| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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= | |
| 20 | g.54164518G>A | CA409391998 | CYP24A1 | c.778C>T (p.His260Tyr) c.352C>T (p.His118Tyr) n.31C>T | |
| 20 | g.54164518G>C | CA409391999 | CYP24A1 | c.778C>G (p.His260Asp) c.352C>G (p.His118Asp) n.31C>G | |
| 20 | g.54164518G>T | CA409392000 | CYP24A1 | c.778C>A (p.His260Asn) c.352C>A (p.His118Asn) n.31C>A | |
| 20 | g.54164519C>A | CA510909857 | CYP24A1 | c.777G>T (p.Leu259=) c.351G>T (p.Leu117=) n.30G>T | |
| 20 | g.54164519C>G | CA510909858 | CYP24A1 | c.777G>C (p.Leu259=) c.351G>C (p.Leu117=) n.30G>C | |
| 20 | g.54164519C>T | CA510909859 | CYP24A1 | c.777G>A (p.Leu259=) c.351G>A (p.Leu117=) n.30G>A | |
| 20 | g.54164520A= | CA2370267513 | CYP24A1 | c.776T= (p.Leu259=) c.350T= (p.Leu117=) n.29T= | |
| 20 | g.54164520A>C | CA409392001 | CYP24A1 | c.776T>G (p.Leu259Arg) c.350T>G (p.Leu117Arg) n.29T>G | |
| 20 | g.54164520A>G | CA10644115 | CYP24A1 | c.776T>C (p.Leu259Pro) c.350T>C (p.Leu117Pro) n.29T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54164520A>T | CA409392002 | CYP24A1 | c.776T>A (p.Leu259Gln) c.350T>A (p.Leu117Gln) n.29T>A | |
| 20 | g.54164521G>A | CA316157256 | CYP24A1 | c.775C>T (p.Leu259=) c.349C>T (p.Leu117=) n.28C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54164521G>C | CA409392003 | CYP24A1 | c.775C>G (p.Leu259Val) c.349C>G (p.Leu117Val) n.28C>G | |
| 20 | g.54164521G= | CA2370267514 | CYP24A1 | c.775C= (p.Leu259=) c.349C= (p.Leu117=) n.28C= | |
| 20 | g.54164521G>T | CA409392004 | CYP24A1 | c.775C>A (p.Leu259Met) c.349C>A (p.Leu117Met) n.28C>A | |
| 20 | g.54164522C>A | CA409392005 | CYP24A1 | c.774G>T (p.Glu258Asp) c.348G>T (p.Glu116Asp) n.27G>T | |
| 20 | g.54164522C= | CA2370267515 | CYP24A1 | c.774G= (p.Glu258=) c.348G= (p.Glu116=) n.27G= | |
| 20 | g.54164522C>G | CA9916008 | CYP24A1 | c.774G>C (p.Glu258Asp) c.348G>C (p.Glu116Asp) n.27G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54164522C>T | CA510909863 | CYP24A1 | c.774G>A (p.Glu258=) c.348G>A (p.Glu116=) n.27G>A | |
| 20 | g.54164523T>A | CA409392007 | CYP24A1 | c.773A>T (p.Glu258Val) c.347A>T (p.Glu116Val) n.26A>T | |
| 20 | g.54164523T>C | CA409392008 | CYP24A1 | c.773A>G (p.Glu258Gly) c.347A>G (p.Glu116Gly) n.26A>G | |
| 20 | g.54164523T>G | CA409392006 | CYP24A1 | c.773A>C (p.Glu258Ala) c.347A>C (p.Glu116Ala) n.26A>C | |
| 20 | g.54164524C>A | CA409392009 | CYP24A1 | c.772G>T (p.Glu258Ter) c.346G>T (p.Glu116Ter) n.25G>T | |
| 20 | g.54164524C>G | CA409392010 | CYP24A1 | c.772G>C (p.Glu258Gln) c.346G>C (p.Glu116Gln) n.25G>C | |
| 20 | g.54164524C>T | CA409392011 | CYP24A1 | c.772G>A (p.Glu258Lys) c.346G>A (p.Glu116Lys) n.25G>A | gnomAD v4 |
