| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115738253A= | CA1142216372 | CASQ2 | c.227T= (p.Ile76=) c.503T= (p.Ile168=) | |
| 1 | g.115738253A>C | CA341763845 | CASQ2 | c.227T>G (p.Ile76Ser) c.503T>G (p.Ile168Ser) | |
| 1 | g.115738253A>G | CA301894 | CASQ2 | c.227T>C (p.Ile76Thr) c.503T>C (p.Ile168Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738253A>T | CA341763846 | CASQ2 | c.227T>A (p.Ile76Asn) c.503T>A (p.Ile168Asn) | |
| 1 | g.115738254T>A | CA341763849 | CASQ2 | c.226A>T (p.Ile76Phe) c.502A>T (p.Ile168Phe) | |
| 1 | g.115738254T>C | CA341763847 | CASQ2 | c.226A>G (p.Ile76Val) c.502A>G (p.Ile168Val) | COSMIC |
| 1 | g.115738254T>G | CA341763848 | CASQ2 | c.226A>C (p.Ile76Leu) c.502A>C (p.Ile168Leu) | gnomAD v4 |
| 1 | g.115738255G>A | CA419895485 | CASQ2 | c.225C>T (p.Leu75=) c.501C>T (p.Leu167=) | |
| 1 | g.115738255G>C | CA1023893 | CASQ2 | c.225C>G (p.Leu75=) c.501C>G (p.Leu167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738255G= | CA1142092272 | CASQ2 | c.225C= (p.Leu75=) c.501C= (p.Leu167=) | |
| 1 | g.115738255G>T | CA419895486 | CASQ2 | c.225C>A (p.Leu75=) c.501C>A (p.Leu167=) | |
| 1 | g.115738256A= | CA1141581000 | CASQ2 | c.224T= (p.Leu75=) c.500T= (p.Leu167=) | |
| 1 | g.115738256A>C | CA341763850 | CASQ2 | c.224T>G (p.Leu75Arg) c.500T>G (p.Leu167Arg) | |
| 1 | g.115738256A>G | CA341763851 | CASQ2 | c.224T>C (p.Leu75Pro) c.500T>C (p.Leu167Pro) | |
| 1 | g.115738256A>T | CA258048 | CASQ2 | c.224T>A (p.Leu75His) c.500T>A (p.Leu167His) | ClinVar dbSNP gnomAD v4 |
| 1 | g.115738257G>A | CA341763852 | CASQ2 | c.223C>T (p.Leu75Phe) c.499C>T (p.Leu167Phe) | |
| 1 | g.115738257G>C | CA341763853 | CASQ2 | c.223C>G (p.Leu75Val) c.499C>G (p.Leu167Val) | |
| 1 | g.115738257G>T | CA341763854 | CASQ2 | c.223C>A (p.Leu75Ile) c.499C>A (p.Leu167Ile) | |
| 1 | g.115738258T>A | CA341763855 | CASQ2 | c.222A>T (p.Lys74Asn) c.498A>T (p.Lys166Asn) | ClinVar dbSNP |
| 1 | g.115738258T>C | CA419895487 | CASQ2 | c.222A>G (p.Lys74=) c.498A>G (p.Lys166=) | |
| 1 | g.115738258T>G | CA341763856 | CASQ2 | c.222A>C (p.Lys74Asn) c.498A>C (p.Lys166Asn) | |
| 1 | g.115738259T>A | CA341763857 | CASQ2 | c.221A>T (p.Lys74Ile) c.497A>T (p.Lys166Ile) | |
| 1 | g.115738259T>C | CA341763858 | CASQ2 | c.221A>G (p.Lys74Arg) c.497A>G (p.Lys166Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115738259T>G | CA341763859 | CASQ2 | c.221A>C (p.Lys74Thr) c.497A>C (p.Lys166Thr) | |
| 1 | g.115738259T= | CA1190729268 | CASQ2 | c.221A= (p.Lys74=) c.497A= (p.Lys166=) | |
