Q96HM7
PR
Gene name |
PCED1B |
Protein name |
PC-esterase domain-containing protein 1B |
Names |
Protein FAM113B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91523 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q96HM7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96HM7-F1 | Predicted | AlphaFoldDB |
410 variants for Q96HM7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1022815922 CA236458404 |
2 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs572314156 CA6529811 |
2 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1183340924 CA384501744 |
3 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775305656 CA6529813 |
4 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149681795 CA6529814 |
6 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751172437 CA384501768 |
7 | S>C | No |
ClinGen ExAC TOPMed |
|
|
rs751172437 CA6529815 |
7 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA384501764 rs1476109425 |
7 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs767909620 CA6529817 |
8 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384501776 rs1592333302 |
9 | V>M | No |
ClinGen Ensembl |
|
|
rs145480761 CA6529819 |
10 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750880842 CA6529818 |
10 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1592333332 CA384501794 |
12 | L>V | No |
ClinGen Ensembl |
|
|
CA384501811 rs1385247538 CA384501810 |
14 | H>Q | No |
ClinGen gnomAD |
|
|
CA6529824 rs748248424 |
18 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs755246150 CA6529822 |
18 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6529823 rs755246150 |
18 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA384501844 rs1592333401 |
19 | V>G | No |
ClinGen Ensembl |
|
|
CA384501846 rs1273434301 |
20 | I>F | No |
ClinGen TOPMed |
|
|
CA384501855 rs1247172092 |
21 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207489338 CA384501859 |
22 | G>R | No |
ClinGen TOPMed |
|
|
CA236458443 rs543197764 |
23 | D>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
CA236458466 rs374307961 |
25 | V>M | No |
ClinGen ESP TOPMed |
|
|
rs908578266 CA236458477 |
26 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA384501885 COSM693857 rs1366611952 |
26 | H>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 26 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6529828 rs143928273 |
28 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384501896 rs1438976825 |
28 | A>P | No |
ClinGen TOPMed |
|
|
rs759629524 CA236458511 |
29 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 30 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565619377 CA384501952 |
35 | L>I | No |
ClinGen Ensembl |
|
|
CA6529834 rs761239238 |
36 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446087559 CA384501987 |
37 | L>R | No |
ClinGen gnomAD |
|
|
CA384501980 rs1401182324 |
37 | L>V | No |
ClinGen gnomAD |
|
|
rs975928733 CA236458551 |
38 | Q>E | No |
ClinGen TOPMed |
|
|
CA6529835 rs750922192 |
39 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs761281915 CA6529836 |
39 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766852475 CA384502049 |
41 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6529837 rs766852475 |
41 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs921503949 CA384502051 |
41 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA236458558 rs921503949 |
41 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA384502108 rs1409703690 |
44 | T>I | No |
ClinGen Ensembl |
|
|
rs754261820 CA6529838 |
45 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1320251003 CA384502111 |
45 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384502129 rs1253186423 |
46 | G>E | No |
ClinGen TOPMed |
|
|
rs755336030 CA236458569 |
46 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6529839 rs755336030 |
46 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368235915 CA6529841 |
50 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1484588209 CA384502205 |
50 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 51 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384502223 CA6529843 rs146872990 |
51 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384502227 rs1592333790 |
52 | G>W | No |
ClinGen Ensembl |
|
|
rs1430056202 CA384502256 |
53 | E>V | No |
ClinGen gnomAD |
|
|
CA6529846 COSM1562095 rs768597323 |
57 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs749098670 CA6529847 |
58 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs768503264 CA6529848 |
60 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773893395 CA6529849 |
63 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs747793369 CA6529850 |
66 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA384502457 rs1359939330 |
66 | Q>R | No |
ClinGen TOPMed |
|
|
CA6529852 rs772829479 |
67 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771590553 CA6529851 |
67 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6529854 rs766942408 |
68 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1454381820 CA384502488 |
68 | G>V | No |
ClinGen TOPMed |
|
|
rs1339459662 CA384502520 |
70 | M>R | No |
ClinGen gnomAD |
|
|
CA384502566 rs370732880 CA384502569 |
72 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6529857 COSM291682 rs765538621 |
73 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs912319420 CA384502614 |
