Q9H9D4
PR
Gene name |
ZNF408 (PFM14, PRDM17) |
Protein name |
Zinc finger protein 408 |
Names |
PR domain zinc finger protein 17 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79797 |
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 Q9H9D4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H9D4-F1 | Predicted | AlphaFoldDB |
672 variants for Q9H9D4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001203454 CA5966243 rs141693807 RCV002561128 |
43 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003166750 rs199531284 CA5966244 RCV001307386 |
44 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA275949 RCV000190409 rs796065315 |
44 | P>S | Exudative vitreoretinopathy 1 (evr1) Exudative vitreoretinopathy 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs875989821 RCV000186511 |
122 | A>missing | Retinitis pigmentosa 72 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001857599 VAR_074612 rs536561101 RCV000186510 CA204007 |
126 | S>N | Exudative vitreoretinopathy 6 EVR6; unknown pathological significance; does not affect localization to the nucleus [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001067962 CA5966353 RCV002489701 rs140201502 |
153 | L>F | Exudative vitreoretinopathy 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs796065316 RCV000190411 CA275953 |
232 | M>V | Exudative vitreoretinopathy 1 (evr1) Exudative vitreoretinopathy 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs146037342 CA5966424 RCV002553041 RCV001038186 |
248 | D>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368603073 RCV001535592 CA5966455 RCV001236111 |
309 | L>V | Exudative vitreoretinopathy 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1565695139 RCV001197448 |
315 | Q>* | Exudative vitreoretinopathy 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs966073464 RCV001003293 CA221633334 |
392 | S>P | Familial exudative vitreoretinopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001338358 RCV002547377 CA380255298 rs1231985813 |
404 | R>C | Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs373273223 RCV000186509 RCV002292482 CA204005 VAR_074613 |
455 | H>Y | Exudative vitreoretinopathy 6 EVR6; severely decreased localization to the nucleus [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002492860 RCV001073959 RCV001246705 CA204009 RCV000186512 VAR_074615 rs781192528 |
541 | R>C | Exudative vitreoretinopathy 6 Retinitis pigmentosa 72 Retinal dystrophy RP72; decreased localization to the nucleus [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001003294 rs1425566595 CA380257345 |
566 | L>H | Familial exudative vitreoretinopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001213922 CA275955 RCV000190412 rs547169524 |
617 | T>N | Exudative vitreoretinopathy 1 (evr1) Exudative vitreoretinopathy 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs138519217 RCV001349280 CA5966664 RCV002545607 |
630 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002504312 rs757827254 CA380257819 RCV001231479 |
643 | A>V | Exudative vitreoretinopathy 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001219849 rs370145518 CA5966695 RCV002563000 |
670 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs35287195 RCV001244278 RCV002568583 CA5966705 |
686 | F>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA275957 RCV000190413 rs796065317 |
715 | E>D | Exudative vitreoretinopathy 1 (evr1) Exudative vitreoretinopathy 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1313134520 RCV002015027 |
1 | M>T | No |
ClinVar dbSNP |
|
|
CA5966174 rs766529520 |
2 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1336848932 CA380251313 |
2 | E>V | No |
ClinGen TOPMed |
|
|
rs755003154 TCGA novel CA5966176 |
4 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs959527350 CA221627862 |
4 | A>T | No |
ClinGen gnomAD |
|
|
CA380251327 rs755003154 |
4 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221627865 rs562721789 |
6 | E>* | No |
ClinGen TOPMed |
|
|
rs1401128860 CA380251342 |
6 | E>D | No |
ClinGen TOPMed |
|
|
RCV001035833 rs1240113334 CA380251346 |
7 | L>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA380251359 rs1284458067 |
9 | L>F | No |
ClinGen gnomAD |
|
|
rs1565693068 RCV001049628 CA380251357 |
9 | L>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001243616 CA5966177 rs767614212 |
10 | E>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5966178 rs752759500 |
11 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA380251370 rs1211619198 |
11 | G>R | No |
ClinGen gnomAD |
|
|
RCV001306771 rs1022528700 CA380251378 |
12 | K>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs144460540 CA5966179 |
12 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA221627885 rs940672700 |
