Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.115738266A>G | CA341763875 | CASQ2 | c.214T>C (p.Tyr72His) c.490T>C (p.Tyr164His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.115738266A>T | CA341763874 | CASQ2 | c.214T>A (p.Tyr72Asn) c.490T>A (p.Tyr164Asn) | |
1 | g.115738267G>A | CA419895490 | CASQ2 | c.213C>T (p.Asp71=) c.489C>T (p.Asp163=) | |
1 | g.115738267G>C | CA341763876 | CASQ2 | c.213C>G (p.Asp71Glu) c.489C>G (p.Asp163Glu) | |
1 | g.115738267G>T | CA341763877 | CASQ2 | c.213C>A (p.Asp71Glu) c.489C>A (p.Asp163Glu) | |
1 | g.115738268T>A | CA1023896 | CASQ2 | c.212A>T (p.Asp71Val) c.488A>T (p.Asp163Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115738268T>C | CA341763878 | CASQ2 | c.212A>G (p.Asp71Gly) c.488A>G (p.Asp163Gly) | |
1 | g.115738268T>G | CA341763879 | CASQ2 | c.212A>C (p.Asp71Ala) c.488A>C (p.Asp163Ala) | |
1 | g.115738268T= | CA1190729274 | CASQ2 | c.212A= (p.Asp71=) c.488A= (p.Asp163=) | |
1 | g.115738269C>A | CA341763880 | CASQ2 | c.211G>T (p.Asp71Tyr) c.487G>T (p.Asp163Tyr) | |
1 | g.115738269C>G | CA341763881 | CASQ2 | c.211G>C (p.Asp71His) c.487G>C (p.Asp163His) | COSMIC |
1 | g.115738269C>T | CA341763882 | CASQ2 | c.211G>A (p.Asp71Asn) c.487G>A (p.Asp163Asn) | ClinVar |
1 | g.115738270T>A | CA341763883 | CASQ2 | c.210A>T (p.Glu70Asp) c.486A>T (p.Glu162Asp) | |
1 | g.115738270T>C | CA419895491 | CASQ2 | c.210A>G (p.Glu70=) c.486A>G (p.Glu162=) | dbSNP |
1 | g.115738270T>G | CA341763884 | CASQ2 | c.210A>C (p.Glu70Asp) c.486A>C (p.Glu162Asp) |