P06401
EV
Gene name |
PGR (NR3C3) |
Protein name |
Progesterone receptor |
Names |
PR, Nuclear receptor subfamily 3 group C member 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5241 |
EC number |
|
Protein Class |
KNIRPS-RELATED PROTEIN-RELATED (PTHR48092) |
Descriptions
Human progesterone receptor A (PR-A) and B (PR-B) isoforms are members of the nuclear receptor family of ligand-activated transcription factors. The two PR proteins are identical except that PR-B contains an additional 164 N-terminal amino acids in the B upstream segment (BUS).
In PR-B, the deletion of the autoinhibitory region increases the transcriptional activity. In PR-A, deletion of the same region also increases its transcriptional activity. The autoinhibitory region contains a SUMO-1 binding motif (IKEE) and mutation within the motif leads to loss of autoinhibitory function.
Autoinhibitory domains (AIDs)
Target domain |
687-933 (hormone binding domain) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
21 structures for P06401
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1A28 | X-ray | 180 A | A/B | 678-933 | PDB |
| 1E3K | X-ray | 280 A | A/B | 676-933 | PDB |
| 1SQN | X-ray | 145 A | A/B | 673-933 | PDB |
| 1SR7 | X-ray | 146 A | A/B | 676-933 | PDB |
| 1ZUC | X-ray | 200 A | A/B | 676-933 | PDB |
| 2C7A | X-ray | 250 A | A/B | 563-640 | PDB |
| 2OVH | X-ray | 200 A | A | 678-933 | PDB |
| 2OVM | X-ray | 260 A | A | 678-933 | PDB |
| 2W8Y | X-ray | 180 A | A/B | 678-933 | PDB |
| 3D90 | X-ray | 226 A | A/B | 676-933 | PDB |
| 3G8O | X-ray | 190 A | A/B | 673-933 | PDB |
| 3HQ5 | X-ray | 210 A | A/B | 678-933 | PDB |
| 3KBA | X-ray | 200 A | A/B | 681-933 | PDB |
| 3ZR7 | X-ray | 165 A | A/B | 678-933 | PDB |
| 3ZRA | X-ray | 190 A | A/B | 678-933 | PDB |
| 3ZRB | X-ray | 180 A | A/B | 678-933 | PDB |
| 4A2J | X-ray | 200 A | A/B | 678-933 | PDB |
| 4APU | X-ray | 190 A | A/B | 678-933 | PDB |
| 4OAR | X-ray | 241 A | A | 678-933 | PDB |
| 5CC0 | X-ray | 240 A | A/B | 561-641 | PDB |
| AF-P06401-F1 | Predicted | AlphaFoldDB |
742 variants for P06401
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA382482304 rs1196735070 |
3 | E>A | No |
ClinGen gnomAD |
|
|
rs1481763731 CA382482296 |
4 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1256369660 CA382482291 |
5 | K>T | No |
ClinGen gnomAD |
|
|
rs1425983653 CA382482286 |
6 | A>T | No |
ClinGen gnomAD |
|
|
rs202123793 CA228195724 |
6 | A>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs757679709 CA6243993 |
9 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382482264 rs757679709 |
9 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228195722 rs1025431009 |
10 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382482260 rs1025431009 |
10 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6243992 rs754148309 |
11 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1300411195 CA382482253 |
12 | P>A | No |
ClinGen gnomAD |
|
|
rs973621938 CA228195721 |
12 | P>L | No |
ClinGen TOPMed |
|
|
CA382482243 rs1391730145 |
13 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA228195720 rs972790750 |
13 | H>Y | No |
ClinGen Ensembl |
|
|
CA6243991 rs760920621 |
14 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243990 rs760920621 |
14 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382482234 rs1328901959 |
15 | A>E | No |
ClinGen gnomAD |
|
|
rs962434146 CA228195719 |
16 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs767664725 CA6243988 |
17 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA382482222 rs767664725 |
17 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs759568940 CA6243987 |
18 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382482218 rs759568940 |
18 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774399131 CA6243986 |
20 | S>F | No |
ClinGen ExAC |
|
|
CA228195717 rs199841157 |
20 | S>P | No |
ClinGen TOPMed |
|
|
CA6243985 rs770746610 |
21 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382482182 rs1365969218 |
24 | G>V | No |
ClinGen gnomAD |
|
|
rs772873062 CA6243983 |
25 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs747756907 CA6243981 |
28 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6243979 rs754528074 |
29 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs567202506 CA6243980 |
29 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1016622652 CA228195715 |
30 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746468525 CA6243978 |
31 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA382482148 rs1372643781 |
31 | P>S | No |
ClinGen TOPMed |
|
|
rs1197704457 CA382482137 |
33 | A>S | No |
ClinGen gnomAD |
|
|
rs779538755 CA6243977 |
33 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA382482133 rs757691518 |
34 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6243976 rs757691518 |
34 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1393764426 CA382482124 |
35 | P>L | No |
ClinGen gnomAD |
|
|
rs764487268 CA6243974 |
36 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146230124 CA6243973 |
37 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382482112 rs146230124 |
37 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547307017 CA6243971 |
38 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382482101 rs1445536210 |
39 | S>I | No |
ClinGen gnomAD |
|
|
CA6243968 rs536303000 |
39 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6243967 rs372843224 |
40 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs577094242 CA228195713 |
41 | T>I | No |
ClinGen Ensembl |
|
|
CA6243966 rs141862537 |
44 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382482070 rs141862537 |
44 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382482069 rs141862537 |
44 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283697257 CA382486541 |
46 | P>L | No |
ClinGen gnomAD |
|
|
CA382486543 rs1283697257 |
46 | P>R | No |
ClinGen gnomAD |
|
|
CA6243964 rs148270826 |
47 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs148270826 CA6243965 |
47 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA382486523 rs1349242903 |
49 | S>L | No |
ClinGen Ensembl |
|
|
CA6243959 rs771472590 |
50 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11571143 VAR_019221 CA6243960 |
50 | A>T | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1373987810 CA382486513 |
51 | I>M | No |
ClinGen TOPMed |
|
|
rs113635284 RCV000967235 CA6243958 |
51 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA382486508 rs1402461722 |
52 | P>R | No |
ClinGen gnomAD |
|
|
rs369863850 CA6243956 |
54 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6243954 rs3740754 |
57 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6243953 rs3740754 |
57 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382486481 rs3740754 |
57 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751677036 CA6243952 |
58 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1373734471 CA382486462 |
60 | F>C | No |
ClinGen gnomAD |
|
|
CA382486466 rs1472554109 |
60 | F>L | No |
ClinGen gnomAD |
|
|
CA382486458 rs1489270172 |
61 | P>A | No |
ClinGen gnomAD |
|
|
CA228195712 rs200145151 |
61 | P>H | No |
ClinGen 1000Genomes |
|
|
CA6243950 rs762965993 |
62 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA382486441 rs750407171 |
64 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA228195710 rs868152278 |
64 | C>R | No |
ClinGen Ensembl |
|
|
CA6243949 rs750407171 |
64 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6243948 rs765125484 |
65 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA382486427 rs1391427840 |
66 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382486430 rs1301553115 |
66 | G>R | No |
ClinGen TOPMed |
|
|
rs776395620 CA6243946 |
69 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA382486391 rs1273531419 |
71 | D>E | No |
ClinGen TOPMed |
|
|
CA382486398 rs1216075683 |
71 | D>N | No |
ClinGen TOPMed |
|
|
rs868064003 CA228195708 |
72 | E>K | No |
ClinGen Ensembl |
|
|
CA382486376 rs1355191904 |
73 | K>N | No |
ClinGen gnomAD |
|
|
rs147067970 CA6243945 RCV000881915 |
75 | Q>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs918317234 CA228195707 |