13 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA380251383 rs1188061714 |
13 | K>R | No |
ClinGen TOPMed |
|
|
rs1463575258 CA380251389 |
14 | A>T | No |
ClinGen TOPMed |
|
|
rs2064700135 RCV001230264 |
15 | L>Q | No |
ClinVar dbSNP |
|
|
rs978091102 CA221627891 |
16 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5966183 rs778672425 |
17 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5966185 rs201062665 |
18 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201062665 CA380251410 |
18 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201062665 CA5966184 RCV001234677 |
18 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5966227 RCV001348732 rs376908315 |
18 | A>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs747726214 CA380251422 |
19 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747726214 CA5966228 |
19 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747726214 CA380251423 |
19 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380251427 rs1419505384 |
20 | E>K | No |
ClinGen gnomAD |
|
|
CA5966230 rs777701406 |
22 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA380251449 rs1592397273 |
23 | L>P | No |
ClinGen Ensembl |
|
|
CA380251469 rs1367082195 |
26 | D>E | No |
ClinGen gnomAD |
|
|
rs1254866110 CA380251475 |
27 | L>F | No |
ClinGen gnomAD |
|
|
CA5966233 rs775735680 |
28 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1455858290 CA380251477 |
28 | G>R | No |
ClinGen gnomAD |
|
|
CA5966235 rs768959670 |
29 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1592397301 CA380251493 |
30 | N>T | No |
ClinGen Ensembl |
|
|
rs776844216 CA5966237 |
31 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765778458 CA5966238 |
31 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs776844216 CA5966236 |
31 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380251512 rs1395670154 |
33 | G>V | No |
ClinGen gnomAD |
|
|
CA380251513 rs1319683174 |
34 | E>K | No |
ClinGen gnomAD |
|
|
rs750969351 CA380251538 |
37 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA5966239 rs750969351 |
37 | T>R | No |
ClinGen ExAC gnomAD |
|
|
RCV001298417 rs1388603763 CA380251550 |
39 | G>C | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1565693379 RCV001212564 |
39 | G>D | No |
ClinVar dbSNP |
|
|
rs1565693379 CA380251552 |
39 | G>V | No |
ClinGen Ensembl |
|
|
CA380251555 rs766675158 |
40 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766675158 CA5966241 |
40 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966242 rs147975328 RCV000658591 |
42 | D>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 43 | V>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752146947 CA5966245 |
45 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5966247 rs777650151 |
46 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA5966246 rs755628232 |
46 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs749209470 CA380251598 |
47 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749209470 CA5966248 |
47 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5966249 rs770953592 |
49 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs778538528 CA5966250 |
50 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5966254 rs768984840 |
55 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA5966255 rs777003587 |
58 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs770022952 CA5966257 |
60 | G>D | No |
ClinGen ExAC |
|
|
rs1309897299 CA380251686 |
62 | A>T | No |
ClinGen gnomAD |
|
|
CA380251695 rs1375969701 |
63 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA380251694 rs1375969701 |
63 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1030308753 CA221629828 |
64 | G>R | No |
ClinGen Ensembl |
|
|
CA5966260 rs766978108 |
65 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA380251706 rs1565693457 |
65 | P>S | No |
ClinGen Ensembl |
|
|
CA5966264 rs35652367 |
67 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1209035112 CA380251716 |
67 | L>H | No |
ClinGen gnomAD |
|
|
RCV000969067 CA5966263 rs35652367 |
67 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5966265 rs767091707 |
68 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs2064705913 RCV001201497 |
69 | K>R | No |
ClinVar dbSNP |
|
|
rs545104572 CA221629876 |
71 | Q>K | No |
ClinGen 1000Genomes |
|
|
CA5966268 rs763576993 |
72 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs755574785 CA5966267 |
72 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs565293674 COSM1234000 RCV001240202 CA5966269 |
75 | V>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1246892224 CA380251771 |
76 | W>R | No |
ClinGen TOPMed |
|
|
rs757133926 CA5966270 |
79 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380251804 rs144349577 |
