Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.54164452C>A | CA409391853 | CYP24A1 | c.844G>T (p.Val282Phe) c.418G>T (p.Val140Phe) n.97G>T | |
20 | g.54164452C>G | CA409391851 | CYP24A1 | c.844G>C (p.Val282Leu) c.418G>C (p.Val140Leu) n.97G>C | |
20 | g.54164452C>T | CA409391852 | CYP24A1 | c.844G>A (p.Val282Ile) c.418G>A (p.Val140Ile) n.97G>A | |
20 | g.54164453T>A | CA510909817 | CYP24A1 | c.843A>T (p.Ser281=) c.417A>T (p.Ser139=) n.96A>T | |
20 | g.54164453T>C | CA510909818 | CYP24A1 | c.843A>G (p.Ser281=) c.417A>G (p.Ser139=) n.96A>G | |
20 | g.54164453T>G | CA510909819 | CYP24A1 | c.843A>C (p.Ser281=) c.417A>C (p.Ser139=) n.96A>C | |
20 | g.54164454G>A | CA409391854 | CYP24A1 | c.842C>T (p.Ser281Leu) c.416C>T (p.Ser139Leu) n.95C>T | |
20 | g.54164454G>C | CA9915991 | CYP24A1 | c.842C>G (p.Ser281Ter) c.416C>G (p.Ser139Ter) n.95C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164454G= | CA2370267478 | CYP24A1 | c.842C= (p.Ser281=) c.416C= (p.Ser139=) n.95C= | |
20 | g.54164454G>T | CA409391855 | CYP24A1 | c.842C>A (p.Ser281Ter) c.416C>A (p.Ser139Ter) n.95C>A | |
20 | g.54164455A>C | CA409391856 | CYP24A1 | c.841T>G (p.Ser281Ala) c.415T>G (p.Ser139Ala) n.94T>G | |
20 | g.54164455A>G | CA409391857 | CYP24A1 | c.841T>C (p.Ser281Pro) c.415T>C (p.Ser139Pro) n.94T>C | |
20 | g.54164455A>T | CA409391858 | CYP24A1 | c.841T>A (p.Ser281Thr) c.415T>A (p.Ser139Thr) n.94T>A | |
20 | g.54164456T>A | CA409391859 | CYP24A1 | c.840A>T (p.Lys280Asn) c.414A>T (p.Lys138Asn) n.93A>T | |
20 | g.54164456T>C | CA9915993 | CYP24A1 | c.840A>G (p.Lys280=) c.414A>G (p.Lys138=) n.93A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164456T>G | CA9915992 | CYP24A1 | c.840A>C (p.Lys280Asn) c.414A>C (p.Lys138Asn) n.93A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164456T= | CA2370267479 | CYP24A1 | c.840A= (p.Lys280=) c.414A= (p.Lys138=) n.93A= | |
20 | g.54164457T>A | CA409391860 | CYP24A1 | c.839A>T (p.Lys280Ile) c.413A>T (p.Lys138Ile) n.92A>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.54164457T>C | CA409391861 | CYP24A1 | c.839A>G (p.Lys280Arg) c.413A>G (p.Lys138Arg) n.92A>G | |
20 | g.54164457T>G | CA409391862 | CYP24A1 | c.839A>C (p.Lys280Thr) c.413A>C (p.Lys138Thr) n.92A>C | |
20 | g.54164457T= | CA2370267480 | CYP24A1 | c.839A= (p.Lys280=) c.413A= (p.Lys138=) n.92A= | |
20 | g.54164458T>A | CA409391864 | CYP24A1 | c.838A>T (p.Lys280Ter) c.412A>T (p.Lys138Ter) n.91A>T | |
20 | g.54164458T>C | CA409391865 | CYP24A1 | c.838A>G (p.Lys280Glu) c.412A>G (p.Lys138Glu) n.91A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.54164458T>G | CA409391863 | CYP24A1 | c.838A>C (p.Lys280Gln) c.412A>C (p.Lys138Gln) n.91A>C | |