| 20 | g.54164525G>A | CA9916009 | CYP24A1 | c.771C>T (p.Val257=) c.345C>T (p.Val115=) n.24C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54164525G>C | CA510909875 | CYP24A1 | c.771C>G (p.Val257=) c.345C>G (p.Val115=) n.24C>G | dbSNP |
| 20 | g.54164525G= | CA2370267516 | CYP24A1 | c.771C= (p.Val257=) c.345C= (p.Val115=) n.24C= | |
| 20 | g.54164525G>T | CA510909877 | CYP24A1 | c.771C>A (p.Val257=) c.345C>A (p.Val115=) n.24C>A | |
| 20 | g.54164526A>C | CA409392012 | CYP24A1 | c.770T>G (p.Val257Gly) c.344T>G (p.Val115Gly) n.23T>G | |
| 20 | g.54164526A>G | CA409392013 | CYP24A1 | c.770T>C (p.Val257Ala) c.344T>C (p.Val115Ala) n.23T>C | gnomAD v4 |
| 20 | g.54164526A>T | CA409392014 | CYP24A1 | c.770T>A (p.Val257Asp) c.344T>A (p.Val115Asp) n.23T>A | |
| 20 | g.54164527C>A | CA409392015 | CYP24A1 | c.769G>T (p.Val257Phe) c.343G>T (p.Val115Phe) n.22G>T | |
| 20 | g.54164527C>G | CA409392016 | CYP24A1 | c.769G>C (p.Val257Leu) c.343G>C (p.Val115Leu) n.22G>C | |
| 20 | g.54164527C>T | CA409392017 | CYP24A1 | c.769G>A (p.Val257Ile) c.343G>A (p.Val115Ile) n.22G>A | |
| 20 | g.54164528T>A | CA510909887 | CYP24A1 | c.768A>T (p.Pro256=) c.342A>T (p.Pro114=) n.21A>T | gnomAD v4 |
| 20 | g.54164528T>C | CA510909889 | CYP24A1 | c.768A>G (p.Pro256=) c.342A>G (p.Pro114=) n.21A>G | |
| 20 | g.54164528T>G | CA510909891 | CYP24A1 | c.768A>C (p.Pro256=) c.342A>C (p.Pro114=) n.21A>C | |
| 20 | g.54164529G>A | CA409392018 | CYP24A1 | c.767C>T (p.Pro256Leu) c.341C>T (p.Pro114Leu) n.20C>T | gnomAD v4 |
| 20 | g.54164529G>C | CA409392019 | CYP24A1 | c.767C>G (p.Pro256Arg) c.341C>G (p.Pro114Arg) n.20C>G | |
| 20 | g.54164529G>T | CA409392020 | CYP24A1 | c.767C>A (p.Pro256Gln) c.341C>A (p.Pro114Gln) n.20C>A | |
| 20 | g.54164530G>A | CA409392023 | CYP24A1 | c.766C>T (p.Pro256Ser) c.340C>T (p.Pro114Ser) n.19C>T | |
| 20 | g.54164530G>C | CA409392022 | CYP24A1 | c.766C>G (p.Pro256Ala) c.340C>G (p.Pro114Ala) n.19C>G | |
| 20 | g.54164530G>T | CA409392021 | CYP24A1 | c.766C>A (p.Pro256Thr) c.340C>A (p.Pro114Thr) n.19C>A | |
| 20 | g.54164531A>C | CA510909921 | CYP24A1 | c.765T>G (p.Thr255=) c.339T>G (p.Thr113=) n.18T>G | |
| 20 | g.54164531A>G | CA510909924 | CYP24A1 | c.765T>C (p.Thr255=) c.339T>C (p.Thr113=) n.18T>C | |
| 20 | g.54164531A>T | CA510909926 | CYP24A1 | c.765T>A (p.Thr255=) c.339T>A (p.Thr113=) n.18T>A | |
| 20 | g.54164532G>A | CA409392024 | CYP24A1 | c.764C>T (p.Thr255Ile) c.338C>T (p.Thr113Ile) n.17C>T | gnomAD v4 |
| 20 | g.54164532G>C | CA409392025 | CYP24A1 | c.764C>G (p.Thr255Ser) c.338C>G (p.Thr113Ser) n.17C>G | |
| 20 | g.54164532G>T | CA409392026 | CYP24A1 | c.764C>A (p.Thr255Asn) c.338C>A (p.Thr113Asn) n.17C>A | |