80 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1592397508 CA380251802 |
80 | D>G | No |
ClinGen Ensembl |
|
|
rs1295421585 CA380251798 |
80 | D>N | No |
ClinGen TOPMed |
|
|
CA380251815 rs1592397524 |
82 | L>P | No |
ClinGen Ensembl |
|
|
CA5966275 rs748404308 |
84 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1276511095 CA380251844 |
87 | L>P | No |
ClinGen gnomAD |
|
|
rs1230593485 CA599372251 |
88 | W>* | No |
ClinGen gnomAD |
|
|
CA5966277 rs773162748 RCV001302284 |
88 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA5966278 rs749443053 |
89 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs774928046 CA5966280 |
90 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1592397574 CA380251867 |
91 | L>P | No |
ClinGen Ensembl |
|
|
CA380251874 rs1592397582 |
92 | E>G | No |
ClinGen Ensembl |
|
|
CA380251878 rs1345059642 |
93 | E>K | No |
ClinGen gnomAD |
|
|
rs1014730315 CA221630022 |
94 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5966283 rs775886531 |
94 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380251887 rs775886531 |
94 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380251893 rs1592397607 |
95 | S>A | No |
ClinGen Ensembl |
|
|
rs1592397618 RCV001295305 |
98 | K>* | No |
ClinVar dbSNP |
|
|
rs1592397618 CA380251910 |
98 | K>Q | No |
ClinGen Ensembl |
|
|
rs1592397631 CA380251923 |
99 | E>G | No |
ClinGen Ensembl |
|
|
rs1260155813 CA380251918 |
99 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA380251946 rs1325461318 |
102 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs953367061 CA221630082 |
102 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA380251940 rs1489797905 |
102 | E>K | No |
ClinGen TOPMed |
|
|
rs765015396 CA5966288 |
104 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1435670579 CA380251967 |
106 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1291345538 CA380251973 |
107 | R>W | No |
ClinGen gnomAD |
|
|
CA380251989 rs1592397666 |
109 | E>G | No |
ClinGen Ensembl |
|
|
RCV001238416 CA5966313 rs757472255 |
111 | N>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1358063669 CA380252040 |
115 | G>D | No |
ClinGen gnomAD |
|
|
rs772551633 CA5966318 |
117 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1308621015 CA5966316 |
117 | W>R | No |
ClinGen gnomAD |
|
|
rs747305214 CA5966320 |
120 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747305214 COSM927261 CA5966321 |
120 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1403976590 RCV001240590 CA380252077 |
121 | C>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA380252083 rs776097939 |
122 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5966322 rs776097939 |
122 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA380252092 rs1164972461 |
123 | C>F | No |
ClinGen TOPMed |
|
|
rs1284031600 CA380252095 |
124 | E>K | No |
ClinGen gnomAD |
|
|
CA380252096 rs1284031600 |
124 | E>Q | No |
ClinGen gnomAD |
|
|
CA5966325 rs772843233 |
125 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766352525 CA5966326 |
127 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441643426 CA380252131 |
129 | W>* | No |
ClinGen gnomAD |
|
|
CA380252134 rs1430168362 |
129 | W>* | No |
ClinGen TOPMed |
|
|
rs751580055 CA5966327 |
130 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765344131 CA5966328 |
131 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221631346 rs895423814 |
135 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5966342 rs367608316 RCV001301611 |
135 | R>W | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA221631354 rs879387793 |
136 | G>C | No |
ClinGen Ensembl |
|
| TCGA novel | 136 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5966345 rs774055830 |
139 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs879505746 CA221631378 |
139 | E>D | No |
ClinGen Ensembl |
|
|
rs1172331806 CA380252211 |
140 | S>N | No |
ClinGen gnomAD |
|
|
CA380252215 rs1592398646 |
140 | S>R | No |
ClinGen Ensembl |
|
|
rs1195809517 CA380252222 |
141 | E>D | No |
ClinGen gnomAD |
|
|
rs1424824395 CA380252226 |
142 | G>* | No |
ClinGen gnomAD |
|
|
rs1388387955 CA380252227 |
142 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 144 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380252238 rs1592398654 |
144 | V>M | No |
ClinGen Ensembl |
|
|
rs759489648 CA5966346 |
145 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760395868 CA5966349 RCV001226284 |
148 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs775347285 CA5966348 |
148 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1329401089 CA380252265 |
149 | I>V | No |
ClinGen gnomAD |
|
|
rs375018759 RCV001306774 CA221631401 |
150 | S>N | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