76 | D>V | No |
ClinGen Ensembl |
|
|
CA6243942 rs771435218 |
78 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771435218 CA6243943 |
78 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745363836 CA6243941 |
79 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA382486328 rs778465984 |
81 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs778465984 CA6243940 |
81 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs972479477 CA228195706 |
85 | G>S | No |
ClinGen Ensembl |
|
|
rs868723861 CA228195705 |
86 | A>T | No |
ClinGen Ensembl |
|
|
CA6243935 rs751679548 |
87 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382486250 rs1476871650 |
93 | T>R | No |
ClinGen gnomAD |
|
|
CA6243934 rs780296630 |
94 | R>K | No |
ClinGen ExAC TOPMed |
|
|
rs780296630 CA382486246 |
94 | R>M | No |
ClinGen ExAC TOPMed |
|
|
rs758446042 CA6243933 |
94 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs780296630 CA228195704 |
94 | R>T | No |
ClinGen ExAC TOPMed |
|
|
rs750494595 CA6243932 |
95 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765215496 CA6243931 |
98 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA382486210 rs1248300760 |
100 | S>T | No |
ClinGen gnomAD |
|
|
rs573557192 CA6243930 |
101 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6243928 rs763755581 |
102 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA382486195 rs1565374613 |
102 | S>R | No |
ClinGen Ensembl |
|
|
CA382486192 rs1256796821 |
103 | P>L | No |
ClinGen gnomAD |
|
|
rs369804923 CA6243927 |
103 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA228195701 rs1029274929 |
104 | P>Q | No |
ClinGen TOPMed |
|
|
CA228195700 rs1029274929 |
104 | P>R | No |
ClinGen TOPMed |
|
|
CA382486184 rs1224677146 |
105 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs147932536 CA382486164 |
107 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147932536 CA6243926 |
107 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs998082338 CA228195699 |
107 | D>N | No |
ClinGen Ensembl |
|
|
rs771726033 CA6243925 |
108 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1324015244 CA382486159 |
108 | S>I | No |
ClinGen TOPMed |
|
|
rs1436170445 CA382486158 |
108 | S>R | No |
ClinGen gnomAD |
|
|
rs759187454 CA6243924 |
111 | L>M | No |
ClinGen ExAC |
|
|
CA6243923 rs773988513 |
111 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA382486123 rs1020891178 |
114 | V>D | No |
ClinGen gnomAD |
|
|
CA228195698 rs1020891178 |
114 | V>G | No |
ClinGen gnomAD |
|
|
rs748602793 CA6243921 |
117 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6243918 rs11571144 RCV000880422 VAR_019222 |
120 | A>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA382486082 rs1193989741 |
121 | P>S | No |
ClinGen gnomAD |
|
|
CA382486069 rs1477586939 |
123 | G>D | No |
ClinGen gnomAD |
|
|
rs183419419 CA228195697 |
124 | P>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs780204100 CA6243916 |
125 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191163476 CA6243917 |
125 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758631280 CA6243915 |
126 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs745958335 CA6243914 |
129 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778897733 CA6243913 |
130 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1335446824 CA382486021 |
131 | P>S | No |
ClinGen TOPMed |
|
|
rs1269921731 CA382486013 |
132 | P>H | No |
ClinGen gnomAD |
|
|
CA6243911 rs752828135 |
133 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382485997 rs1311841905 |
135 | E>K | No |
ClinGen gnomAD |
|
|
rs1444912730 CA382485989 |
136 | V>I | No |
ClinGen gnomAD |
|
|
CA6243910 rs764069958 |
138 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs755905259 CA6243909 |
138 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755905259 CA382485975 |
138 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382485966 rs1450269762 |
139 | S>F | No |
ClinGen gnomAD |
|
|
rs905769508 CA228195695 |
144 | G>D | No |
ClinGen TOPMed |
|
|
rs1357450142 CA382485926 |
145 | P>R | No |
ClinGen gnomAD |
|
|
rs1419173373 CA382485908 |
148 | P>R | No |
ClinGen TOPMed |
|
|
CA6243906 rs759209199 |
148 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160223812 CA382485904 |
149 | E>K | No |
ClinGen gnomAD |
|
|
rs774006750 CA6243905 |
150 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA228195694 rs774006750 |
150 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA228195693 rs1045678400 |
150 | D>V | No |
ClinGen Ensembl |
|
|
CA6243904 rs558764200 |
151 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382485890 rs1565374436 |
151 | P>S | No |
ClinGen Ensembl |
|
|
CA382485885 rs1565374422 |
152 | P>S | No |
ClinGen Ensembl |
|
|
rs762525705 CA6243903 |
154 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs988187452 CA228195691 |
154 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6243902 rs769198841 |
155 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382485871 rs769198841 |
155 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243901 rs769198841 |
155 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238389266 CA382485865 |
156 | A>S | No |
ClinGen gnomAD |
|
|
rs1353318857 CA382485858 |
157 | T>I | No |
ClinGen gnomAD |
|
|
rs1591440355 CA382485861 |
157 | T>P | No |
ClinGen Ensembl |
|
|
CA382485846 rs1230199760 |
159 | R>W | No |
ClinGen gnomAD |
|
|
rs768580331 CA6243899 |
160 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1447279102 CA382485831 |
161 | L>F | No |
ClinGen gnomAD |
|
|
rs950020817 CA228195690 |
162 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA382485830 rs1361085772 |
162 | S>P | No |
ClinGen gnomAD |
|
|
CA382485823 rs1359610837 |
163 | P>Q | No |
ClinGen gnomAD |
|
|
CA6243898 rs772284923 |
163 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243897 rs746050263 |
164 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411064494 CA382485814 |
165 | M>V | No |
ClinGen gnomAD |
|
|
CA6243896 rs778985886 |
166 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs372324844 CA382485799 |
167 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1591440269 CA382485798 |
167 | R>Q | No |
ClinGen Ensembl |
|
|
rs372324844 CA6243895 |
167 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368109236 CA6243894 |
169 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756068415 CA6243892 |
171 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs548349072 CA6243893 |
171 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548349072 CA228195686 |
171 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376101426 CA6243891 |
172 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382485766 rs1312187959 |
173 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1219297287 CA382485746 |
175 | S>R | No |
ClinGen gnomAD |
|
|
rs767280663 CA6243890 |
177 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382485733 rs1591440212 |
178 | T>A | No |
ClinGen Ensembl |
|
|
rs755210219 CA6243889 |
178 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA228195685 rs755210219 |
178 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA228195683 rs922276927 |
179 | A>G | No |
ClinGen Ensembl |
|
|
rs766095679 CA6243887 |
180 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243888 rs751301557 |
180 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA228195682 rs751797657 |
181 | A>G | No |
ClinGen Ensembl |
|
|
CA382485713 rs1454396105 |
182 | H>Y | No |
ClinGen TOPMed |
|
|
rs1163518231 CA382485690 |
185 | L>P | No |
ClinGen gnomAD |
|
|
rs11571145 VAR_019223 CA6243883 |
186 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA382485686 rs1425099640 |
186 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA228195681 rs111394262 |
187 | R>G | No |
ClinGen Ensembl |
|
|
rs775748482 CA6243882 |
187 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382485679 rs759872729 |
188 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759872729 CA6243880 |
188 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414045834 CA382485672 |
189 | L>P | No |
ClinGen TOPMed |
|
|