| 20 | g.54164533T>A | CA409392027 | CYP24A1 | c.763A>T (p.Thr255Ser) c.337A>T (p.Thr113Ser) n.16A>T | |
| 20 | g.54164533T>C | CA409392028 | CYP24A1 | c.763A>G (p.Thr255Ala) c.337A>G (p.Thr113Ala) n.16A>G | |
| 20 | g.54164533T>G | CA409392029 | CYP24A1 | c.763A>C (p.Thr255Pro) c.337A>C (p.Thr113Pro) n.16A>C | |
| 20 | g.54164534G>A | CA510909936 | CYP24A1 | c.762C>T (p.Val254=) c.336C>T (p.Val112=) n.15C>T | |
| 20 | g.54164534G>C | CA510909938 | CYP24A1 | c.762C>G (p.Val254=) c.336C>G (p.Val112=) n.15C>G | |
| 20 | g.54164534G>T | CA510909940 | CYP24A1 | c.762C>A (p.Val254=) c.336C>A (p.Val112=) n.15C>A | |
| 20 | g.54164535A>C | CA409392030 | CYP24A1 | c.761T>G (p.Val254Gly) c.335T>G (p.Val112Gly) n.14T>G | |
| 20 | g.54164535A>G | CA409392031 | CYP24A1 | c.761T>C (p.Val254Ala) c.335T>C (p.Val112Ala) n.14T>C | |
| 20 | g.54164535A>T | CA409392032 | CYP24A1 | c.761T>A (p.Val254Asp) c.335T>A (p.Val112Asp) n.14T>A | |
| 20 | g.54164536C>A | CA409392033 | CYP24A1 | c.760G>T (p.Val254Phe) c.334G>T (p.Val112Phe) n.13G>T | dbSNP COSMIC |
| 20 | g.54164536C= | CA2370267517 | CYP24A1 | c.760G= (p.Val254=) c.334G= (p.Val112=) n.13G= | |
| 20 | g.54164536C>G | CA409392034 | CYP24A1 | c.760G>C (p.Val254Leu) c.334G>C (p.Val112Leu) n.13G>C | |
| 20 | g.54164536C>T | CA409392035 | CYP24A1 | c.760G>A (p.Val254Ile) c.334G>A (p.Val112Ile) n.13G>A | dbSNP gnomAD v4 |
| 20 | g.54164537C>A | CA9916010 | CYP24A1 | c.759G>T (p.Met253Ile) c.333G>T (p.Met111Ile) n.12G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54164537C= | CA2370267518 | CYP24A1 | c.759G= (p.Met253=) c.333G= (p.Met111=) n.12G= | |
| 20 | g.54164537C>G | CA409392037 | CYP24A1 | c.759G>C (p.Met253Ile) c.333G>C (p.Met111Ile) n.12G>C | |
| 20 | g.54164537C>T | CA409392036 | CYP24A1 | c.759G>A (p.Met253Ile) c.333G>A (p.Met111Ile) n.12G>A | gnomAD v4 |
| 20 | g.54164538A>C | CA409392038 | CYP24A1 | c.758T>G (p.Met253Arg) c.332T>G (p.Met111Arg) n.11T>G | |
| 20 | g.54164538A>G | CA409392040 | CYP24A1 | c.758T>C (p.Met253Thr) c.332T>C (p.Met111Thr) n.11T>C | gnomAD v4 |
| 20 | g.54164538A>T | CA409392039 | CYP24A1 | c.758T>A (p.Met253Lys) c.332T>A (p.Met111Lys) n.11T>A | |
| 20 | g.54164539T>A | CA409392041 | CYP24A1 | c.757A>T (p.Met253Leu) c.331A>T (p.Met111Leu) n.10A>T | |
| 20 | g.54164539T>C | CA409392043 | CYP24A1 | c.757A>G (p.Met253Val) c.331A>G (p.Met111Val) n.10A>G | |
| 20 | g.54164539T>G | CA409392042 | CYP24A1 | c.757A>C (p.Met253Leu) c.331A>C (p.Met111Leu) n.10A>C | |
| 20 | g.54164540C>A | CA409392044 | CYP24A1 | c.756G>T (p.Met252Ile) c.330G>T (p.Met110Ile) n.9G>T | COSMIC |
| 20 | g.54164540C>G | CA409392045 | CYP24A1 | c.756G>C (p.Met252Ile) c.330G>C (p.Met110Ile) n.9G>C | COSMIC |
