Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.115732931G>A | CA1023864 | CASQ2 | c.300C>T (p.Tyr100=) c.576C>T (p.Tyr192=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115732931G>C | CA341768993 | CASQ2 | c.300C>G (p.Tyr100Ter) c.576C>G (p.Tyr192Ter) | |
1 | g.115732931G= | CA1190726924 | CASQ2 | c.300C= (p.Tyr100=) c.576C= (p.Tyr192=) | |
1 | g.115732931G>T | CA341768994 | CASQ2 | c.300C>A (p.Tyr100Ter) c.576C>A (p.Tyr192Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115732932T>A | CA341768995 | CASQ2 | c.299A>T (p.Tyr100Phe) c.575A>T (p.Tyr192Phe) | |
1 | g.115732932T>C | CA341768996 | CASQ2 | c.299A>G (p.Tyr100Cys) c.575A>G (p.Tyr192Cys) | |
1 | g.115732932T>G | CA341768997 | CASQ2 | c.299A>C (p.Tyr100Ser) c.575A>C (p.Tyr192Ser) | |
1 | g.115732933A>C | CA341768998 | CASQ2 | c.298T>G (p.Tyr100Asp) c.574T>G (p.Tyr192Asp) | gnomAD v4 |
1 | g.115732933A>G | CA341768999 | CASQ2 | c.298T>C (p.Tyr100His) c.574T>C (p.Tyr192His) | |
1 | g.115732933A>T | CA341769000 | CASQ2 | c.298T>A (p.Tyr100Asn) c.574T>A (p.Tyr192Asn) | |
1 | g.115732934A>C | CA419896047 | CASQ2 | c.297T>G (p.Pro99=) c.573T>G (p.Pro191=) | |
1 | g.115732934A>G | CA419896048 | CASQ2 | c.297T>C (p.Pro99=) c.573T>C (p.Pro191=) | |
1 | g.115732934A>T | CA419896049 | CASQ2 | c.297T>A (p.Pro99=) c.573T>A (p.Pro191=) | |
1 | g.115732935G>A | CA341769001 | CASQ2 | c.296C>T (p.Pro99Leu) c.572C>T (p.Pro191Leu) | gnomAD v4 COSMIC |
1 | g.115732935G>C | CA341769002 | CASQ2 | c.296C>G (p.Pro99Arg) c.572C>G (p.Pro191Arg) | |
1 | g.115732935G>T | CA341769003 | CASQ2 | c.296C>A (p.Pro99His) c.572C>A (p.Pro191His) | COSMIC |
1 | g.115732936G>A | CA341769006 | CASQ2 | c.295C>T (p.Pro99Ser) c.571C>T (p.Pro191Ser) | |
1 | g.115732936G>C | CA341769004 | CASQ2 | c.295C>G (p.Pro99Ala) c.571C>G (p.Pro191Ala) | |
1 | g.115732936G>T | CA341769005 | CASQ2 | c.295C>A (p.Pro99Thr) c.571C>A (p.Pro191Thr) | |
1 | g.115732937C>A | CA341769007 | CASQ2 | c.294G>T (p.Gln98His) c.570G>T (p.Gln190His) | |
1 | g.115732937C>G | CA341769008 | CASQ2 | c.294G>C (p.Gln98His) c.570G>C (p.Gln190His) | |
1 | g.115732937C>T | CA419896050 | CASQ2 | c.294G>A (p.Gln98=) c.570G>A (p.Gln190=) | gnomAD v4 |
1 | g.115732938T>A | CA341769009 | CASQ2 | c.293A>T (p.Gln98Leu) c.569A>T (p.Gln190Leu) | |
1 | g.115732938T>C | CA341769010 | CASQ2 | c.293A>G (p.Gln98Arg) c.569A>G (p.Gln190Arg) | dbSNP |
1 | g.115732938T>G | CA341769011 | CASQ2 | c.293A>C (p.Gln98Pro) c.569A>C (p.Gln190Pro) | |
1 | g.115732938T= | CA1190726925 | CASQ2 | c.293A= (p.Gln98=) c.569A= (p.Gln190=) | |
1 | g.115732939G>A | CA341769012 | CASQ2 | c.292C>T (p.Gln98Ter) c.568C>T (p.Gln190Ter) | |
1 | g.115732939G>C | CA341769013 | CASQ2 | c.292C>G (p.Gln98Glu) c.568C>G (p.Gln190Glu) | |
1 | g.115732939G>T | CA341769014 | CASQ2 | c.292C>A (p.Gln98Lys) c.568C>A (p.Gln190Lys) | |
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) |