Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.54164423_54164432del | CA2653396846 | CYP24A1 | c.844+28_844+37del (n.844+28_844+37del) c.418+28_418+37del (n.418+28_418+37del) n.97+28_97+37del | gnomAD v4 |
20 | g.54164417C>A | CA9915982 | CYP24A1 | c.844+35G>T (n.844+35G>T) c.418+35G>T (n.418+35G>T) n.97+35G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164417C= | CA2370267461 | CYP24A1 | c.844+35G= (n.844+35G=) c.418+35G= (n.418+35G=) n.97+35G= | |
20 | g.54164417C>G | CA9915981 | CYP24A1 | c.844+35G>C (n.844+35G>C) c.418+35G>C (n.418+35G>C) n.97+35G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.54164419G>A | CA2653396853 | CYP24A1 | c.844+33C>T (n.844+33C>T) c.418+33C>T (n.418+33C>T) n.97+33C>T | gnomAD v4 |
20 | g.54164419G>C | CA2653396852 | CYP24A1 | c.844+33C>G (n.844+33C>G) c.418+33C>G (n.418+33C>G) n.97+33C>G | gnomAD v4 |
20 | g.54164420G>A | CA2653396856 | CYP24A1 | c.844+32C>T (n.844+32C>T) c.418+32C>T (n.418+32C>T) n.97+32C>T | gnomAD v4 |
20 | g.54164420G>C | CA9915983 | CYP24A1 | c.844+32C>G (n.844+32C>G) c.418+32C>G (n.418+32C>G) n.97+32C>G | dbSNP ExAC gnomAD v2 |
20 | g.54164420G= | CA2370267462 | CYP24A1 | c.844+32C= (n.844+32C=) c.418+32C= (n.418+32C=) n.97+32C= | |
20 | g.54164420G>T | CA635819114 | CYP24A1 | c.844+32C>A (n.844+32C>A) c.418+32C>A (n.418+32C>A) n.97+32C>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.54164424T>C | CA2653396858 | CYP24A1 | c.844+28A>G (n.844+28A>G) c.418+28A>G (n.418+28A>G) n.97+28A>G | gnomAD v4 |
20 | g.54164427C>T | CA2653396860 | CYP24A1 | c.844+25G>A (n.844+25G>A) c.418+25G>A (n.418+25G>A) n.97+25G>A | gnomAD v4 |
20 | g.54164428T>C | CA9915984 | CYP24A1 | c.844+24A>G (n.844+24A>G) c.418+24A>G (n.418+24A>G) n.97+24A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164428T= | CA2370267463 | CYP24A1 | c.844+24A= (n.844+24A=) c.418+24A= (n.418+24A=) n.97+24A= | |
20 | g.54164430G>A | CA2653396866 | CYP24A1 | c.844+22C>T (n.844+22C>T) c.418+22C>T (n.418+22C>T) n.97+22C>T | gnomAD v4 |
20 | g.54164431T>C | CA2653396867 | CYP24A1 | c.844+21A>G (n.844+21A>G) c.418+21A>G (n.418+21A>G) n.97+21A>G | gnomAD v4 |
20 | g.54164433G>A | CA9915985 | CYP24A1 | c.844+19C>T (n.844+19C>T) c.418+19C>T (n.418+19C>T) n.97+19C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164433G= | CA2370267464 | CYP24A1 | c.844+19C= (n.844+19C=) c.418+19C= (n.418+19C=) n.97+19C= | |
20 | g.54164434T>C | CA9915986 | CYP24A1 | c.844+18A>G (n.844+18A>G) c.418+18A>G (n.418+18A>G) n.97+18A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164434T= | CA2370267465 | CYP24A1 | c.844+18A= (n.844+18A=) c.418+18A= (n.418+18A=) n.97+18A= | |
20 | g.54164435G>C | CA2653396871 | CYP24A1 | c.844+17C>G (n.844+17C>G) c.418+17C>G (n.418+17C>G) n.97+17C>G | gnomAD v4 |
20 | g.54164438G>A | CA316157239 | CYP24A1 | c.844+14C>T (n.844+14C>T) c.418+14C>T (n.418+14C>T) n.97+14C>T | dbSNP |
20 | g.54164438G= | CA2370267466 | CYP24A1 | c.844+14C= (n.844+14C=) c.418+14C= (n.418+14C=) n.97+14C= | |
20 | g.54164439G>A | CA9915987 | CYP24A1 | c.844+13C>T (n.844+13C>T) c.418+13C>T (n.418+13C>T) n.97+13C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.54164439G= | CA2370267467 | CYP24A1 | c.844+13C= (n.844+13C=) c.418+13C= (n.418+13C=) n.97+13C= | |
20 | g.54164442_54164444del | CA2816735910 | CYP24A1 | c.844+11_844+13del (n.844+11_844+13del) c.418+11_418+13del (n.418+11_418+13del) n.97+11_97+13del | |