| 1 | g.115738260T>A | CA341763860 | CASQ2 | c.220A>T (p.Lys74Ter) c.496A>T (p.Lys166Ter) | |
| 1 | g.115738260T>C | CA341763861 | CASQ2 | c.220A>G (p.Lys74Glu) c.496A>G (p.Lys166Glu) | gnomAD v4 |
| 1 | g.115738260T>G | CA1023894 | CASQ2 | c.220A>C (p.Lys74Gln) c.496A>C (p.Lys166Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738260T= | CA1190729269 | CASQ2 | c.220A= (p.Lys74=) c.496A= (p.Lys166=) | |
| 1 | g.115738261G>A | CA419895488 | CASQ2 | c.219C>T (p.Ile73=) c.495C>T (p.Ile165=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115738261G>C | CA341763862 | CASQ2 | c.219C>G (p.Ile73Met) c.495C>G (p.Ile165Met) | |
| 1 | g.115738261G= | CA1190729270 | CASQ2 | c.219C= (p.Ile73=) c.495C= (p.Ile165=) | |
| 1 | g.115738261G>T | CA419895489 | CASQ2 | c.219C>A (p.Ile73=) c.495C>A (p.Ile165=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115738262A>C | CA341763863 | CASQ2 | c.218T>G (p.Ile73Ser) c.494T>G (p.Ile165Ser) | |
| 1 | g.115738262A>G | CA341763864 | CASQ2 | c.218T>C (p.Ile73Thr) c.494T>C (p.Ile165Thr) | |
| 1 | g.115738262A>T | CA341763865 | CASQ2 | c.218T>A (p.Ile73Asn) c.494T>A (p.Ile165Asn) | |
| 1 | g.115738263T>A | CA341763866 | CASQ2 | c.217A>T (p.Ile73Phe) c.493A>T (p.Ile165Phe) | |
| 1 | g.115738263T>C | CA341763867 | CASQ2 | c.217A>G (p.Ile73Val) c.493A>G (p.Ile165Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115738263T>G | CA341763868 | CASQ2 | c.217A>C (p.Ile73Leu) c.493A>C (p.Ile165Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115738263T= | CA1190729271 | CASQ2 | c.217A= (p.Ile73=) c.493A= (p.Ile165=) | |
| 1 | g.115738264G>A | CA10586707 | CASQ2 | c.216C>T (p.Tyr72=) c.492C>T (p.Tyr164=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738264G>C | CA341763869 | CASQ2 | c.216C>G (p.Tyr72Ter) c.492C>G (p.Tyr164Ter) | |
| 1 | g.115738264G= | CA1190729272 | CASQ2 | c.216C= (p.Tyr72=) c.492C= (p.Tyr164=) | |
| 1 | g.115738264G>T | CA341763870 | CASQ2 | c.216C>A (p.Tyr72Ter) c.492C>A (p.Tyr164Ter) | |
| 1 | g.115738265T>A | CA341763871 | CASQ2 | c.215A>T (p.Tyr72Phe) c.491A>T (p.Tyr164Phe) | |
| 1 | g.115738265T>C | CA1023895 | CASQ2 | c.215A>G (p.Tyr72Cys) c.491A>G (p.Tyr164Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738265T>G | CA341763872 | CASQ2 | c.215A>C (p.Tyr72Ser) c.491A>C (p.Tyr164Ser) | |
| 1 | g.115738265T= | CA1140803106 | CASQ2 | c.215A= (p.Tyr72=) c.491A= (p.Tyr164=) | |
| 1 | g.115738266A= | CA1190729273 | CASQ2 | c.214T= (p.Tyr72=) c.490T= (p.Tyr164=) | |
| 1 | g.115738266A>C | CA341763873 | CASQ2 | c.214T>G (p.Tyr72Asp) c.490T>G (p.Tyr164Asp) |