Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.115732949A>C | CA419896054 | CASQ2 | c.282T>G (p.Ala94=) c.558T>G (p.Ala186=) | |
1 | g.115732949A>G | CA419896055 | CASQ2 | c.282T>C (p.Ala94=) c.558T>C (p.Ala186=) | |
1 | g.115732949A>T | CA419896056 | CASQ2 | c.282T>A (p.Ala94=) c.558T>A (p.Ala186=) | gnomAD v4 |
1 | g.115732950G>A | CA341769037 | CASQ2 | c.281C>T (p.Ala94Val) c.557C>T (p.Ala186Val) | |
1 | g.115732950G>C | CA341769039 | CASQ2 | c.281C>G (p.Ala94Gly) c.557C>G (p.Ala186Gly) | |
1 | g.115732950G>T | CA341769038 | CASQ2 | c.281C>A (p.Ala94Asp) c.557C>A (p.Ala186Asp) | |
1 | g.115732951C>A | CA341769040 | CASQ2 | c.280G>T (p.Ala94Ser) c.556G>T (p.Ala186Ser) | |
1 | g.115732951C= | CA1190726927 | CASQ2 | c.280G= (p.Ala94=) c.556G= (p.Ala186=) | |
1 | g.115732951C>G | CA341769041 | CASQ2 | c.280G>C (p.Ala94Pro) c.556G>C (p.Ala186Pro) | |
1 | g.115732951C>T | CA1023866 | CASQ2 | c.280G>A (p.Ala94Thr) c.556G>A (p.Ala186Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.115732952T>A | CA419896060 | CASQ2 | c.279A>T (p.Ala93=) c.555A>T (p.Ala185=) | |
1 | g.115732952T>C | CA419896058 | CASQ2 | c.279A>G (p.Ala93=) c.555A>G (p.Ala185=) | |
1 | g.115732952T>G | CA419896059 | CASQ2 | c.279A>C (p.Ala93=) c.555A>C (p.Ala185=) | |
1 | g.115732953G>A | CA29640352 | CASQ2 | c.278C>T (p.Ala93Val) c.554C>T (p.Ala185Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.115732953G>C | CA341769042 | CASQ2 | c.278C>G (p.Ala93Gly) c.554C>G (p.Ala185Gly) | gnomAD v4 |
1 | g.115732953G= | CA1190726928 | CASQ2 | c.278C= (p.Ala93=) c.554C= (p.Ala185=) | |
1 | g.115732953G>T | CA341769043 | CASQ2 | c.278C>A (p.Ala93Glu) c.554C>A (p.Ala185Glu) | |
1 | g.115732954C>A | CA341769044 | CASQ2 | c.277G>T (p.Ala93Ser) c.553G>T (p.Ala185Ser) | |
1 | g.115732954C= | CA1190726929 | CASQ2 | c.277G= (p.Ala93=) c.553G= (p.Ala185=) | |
1 | g.115732954C>G | CA341769045 | CASQ2 | c.277G>C (p.Ala93Pro) c.553G>C (p.Ala185Pro) | |
1 | g.115732954C>T | CA341769046 | CASQ2 | c.277G>A (p.Ala93Thr) c.553G>A (p.Ala185Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.115732955T>A | CA341769047 | CASQ2 | c.276A>T (p.Glu92Asp) c.552A>T (p.Glu184Asp) | |
1 | g.115732955T>C | CA419896062 | CASQ2 | c.276A>G (p.Glu92=) c.552A>G (p.Glu184=) | |
1 | g.115732955T>G | CA341769048 | CASQ2 | c.276A>C (p.Glu92Asp) c.552A>C (p.Glu184Asp) | |
1 | g.115732956T>A | CA341769051 | CASQ2 | c.275A>T (p.Glu92Val) c.551A>T (p.Glu184Val) | |
1 | g.115732956T>C | CA341769050 | CASQ2 | c.275A>G (p.Glu92Gly) c.551A>G (p.Glu184Gly) | gnomAD v4 |