20 | g.54164440G>A | CA2577429837 | CYP24A1 | c.844+12C>T (n.844+12C>T) c.418+12C>T (n.418+12C>T) n.97+12C>T | dbSNP |
20 | g.54164440G= | CA2370267468 | CYP24A1 | c.844+12C= (n.844+12C=) c.418+12C= (n.418+12C=) n.97+12C= | |
20 | g.54164440G>T | CA635819115 | CYP24A1 | c.844+12C>A (n.844+12C>A) c.418+12C>A (n.418+12C>A) n.97+12C>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.54164441C= | CA2370267469 | CYP24A1 | c.844+11G= (n.844+11G=) c.418+11G= (n.418+11G=) n.97+11G= | |
20 | g.54164441C>G | CA2370267470 | CYP24A1 | c.844+11G>C (n.844+11G>C) c.418+11G>C (n.418+11G>C) n.97+11G>C | dbSNP |
20 | g.54164441C>T | CA9915988 | CYP24A1 | c.844+11G>A (n.844+11G>A) c.418+11G>A (n.418+11G>A) n.97+11G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164442G>A | CA635819116 | CYP24A1 | c.844+10C>T (n.844+10C>T) c.418+10C>T (n.418+10C>T) n.97+10C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164442G= | CA2370267471 | CYP24A1 | c.844+10C= (n.844+10C=) c.418+10C= (n.418+10C=) n.97+10C= | |
20 | g.54164443del | CA2653396875 | CYP24A1 | c.844+10del (n.844+10del) c.418+10del (n.418+10del) n.97+10del | gnomAD v4 |
20 | g.54164443G>A | CA1018566690 | CYP24A1 | c.844+9C>T (n.844+9C>T) c.418+9C>T (n.418+9C>T) n.97+9C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.54164443G= | CA2370267472 | CYP24A1 | c.844+9C= (n.844+9C=) c.418+9C= (n.418+9C=) n.97+9C= | |
20 | g.54164444C>A | CA2370267474 | CYP24A1 | c.844+8G>T (n.844+8G>T) c.418+8G>T (n.418+8G>T) n.97+8G>T | dbSNP |
20 | g.54164444C= | CA2370267473 | CYP24A1 | c.844+8G= (n.844+8G=) c.418+8G= (n.418+8G=) n.97+8G= | |
20 | g.54164444C>T | CA2653396876 | CYP24A1 | c.844+8G>A (n.844+8G>A) c.418+8G>A (n.418+8G>A) n.97+8G>A | gnomAD v4 |
20 | g.54164445C>A | CA2653396877 | CYP24A1 | c.844+7G>T (n.844+7G>T) c.418+7G>T (n.418+7G>T) n.97+7G>T | gnomAD v4 |
20 | g.54164446C= | CA2370267475 | CYP24A1 | c.844+6G= (n.844+6G=) c.418+6G= (n.418+6G=) n.97+6G= | |
20 | g.54164446C>G | CA9915989 | CYP24A1 | c.844+6G>C (n.844+6G>C) c.418+6G>C (n.418+6G>C) n.97+6G>C | dbSNP ExAC gnomAD v4 |
20 | g.54164446C>T | CA2653396878 | CYP24A1 | c.844+6G>A (n.844+6G>A) c.418+6G>A (n.418+6G>A) n.97+6G>A | gnomAD v4 |
20 | g.54164448T>C | CA2653396881 | CYP24A1 | c.844+4A>G (n.844+4A>G) c.418+4A>G (n.418+4A>G) n.97+4A>G | gnomAD v4 |
20 | g.54164450A= | CA2370267476 | CYP24A1 | c.844+2T= (n.844+2T=) c.418+2T= (n.418+2T=) n.97+2T= | |
20 | g.54164450A>C | CA9915990 | CYP24A1 | c.844+2T>G (n.844+2T>G) c.418+2T>G (n.418+2T>G) n.97+2T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164450A>G | CA409391846 | CYP24A1 | c.844+2T>C (n.844+2T>C) c.418+2T>C (n.418+2T>C) n.97+2T>C | |
20 | g.54164450A>T | CA409391847 | CYP24A1 | c.844+2T>A (n.844+2T>A) c.418+2T>A (n.418+2T>A) n.97+2T>A | gnomAD v4 |
20 | g.54164451C>A | CA409391848 | CYP24A1 | c.844+1G>T (n.844+1G>T) c.418+1G>T (n.418+1G>T) n.97+1G>T | |
20 | g.54164451C= | CA2370267477 | CYP24A1 | c.844+1G= (n.844+1G=) c.418+1G= (n.418+1G=) n.97+1G= | |
20 | g.54164451C>G | CA409391849 | CYP24A1 | c.844+1G>C (n.844+1G>C) c.418+1G>C (n.418+1G>C) n.97+1G>C | |
20 | g.54164451C>T | CA409391850 | CYP24A1 | c.844+1G>A (n.844+1G>A) c.418+1G>A (n.418+1G>A) n.97+1G>A | dbSNP gnomAD v2 gnomAD v4 |
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 |
