| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115732940G>A | CA419896051 | CASQ2 | c.291C>T (p.Phe97=) c.567C>T (p.Phe189=) | gnomAD v4 COSMIC |
| 1 | g.115732940G>C | CA175364 | CASQ2 | c.291C>G (p.Phe97Leu) c.567C>G (p.Phe189Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115732940G= | CA1142129946 | CASQ2 | c.291C= (p.Phe97=) c.567C= (p.Phe189=) | |
| 1 | g.115732940G>T | CA341769015 | CASQ2 | c.291C>A (p.Phe97Leu) c.567C>A (p.Phe189Leu) | |
| 1 | g.115732941A= | CA1190726926 | CASQ2 | c.290T= (p.Phe97=) c.566T= (p.Phe189=) | |
| 1 | g.115732941A>C | CA341769016 | CASQ2 | c.290T>G (p.Phe97Cys) c.566T>G (p.Phe189Cys) | |
| 1 | g.115732941A>G | CA341769017 | CASQ2 | c.290T>C (p.Phe97Ser) c.566T>C (p.Phe189Ser) | dbSNP |
| 1 | g.115732941A>T | CA341769018 | CASQ2 | c.290T>A (p.Phe97Tyr) c.566T>A (p.Phe189Tyr) | gnomAD v4 |
| 1 | g.115732942A>C | CA341769021 | CASQ2 | c.289T>G (p.Phe97Val) c.565T>G (p.Phe189Val) | |
| 1 | g.115732942A>G | CA341769020 | CASQ2 | c.289T>C (p.Phe97Leu) c.565T>C (p.Phe189Leu) | |
| 1 | g.115732942A>T | CA341769019 | CASQ2 | c.289T>A (p.Phe97Ile) c.565T>A (p.Phe189Ile) | gnomAD v4 |
| 1 | g.115732943G>A | CA419896052 | CASQ2 | c.288C>T (p.His96=) c.564C>T (p.His188=) | ClinVar |
| 1 | g.115732943G>C | CA341769022 | CASQ2 | c.288C>G (p.His96Gln) c.564C>G (p.His188Gln) | |
| 1 | g.115732943G>T | CA341769023 | CASQ2 | c.288C>A (p.His96Gln) c.564C>A (p.His188Gln) | |
| 1 | g.115732944T>A | CA341769024 | CASQ2 | c.287A>T (p.His96Leu) c.563A>T (p.His188Leu) | |
| 1 | g.115732944T>C | CA1023865 | CASQ2 | c.287A>G (p.His96Arg) c.563A>G (p.His188Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115732944T>G | CA341769025 | CASQ2 | c.287A>C (p.His96Pro) c.563A>C (p.His188Pro) | |
| 1 | g.115732944T= | CA1148450026 | CASQ2 | c.287A= (p.His96=) c.563A= (p.His188=) | |
| 1 | g.115732945G>A | CA341769026 | CASQ2 | c.286C>T (p.His96Tyr) c.562C>T (p.His188Tyr) | ClinVar gnomAD v4 |
| 1 | g.115732945G>C | CA341769027 | CASQ2 | c.286C>G (p.His96Asp) c.562C>G (p.His188Asp) | |
| 1 | g.115732945G>T | CA341769028 | CASQ2 | c.286C>A (p.His96Asn) c.562C>A (p.His188Asn) | |
| 1 | g.115732946T>A | CA341769029 | CASQ2 | c.285A>T (p.Glu95Asp) c.561A>T (p.Glu187Asp) | |
| 1 | g.115732946T>C | CA419896053 | CASQ2 | c.285A>G (p.Glu95=) c.561A>G (p.Glu187=) | |
| 1 | g.115732946T>G | CA341769030 | CASQ2 | c.285A>C (p.Glu95Asp) c.561A>C (p.Glu187Asp) | |
| 1 | g.115732947T>A | CA341769031 | CASQ2 | c.284A>T (p.Glu95Val) c.560A>T (p.Glu187Val) | |
| 1 | g.115732947T>C | CA341769032 | CASQ2 | c.284A>G (p.Glu95Gly) c.560A>G (p.Glu187Gly) | |
| 1 | g.115732947T>G | CA341769033 | CASQ2 | c.284A>C (p.Glu95Ala) c.560A>C (p.Glu187Ala) | |
| 1 | g.115732948C>A | CA341769035 | CASQ2 | c.283G>T (p.Glu95Ter) c.559G>T (p.Glu187Ter) | |
| 1 | g.115732948C>G | CA341769036 | CASQ2 | c.283G>C (p.Glu95Gln) c.559G>C (p.Glu187Gln) | |
| 1 | g.115732948C>T | CA341769034 | CASQ2 | c.283G>A (p.Glu95Lys) c.559G>A (p.Glu187Lys) | |
| 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) |