77 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6529860 COSM939653 rs758688577 |
77 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs758688577 CA384502616 |
77 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA236458745 rs912319420 |
77 | R>S | No |
ClinGen gnomAD |
|
|
CA6529861 rs764206411 |
79 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751726248 CA6529862 |
80 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs757338870 CA6529863 |
81 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 81 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6529864 rs780154237 COSM1705503 |
83 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 83 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384502653 rs1176026285 |
83 | R>P | No |
ClinGen gnomAD |
|
|
CA6529865 rs749183962 |
84 | S>A | No |
ClinGen ExAC TOPMed |
|
|
rs551816468 CA236458849 |
85 | D>E | No |
ClinGen gnomAD |
|
|
rs892826019 CA236458842 |
85 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs892826019 CA236458844 |
85 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6529867 rs778805102 |
87 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284776622 CA384503798 |
88 | L>M | No |
ClinGen gnomAD |
|
|
CA6529868 rs747871829 |
88 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6529869 rs771817985 |
89 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318675096 CA384503884 |
92 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA236458863 rs999112969 |
92 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6529870 rs772738434 |
94 | L>H | No |
ClinGen ExAC |
|
|
CA236458870 rs1011182869 |
96 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1487158155 CA384503962 |
97 | V>A | No |
ClinGen gnomAD |
|
|
rs746531028 CA6529872 |
97 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs746531028 CA6529871 |
97 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6529874 rs759999715 |
98 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384503990 rs1417210762 |
99 | S>T | No |
ClinGen TOPMed |
|
|
CA236458904 rs375168756 |
103 | Q>H | No |
ClinGen ESP TOPMed |
|
|
CA6529877 rs763219961 |
103 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 106 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751770005 CA6529879 |
106 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs762006377 CA6529880 |
108 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144422351 CA6529881 |
108 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415088921 CA384504179 |
110 | Q>E | No |
ClinGen TOPMed |
|
|
CA384504181 rs1435238450 |
110 | Q>P | No |
ClinGen gnomAD |
|
|
rs146595577 CA6529884 |
111 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189968434 CA384504186 |
111 | S>T | No |
ClinGen TOPMed |
|
|
rs200053349 CA6529886 |
112 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384504201 rs1351288152 |
113 | E>D | No |
ClinGen gnomAD |
|
|
rs777495681 CA6529887 |
113 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746619238 CA6529888 |
114 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs531154720 CA6529889 |
115 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780724126 CA6529890 |
116 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1334221196 CA384504249 |
117 | D>Y | No |
ClinGen TOPMed |
|
|
CA6529892 rs745362947 |
118 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1459128652 CA384504282 |
119 | V>A | No |
ClinGen gnomAD |
|
|
rs775791437 CA6529894 |
120 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA6529896 rs768849705 |
120 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6529895 rs201274870 |
120 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868095731 CA236458998 |
121 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1592334461 CA384504320 |
121 | M>R | No |
ClinGen Ensembl |
|
|
CA384504380 rs1328788509 |
125 | L>F | No |
ClinGen TOPMed |
|
|
rs748047219 CA6529897 |
126 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236459004 rs748047219 |
126 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762165694 CA6529898 |
127 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA384504431 rs1355823682 |
130 | R>S | No |
ClinGen gnomAD |
|
|
CA236459022 rs908743139 |
132 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384504499 rs1298372817 |
134 | N>K | No |
ClinGen TOPMed |
|
|
rs750587273 CA6529901 |
135 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA384504529 rs1454443460 |
136 | W>* | No |
ClinGen gnomAD |
|
|
CA236459025 rs974042346 |
136 | W>C | No |
ClinGen Ensembl |
|
|
CA6529905 rs765226556 |
140 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs752520049 CA6529906 |
141 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 144 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 144 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs954402804 CA236459055 |
144 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 146 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777395172 CA6529908 |
147 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA6529909 rs751328411 |
148 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6529910 rs756956363 |
149 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA6529912 rs745383672 |
152 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA384504802 rs1472664215 |
153 | V>M | No |
ClinGen gnomAD |
|
|
CA384504847 rs1251031150 |
156 | E>A | No |
ClinGen TOPMed |
|
|
rs780629741 CA6529914 |