20 | g.54164466G>C | CA409391882 | CYP24A1 | c.830C>G (p.Thr277Ser) c.404C>G (p.Thr135Ser) n.83C>G | |
20 | g.54164466G= | CA2370267485 | CYP24A1 | c.830C= (p.Thr277=) c.404C= (p.Thr135=) n.83C= | |
20 | g.54164466G>T | CA409391883 | CYP24A1 | c.830C>A (p.Thr277Asn) c.404C>A (p.Thr135Asn) n.83C>A | gnomAD v4 |
20 | g.54164467T>A | CA409391884 | CYP24A1 | c.829A>T (p.Thr277Ser) c.403A>T (p.Thr135Ser) n.82A>T | |
20 | g.54164467T>C | CA9915995 | CYP24A1 | c.829A>G (p.Thr277Ala) c.403A>G (p.Thr135Ala) n.82A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164467T>G | CA409391885 | CYP24A1 | c.829A>C (p.Thr277Pro) c.403A>C (p.Thr135Pro) n.82A>C | |
20 | g.54164467T= | CA2370267486 | CYP24A1 | c.829A= (p.Thr277=) c.403A= (p.Thr135=) n.82A= | |
20 | g.54164468G>A | CA510909827 | CYP24A1 | c.828C>T (p.Asp276=) c.402C>T (p.Asp134=) n.81C>T | dbSNP gnomAD v4 |
20 | g.54164468G>C | CA409391886 | CYP24A1 | c.828C>G (p.Asp276Glu) c.402C>G (p.Asp134Glu) n.81C>G | |
20 | g.54164468G= | CA2370267487 | CYP24A1 | c.828C= (p.Asp276=) c.402C= (p.Asp134=) n.81C= | |
20 | g.54164468G>T | CA409391887 | CYP24A1 | c.828C>A (p.Asp276Glu) c.402C>A (p.Asp134Glu) n.81C>A | |
20 | g.54164469T>A | CA409391888 | CYP24A1 | c.827A>T (p.Asp276Val) c.401A>T (p.Asp134Val) n.80A>T | |
20 | g.54164469T>C | CA409391889 | CYP24A1 | c.827A>G (p.Asp276Gly) c.401A>G (p.Asp134Gly) n.80A>G | gnomAD v4 |
20 | g.54164469T>G | CA409391890 | CYP24A1 | c.827A>C (p.Asp276Ala) c.401A>C (p.Asp134Ala) n.80A>C | |
20 | g.54164470C>A | CA409391891 | CYP24A1 | c.826G>T (p.Asp276Tyr) c.400G>T (p.Asp134Tyr) n.79G>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.54164470C= | CA2370267488 | CYP24A1 | c.826G= (p.Asp276=) c.400G= (p.Asp134=) n.79G= | |
20 | g.54164470C>G | CA409391892 | CYP24A1 | c.826G>C (p.Asp276His) c.400G>C (p.Asp134His) n.79G>C | |
20 | g.54164470C>T | CA409391893 | CYP24A1 | c.826G>A (p.Asp276Asn) c.400G>A (p.Asp134Asn) n.79G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.54164471C>A | CA409391894 | CYP24A1 | c.825G>T (p.Trp275Cys) c.399G>T (p.Trp133Cys) n.78G>T | |
20 | g.54164471C>G | CA409391896 | CYP24A1 | c.825G>C (p.Trp275Cys) c.399G>C (p.Trp133Cys) n.78G>C | |
20 | g.54164471C>T | CA409391895 | CYP24A1 | c.825G>A (p.Trp275Ter) c.399G>A (p.Trp133Ter) n.78G>A | |
20 | g.54164472C>A | CA409391897 | CYP24A1 | c.824G>T (p.Trp275Leu) c.398G>T (p.Trp133Leu) n.77G>T | |
20 | g.54164472C= | CA2370267489 | CYP24A1 | c.824G= (p.Trp275=) c.398G= (p.Trp133=) n.77G= | |
20 | g.54164472C>G | CA409391898 | CYP24A1 | c.824G>C (p.Trp275Ser) c.398G>C (p.Trp133Ser) n.77G>C | gnomAD v4 |
20 | g.54164472C>T | CA9915996 | CYP24A1 | c.824G>A (p.Trp275Ter) c.398G>A (p.Trp133Ter) n.77G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.54164473A= | CA2370267490 | CYP24A1 | c.823T= (p.Trp275=) c.397T= (p.Trp133=) n.76T= | |
20 | g.54164473A>C | CA409391899 | CYP24A1 | c.823T>G (p.Trp275Gly) c.397T>G (p.Trp133Gly) n.76T>G | gnomAD v4 |
20 | g.54164473A>G | CA409391900 | CYP24A1 | c.823T>C (p.Trp275Arg) c.397T>C (p.Trp133Arg) n.76T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164473A>T | CA409391901 | CYP24A1 | c.823T>A (p.Trp275Arg) c.397T>A (p.Trp133Arg) n.76T>A | |
20 | g.54164474G>A | CA510909828 | CYP24A1 | c.822C>T (p.Ala274=) c.396C>T (p.Ala132=) n.75C>T | |