| 20 | g.54164540C>T | CA409392046 | CYP24A1 | c.756G>A (p.Met252Ile) c.330G>A (p.Met110Ile) n.9G>A | |
| 20 | g.54164541A>C | CA409392047 | CYP24A1 | c.755T>G (p.Met252Arg) c.329T>G (p.Met110Arg) n.8T>G | |
| 20 | g.54164541A>G | CA409392048 | CYP24A1 | c.755T>C (p.Met252Thr) c.329T>C (p.Met110Thr) n.8T>C | gnomAD v4 |
| 20 | g.54164541A>T | CA409392049 | CYP24A1 | c.755T>A (p.Met252Lys) c.329T>A (p.Met110Lys) n.8T>A | gnomAD v4 |
| 20 | g.54164542T>A | CA409392050 | CYP24A1 | c.754A>T (p.Met252Leu) c.328A>T (p.Met110Leu) n.7A>T | |
| 20 | g.54164542T>C | CA409392051 | CYP24A1 | c.754A>G (p.Met252Val) c.328A>G (p.Met110Val) n.7A>G | |
| 20 | g.54164542T>G | CA409392052 | CYP24A1 | c.754A>C (p.Met252Leu) c.328A>C (p.Met110Leu) n.7A>C | dbSNP |
| 20 | g.54164542T= | CA2370267519 | CYP24A1 | c.754A= (p.Met252=) c.328A= (p.Met110=) n.7A= | |
| 20 | g.54164543C>A | CA409392053 | CYP24A1 | c.753G>T (p.Arg251Ser) c.327G>T (p.Arg109Ser) n.6G>T | |
| 20 | g.54164543C= | CA2370267520 | CYP24A1 | c.753G= (p.Arg251=) c.327G= (p.Arg109=) n.6G= | |
| 20 | g.54164543C>G | CA409392054 | CYP24A1 | c.753G>C (p.Arg251Ser) c.327G>C (p.Arg109Ser) n.6G>C | |
| 20 | g.54164543C>T | CA9916011 | CYP24A1 | c.753G>A (p.Arg251=) c.327G>A (p.Arg109=) n.6G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54164544C>A | CA409392057 | CYP24A1 | c.752G>T (p.Arg251Met) c.326G>T (p.Arg109Met) n.5G>T | |
| 20 | g.54164544C>G | CA409392055 | CYP24A1 | c.752G>C (p.Arg251Thr) c.326G>C (p.Arg109Thr) n.5G>C | |
| 20 | g.54164544C>T | CA409392056 | CYP24A1 | c.752G>A (p.Arg251Lys) c.326G>A (p.Arg109Lys) n.5G>A | |
| 20 | g.54164545T>A | CA409392058 | CYP24A1 | c.751A>T (p.Arg251Trp) c.325A>T (p.Arg109Trp) n.4A>T | |
| 20 | g.54164545T>C | CA409392059 | CYP24A1 | c.751A>G (p.Arg251Gly) c.325A>G (p.Arg109Gly) n.4A>G | |
| 20 | g.54164545T>G | CA510909979 | CYP24A1 | c.751A>C (p.Arg251=) c.325A>C (p.Arg109=) n.4A>C | gnomAD v4 |
| 20 | g.54164546C>A | CA510909982 | CYP24A1 | c.750G>T (p.Gly250=) c.324G>T (p.Gly108=) n.3G>T | |
| 20 | g.54164546C>G | CA510909984 | CYP24A1 | c.750G>C (p.Gly250=) c.324G>C (p.Gly108=) n.3G>C | |
| 20 | g.54164546C>T | CA510909986 | CYP24A1 | c.750G>A (p.Gly250=) c.324G>A (p.Gly108=) n.3G>A | |
| 20 | g.54164547C>A | CA409392060 | CYP24A1 | c.749G>T (p.Gly250Val) c.323G>T (p.Gly108Val) n.2G>T | |
| 20 | g.54164547C= | CA2370267521 | CYP24A1 | c.749G= (p.Gly250=) c.323G= (p.Gly108=) n.2G= | |
| 20 | g.54164547C>G | CA409392061 | CYP24A1 | c.749G>C (p.Gly250Ala) c.323G>C (p.Gly108Ala) n.2G>C | |
| 20 | g.54164547C>T | CA316157262 | CYP24A1 | c.749G>A (p.Gly250Glu) c.323G>A (p.Gly108Glu) n.2G>A | dbSNP |
| 20 | g.54164548C>A | CA409392062 | CYP24A1 | c.748G>T (p.Gly250Trp) c.322G>T (p.Gly108Trp) n.1G>T | |