156 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384504903 rs1196586587 |
158 | C>S | No |
ClinGen TOPMed |
|
|
CA6529917 rs774904336 |
159 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1334712777 CA384504937 |
160 | L>V | No |
ClinGen gnomAD |
|
|
CA236459113 rs988547226 |
163 | N>H | No |
ClinGen Ensembl |
|
| TCGA novel | 164 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6529918 rs762253552 |
164 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1339693639 CA384505032 |
164 | T>S | No |
ClinGen gnomAD |
|
|
rs773502444 CA6529920 |
166 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA384505102 rs1257541100 |
167 | P>T | No |
ClinGen gnomAD |
|
|
rs760822935 CA6529921 |
168 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1202756750 CA384505148 |
169 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384505185 rs1337890960 |
170 | E>G | No |
ClinGen TOPMed |
|
|
rs775533441 CA6529923 |
170 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185854437 CA384505204 |
171 | E>A | No |
ClinGen gnomAD |
|
|
rs1308243690 CA384505242 |
172 | V>G | No |
ClinGen TOPMed |
|
|
CA6529924 rs762841883 |
173 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs772171223 CA236459151 |
173 | T>S | No |
ClinGen Ensembl |
|
|
CA6529927 rs751416285 CA384505269 |
174 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751416285 CA6529926 |
174 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548965363 CA6529931 |
175 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs548965363 CA6529930 |
175 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384505363 rs1156718088 |
178 | P>L | No |
ClinGen TOPMed |
|
|
CA6529934 rs779556684 |
179 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs934461789 CA236459227 |
180 | K>R | No |
ClinGen TOPMed |
|
|
rs1360888377 CA384505408 |
181 | L>P | No |
ClinGen gnomAD |
|
|
CA6529936 rs148925320 |
182 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1592335041 CA384505421 |
182 | R>P | No |
ClinGen Ensembl |
|
|
rs148925320 CA6529935 |
182 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA384505425 rs1338570765 |
183 | R>W | No |
ClinGen gnomAD |
|
|
CA384505435 rs147027497 |
184 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147027497 CA6529937 |
184 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6529939 rs771157882 |
186 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs759651168 CA6529941 |
187 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6529940 rs776626698 |
187 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774214450 CA384505690 |
191 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA236459279 rs867481954 |
192 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1434458835 CA384505725 |
194 | V>A | No |
ClinGen gnomAD |
|
|
rs761616252 CA6529944 |
198 | F>L | No |
ClinGen ExAC |
|
|
CA6529945 rs767257160 |
200 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs750197613 CA6529946 COSM3416877 |
201 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA384505855 rs1160335851 |
203 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA384505853 rs1160335851 |
203 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA384505861 rs1383415234 |
203 | E>V | No |
ClinGen TOPMed |
|
|
CA6529948 rs766039731 |
204 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6529949 rs753354029 |
205 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs754473510 CA6529950 |
205 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 206 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194551020 CA384505911 |
208 | N>D | No |
ClinGen gnomAD |
|
|
rs369010994 CA6529952 |
210 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1231763652 CA384505955 |
211 | V>L | No |
ClinGen gnomAD |
|
|
CA384506037 rs1312054453 |
217 | H>L | No |
ClinGen gnomAD |
|
|
rs1354949925 CA384506059 |
219 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1284248873 CA384506088 |
221 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA384506091 rs1284248873 |
221 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6529956 rs771120281 |
227 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776910151 CA6529958 |
229 | G>A | No |
ClinGen ExAC |
|
| TCGA novel | 229 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384506208 rs1156632276 |
230 | V>A | No |
ClinGen gnomAD |
|
|
CA384506204 rs1438922183 |
230 | V>M | No |
ClinGen gnomAD |
|
|
rs1565620855 CA384506214 |
231 | H>N | No |
ClinGen Ensembl |
|
|
CA384506218 rs1338264127 |
231 | H>P | No |
ClinGen TOPMed |
|
|
rs1369915932 CA384506225 |
231 | H>Q | No |
ClinGen gnomAD |
|
|
CA6529959 rs745945774 CA384506228 |
232 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1164025010 CA384506260 |
234 | G>E | No |
ClinGen gnomAD |
|
|
rs1390155299 CA384506269 |
235 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6529960 rs769813694 |
235 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384506276 rs1334014080 |
236 | V>M | No |
ClinGen gnomAD |
|
|
rs774300313 CA6529961 |
237 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6529962 rs200395874 |
238 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6529964 rs200395874 |
238 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200395874 CA6529963 |
238 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1004706519 CA236459358 |
238 | R>S | No |
ClinGen Ensembl |
|
|
CA6529965 rs760513118 |