rs1320140577 CA382485660 |
191 | P>L | No |
ClinGen gnomAD |
|
|
CA228195680 rs897859352 |
193 | R>L | No |
ClinGen TOPMed |
|
|
rs771138591 CA6243878 |
194 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243876 rs777853563 |
198 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365162762 CA382485617 |
199 | A>D | No |
ClinGen gnomAD |
|
|
rs1365162762 CA382485616 |
199 | A>G | No |
ClinGen gnomAD |
|
|
CA6243875 rs769626706 |
200 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382485603 rs748082098 |
201 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382485605 rs1401863152 |
201 | E>G | No |
ClinGen gnomAD |
|
|
CA6243873 rs781160929 |
202 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754855993 CA6243872 |
203 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6243870 rs779908449 |
206 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs567928186 CA6243868 |
207 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567928186 CA382485567 |
207 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764762671 CA6243867 |
208 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1198052425 CA382485549 |
210 | V>L | No |
ClinGen gnomAD |
|
|
CA382485544 rs1338718666 |
211 | K>E | No |
ClinGen gnomAD |
|
|
rs888933438 CA228195679 |
212 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1235270148 CA382485537 |
212 | P>T | No |
ClinGen gnomAD |
|
|
rs1050185598 CA228195678 |
214 | P>L | No |
ClinGen TOPMed |
|
|
rs753295473 CA6243865 |
214 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243863 rs759960940 |
217 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA382485503 rs1390292398 |
218 | A>T | No |
ClinGen gnomAD |
|
|
CA6243860 rs200322178 |
221 | V>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771156945 CA6243861 |
221 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243857 rs377545422 |
224 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382485443 rs1378672033 |
226 | G>V | No |
ClinGen gnomAD |
|
|
rs781341961 CA6243856 |
227 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1443104910 CA382485427 |
229 | S>A | No |
ClinGen gnomAD |
|
|
rs768698818 CA6243855 |
229 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1482228418 CA382485424 |
230 | E>K | No |
ClinGen gnomAD |
|
|
rs1036856444 CA228195676 |
231 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1052227689 CA228195677 |
231 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1036856444 CA382485413 |
231 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs571355035 CA228195674 |
232 | S>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs941211595 CA228195675 |
232 | S>T | No |
ClinGen TOPMed |
|
|
CA6243853 rs746812024 |
233 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA382485406 rs746812024 |
233 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779926918 CA6243852 |
233 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228195673 rs909621874 |
234 | G>D | No |
ClinGen Ensembl |
|
|
CA6243851 rs750042441 |
235 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750042441 CA6243850 |
235 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756832474 CA6243848 |
237 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243845 rs759981097 |
238 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382485376 rs1299240489 |
239 | G>S | No |
ClinGen gnomAD |
|
|
rs751928066 CA6243844 |
241 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA382485354 rs1173678519 |
242 | R>L | No |
ClinGen TOPMed |
|
|
rs200987911 CA6243843 |
242 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1343592308 CA382485353 |
243 | A>T | No |
ClinGen gnomAD |
|
|
rs763110021 CA6243842 |
243 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382485340 rs1185502243 |
245 | G>D | No |
ClinGen gnomAD |
|
|
rs1370331005 CA382485341 |
245 | G>S | No |
ClinGen gnomAD |
|
|
CA382485325 rs1217189941 |
248 | A>T | No |
ClinGen gnomAD |
|
|
CA382485304 rs762007357 |
251 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs762007357 CA6243839 |
251 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1356602416 CA382485291 |
253 | A>V | No |
ClinGen gnomAD |
|
|
CA382485286 rs1354212148 |
254 | A>E | No |
ClinGen gnomAD |
|
|
CA382485289 rs1241953281 |
254 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA382485290 rs1241953281 |
254 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1402324857 CA382485282 |
255 | A>T | No |
ClinGen gnomAD |
|
|
CA228195668 rs968931479 |
256 | V>L | No |
ClinGen TOPMed |
|
|
CA382485269 rs746902021 |
257 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746902021 CA6243835 |
257 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs771950812 CA6243833 |
258 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243834 rs771950812 |
258 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382485261 rs1298114491 |
259 | G>A | No |
ClinGen TOPMed |
|
|
CA228195666 rs916183926 |
259 | G>W | No |
ClinGen TOPMed |
|
|
CA6243831 rs778694496 |
260 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778694496 CA6243832 |
260 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756847705 CA6243830 |
260 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6243828 rs777200707 |
263 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA382485236 rs1591439680 |
264 | G>D | No |
ClinGen Ensembl |
|
|
CA6243825 rs766777673 |
266 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1333528332 CA382485227 |
266 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758860074 CA6243824 |
267 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1467257307 CA382485202 |
270 | K>R | No |
ClinGen TOPMed |
|
|
CA382485198 rs1270021730 |
271 | E>K | No |
ClinGen gnomAD |
|
|
rs548732553 CA6243822 |
272 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382485190 rs548732553 |
272 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765506746 CA6243821 |
274 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321866717 CA382485173 |
274 | R>H | No |
ClinGen gnomAD |
|
|
rs776880789 CA6243819 |
277 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776880789 CA382485155 |
277 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456020276 CA382485153 |
278 | P>T | No |
ClinGen TOPMed |
|
|
CA228195663 rs962335075 |
281 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382485133 rs962335075 |
281 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764219491 CA6243818 |
285 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6243817 rs200529590 |
286 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA228195662 rs1016294484 |
286 | D>N | No |
ClinGen TOPMed |
|
|
rs775608193 CA6243816 |
287 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382485096 rs775608193 |
287 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382485097 rs775608193 |
287 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889006837 CA382485089 |
288 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs889006837 CA228195661 |
288 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6243814 rs745733772 |
289 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs773960696 CA6243813 |
292 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243811 rs748902142 |
293 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243812 rs770624085 |
293 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755673175 CA6243809 |
294 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444679940 CA382485040 |
297 | A>S | No |
ClinGen gnomAD |
|
|
rs780664530 CA6243807 |
299 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243804 rs765476482 |
300 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs11571146 VAR_019224 CA228195659 |
301 | M>R | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs1160724466 CA382484994 |
304 | I>F | No |
ClinGen TOPMed |
|
|
CA382484980 rs1380505844 |
306 | V>L | No |
ClinGen gnomAD |
|
|
CA382484981 rs1380505844 |
306 | V>M | No |
ClinGen gnomAD |
|
|
CA228195658 rs935126634 |
308 | I>V | No |
ClinGen TOPMed |
|
|
rs764379113 CA382484957 |
310 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs764379113 CA6243801 |
