UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47846679G>A | CA479434536 | VDR | c.885C>T (p.Tyr295=) c.*887C>T (n.*887C>T) c.1035C>T (p.Tyr345=) c.954C>T (p.Tyr318=) | ClinVar gnomAD v4 COSMIC COSMIC |
| 12 | g.47846679G>C | CA384516207 | VDR | c.885C>G (p.Tyr295Ter) c.*887C>G (n.*887C>G) c.1035C>G (p.Tyr345Ter) c.954C>G (p.Tyr318Ter) | |
| 12 | g.47846679G= | CA2034409823 | VDR | c.885C= (p.Tyr295=) c.*887C= (n.*887C=) c.1035C= (p.Tyr345=) c.954C= (p.Tyr318=) | |
| 12 | g.47846679G>T | CA119022 | VDR | c.885C>A (p.Tyr295Ter) c.*887C>A (n.*887C>A) c.1035C>A (p.Tyr345Ter) c.954C>A (p.Tyr318Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47846680T>A | CA384516212 | VDR | c.884A>T (p.Tyr295Phe) c.*886A>T (n.*886A>T) c.1034A>T (p.Tyr345Phe) c.953A>T (p.Tyr318Phe) | |
| 12 | g.47846680T>C | CA384516216 | VDR | c.884A>G (p.Tyr295Cys) c.*886A>G (n.*886A>G) c.1034A>G (p.Tyr345Cys) c.953A>G (p.Tyr318Cys) | |
| 12 | g.47846680T>G | CA384516218 | VDR | c.884A>C (p.Tyr295Ser) c.*886A>C (n.*886A>C) c.1034A>C (p.Tyr345Ser) c.953A>C (p.Tyr318Ser) | |
| 12 | g.47846681A>C | CA384516220 | VDR | c.883T>G (p.Tyr295Asp) c.*885T>G (n.*885T>G) c.1033T>G (p.Tyr345Asp) c.952T>G (p.Tyr318Asp) | |
| 12 | g.47846681A>G | CA384516222 | VDR | c.883T>C (p.Tyr295His) c.*885T>C (n.*885T>C) c.1033T>C (p.Tyr345His) c.952T>C (p.Tyr318His) | |
| 12 | g.47846681A>T | CA384516224 | VDR | c.883T>A (p.Tyr295Asn) c.*885T>A (n.*885T>A) c.1033T>A (p.Tyr345Asn) c.952T>A (p.Tyr318Asn) | |
| 12 | g.47846682C>A | CA384516227 | VDR | c.882G>T (p.Lys294Asn) c.*884G>T (n.*884G>T) c.1032G>T (p.Lys344Asn) c.951G>T (p.Lys317Asn) | |
| 12 | g.47846682C>G | CA384516230 | VDR | c.882G>C (p.Lys294Asn) c.*884G>C (n.*884G>C) c.1032G>C (p.Lys344Asn) c.951G>C (p.Lys317Asn) | |
| 12 | g.47846682C>T | CA479434537 | VDR | c.882G>A (p.Lys294=) c.*884G>A (n.*884G>A) c.1032G>A (p.Lys344=) c.951G>A (p.Lys317=) | |
| 12 | g.47846683T>A | CA384516235 | VDR | c.881A>T (p.Lys294Met) c.*883A>T (n.*883A>T) c.1031A>T (p.Lys344Met) c.950A>T (p.Lys317Met) | |
| 12 | g.47846683T>C | CA384516238 | VDR | c.881A>G (p.Lys294Arg) c.*883A>G (n.*883A>G) c.1031A>G (p.Lys344Arg) c.950A>G (p.Lys317Arg) | gnomAD v4 |
| 12 | g.47846683T>G | CA384516241 | VDR | c.881A>C (p.Lys294Thr) c.*883A>C (n.*883A>C) c.1031A>C (p.Lys344Thr) c.950A>C (p.Lys317Thr) | |
| 12 | g.47846684T>A | CA384516248 | VDR | c.880A>T (p.Lys294Ter) c.*882A>T (n.*882A>T) c.1030A>T (p.Lys344Ter) c.949A>T (p.Lys317Ter) | |
| 12 | g.47846684T>C | CA384516245 | VDR | c.880A>G (p.Lys294Glu) c.*882A>G (n.*882A>G) c.1030A>G (p.Lys344Glu) c.949A>G (p.Lys317Glu) | |
| 12 | g.47846684T>G | CA384516243 | VDR | c.880A>C (p.Lys294Gln) c.*882A>C (n.*882A>C) c.1030A>C (p.Lys344Gln) c.949A>C (p.Lys317Gln) | |
| 12 | g.47846685G>A | CA479434538 | VDR | c.879C>T (p.Tyr293=) c.*881C>T (n.*881C>T) c.1029C>T (p.Tyr343=) c.948C>T (p.Tyr316=) | |
| 12 | g.47846685G>C | CA384516251 | VDR | c.879C>G (p.Tyr293Ter) c.*881C>G (n.*881C>G) c.1029C>G (p.Tyr343Ter) c.948C>G (p.Tyr316Ter) | |
| 12 | g.47846685G>T | CA384516253 | VDR | c.879C>A (p.Tyr293Ter) c.*881C>A (n.*881C>A) c.1029C>A (p.Tyr343Ter) c.948C>A (p.Tyr316Ter) | |
| 12 | g.47846686T>A | CA384516255 | VDR | c.878A>T (p.Tyr293Phe) c.*880A>T (n.*880A>T) c.1028A>T (p.Tyr343Phe) c.947A>T (p.Tyr316Phe) | |
| 12 | g.47846686T>C | CA384516258 | VDR | c.878A>G (p.Tyr293Cys) c.*880A>G (n.*880A>G) c.1028A>G (p.Tyr343Cys) c.947A>G (p.Tyr316Cys) | |
| 12 | g.47846686T>G | CA384516262 | VDR | c.878A>C (p.Tyr293Ser) c.*880A>C (n.*880A>C) c.1028A>C (p.Tyr343Ser) c.947A>C (p.Tyr316Ser) | |
| 12 | g.47846687A>C | CA384516264 | VDR | c.877T>G (p.Tyr293Asp) c.*879T>G (n.*879T>G) c.1027T>G (p.Tyr343Asp) c.946T>G (p.Tyr316Asp) | |
| 12 | g.47846687A>G | CA384516265 | VDR | c.877T>C (p.Tyr293His) c.*879T>C (n.*879T>C) c.1027T>C (p.Tyr343His) c.946T>C (p.Tyr316His) | |
| 12 | g.47846687A>T | CA384516266 | VDR | c.877T>A (p.Tyr293Asn) c.*879T>A (n.*879T>A) c.1027T>A (p.Tyr343Asn) c.946T>A (p.Tyr316Asn) | |
| 12 | g.47846688G>A | CA479434539 | VDR | c.876C>T (p.Asp292=) c.*878C>T (n.*878C>T) c.1026C>T (p.Asp342=) c.945C>T (p.Asp315=) | |
| 12 | g.47846688G>C | CA384516268 | VDR | c.876C>G (p.Asp292Glu) c.*878C>G (n.*878C>G) c.1026C>G (p.Asp342Glu) c.945C>G (p.Asp315Glu) | |
| 12 | g.47846688G>T | CA384516269 | VDR | c.876C>A (p.Asp292Glu) c.*878C>A (n.*878C>A) c.1026C>A (p.Asp342Glu) c.945C>A (p.Asp315Glu) | |
| 12 | g.47846689T>A | CA6533841 | VDR | c.875A>T (p.Asp292Val) c.*877A>T (n.*877A>T) c.1025A>T (p.Asp342Val) c.944A>T (p.Asp315Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47846689T>C | CA384516273 | VDR | c.875A>G (p.Asp292Gly) c.*877A>G (n.*877A>G) c.1025A>G (p.Asp342Gly) c.944A>G (p.Asp315Gly) | |
| 12 | g.47846689T>G | CA384516276 | VDR | c.875A>C (p.Asp292Ala) c.*877A>C (n.*877A>C) c.1025A>C (p.Asp342Ala) c.944A>C (p.Asp315Ala) | |
| 12 | g.47846689T= | CA2034409824 | VDR | c.875A= (p.Asp292=) c.*877A= (n.*877A=) c.1025A= (p.Asp342=) c.944A= (p.Asp315=) | |
| 12 | g.47846690C>A | CA384516282 | VDR | c.874G>T (p.Asp292Tyr) c.*876G>T (n.*876G>T) c.1024G>T (p.Asp342Tyr) c.943G>T (p.Asp315Tyr) | |
| 12 | g.47846690C= | CA2034409825 | VDR | c.874G= (p.Asp292=) c.*876G= (n.*876G=) c.1024G= (p.Asp342=) c.943G= (p.Asp315=) | |
| 12 | g.47846690C>G | CA6533842 | VDR | c.874G>C (p.Asp292His) c.*876G>C (n.*876G>C) c.1024G>C (p.Asp342His) c.943G>C (p.Asp315His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47846690C>T | CA384516279 | VDR | c.874G>A (p.Asp292Asn) c.*876G>A (n.*876G>A) c.1024G>A (p.Asp342Asn) c.943G>A (p.Asp315Asn) | |
| 12 | g.47846691T>A | CA384516288 | VDR | c.873A>T (p.Gln291His) c.*875A>T (n.*875A>T) c.1023A>T (p.Gln341His) c.942A>T (p.Gln314His) | |
| 12 | g.47846691T>C | CA479434540 | VDR | c.873A>G (p.Gln291=) c.*875A>G (n.*875A>G) c.1023A>G (p.Gln341=) c.942A>G (p.Gln314=) | gnomAD v4 |