20 | g.54164474G>C | CA510909829 | CYP24A1 | c.822C>G (p.Ala274=) c.396C>G (p.Ala132=) n.75C>G | |
20 | g.54164474G>T | CA510909830 | CYP24A1 | c.822C>A (p.Ala274=) c.396C>A (p.Ala132=) n.75C>A | |
20 | g.54164475G>A | CA409391902 | CYP24A1 | c.821C>T (p.Ala274Val) c.395C>T (p.Ala132Val) n.74C>T | |
20 | g.54164475G>C | CA409391903 | CYP24A1 | c.821C>G (p.Ala274Gly) c.395C>G (p.Ala132Gly) n.74C>G | |
20 | g.54164475G>T | CA409391904 | CYP24A1 | c.821C>A (p.Ala274Asp) c.395C>A (p.Ala132Asp) n.74C>A | |
20 | g.54164476C>A | CA409391905 | CYP24A1 | c.820G>T (p.Ala274Ser) c.394G>T (p.Ala132Ser) n.73G>T | |
20 | g.54164476C>G | CA409391906 | CYP24A1 | c.820G>C (p.Ala274Pro) c.394G>C (p.Ala132Pro) n.73G>C | |
20 | g.54164476C>T | CA409391907 | CYP24A1 | c.820G>A (p.Ala274Thr) c.394G>A (p.Ala132Thr) n.73G>A | gnomAD v4 |
20 | g.54164477C>A | CA510909831 | CYP24A1 | c.819G>T (p.Leu273=) c.393G>T (p.Leu131=) n.72G>T | |
20 | g.54164477C= | CA2370267491 | CYP24A1 | c.819G= (p.Leu273=) c.393G= (p.Leu131=) n.72G= | |
20 | g.54164477C>G | CA510909832 | CYP24A1 | c.819G>C (p.Leu273=) c.393G>C (p.Leu131=) n.72G>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.54164477C>T | CA510909833 | CYP24A1 | c.819G>A (p.Leu273=) c.393G>A (p.Leu131=) n.72G>A | |
20 | g.54164478A>C | CA409391910 | CYP24A1 | c.818T>G (p.Leu273Arg) c.392T>G (p.Leu131Arg) n.71T>G | |
20 | g.54164478A>G | CA409391909 | CYP24A1 | c.818T>C (p.Leu273Pro) c.392T>C (p.Leu131Pro) n.71T>C | |
20 | g.54164478A>T | CA409391908 | CYP24A1 | c.818T>A (p.Leu273Gln) c.392T>A (p.Leu131Gln) n.71T>A | |
20 | g.54164480_54164481del | CA2577429838 | CYP24A1 | c.817_818del (p.Leu273GlyfsTer25) c.391_392del (p.Leu131GlyfsTer25) n.70_71del | gnomAD v4 |
20 | g.54164479G>A | CA510909835 | CYP24A1 | c.817C>T (p.Leu273=) c.391C>T (p.Leu131=) n.70C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164479G>C | CA409391911 | CYP24A1 | c.817C>G (p.Leu273Val) c.391C>G (p.Leu131Val) n.70C>G | |
20 | g.54164479G= | CA2370267492 | CYP24A1 | c.817C= (p.Leu273=) c.391C= (p.Leu131=) n.70C= | |
20 | g.54164479G>T | CA409391912 | CYP24A1 | c.817C>A (p.Leu273Met) c.391C>A (p.Leu131Met) n.70C>A | |
20 | g.54164480A>C | CA510909837 | CYP24A1 | c.816T>G (p.Thr272=) c.390T>G (p.Thr130=) n.69T>G | |
20 | g.54164480A>G | CA510909839 | CYP24A1 | c.816T>C (p.Thr272=) c.390T>C (p.Thr130=) n.69T>C | |
20 | g.54164480A>T | CA510909838 | CYP24A1 | c.816T>A (p.Thr272=) c.390T>A (p.Thr130=) n.69T>A | COSMIC |
20 | g.54164481G>A | CA409391913 | CYP24A1 | c.815C>T (p.Thr272Ile) c.389C>T (p.Thr130Ile) n.68C>T | dbSNP gnomAD v4 |
20 | g.54164481G>C | CA409391914 | CYP24A1 | c.815C>G (p.Thr272Ser) c.389C>G (p.Thr130Ser) n.68C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164481G= | CA2370267493 | CYP24A1 | c.815C= (p.Thr272=) c.389C= (p.Thr130=) n.68C= | |
20 | g.54164481G>T | CA409391915 | CYP24A1 | c.815C>A (p.Thr272Asn) c.389C>A (p.Thr130Asn) n.68C>A | |
20 | g.54164482T>A | CA9915997 | CYP24A1 | c.814A>T (p.Thr272Ser) c.388A>T (p.Thr130Ser) n.67A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164482T>C | CA409391916 | CYP24A1 | c.814A>G (p.Thr272Ala) c.388A>G (p.Thr130Ala) n.67A>G | |
20 | g.54164482T>G | CA409391917 | CYP24A1 | c.814A>C (p.Thr272Pro) c.388A>C (p.Thr130Pro) n.67A>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.54164482T= | CA2370267494 | CYP24A1 | c.814A= (p.Thr272=) c.388A= (p.Thr130=) n.67A= | |
