Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.128254572C>A | CA457857393 | LEP | c.313C>A (p.Arg105=) c.310C>A (p.Arg104=) | COSMIC |
7 | g.128254572C= | CA1742271740 | LEP | c.313C= (p.Arg105=) c.310C= (p.Arg104=) | |
7 | g.128254572C>G | CA369443935 | LEP | c.313C>G (p.Arg105Gly) c.310C>G (p.Arg104Gly) | |
7 | g.128254572C>T | CA123668 | LEP | c.313C>T (p.Arg105Trp) c.310C>T (p.Arg104Trp) | ClinVar dbSNP gnomAD v4 |
7 | g.128254573G>A | CA369443936 | LEP | c.314G>A (p.Arg105Gln) c.311G>A (p.Arg104Gln) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254573G>C | CA369443937 | LEP | c.314G>C (p.Arg105Pro) c.311G>C (p.Arg104Pro) | |
7 | g.128254573G= | CA1742271745 | LEP | c.314G= (p.Arg105=) c.311G= (p.Arg104=) | |
7 | g.128254573G>T | CA369443938 | LEP | c.314G>T (p.Arg105Leu) c.311G>T (p.Arg104Leu) | |
7 | g.128254574G>A | CA166745232 | LEP | c.315G>A (p.Arg105=) c.312G>A (p.Arg104=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254574G>C | CA457857394 | LEP | c.315G>C (p.Arg105=) c.312G>C (p.Arg104=) | |
7 | g.128254574G= | CA1742271751 | LEP | c.315G= (p.Arg105=) c.312G= (p.Arg104=) | |
7 | g.128254574G>T | CA4469694 | LEP | c.315G>T (p.Arg105=) c.312G>T (p.Arg104=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254575G>A | CA369443939 | LEP | c.316G>A (p.Asp106Asn) c.313G>A (p.Asp105Asn) | gnomAD v4 |
7 | g.128254575G>C | CA369443940 | LEP | c.316G>C (p.Asp106His) c.313G>C (p.Asp105His) | |
7 | g.128254575G>T | CA369443941 | LEP | c.316G>T (p.Asp106Tyr) c.313G>T (p.Asp105Tyr) | |
7 | g.128254576A>C | CA369443942 | LEP | c.317A>C (p.Asp106Ala) c.314A>C (p.Asp105Ala) | |
7 | g.128254576A>G | CA369443943 | LEP | c.317A>G (p.Asp106Gly) c.314A>G (p.Asp105Gly) | |
7 | g.128254576A>T | CA369443944 | LEP | c.317A>T (p.Asp106Val) c.314A>T (p.Asp105Val) | gnomAD v4 |
7 | g.128254577T>A | CA369443946 | LEP | c.318T>A (p.Asp106Glu) c.315T>A (p.Asp105Glu) | |
7 | g.128254577T>C | CA457857395 | LEP | c.318T>C (p.Asp106=) c.315T>C (p.Asp105=) | dbSNP |
7 | g.128254577T>G | CA369443945 | LEP | c.318T>G (p.Asp106Glu) c.315T>G (p.Asp105Glu) | |
7 | g.128254578C>A | CA369443947 | LEP | c.319C>A (p.Leu107Ile) c.316C>A (p.Leu106Ile) | |
7 | g.128254578C= | CA1742271753 | LEP | c.319C= (p.Leu107=) c.316C= (p.Leu106=) | |
7 | g.128254578C>G | CA4469695 | LEP | c.319C>G (p.Leu107Val) c.316C>G (p.Leu106Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254578C>T | CA369443948 | LEP | c.319C>T (p.Leu107Phe) c.316C>T (p.Leu106Phe) | dbSNP gnomAD v4 |
7 | g.128254579T>A | CA369443949 | LEP | c.320T>A (p.Leu107His) c.317T>A (p.Leu106His) | |
7 | g.128254579T>C | CA369443950 | LEP | c.320T>C (p.Leu107Pro) c.317T>C (p.Leu106Pro) | |
7 | g.128254579T>G | CA369443951 | LEP | c.320T>G (p.Leu107Arg) c.317T>G (p.Leu106Arg) | |
7 | g.128254580T>A | CA457857399 | LEP | c.321T>A (p.Leu107=) c.318T>A (p.Leu106=) | gnomAD v4 |
7 | g.128254580T>C | CA457857400 | LEP | c.321T>C (p.Leu107=) c.318T>C (p.Leu106=) | |
7 | g.128254580T>G | CA4469696 | LEP | c.321T>G (p.Leu107=) c.318T>G (p.Leu106=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254580T= | CA1742271758 | LEP | c.321T= (p.Leu107=) c.318T= (p.Leu106=) | |
7 | g.128254581C>A | CA369443952 | LEP | c.322C>A (p.Leu108Ile) c.319C>A (p.Leu107Ile) | |
7 | g.128254581C>G | CA369443953 | LEP | c.322C>G (p.Leu108Val) c.319C>G (p.Leu107Val) | |
7 | g.128254581C>T | CA369443954 | LEP | c.322C>T (p.Leu108Phe) c.319C>T (p.Leu107Phe) | gnomAD v4 |
7 | g.128254582T>A | CA369443955 | LEP | c.323T>A (p.Leu108His) c.320T>A (p.Leu107His) | |
7 | g.128254582T>C | CA369443956 | LEP | c.323T>C (p.Leu108Pro) c.320T>C (p.Leu107Pro) | |
7 | g.128254582T>G | CA369443957 | LEP | c.323T>G (p.Leu108Arg) c.320T>G (p.Leu107Arg) | |
7 | g.128254583T>A | CA457857403 | LEP | c.324T>A (p.Leu108=) c.321T>A (p.Leu107=) | |
7 | g.128254583T>C | CA457857401 | LEP | c.324T>C (p.Leu108=) c.321T>C (p.Leu107=) | |
7 | g.128254583T>G | CA457857402 | LEP | c.324T>G (p.Leu108=) c.321T>G (p.Leu107=) | |
7 | g.128254584C>A | CA369443960 | LEP | c.325C>A (p.His109Asn) c.322C>A (p.His108Asn) | |
7 | g.128254584C>G | CA369443958 | LEP | c.325C>G (p.His109Asp) c.322C>G (p.His108Asp) | |
7 | g.128254584C>T | CA369443959 | LEP | c.325C>T (p.His109Tyr) c.322C>T (p.His108Tyr) | |
7 | g.128254585A>C | CA369443961 | LEP | c.326A>C (p.His109Pro) c.323A>C (p.His108Pro) | |
7 | g.128254585A>G | CA369443962 | LEP | c.326A>G (p.His109Arg) c.323A>G (p.His108Arg) | |
7 | g.128254585A>T | CA369443963 | LEP | c.326A>T (p.His109Leu) c.323A>T (p.His108Leu) | COSMIC |
7 | g.128254586C>A | CA369443964 | LEP | c.327C>A (p.His109Gln) c.324C>A (p.His108Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.128254586C= | CA1742271760 | LEP | c.327C= (p.His109=) c.324C= (p.His108=) | |
7 | g.128254586C>G | CA369443965 | LEP | c.327C>G (p.His109Gln) c.324C>G (p.His108Gln) |