| 12 | g.47846691T>G | CA384516289 | VDR | c.873A>C (p.Gln291His) c.*875A>C (n.*875A>C) c.1023A>C (p.Gln341His) c.942A>C (p.Gln314His) | |
| 12 | g.47846692T>A | CA384516292 | VDR | c.872A>T (p.Gln291Leu) c.*874A>T (n.*874A>T) c.1022A>T (p.Gln341Leu) c.941A>T (p.Gln314Leu) | |
| 12 | g.47846692T>C | CA384516293 | VDR | c.872A>G (p.Gln291Arg) c.*874A>G (n.*874A>G) c.1022A>G (p.Gln341Arg) c.941A>G (p.Gln314Arg) | |
| 12 | g.47846692T>G | CA384516296 | VDR | c.872A>C (p.Gln291Pro) c.*874A>C (n.*874A>C) c.1022A>C (p.Gln341Pro) c.941A>C (p.Gln314Pro) | |
| 12 | g.47846693G>A | CA384516301 | VDR | c.871C>T (p.Gln291Ter) c.*873C>T (n.*873C>T) c.1021C>T (p.Gln341Ter) c.940C>T (p.Gln314Ter) | |
| 12 | g.47846693G>C | CA384516303 | VDR | c.871C>G (p.Gln291Glu) c.*873C>G (n.*873C>G) c.1021C>G (p.Gln341Glu) c.940C>G (p.Gln314Glu) | |
| 12 | g.47846693G= | CA2034409826 | VDR | c.871C= (p.Gln291=) c.*873C= (n.*873C=) c.1021C= (p.Gln341=) c.940C= (p.Gln314=) | |
| 12 | g.47846693G>T | CA384516304 | VDR | c.871C>A (p.Gln291Lys) c.*873C>A (n.*873C>A) c.1021C>A (p.Gln341Lys) c.940C>A (p.Gln314Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47846694G>A | CA479434541 | VDR | c.870C>T (p.Asn290=) c.*872C>T (n.*872C>T) c.1020C>T (p.Asn340=) c.939C>T (p.Asn313=) | |
| 12 | g.47846694G>C | CA384516305 | VDR | c.870C>G (p.Asn290Lys) c.*872C>G (n.*872C>G) c.1020C>G (p.Asn340Lys) c.939C>G (p.Asn313Lys) | gnomAD v4 |
| 12 | g.47846694G>T | CA384516306 | VDR | c.870C>A (p.Asn290Lys) c.*872C>A (n.*872C>A) c.1020C>A (p.Asn340Lys) c.939C>A (p.Asn313Lys) | |
| 12 | g.47846695T>A | CA384516307 | VDR | c.869A>T (p.Asn290Ile) c.*871A>T (n.*871A>T) c.1019A>T (p.Asn340Ile) c.938A>T (p.Asn313Ile) | |
| 12 | g.47846695T>C | CA6533843 | VDR | c.869A>G (p.Asn290Ser) c.*871A>G (n.*871A>G) c.1019A>G (p.Asn340Ser) c.938A>G (p.Asn313Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47846695T>G | CA384516310 | VDR | c.869A>C (p.Asn290Thr) c.*871A>C (n.*871A>C) c.1019A>C (p.Asn340Thr) c.938A>C (p.Asn313Thr) | |
| 12 | g.47846695T= | CA2034409827 | VDR | c.869A= (p.Asn290=) c.*871A= (n.*871A=) c.1019A= (p.Asn340=) c.938A= (p.Asn313=) | |
| 12 | g.47846696T>A | CA384516314 | VDR | c.868A>T (p.Asn290Tyr) c.*870A>T (n.*870A>T) c.1018A>T (p.Asn340Tyr) c.937A>T (p.Asn313Tyr) | |
| 12 | g.47846696T>C | CA384516319 | VDR | c.868A>G (p.Asn290Asp) c.*870A>G (n.*870A>G) c.1018A>G (p.Asn340Asp) c.937A>G (p.Asn313Asp) | |
| 12 | g.47846696T>G | CA384516317 | VDR | c.868A>C (p.Asn290His) c.*870A>C (n.*870A>C) c.1018A>C (p.Asn340His) c.937A>C (p.Asn313His) | |
| 12 | g.47846697G>A | CA479434542 | VDR | c.867C>T (p.Gly289=) c.*869C>T (n.*869C>T) c.1017C>T (p.Gly339=) c.936C>T (p.Gly312=) | |
| 12 | g.47846697G>C | CA479434544 | VDR | c.867C>G (p.Gly289=) c.*869C>G (n.*869C>G) c.1017C>G (p.Gly339=) c.936C>G (p.Gly312=) | |
| 12 | g.47846697G>T | CA479434543 | VDR | c.867C>A (p.Gly289=) c.*869C>A (n.*869C>A) c.1017C>A (p.Gly339=) c.936C>A (p.Gly312=) | |
| 12 | g.47846698C>A | CA384516321 | VDR | c.866G>T (p.Gly289Val) c.*868G>T (n.*868G>T) c.1016G>T (p.Gly339Val) c.935G>T (p.Gly312Val) | |
| 12 | g.47846698C>G | CA384516323 | VDR | c.866G>C (p.Gly289Ala) c.*868G>C (n.*868G>C) c.1016G>C (p.Gly339Ala) c.935G>C (p.Gly312Ala) | |
| 12 | g.47846698C>T | CA384516328 | VDR | c.866G>A (p.Gly289Asp) c.*868G>A (n.*868G>A) c.1016G>A (p.Gly339Asp) c.935G>A (p.Gly312Asp) | |
| 12 | g.47846699C>A | CA384516332 | VDR | c.865G>T (p.Gly289Cys) c.*867G>T (n.*867G>T) c.1015G>T (p.Gly339Cys) c.934G>T (p.Gly312Cys) | |
| 12 | g.47846699C>G | CA384516335 | VDR | c.865G>C (p.Gly289Arg) c.*867G>C (n.*867G>C) c.1015G>C (p.Gly339Arg) c.934G>C (p.Gly312Arg) | |
| 12 | g.47846699C>T | CA384516338 | VDR | c.865G>A (p.Gly289Ser) c.*867G>A (n.*867G>A) c.1015G>A (p.Gly339Ser) c.934G>A (p.Gly312Ser) | |
| 12 | g.47846700A>C | CA384516342 | VDR | c.864T>G (p.Cys288Trp) c.*866T>G (n.*866T>G) c.1014T>G (p.Cys338Trp) c.933T>G (p.Cys311Trp) | |
| 12 | g.47846700A>G | CA479434545 | VDR | c.864T>C (p.Cys288=) c.*866T>C (n.*866T>C) c.1014T>C (p.Cys338=) c.933T>C (p.Cys311=) | |
| 12 | g.47846700A>T | CA384516345 | VDR | c.864T>A (p.Cys288Ter) c.*866T>A (n.*866T>A) c.1014T>A (p.Cys338Ter) c.933T>A (p.Cys311Ter) | |
| 12 | g.47846701C>A | CA384516348 | VDR | c.863G>T (p.Cys288Phe) c.*865G>T (n.*865G>T) c.1013G>T (p.Cys338Phe) c.932G>T (p.Cys311Phe) | |
| 12 | g.47846701C>G | CA384516349 | VDR | c.863G>C (p.Cys288Ser) c.*865G>C (n.*865G>C) c.1013G>C (p.Cys338Ser) c.932G>C (p.Cys311Ser) | |
| 12 | g.47846701C>T | CA384516352 | VDR | c.863G>A (p.Cys288Tyr) c.*865G>A (n.*865G>A) c.1013G>A (p.Cys338Tyr) c.932G>A (p.Cys311Tyr) | |
| 12 | g.47846702A>C | CA384516357 | VDR | c.862T>G (p.Cys288Gly) c.*864T>G (n.*864T>G) c.1012T>G (p.Cys338Gly) c.931T>G (p.Cys311Gly) | |
| 12 | g.47846702A>G | CA384516360 | VDR | c.862T>C (p.Cys288Arg) c.*864T>C (n.*864T>C) c.1012T>C (p.Cys338Arg) c.931T>C (p.Cys311Arg) | |
| 12 | g.47846702A>T | CA384516355 | VDR | c.862T>A (p.Cys288Ser) c.*864T>A (n.*864T>A) c.1012T>A (p.Cys338Ser) c.931T>A (p.Cys311Ser) | |
| 12 | g.47846703G>A | CA479434546 | VDR | c.861C>T (p.Thr287=) c.*863C>T (n.*863C>T) c.1011C>T (p.Thr337=) c.930C>T (p.Thr310=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47846703G>C | CA479434548 | VDR | c.861C>G (p.Thr287=) c.*863C>G (n.*863C>G) c.1011C>G (p.Thr337=) c.930C>G (p.Thr310=) | |
| 12 | g.47846703G= | CA2034409828 | VDR | c.861C= (p.Thr287=) c.*863C= (n.*863C=) c.1011C= (p.Thr337=) c.930C= (p.Thr310=) | |
| 12 | g.47846703G>T | CA479434547 | VDR | c.861C>A (p.Thr287=) c.*863C>A (n.*863C>A) c.1011C>A (p.Thr337=) c.930C>A (p.Thr310=) | gnomAD v4 |
| 12 | g.47846704G>A | CA384516367 | VDR | c.860C>T (p.Thr287Ile) c.*862C>T (n.*862C>T) c.1010C>T (p.Thr337Ile) c.929C>T (p.Thr310Ile) | |
| 12 | g.47846704G>C | CA384516364 | VDR | c.860C>G (p.Thr287Ser) c.*862C>G (n.*862C>G) c.1010C>G (p.Thr337Ser) c.929C>G (p.Thr310Ser) | |
| 12 | g.47846704G= | CA2034409829 | VDR | c.860C= (p.Thr287=) c.*862C= (n.*862C=) c.1010C= (p.Thr337=) c.929C= (p.Thr310=) | |
| 12 | g.47846704G>T | CA6533844 | VDR | c.860C>A (p.Thr287Asn) c.*862C>A (n.*862C>A) c.1010C>A (p.Thr337Asn) c.929C>A (p.Thr310Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47846705T>A | CA384516371 | VDR | c.859A>T (p.Thr287Ser) c.*861A>T (n.*861A>T) c.1009A>T (p.Thr337Ser) c.928A>T (p.Thr310Ser) | |
| 12 | g.47846705T>C | CA384516375 | VDR | c.859A>G (p.Thr287Ala) c.*861A>G (n.*861A>G) c.1009A>G (p.Thr337Ala) c.928A>G (p.Thr310Ala) | |
| 12 | g.47846705T>G | CA384516376 | VDR | c.859A>C (p.Thr287Pro) c.*861A>C (n.*861A>C) c.1009A>C (p.Thr337Pro) c.928A>C (p.Thr310Pro) | |
| 12 | g.47846706C>A | CA384516378 | VDR | c.858G>T (p.Trp286Cys) c.*860G>T (n.*860G>T) c.1008G>T (p.Trp336Cys) c.927G>T (p.Trp309Cys) | |
| 12 | g.47846706C>G | CA384516381 | VDR | c.858G>C (p.Trp286Cys) c.*860G>C (n.*860G>C) c.1008G>C (p.Trp336Cys) c.927G>C (p.Trp309Cys) | |
| 12 | g.47846706C>T | CA384516383 | VDR | c.858G>A (p.Trp286Ter) c.*860G>A (n.*860G>A) c.1008G>A (p.Trp336Ter) c.927G>A (p.Trp309Ter) | |
| 12 | g.47846707C>A | CA384516385 | VDR | c.857G>T (p.Trp286Leu) c.*859G>T (n.*859G>T) c.1007G>T (p.Trp336Leu) c.926G>T (p.Trp309Leu) | |
| 12 | g.47846707C>G | CA384516386 | VDR | c.857G>C (p.Trp286Ser) c.*859G>C (n.*859G>C) c.1007G>C (p.Trp336Ser) c.926G>C (p.Trp309Ser) | |
| 12 | g.47846707C>T | CA384516388 | VDR | c.857G>A (p.Trp286Ter) c.*859G>A (n.*859G>A) c.1007G>A (p.Trp336Ter) c.926G>A (p.Trp309Ter) | |
| 12 | g.47846708A>C | CA384516390 | VDR | c.856T>G (p.Trp286Gly) c.*858T>G (n.*858T>G) c.1006T>G (p.Trp336Gly) c.925T>G (p.Trp309Gly) | |
| 12 | g.47846708A>G | CA384516392 | VDR | c.856T>C (p.Trp286Arg) c.*858T>C (n.*858T>C) c.1006T>C (p.Trp336Arg) c.925T>C (p.Trp309Arg) | ClinVar |
| 12 | g.47846708A>T | CA384516394 | VDR | c.856T>A (p.Trp286Arg) c.*858T>A (n.*858T>A) c.1006T>A (p.Trp336Arg) c.925T>A (p.Trp309Arg) | |
| 12 | g.47846709G>A | CA479434549 | VDR | c.855C>T (p.Ser285=) c.*857C>T (n.*857C>T) c.1005C>T (p.Ser335=) c.924C>T (p.Ser308=) | gnomAD v4 |
| 12 | g.47846709G>C | CA479434550 | VDR | c.855C>G (p.Ser285=) c.*857C>G (n.*857C>G) c.1005C>G (p.Ser335=) c.924C>G (p.Ser308=) | |
| 12 | g.47846709G>T | CA479434551 | VDR | c.855C>A (p.Ser285=) c.*857C>A (n.*857C>A) c.1005C>A (p.Ser335=) c.924C>A (p.Ser308=) | |
| 12 | g.47846710G>A | CA384516399 | VDR | c.854C>T (p.Ser285Phe) c.*856C>T (n.*856C>T) c.1004C>T (p.Ser335Phe) c.923C>T (p.Ser308Phe) | |
| 12 | g.47846710G>C | CA384516396 | VDR | c.854C>G (p.Ser285Cys) c.*856C>G (n.*856C>G) c.1004C>G (p.Ser335Cys) c.923C>G (p.Ser308Cys) | |
| 12 | g.47846710G>T | CA384516397 | VDR | c.854C>A (p.Ser285Tyr) c.*856C>A (n.*856C>A) c.1004C>A (p.Ser335Tyr) c.923C>A (p.Ser308Tyr) | |
| 12 | g.47846711A>C | CA384516402 | VDR | c.853T>G (p.Ser285Ala) c.*855T>G (n.*855T>G) c.1003T>G (p.Ser335Ala) c.922T>G (p.Ser308Ala) | |
| 12 | g.47846711A>G | CA384516403 | VDR | c.853T>C (p.Ser285Pro) c.*855T>C (n.*855T>C) c.1003T>C (p.Ser335Pro) c.922T>C (p.Ser308Pro) | gnomAD v4 |
| 12 | g.47846711A>T | CA384516405 | VDR | c.853T>A (p.Ser285Thr) c.*855T>A (n.*855T>A) c.1003T>A (p.Ser335Thr) c.922T>A (p.Ser308Thr) | |
| 12 | g.47846712C>A | CA384516408 | VDR | c.852G>T (p.Met284Ile) c.*854G>T (n.*854G>T) c.1002G>T (p.Met334Ile) c.921G>T (p.Met307Ile) | |
| 12 | g.47846712C>G | CA384516409 | VDR | c.852G>C (p.Met284Ile) c.*854G>C (n.*854G>C) c.1002G>C (p.Met334Ile) c.921G>C (p.Met307Ile) | |
| 12 | g.47846712C>T | CA384516410 | VDR | c.852G>A (p.Met284Ile) c.*854G>A (n.*854G>A) c.1002G>A (p.Met334Ile) c.921G>A (p.Met307Ile) | |
| 12 | g.47846713A>C | CA384516412 | VDR | c.851T>G (p.Met284Arg) c.*853T>G (n.*853T>G) c.1001T>G (p.Met334Arg) c.920T>G (p.Met307Arg) | |
| 12 | g.47846713A>G | CA384516414 | VDR | c.851T>C (p.Met284Thr) c.*853T>C (n.*853T>C) c.1001T>C (p.Met334Thr) c.920T>C (p.Met307Thr) | gnomAD v4 |
| 12 | g.47846713A>T | CA384516415 | VDR | c.851T>A (p.Met284Lys) c.*853T>A (n.*853T>A) c.1001T>A (p.Met334Lys) c.920T>A (p.Met307Lys) | |
| 12 | g.47846714T>A | CA384516418 | VDR | c.850A>T (p.Met284Leu) c.*852A>T (n.*852A>T) c.1000A>T (p.Met334Leu) c.919A>T (p.Met307Leu) | |
| 12 | g.47846714T>C | CA384516419 | VDR | c.850A>G (p.Met284Val) c.*852A>G (n.*852A>G) c.1000A>G (p.Met334Val) c.919A>G (p.Met307Val) | |
| 12 | g.47846714T>G | CA384516421 | VDR | c.850A>C (p.Met284Leu) c.*852A>C (n.*852A>C) c.1000A>C (p.Met334Leu) c.919A>C (p.Met307Leu) | |
| 12 | g.47846715G>A | CA479434552 | VDR | c.849C>T (p.Asp283=) c.*851C>T (n.*851C>T) c.999C>T (p.Asp333=) c.918C>T (p.Asp306=) | |
| 12 | g.47846715G>C | CA384516425 | VDR | c.849C>G (p.Asp283Glu) c.*851C>G (n.*851C>G) c.999C>G (p.Asp333Glu) c.918C>G (p.Asp306Glu) | |
| 12 | g.47846715G>T | CA384516423 | VDR | c.849C>A (p.Asp283Glu) c.*851C>A (n.*851C>A) c.999C>A (p.Asp333Glu) c.918C>A (p.Asp306Glu) | |
| 12 | g.47846716T>A | CA384516427 | VDR | c.848A>T (p.Asp283Val) c.*850A>T (n.*850A>T) c.998A>T (p.Asp333Val) c.917A>T (p.Asp306Val) | |
| 12 | g.47846716T>C | CA384516429 | VDR | c.848A>G (p.Asp283Gly) c.*850A>G (n.*850A>G) c.998A>G (p.Asp333Gly) c.917A>G (p.Asp306Gly) | |
| 12 | g.47846716T>G | CA384516431 | VDR | c.848A>C (p.Asp283Ala) c.*850A>C (n.*850A>C) c.998A>C (p.Asp333Ala) c.917A>C (p.Asp306Ala) | |
| 12 | g.47846717C>A | CA384516432 | VDR | c.847G>T (p.Asp283Tyr) c.*849G>T (n.*849G>T) c.997G>T (p.Asp333Tyr) c.916G>T (p.Asp306Tyr) | |
| 12 | g.47846717C= | CA2034409830 | VDR | c.847G= (p.Asp283=) c.*849G= (n.*849G=) c.997G= (p.Asp333=) c.916G= (p.Asp306=) | |
| 12 | g.47846717C>G | CA384516434 | VDR | c.847G>C (p.Asp283His) c.*849G>C (n.*849G>C) c.997G>C (p.Asp333His) c.916G>C (p.Asp306His) | COSMIC COSMIC |
| 12 | g.47846717C>T | CA236507822 | VDR | c.847G>A (p.Asp283Asn) c.*849G>A (n.*849G>A) c.997G>A (p.Asp333Asn) c.916G>A (p.Asp306Asn) | dbSNP |
| 12 | g.47846718G>A | CA6533845 | VDR | c.846C>T (p.Asp282=) c.*848C>T (n.*848C>T) c.996C>T (p.Asp332=) c.915C>T (p.Asp305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47846718G>C | CA384516440 | VDR | c.846C>G (p.Asp282Glu) c.*848C>G (n.*848C>G) c.996C>G (p.Asp332Glu) c.915C>G (p.Asp305Glu) | dbSNP gnomAD v4 |
| 12 | g.47846718G= | CA2034409831 | VDR | c.846C= (p.Asp282=) c.*848C= (n.*848C=) c.996C= (p.Asp332=) c.915C= (p.Asp305=) | |
| 12 | g.47846718G>T | CA384516439 | VDR | c.846C>A (p.Asp282Glu) c.*848C>A (n.*848C>A) c.996C>A (p.Asp332Glu) c.915C>A (p.Asp305Glu) | |
| 12 | g.47846719T>A | CA384516443 | VDR | c.845A>T (p.Asp282Val) c.*847A>T (n.*847A>T) c.995A>T (p.Asp332Val) c.914A>T (p.Asp305Val) | |
| 12 | g.47846719T>C | CA384516447 | VDR | c.845A>G (p.Asp282Gly) c.*847A>G (n.*847A>G) c.995A>G (p.Asp332Gly) c.914A>G (p.Asp305Gly) | ClinVar |
| 12 | g.47846719T>G | CA384516450 | VDR | c.845A>C (p.Asp282Ala) c.*847A>C (n.*847A>C) c.995A>C (p.Asp332Ala) c.914A>C (p.Asp305Ala) | |
| 12 | g.47846720C>A | CA384516454 | VDR | c.844G>T (p.Asp282Tyr) c.*846G>T (n.*846G>T) c.994G>T (p.Asp332Tyr) c.913G>T (p.Asp305Tyr) | |
| 12 | g.47846720C>G | CA384516457 | VDR | c.844G>C (p.Asp282His) c.*846G>C (n.*846G>C) c.994G>C (p.Asp332His) c.913G>C (p.Asp305His) | |
| 12 | g.47846720C>T | CA384516459 | VDR | c.844G>A (p.Asp282Asn) c.*846G>A (n.*846G>A) c.994G>A (p.Asp332Asn) c.913G>A (p.Asp305Asn) | |
| 12 | g.47846721C>A | CA384516462 | VDR | c.843G>T (p.Met281Ile) c.*845G>T (n.*845G>T) c.993G>T (p.Met331Ile) c.912G>T (p.Met304Ile) | |
| 12 | g.47846721C>G | CA384516467 | VDR | c.843G>C (p.Met281Ile) c.*845G>C (n.*845G>C) c.993G>C (p.Met331Ile) c.912G>C (p.Met304Ile) | |
| 12 | g.47846721C>T | CA384516464 | VDR | c.843G>A (p.Met281Ile) c.*845G>A (n.*845G>A) c.993G>A (p.Met331Ile) c.912G>A (p.Met304Ile) | |
| 12 | g.47846722A= | CA2034409832 | VDR | c.842T= (p.Met281=) c.*844T= (n.*844T=) c.992T= (p.Met331=) c.911T= (p.Met304=) | |
| 12 | g.47846722A>C | CA384516471 | VDR | c.842T>G (p.Met281Arg) c.*844T>G (n.*844T>G) c.992T>G (p.Met331Arg) c.911T>G (p.Met304Arg) | |
| 12 | g.47846722A>G | CA6533846 | VDR | c.842T>C (p.Met281Thr) c.*844T>C (n.*844T>C) c.992T>C (p.Met331Thr) c.911T>C (p.Met304Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47846722A>T | CA384516472 | VDR | c.842T>A (p.Met281Lys) c.*844T>A (n.*844T>A) c.992T>A (p.Met331Lys) c.911T>A (p.Met304Lys) | |
| 12 | g.47846723T>A | CA384516475 | VDR | c.841A>T (p.Met281Leu) c.*843A>T (n.*843A>T) c.991A>T (p.Met331Leu) c.910A>T (p.Met304Leu) | |
| 12 | g.47846723T>C | CA384516478 | VDR | c.841A>G (p.Met281Val) c.*843A>G (n.*843A>G) c.991A>G (p.Met331Val) c.910A>G (p.Met304Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47846723T>G | CA384516480 | VDR | c.841A>C (p.Met281Leu) c.*843A>C (n.*843A>C) c.991A>C (p.Met331Leu) c.910A>C (p.Met304Leu) | |
| 12 | g.47846723T= | CA2034409833 | VDR | c.841A= (p.Met281=) c.*843A= (n.*843A=) c.991A= (p.Met331=) c.910A= (p.Met304=) | |
| 12 | g.47846724G>A | CA479434553 | VDR | c.840C>T (p.Thr280=) c.*842C>T (n.*842C>T) c.990C>T (p.Thr330=) c.909C>T (p.Thr303=) | |
| 12 | g.47846724G>C | CA479434554 | VDR | c.840C>G (p.Thr280=) c.*842C>G (n.*842C>G) c.990C>G (p.Thr330=) c.909C>G (p.Thr303=) | |
| 12 | g.47846724G>T | CA479434555 | VDR | c.840C>A (p.Thr280=) c.*842C>A (n.*842C>A) c.990C>A (p.Thr330=) c.909C>A (p.Thr303=) | |
| 12 | g.47846725G>A | CA384516482 | VDR | c.839C>T (p.Thr280Ile) c.*841C>T (n.*841C>T) c.989C>T (p.Thr330Ile) c.908C>T (p.Thr303Ile) | |
| 12 | g.47846725G>C | CA384516486 | VDR | c.839C>G (p.Thr280Ser) c.*841C>G (n.*841C>G) c.989C>G (p.Thr330Ser) c.908C>G (p.Thr303Ser) | |
| 12 | g.47846725G>T | CA384516488 | VDR | c.839C>A (p.Thr280Asn) c.*841C>A (n.*841C>A) c.989C>A (p.Thr330Asn) c.908C>A (p.Thr303Asn) | |
| 12 | g.47846726T>A | CA384516490 | VDR | c.838A>T (p.Thr280Ser) c.*840A>T (n.*840A>T) c.988A>T (p.Thr330Ser) c.907A>T (p.Thr303Ser) | |
| 12 | g.47846726T>C | CA384516492 | VDR | c.838A>G (p.Thr280Ala) c.*840A>G (n.*840A>G) c.988A>G (p.Thr330Ala) c.907A>G (p.Thr303Ala) | |
| 12 | g.47846726T>G | CA384516494 | VDR | c.838A>C (p.Thr280Pro) c.*840A>C (n.*840A>C) c.988A>C (p.Thr330Pro) c.907A>C (p.Thr303Pro) | gnomAD v4 |
| 12 | g.47846727G>A | CA479434556 | VDR | c.837C>T (p.Phe279=) c.*839C>T (n.*839C>T) c.987C>T (p.Phe329=) c.906C>T (p.Phe302=) | gnomAD v4 COSMIC COSMIC |
| 12 | g.47846727G>C | CA384516498 | VDR | c.837C>G (p.Phe279Leu) c.*839C>G (n.*839C>G) c.987C>G (p.Phe329Leu) c.906C>G (p.Phe302Leu) | |
| 12 | g.47846727G>T | CA384516500 | VDR | c.837C>A (p.Phe279Leu) c.*839C>A (n.*839C>A) c.987C>A (p.Phe329Leu) c.906C>A (p.Phe302Leu) | |
| 12 | g.47846728A>C | CA384516504 | VDR | c.836T>G (p.Phe279Cys) c.*838T>G (n.*838T>G) c.986T>G (p.Phe329Cys) c.905T>G (p.Phe302Cys) | |
| 12 | g.47846728A>G | CA384516506 | VDR | c.836T>C (p.Phe279Ser) c.*838T>C (n.*838T>C) c.986T>C (p.Phe329Ser) c.905T>C (p.Phe302Ser) | |
| 12 | g.47846728A>T | CA384516509 | VDR | c.836T>A (p.Phe279Tyr) c.*838T>A (n.*838T>A) c.986T>A (p.Phe329Tyr) c.905T>A (p.Phe302Tyr) | |
| 12 | g.47846729A>C | CA384516511 | VDR | c.835T>G (p.Phe279Val) c.*837T>G (n.*837T>G) c.985T>G (p.Phe329Val) c.904T>G (p.Phe302Val) | |
| 12 | g.47846729A>G | CA384516512 | VDR | c.835T>C (p.Phe279Leu) c.*837T>C (n.*837T>C) c.985T>C (p.Phe329Leu) c.904T>C (p.Phe302Leu) | |
| 12 | g.47846729A>T | CA384516513 | VDR | c.835T>A (p.Phe279Ile) c.*837T>A (n.*837T>A) c.985T>A (p.Phe329Ile) c.904T>A (p.Phe302Ile) | |
| 12 | g.47846729_47846730delinsAG | CA2034409834 | VDR | c.834_835delinsCT (p.Ser278=) c.*836_*837delinsCT (n.*836_*837delinsCT) c.984_985delinsCT (p.Ser328=) c.903_904delinsCT (p.Ser301=) | |
| 12 | g.47846730G>A | CA479434557 | VDR | c.834C>T (p.Ser278=) c.*836C>T (n.*836C>T) c.984C>T (p.Ser328=) c.903C>T (p.Ser301=) | ClinVar COSMIC COSMIC |
| 12 | g.47846730G>C | CA479434558 | VDR | c.834C>G (p.Ser278=) c.*836C>G (n.*836C>G) c.984C>G (p.Ser328=) c.903C>G (p.Ser301=) | |