rs758420858 CA5966352 COSM1233999 |
151 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5966354 rs751676659 |
154 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA221631426 rs1030898067 |
156 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5966355 rs560579023 |
157 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560579023 CA380252316 |
157 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1469862599 CA380252326 |
158 | Y>F | No |
ClinGen TOPMed |
|
|
rs892408147 CA221631448 |
159 | Q>P | No |
ClinGen TOPMed |
|
|
rs892408147 CA380252333 |
159 | Q>R | No |
ClinGen TOPMed |
|
|
CA380252346 rs1592398727 |
161 | V>G | No |
ClinGen Ensembl |
|
|
CA5966359 rs777520590 |
164 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388135347 CA380252363 |
165 | S>A | No |
ClinGen gnomAD |
|
|
rs748927988 CA5966360 |
165 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966361 rs770749630 |
166 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221631475 RCV001225945 rs1026055570 |
167 | L>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA380252377 rs1026055570 |
167 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1204898924 CA380252397 |
170 | W>C | No |
ClinGen TOPMed |
|
|
rs1349555798 CA380252400 |
171 | P>S | No |
ClinGen TOPMed |
|
|
rs552345571 CA5966364 |
172 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380252406 rs1592398780 |
172 | Q>P | No |
ClinGen Ensembl |
|
|
CA380252433 RCV001237329 rs1241761884 |
176 | E>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs760474542 CA380252447 |
178 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760474542 CA5966366 |
178 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380252443 rs1323253302 |
178 | P>T | No |
ClinGen gnomAD |
|
|
rs1218078543 CA380252474 |
182 | Q>H | No |
ClinGen gnomAD |
|
|
CA5966368 rs372057824 |
182 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA221631527 rs1019300884 |
183 | P>L | No |
ClinGen gnomAD |
|
|
CA5966369 rs776456848 |
184 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA380252492 rs1184386705 |
186 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1228542832 CA380252519 |
189 | A>V | No |
ClinGen gnomAD |
|
|
rs1342171083 CA380252521 |
190 | A>P | No |
ClinGen TOPMed |
|
|
rs766652513 CA380252526 |
191 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5966371 rs766652513 |
191 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA380252531 rs1187492124 |
192 | A>T | No |
ClinGen gnomAD |
|
|
CA380252544 rs1383868514 |
193 | V>L | No |
ClinGen gnomAD |
|
|
CA380252548 rs1383868514 |
193 | V>M | No |
ClinGen gnomAD |
|
|
RCV001316748 rs748261520 |
194 | V>missing | No |
ClinVar dbSNP |
|
|
RCV000948864 RCV000248955 rs148055528 |
194 | V>missing | No |
ClinVar dbSNP |
|
|
CA221631562 rs145722187 |
194 | V>E | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA5966374 RCV001339450 rs145722187 |
194 | V>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
|
rs77373752 RCV001348192 CA5966375 |
195 | T>A | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA221631575 rs77373752 |
195 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376220307 CA221631578 |
196 | E>A | No |
ClinGen ESP |
|
|
CA221631584 rs753168085 |
196 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768029474 CA5966376 |
196 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs376220307 CA380252574 |
196 | E>V | No |
ClinGen ESP |
|
|
rs1592398885 CA380252584 |
197 | V>G | No |
ClinGen Ensembl |
|
|
CA380252598 rs1592398887 |
199 | S>A | No |
ClinGen Ensembl |
|
|
rs945267104 CA221631592 |
200 | A>P | No |
ClinGen TOPMed |
|
|
rs2064723858 RCV001208176 |
201 | V>I | No |
ClinVar dbSNP |
|
|
CA380252622 rs1384722572 |
202 | Q>* | No |
ClinGen TOPMed |
|
|
CA380252629 rs1396333448 |
202 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5966378 rs756736738 |
203 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs778253784 CA5966379 |
204 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5966381 rs754324403 |
207 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5966380 rs754324403 |
207 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1352298950 CA380252690 |
208 | P>A | No |
ClinGen gnomAD |
|
|
rs778725746 CA380252698 |
208 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778725746 CA5966382 |
208 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380252732 rs1238530094 |
210 | E>D | No |
ClinGen TOPMed |
|
|
CA5966384 rs771510716 |
213 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1200172621 CA380252787 |
214 | E>Q | No |
ClinGen gnomAD |
|
|
rs1241679808 CA380252818 |
215 | P>S | No |
ClinGen gnomAD |
|
|
CA5966385 rs779989139 |