20 | g.54164458T= | CA2370267481 | CYP24A1 | c.838A= (p.Lys280=) c.412A= (p.Lys138=) n.91A= | |
20 | g.54164459G>A | CA510909820 | CYP24A1 | c.837C>T (p.Phe279=) c.411C>T (p.Phe137=) n.90C>T | |
20 | g.54164459G>C | CA409391866 | CYP24A1 | c.837C>G (p.Phe279Leu) c.411C>G (p.Phe137Leu) n.90C>G | |
20 | g.54164459G>T | CA409391867 | CYP24A1 | c.837C>A (p.Phe279Leu) c.411C>A (p.Phe137Leu) n.90C>A | |
20 | g.54164460A>C | CA409391868 | CYP24A1 | c.836T>G (p.Phe279Cys) c.410T>G (p.Phe137Cys) n.89T>G | |
20 | g.54164460A>G | CA409391869 | CYP24A1 | c.836T>C (p.Phe279Ser) c.410T>C (p.Phe137Ser) n.89T>C | |
20 | g.54164460A>T | CA409391870 | CYP24A1 | c.836T>A (p.Phe279Tyr) c.410T>A (p.Phe137Tyr) n.89T>A | |
20 | g.54164461A>C | CA409391871 | CYP24A1 | c.835T>G (p.Phe279Val) c.409T>G (p.Phe137Val) n.88T>G | |
20 | g.54164461A>G | CA409391872 | CYP24A1 | c.835T>C (p.Phe279Leu) c.409T>C (p.Phe137Leu) n.88T>C | |
20 | g.54164461A>T | CA409391873 | CYP24A1 | c.835T>A (p.Phe279Ile) c.409T>A (p.Phe137Ile) n.88T>A | |
20 | g.54164462A>C | CA409391874 | CYP24A1 | c.834T>G (p.Ile278Met) c.408T>G (p.Ile136Met) n.87T>G | |
20 | g.54164462A>G | CA510909821 | CYP24A1 | c.834T>C (p.Ile278=) c.408T>C (p.Ile136=) n.87T>C | |
20 | g.54164462A>T | CA510909822 | CYP24A1 | c.834T>A (p.Ile278=) c.408T>A (p.Ile136=) n.87T>A | |
20 | g.54164463A= | CA2370267482 | CYP24A1 | c.833T= (p.Ile278=) c.407T= (p.Ile136=) n.86T= | |
20 | g.54164463A>C | CA409391875 | CYP24A1 | c.833T>G (p.Ile278Ser) c.407T>G (p.Ile136Ser) n.86T>G | |
20 | g.54164463A>G | CA409391876 | CYP24A1 | c.833T>C (p.Ile278Thr) c.407T>C (p.Ile136Thr) n.86T>C | ClinVar dbSNP gnomAD v4 |
20 | g.54164463A>T | CA409391877 | CYP24A1 | c.833T>A (p.Ile278Asn) c.407T>A (p.Ile136Asn) n.86T>A | gnomAD v4 |
20 | g.54164464T>A | CA409391878 | CYP24A1 | c.832A>T (p.Ile278Phe) c.406A>T (p.Ile136Phe) n.85A>T | |
20 | g.54164464T>C | CA409391879 | CYP24A1 | c.832A>G (p.Ile278Val) c.406A>G (p.Ile136Val) n.85A>G | dbSNP |
20 | g.54164464T>G | CA409391880 | CYP24A1 | c.832A>C (p.Ile278Leu) c.406A>C (p.Ile136Leu) n.85A>C | |
20 | g.54164464T= | CA2370267483 | CYP24A1 | c.832A= (p.Ile278=) c.406A= (p.Ile136=) n.85A= | |
20 | g.54164465G>A | CA9915994 | CYP24A1 | c.831C>T (p.Thr277=) c.405C>T (p.Thr135=) n.84C>T | dbSNP ExAC gnomAD v2 |
20 | g.54164465G>C | CA510909823 | CYP24A1 | c.831C>G (p.Thr277=) c.405C>G (p.Thr135=) n.84C>G | |
20 | g.54164465G= | CA2370267484 | CYP24A1 | c.831C= (p.Thr277=) c.405C= (p.Thr135=) n.84C= | |
20 | g.54164465G>T | CA510909824 | CYP24A1 | c.831C>A (p.Thr277=) c.405C>A (p.Thr135=) n.84C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.54164466G>A | CA409391881 | CYP24A1 | c.830C>T (p.Thr277Ile) c.404C>T (p.Thr135Ile) n.83C>T | dbSNP |