20 | g.54164483G>A | CA510909840 | CYP24A1 | c.813C>T (p.His271=) c.387C>T (p.His129=) n.66C>T | |
20 | g.54164483G>C | CA409391918 | CYP24A1 | c.813C>G (p.His271Gln) c.387C>G (p.His129Gln) n.66C>G | |
20 | g.54164483G>T | CA409391919 | CYP24A1 | c.813C>A (p.His271Gln) c.387C>A (p.His129Gln) n.66C>A | |
20 | g.54164484T>A | CA409391920 | CYP24A1 | c.812A>T (p.His271Leu) c.386A>T (p.His129Leu) n.65A>T | |
20 | g.54164484T>C | CA409391921 | CYP24A1 | c.812A>G (p.His271Arg) c.386A>G (p.His129Arg) n.65A>G | dbSNP gnomAD v4 |
20 | g.54164484T>G | CA409391922 | CYP24A1 | c.812A>C (p.His271Pro) c.386A>C (p.His129Pro) n.65A>C | |
20 | g.54164484T= | CA2370267495 | CYP24A1 | c.812A= (p.His271=) c.386A= (p.His129=) n.65A= | |
20 | g.54164485G>A | CA409391924 | CYP24A1 | c.811C>T (p.His271Tyr) c.385C>T (p.His129Tyr) n.64C>T | |
20 | g.54164485G>C | CA409391925 | CYP24A1 | c.811C>G (p.His271Asp) c.385C>G (p.His129Asp) n.64C>G | |
20 | g.54164485G>T | CA409391923 | CYP24A1 | c.811C>A (p.His271Asn) c.385C>A (p.His129Asn) n.64C>A | |
20 | g.54164486G>A | CA9915998 | CYP24A1 | c.810C>T (p.Asp270=) c.384C>T (p.Asp128=) n.63C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.54164486G>C | CA409391926 | CYP24A1 | c.810C>G (p.Asp270Glu) c.384C>G (p.Asp128Glu) n.63C>G | |
20 | g.54164486G= | CA2370267496 | CYP24A1 | c.810C= (p.Asp270=) c.384C= (p.Asp128=) n.63C= | |
20 | g.54164486G>T | CA9915999 | CYP24A1 | c.810C>A (p.Asp270Glu) c.384C>A (p.Asp128Glu) n.63C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164487T>A | CA409391927 | CYP24A1 | c.809A>T (p.Asp270Val) c.383A>T (p.Asp128Val) n.62A>T | |
20 | g.54164487T>C | CA409391928 | CYP24A1 | c.809A>G (p.Asp270Gly) c.383A>G (p.Asp128Gly) n.62A>G | |
20 | g.54164487T>G | CA409391929 | CYP24A1 | c.809A>C (p.Asp270Ala) c.383A>C (p.Asp128Ala) n.62A>C | |
20 | g.54164488C>A | CA409391930 | CYP24A1 | c.808G>T (p.Asp270Tyr) c.382G>T (p.Asp128Tyr) n.61G>T | |
20 | g.54164488C>G | CA409391931 | CYP24A1 | c.808G>C (p.Asp270His) c.382G>C (p.Asp128His) n.61G>C | |
20 | g.54164488C>T | CA409391932 | CYP24A1 | c.808G>A (p.Asp270Asn) c.382G>A (p.Asp128Asn) n.61G>A | |
20 | g.54164489C>A | CA409391933 | CYP24A1 | c.807G>T (p.Gln269His) c.381G>T (p.Gln127His) n.60G>T | |
20 | g.54164489C= | CA2370267497 | CYP24A1 | c.807G= (p.Gln269=) c.381G= (p.Gln127=) n.60G= | |
20 | g.54164489C>G | CA9916000 | CYP24A1 | c.807G>C (p.Gln269His) c.381G>C (p.Gln127His) n.60G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164489C>T | CA510909842 | CYP24A1 | c.807G>A (p.Gln269=) c.381G>A (p.Gln127=) n.60G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.54164490T>A | CA409391934 | CYP24A1 | c.806A>T (p.Gln269Leu) c.380A>T (p.Gln127Leu) n.59A>T | |
20 | g.54164490T>C | CA409391935 | CYP24A1 | c.806A>G (p.Gln269Arg) c.380A>G (p.Gln127Arg) n.59A>G | COSMIC |
20 | g.54164490T>G | CA409391936 | CYP24A1 | c.806A>C (p.Gln269Pro) c.380A>C (p.Gln127Pro) n.59A>C | |
20 | g.54164491G>A | CA409391937 | CYP24A1 | c.805C>T (p.Gln269Ter) c.379C>T (p.Gln127Ter) n.58C>T | |
20 | g.54164491G>C | CA409391938 | CYP24A1 | c.805C>G (p.Gln269Glu) c.379C>G (p.Gln127Glu) n.58C>G | |
20 | g.54164491G>T | CA409391939 | CYP24A1 | c.805C>A (p.Gln269Lys) c.379C>A (p.Gln127Lys) n.58C>A | gnomAD v4 |