1 | g.115732956T>G | CA341769049 | CASQ2 | c.275A>C (p.Glu92Ala) c.551A>C (p.Glu184Ala) | |
1 | g.115732957C>A | CA341769052 | CASQ2 | c.274G>T (p.Glu92Ter) c.550G>T (p.Glu184Ter) | gnomAD v4 |
1 | g.115732957C= | CA1190726930 | CASQ2 | c.274G= (p.Glu92=) c.550G= (p.Glu184=) | |
1 | g.115732957C>G | CA341769053 | CASQ2 | c.274G>C (p.Glu92Gln) c.550G>C (p.Glu184Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.115732957C>T | CA341769054 | CASQ2 | c.274G>A (p.Glu92Lys) c.550G>A (p.Glu184Lys) | |
1 | g.115732958T>A | CA341769055 | CASQ2 | c.273A>T (p.Glu91Asp) c.549A>T (p.Glu183Asp) | |
1 | g.115732958T>C | CA419896063 | CASQ2 | c.273A>G (p.Glu91=) c.549A>G (p.Glu183=) | |
1 | g.115732958T>G | CA341769056 | CASQ2 | c.273A>C (p.Glu91Asp) c.549A>C (p.Glu183Asp) | |
1 | g.115732958_115732965delinsTTCAAAAG | CA1190726931 | CASQ2 | c.266_273delinsCTTTTGAA (p.Ala89=) c.542_549delinsCTTTTGAA (p.Ala181=) | |
1 | g.115732959T>A | CA341769057 | CASQ2 | c.272A>T (p.Glu91Val) c.548A>T (p.Glu183Val) | |
1 | g.115732959T>C | CA341769058 | CASQ2 | c.272A>G (p.Glu91Gly) c.548A>G (p.Glu183Gly) | |
1 | g.115732959T>G | CA341769059 | CASQ2 | c.272A>C (p.Glu91Ala) c.548A>C (p.Glu183Ala) | |
1 | g.115732959_115732965del | CA1023867 | CASQ2 | c.266_272del (p.Ala89GlufsTer27) c.542_548del (p.Ala181GlufsTer27) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115732960C>A | CA341769060 | CASQ2 | c.271G>T (p.Glu91Ter) c.547G>T (p.Glu183Ter) | |
1 | g.115732960C= | CA1190726933 | CASQ2 | c.271G= (p.Glu91=) c.547G= (p.Glu183=) | |
1 | g.115732960C>G | CA341769061 | CASQ2 | c.271G>C (p.Glu91Gln) c.547G>C (p.Glu183Gln) | |
1 | g.115732960C>T | CA1023868 | CASQ2 | c.271G>A (p.Glu91Lys) c.547G>A (p.Glu183Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115732960_115732961delinsCA | CA1190726932 | CASQ2 | c.270_271delinsTG (p.Phe90=) c.546_547delinsTG (p.Phe182=) | |
1 | g.115732961A>C | CA341769063 | CASQ2 | c.270T>G (p.Phe90Leu) c.546T>G (p.Phe182Leu) | |
1 | g.115732961A>G | CA419896064 | CASQ2 | c.270T>C (p.Phe90=) c.546T>C (p.Phe182=) | |
1 | g.115732961A>T | CA341769062 | CASQ2 | c.270T>A (p.Phe90Leu) c.546T>A (p.Phe182Leu) | |
1 | g.115732964del | CA351370 | CASQ2 | c.270del (p.Phe90LeufsTer28) c.546del (p.Phe182LeufsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115732962A= | CA1190726934 | CASQ2 | c.269T= (p.Phe90=) c.545T= (p.Phe182=) | |
1 | g.115732962A>C | CA341769064 | CASQ2 | c.269T>G (p.Phe90Cys) c.545T>G (p.Phe182Cys) |