Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.115732962A>G | CA341769065 | CASQ2 | c.269T>C (p.Phe90Ser) c.545T>C (p.Phe182Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115732962A>T | CA341769066 | CASQ2 | c.269T>A (p.Phe90Tyr) c.545T>A (p.Phe182Tyr) | |
1 | g.115732963A>C | CA341769067 | CASQ2 | c.268T>G (p.Phe90Val) c.544T>G (p.Phe182Val) | |
1 | g.115732963A>G | CA341769068 | CASQ2 | c.268T>C (p.Phe90Leu) c.544T>C (p.Phe182Leu) | |
1 | g.115732963A>T | CA341769069 | CASQ2 | c.268T>A (p.Phe90Ile) c.544T>A (p.Phe182Ile) | |
1 | g.115732964A= | CA1190726935 | CASQ2 | c.267T= (p.Ala89=) c.543T= (p.Ala181=) | |
1 | g.115732964A>C | CA29640391 | CASQ2 | c.267T>G (p.Ala89=) c.543T>G (p.Ala181=) | ClinVar dbSNP |
1 | g.115732964A>G | CA419896065 | CASQ2 | c.267T>C (p.Ala89=) c.543T>C (p.Ala181=) | gnomAD v4 |
1 | g.115732964A>T | CA419896066 | CASQ2 | c.267T>A (p.Ala89=) c.543T>A (p.Ala181=) | |
1 | g.115732965G>A | CA341769070 | CASQ2 | c.266C>T (p.Ala89Val) c.542C>T (p.Ala181Val) | gnomAD v4 |
1 | g.115732965G>C | CA341769071 | CASQ2 | c.266C>G (p.Ala89Gly) c.542C>G (p.Ala181Gly) | |
1 | g.115732965G>T | CA341769072 | CASQ2 | c.266C>A (p.Ala89Asp) c.542C>A (p.Ala181Asp) | gnomAD v4 |
1 | g.115732965_115732966delinsGC | CA1190726936 | CASQ2 | c.265_266delinsGC (p.Ala89=) c.541_542delinsGC (p.Ala181=) | |
1 | g.115732966C>A | CA341769073 | CASQ2 | c.265G>T (p.Ala89Ser) c.541G>T (p.Ala181Ser) | COSMIC |
1 | g.115732966C= | CA1148268361 | CASQ2 | c.265G= (p.Ala89=) c.541G= (p.Ala181=) | |
1 | g.115732966C>G | CA1023870 | CASQ2 | c.265G>C (p.Ala89Pro) c.541G>C (p.Ala181Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115732966C>T | CA1023871 | CASQ2 | c.265G>A (p.Ala89Thr) c.541G>A (p.Ala181Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |