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 |
|---|---|---|---|---|---|
| 20 | g.54169568_54169579delinsAGCAAGTCTGTG | CA2370270004 | CYP24A1 | c.640+13_640+24delinsCACAGACTTGCT (n.640+13_640+24delinsCACAGACTTGCT) c.214+13_214+24delinsCACAGACTTGCT (n.214+13_214+24delinsCACAGACTTGCT) | |
| 20 | g.54169569_54169579del | CA2370270005 | CYP24A1 | c.640+13_640+23del (n.640+13_640+23del) c.214+13_214+23del (n.214+13_214+23del) | dbSNP |
| 20 | g.54169573G>C | CA2737087404 | CYP24A1 | c.640+19C>G (n.640+19C>G) c.214+19C>G (n.214+19C>G) | dbSNP |
| 20 | g.54169573G>T | CA2737087418 | CYP24A1 | c.640+19C>A (n.640+19C>A) c.214+19C>A (n.214+19C>A) | dbSNP |
| 20 | g.54169574_54169582del | CA2653391153 | CYP24A1 | c.640+11_640+19del (n.640+11_640+19del) c.214+11_214+19del (n.214+11_214+19del) | gnomAD v4 |
| 20 | g.54169573_54169583delinsGTCTGTGACGA | CA2370270008 | CYP24A1 | c.640+9_640+19delinsTCGTCACAGAC (n.640+9_640+19delinsTCGTCACAGAC) c.214+9_214+19delinsTCGTCACAGAC (n.214+9_214+19delinsTCGTCACAGAC) | |
| 20 | g.54169574T>A | CA2737087431 | CYP24A1 | c.640+18A>T (n.640+18A>T) c.214+18A>T (n.214+18A>T) | dbSNP |
| 20 | g.54169574_54169583del | CA9916065 | CYP24A1 | c.640+9_640+18del (n.640+9_640+18del) c.214+9_214+18del (n.214+9_214+18del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54169575C>G | CA2737087433 | CYP24A1 | c.640+17G>C (n.640+17G>C) c.214+17G>C (n.214+17G>C) | dbSNP |
| 20 | g.54169575C>T | CA2737087435 | CYP24A1 | c.640+17G>A (n.640+17G>A) c.214+17G>A (n.214+17G>A) | dbSNP |
| 20 | g.54169575_54169577delinsCTG | CA2370270009 | CYP24A1 | c.640+15_640+17delinsCAG (n.640+15_640+17delinsCAG) c.214+15_214+17delinsCAG (n.214+15_214+17delinsCAG) | |
| 20 | g.54169578_54169579del | CA635819809 | CYP24A1 | c.640+15_640+16del (n.640+15_640+16del) c.214+15_214+16del (n.214+15_214+16del) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54169577G>C | CA9916066 | CYP24A1 | c.640+15C>G (n.640+15C>G) c.214+15C>G (n.214+15C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169577G= | CA2370270010 | CYP24A1 | c.640+15C= (n.640+15C=) c.214+15C= (n.214+15C=) | |
| 20 | g.54169578T>A | CA2736892385 | CYP24A1 | c.640+14A>T (n.640+14A>T) c.214+14A>T (n.214+14A>T) | dbSNP |
| 20 | g.54169578T>C | CA2370270013 | CYP24A1 | c.640+14A>G (n.640+14A>G) c.214+14A>G (n.214+14A>G) | dbSNP gnomAD v4 |
| 20 | g.54169578T= | CA2370270012 | CYP24A1 | c.640+14A= (n.640+14A=) c.214+14A= (n.214+14A=) | |
| 20 | g.54169578_54169581delinsTGAC | CA2370270011 | CYP24A1 | c.640+11_640+14delinsGTCA (n.640+11_640+14delinsGTCA) c.214+11_214+14delinsGTCA (n.214+11_214+14delinsGTCA) | |
| 20 | g.54169579G>C | CA2737087453 | CYP24A1 | c.640+13C>G (n.640+13C>G) c.214+13C>G (n.214+13C>G) | dbSNP |
| 20 | g.54169582_54169584del | CA745621990 | CYP24A1 | c.640+11_640+13del (n.640+11_640+13del) c.214+11_214+13del (n.214+11_214+13del) | dbSNP gnomAD v4 |
| 20 | g.54169580A>T | CA2737087687 | CYP24A1 | c.640+12T>A (n.640+12T>A) c.214+12T>A (n.214+12T>A) | dbSNP |
| 20 | g.54169581C>A | CA2370270015 | CYP24A1 | c.640+11G>T (n.640+11G>T) c.214+11G>T (n.214+11G>T) | dbSNP |
| 20 | g.54169581C= | CA2370270014 | CYP24A1 | c.640+11G= (n.640+11G=) c.214+11G= (n.214+11G=) | |
| 20 | g.54169581C>G | CA2736827289 | CYP24A1 | c.640+11G>C (n.640+11G>C) c.214+11G>C (n.214+11G>C) | dbSNP |
| 20 | g.54169581C>T | CA9916067 | CYP24A1 | c.640+11G>A (n.640+11G>A) c.214+11G>A (n.214+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169582G>A | CA9916068 | CYP24A1 | c.640+10C>T (n.640+10C>T) c.214+10C>T (n.214+10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54169582G>C | CA2736827634 | CYP24A1 | c.640+10C>G (n.640+10C>G) c.214+10C>G (n.214+10C>G) | dbSNP |
| 20 | g.54169582G= | CA2370270016 | CYP24A1 | c.640+10C= (n.640+10C=) c.214+10C= (n.214+10C=) | |
| 20 | g.54169582G>T | CA2653391154 | CYP24A1 | c.640+10C>A (n.640+10C>A) c.214+10C>A (n.214+10C>A) | gnomAD v4 |
| 20 | g.54169583A>C | CA2737087688 | CYP24A1 | c.640+9T>G (n.640+9T>G) c.214+9T>G (n.214+9T>G) | dbSNP |
| 20 | g.54169583A>T | CA2737087690 | CYP24A1 | c.640+9T>A (n.640+9T>A) c.214+9T>A (n.214+9T>A) | dbSNP |
| 20 | g.54169584C>G | CA2737087916 | CYP24A1 | c.640+8G>C (n.640+8G>C) c.214+8G>C (n.214+8G>C) | dbSNP |
| 20 | g.54169584C>T | CA2737087935 | CYP24A1 | c.640+8G>A (n.640+8G>A) c.214+8G>A (n.214+8G>A) | dbSNP |
| 20 | g.54169585A>G | CA2737087939 | CYP24A1 | c.640+7T>C (n.640+7T>C) c.214+7T>C (n.214+7T>C) | dbSNP |
| 20 | g.54169586A>G | CA2653391155 | CYP24A1 | c.640+6T>C (n.640+6T>C) c.214+6T>C (n.214+6T>C) | gnomAD v4 |
| 20 | g.54169586A>T | CA2737088131 | CYP24A1 | c.640+6T>A (n.640+6T>A) c.214+6T>A (n.214+6T>A) | dbSNP |
| 20 | g.54169587C>A | CA2736841902 | CYP24A1 | c.640+5G>T (n.640+5G>T) c.214+5G>T (n.214+5G>T) | dbSNP |
| 20 | g.54169587C= | CA2370270017 | CYP24A1 | c.640+5G= (n.640+5G=) c.214+5G= (n.214+5G=) | |
| 20 | g.54169587C>G | CA2736841900 | CYP24A1 | c.640+5G>C (n.640+5G>C) c.214+5G>C (n.214+5G>C) | dbSNP |
| 20 | g.54169587C>T | CA745621998 | CYP24A1 | c.640+5G>A (n.640+5G>A) c.214+5G>A (n.214+5G>A) | dbSNP gnomAD v4 |
| 20 | g.54169588T>A | CA2653391156 | CYP24A1 | c.640+4A>T (n.640+4A>T) c.214+4A>T (n.214+4A>T) | gnomAD v4 |
| 20 | g.54169588T>G | CA316158628 | CYP24A1 | c.640+4A>C (n.640+4A>C) c.214+4A>C (n.214+4A>C) | dbSNP gnomAD v4 |
| 20 | g.54169588T= | CA2370270018 | CYP24A1 | c.640+4A= (n.640+4A=) c.214+4A= (n.214+4A=) | |
| 20 | g.54169590A= | CA2370270019 | CYP24A1 | c.640+2T= (n.640+2T=) c.214+2T= (n.214+2T=) | |
| 20 | g.54169590A>C | CA409392324 | CYP24A1 | c.640+2T>G (n.640+2T>G) c.214+2T>G (n.214+2T>G) | |
| 20 | g.54169590A>G | CA409392325 | CYP24A1 | c.640+2T>C (n.640+2T>C) c.214+2T>C (n.214+2T>C) | dbSNP |
| 20 | g.54169590A>T | CA409392326 | CYP24A1 | c.640+2T>A (n.640+2T>A) c.214+2T>A (n.214+2T>A) | dbSNP |
| 20 | g.54169591C>A | CA409392327 | CYP24A1 | c.640+1G>T (n.640+1G>T) c.214+1G>T (n.214+1G>T) | |
| 20 | g.54169591C= | CA2370270020 | CYP24A1 | c.640+1G= (n.640+1G=) c.214+1G= (n.214+1G=) | |
| 20 | g.54169591C>G | CA409392328 | CYP24A1 | c.640+1G>C (n.640+1G>C) c.214+1G>C (n.214+1G>C) | |
| 20 | g.54169591C>T | CA316158631 | CYP24A1 | c.640+1G>A (n.640+1G>A) c.214+1G>A (n.214+1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169592T>A | CA409392329 | CYP24A1 | c.640A>T (p.Ser214Cys) c.214A>T (p.Ser72Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54169592T>C | CA409392330 | CYP24A1 | c.640A>G (p.Ser214Gly) c.214A>G (p.Ser72Gly) | |
| 20 | g.54169592T>G | CA409392331 | CYP24A1 | c.640A>C (p.Ser214Arg) c.214A>C (p.Ser72Arg) | |
| 20 | g.54169592T= | CA2370270021 | CYP24A1 | c.640A= (p.Ser214=) c.214A= (p.Ser72=) | |
| 20 | g.54169593T>A | CA409392332 | CYP24A1 | c.639A>T (p.Glu213Asp) c.213A>T (p.Glu71Asp) | |
| 20 | g.54169593T>C | CA510910430 | CYP24A1 | c.639A>G (p.Glu213=) c.213A>G (p.Glu71=) | |
| 20 | g.54169593T>G | CA409392333 | CYP24A1 | c.639A>C (p.Glu213Asp) c.213A>C (p.Glu71Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169593T= | CA2370270022 | CYP24A1 | c.639A= (p.Glu213=) c.213A= (p.Glu71=) | |
| 20 | g.54169594T>A | CA409392336 | CYP24A1 | c.638A>T (p.Glu213Val) c.212A>T (p.Glu71Val) | |
| 20 | g.54169594T>C | CA409392334 | CYP24A1 | c.638A>G (p.Glu213Gly) c.212A>G (p.Glu71Gly) | dbSNP |
| 20 | g.54169594T>G | CA409392335 | CYP24A1 | c.638A>C (p.Glu213Ala) c.212A>C (p.Glu71Ala) | |
| 20 | g.54169595C>A | CA409392337 | CYP24A1 | c.637G>T (p.Glu213Ter) c.211G>T (p.Glu71Ter) | |
| 20 | g.54169595C>G | CA409392338 | CYP24A1 | c.637G>C (p.Glu213Gln) c.211G>C (p.Glu71Gln) | |
| 20 | g.54169595C>T | CA409392339 | CYP24A1 | c.637G>A (p.Glu213Lys) c.211G>A (p.Glu71Lys) | dbSNP |
| 20 | g.54169596A>C | CA409392340 | CYP24A1 | c.636T>G (p.Phe212Leu) c.210T>G (p.Phe70Leu) | |
| 20 | g.54169596A>G | CA510910431 | CYP24A1 | c.636T>C (p.Phe212=) c.210T>C (p.Phe70=) | |
| 20 | g.54169596A>T | CA409392341 | CYP24A1 | c.636T>A (p.Phe212Leu) c.210T>A (p.Phe70Leu) | |
| 20 | g.54169597A>C | CA409392342 | CYP24A1 | c.635T>G (p.Phe212Cys) c.209T>G (p.Phe70Cys) | dbSNP COSMIC |
| 20 | g.54169597A>G | CA409392343 | CYP24A1 | c.635T>C (p.Phe212Ser) c.209T>C (p.Phe70Ser) | gnomAD v4 |
| 20 | g.54169597A>T | CA409392344 | CYP24A1 | c.635T>A (p.Phe212Tyr) c.209T>A (p.Phe70Tyr) | dbSNP |
| 20 | g.54169598A= | CA2370270023 | CYP24A1 | c.634T= (p.Phe212=) c.208T= (p.Phe70=) | |
| 20 | g.54169598A>C | CA409392345 | CYP24A1 | c.634T>G (p.Phe212Val) c.208T>G (p.Phe70Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169598A>G | CA409392346 | CYP24A1 | c.634T>C (p.Phe212Leu) c.208T>C (p.Phe70Leu) | |
| 20 | g.54169598A>T | CA409392347 | CYP24A1 | c.634T>A (p.Phe212Ile) c.208T>A (p.Phe70Ile) | dbSNP |
| 20 | g.54169599C>A | CA510910432 | CYP24A1 | c.633G>T (p.Ser211=) c.207G>T (p.Ser69=) | |
| 20 | g.54169599C= | CA2370270024 | CYP24A1 | c.633G= (p.Ser211=) c.207G= (p.Ser69=) | |
| 20 | g.54169599C>G | CA9916069 | CYP24A1 | c.633G>C (p.Ser211=) c.207G>C (p.Ser69=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169599C>T | CA9916070 | CYP24A1 | c.633G>A (p.Ser211=) c.207G>A (p.Ser69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169600G>A | CA409392348 | CYP24A1 | c.632C>T (p.Ser211Leu) c.206C>T (p.Ser69Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54169600G>C | CA409392349 | CYP24A1 | c.632C>G (p.Ser211Trp) c.206C>G (p.Ser69Trp) | dbSNP gnomAD v4 |
| 20 | g.54169600G= | CA2370270025 | CYP24A1 | c.632C= (p.Ser211=) c.206C= (p.Ser69=) | |
| 20 | g.54169600G>T | CA409392350 | CYP24A1 | c.632C>A (p.Ser211Ter) c.206C>A (p.Ser69Ter) | dbSNP gnomAD v4 |
| 20 | g.54169601A= | CA2370270026 | CYP24A1 | c.631T= (p.Ser211=) c.205T= (p.Ser69=) | |
| 20 | g.54169601A>C | CA409392351 | CYP24A1 | c.631T>G (p.Ser211Ala) c.205T>G (p.Ser69Ala) | |
| 20 | g.54169601A>G | CA409392352 | CYP24A1 | c.631T>C (p.Ser211Pro) c.205T>C (p.Ser69Pro) | dbSNP gnomAD v4 |
| 20 | g.54169601A>T | CA409392353 | CYP24A1 | c.631T>A (p.Ser211Thr) c.205T>A (p.Ser69Thr) | gnomAD v4 |
| 20 | g.54169602C>A | CA409392354 | CYP24A1 | c.630G>T (p.Trp210Cys) c.204G>T (p.Trp68Cys) | |
| 20 | g.54169602C= | CA2370270027 | CYP24A1 | c.630G= (p.Trp210=) c.204G= (p.Trp68=) | |
| 20 | g.54169602C>G | CA409392355 | CYP24A1 | c.630G>C (p.Trp210Cys) c.204G>C (p.Trp68Cys) | dbSNP gnomAD v4 |
| 20 | g.54169602C>T | CA409392356 | CYP24A1 | c.630G>A (p.Trp210Ter) c.204G>A (p.Trp68Ter) | dbSNP gnomAD v4 |
| 20 | g.54169603C>A | CA409392357 | CYP24A1 | c.629G>T (p.Trp210Leu) c.203G>T (p.Trp68Leu) | |
| 20 | g.54169603C>G | CA409392358 | CYP24A1 | c.629G>C (p.Trp210Ser) c.203G>C (p.Trp68Ser) | dbSNP gnomAD v4 |
| 20 | g.54169603C>T | CA409392359 | CYP24A1 | c.629G>A (p.Trp210Ter) c.203G>A (p.Trp68Ter) | dbSNP |
| 20 | g.54169604A>C | CA409392362 | CYP24A1 | c.628T>G (p.Trp210Gly) c.202T>G (p.Trp68Gly) | |
| 20 | g.54169604A>G | CA409392361 | CYP24A1 | c.628T>C (p.Trp210Arg) c.202T>C (p.Trp68Arg) | gnomAD v4 |
| 20 | g.54169604A>T | CA409392360 | CYP24A1 | c.628T>A (p.Trp210Arg) c.202T>A (p.Trp68Arg) | gnomAD v4 |
| 20 | g.54169605T>A | CA409392363 | CYP24A1 | c.627A>T (p.Lys209Asn) c.201A>T (p.Lys67Asn) | |
| 20 | g.54169605T>C | CA510910434 | CYP24A1 | c.627A>G (p.Lys209=) c.201A>G (p.Lys67=) | |
| 20 | g.54169605T>G | CA409392364 | CYP24A1 | c.627A>C (p.Lys209Asn) c.201A>C (p.Lys67Asn) | |
| 20 | g.54169607dup | CA2737088727 | CYP24A1 | c.627dup (p.Trp210MetfsTer4) c.201dup (p.Trp68MetfsTer4) | dbSNP |
| 20 | g.54169606T>A | CA409392365 | CYP24A1 | c.626A>T (p.Lys209Ile) c.200A>T (p.Lys67Ile) | |
| 20 | g.54169606T>C | CA9916071 | CYP24A1 | c.626A>G (p.Lys209Arg) c.200A>G (p.Lys67Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169606T>G | CA409392366 | CYP24A1 | c.626A>C (p.Lys209Thr) c.200A>C (p.Lys67Thr) | |
| 20 | g.54169606T= | CA2370270028 | CYP24A1 | c.626A= (p.Lys209=) c.200A= (p.Lys67=) | |
| 20 | g.54169607T>A | CA409392367 | CYP24A1 | c.625A>T (p.Lys209Ter) c.199A>T (p.Lys67Ter) | |
| 20 | g.54169607T>C | CA409392368 | CYP24A1 | c.625A>G (p.Lys209Glu) c.199A>G (p.Lys67Glu) | ClinVar |
| 20 | g.54169607T>G | CA409392369 | CYP24A1 | c.625A>C (p.Lys209Gln) c.199A>C (p.Lys67Gln) | |
| 20 | g.54169608G>A | CA510910435 | CYP24A1 | c.624C>T (p.Asn208=) c.198C>T (p.Asn66=) | dbSNP |
| 20 | g.54169608G>C | CA409392370 | CYP24A1 | c.624C>G (p.Asn208Lys) c.198C>G (p.Asn66Lys) | dbSNP |
| 20 | g.54169608G= | CA2370270029 | CYP24A1 | c.624C= (p.Asn208=) c.198C= (p.Asn66=) | |
| 20 | g.54169608G>T | CA409392371 | CYP24A1 | c.624C>A (p.Asn208Lys) c.198C>A (p.Asn66Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169609T>A | CA409392372 | CYP24A1 | c.623A>T (p.Asn208Ile) c.197A>T (p.Asn66Ile) | dbSNP |
| 20 | g.54169609T>C | CA409392373 | CYP24A1 | c.623A>G (p.Asn208Ser) c.197A>G (p.Asn66Ser) | |
| 20 | g.54169609T>G | CA409392374 | CYP24A1 | c.623A>C (p.Asn208Thr) c.197A>C (p.Asn66Thr) | |
| 20 | g.54169610T>A | CA409392376 | CYP24A1 | c.622A>T (p.Asn208Tyr) c.196A>T (p.Asn66Tyr) | dbSNP |
| 20 | g.54169610T>C | CA409392377 | CYP24A1 | c.622A>G (p.Asn208Asp) c.196A>G (p.Asn66Asp) | |
| 20 | g.54169610T>G | CA409392375 | CYP24A1 | c.622A>C (p.Asn208His) c.196A>C (p.Asn66His) | |
| 20 | g.54169611C>A | CA510910439 | CYP24A1 | c.621G>T (p.Leu207=) c.195G>T (p.Leu65=) | |
| 20 | g.54169611C= | CA2370270030 | CYP24A1 | c.621G= (p.Leu207=) c.195G= (p.Leu65=) | |
| 20 | g.54169611C>G | CA510910438 | CYP24A1 | c.621G>C (p.Leu207=) c.195G>C (p.Leu65=) | dbSNP |
| 20 | g.54169611C>T | CA510910436 | CYP24A1 | c.621G>A (p.Leu207=) c.195G>A (p.Leu65=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54169612A= | CA2370270031 | CYP24A1 | c.620T= (p.Leu207=) c.194T= (p.Leu65=) | |
| 20 | g.54169612A>C | CA409392380 | CYP24A1 | c.620T>G (p.Leu207Arg) c.194T>G (p.Leu65Arg) | dbSNP |
| 20 | g.54169612A>G | CA409392378 | CYP24A1 | c.620T>C (p.Leu207Pro) c.194T>C (p.Leu65Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54169612A>T | CA409392379 | CYP24A1 | c.620T>A (p.Leu207Gln) c.194T>A (p.Leu65Gln) | dbSNP |
| 20 | g.54169613G>A | CA510910442 | CYP24A1 | c.619C>T (p.Leu207=) c.193C>T (p.Leu65=) | dbSNP |
| 20 | g.54169613G>C | CA9916072 | CYP24A1 | c.619C>G (p.Leu207Val) c.193C>G (p.Leu65Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169613G= | CA2370270032 | CYP24A1 | c.619C= (p.Leu207=) c.193C= (p.Leu65=) | |
| 20 | g.54169613G>T | CA9916073 | CYP24A1 | c.619C>A (p.Leu207Met) c.193C>A (p.Leu65Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169614T>A | CA409392381 | CYP24A1 | c.618A>T (p.Glu206Asp) c.192A>T (p.Glu64Asp) | dbSNP |
| 20 | g.54169614T>C | CA510910443 | CYP24A1 | c.618A>G (p.Glu206=) c.192A>G (p.Glu64=) | |
| 20 | g.54169614T>G | CA409392382 | CYP24A1 | c.618A>C (p.Glu206Asp) c.192A>C (p.Glu64Asp) | |
| 20 | g.54169615T>A | CA409392383 | CYP24A1 | c.617A>T (p.Glu206Val) c.191A>T (p.Glu64Val) | |
| 20 | g.54169615T>C | CA409392384 | CYP24A1 | c.617A>G (p.Glu206Gly) c.191A>G (p.Glu64Gly) | |
| 20 | g.54169615T>G | CA409392385 | CYP24A1 | c.617A>C (p.Glu206Ala) c.191A>C (p.Glu64Ala) | |
| 20 | g.54169616C>A | CA409392386 | CYP24A1 | c.616G>T (p.Glu206Ter) c.190G>T (p.Glu64Ter) | dbSNP gnomAD v4 COSMIC |
| 20 | g.54169616C= | CA2370270033 | CYP24A1 | c.616G= (p.Glu206=) c.190G= (p.Glu64=) | |
| 20 | g.54169616C>G | CA409392387 | CYP24A1 | c.616G>C (p.Glu206Gln) c.190G>C (p.Glu64Gln) | dbSNP |
| 20 | g.54169616C>T | CA9916074 | CYP24A1 | c.616G>A (p.Glu206Lys) c.190G>A (p.Glu64Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169617G>A | CA9916075 | CYP24A1 | c.615C>T (p.Ser205=) c.189C>T (p.Ser63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.54169617G>C | CA409392389 | CYP24A1 | c.615C>G (p.Ser205Arg) c.189C>G (p.Ser63Arg) | dbSNP |
| 20 | g.54169617G= | CA2370270034 | CYP24A1 | c.615C= (p.Ser205=) c.189C= (p.Ser63=) | |
| 20 | g.54169617G>T | CA409392388 | CYP24A1 | c.615C>A (p.Ser205Arg) c.189C>A (p.Ser63Arg) | dbSNP gnomAD v4 |
| 20 | g.54169618C>A | CA409392390 | CYP24A1 | c.614G>T (p.Ser205Ile) c.188G>T (p.Ser63Ile) | |
| 20 | g.54169618C>G | CA409392391 | CYP24A1 | c.614G>C (p.Ser205Thr) c.188G>C (p.Ser63Thr) | dbSNP |
| 20 | g.54169618C>T | CA409392392 | CYP24A1 | c.614G>A (p.Ser205Asn) c.188G>A (p.Ser63Asn) | dbSNP gnomAD v4 |
| 20 | g.54169619T>A | CA409392393 | CYP24A1 | c.613A>T (p.Ser205Cys) c.187A>T (p.Ser63Cys) | dbSNP gnomAD v4 |
| 20 | g.54169619T>C | CA9916076 | CYP24A1 | c.613A>G (p.Ser205Gly) c.187A>G (p.Ser63Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169619T>G | CA409392394 | CYP24A1 | c.613A>C (p.Ser205Arg) c.187A>C (p.Ser63Arg) | dbSNP |
| 20 | g.54169619T= | CA2370270035 | CYP24A1 | c.613A= (p.Ser205=) c.187A= (p.Ser63=) | |
| 20 | g.54169620G>A | CA510910444 | CYP24A1 | c.612C>T (p.Tyr204=) c.186C>T (p.Tyr62=) | dbSNP |
| 20 | g.54169620G>C | CA409392395 | CYP24A1 | c.612C>G (p.Tyr204Ter) c.186C>G (p.Tyr62Ter) | dbSNP |
| 20 | g.54169620G>T | CA409392396 | CYP24A1 | c.612C>A (p.Tyr204Ter) c.186C>A (p.Tyr62Ter) | |
| 20 | g.54169621T>A | CA409392397 | CYP24A1 | c.611A>T (p.Tyr204Phe) c.185A>T (p.Tyr62Phe) | dbSNP gnomAD v4 |
| 20 | g.54169621T>C | CA409392398 | CYP24A1 | c.611A>G (p.Tyr204Cys) c.185A>G (p.Tyr62Cys) | dbSNP gnomAD v4 |
| 20 | g.54169621T>G | CA409392399 | CYP24A1 | c.611A>C (p.Tyr204Ser) c.185A>C (p.Tyr62Ser) | |
| 20 | g.54169622A= | CA2370270036 | CYP24A1 | c.610T= (p.Tyr204=) c.184T= (p.Tyr62=) | |
| 20 | g.54169622A>C | CA409392400 | CYP24A1 | c.610T>G (p.Tyr204Asp) c.184T>G (p.Tyr62Asp) | dbSNP |
| 20 | g.54169622A>G | CA316158648 | CYP24A1 | c.610T>C (p.Tyr204His) c.184T>C (p.Tyr62His) | dbSNP gnomAD v4 |
| 20 | g.54169622A>T | CA9916077 | CYP24A1 | c.610T>A (p.Tyr204Asn) c.184T>A (p.Tyr62Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54169623C>A | CA409392401 | CYP24A1 | c.609G>T (p.Leu203Phe) c.183G>T (p.Leu61Phe) | |
| 20 | g.54169623C= | CA2370270037 | CYP24A1 | c.609G= (p.Leu203=) c.183G= (p.Leu61=) | |
| 20 | g.54169623C>G | CA409392402 | CYP24A1 | c.609G>C (p.Leu203Phe) c.183G>C (p.Leu61Phe) | dbSNP |
| 20 | g.54169623C>T | CA510910445 | CYP24A1 | c.609G>A (p.Leu203=) c.183G>A (p.Leu61=) | dbSNP gnomAD v4 |
| 20 | g.54169624A= | CA2370270038 | CYP24A1 | c.608T= (p.Leu203=) c.182T= (p.Leu61=) | |
| 20 | g.54169624A>C | CA409392403 | CYP24A1 | c.608T>G (p.Leu203Trp) c.182T>G (p.Leu61Trp) | |
| 20 | g.54169624A>G | CA409392404 | CYP24A1 | c.608T>C (p.Leu203Ser) c.182T>C (p.Leu61Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54169624A>T | CA409392405 | CYP24A1 | c.608T>A (p.Leu203Ter) c.182T>A (p.Leu61Ter) | dbSNP |
| 20 | g.54169625A= | CA2370270039 | CYP24A1 | c.607T= (p.Leu203=) c.181T= (p.Leu61=) | |
| 20 | g.54169625A>C | CA409392406 | CYP24A1 | c.607T>G (p.Leu203Val) c.181T>G (p.Leu61Val) | |
| 20 | g.54169625A>G | CA9916078 | CYP24A1 | c.607T>C (p.Leu203=) c.181T>C (p.Leu61=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.54169625A>T | CA409392407 | CYP24A1 | c.607T>A (p.Leu203Met) c.181T>A (p.Leu61Met) | dbSNP |
| 20 | g.54169626G>A | CA510910446 | CYP24A1 | c.606C>T (p.Asp202=) c.180C>T (p.Asp60=) | dbSNP |
| 20 | g.54169626G>C | CA409392408 | CYP24A1 | c.606C>G (p.Asp202Glu) c.180C>G (p.Asp60Glu) | dbSNP |
| 20 | g.54169626G= | CA2370270040 | CYP24A1 | c.606C= (p.Asp202=) c.180C= (p.Asp60=) | |
| 20 | g.54169626G>T | CA409392409 | CYP24A1 | c.606C>A (p.Asp202Glu) c.180C>A (p.Asp60Glu) | |
| 20 | g.54169627T>A | CA409392410 | CYP24A1 | c.605A>T (p.Asp202Val) c.179A>T (p.Asp60Val) | dbSNP |
| 20 | g.54169627T>C | CA409392411 | CYP24A1 | c.605A>G (p.Asp202Gly) c.179A>G (p.Asp60Gly) | |
| 20 | g.54169627T>G | CA409392412 | CYP24A1 | c.605A>C (p.Asp202Ala) c.179A>C (p.Asp60Ala) | |
| 20 | g.54169627_54169634dup | CA745622089 | CYP24A1 | c.598_605dup (p.Asp202GlufsTer9) c.172_179dup (p.Asp60GlufsTer9) | dbSNP |
| 20 | g.54169628C>A | CA409392413 | CYP24A1 | c.604G>T (p.Asp202Tyr) c.178G>T (p.Asp60Tyr) | |
| 20 | g.54169628C= | CA2370270041 | CYP24A1 | c.604G= (p.Asp202=) c.178G= (p.Asp60=) | |
| 20 | g.54169628C>G | CA9916079 | CYP24A1 | c.604G>C (p.Asp202His) c.178G>C (p.Asp60His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169628C>T | CA409392414 | CYP24A1 | c.604G>A (p.Asp202Asn) c.178G>A (p.Asp60Asn) | dbSNP |
| 20 | g.54169629T>A | CA409392415 | CYP24A1 | c.603A>T (p.Glu201Asp) c.177A>T (p.Glu59Asp) | |
| 20 | g.54169629T>C | CA510910447 | CYP24A1 | c.603A>G (p.Glu201=) c.177A>G (p.Glu59=) | |
| 20 | g.54169629T>G | CA409392416 | CYP24A1 | c.603A>C (p.Glu201Asp) c.177A>C (p.Glu59Asp) | |
| 20 | g.54169630T>A | CA409392417 | CYP24A1 | c.602A>T (p.Glu201Val) c.176A>T (p.Glu59Val) | |
| 20 | g.54169630T>C | CA409392418 | CYP24A1 | c.602A>G (p.Glu201Gly) c.176A>G (p.Glu59Gly) | dbSNP |
| 20 | g.54169630T>G | CA409392419 | CYP24A1 | c.602A>C (p.Glu201Ala) c.176A>C (p.Glu59Ala) | |
| 20 | g.54169631C>A | CA409392420 | CYP24A1 | c.601G>T (p.Glu201Ter) c.175G>T (p.Glu59Ter) | dbSNP |
| 20 | g.54169631C>G | CA409392421 | CYP24A1 | c.601G>C (p.Glu201Gln) c.175G>C (p.Glu59Gln) | dbSNP |
| 20 | g.54169631C>T | CA409392422 | CYP24A1 | c.601G>A (p.Glu201Lys) c.175G>A (p.Glu59Lys) | dbSNP |
| 20 | g.54169632A>C | CA510910448 | CYP24A1 | c.600T>G (p.Val200=) c.174T>G (p.Val58=) | |
| 20 | g.54169632A>G | CA510910450 | CYP24A1 | c.600T>C (p.Val200=) c.174T>C (p.Val58=) | dbSNP |
| 20 | g.54169632A>T | CA510910449 | CYP24A1 | c.600T>A (p.Val200=) c.174T>A (p.Val58=) | dbSNP |
| 20 | g.54169633A= | CA2370270042 | CYP24A1 | c.599T= (p.Val200=) c.173T= (p.Val58=) | |
| 20 | g.54169633A>C | CA409392423 | CYP24A1 | c.599T>G (p.Val200Gly) c.173T>G (p.Val58Gly) | dbSNP |
| 20 | g.54169633A>G | CA409392424 | CYP24A1 | c.599T>C (p.Val200Ala) c.173T>C (p.Val58Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54169633A>T | CA409392425 | CYP24A1 | c.599T>A (p.Val200Asp) c.173T>A (p.Val58Asp) | dbSNP |
| 20 | g.54169634C>A | CA409392426 | CYP24A1 | c.598G>T (p.Val200Phe) c.172G>T (p.Val58Phe) | dbSNP |
| 20 | g.54169634C= | CA2370270043 | CYP24A1 | c.598G= (p.Val200=) c.172G= (p.Val58=) | |
| 20 | g.54169634C>G | CA409392427 | CYP24A1 | c.598G>C (p.Val200Leu) c.172G>C (p.Val58Leu) | dbSNP |
| 20 | g.54169634C>T | CA9916080 | CYP24A1 | c.598G>A (p.Val200Ile) c.172G>A (p.Val58Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169635G>A | CA9916081 | CYP24A1 | c.597C>T (p.His199=) c.171C>T (p.His57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169635G>C | CA409392429 | CYP24A1 | c.597C>G (p.His199Gln) c.171C>G (p.His57Gln) | dbSNP |
| 20 | g.54169635G= | CA2370270044 | CYP24A1 | c.597C= (p.His199=) c.171C= (p.His57=) | |
| 20 | g.54169635G>T | CA409392428 | CYP24A1 | c.597C>A (p.His199Gln) c.171C>A (p.His57Gln) | |
| 20 | g.54169636T>A | CA409392430 | CYP24A1 | c.596A>T (p.His199Leu) c.170A>T (p.His57Leu) | |
| 20 | g.54169636T>C | CA409392432 | CYP24A1 | c.596A>G (p.His199Arg) c.170A>G (p.His57Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54169636T>G | CA409392431 | CYP24A1 | c.596A>C (p.His199Pro) c.170A>C (p.His57Pro) | |
| 20 | g.54169636T= | CA2370270045 | CYP24A1 | c.596A= (p.His199=) c.170A= (p.His57=) | |
| 20 | g.54169637G>A | CA409392433 | CYP24A1 | c.595C>T (p.His199Tyr) c.169C>T (p.His57Tyr) | dbSNP |
| 20 | g.54169637G>C | CA409392434 | CYP24A1 | c.595C>G (p.His199Asp) c.169C>G (p.His57Asp) | dbSNP |
| 20 | g.54169637G>T | CA409392435 | CYP24A1 | c.595C>A (p.His199Asn) c.169C>A (p.His57Asn) | |
| 20 | g.54169638G>A | CA510910451 | CYP24A1 | c.594C>T (p.Gly198=) c.168C>T (p.Gly56=) | |
| 20 | g.54169638G>C | CA510910452 | CYP24A1 | c.594C>G (p.Gly198=) c.168C>G (p.Gly56=) | |
| 20 | g.54169638G>T | CA510910453 | CYP24A1 | c.594C>A (p.Gly198=) c.168C>A (p.Gly56=) | |
| 20 | g.54169639C>A | CA409392436 | CYP24A1 | c.593G>T (p.Gly198Val) c.167G>T (p.Gly56Val) | dbSNP |
| 20 | g.54169639C>G | CA409392437 | CYP24A1 | c.593G>C (p.Gly198Ala) c.167G>C (p.Gly56Ala) | dbSNP |
| 20 | g.54169639C>T | CA409392438 | CYP24A1 | c.593G>A (p.Gly198Asp) c.167G>A (p.Gly56Asp) | dbSNP |
| 20 | g.54169640C>A | CA409392439 | CYP24A1 | c.592G>T (p.Gly198Cys) c.166G>T (p.Gly56Cys) | |
| 20 | g.54169640C>G | CA409392440 | CYP24A1 | c.592G>C (p.Gly198Arg) c.166G>C (p.Gly56Arg) | dbSNP |
| 20 | g.54169640C>T | CA409392441 | CYP24A1 | c.592G>A (p.Gly198Ser) c.166G>A (p.Gly56Ser) | dbSNP gnomAD v4 |
| 20 | g.54169640_54169641delinsCT | CA2370270046 | CYP24A1 | c.591_592delinsAG (p.Arg197=) c.165_166delinsAG (p.Arg55=) | |
| 20 | g.54169641del | CA9916082 | CYP24A1 | c.591del (p.Gly198AlafsTer10) c.165del (p.Gly56AlafsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54169641T>A | CA409392442 | CYP24A1 | c.591A>T (p.Arg197Ser) c.165A>T (p.Arg55Ser) | dbSNP |
| 20 | g.54169641T>C | CA510910454 | CYP24A1 | c.591A>G (p.Arg197=) c.165A>G (p.Arg55=) | dbSNP |
| 20 | g.54169641T>G | CA409392443 | CYP24A1 | c.591A>C (p.Arg197Ser) c.165A>C (p.Arg55Ser) | |
| 20 | g.54169642C>A | CA409392445 | CYP24A1 | c.590G>T (p.Arg197Ile) c.164G>T (p.Arg55Ile) | |
| 20 | g.54169642C= | CA2370270047 | CYP24A1 | c.590G= (p.Arg197=) c.164G= (p.Arg55=) | |
| 20 | g.54169642C>G | CA409392444 | CYP24A1 | c.590G>C (p.Arg197Thr) c.164G>C (p.Arg55Thr) | |
| 20 | g.54169642C>T | CA9916083 | CYP24A1 | c.590G>A (p.Arg197Lys) c.164G>A (p.Arg55Lys) | dbSNP ExAC gnomAD v4 COSMIC |
| 20 | g.54169642_54169644delinsCTT | CA2370270048 | CYP24A1 | c.588_590delinsAAG (p.Glu196=) c.162_164delinsAAG (p.Glu54=) | |
| 20 | g.54169643T>A | CA409392446 | CYP24A1 | c.589A>T (p.Arg197Ter) c.163A>T (p.Arg55Ter) | |
| 20 | g.54169643T>C | CA409392447 | CYP24A1 | c.589A>G (p.Arg197Gly) c.163A>G (p.Arg55Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54169643T>G | CA510910455 | CYP24A1 | c.589A>C (p.Arg197=) c.163A>C (p.Arg55=) | |
| 20 | g.54169643T= | CA2370270050 | CYP24A1 | c.589A= (p.Arg197=) c.163A= (p.Arg55=) | |
| 20 | g.54169644_54169645del | CA2370270049 | CYP24A1 | c.588_589del (p.Gly198ProfsTer3) c.162_163del (p.Gly56ProfsTer3) | dbSNP gnomAD v4 |
| 20 | g.54169644T>A | CA409392448 | CYP24A1 | c.588A>T (p.Glu196Asp) c.162A>T (p.Glu54Asp) | |
| 20 | g.54169644T>C | CA510910456 | CYP24A1 | c.588A>G (p.Glu196=) c.162A>G (p.Glu54=) | dbSNP |
| 20 | g.54169644T>G | CA409392449 | CYP24A1 | c.588A>C (p.Glu196Asp) c.162A>C (p.Glu54Asp) | dbSNP gnomAD v4 |
| 20 | g.54169644T= | CA2370270051 | CYP24A1 | c.588A= (p.Glu196=) c.162A= (p.Glu54=) | |
| 20 | g.54169645T>A | CA409392450 | CYP24A1 | c.587A>T (p.Glu196Val) c.161A>T (p.Glu54Val) | dbSNP |
| 20 | g.54169645T>C | CA409392451 | CYP24A1 | c.587A>G (p.Glu196Gly) c.161A>G (p.Glu54Gly) | gnomAD v4 |
| 20 | g.54169645T>G | CA409392452 | CYP24A1 | c.587A>C (p.Glu196Ala) c.161A>C (p.Glu54Ala) | |
| 20 | g.54169646C>A | CA409392453 | CYP24A1 | c.586G>T (p.Glu196Ter) c.160G>T (p.Glu54Ter) | |
| 20 | g.54169646C>G | CA409392454 | CYP24A1 | c.586G>C (p.Glu196Gln) c.160G>C (p.Glu54Gln) | dbSNP |
| 20 | g.54169646C>T | CA409392455 | CYP24A1 | c.586G>A (p.Glu196Lys) c.160G>A (p.Glu54Lys) | dbSNP |
| 20 | g.54169647A= | CA2370270052 | CYP24A1 | c.585T= (p.Asp195=) c.159T= (p.Asp53=) | |
| 20 | g.54169647A>C | CA409392456 | CYP24A1 | c.585T>G (p.Asp195Glu) c.159T>G (p.Asp53Glu) | |
| 20 | g.54169647A>G | CA9916084 | CYP24A1 | c.585T>C (p.Asp195=) c.159T>C (p.Asp53=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54169647A>T | CA409392457 | CYP24A1 | c.585T>A (p.Asp195Glu) c.159T>A (p.Asp53Glu) | dbSNP |
| 20 | g.54169648T>A | CA409392459 | CYP24A1 | c.584A>T (p.Asp195Val) c.158A>T (p.Asp53Val) | |
| 20 | g.54169648T>C | CA409392460 | CYP24A1 | c.584A>G (p.Asp195Gly) c.158A>G (p.Asp53Gly) | |
| 20 | g.54169648T>G | CA409392458 | CYP24A1 | c.584A>C (p.Asp195Ala) c.158A>C (p.Asp53Ala) | |
| 20 | g.54169649C>A | CA409392461 | CYP24A1 | c.583G>T (p.Asp195Tyr) c.157G>T (p.Asp53Tyr) | |
| 20 | g.54169649C= | CA2370270053 | CYP24A1 | c.583G= (p.Asp195=) c.157G= (p.Asp53=) | |