239 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs201366077 CA384506316 |
239 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201366077 CA6529966 |
239 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384506327 rs1245133165 |
240 | L>F | No |
ClinGen gnomAD |
|
|
CA384506331 rs1264463634 |
240 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 241 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6529967 rs753474996 |
242 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1457268389 CA384506362 |
243 | L>R | No |
ClinGen gnomAD |
|
|
CA384506359 rs1238195897 |
243 | L>V | No |
ClinGen gnomAD |
|
|
CA384506365 rs759140709 |
244 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759140709 CA6529968 |
244 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6529969 rs764801776 |
246 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313195013 CA384506385 |
248 | V>M | No |
ClinGen TOPMed |
|
|
rs759026254 CA6529971 |
249 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6529972 rs375543990 |
250 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384506403 rs1460019218 |
250 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6529973 rs751937708 |
251 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 252 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384506439 rs1381849665 |
252 | W>C | No |
ClinGen gnomAD |
|
|
CA6529974 rs757577666 |
252 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA236459419 rs952812970 |
254 | V>A | No |
ClinGen TOPMed |
|
|
CA384506481 rs1326238095 |
256 | L>R | No |
ClinGen gnomAD |
|
|
COSM3812080 CA384506491 rs1311640194 |
257 | P>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs746048109 CA6529976 |
258 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746048109 CA384506499 |
258 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369833192 CA6529977 |
259 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA236459451 rs771092831 |
260 | H>R | No |
ClinGen Ensembl |
|
|
rs992966611 CA236459464 |
261 | P>S | No |
ClinGen TOPMed |
|
|
rs780152953 CA384506543 |
262 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780152953 CA6529978 |
262 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6529980 rs772064186 |
264 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1437634719 CA384506635 |
266 | I>F | No |
ClinGen TOPMed |
|
|
CA6529981 rs773134675 |
266 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384506651 rs1351336534 |
267 | K>* | No |
ClinGen gnomAD |
|
|
rs536869330 CA236459494 |
270 | K>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA384506759 rs1339447516 |
270 | K>N | No |
ClinGen TOPMed |
|
|
rs1253734992 CA384506768 |
271 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1474366751 CA384506785 COSM228577 |
272 | G>D | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1424482034 CA384506793 |
273 | P>T | No |
ClinGen gnomAD |
|
|
CA384506813 rs1169043795 |
274 | R>G | No |
ClinGen gnomAD |
|
|
rs1361392467 CA384506837 |
275 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6529984 rs776179854 |
276 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA236459515 rs866434088 |
277 | G>R | No |
ClinGen Ensembl |
|
|
CA6529985 rs759303227 |
278 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759303227 CA6529986 |
278 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs988913552 CA236459526 |
279 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA236459546 rs914324520 |
286 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1339359137 CA384507112 |
286 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384507160 rs1302684875 |
287 | A>D | No |
ClinGen gnomAD |
|
|
rs1052830939 CA236459552 |
290 | L>M | No |
ClinGen TOPMed |
|
|
CA6529989 rs376253452 |
292 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254049981 CA384507282 |
293 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6529993 rs752052648 |
298 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs200700432 CA6529994 |
298 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384507367 rs752052648 |
298 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs750761520 CA384507415 |
300 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6529997 COSM1206025 rs756384960 |
300 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs756384960 CA384507419 |
300 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6529996 rs750761520 |
300 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 302 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749372856 CA6529999 |
302 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs746927101 CA6530003 |
304 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6530002 rs777595332 |
304 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530004 rs770742540 |
306 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236459591 rs770742540 |
306 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236459597 rs776617445 |
307 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6530005 rs776617445 |
307 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6530007 rs141228836 |
308 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384507560 rs1316561048 |
308 | Q>P | No |
ClinGen gnomAD |
|
|
CA384507562 rs1316561048 |
308 | Q>R | No |
ClinGen gnomAD |
|
|
rs775219066 CA384507574 |
309 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530008 rs775219066 |