216 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1379796885 CA380252868 |
217 | I>M | No |
ClinGen gnomAD |
|
|
rs1179778113 CA380252862 |
217 | I>T | No |
ClinGen gnomAD |
|
|
rs1331974927 CA380253882 |
218 | D>G | No |
ClinGen gnomAD |
|
|
rs370484737 CA380253890 |
219 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370484737 CA5966406 |
219 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA380253919 rs1221101318 |
224 | P>H | No |
ClinGen TOPMed |
|
|
rs769599754 CA5966408 |
224 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5966410 rs142877290 |
227 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA380253944 rs1219556644 |
228 | Q>R | No |
ClinGen gnomAD |
|
|
CA5966411 RCV000974525 rs147850078 |
230 | E>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA380253972 rs1224394264 |
232 | M>T | No |
ClinGen gnomAD |
|
|
rs766548133 CA221632703 |
233 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs766548133 CA5966412 |
233 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5966414 rs764632543 |
235 | P>R | No |
ClinGen ExAC |
|
|
rs1023098875 CA221632711 |
235 | P>S | No |
ClinGen gnomAD |
|
|
rs750837765 CA5966419 |
241 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1445277676 CA380254030 |
241 | T>S | No |
ClinGen TOPMed |
|
|
rs1322665867 CA380254036 |
242 | Q>R | No |
ClinGen gnomAD |
|
|
rs1408187921 CA380254040 |
243 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA221632741 rs766111417 |
244 | R>P | No |
ClinGen ExAC gnomAD |
|
|
RCV001317271 CA5966421 rs766111417 |
244 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5966422 rs751012493 |
245 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA380254064 rs1423389202 |
247 | K>E | No |
ClinGen gnomAD |
|
|
rs754488553 RCV000417438 CA5966423 |
247 | K>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1400210344 CA380254096 |
251 | P>Q | No |
ClinGen gnomAD |
|
|
rs1357726889 CA380254095 |
251 | P>S | No |
ClinGen TOPMed |
|
|
rs748056126 CA380254100 |
252 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748056126 CA5966425 |
252 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1291163377 CA380254107 |
253 | G>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 254 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866988918 CA221632786 |
257 | Q>* | No |
ClinGen Ensembl |
|
|
CA380254132 rs1220267368 |
257 | Q>P | No |
ClinGen gnomAD |
|
|
CA5966429 rs772130354 |
260 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966431 rs747049480 |
261 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs747049480 RCV001300554 |
261 | V>M | No |
ClinVar dbSNP |
|
|
rs377281336 CA380254169 |
262 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1474275474 CA380254166 |
262 | D>G | No |
ClinGen gnomAD |
|
|
CA221632812 rs922774524 |
263 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5966433 RCV001063877 rs542945003 |
266 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs765836448 CA5966435 |
271 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA5966436 RCV001247877 rs138812940 |
272 | P>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5966437 rs763390169 |
273 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 276 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2064735254 RCV001203840 |
276 | Q>R | No |
ClinVar dbSNP |
|
|
rs1450565797 CA380254267 |
277 | S>G | No |
ClinGen gnomAD |
|
|
rs552520818 CA5966438 |
277 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371159153 CA5966439 |
278 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM927266 rs754673156 CA5966440 |
279 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA221632893 rs1051988792 |
282 | Q>* | No |
ClinGen TOPMed |
|
|
rs752269689 CA5966442 |
288 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 289 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755337759 CA221632900 |
290 | A>T | No |
ClinGen Ensembl |
|
|
CA5966443 rs755989412 |
291 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777777641 CA5966444 |
291 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380254391 rs1053683092 |
296 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA221632920 rs1053683092 RCV001298542 |
296 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA380254395 rs1449842255 |
297 | R>G | No |
ClinGen TOPMed |
|
|
CA380254403 rs371633363 |
298 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5966446 rs371633363 RCV001231354 |
298 | G>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA380254406 rs1243511222 |
298 | G>V | No |
ClinGen gnomAD |
|
|
rs747216699 CA5966448 RCV001061972 |
299 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs780379223 CA5966447 |
299 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1381569200 CA380254418 |
300 | Q>H | No |