310 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs373360839 CA6243800 |
311 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1415882766 CA382484944 |
312 | N>S | No |
ClinGen TOPMed |
|
|
CA6243798 rs767505462 |
314 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs759326627 CA6243797 |
315 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA382484922 rs759326627 |
315 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA382484904 rs1222241147 |
318 | A>G | No |
ClinGen gnomAD |
|
|
rs1372729325 CA382484900 |
319 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA228195655 rs867516411 |
319 | R>H | No |
ClinGen Ensembl |
|
|
rs1372729325 CA382484902 |
319 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6243796 rs774235489 |
320 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA6243794 rs370383285 |
321 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6243795 rs370383285 |
321 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1310908082 CA382484889 |
322 | Q>K | No |
ClinGen gnomAD |
|
|
rs769437068 CA6243792 |
325 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769437068 CA382484871 |
325 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780514483 CA6243790 |
327 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1474095345 CA382484845 |
328 | S>T | No |
ClinGen gnomAD |
|
|
CA6243789 rs772659505 |
329 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs772659505 CA382484837 |
329 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA382484832 rs1488841553 |
330 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6243787 rs779446565 |
331 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs757746136 CA6243786 |
332 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382484809 rs1482270862 |
334 | G>R | No |
ClinGen TOPMed |
|
|
CA6243784 rs778208375 |
335 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1340917879 CA382484790 |
337 | S>N | No |
ClinGen gnomAD |
|
|
CA382484787 rs34852313 |
337 | S>R | No |
ClinGen gnomAD |
|
|
rs1340917879 CA382484789 |
337 | S>T | No |
ClinGen gnomAD |
|
|
CA228195652 rs752833544 |
338 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6243782 rs752833544 |
338 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1408080623 CA382484782 |
338 | A>V | No |
ClinGen TOPMed |
|
|
CA6243780 rs751488876 |
341 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6243779 rs751488876 |
341 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382484765 rs1156482903 |
341 | P>S | No |
ClinGen TOPMed |
|
|
rs1302681584 CA382484758 |
342 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772928866 CA6243776 |
343 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769453610 CA6243775 |
343 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382484754 rs1357912179 |
344 | S>C | No |
ClinGen TOPMed |
|
|
VAR_016117 CA6243774 rs3740753 |
344 | S>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6243773 rs776238690 |
345 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000947375 VAR_025555 CA6243771 rs11571147 |
347 | C>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779346757 CA6243770 |
347 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs749674024 CA382484721 |
349 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243768 rs749674024 |
349 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243766 rs11571148 |
352 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243765 rs11571148 |
352 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382484699 rs1380294697 |
353 | V>A | No |
ClinGen gnomAD |
|
|
CA382484702 rs1297536057 |
353 | V>I | No |
ClinGen gnomAD |
|
|
CA382484696 rs1293786886 |
354 | A>P | No |
ClinGen gnomAD |
|
|
rs79179039 CA228195650 |
355 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs79179039 CA6243764 |
355 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA382484688 rs79179039 |
355 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs370034247 CA228195648 |
357 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1254464822 CA382484667 |
358 | F>L | No |
ClinGen TOPMed |
|
|
rs1176282845 CA382484672 |
358 | F>L | No |
ClinGen TOPMed |
|
|
CA6243763 rs751642083 |
359 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751642083 CA6243762 |
359 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243760 rs377716203 |
360 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6243761 rs766312564 |
360 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193161439 CA382484641 |
363 | Y>H | No |
ClinGen gnomAD |
|
|
rs763790579 CA6243755 |
365 | P>L | No |
ClinGen ExAC |
|
|
rs771577435 CA6243752 |
367 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs773741495 CA6243750 |
368 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA228195645 rs1040714347 |
369 | P>L | No |
ClinGen Ensembl |
|
|
rs748521301 CA6243748 |
370 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368332615 CA382484577 |
372 | D>E | No |
ClinGen gnomAD |
|
|
CA6243747 rs781323181 |
373 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382484568 rs1296991899 |
374 | Y>C | No |
ClinGen gnomAD |
|
|
CA6243746 rs199751131 |
374 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228195643 rs1028866384 |
375 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382484556 rs1378623195 |
376 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6243744 rs780063529 |
377 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs11571149 CA228195641 |
378 | S>R | No |
ClinGen Ensembl |
|
|
CA382484538 rs750403105 |
379 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750403105 CA382484537 |
379 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243742 rs750403105 |
379 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441662508 CA382484526 |
380 | F>L | No |
ClinGen gnomAD |
|
|
rs765139714 CA6243740 |
380 | F>L | No |
ClinGen ExAC |
|
|
rs1488500425 CA382484528 |
380 | F>S | No |
ClinGen gnomAD |
|
|
CA382484522 rs1248452115 |
381 | Q>* | No |
ClinGen gnomAD |
|
|
rs1267765246 CA382484520 |
381 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs757060169 CA6243739 |
382 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382484508 rs1256440745 |
383 | P>H | No |
ClinGen gnomAD |
|
|
CA382484505 rs1345400480 |
384 | A>T | No |
ClinGen gnomAD |
|
|
CA382484486 rs1302242764 |
386 | K>N | No |
ClinGen gnomAD |
|
|
CA6243735 rs775161945 |
388 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA382484465 rs1285435894 |
389 | E>D | No |
ClinGen gnomAD |
|
|
rs767094365 CA6243734 |
389 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767094365 CA382484470 |
389 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304202369 CA382484457 |
390 | E>D | No |
ClinGen gnomAD |
|
|
CA6243733 rs759083606 |
392 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA228195640 rs980245445 |
394 | A>E | No |
ClinGen Ensembl |
|
|
rs748524564 CA6243729 |
395 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs770317902 CA6243730 |
395 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1159501011 CA382484421 |
396 | A>D | No |
ClinGen gnomAD |
|
|
CA6243728 rs776983648 |
396 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776983648 CA382484422 |
396 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382484415 rs1167112617 |
397 | S>F | No |
ClinGen TOPMed |
|
|
CA382484411 rs747217871 |
398 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6243726 rs747217871 |
398 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs778889652 CA6243723 |
399 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs369578132 CA228195639 |
399 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369578132 CA6243721 |
399 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382484406 rs369578132 |
399 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778889652 CA6243722 |
399 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1405633209 CA382484398 |
401 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1279278874 CA382484391 |
402 | R>C | No |
ClinGen gnomAD |
|
|
CA6243720 rs753587795 |
402 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA382484371 rs1258502528 |