309 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236459609 rs1037502389 |
311 | P>R | No |
ClinGen Ensembl |
|
|
CA6530009 rs762568579 COSM352453 |
314 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs995626055 CA236459613 |
314 | P>R | No |
ClinGen Ensembl |
|
|
rs150738847 CA6530011 |
316 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767893194 CA6530013 |
318 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6530012 rs762427769 |
318 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA384507718 rs1459903657 |
321 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 322 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6530015 rs756403397 |
323 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6530016 rs766599303 |
326 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384507796 rs1406431443 |
328 | Q>* | No |
ClinGen TOPMed |
|
|
CA384507826 rs1323875815 |
330 | M>K | No |
ClinGen gnomAD |
|
|
rs754012197 CA6530017 |
331 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA236459658 rs759220333 COSM1361764 |
332 | R>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM1299396 rs759220333 CA236459654 |
332 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA384507856 rs1308305468 |
333 | F>L | No |
ClinGen gnomAD |
|
|
CA6530018 rs755046407 |
335 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA384507894 rs1251947033 |
336 | G>S | No |
ClinGen TOPMed |
|
|
CA384507913 rs1191406819 |
337 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1322461369 CA384507946 |
340 | A>D | No |
ClinGen gnomAD |
|
|
rs139056948 CA6530019 |
340 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6530021 rs748154819 |
341 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384507957 rs748154819 |
341 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530022 rs757280610 COSM222239 |
343 | S>F | Variant assessed as Somatic; 0.0 impact. NS skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs187610959 CA384507996 |
346 | H>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs187610959 CA6530026 |
346 | H>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs769657966 CA6530025 |
346 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749007819 CA6530028 |
350 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs749007819 CA6530027 |
350 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA236459691 rs535665336 |
351 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs761223135 CA6530030 |
352 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA384508037 rs1162177835 |
352 | Q>P | No |
ClinGen gnomAD |
|
|
CA6530031 rs768072486 |
353 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 353 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368685456 CA6530033 |
354 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773649009 CA6530032 |
354 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1449934359 CA384508064 |
356 | H>R | No |
ClinGen gnomAD |
|
|
rs766691196 CA6530034 |
356 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754173521 CA6530036 |
358 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA384508075 rs1380165129 |
358 | D>H | No |
ClinGen gnomAD |
|
|
rs1240539841 CA384508092 |
360 | P>L | No |
ClinGen TOPMed |
|
|
CA6530038 rs765365140 |
361 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6530039 rs573318402 |
362 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1439042930 CA384508114 |
364 | H>Q | No |
ClinGen TOPMed |
|
|
CA6530040 rs758347631 |
364 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530041 rs781294958 |
365 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 368 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6530042 rs745754589 COSM1361767 |
368 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM3398738 CA384508142 rs992484764 |
369 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA236459743 rs992484764 |
369 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA236459754 rs267603480 COSM1746994 |
370 | E>K | Variant assessed as Somatic; impact. urinary_tract breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6530045 rs749019266 |
371 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6530046 rs768418049 |
372 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA384508181 rs1416031559 |
374 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201970972 CA6530048 |
374 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384508195 rs1334602451 |
376 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 377 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773738748 CA6530050 |
378 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771520499 CA6530049 |
378 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384508205 rs771520499 |
378 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531193288 CA6530051 |
380 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1185368253 CA384508222 |
381 | M>T | No |
ClinGen TOPMed |
|
|
rs771406055 CA6530053 |
382 | P>L | No |
ClinGen ExAC |
|
|
CA6530055 rs759818683 |
383 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384508253 rs1269610454 |
386 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA236459789 rs200331752 |
387 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA236459783 rs765504758 |
387 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765504758 CA6530056 |