ClinGen TOPMed |
|
|
rs1381654753 CA380254424 |
301 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380254433 rs1411414306 |
303 | G>S | No |
ClinGen TOPMed |
|
|
COSM1475457 rs932534447 CA221632955 |
304 | Y>F | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs375603912 CA5966451 |
306 | A>T | No |
ClinGen ESP ExAC |
|
|
rs770143455 CA5966452 |
307 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA380254480 rs1451150914 |
310 | H>L | No |
ClinGen gnomAD |
|
|
CA380254487 rs1377761013 |
311 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs753232073 CA221633002 |
312 | P>T | No |
ClinGen Ensembl |
|
|
rs1277850118 CA380254500 |
313 | S>C | No |
ClinGen gnomAD |
|
|
rs774737306 CA5966457 |
314 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs766743340 CA5966456 |
314 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA380254513 rs1565695139 |
315 | Q>E | No |
ClinGen Ensembl |
|
|
CA380254527 rs1460672799 |
316 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5966458 rs759183860 |
317 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767212569 CA5966459 |
318 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5966460 rs752142818 |
319 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5966461 rs760233268 |
319 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5966462 rs763894842 |
320 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs753831885 CA5966463 |
323 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA380254566 rs1221508624 |
323 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 323 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5966464 rs757195115 |
324 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA221633052 rs939657397 |
324 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA221633058 rs1003630769 |
325 | P>A | No |
ClinGen TOPMed |
|
|
rs1468521622 CA380254575 |
325 | P>L | No |
ClinGen gnomAD |
|
|
CA5966465 rs778823668 |
326 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs371436935 CA5966466 |
327 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5966467 rs755241014 |
330 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA380254613 rs756628689 |
331 | G>D | No |
ClinGen TOPMed |
|
|
CA221633066 rs756628689 |
331 | G>V | No |
ClinGen TOPMed |
|
|
CA5966469 rs748111651 |
332 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380254616 RCV001314463 rs1277199267 |
332 | F>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5966471 rs778093196 |
334 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966472 rs749771014 |
334 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774684034 CA5966474 |
335 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1247855210 CA380254631 |
335 | L>I | No |
ClinGen gnomAD |
|
|
rs774684034 CA5966475 |
335 | L>P | No |
ClinGen ExAC gnomAD |
|
|
RCV001304364 rs150368802 CA5966476 |
336 | S>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV000959911 VAR_052823 rs36017347 CA5966479 |
337 | R>P | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs36017347 CA5966480 |
337 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA221633136 rs1036667458 |
337 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA380254648 rs1209535661 |
338 | S>R | No |
ClinGen gnomAD |
|
|
CA380254665 rs1373973429 |
341 | G>D | No |
ClinGen gnomAD |
|
|
CA380254664 rs1190654651 |
341 | G>S | No |
ClinGen TOPMed |
|
|
CA380254670 rs1166620803 |
342 | P>S | No |
ClinGen gnomAD |
|
|
rs761808992 RCV000994610 CA5966481 |
344 | G>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA380254718 rs1302788412 |
349 | Q>H | No |
ClinGen gnomAD |
|
|
CA5966482 rs765325443 |
349 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256459540 CA380254725 |
350 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5966484 rs758273578 COSM1353987 |
351 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5966485 rs143952516 |
351 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001320799 CA221633161 rs143952516 |
351 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5966486 rs534022710 COSM1233998 |
352 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA5966488 rs777903493 RCV001046777 |
353 | Y>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5966487 rs756330969 |
353 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5966490 rs375616892 |
354 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749384154 CA5966489 |
354 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2064738219 RCV001325649 |
355 | C>* | No |
ClinVar dbSNP |
|
|
CA380254771 rs1364805923 |
359 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 361 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5966492 rs779395115 |