| 12 | g.47846730G>T | CA479434559 | VDR | c.834C>A (p.Ser278=) c.*836C>A (n.*836C>A) c.984C>A (p.Ser328=) c.903C>A (p.Ser301=) | |
| 12 | g.47846731del | CA2034409835 | VDR | c.834del (p.Phe279SerfsTer22) c.*836del (n.*836del) c.984del (p.Phe329SerfsTer22) c.903del (p.Phe302SerfsTer22) | dbSNP |
| 12 | g.47846731G>A | CA384516516 | VDR | c.833C>T (p.Ser278Phe) c.*835C>T (n.*835C>T) c.983C>T (p.Ser328Phe) c.902C>T (p.Ser301Phe) | |
| 12 | g.47846731G>C | CA384516524 | VDR | c.833C>G (p.Ser278Cys) c.*835C>G (n.*835C>G) c.983C>G (p.Ser328Cys) c.902C>G (p.Ser301Cys) | |
| 12 | g.47846731G= | CA2034409836 | VDR | c.833C= (p.Ser278=) c.*835C= (n.*835C=) c.983C= (p.Ser328=) c.902C= (p.Ser301=) | |
| 12 | g.47846731G>T | CA384516526 | VDR | c.833C>A (p.Ser278Tyr) c.*835C>A (n.*835C>A) c.983C>A (p.Ser328Tyr) c.902C>A (p.Ser301Tyr) | |
| 12 | g.47846731_47846732insT | CA1139662590 | VDR | c.832_833insA (p.Ser278TyrfsTer22) c.*834_*835insA (n.*834_*835insA) c.982_983insA (p.Ser328TyrfsTer22) c.901_902insA (p.Ser301TyrfsTer22) | ClinVar dbSNP |
| 12 | g.47846732A>C | CA384516529 | VDR | c.832T>G (p.Ser278Ala) c.*834T>G (n.*834T>G) c.982T>G (p.Ser328Ala) c.901T>G (p.Ser301Ala) | |
| 12 | g.47846732A>G | CA384516531 | VDR | c.832T>C (p.Ser278Pro) c.*834T>C (n.*834T>C) c.982T>C (p.Ser328Pro) c.901T>C (p.Ser301Pro) | |
| 12 | g.47846732A>T | CA384516534 | VDR | c.832T>A (p.Ser278Thr) c.*834T>A (n.*834T>A) c.982T>A (p.Ser328Thr) c.901T>A (p.Ser301Thr) | |
| 12 | g.47846733del | CA2618500361 | VDR | c.831del (p.Glu277AspfsTer24) c.*833del (n.*833del) c.981del (p.Glu327AspfsTer24) c.900del (p.Glu300AspfsTer24) | gnomAD v4 |
| 12 | g.47846733C>A | CA384516537 | VDR | c.831G>T (p.Glu277Asp) c.*833G>T (n.*833G>T) c.981G>T (p.Glu327Asp) c.900G>T (p.Glu300Asp) | |
| 12 | g.47846733C>G | CA384516539 | VDR | c.831G>C (p.Glu277Asp) c.*833G>C (n.*833G>C) c.981G>C (p.Glu327Asp) c.900G>C (p.Glu300Asp) | |
| 12 | g.47846733C>T | CA479434560 | VDR | c.831G>A (p.Glu277=) c.*833G>A (n.*833G>A) c.981G>A (p.Glu327=) c.900G>A (p.Glu300=) | gnomAD v4 |
| 12 | g.47846734T>A | CA384516545 | VDR | c.830A>T (p.Glu277Val) c.*832A>T (n.*832A>T) c.980A>T (p.Glu327Val) c.899A>T (p.Glu300Val) | |
| 12 | g.47846734T>C | CA384516544 | VDR | c.830A>G (p.Glu277Gly) c.*832A>G (n.*832A>G) c.980A>G (p.Glu327Gly) c.899A>G (p.Glu300Gly) | |
| 12 | g.47846734T>G | CA384516543 | VDR | c.830A>C (p.Glu277Ala) c.*832A>C (n.*832A>C) c.980A>C (p.Glu327Ala) c.899A>C (p.Glu300Ala) | |
| 12 | g.47846735C>A | CA384516546 | VDR | c.829G>T (p.Glu277Ter) c.*831G>T (n.*831G>T) c.979G>T (p.Glu327Ter) c.898G>T (p.Glu300Ter) | gnomAD v4 |
| 12 | g.47846735C>G | CA384516547 | VDR | c.829G>C (p.Glu277Gln) c.*831G>C (n.*831G>C) c.979G>C (p.Glu327Gln) c.898G>C (p.Glu300Gln) | |
| 12 | g.47846735C>T | CA384516548 | VDR | c.829G>A (p.Glu277Lys) c.*831G>A (n.*831G>A) c.979G>A (p.Glu327Lys) c.898G>A (p.Glu300Lys) | |
| 12 | g.47846736A>C | CA384516551 | VDR | c.828T>G (p.Asn276Lys) c.*830T>G (n.*830T>G) c.978T>G (p.Asn326Lys) c.897T>G (p.Asn299Lys) | gnomAD v4 |
| 12 | g.47846736A>G | CA479434561 | VDR | c.828T>C (p.Asn276=) c.*830T>C (n.*830T>C) c.978T>C (p.Asn326=) c.897T>C (p.Asn299=) | |
| 12 | g.47846736A>T | CA384516554 | VDR | c.828T>A (p.Asn276Lys) c.*830T>A (n.*830T>A) c.978T>A (p.Asn326Lys) c.897T>A (p.Asn299Lys) | |
| 12 | g.47846737T>A | CA384516557 | VDR | c.827A>T (p.Asn276Ile) c.*829A>T (n.*829A>T) c.977A>T (p.Asn326Ile) c.896A>T (p.Asn299Ile) | |
| 12 | g.47846737T>C | CA384516559 | VDR | c.827A>G (p.Asn276Ser) c.*829A>G (n.*829A>G) c.977A>G (p.Asn326Ser) c.896A>G (p.Asn299Ser) | dbSNP gnomAD v4 |
| 12 | g.47846737T>G | CA384516560 | VDR | c.827A>C (p.Asn276Thr) c.*829A>C (n.*829A>C) c.977A>C (p.Asn326Thr) c.896A>C (p.Asn299Thr) | |
| 12 | g.47846738T>A | CA384516561 | VDR | c.826A>T (p.Asn276Tyr) c.*828A>T (n.*828A>T) c.976A>T (p.Asn326Tyr) c.895A>T (p.Asn299Tyr) | |
| 12 | g.47846738T>C | CA384516562 | VDR | c.826A>G (p.Asn276Asp) c.*828A>G (n.*828A>G) c.976A>G (p.Asn326Asp) c.895A>G (p.Asn299Asp) | |
| 12 | g.47846738T>G | CA384516564 | VDR | c.826A>C (p.Asn276His) c.*828A>C (n.*828A>C) c.976A>C (p.Asn326His) c.895A>C (p.Asn299His) | |
| 12 | g.47846739G>A | CA479434562 | VDR | c.825C>T (p.Ser275=) c.*827C>T (n.*827C>T) c.975C>T (p.Ser325=) c.894C>T (p.Ser298=) | |
| 12 | g.47846739G>C | CA479434563 | VDR | c.825C>G (p.Ser275=) c.*827C>G (n.*827C>G) c.975C>G (p.Ser325=) c.894C>G (p.Ser298=) | |
| 12 | g.47846739G>T | CA479434564 | VDR | c.825C>A (p.Ser275=) c.*827C>A (n.*827C>A) c.975C>A (p.Ser325=) c.894C>A (p.Ser298=) | |
| 12 | g.47846740G>A | CA384516566 | VDR | c.824C>T (p.Ser275Phe) c.*826C>T (n.*826C>T) c.974C>T (p.Ser325Phe) c.893C>T (p.Ser298Phe) | ClinVar |
| 12 | g.47846740G>C | CA384516568 | VDR | c.824C>G (p.Ser275Cys) c.*826C>G (n.*826C>G) c.974C>G (p.Ser325Cys) c.893C>G (p.Ser298Cys) | |
| 12 | g.47846740G>T | CA384516570 | VDR | c.824C>A (p.Ser275Tyr) c.*826C>A (n.*826C>A) c.974C>A (p.Ser325Tyr) c.893C>A (p.Ser298Tyr) | |
| 12 | g.47846741A>C | CA384516576 | VDR | c.823T>G (p.Ser275Ala) c.*825T>G (n.*825T>G) c.973T>G (p.Ser325Ala) c.892T>G (p.Ser298Ala) | |
| 12 | g.47846741A>G | CA384516577 | VDR | c.823T>C (p.Ser275Pro) c.*825T>C (n.*825T>C) c.973T>C (p.Ser325Pro) c.892T>C (p.Ser298Pro) | |
| 12 | g.47846741A>T | CA384516574 | VDR | c.823T>A (p.Ser275Thr) c.*825T>A (n.*825T>A) c.973T>A (p.Ser325Thr) c.892T>A (p.Ser298Thr) | |
| 12 | g.47846742G>A | CA479434566 | VDR | c.822C>T (p.Arg274=) c.*824C>T (n.*824C>T) c.972C>T (p.Arg324=) c.891C>T (p.Arg297=) | |
| 12 | g.47846742G>C | CA479434567 | VDR | c.822C>G (p.Arg274=) c.*824C>G (n.*824C>G) c.972C>G (p.Arg324=) c.891C>G (p.Arg297=) | |
| 12 | g.47846742G>T | CA479434565 | VDR | c.822C>A (p.Arg274=) c.*824C>A (n.*824C>A) c.972C>A (p.Arg324=) c.891C>A (p.Arg297=) | |