405 | L>P | No |
ClinGen gnomAD |
|
|
CA6243719 rs553622254 |
405 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382484354 rs1295657471 |
408 | G>D | No |
ClinGen gnomAD |
|
|
CA382484356 rs1340483395 |
408 | G>R | No |
ClinGen gnomAD |
|
|
rs1340483395 CA382484357 |
408 | G>S | No |
ClinGen gnomAD |
|
|
CA382484348 rs1274438915 |
409 | A>D | No |
ClinGen TOPMed |
|
|
CA6243717 rs752435809 |
409 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1355282508 CA382484341 |
410 | N>T | No |
ClinGen gnomAD |
|
|
rs1402730866 CA382484337 |
411 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382484338 rs1402730866 |
411 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759171409 CA6243715 |
412 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs894851337 CA228195635 |
414 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751106946 CA382484310 |
415 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243714 rs751106946 |
415 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458479099 CA382484313 |
415 | P>S | No |
ClinGen gnomAD |
|
|
rs762336123 CA382484303 |
416 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474172577 CA382484309 |
416 | D>N | No |
ClinGen gnomAD |
|
|
rs776894876 CA6243711 |
418 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA382484280 rs775749546 |
420 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs775749546 CA6243708 |
420 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1005434284 CA228195632 |
422 | P>L | No |
ClinGen Ensembl |
|
|
CA6243707 rs772278936 |
424 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433285604 CA382484246 |
426 | P>L | No |
ClinGen gnomAD |
|
|
rs770795658 CA6243704 |
428 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382484229 rs749208871 |
429 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243703 rs749208871 |
429 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382484225 rs1396844023 |
430 | T>N | No |
ClinGen gnomAD |
|
|
rs1417056400 CA382484205 |
433 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752525568 CA6243700 |
434 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228195630 rs909263220 |
434 | P>S | No |
ClinGen TOPMed |
|
|
rs781055805 CA6243699 |
435 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1192092684 CA382484195 |
435 | G>V | No |
ClinGen gnomAD |
|
|
rs765876911 CA6243696 |
436 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs751123680 CA6243697 |
436 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762341135 CA6243695 |
438 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228195629 rs200761902 |
439 | V>G | No |
ClinGen gnomAD |
|
|
rs1269955354 CA382484165 |
441 | A>P | No |
ClinGen gnomAD |
|
|
CA6243690 rs772295478 |
442 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772295478 CA6243691 |
442 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382484160 rs772295478 |
442 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243689 rs759705255 |
442 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA382484156 rs1401034696 |
443 | P>S | No |
ClinGen gnomAD |
|
|
VAR_019225 rs11571150 CA6243686 |
444 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs11571150 CA6243687 |
444 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773257286 CA6243684 |
445 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243682 rs747957025 |
447 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA6243681 rs372127017 |
448 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369471546 CA382484119 |
449 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs369471546 CA228195628 |
449 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6243680 rs369471546 |
449 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs746718938 CA6243679 |
451 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746718938 CA382484108 |
451 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591438494 CA382484101 |
453 | S>P | No |
ClinGen Ensembl |
|
|
CA6243676 rs749898173 |
455 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs764669498 CA6243675 |
456 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1022050429 CA382484075 |
457 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA228195627 rs1022050429 |
457 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA228195626 rs1012024897 |
458 | L>V | No |
ClinGen TOPMed |
|
|
CA6243671 rs759862685 |
459 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767827820 CA6243672 |
459 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382484062 rs1337041517 |
460 | C>G | No |
ClinGen TOPMed |
|
|
rs774680853 CA6243670 |
461 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766495477 CA6243669 |
461 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA382484051 rs1308036853 |
462 | L>M | No |
ClinGen TOPMed |
|
|
CA6243667 rs773095767 |
463 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1377009232 CA382484033 |
464 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA382484029 rs1171387034 |
465 | A>S | No |
ClinGen gnomAD |
|
|
CA382484015 rs1408126866 |
467 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA382484012 rs1178425646 |
467 | G>V | No |
ClinGen gnomAD |
|
|
CA382484007 rs1344841354 |
468 | A>G | No |
ClinGen TOPMed |
|
|
rs776682263 CA6243664 |
470 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776682263 CA382483996 |
470 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907410956 CA228195623 |
470 | P>S | No |
ClinGen TOPMed |
|
|
CA382483986 rs1189182333 |
472 | Q>E | No |
ClinGen gnomAD |
|
|
rs1486873665 CA382483984 |
472 | Q>L | No |
ClinGen gnomAD |
|
|
rs1210494568 CA382483978 |
473 | G>R | No |
ClinGen gnomAD |
|
|
rs1210494568 CA382483979 |
473 | G>S | No |
ClinGen gnomAD |
|
|
CA228195621 rs940858927 |
474 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1175212985 CA382483961 |
475 | F>L | No |
ClinGen TOPMed |
|
|
rs1222157398 CA382483944 |
478 | P>R | No |
ClinGen gnomAD |
|
|
rs1286503373 CA382483948 |
478 | P>T | No |
ClinGen gnomAD |
|
|
CA6243661 rs779825187 |
480 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382483928 rs1398596383 |
481 | K>Q | No |
ClinGen TOPMed |
|
|
CA228195620 rs1049123163 |
482 | A>T | No |
ClinGen TOPMed |
|
|
CA228195619 rs932041300 |
483 | P>R | No |
ClinGen TOPMed |
|
|
CA6243660 rs757924260 |
484 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231656969 CA382483896 |
486 | S>N | No |
ClinGen TOPMed |
|
|
rs778346200 CA6243658 |
487 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966448999 CA228195617 |
489 | L>R | No |
ClinGen TOPMed |
|
|
CA6243657 rs756644416 |
491 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228195615 rs756644416 |
491 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243656 rs753242711 |
492 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753242711 CA382483862 |
492 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382483853 rs767987713 |
494 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243655 rs767987713 |
494 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767987713 CA382483852 |
494 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382483849 rs1476458706 |
494 | G>V | No |
ClinGen gnomAD |
|
|
rs1397519079 CA382483840 |
496 | P>L | No |
ClinGen TOPMed |
|
|
CA382483836 rs1462647803 |
497 | S>A | No |
ClinGen TOPMed |
|
|
CA228195612 rs1012099570 |
497 | S>F | No |
ClinGen TOPMed |
|
|
rs571158367 CA228195611 |
498 | T>P | No |
ClinGen 1000Genomes |
|
|
CA382483824 rs1255934976 |
499 | S>F | No |
ClinGen gnomAD |
|
|
CA382483817 rs1486367091 |
500 | A>G | No |
ClinGen gnomAD |
|
|
rs900902396 CA228195609 |
501 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs900902396 CA382483811 |
501 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA382483814 rs1218584305 |
501 | S>P | No |
ClinGen TOPMed |
|
|
CA382483802 rs1487662655 |
503 | A>D | No |
ClinGen TOPMed |
|
|
rs1034768032 CA382483804 |
503 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA382483803 rs1034768032 |
503 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1034768032 CA228195608 |