20 | g.54164492C>A | CA409391940 | CYP24A1 | c.804G>T (p.Trp268Cys) c.378G>T (p.Trp126Cys) n.57G>T | COSMIC |
20 | g.54164492C= | CA2370267498 | CYP24A1 | c.804G= (p.Trp268=) c.378G= (p.Trp126=) n.57G= | |
20 | g.54164492C>G | CA409391941 | CYP24A1 | c.804G>C (p.Trp268Cys) c.378G>C (p.Trp126Cys) n.57G>C | |
20 | g.54164492C>T | CA9916001 | CYP24A1 | c.804G>A (p.Trp268Ter) c.378G>A (p.Trp126Ter) n.57G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164493C>A | CA409391942 | CYP24A1 | c.803G>T (p.Trp268Leu) c.377G>T (p.Trp126Leu) n.56G>T | |
20 | g.54164493C= | CA2370267499 | CYP24A1 | c.803G= (p.Trp268=) c.377G= (p.Trp126=) n.56G= | |
20 | g.54164493C>G | CA409391943 | CYP24A1 | c.803G>C (p.Trp268Ser) c.377G>C (p.Trp126Ser) n.56G>C | gnomAD v4 |
20 | g.54164493C>T | CA409391944 | CYP24A1 | c.803G>A (p.Trp268Ter) c.377G>A (p.Trp126Ter) n.56G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164494A= | CA2370267500 | CYP24A1 | c.802T= (p.Trp268=) c.376T= (p.Trp126=) n.55T= | |
20 | g.54164494A>C | CA409391945 | CYP24A1 | c.802T>G (p.Trp268Gly) c.376T>G (p.Trp126Gly) n.55T>G | |
20 | g.54164494A>G | CA9916002 | CYP24A1 | c.802T>C (p.Trp268Arg) c.376T>C (p.Trp126Arg) n.55T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164494A>T | CA409391946 | CYP24A1 | c.802T>A (p.Trp268Arg) c.376T>A (p.Trp126Arg) n.55T>A | |
20 | g.54164495G>A | CA510909844 | CYP24A1 | c.801C>T (p.Val267=) c.375C>T (p.Val125=) n.54C>T | |
20 | g.54164495G>C | CA510909845 | CYP24A1 | c.801C>G (p.Val267=) c.375C>G (p.Val125=) n.54C>G | gnomAD v4 |
20 | g.54164495G>T | CA510909846 | CYP24A1 | c.801C>A (p.Val267=) c.375C>A (p.Val125=) n.54C>A | |
20 | g.54164496A>C | CA409391947 | CYP24A1 | c.800T>G (p.Val267Gly) c.374T>G (p.Val125Gly) n.53T>G | |
20 | g.54164496A>G | CA409391948 | CYP24A1 | c.800T>C (p.Val267Ala) c.374T>C (p.Val125Ala) n.53T>C | |
20 | g.54164496A>T | CA409391949 | CYP24A1 | c.800T>A (p.Val267Asp) c.374T>A (p.Val125Asp) n.53T>A | |
20 | g.54164497C>A | CA9916003 | CYP24A1 | c.799G>T (p.Val267Phe) c.373G>T (p.Val125Phe) n.52G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.54164497C= | CA2370267501 | CYP24A1 | c.799G= (p.Val267=) c.373G= (p.Val125=) n.52G= | |
20 | g.54164497C>G | CA409391950 | CYP24A1 | c.799G>C (p.Val267Leu) c.373G>C (p.Val125Leu) n.52G>C | |
20 | g.54164497C>T | CA409391951 | CYP24A1 | c.799G>A (p.Val267Ile) c.373G>A (p.Val125Ile) n.52G>A | gnomAD v4 |
20 | g.54164498C>A | CA409391952 | CYP24A1 | c.798G>T (p.Lys266Asn) c.372G>T (p.Lys124Asn) n.51G>T | |
20 | g.54164498C>G | CA409391953 | CYP24A1 | c.798G>C (p.Lys266Asn) c.372G>C (p.Lys124Asn) n.51G>C | |
20 | g.54164498C>T | CA510909847 | CYP24A1 | c.798G>A (p.Lys266=) c.372G>A (p.Lys124=) n.51G>A | |
20 | g.54164499T>A | CA409391954 | CYP24A1 | c.797A>T (p.Lys266Met) c.371A>T (p.Lys124Met) n.50A>T | |
20 | g.54164499T>C | CA409391955 | CYP24A1 | c.797A>G (p.Lys266Arg) c.371A>G (p.Lys124Arg) n.50A>G | |
20 | g.54164499T>G | CA409391956 | CYP24A1 | c.797A>C (p.Lys266Thr) c.371A>C (p.Lys124Thr) n.50A>C | |
20 | g.54164500T>A | CA409391957 | CYP24A1 | c.796A>T (p.Lys266Ter) c.370A>T (p.Lys124Ter) n.49A>T | |
20 | g.54164500T>C | CA409391958 | CYP24A1 | c.796A>G (p.Lys266Glu) c.370A>G (p.Lys124Glu) n.49A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164500T>G | CA409391959 | CYP24A1 | c.796A>C (p.Lys266Gln) c.370A>C (p.Lys124Gln) n.49A>C | |