| 20 | g.54169649C>G | CA409392462 | CYP24A1 | c.583G>C (p.Asp195His) c.157G>C (p.Asp53His) | dbSNP |
| 20 | g.54169649C>T | CA409392463 | CYP24A1 | c.583G>A (p.Asp195Asn) c.157G>A (p.Asp53Asn) | dbSNP COSMIC |
| 20 | g.54169650A>C | CA409392464 | CYP24A1 | c.582T>G (p.Cys194Trp) c.156T>G (p.Cys52Trp) | |
| 20 | g.54169650A>G | CA510910457 | CYP24A1 | c.582T>C (p.Cys194=) c.156T>C (p.Cys52=) | |
| 20 | g.54169650A>T | CA409392465 | CYP24A1 | c.582T>A (p.Cys194Ter) c.156T>A (p.Cys52Ter) | dbSNP |
| 20 | g.54169651C>A | CA409392466 | CYP24A1 | c.581G>T (p.Cys194Phe) c.155G>T (p.Cys52Phe) | |
| 20 | g.54169651C= | CA2370270054 | CYP24A1 | c.581G= (p.Cys194=) c.155G= (p.Cys52=) | |
| 20 | g.54169651C>G | CA409392467 | CYP24A1 | c.581G>C (p.Cys194Ser) c.155G>C (p.Cys52Ser) | dbSNP |
| 20 | g.54169651C>T | CA409392468 | CYP24A1 | c.581G>A (p.Cys194Tyr) c.155G>A (p.Cys52Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169652A>C | CA409392469 | CYP24A1 | c.580T>G (p.Cys194Gly) c.154T>G (p.Cys52Gly) | |
| 20 | g.54169652A>G | CA409392470 | CYP24A1 | c.580T>C (p.Cys194Arg) c.154T>C (p.Cys52Arg) | dbSNP |
| 20 | g.54169652A>T | CA409392471 | CYP24A1 | c.580T>A (p.Cys194Ser) c.154T>A (p.Cys52Ser) | |
| 20 | g.54169653G>A | CA9916085 | CYP24A1 | c.579C>T (p.Leu193=) c.153C>T (p.Leu51=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169653G>C | CA510910458 | CYP24A1 | c.579C>G (p.Leu193=) c.153C>G (p.Leu51=) | |
| 20 | g.54169653G= | CA2370270055 | CYP24A1 | c.579C= (p.Leu193=) c.153C= (p.Leu51=) | |
| 20 | g.54169653G>T | CA510910459 | CYP24A1 | c.579C>A (p.Leu193=) c.153C>A (p.Leu51=) | COSMIC |
| 20 | g.54169654A>C | CA409392474 | CYP24A1 | c.578T>G (p.Leu193Arg) c.152T>G (p.Leu51Arg) | |
| 20 | g.54169654A>G | CA409392472 | CYP24A1 | c.578T>C (p.Leu193Pro) c.152T>C (p.Leu51Pro) | |
| 20 | g.54169654A>T | CA409392473 | CYP24A1 | c.578T>A (p.Leu193His) c.152T>A (p.Leu51His) | dbSNP |
| 20 | g.54169655G>A | CA409392475 | CYP24A1 | c.577C>T (p.Leu193Phe) c.151C>T (p.Leu51Phe) | COSMIC |
| 20 | g.54169655G>C | CA409392476 | CYP24A1 | c.577C>G (p.Leu193Val) c.151C>G (p.Leu51Val) | dbSNP |
| 20 | g.54169655G= | CA2370270056 | CYP24A1 | c.577C= (p.Leu193=) c.151C= (p.Leu51=) | |
| 20 | g.54169655G>T | CA9916086 | CYP24A1 | c.577C>A (p.Leu193Ile) c.151C>A (p.Leu51Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169656C>A | CA409392477 | CYP24A1 | c.576G>T (p.Glu192Asp) c.150G>T (p.Glu50Asp) | |
| 20 | g.54169656C= | CA2370270057 | CYP24A1 | c.576G= (p.Glu192=) c.150G= (p.Glu50=) | |
| 20 | g.54169656C>G | CA9916087 | CYP24A1 | c.576G>C (p.Glu192Asp) c.150G>C (p.Glu50Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169656C>T | CA510910460 | CYP24A1 | c.576G>A (p.Glu192=) c.150G>A (p.Glu50=) | |
| 20 | g.54169657T>A | CA409392478 | CYP24A1 | c.575A>T (p.Glu192Val) c.149A>T (p.Glu50Val) | dbSNP |
| 20 | g.54169657T>C | CA9916088 | CYP24A1 | c.575A>G (p.Glu192Gly) c.149A>G (p.Glu50Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169657T>G | CA409392479 | CYP24A1 | c.575A>C (p.Glu192Ala) c.149A>C (p.Glu50Ala) | |
| 20 | g.54169657T= | CA2370270058 | CYP24A1 | c.575A= (p.Glu192=) c.149A= (p.Glu50=) | |
| 20 | g.54169658C>A | CA409392480 | CYP24A1 | c.574G>T (p.Glu192Ter) c.148G>T (p.Glu50Ter) | |
| 20 | g.54169658C= | CA2370270059 | CYP24A1 | c.574G= (p.Glu192=) c.148G= (p.Glu50=) | |
| 20 | g.54169658C>G | CA409392481 | CYP24A1 | c.574G>C (p.Glu192Gln) c.148G>C (p.Glu50Gln) | dbSNP |
| 20 | g.54169658C>T | CA409392482 | CYP24A1 | c.574G>A (p.Glu192Lys) c.148G>A (p.Glu50Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54169659A= | CA2370270060 | CYP24A1 | c.573T= (p.Asp191=) c.147T= (p.Asp49=) | |
| 20 | g.54169659A>C | CA9916089 | CYP24A1 | c.573T>G (p.Asp191Glu) c.147T>G (p.Asp49Glu) | dbSNP ExAC gnomAD v4 |
| 20 | g.54169659A>G | CA510910461 | CYP24A1 | c.573T>C (p.Asp191=) c.147T>C (p.Asp49=) | gnomAD v4 |
| 20 | g.54169659A>T | CA409392483 | CYP24A1 | c.573T>A (p.Asp191Glu) c.147T>A (p.Asp49Glu) | dbSNP |
| 20 | g.54169660T>A | CA9916090 | CYP24A1 | c.572A>T (p.Asp191Val) c.146A>T (p.Asp49Val) | dbSNP ExAC gnomAD v2 |
| 20 | g.54169660T>C | CA409392485 | CYP24A1 | c.572A>G (p.Asp191Gly) c.146A>G (p.Asp49Gly) | gnomAD v4 |
| 20 | g.54169660T>G | CA409392484 | CYP24A1 | c.572A>C (p.Asp191Ala) c.146A>C (p.Asp49Ala) | |
| 20 | g.54169660T= | CA2370270061 | CYP24A1 | c.572A= (p.Asp191=) c.146A= (p.Asp49=) | |
| 20 | g.54169661C>A | CA9916091 | CYP24A1 | c.571G>T (p.Asp191Tyr) c.145G>T (p.Asp49Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169661C= | CA2370270062 | CYP24A1 | c.571G= (p.Asp191=) c.145G= (p.Asp49=) | |