503 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1207837402 CA382483787 |
506 | G>R | No |
ClinGen TOPMed |
|
|
CA382483779 rs1478074070 |
507 | A>P | No |
ClinGen TOPMed |
|
|
CA228195607 rs1003174687 |
508 | A>V | No |
ClinGen TOPMed |
|
|
rs1213860302 CA382483769 |
509 | P>A | No |
ClinGen gnomAD |
|
|
CA382483762 rs1565372300 |
510 | A>E | No |
ClinGen Ensembl |
|
|
rs1041222691 CA228195606 |
510 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs755391672 CA6243652 |
512 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755391672 CA382483753 |
512 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227545134 CA382483737 |
514 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA382483733 rs766624974 |
515 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766624974 CA6243650 |
515 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382483727 rs1344139364 |
516 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA228195605 rs1005577108 |
516 | G>D | No |
ClinGen TOPMed |
|
|
rs1344139364 CA382483728 |
516 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA382483723 rs1463531945 |
517 | L>F | No |
ClinGen gnomAD |
|
|
rs773360176 CA6243648 |
518 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241465019 CA382483708 |
519 | G>E | No |
ClinGen TOPMed |
|
|
rs1241465019 CA382483706 |
519 | G>V | No |
ClinGen TOPMed |
|
|
rs765451450 CA6243647 |
524 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA228195603 rs563794209 |
525 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228195604 rs888043891 |
525 | Y>C | No |
ClinGen TOPMed |
|
|
rs1253782670 CA382483658 |
527 | A>S | No |
ClinGen gnomAD |
|
|
CA6243645 rs534426691 |
528 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1467146506 CA382483650 |
528 | A>V | No |
ClinGen gnomAD |
|
|
rs1591437994 CA382483647 |
529 | V>A | No |
ClinGen Ensembl |
|
|
VAR_019226 rs11571151 CA228195601 |
529 | V>L | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs11571151 CA228195602 |
529 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs926240164 CA228195600 |
530 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA382483630 rs1297421643 |
532 | E>* | No |
ClinGen gnomAD |
|
|
CA6243642 rs775092033 |
534 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA382483608 rs1442474199 |
535 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382483610 rs1442474199 |
535 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs11571152 RCV000889694 CA6243641 VAR_019227 |
536 | Q>P | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA382483600 rs1293482599 |
537 | V>I | No |
ClinGen gnomAD |
|
|
CA382483589 rs1462925567 |
538 | Y>C | No |
ClinGen gnomAD |
|
|
CA6243640 rs745472229 |
539 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA382483584 rs1356687066 |
539 | P>S | No |
ClinGen gnomAD |
|
|
CA6243638 rs770477966 |
540 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6243637 rs548792381 |
541 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1452692847 CA382483567 |
542 | L>F | No |
ClinGen gnomAD |
|
|
rs755371333 CA6243635 |
543 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382483547 rs1252920750 |
545 | L>M | No |
ClinGen gnomAD |
|
|
CA382483546 rs1296054222 |
545 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs774046825 CA6243621 |
547 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA382483522 rs774046825 |
547 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs748798054 CA6243619 |
548 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748798054 CA6243620 |
548 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382483482 rs777204925 |
552 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA382483471 rs1425855537 |
554 | S>G | No |
ClinGen gnomAD |
|
|
rs374220674 CA228195449 |
554 | S>I | No |
ClinGen Ensembl |
|
|
CA6243616 rs571702063 |
557 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780592722 CA6243615 |
560 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA228195448 rs571790430 |
560 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA382483416 rs1472206463 |
561 | S>L | No |
ClinGen gnomAD |
|
|
CA6243612 rs750816206 |
563 | P>R | No |
ClinGen ExAC |
|
|
rs1484535590 CA382483383 |
566 | I>T | No |
ClinGen gnomAD |
|
|
CA6243611 rs779285650 |
574 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA382483310 rs1195392507 |
577 | C>R | No |
ClinGen gnomAD |
|
|
CA6243610 rs757498161 |
577 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6243609 rs753995453 |
579 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs144880156 CA228195445 |
582 | L>F | No |
ClinGen ESP |
|
|
rs1228359128 CA382483271 |
583 | T>A | No |
ClinGen gnomAD |
|
|
rs764040334 CA6243608 |
587 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA228195444 rs780349746 |
590 | F>L | No |
ClinGen Ensembl |
|
|
CA6243594 rs201384017 |
599 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382482595 rs1271108796 |
599 | H>Y | No |
ClinGen gnomAD |
|
|
rs1375607166 CA382482586 |
600 | N>S | No |
ClinGen Ensembl |
|
|
CA6243593 rs746252081 |
606 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1396735489 CA382482541 |
607 | N>D | No |
ClinGen gnomAD |
|
|
rs749564230 CA6243590 |
611 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382482491 rs1168273340 |
613 | K>N | No |
ClinGen gnomAD |
|
|
rs778032418 CA6243589 |
615 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs778032418 CA382482478 |
615 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs752817186 CA6243587 |
623 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs767360879 CA6243586 |
623 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs2020874 VAR_014627 CA228191687 |
625 | R>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA382482379 rs534608595 |
629 | Q>H | No |
ClinGen Ensembl |
|
|
rs1197426679 CA382482381 |
629 | Q>R | No |
ClinGen gnomAD |
|
|
CA382482375 rs1451533312 |
630 | A>S | No |
ClinGen gnomAD |
|
|
rs1274221616 CA382482340 |
635 | G>E | No |
ClinGen gnomAD |
|
|
CA382437397 rs1235949481 |
636 | G>D | No |
ClinGen gnomAD |
|
|
rs1209629034 CA382437395 |
637 | R>* | No |
ClinGen gnomAD |
|
|
rs766277966 CA6243561 |
637 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382437376 rs1286393736 |
639 | F>S | No |
ClinGen gnomAD |
|
|
CA382437367 rs1230225508 |
640 | K>* | No |
ClinGen gnomAD |
|
|
rs970530941 CA227536487 |
640 | K>T | No |
ClinGen Ensembl |
|
|
CA382437349 rs1326978986 |
641 | K>N | No |
ClinGen gnomAD |
|
|
CA382437340 rs1287589157 |
642 | F>S | No |
ClinGen gnomAD |
|
|
CA6243559 rs750168894 |
643 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA382437328 rs1565339096 |
643 | N>S | No |
ClinGen Ensembl |
|
|
CA6243558 rs764814845 |
644 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6243557 rs761481882 |
644 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs753321148 CA6243556 |
646 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1319707871 CA382437259 |
650 | A>P | No |
ClinGen gnomAD |
|
|
RCV000893467 VAR_019228 CA6243554 rs11571222 |
651 | L>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1412009044 CA382437216 |
654 | V>I | No |
ClinGen gnomAD |
|
|
CA227536396 rs772627575 |
655 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA382437197 rs1282922655 |
656 | L>F | No |
ClinGen TOPMed |
|
|
CA382437194 rs1591381326 |
656 | L>P | No |
ClinGen Ensembl |
|
|
CA382437175 rs1565339048 |
658 | Q>R | No |
ClinGen Ensembl |
|
|
CA382437155 rs1042838 |
660 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6243550 VAR_016118 rs1042838 |
660 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs141743518 CA6243549 |
661 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6243547 rs150584881 |
662 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6243546 rs768769081 |
663 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6243545 rs747090634 |
664 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779973596 CA6243544 |
665 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA382437103 rs779973596 |
665 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1050425959 CA227536299 |
667 | Q>H | No |
ClinGen TOPMed |
|
|