362 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs746187942 CA221633213 |
363 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746187942 CA221633207 |
363 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966494 rs772445812 |
364 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1445762496 CA380254859 |
370 | K>R | No |
ClinGen gnomAD |
|
|
CA5966499 rs776195593 |
371 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966498 rs776195593 |
371 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141624151 CA380254879 |
372 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141624151 CA5966501 RCV001053827 |
372 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA380254895 rs1592400206 |
373 | F>C | No |
ClinGen Ensembl |
|
|
rs1431527572 CA380254889 |
373 | F>I | No |
ClinGen TOPMed |
|
|
CA5966502 rs762788630 |
375 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA5966503 rs367702172 |
376 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1018958455 CA221633282 |
378 | H>R | No |
ClinGen Ensembl |
|
|
rs1010213682 RCV001237567 CA221633275 |
378 | H>Y | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA5966505 rs756345114 |
379 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs764234723 CA5966506 |
380 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5966508 rs757356469 |
389 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1376817289 CA380255130 |
393 | E>A | No |
ClinGen gnomAD |
|
|
CA380255142 rs1203827577 |
394 | E>V | No |
ClinGen gnomAD |
|
|
CA5966510 rs779339982 |
399 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1462196478 CA380255220 |
399 | H>Y | No |
ClinGen gnomAD |
|
|
RCV001342670 rs996254195 CA221633347 |
400 | M>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA380255265 rs1251540409 |
402 | G>S | No |
ClinGen TOPMed |
|
|
CA5966512 rs140116816 RCV001240907 |
404 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs201645303 CA5966513 |
407 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160126418 CA380255333 COSM290135 |
407 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1329133687 CA380255365 |
409 | F>Y | No |
ClinGen TOPMed |
|
|
rs1286950162 CA380255379 |
410 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5966514 rs747394091 |
412 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1592400307 CA380255408 |
412 | P>R | No |
ClinGen Ensembl |
|
|
CA5966516 rs369874835 |
414 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769452895 CA5966518 |
415 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs766284372 CA5966521 |
418 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371951145 CA5966523 |
421 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5966525 rs754079461 RCV001327773 |
422 | R>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5966526 rs757516157 |
422 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 424 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765266301 CA5966527 |
425 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221633492 rs376830686 |
429 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001247598 rs376830686 CA5966528 |
429 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5966530 rs780441401 |
430 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA380255633 rs1431185083 |
431 | H>Y | No |
ClinGen gnomAD |
|
|
rs1565695461 CA380255644 |
432 | S>L | No |
ClinGen Ensembl |
|
|
rs780850451 CA5966533 |
433 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs185413257 CA5966535 |
435 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747780603 CA5966534 |
435 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs369908586 CA5966536 RCV001043574 |
436 | P>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs372234249 CA221633591 |
438 | A>T | No |
ClinGen Ensembl |
|
|
rs759323862 CA5966540 |
439 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA380255688 rs1324733637 |
440 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 440 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380255693 rs1241016879 |
441 | Q>E | No |
ClinGen TOPMed |
|
|
CA221633609 rs769357381 |
442 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 442 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311690533 CA380255713 |
443 | G>S | No |
ClinGen TOPMed |
|
|
CA5966542 rs775300183 |
445 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5966541 rs771737879 |
445 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001049082 rs775300183 |
445 | A>V | No |
ClinVar dbSNP |
|
|
rs765506026 CA5966544 |
447 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA380255762 rs1479670739 |
447 | A>V | No |
ClinGen gnomAD |
|
|
CA5966545 RCV001209307 rs750447937 |
448 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5966546 rs572559808 |