| 20 | g.54169661C>G | CA409392486 | CYP24A1 | c.571G>C (p.Asp191His) c.145G>C (p.Asp49His) | dbSNP |
| 20 | g.54169661C>T | CA409392487 | CYP24A1 | c.571G>A (p.Asp191Asn) c.145G>A (p.Asp49Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169662T>A | CA510910462 | CYP24A1 | c.570A>T (p.Ile190=) c.144A>T (p.Ile48=) | dbSNP |
| 20 | g.54169662T>C | CA409392488 | CYP24A1 | c.570A>G (p.Ile190Met) c.144A>G (p.Ile48Met) | dbSNP |
| 20 | g.54169662T>G | CA510910463 | CYP24A1 | c.570A>C (p.Ile190=) c.144A>C (p.Ile48=) | |
| 20 | g.54169663A>C | CA409392489 | CYP24A1 | c.569T>G (p.Ile190Arg) c.143T>G (p.Ile48Arg) | dbSNP |
| 20 | g.54169663A>G | CA409392490 | CYP24A1 | c.569T>C (p.Ile190Thr) c.143T>C (p.Ile48Thr) | gnomAD v4 |
| 20 | g.54169663A>T | CA409392491 | CYP24A1 | c.569T>A (p.Ile190Lys) c.143T>A (p.Ile48Lys) | dbSNP |
| 20 | g.54169664T>A | CA409392492 | CYP24A1 | c.568A>T (p.Ile190Leu) c.142A>T (p.Ile48Leu) | |
| 20 | g.54169664T>C | CA409392493 | CYP24A1 | c.568A>G (p.Ile190Val) c.142A>G (p.Ile48Val) | |
| 20 | g.54169664T>G | CA409392494 | CYP24A1 | c.568A>C (p.Ile190Leu) c.142A>C (p.Ile48Leu) | |
| 20 | g.54169665T>A | CA409392495 | CYP24A1 | c.567A>T (p.Arg189Ser) c.141A>T (p.Arg47Ser) | dbSNP |
| 20 | g.54169665T>C | CA510910464 | CYP24A1 | c.567A>G (p.Arg189=) c.141A>G (p.Arg47=) | |
| 20 | g.54169665T>G | CA409392496 | CYP24A1 | c.567A>C (p.Arg189Ser) c.141A>C (p.Arg47Ser) | |
| 20 | g.54169666C>A | CA409392499 | CYP24A1 | c.566G>T (p.Arg189Ile) c.140G>T (p.Arg47Ile) | dbSNP |
| 20 | g.54169666C= | CA2370270063 | CYP24A1 | c.566G= (p.Arg189=) c.140G= (p.Arg47=) | |
| 20 | g.54169666C>G | CA409392497 | CYP24A1 | c.566G>C (p.Arg189Thr) c.140G>C (p.Arg47Thr) | dbSNP |
| 20 | g.54169666C>T | CA409392498 | CYP24A1 | c.566G>A (p.Arg189Lys) c.140G>A (p.Arg47Lys) | dbSNP gnomAD v4 |
| 20 | g.54169666_54169667insATGTGCCACCATGCCTGCCTTTCATGTTCTTTCTTAACTCCCTTTCTCTTTTCCTT | CA2653391159 | CYP24A1 | c.565_566insAAGGAAAAGAGAAAGGGAGTTAAGAAAGAACATGAAAGGCAGGCATGGTGGCACAT (p.Arg189LysfsTer8) c.139_140insAAGGAAAAGAGAAAGGGAGTTAAGAAAGAACATGAAAGGCAGGCATGGTGGCACAT (p.Arg47LysfsTer8) | gnomAD v4 |
| 20 | g.54169667T>A | CA409392500 | CYP24A1 | c.565A>T (p.Arg189Ter) c.139A>T (p.Arg47Ter) | |
| 20 | g.54169667T>C | CA409392501 | CYP24A1 | c.565A>G (p.Arg189Gly) c.139A>G (p.Arg47Gly) | |
| 20 | g.54169667T>G | CA510910465 | CYP24A1 | c.565A>C (p.Arg189=) c.139A>C (p.Arg47=) | |
| 20 | g.54169668G>A | CA510910466 | CYP24A1 | c.564C>T (p.Gly188=) c.138C>T (p.Gly46=) | dbSNP |
| 20 | g.54169668G>C | CA510910467 | CYP24A1 | c.564C>G (p.Gly188=) c.138C>G (p.Gly46=) | dbSNP |
| 20 | g.54169668G>T | CA510910468 | CYP24A1 | c.564C>A (p.Gly188=) c.138C>A (p.Gly46=) | |
| 20 | g.54169669C>A | CA409392502 | CYP24A1 | c.563G>T (p.Gly188Val) c.137G>T (p.Gly46Val) | dbSNP |
| 20 | g.54169669C= | CA2370270064 | CYP24A1 | c.563G= (p.Gly188=) c.137G= (p.Gly46=) | |
| 20 | g.54169669C>G | CA409392503 | CYP24A1 | c.563G>C (p.Gly188Ala) c.137G>C (p.Gly46Ala) | dbSNP |
| 20 | g.54169669C>T | CA9916092 | CYP24A1 | c.563G>A (p.Gly188Asp) c.137G>A (p.Gly46Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169670C>A | CA409392504 | CYP24A1 | c.562G>T (p.Gly188Cys) c.136G>T (p.Gly46Cys) | dbSNP gnomAD v4 |
| 20 | g.54169670C>G | CA409392505 | CYP24A1 | c.562G>C (p.Gly188Arg) c.136G>C (p.Gly46Arg) | dbSNP |
| 20 | g.54169670C>T | CA409392506 | CYP24A1 | c.562G>A (p.Gly188Ser) c.136G>A (p.Gly46Ser) | dbSNP |
| 20 | g.54169671C>A | CA409392507 | CYP24A1 | c.561G>T (p.Met187Ile) c.135G>T (p.Met45Ile) | |
| 20 | g.54169671C= | CA2370270065 | CYP24A1 | c.561G= (p.Met187=) c.135G= (p.Met45=) | |
| 20 | g.54169671C>G | CA409392508 | CYP24A1 | c.561G>C (p.Met187Ile) c.135G>C (p.Met45Ile) | |
| 20 | g.54169671C>T | CA9916093 | CYP24A1 | c.561G>A (p.Met187Ile) c.135G>A (p.Met45Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54169672A= | CA2370270066 | CYP24A1 | c.560T= (p.Met187=) c.134T= (p.Met45=) | |
| 20 | g.54169672A>C | CA409392510 | CYP24A1 | c.560T>G (p.Met187Arg) c.134T>G (p.Met45Arg) | |
| 20 | g.54169672A>G | CA9916094 | CYP24A1 | c.560T>C (p.Met187Thr) c.134T>C (p.Met45Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54169672A>T | CA409392509 | CYP24A1 | c.560T>A (p.Met187Lys) c.134T>A (p.Met45Lys) | |
| 20 | g.54169673T>A | CA409392511 | CYP24A1 | c.559A>T (p.Met187Leu) c.133A>T (p.Met45Leu) | dbSNP gnomAD v2 |
| 20 | g.54169673T>C | CA409392512 | CYP24A1 | c.559A>G (p.Met187Val) c.133A>G (p.Met45Val) | |
| 20 | g.54169673T>G | CA409392513 | CYP24A1 | c.559A>C (p.Met187Leu) c.133A>C (p.Met45Leu) | gnomAD v4 |
| 20 | g.54169673T= | CA2370270067 | CYP24A1 | c.559A= (p.Met187=) c.133A= (p.Met45=) |