| 20 | g.54164548C>G | CA409392063 | CYP24A1 | c.748G>C (p.Gly250Arg) c.322G>C (p.Gly108Arg) n.1G>C | |
| 20 | g.54164548C>T | CA409392064 | CYP24A1 | c.748G>A (p.Gly250Arg) c.322G>A (p.Gly108Arg) n.1G>A | |
| 20 | g.54164549A>C | CA409392065 | CYP24A1 | c.747T>G (p.Phe249Leu) c.321T>G (p.Phe107Leu) | |
| 20 | g.54164549A>G | CA510909998 | CYP24A1 | c.747T>C (p.Phe249=) c.321T>C (p.Phe107=) | |
| 20 | g.54164549A>T | CA409392066 | CYP24A1 | c.747T>A (p.Phe249Leu) c.321T>A (p.Phe107Leu) | |
| 20 | g.54164551del | CA2653396997 | CYP24A1 | c.747del (p.Phe249LeufsTer4) c.321del (p.Phe107LeufsTer4) | gnomAD v4 |
| 20 | g.54164550A>C | CA409392069 | CYP24A1 | c.746T>G (p.Phe249Cys) c.320T>G (p.Phe107Cys) | |
| 20 | g.54164550A>G | CA409392068 | CYP24A1 | c.746T>C (p.Phe249Ser) c.320T>C (p.Phe107Ser) | |
| 20 | g.54164550A>T | CA409392067 | CYP24A1 | c.746T>A (p.Phe249Tyr) c.320T>A (p.Phe107Tyr) | |
| 20 | g.54164551A= | CA2370267522 | CYP24A1 | c.745T= (p.Phe249=) c.319T= (p.Phe107=) | |
| 20 | g.54164551A>C | CA409392070 | CYP24A1 | c.745T>G (p.Phe249Val) c.319T>G (p.Phe107Val) | |
| 20 | g.54164551A>G | CA409392071 | CYP24A1 | c.745T>C (p.Phe249Leu) c.319T>C (p.Phe107Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54164551A>T | CA409392072 | CYP24A1 | c.745T>A (p.Phe249Ile) c.319T>A (p.Phe107Ile) | |
| 20 | g.54164551_54164553delinsACG | CA2370267523 | CYP24A1 | c.743_745delinsCGT (p.Thr248=) c.317_319delinsCGT (p.Thr106=) | |
| 20 | g.54164552C>A | CA510910008 | CYP24A1 | c.744G>T (p.Thr248=) c.318G>T (p.Thr106=) | |
| 20 | g.54164552C= | CA2370267524 | CYP24A1 | c.744G= (p.Thr248=) c.318G= (p.Thr106=) | |
| 20 | g.54164552C>G | CA510910009 | CYP24A1 | c.744G>C (p.Thr248=) c.318G>C (p.Thr106=) | gnomAD v4 |
| 20 | g.54164552C>T | CA9916012 | CYP24A1 | c.744G>A (p.Thr248=) c.318G>A (p.Thr106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54164552_54164553delinsT | CA920236153 | CYP24A1 | c.743_744delinsA (p.Thr248AsnfsTer5) c.317_318delinsA (p.Thr106AsnfsTer5) | dbSNP |
| 20 | g.54164552_54164553delinsCG | CA2370267525 | CYP24A1 | c.743_744delinsCG (p.Thr248=) c.317_318delinsCG (p.Thr106=) | |
| 20 | g.54164553del | CA920236154 | CYP24A1 | c.743del (p.Thr248SerfsTer5) c.317del (p.Thr106SerfsTer5) | dbSNP |
| 20 | g.54164553G>A | CA9916013 | CYP24A1 | c.743C>T (p.Thr248Met) c.317C>T (p.Thr106Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.54164553G>C | CA316157264 | CYP24A1 | c.743C>G (p.Thr248Arg) c.317C>G (p.Thr106Arg) | dbSNP |
| 20 | g.54164553G= | CA2370267526 | CYP24A1 | c.743C= (p.Thr248=) c.317C= (p.Thr106=) | |
| 20 | g.54164553G>T | CA409392073 | CYP24A1 | c.743C>A (p.Thr248Lys) c.317C>A (p.Thr106Lys) |