20 | g.54164500T= | CA2370267502 | CYP24A1 | c.796A= (p.Lys266=) c.370A= (p.Lys124=) n.49A= | |
20 | g.54164501G>A | CA9916004 | CYP24A1 | c.795C>T (p.Thr265=) c.369C>T (p.Thr123=) n.48C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.54164501G>C | CA510909848 | CYP24A1 | c.795C>G (p.Thr265=) c.369C>G (p.Thr123=) n.48C>G | |
20 | g.54164501G= | CA2370267503 | CYP24A1 | c.795C= (p.Thr265=) c.369C= (p.Thr123=) n.48C= | |
20 | g.54164501G>T | CA510909849 | CYP24A1 | c.795C>A (p.Thr265=) c.369C>A (p.Thr123=) n.48C>A | |
20 | g.54164502G>A | CA409391962 | CYP24A1 | c.794C>T (p.Thr265Ile) c.368C>T (p.Thr123Ile) n.47C>T | |
20 | g.54164502G>C | CA409391960 | CYP24A1 | c.794C>G (p.Thr265Ser) c.368C>G (p.Thr123Ser) n.47C>G | |
20 | g.54164502G>T | CA409391961 | CYP24A1 | c.794C>A (p.Thr265Asn) c.368C>A (p.Thr123Asn) n.47C>A | |
20 | g.54164503T>A | CA409391963 | CYP24A1 | c.793A>T (p.Thr265Ser) c.367A>T (p.Thr123Ser) n.46A>T | |
20 | g.54164503T>C | CA409391964 | CYP24A1 | c.793A>G (p.Thr265Ala) c.367A>G (p.Thr123Ala) n.46A>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.54164503T>G | CA409391965 | CYP24A1 | c.793A>C (p.Thr265Pro) c.367A>C (p.Thr123Pro) n.46A>C | |
20 | g.54164503T= | CA2370267504 | CYP24A1 | c.793A= (p.Thr265=) c.367A= (p.Thr123=) n.46A= | |
20 | g.54164504G>A | CA510909850 | CYP24A1 | c.792C>T (p.Asn264=) c.366C>T (p.Asn122=) n.45C>T | |
20 | g.54164504G>C | CA409391966 | CYP24A1 | c.792C>G (p.Asn264Lys) c.366C>G (p.Asn122Lys) n.45C>G | |
20 | g.54164504G= | CA2370267505 | CYP24A1 | c.792C= (p.Asn264=) c.366C= (p.Asn122=) n.45C= | |
20 | g.54164504G>T | CA409391967 | CYP24A1 | c.792C>A (p.Asn264Lys) c.366C>A (p.Asn122Lys) n.45C>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.54164505T>A | CA409391968 | CYP24A1 | c.791A>T (p.Asn264Ile) c.365A>T (p.Asn122Ile) n.44A>T | |
20 | g.54164505T>C | CA409391970 | CYP24A1 | c.791A>G (p.Asn264Ser) c.365A>G (p.Asn122Ser) n.44A>G | dbSNP gnomAD v2 |
20 | g.54164505T>G | CA409391969 | CYP24A1 | c.791A>C (p.Asn264Thr) c.365A>C (p.Asn122Thr) n.44A>C | |
20 | g.54164505T= | CA2370267506 | CYP24A1 | c.791A= (p.Asn264=) c.365A= (p.Asn122=) n.44A= | |
20 | g.54164506T>A | CA409391971 | CYP24A1 | c.790A>T (p.Asn264Tyr) c.364A>T (p.Asn122Tyr) n.43A>T | |
20 | g.54164506T>C | CA409391972 | CYP24A1 | c.790A>G (p.Asn264Asp) c.364A>G (p.Asn122Asp) n.43A>G | |
20 | g.54164506T>G | CA409391973 | CYP24A1 | c.790A>C (p.Asn264His) c.364A>C (p.Asn122His) n.43A>C | gnomAD v4 |
20 | g.54164507G>A | CA510909853 | CYP24A1 | c.789C>T (p.Leu263=) c.363C>T (p.Leu121=) n.42C>T | |
20 | g.54164507G>C | CA510909852 | CYP24A1 | c.789C>G (p.Leu263=) c.363C>G (p.Leu121=) n.42C>G | |
20 | g.54164507G>T | CA510909851 | CYP24A1 | c.789C>A (p.Leu263=) c.363C>A (p.Leu121=) n.42C>A | |
20 | g.54164508A= | CA2370267507 | CYP24A1 | c.788T= (p.Leu263=) c.362T= (p.Leu121=) n.41T= | |
20 | g.54164508A>C | CA409391974 | CYP24A1 | c.788T>G (p.Leu263Arg) c.362T>G (p.Leu121Arg) n.41T>G | gnomAD v4 |
20 | g.54164508A>G | CA9916005 | CYP24A1 | c.788T>C (p.Leu263Pro) c.362T>C (p.Leu121Pro) n.41T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.54164508A>T | CA409391975 | CYP24A1 | c.788T>A (p.Leu263His) c.362T>A (p.Leu121His) n.41T>A | |
20 | g.54164509G>A | CA409391976 | CYP24A1 | c.787C>T (p.Leu263Phe) c.361C>T (p.Leu121Phe) n.40C>T | |