387 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384508275 rs1565622026 |
388 | R>C | No |
ClinGen Ensembl |
|
|
COSM939661 CA384508278 rs1279810981 |
388 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs752806462 CA6530057 |
390 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6530058 rs763118814 |
390 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA384508330 rs375607179 |
391 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375607179 CA236459795 |
391 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA384508325 rs1565622058 |
391 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1565622106 CA384508349 |
392 | P>L | No |
ClinGen Ensembl |
|
|
CA384508341 rs1191845275 |
392 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751665541 CA6530060 |
395 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384508384 rs751665541 |
395 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384508392 rs1592337107 |
396 | V>G | No |
ClinGen Ensembl |
|
|
CA6530061 rs756174691 |
396 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530062 rs756174691 |
396 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530064 rs754671446 |
397 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6530063 rs753671267 |
397 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201223112 CA6530065 |
398 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM109668 CA236459861 rs138547957 |
399 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1377789606 CA384508476 |
401 | G>V | No |
ClinGen TOPMed |
|
|
rs1167576912 CA384508508 |
403 | Y>* | No |
ClinGen gnomAD |
|
|
rs1324713874 CA384508498 |
403 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1324713874 CA384508497 |
403 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs141120293 CA6530068 COSM106519 |
404 | R>C | Variant assessed as Somatic; 0.0 impact. NS skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6530069 rs139764765 |
404 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6530070 rs139764765 |
404 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA236459883 rs112959993 |
406 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6530071 COSM1236614 rs144499270 |
406 | R>H | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA384508551 rs144499270 |
406 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866532176 CA236459894 |
408 | P>L | No |
ClinGen Ensembl |
|
|
rs889851965 CA236459919 |
410 | T>A | No |
ClinGen Ensembl |
|
|
CA6530073 rs770009860 COSM431149 |
410 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1592337329 CA384508638 |
412 | W>G | No |
ClinGen Ensembl |
|
|
rs763311567 CA6530075 |
413 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs751753564 CA384508693 |
415 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201315028 CA6530078 |
415 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6530077 rs751753564 |
415 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384508722 rs766431910 |
417 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA384508730 rs753668115 |
417 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA384508729 rs753668115 |
417 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs753668115 CA6530080 |
417 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1305575262 CA384508732 |
418 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6530082 rs754832107 |
418 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs374835427 CA6530083 |
421 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6530084 rs752514731 |
422 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs530311372 CA236459968 |
423 | A>D | No |
ClinGen 1000Genomes |
|
|
rs758107227 CA6530085 |
423 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1036994877 CA236459969 |
424 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746529376 CA384508793 |
427 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs746529376 CA6530087 |
427 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs145379534 CA236459973 |
428 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs2543737 CA236459986 VAR_042761 |
429 | P>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA236459990 rs368596518 |
429 | P>R | No |
ClinGen ESP |
|
|
CA6530089 rs781735977 |
431 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384508894 rs1338528426 |
433 | Q>Q | No |
ClinGen gnomAD |
No associated diseases with Q96HM7
No regional properties for Q96HM7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96HM7 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MILLRASEVR | QLLHNKFVVI | LGDSVHRAVY | KDLVLLLQKD | RLLTPGQLRA | RGELNFEQDE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LVDGGQRGHM | HNGLNYREVR | EFRSDHHLVR | FYFLTRVYSD | YLQTILKELQ | SGEHAPDLVI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MNSCLWDISR | YGPNSWRSYL | ENLENLFQCL | GQVLPESCLL | VWNTAMPVGE | EVTGGFLPPK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LRRQKATFLK | NEVVKANFHS | ATEARKHNFD | VLDLHFHFRH | ARENLHWDGV | HWNGRVHRCL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SQLLLAHVAD | AWGVELPHRH | PVGEWIKKKK | PGPRVEGPPQ | ANRNHPALPL | SPPLPSPTYR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PLLGFPPQRL | PLLPLLSPQP | PPPILHHQGM | PRFPQGPPDA | CFSSDHTFQS | DQFYCHSDVP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SSAHAGFFVE | DNFMVGPQLP | MPFFPTPRYQ | RPAPVVHRGF | GRYRPRGPYT | PWGQRPRPSK |
| 430 | |||||
| RRAPANPEPR | PQ |