CA6243543 rs141772024 |
668 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479245530 CA382437028 |
672 | R>K | No |
ClinGen TOPMed |
|
|
CA382437008 rs1327187778 |
674 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs778729454 CA6243541 |
675 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1348573263 CA382436983 |
676 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6243540 rs372100726 |
678 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753578328 CA6243539 |
678 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421928346 CA382436954 |
679 | Q>P | No |
ClinGen gnomAD |
|
|
rs1393470993 CA382436923 |
681 | I>M | No |
ClinGen TOPMed |
|
|
rs1448966048 CA382436932 |
681 | I>V | No |
ClinGen gnomAD |
|
|
CA6243536 rs111810948 |
682 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6243535 rs767006543 |
685 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6243532 rs770230067 |
689 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6243533 rs773476472 |
689 | N>S | No |
ClinGen ExAC |
|
|
rs143150313 CA227536198 |
692 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6243531 rs139135773 |
693 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6243530 rs566511001 |
693 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1565338899 CA382436812 |
696 | P>S | No |
ClinGen Ensembl |
|
|
CA382436783 rs1361499412 |
700 | Y>C | No |
ClinGen TOPMed |
|
|
rs868617402 CA227536166 |
701 | A>V | No |
ClinGen Ensembl |
|
|
rs747107280 CA6243528 |
703 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382436766 rs1222662053 |
703 | H>Y | No |
ClinGen TOPMed |
|
|
CA227536152 rs146822380 |
706 | T>R | No |
ClinGen ESP |
|
|
rs780063640 CA6243527 |
707 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293387481 CA382436731 |
708 | P>S | No |
ClinGen gnomAD |
|
|
CA6243526 rs772031832 |
709 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA382436716 rs1158406606 |
710 | T>S | No |
ClinGen gnomAD |
|
|
CA6243525 rs745858449 |
711 | S>P | No |
ClinGen ExAC |
|
|
rs1167003428 CA382436697 |
713 | S>C | No |
ClinGen gnomAD |
|
|
CA382436648 rs1446822589 |
720 | Q>H | No |
ClinGen TOPMed |
|
|
CA382436649 rs1446822589 |
720 | Q>H | No |
ClinGen TOPMed |
|
|
rs1191475778 CA382436645 |
721 | L>Q | No |
ClinGen TOPMed |
|
|
CA382436636 rs1175582391 |
723 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA382436602 rs1265188514 |
727 | L>R | No |
ClinGen gnomAD |
|
|
rs373694750 CA6243520 |
731 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6243519 rs755770396 |
736 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA382436369 rs1315135533 |
740 | R>* | No |
ClinGen gnomAD |
|
|
CA6243501 rs149186732 |
740 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376371918 CA227527318 |
744 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs199796213 CA227527311 |
746 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1458837648 CA382436313 |
748 | I>V | No |
ClinGen gnomAD |
|
|
rs1156810626 CA382436294 |
751 | I>V | No |
ClinGen gnomAD |
|
|
CA6243499 rs780966000 |
757 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368811016 CA382436225 |
760 | V>M | No |
ClinGen gnomAD |
|
|
rs1205217316 CA382436166 |
768 | Y>* | No |
ClinGen gnomAD |
|
|
CA382436171 rs1254939235 |
768 | Y>H | No |
ClinGen gnomAD |
|
|
CA6243497 rs141417204 |
769 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757658864 CA6243495 |
770 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA6243496 rs765789311 |
770 | H>Y | No |
ClinGen ExAC |
|
|
CA382436150 rs1186005749 |
771 | V>I | No |
ClinGen TOPMed |
|
|
rs764486687 CA6243493 |
775 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA227527253 rs112862471 |
783 | I>M | No |
ClinGen Ensembl |
|
|
rs1165724245 CA382436050 |
786 | E>K | No |
ClinGen TOPMed |
|
|
rs371165895 CA6243468 |
788 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752995251 CA6243469 |
788 | R>W | No |
ClinGen ExAC TOPMed |
|
|
rs1274115690 CA382435562 |
798 | C>Y | No |
ClinGen gnomAD |
|
|
CA382435489 rs1317982633 |
802 | W>* | No |
ClinGen TOPMed |
|
|
CA6243465 rs200584750 |
803 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6243463 rs773336784 |
806 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA382435370 rs1591371816 |
808 | F>V | No |
ClinGen Ensembl |
|
|
rs943080261 CA227526172 |
810 | K>Q | No |
ClinGen TOPMed |
|
|
CA382435313 rs1188893848 |
811 | L>F | No |
ClinGen TOPMed |
|
|
CA382435315 rs1188893848 |
811 | L>V | No |
ClinGen TOPMed |
|
|
rs769847031 CA6243462 |
813 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1258011950 CA382435044 |
825 | L>S | No |
ClinGen TOPMed |
|
|
rs776604342 CA6243442 |
836 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA227520021 rs1000609240 |
836 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1473894794 CA382433972 |
837 | S>N | No |
ClinGen gnomAD |
|
|
rs768389545 CA6243441 |
839 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs867359856 CA227519998 |
843 | E>* | No |
ClinGen Ensembl |
|
|
rs144254250 CA6243440 |
847 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779162583 CA227519965 |
849 | I>S | No |
ClinGen Ensembl |
|
|
CA6243437 rs745397774 |
854 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA382433847 rs1201529063 |
854 | K>N | No |
ClinGen gnomAD |
|
|
CA227519934 rs933148035 |
855 | A>T | No |
ClinGen TOPMed |
|
|
rs1228592262 CA382433836 |
856 | I>T | No |
ClinGen gnomAD |
|
|
rs778343881 CA6243436 |
859 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1416475986 CA382433798 |
862 | G>R | No |
ClinGen TOPMed |
|
|
rs1456079929 CA382433784 |
864 | V>L | No |
ClinGen gnomAD |
|
|
CA6243432 rs2020880 VAR_014628 |
865 | S>L | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780426100 CA6243430 |
866 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867171703 CA227519889 |
868 | Q>R | No |
ClinGen Ensembl |
|
|
rs1181450031 CA382433753 |
869 | R>C | No |
ClinGen gnomAD |
|
|
rs1450222910 CA382433752 |
869 | R>H | No |
ClinGen gnomAD |
|
|
CA382433728 rs1190509569 |
872 | Q>R | No |
ClinGen gnomAD |
|
|
CA6243428 rs750565074 |
875 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1415881235 CA382433699 |
877 | L>V | No |
ClinGen TOPMed |
|
|
CA382433682 rs1241393280 |
879 | N>S | No |
ClinGen gnomAD |
|
|
rs547620959 CA6243427 |
882 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs998625098 CA227517640 |
885 | K>R | No |
ClinGen Ensembl |
|
|
rs1391929774 CA382433614 |
887 | L>P | No |
ClinGen gnomAD |
|
|
CA382433601 rs1244731916 |
889 | L>Q | No |
ClinGen gnomAD |
|
|
CA382433574 rs1483170654 |
893 | N>D | No |
ClinGen gnomAD |
|
|
rs746145332 CA6243410 |
894 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6243409 rs779269246 |
896 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757347239 CA6243408 |
899 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221406079 CA382433529 |
900 | A>P | No |
ClinGen gnomAD |
|
|
rs753889195 CA6243407 |
902 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA382433514 rs1472322408 |
902 | S>R | No |
ClinGen gnomAD |
|
|
rs1410764660 CA382433506 |
904 | E>* | No |
ClinGen gnomAD |
|
|
CA227517580 rs111886932 |
905 | F>L | No |
ClinGen Ensembl |
|
|
CA6243406 rs763952401 |
907 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756031764 CA6243405 |
908 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs865856373 CA227517542 |
911 | E>D | No |
ClinGen Ensembl |
|
|
rs1176750638 CA382433435 |
914 | A>T | No |
ClinGen gnomAD |
|
|
rs1237722462 CA382433423 |
916 | Q>K | No |
ClinGen gnomAD |
|
|
CA382433345 rs1565326353 |
923 | G>E | No |
ClinGen Ensembl |
|
|
CA382433334 rs1591363991 |
924 | M>R | No |
ClinGen Ensembl |
|
|
CA6243402 rs759300701 |
924 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs766015591 CA6243400 |
925 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6243401 rs774044786 |
925 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770343099 CA227517464 |
926 | K>N | No |
ClinGen TOPMed |
|
|
CA6243397 rs769064153 |
927 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772718952 CA6243398 |
927 | P>T | No |
ClinGen ExAC |
