | c.641-3C= (n.641-3C=) | |
2 | g.135833196A= | CA1290841303 | LCT | c.641-6T= (n.641-6T=) | |
2 | g.135833196A>G | CA536397308 | LCT | c.641-6T>C (n.641-6T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135833198C>A | CA2511489501 | LCT | c.641-8G>T (n.641-8G>T) |