| 12 | g.47846743C>A | CA119032 | VDR | c.821G>T (p.Arg274Leu) c.*823G>T (n.*823G>T) c.971G>T (p.Arg324Leu) c.890G>T (p.Arg297Leu) | ClinVar dbSNP |
| 12 | g.47846743C= | CA2034409837 | VDR | c.821G= (p.Arg274=) c.*823G= (n.*823G=) c.971G= (p.Arg324=) c.890G= (p.Arg297=) | |
| 12 | g.47846743C>G | CA384516581 | VDR | c.821G>C (p.Arg274Pro) c.*823G>C (n.*823G>C) c.971G>C (p.Arg324Pro) c.890G>C (p.Arg297Pro) | ClinVar dbSNP |
| 12 | g.47846743C>T | CA384516583 | VDR | c.821G>A (p.Arg274His) c.*823G>A (n.*823G>A) c.971G>A (p.Arg324His) c.890G>A (p.Arg297His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47846744G>A | CA6533847 | VDR | c.820C>T (p.Arg274Cys) c.*822C>T (n.*822C>T) c.970C>T (p.Arg324Cys) c.889C>T (p.Arg297Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.47846744G>C | CA384516586 | VDR | c.820C>G (p.Arg274Gly) c.*822C>G (n.*822C>G) c.970C>G (p.Arg324Gly) c.889C>G (p.Arg297Gly) | |
| 12 | g.47846744G= | CA2034409838 | VDR | c.820C= (p.Arg274=) c.*822C= (n.*822C=) c.970C= (p.Arg324=) c.889C= (p.Arg297=) | |
| 12 | g.47846744G>T | CA384516590 | VDR | c.820C>A (p.Arg274Ser) c.*822C>A (n.*822C>A) c.970C>A (p.Arg324Ser) c.889C>A (p.Arg297Ser) | |
| 12 | g.47846745C>A | CA384516601 | VDR | c.819G>T (p.Leu273Phe) c.*821G>T (n.*821G>T) c.969G>T (p.Leu323Phe) c.888G>T (p.Leu296Phe) | |
| 12 | g.47846745C>G | CA384516598 | VDR | c.819G>C (p.Leu273Phe) c.*821G>C (n.*821G>C) c.969G>C (p.Leu323Phe) c.888G>C (p.Leu296Phe) | |
| 12 | g.47846745C>T | CA479434568 | VDR | c.819G>A (p.Leu273=) c.*821G>A (n.*821G>A) c.969G>A (p.Leu323=) c.888G>A (p.Leu296=) | gnomAD v4 |
| 12 | g.47846746A= | CA2034409839 | VDR | c.818T= (p.Leu273=) c.*820T= (n.*820T=) c.968T= (p.Leu323=) c.887T= (p.Leu296=) | |
| 12 | g.47846746A>C | CA384516604 | VDR | c.818T>G (p.Leu273Trp) c.*820T>G (n.*820T>G) c.968T>G (p.Leu323Trp) c.887T>G (p.Leu296Trp) | dbSNP |
| 12 | g.47846746A>G | CA384516607 | VDR | c.818T>C (p.Leu273Ser) c.*820T>C (n.*820T>C) c.968T>C (p.Leu323Ser) c.887T>C (p.Leu296Ser) | |
| 12 | g.47846746A>T | CA384516609 | VDR | c.818T>A (p.Leu273Ter) c.*820T>A (n.*820T>A) c.968T>A (p.Leu323Ter) c.887T>A (p.Leu296Ter) | |
| 12 | g.47846747A= | CA2034409840 | VDR | c.817T= (p.Leu273=) c.*819T= (n.*819T=) c.967T= (p.Leu323=) c.886T= (p.Leu296=) | |
| 12 | g.47846747A>C | CA384516612 | VDR | c.817T>G (p.Leu273Val) c.*819T>G (n.*819T>G) c.967T>G (p.Leu323Val) c.886T>G (p.Leu296Val) | |
| 12 | g.47846747A>G | CA6533848 | VDR | c.817T>C (p.Leu273=) c.*819T>C (n.*819T>C) c.967T>C (p.Leu323=) c.886T>C (p.Leu296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47846747A>T | CA384516617 | VDR | c.817T>A (p.Leu273Met) c.*819T>A (n.*819T>A) c.967T>A (p.Leu323Met) c.886T>A (p.Leu296Met) | |
| 12 | g.47846748C>A | CA384516621 | VDR | c.816G>T (p.Met272Ile) c.*818G>T (n.*818G>T) c.966G>T (p.Met322Ile) c.885G>T (p.Met295Ile) | |
| 12 | g.47846748C= | CA2034409841 | VDR | c.816G= (p.Met272=) c.*818G= (n.*818G=) c.966G= (p.Met322=) c.885G= (p.Met295=) | |
| 12 | g.47846748C>G | CA384516627 | VDR | c.816G>C (p.Met272Ile) c.*818G>C (n.*818G>C) c.966G>C (p.Met322Ile) c.885G>C (p.Met295Ile) | |
| 12 | g.47846748C>T | CA384516624 | VDR | c.816G>A (p.Met272Ile) c.*818G>A (n.*818G>A) c.966G>A (p.Met322Ile) c.885G>A (p.Met295Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47846749A>C | CA384516630 | VDR | c.815T>G (p.Met272Arg) c.*817T>G (n.*817T>G) c.965T>G (p.Met322Arg) c.884T>G (p.Met295Arg) | |
| 12 | g.47846749A>G | CA384516631 | VDR | c.815T>C (p.Met272Thr) c.*817T>C (n.*817T>C) c.965T>C (p.Met322Thr) c.884T>C (p.Met295Thr) | |
| 12 | g.47846749A>T | CA384516632 | VDR | c.815T>A (p.Met272Lys) c.*817T>A (n.*817T>A) c.965T>A (p.Met322Lys) c.884T>A (p.Met295Lys) | |
| 12 | g.47846750T>A | CA384516633 | VDR | c.814A>T (p.Met272Leu) c.*816A>T (n.*816A>T) c.964A>T (p.Met322Leu) c.883A>T (p.Met295Leu) | |
| 12 | g.47846750T>C | CA384516635 | VDR | c.814A>G (p.Met272Val) c.*816A>G (n.*816A>G) c.964A>G (p.Met322Val) c.883A>G (p.Met295Val) | |
| 12 | g.47846750T>G | CA384516638 | VDR | c.814A>C (p.Met272Leu) c.*816A>C (n.*816A>C) c.964A>C (p.Met322Leu) c.883A>C (p.Met295Leu) | |
| 12 | g.47846751G>A | CA479434569 | VDR | c.813C>T (p.Ile271=) c.*815C>T (n.*815C>T) c.963C>T (p.Ile321=) c.882C>T (p.Ile294=) | |
| 12 | g.47846751G>C | CA384516640 | VDR | c.813C>G (p.Ile271Met) c.*815C>G (n.*815C>G) c.963C>G (p.Ile321Met) c.882C>G (p.Ile294Met) | |
| 12 | g.47846751G>T | CA479434570 | VDR | c.813C>A (p.Ile271=) c.*815C>A (n.*815C>A) c.963C>A (p.Ile321=) c.882C>A (p.Ile294=) | |
| 12 | g.47846752A>C | CA384516641 | VDR | c.812T>G (p.Ile271Ser) c.*814T>G (n.*814T>G) c.962T>G (p.Ile321Ser) c.881T>G (p.Ile294Ser) | |
| 12 | g.47846752A>G | CA384516643 | VDR | c.812T>C (p.Ile271Thr) c.*814T>C (n.*814T>C) c.962T>C (p.Ile321Thr) c.881T>C (p.Ile294Thr) | |
| 12 | g.47846752A>T | CA384516644 | VDR | c.812T>A (p.Ile271Asn) c.*814T>A (n.*814T>A) c.962T>A (p.Ile321Asn) c.881T>A (p.Ile294Asn) | |
| 12 | g.47846753T>A | CA384516649 | VDR | c.811A>T (p.Ile271Phe) c.*813A>T (n.*813A>T) c.961A>T (p.Ile321Phe) c.880A>T (p.Ile294Phe) | |
| 12 | g.47846753T>C | CA384516648 | VDR | c.811A>G (p.Ile271Val) c.*813A>G (n.*813A>G) c.961A>G (p.Ile321Val) c.880A>G (p.Ile294Val) | |
| 12 | g.47846753T>G | CA384516646 | VDR | c.811A>C (p.Ile271Leu) c.*813A>C (n.*813A>C) c.961A>C (p.Ile321Leu) c.880A>C (p.Ile294Leu) | |
| 12 | g.47846754G>A | CA479434571 | VDR | c.810C>T (p.Val270=) c.*812C>T (n.*812C>T) c.960C>T (p.Val320=) c.879C>T (p.Val293=) | |
| 12 | g.47846754G>C | CA479434572 | VDR | c.810C>G (p.Val270=) c.*812C>G (n.*812C>G) c.960C>G (p.Val320=) c.879C>G (p.Val293=) | |
| 12 | g.47846754G>T | CA479434573 | VDR | c.810C>A (p.Val270=) c.*812C>A (n.*812C>A) c.960C>A (p.Val320=) c.879C>A (p.Val293=) | |
| 12 | g.47846755A= | CA2034409842 | VDR | c.809T= (p.Val270=) c.*811T= (n.*811T=) c.959T= (p.Val320=) c.878T= (p.Val293=) | |