20 | g.54164509G>C | CA409391977 | CYP24A1 | c.787C>G (p.Leu263Val) c.361C>G (p.Leu121Val) n.40C>G | gnomAD v4 COSMIC |
20 | g.54164509G>T | CA409391978 | CYP24A1 | c.787C>A (p.Leu263Ile) c.361C>A (p.Leu121Ile) n.40C>A | |
20 | g.54164510G>A | CA510909854 | CYP24A1 | c.786C>T (p.Ser262=) c.360C>T (p.Ser120=) n.39C>T | |
20 | g.54164510G>C | CA409391979 | CYP24A1 | c.786C>G (p.Ser262Arg) c.360C>G (p.Ser120Arg) n.39C>G | |
20 | g.54164510G>T | CA409391980 | CYP24A1 | c.786C>A (p.Ser262Arg) c.360C>A (p.Ser120Arg) n.39C>A | |
20 | g.54164511C>A | CA409391981 | CYP24A1 | c.785G>T (p.Ser262Ile) c.359G>T (p.Ser120Ile) n.38G>T | gnomAD v4 |
20 | g.54164511C>G | CA409391983 | CYP24A1 | c.785G>C (p.Ser262Thr) c.359G>C (p.Ser120Thr) n.38G>C | |
20 | g.54164511C>T | CA409391982 | CYP24A1 | c.785G>A (p.Ser262Asn) c.359G>A (p.Ser120Asn) n.38G>A | gnomAD v4 |
20 | g.54164512T>A | CA409391984 | CYP24A1 | c.784A>T (p.Ser262Cys) c.358A>T (p.Ser120Cys) n.37A>T | |
20 | g.54164512T>C | CA316157254 | CYP24A1 | c.784A>G (p.Ser262Gly) c.358A>G (p.Ser120Gly) n.37A>G | dbSNP gnomAD v4 |
20 | g.54164512T>G | CA409391985 | CYP24A1 | c.784A>C (p.Ser262Arg) c.358A>C (p.Ser120Arg) n.37A>C | |
20 | g.54164512T= | CA2370267508 | CYP24A1 | c.784A= (p.Ser262=) c.358A= (p.Ser120=) n.37A= | |
20 | g.54164513C>A | CA409391986 | CYP24A1 | c.783G>T (p.Lys261Asn) c.357G>T (p.Lys119Asn) n.36G>T | |
20 | g.54164513C= | CA2370267509 | CYP24A1 | c.783G= (p.Lys261=) c.357G= (p.Lys119=) n.36G= | |
20 | g.54164513C>G | CA409391987 | CYP24A1 | c.783G>C (p.Lys261Asn) c.357G>C (p.Lys119Asn) n.36G>C | dbSNP gnomAD v4 |
20 | g.54164513C>T | CA9916006 | CYP24A1 | c.783G>A (p.Lys261=) c.357G>A (p.Lys119=) n.36G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54164514T>A | CA409391988 | CYP24A1 | c.782A>T (p.Lys261Met) c.356A>T (p.Lys119Met) n.35A>T | |
20 | g.54164514T>C | CA409391989 | CYP24A1 | c.782A>G (p.Lys261Arg) c.356A>G (p.Lys119Arg) n.35A>G | |
20 | g.54164514T>G | CA409391990 | CYP24A1 | c.782A>C (p.Lys261Thr) c.356A>C (p.Lys119Thr) n.35A>C | |
20 | g.54164515T>A | CA409391991 | CYP24A1 | c.781A>T (p.Lys261Ter) c.355A>T (p.Lys119Ter) n.34A>T | |
20 | g.54164515T>C | CA9916007 | CYP24A1 | c.781A>G (p.Lys261Glu) c.355A>G (p.Lys119Glu) n.34A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.54164515T>G | CA409391992 | CYP24A1 | c.781A>C (p.Lys261Gln) c.355A>C (p.Lys119Gln) n.34A>C | |
20 | g.54164515T= | CA2370267510 | CYP24A1 | c.781A= (p.Lys261=) c.355A= (p.Lys119=) n.34A= | |
20 | g.54164516G>A | CA510909856 | CYP24A1 | c.780C>T (p.His260=) c.354C>T (p.His118=) n.33C>T | |
20 | g.54164516G>C | CA409391993 | CYP24A1 | c.780C>G (p.His260Gln) c.354C>G (p.His118Gln) n.33C>G | |
20 | g.54164516G= | CA2370267511 | CYP24A1 | c.780C= (p.His260=) c.354C= (p.His118=) n.33C= | |
20 | g.54164516G>T | CA409391994 | CYP24A1 | c.780C>A (p.His260Gln) c.354C>A (p.His118Gln) n.33C>A | dbSNP gnomAD v4 |
20 | g.54164517T>A | CA409391997 | CYP24A1 | c.779A>T (p.His260Leu) c.353A>T (p.His118Leu) n.32A>T | |
20 | g.54164517T>C | CA409391995 | CYP24A1 | c.779A>G (p.His260Arg) c.353A>G (p.His118Arg) n.32A>G | COSMIC |
20 | g.54164517T>G | CA409391996 | CYP24A1 | c.779A>C (p.His260Pro) c.353A>C (p.His118Pro) n.32A>C | dbSNP |
20 | g.54164517T= | CA2370267512 | CYP24A1 | c.779A= (p.His260=) c.353A= (p.His118=) n.32A= |