| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115732958_115732965delinsTTCAAAAG | CA1190726931 | CASQ2 | c.266_273delinsCTTTTGAA (p.Ala89=) c.542_549delinsCTTTTGAA (p.Ala181=) | |
| 1 | g.115732959_115732965del | CA1023867 | CASQ2 | c.266_272del (p.Ala89GlufsTer27) c.542_548del (p.Ala181GlufsTer27) | 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 |
| 1 | g.115732967del | CA1023869 | CASQ2 | c.265del (p.Ala89LeufsTer29) c.541del (p.Ala181LeufsTer29) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.115732967C>A | CA341769075 | CASQ2 | c.264G>T (p.Lys88Asn) c.540G>T (p.Lys180Asn) | |
| 1 | g.115732967C= | CA1140803105 | CASQ2 | c.264G= (p.Lys88=) c.540G= (p.Lys180=) | |
| 1 | g.115732967C>G | CA341769074 | CASQ2 | c.264G>C (p.Lys88Asn) c.540G>C (p.Lys180Asn) | |
| 1 | g.115732967C>T | CA181171 | CASQ2 | c.264G>A (p.Lys88=) c.540G>A (p.Lys180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115732968T>A | CA341769076 | CASQ2 | c.263A>T (p.Lys88Met) c.539A>T (p.Lys180Met) | |
| 1 | g.115732968T>C | CA10588840 | CASQ2 | c.263A>G (p.Lys88Arg) c.539A>G (p.Lys180Arg) | ClinVar dbSNP |
| 1 | g.115732968T>G | CA341769077 | CASQ2 | c.263A>C (p.Lys88Thr) c.539A>C (p.Lys180Thr) | COSMIC |
| 1 | g.115732968T= | CA1190726937 | CASQ2 | c.263A= (p.Lys88=) c.539A= (p.Lys180=) | |
| 1 | g.115732969T>A | CA341769078 | CASQ2 | c.262A>T (p.Lys88Ter) c.538A>T (p.Lys180Ter) | |
| 1 | g.115732969T>C | CA341769079 | CASQ2 | c.262A>G (p.Lys88Glu) c.538A>G (p.Lys180Glu) | |
| 1 | g.115732969T>G | CA341769080 | CASQ2 | c.262A>C (p.Lys88Gln) c.538A>C (p.Lys180Gln) | ClinVar |
| 1 | g.115732970G>A | CA419896094 | CASQ2 | c.261C>T (p.Tyr87=) c.537C>T (p.Tyr179=) | |
| 1 | g.115732970G>C | CA341769081 | CASQ2 | c.261C>G (p.Tyr87Ter) c.537C>G (p.Tyr179Ter) | |
| 1 | g.115732970G>T | CA341769082 | CASQ2 | c.261C>A (p.Tyr87Ter) c.537C>A (p.Tyr179Ter) | ClinVar gnomAD v4 |
| 1 | g.115732971T>A | CA341769083 | CASQ2 | c.260A>T (p.Tyr87Phe) c.536A>T (p.Tyr179Phe) | |
| 1 | g.115732971T>C | CA341769084 | CASQ2 | c.260A>G (p.Tyr87Cys) c.536A>G (p.Tyr179Cys) | |
| 1 | g.115732971T>G | CA341769085 | CASQ2 | c.260A>C (p.Tyr87Ser) c.536A>C (p.Tyr179Ser) | |
| 1 | g.115732972A>C | CA341769086 | CASQ2 | c.259T>G (p.Tyr87Asp) c.535T>G (p.Tyr179Asp) | |
| 1 | g.115732972A>G | CA341769088 | CASQ2 | c.259T>C (p.Tyr87His) c.535T>C (p.Tyr179His) | |
| 1 | g.115732972A>T | CA341769087 | CASQ2 | c.259T>A (p.Tyr87Asn) c.535T>A (p.Tyr179Asn) | |
| 1 | g.115732973G>A | CA419896107 | CASQ2 | c.258C>T (p.Tyr86=) c.534C>T (p.Tyr178=) | |
| 1 | g.115732973G>C | CA341769089 | CASQ2 | c.258C>G (p.Tyr86Ter) c.534C>G (p.Tyr178Ter) | |
| 1 | g.115732973G>T | CA341769090 | CASQ2 | c.258C>A (p.Tyr86Ter) c.534C>A (p.Tyr178Ter) |