| 12 | g.47846755A>C | CA384516650 | VDR | c.809T>G (p.Val270Gly) c.*811T>G (n.*811T>G) c.959T>G (p.Val320Gly) c.878T>G (p.Val293Gly) | |
| 12 | g.47846755A>G | CA384516652 | VDR | c.809T>C (p.Val270Ala) c.*811T>C (n.*811T>C) c.959T>C (p.Val320Ala) c.878T>C (p.Val293Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47846755A>T | CA384516651 | VDR | c.809T>A (p.Val270Asp) c.*811T>A (n.*811T>A) c.959T>A (p.Val320Asp) c.878T>A (p.Val293Asp) | |
| 12 | g.47846756C>A | CA384516654 | VDR | c.808G>T (p.Val270Phe) c.*810G>T (n.*810G>T) c.958G>T (p.Val320Phe) c.877G>T (p.Val293Phe) | |
| 12 | g.47846756C= | CA2034409843 | VDR | c.808G= (p.Val270=) c.*810G= (n.*810G=) c.958G= (p.Val320=) c.877G= (p.Val293=) | |
| 12 | g.47846756C>G | CA384516659 | VDR | c.808G>C (p.Val270Leu) c.*810G>C (n.*810G>C) c.958G>C (p.Val320Leu) c.877G>C (p.Val293Leu) | |
| 12 | g.47846756C>T | CA384516656 | VDR | c.808G>A (p.Val270Ile) c.*810G>A (n.*810G>A) c.958G>A (p.Val320Ile) c.877G>A (p.Val293Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47846757C>A | CA384516660 | VDR | c.807G>T (p.Glu269Asp) c.*809G>T (n.*809G>T) c.957G>T (p.Glu319Asp) c.876G>T (p.Glu292Asp) | |
| 12 | g.47846757C= | CA2034409844 | VDR | c.807G= (p.Glu269=) c.*809G= (n.*809G=) c.957G= (p.Glu319=) c.876G= (p.Glu292=) | |
| 12 | g.47846757C>G | CA384516663 | VDR | c.807G>C (p.Glu269Asp) c.*809G>C (n.*809G>C) c.957G>C (p.Glu319Asp) c.876G>C (p.Glu292Asp) | |
| 12 | g.47846757C>T | CA6533849 | VDR | c.807G>A (p.Glu269=) c.*809G>A (n.*809G>A) c.957G>A (p.Glu319=) c.876G>A (p.Glu292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47846758T>A | CA384516666 | VDR | c.806A>T (p.Glu269Val) c.*808A>T (n.*808A>T) c.956A>T (p.Glu319Val) c.875A>T (p.Glu292Val) | |
| 12 | g.47846758T>C | CA236507874 | VDR | c.806A>G (p.Glu269Gly) c.*808A>G (n.*808A>G) c.956A>G (p.Glu319Gly) c.875A>G (p.Glu292Gly) | dbSNP |
| 12 | g.47846758T>G | CA384516669 | VDR | c.806A>C (p.Glu269Ala) c.*808A>C (n.*808A>C) c.956A>C (p.Glu319Ala) c.875A>C (p.Glu292Ala) | gnomAD v4 |
| 12 | g.47846758T= | CA2034409845 | VDR | c.806A= (p.Glu269=) c.*808A= (n.*808A=) c.956A= (p.Glu319=) c.875A= (p.Glu292=) | |
| 12 | g.47846759C>A | CA384516676 | VDR | c.805G>T (p.Glu269Ter) c.*807G>T (n.*807G>T) c.955G>T (p.Glu319Ter) c.874G>T (p.Glu292Ter) | |
| 12 | g.47846759C>G | CA384516681 | VDR | c.805G>C (p.Glu269Gln) c.*807G>C (n.*807G>C) c.955G>C (p.Glu319Gln) c.874G>C (p.Glu292Gln) | |
| 12 | g.47846759C>T | CA384516679 | VDR | c.805G>A (p.Glu269Lys) c.*807G>A (n.*807G>A) c.955G>A (p.Glu319Lys) c.874G>A (p.Glu292Lys) | |
| 12 | g.47846760A>C | CA384516684 | VDR | c.804T>G (p.Ile268Met) c.*806T>G (n.*806T>G) c.954T>G (p.Ile318Met) c.873T>G (p.Ile291Met) | |
| 12 | g.47846760A>G | CA479434574 | VDR | c.804T>C (p.Ile268=) c.*806T>C (n.*806T>C) c.954T>C (p.Ile318=) c.873T>C (p.Ile291=) | |
| 12 | g.47846760A>T | CA479434575 | VDR | c.804T>A (p.Ile268=) c.*806T>A (n.*806T>A) c.954T>A (p.Ile318=) c.873T>A (p.Ile291=) | gnomAD v4 |
| 12 | g.47846761A= | CA2034409846 | VDR | c.803T= (p.Ile268=) c.*805T= (n.*805T=) c.953T= (p.Ile318=) c.872T= (p.Ile291=) | |
| 12 | g.47846761A>C | CA384516693 | VDR | c.803T>G (p.Ile268Ser) c.*805T>G (n.*805T>G) c.953T>G (p.Ile318Ser) c.872T>G (p.Ile291Ser) | |
| 12 | g.47846761A>G | CA384516696 | VDR | c.803T>C (p.Ile268Thr) c.*805T>C (n.*805T>C) c.953T>C (p.Ile318Thr) c.872T>C (p.Ile291Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47846761A>T | CA384516704 | VDR | c.803T>A (p.Ile268Asn) c.*805T>A (n.*805T>A) c.953T>A (p.Ile318Asn) c.872T>A (p.Ile291Asn) | |
| 12 | g.47846762T>A | CA384516707 | VDR | c.802A>T (p.Ile268Phe) c.*804A>T (n.*804A>T) c.952A>T (p.Ile318Phe) c.871A>T (p.Ile291Phe) | gnomAD v4 |
| 12 | g.47846762T>C | CA384516709 | VDR | c.802A>G (p.Ile268Val) c.*804A>G (n.*804A>G) c.952A>G (p.Ile318Val) c.871A>G (p.Ile291Val) | |
| 12 | g.47846762T>G | CA384516711 | VDR | c.802A>C (p.Ile268Leu) c.*804A>C (n.*804A>C) c.952A>C (p.Ile318Leu) c.871A>C (p.Ile291Leu) | |
| 12 | g.47846763G>A | CA6533850 | VDR | c.801C>T (p.Ala267=) c.*803C>T (n.*803C>T) c.951C>T (p.Ala317=) c.870C>T (p.Ala290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47846763G>C | CA479434577 | VDR | c.801C>G (p.Ala267=) c.*803C>G (n.*803C>G) c.951C>G (p.Ala317=) c.870C>G (p.Ala290=) | |
| 12 | g.47846763G= | CA2034409847 | VDR | c.801C= (p.Ala267=) c.*803C= (n.*803C=) c.951C= (p.Ala317=) c.870C= (p.Ala290=) | |
| 12 | g.47846763G>T | CA479434576 | VDR | c.801C>A (p.Ala267=) c.*803C>A (n.*803C>A) c.951C>A (p.Ala317=) c.870C>A (p.Ala290=) | |
| 12 | g.47846764G>A | CA384516717 | VDR | c.800C>T (p.Ala267Val) c.*802C>T (n.*802C>T) c.950C>T (p.Ala317Val) c.869C>T (p.Ala290Val) | COSMIC COSMIC |
| 12 | g.47846764G>C | CA384516720 | VDR | c.800C>G (p.Ala267Gly) c.*802C>G (n.*802C>G) c.950C>G (p.Ala317Gly) c.869C>G (p.Ala290Gly) | |
| 12 | g.47846764G>T | CA384516723 | VDR | c.800C>A (p.Ala267Asp) c.*802C>A (n.*802C>A) c.950C>A (p.Ala317Asp) c.869C>A (p.Ala290Asp) | gnomAD v4 |
| 12 | g.47846765C>A | CA384516730 | VDR | c.799G>T (p.Ala267Ser) c.*801G>T (n.*801G>T) c.949G>T (p.Ala317Ser) c.868G>T (p.Ala290Ser) | |
| 12 | g.47846765C>G | CA384516729 | VDR | c.799G>C (p.Ala267Pro) c.*801G>C (n.*801G>C) c.949G>C (p.Ala317Pro) c.868G>C (p.Ala290Pro) | |
| 12 | g.47846765C>T | CA384516726 | VDR | c.799G>A (p.Ala267Thr) c.*801G>A (n.*801G>A) c.949G>A (p.Ala317Thr) c.868G>A (p.Ala290Thr) | |
| 12 | g.47846766A>C | CA384516734 | VDR | c.798T>G (p.Ser266Arg) c.*800T>G (n.*800T>G) c.948T>G (p.Ser316Arg) c.867T>G (p.Ser289Arg) | |
| 12 | g.47846766A>G | CA479434578 | VDR | c.798T>C (p.Ser266=) c.*800T>C (n.*800T>C) c.948T>C (p.Ser316=) c.867T>C (p.Ser289=) | |
| 12 | g.47846766A>T | CA384516736 | VDR | c.798T>A (p.Ser266Arg) c.*800T>A (n.*800T>A) c.948T>A (p.Ser316Arg) c.867T>A (p.Ser289Arg) | |
| 12 | g.47846767C>A | CA384516740 | VDR | c.797G>T (p.Ser266Ile) c.*799G>T (n.*799G>T) c.947G>T (p.Ser316Ile) c.866G>T (p.Ser289Ile) | |