|
|
rs1310973253 CA382433240 |
932 | K>E | No |
ClinGen gnomAD |
|
|
rs1158730512 CA382433217 |
933 | K>N | No |
ClinGen TOPMed |
No associated diseases with P06401
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR48092 | KNIRPS-RELATED PROTEIN-RELATED |
| PANTHER Subfamily | PTHR48092:SF6 | PROGESTERONE RECEPTOR |
| PANTHER Protein Class |
C4 zinc finger nuclear receptor
zinc finger transcription factor |
|
| PANTHER Pathway Category |
Gonadotropin-releasing hormone receptor pathway PR |
|
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
13 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| identical protein binding | Binding to an identical protein or proteins. |
| nuclear receptor activity | A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
| steroid binding | Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene. |
| steroid hormone receptor activity | Combining with a steroid hormone and transmitting the signal within the cell to initiate a change in cell activity or function. |
| transcription coactivator binding | Binding to a transcription coactivator, a protein involved in positive regulation of transcription via protein-protein interactions with transcription factors and other proteins that positively regulate transcription. Transcription coactivators do not bind DNA directly, but rather mediate protein-protein interactions between activating transcription factors and the basal transcription machinery. |
| zinc ion binding | Binding to a zinc ion (Zn). |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| cell-cell signaling | Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. |
| epithelial cell maturation | The developmental process, independent of morphogenetic (shape) change, that is required for an epithelial cell to attain its fully functional state. An epithelial cell is a cell usually found in a two-dimensional sheet with a free surface. |
| intracellular steroid hormone receptor signaling pathway | The series of molecular signals initiated by a steroid binding to an intracellular steroid hormone receptor. |
| lung alveolus development | The process whose specific outcome is the progression of the alveolus over time, from its formation to the mature structure. The alveolus is a sac for holding air in the lungs; formed by the terminal dilation of air passageways. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| ovulation from ovarian follicle | The process leading to the rupture of the follicle, releasing the centrally located oocyte into the oviduct. An example of this is found in Mus musculus. |
| paracrine signaling | The transfer of information from one cell to another, where the signal travels from the signal-producing cell to the receiving cell by passive diffusion or bulk flow in intercellular fluid. The signaling cell and the receiving cell are usually in the vicinity of each other. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| progesterone receptor signaling pathway | The series of molecular signals initiated by progesterone binding to its receptor in the cytoplasm. |
| regulation of epithelial cell proliferation | Any process that modulates the frequency, rate or extent of epithelial cell proliferation. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| tertiary branching involved in mammary gland duct morphogenesis | The branching process in which the mammary gland ducts form tertiary branches off of the secondary branches as part of diestrus and pregnancy. |
29 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9TTR7 | NR2F2 | COUP transcription factor 2 | Bos taurus (Bovine) | PR |
| O18971 | PPARG | Peroxisome proliferator-activated receptor gamma | Bos taurus (Bovine) | PR |
| Q90733 | NR2F2 | COUP transcription factor 2 | Gallus gallus (Chicken) | PR |
| P68306 | THRB | Thyroid hormone receptor beta | Gallus gallus (Chicken) | PR |
| A7X8B3 | PGR | Progesterone receptor | Pan troglodytes (Chimpanzee) | SS |
| Q9GLW0 | PGR | Progesterone receptor | Canis lupus familiaris (Dog) (Canis familiaris) | SS |
| P37231 | PPARG | Peroxisome proliferator-activated receptor gamma | Homo sapiens (Human) | PR |
| P10588 | NR2F6 | Nuclear receptor subfamily 2 group F member 6 | Homo sapiens (Human) | PR |
| P10589 | NR2F1 | COUP transcription factor 1 | Homo sapiens (Human) | PR |
| O75469 | NR1I2 | Nuclear receptor subfamily 1 group I member 2 | Homo sapiens (Human) | PR |
| P24468 | NR2F2 | COUP transcription factor 2 | Homo sapiens (Human) | PR |
| P49116 | NR2C2 | Nuclear receptor subfamily 2 group C member 2 | Homo sapiens (Human) | PR |
| P35396 | Ppard | Peroxisome proliferator-activated receptor delta | Mus musculus (Mouse) | PR |
| P43136 | Nr2f6 | Nuclear receptor subfamily 2 group F member 6 | Mus musculus (Mouse) | PR |
| P43135 | Nr2f2 | COUP transcription factor 2 | Mus musculus (Mouse) | PR |
| Q9Z0Y9 | Nr1h3 | Oxysterols receptor LXR-alpha | Mus musculus (Mouse) | PR |
| Q00175 | Pgr | Progesterone receptor | Mus musculus (Mouse) | SS |
| O62807 | PPARG | Peroxisome proliferator-activated receptor gamma | Sus scrofa (Pig) | PR |
| O09018 | Nr2f2 | COUP transcription factor 2 | Rattus norvegicus (Rat) | PR |
| Q63449 | Pgr | Progesterone receptor | Rattus norvegicus (Rat) | SS |
| Q8SQ01 | NR1I2 | Nuclear receptor subfamily 1 group I member 2 | Macaca mulatta (Rhesus macaque) | PR |
| G5EFF5 | daf-12 | Nuclear hormone receptor family member daf-12 | Caenorhabditis elegans | PR |
| O45460 | nhr-54 | Nuclear hormone receptor family member nhr-54 | Caenorhabditis elegans | PR |
| Q20765 | nhr-7 | Nuclear hormone receptor family member nhr-7 | Caenorhabditis elegans | PR |
| Q21006 | nhr-34 | Nuclear hormone receptor family member nhr-34 | Caenorhabditis elegans | PR |
| O17928 | nhr-52 | Nuclear hormone receptor family member nhr-52 | Caenorhabditis elegans | PR |
| Q21878 | nhr-1 | Nuclear hormone receptor family member nhr-1 | Caenorhabditis elegans | PR |
| O18141 | nhr-79 | Nuclear hormone receptor family member nhr-79 | Caenorhabditis elegans | PR |
| Q6PH18 | nr2f1b | Nuclear receptor subfamily 2 group F member 1-B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTELKAKGPR | APHVAGGPPS | PEVGSPLLCR | PAAGPFPGSQ | TSDTLPEVSA | IPISLDGLLF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PRPCQGQDPS | DEKTQDQQSL | SDVEGAYSRA | EATRGAGGSS | SSPPEKDSGL | LDSVLDTLLA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PSGPGQSQPS | PPACEVTSSW | CLFGPELPED | PPAAPATQRV | LSPLMSRSGC | KVGDSSGTAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AHKVLPRGLS | PARQLLLPAS | ESPHWSGAPV | KPSPQAAAVE | VEEEDGSESE | ESAGPLLKGK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PRALGGAAAG | GGAAAVPPGA | AAGGVALVPK | EDSRFSAPRV | ALVEQDAPMA | PGRSPLATTV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MDFIHVPILP | LNHALLAART | RQLLEDESYD | GGAGAASAFA | PPRSSPCASS | TPVAVGDFPD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CAYPPDAEPK | DDAYPLYSDF | QPPALKIKEE | EEGAEASARS | PRSYLVAGAN | PAAFPDFPLG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PPPPLPPRAT | PSRPGEAAVT | AAPASASVSS | ASSSGSTLEC | ILYKAEGAPP | QQGPFAPPPC |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KAPGASGCLL | PRDGLPSTSA | SAAAAGAAPA | LYPALGLNGL | PQLGYQAAVL | KEGLPQVYPP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YLNYLRPDSE | ASQSPQYSFE | SLPQKICLIC | GDEASGCHYG | VLTCGSCKVF | FKRAMEGQHN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YLCAGRNDCI | VDKIRRKNCP | ACRLRKCCQA | GMVLGGRKFK | KFNKVRVVRA | LDAVALPQPV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GVPNESQALS | QRFTFSPGQD | IQLIPPLINL | LMSIEPDVIY | AGHDNTKPDT | SSSLLTSLNQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LGERQLLSVV | KWSKSLPGFR | NLHIDDQITL | IQYSWMSLMV | FGLGWRSYKH | VSGQMLYFAP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DLILNEQRMK | ESSFYSLCLT | MWQIPQEFVK | LQVSQEEFLC | MKVLLLLNTI | PLEGLRSQTQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FEEMRSSYIR | ELIKAIGLRQ | KGVVSSSQRF | YQLTKLLDNL | HDLVKQLHLY | CLNTFIQSRA |
| 910 | 920 | 930 | |||
| LSVEFPEMMS | EVIAAQLPKI | LAGMVKPLLF | HKK |