| 12 | g.47846767C>G | CA384516743 | VDR | c.797G>C (p.Ser266Thr) c.*799G>C (n.*799G>C) c.947G>C (p.Ser316Thr) c.866G>C (p.Ser289Thr) | |
| 12 | g.47846767C>T | CA384516745 | VDR | c.797G>A (p.Ser266Asn) c.*799G>A (n.*799G>A) c.947G>A (p.Ser316Asn) c.866G>A (p.Ser289Asn) | |
| 12 | g.47846768T>A | CA384516748 | VDR | c.796A>T (p.Ser266Cys) c.*798A>T (n.*798A>T) c.946A>T (p.Ser316Cys) c.865A>T (p.Ser289Cys) | |
| 12 | g.47846768T>C | CA384516750 | VDR | c.796A>G (p.Ser266Gly) c.*798A>G (n.*798A>G) c.946A>G (p.Ser316Gly) c.865A>G (p.Ser289Gly) | dbSNP gnomAD v4 |
| 12 | g.47846768T>G | CA384516753 | VDR | c.796A>C (p.Ser266Arg) c.*798A>C (n.*798A>C) c.946A>C (p.Ser316Arg) c.865A>C (p.Ser289Arg) | |
| 12 | g.47846768T= | CA2034409848 | VDR | c.796A= (p.Ser266=) c.*798A= (n.*798A=) c.946A= (p.Ser316=) c.865A= (p.Ser289=) | |
| 12 | g.47846769T>A | CA479434579 | VDR | c.795A>T (p.Ser265=) c.*797A>T (n.*797A>T) c.945A>T (p.Ser315=) c.864A>T (p.Ser288=) | |
| 12 | g.47846769T>C | CA479434580 | VDR | c.795A>G (p.Ser265=) c.*797A>G (n.*797A>G) c.945A>G (p.Ser315=) c.864A>G (p.Ser288=) | |
| 12 | g.47846769T>G | CA479434581 | VDR | c.795A>C (p.Ser265=) c.*797A>C (n.*797A>C) c.945A>C (p.Ser315=) c.864A>C (p.Ser288=) | ClinVar gnomAD v4 |
| 12 | g.47846770G>A | CA384516756 | VDR | c.794C>T (p.Ser265Leu) c.*796C>T (n.*796C>T) c.944C>T (p.Ser315Leu) c.863C>T (p.Ser288Leu) | gnomAD v4 |
| 12 | g.47846770G>C | CA384516764 | VDR | c.794C>G (p.Ser265Ter) c.*796C>G (n.*796C>G) c.944C>G (p.Ser315Ter) c.863C>G (p.Ser288Ter) | |
| 12 | g.47846770G>T | CA384516766 | VDR | c.794C>A (p.Ser265Ter) c.*796C>A (n.*796C>A) c.944C>A (p.Ser315Ter) c.863C>A (p.Ser288Ter) | |
| 12 | g.47846771A= | CA2034409849 | VDR | c.793T= (p.Ser265=) c.*795T= (n.*795T=) c.943T= (p.Ser315=) c.862T= (p.Ser288=) | |
| 12 | g.47846771A>C | CA384516779 | VDR | c.793T>G (p.Ser265Ala) c.*795T>G (n.*795T>G) c.943T>G (p.Ser315Ala) c.862T>G (p.Ser288Ala) | |
| 12 | g.47846771A>G | CA384516778 | VDR | c.793T>C (p.Ser265Pro) c.*795T>C (n.*795T>C) c.943T>C (p.Ser315Pro) c.862T>C (p.Ser288Pro) | |
| 12 | g.47846771A>T | CA6533851 | VDR | c.793T>A (p.Ser265Thr) c.*795T>A (n.*795T>A) c.943T>A (p.Ser315Thr) c.862T>A (p.Ser288Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47846772C>A | CA384516782 | VDR | c.792G>T (p.Lys264Asn) c.*794G>T (n.*794G>T) c.942G>T (p.Lys314Asn) c.861G>T (p.Lys287Asn) | |
| 12 | g.47846772C>G | CA384516784 | VDR | c.792G>C (p.Lys264Asn) c.*794G>C (n.*794G>C) c.942G>C (p.Lys314Asn) c.861G>C (p.Lys287Asn) | |
| 12 | g.47846772C>T | CA479434582 | VDR | c.792G>A (p.Lys264=) c.*794G>A (n.*794G>A) c.942G>A (p.Lys314=) c.861G>A (p.Lys287=) | |
| 12 | g.47846773T>A | CA384516786 | VDR | c.791A>T (p.Lys264Met) c.*793A>T (n.*793A>T) c.941A>T (p.Lys314Met) c.860A>T (p.Lys287Met) | |
| 12 | g.47846773T>C | CA384516789 | VDR | c.791A>G (p.Lys264Arg) c.*793A>G (n.*793A>G) c.941A>G (p.Lys314Arg) c.860A>G (p.Lys287Arg) | |
| 12 | g.47846773T>G | CA384516790 | VDR | c.791A>C (p.Lys264Thr) c.*793A>C (n.*793A>C) c.941A>C (p.Lys314Thr) c.860A>C (p.Lys287Thr) | |
| 12 | g.47846774T>A | CA384516795 | VDR | c.790A>T (p.Lys264Ter) c.*792A>T (n.*792A>T) c.940A>T (p.Lys314Ter) c.859A>T (p.Lys287Ter) | |
| 12 | g.47846774T>C | CA384516799 | VDR | c.790A>G (p.Lys264Glu) c.*792A>G (n.*792A>G) c.940A>G (p.Lys314Glu) c.859A>G (p.Lys287Glu) | |
| 12 | g.47846774T>G | CA384516803 | VDR | c.790A>C (p.Lys264Gln) c.*792A>C (n.*792A>C) c.940A>C (p.Lys314Gln) c.859A>C (p.Lys287Gln) | |
| 12 | g.47846775C>A | CA479434583 | VDR | c.789G>T (p.Leu263=) c.*791G>T (n.*791G>T) c.939G>T (p.Leu313=) c.858G>T (p.Leu286=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47846775C= | CA2034409850 | VDR | c.789G= (p.Leu263=) c.*791G= (n.*791G=) c.939G= (p.Leu313=) c.858G= (p.Leu286=) | |
| 12 | g.47846775C>G | CA479434584 | VDR | c.789G>C (p.Leu263=) c.*791G>C (n.*791G>C) c.939G>C (p.Leu313=) c.858G>C (p.Leu286=) | |
| 12 | g.47846775C>T | CA479434585 | VDR | c.789G>A (p.Leu263=) c.*791G>A (n.*791G>A) c.939G>A (p.Leu313=) c.858G>A (p.Leu286=) | |
| 12 | g.47846776A>C | CA384516805 | VDR | c.788T>G (p.Leu263Arg) c.*790T>G (n.*790T>G) c.938T>G (p.Leu313Arg) c.857T>G (p.Leu286Arg) | |
| 12 | g.47846776A>G | CA384516806 | VDR | c.788T>C (p.Leu263Pro) c.*790T>C (n.*790T>C) c.938T>C (p.Leu313Pro) c.857T>C (p.Leu286Pro) | |
| 12 | g.47846776A>T | CA384516808 | VDR | c.788T>A (p.Leu263Gln) c.*790T>A (n.*790T>A) c.938T>A (p.Leu313Gln) c.857T>A (p.Leu286Gln) | |
| 12 | g.47846777G>A | CA479434586 | VDR | c.787C>T (p.Leu263=) c.*789C>T (n.*789C>T) c.937C>T (p.Leu313=) c.856C>T (p.Leu286=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47846777G>C | CA384516810 | VDR | c.787C>G (p.Leu263Val) c.*789C>G (n.*789C>G) c.937C>G (p.Leu313Val) c.856C>G (p.Leu286Val) | |
| 12 | g.47846777G= | CA2034409851 | VDR | c.787C= (p.Leu263=) c.*789C= (n.*789C=) c.937C= (p.Leu313=) c.856C= (p.Leu286=) | |
| 12 | g.47846777G>T | CA384516813 | VDR | c.787C>A (p.Leu263Met) c.*789C>A (n.*789C>A) c.937C>A (p.Leu313Met) c.856C>A (p.Leu286Met) | |
| 12 | g.47846778C>A | CA479434587 | VDR | c.786G>T (p.Leu262=) c.*788G>T (n.*788G>T) c.936G>T (p.Leu312=) c.855G>T (p.Leu285=) | |
| 12 | g.47846778C>G | CA479434588 | VDR | c.786G>C (p.Leu262=) c.*788G>C (n.*788G>C) c.936G>C (p.Leu312=) c.855G>C (p.Leu285=) | |
| 12 | g.47846778C>T | CA479434589 | VDR | c.786G>A (p.Leu262=) c.*788G>A (n.*788G>A) c.936G>A (p.Leu312=) c.855G>A (p.Leu285=) | |
| 12 | g.47846779A>C | CA384516814 | VDR | c.785T>G (p.Leu262Arg) c.*787T>G (n.*787T>G) c.935T>G (p.Leu312Arg) c.854T>G (p.Leu285Arg) | |
| 12 | g.47846779A>G | CA384516823 | VDR | c.785T>C (p.Leu262Pro) c.*787T>C (n.*787T>C) c.935T>C (p.Leu312Pro) c.854T>C (p.Leu285Pro) | |
| 12 | g.47846779A>T | CA384516820 | VDR | c.785T>A (p.Leu262Gln) c.*787T>A (n.*787T>A) c.935T>A (p.Leu312Gln) c.854T>A (p.Leu285Gln) |