448 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380255769 rs572559808 |
448 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376401300 CA5966548 |
449 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5966547 COSM278307 rs373245310 RCV001233759 |
449 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001351306 rs199859092 CA5966549 |
450 | P>L | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1161004245 CA380255781 |
450 | P>S | No |
ClinGen TOPMed |
|
|
rs1470769604 CA380255793 |
451 | S>C | No |
ClinGen TOPMed |
|
|
CA380255795 rs1470769604 |
451 | S>F | No |
ClinGen TOPMed |
|
|
CA5966550 rs781380514 |
451 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs369247386 CA5966551 |
453 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1171017409 CA380255805 |
453 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs748766267 CA5966553 |
456 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001204360 rs576928706 CA5966554 |
456 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 457 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 458 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5966555 rs778532834 |
460 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
RCV001314720 CA5966556 rs745757511 |
461 | V>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5966557 rs376426386 |
462 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA380255908 rs545799372 |
463 | A>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs2064741226 RCV001348168 |
463 | A>P | No |
ClinVar dbSNP |
|
|
rs545799372 CA5966559 |
463 | A>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs1490262722 CA380255933 |
466 | A>T | No |
ClinGen gnomAD |
|
|
CA5966561 rs769938302 |
466 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5966562 rs773456855 |
467 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs531501450 CA5966563 |
468 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs531501450 CA221633765 |
468 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751701367 CA5966565 |
472 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA221633813 rs759956404 |
473 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966566 rs759956404 |
473 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221633828 rs952174537 |
475 | R>Q | No |
ClinGen TOPMed |
|
|
rs768151401 CA5966567 |
475 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380256075 rs1300845824 |
479 | N>S | No |
ClinGen gnomAD |
|
|
rs1167211539 RCV001227451 CA380256082 |
480 | Q>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA380256097 rs1347330716 |
481 | G>C | No |
ClinGen gnomAD |
|
|
CA5966571 rs753407197 |
484 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777516867 CA5966570 |
484 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1358772794 CA380256137 |
485 | N>K | No |
ClinGen gnomAD |
|
|
rs756971532 CA5966572 |
485 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs147665397 CA5966573 |
486 | H>R | No |
ClinGen ESP ExAC |
|
|
CA5966574 rs745445688 |
487 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs548403906 CA5966575 |
488 | R>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779973655 CA5966577 |
489 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA5966576 rs779973655 |
489 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA380256176 RCV000521460 rs1555155069 |
491 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs561740128 CA380256182 |
492 | G>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5966579 rs561740128 VAR_074614 |
492 | G>R | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
| TCGA novel | 493 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484874852 CA380256193 |
493 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1390641831 CA380256188 |
493 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 495 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140853348 CA221633901 RCV001303685 |
495 | P>S | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
rs771251935 CA5966581 |
499 | P>L | No |
ClinGen ExAC gnomAD |
|
|
RCV001324988 rs1260480825 CA380256242 |
501 | C>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5966585 rs776161956 |
502 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs761309547 CA5966586 |
503 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1373249091 CA380256255 |
503 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380256258 rs1318128422 |
504 | A>P | No |
ClinGen gnomAD |
|
|
rs764519905 CA5966587 |
504 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA221633960 rs866580093 |
506 | R>C | No |
ClinGen Ensembl |
|
|
CA380256273 rs1337910600 COSM1492516 |
506 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1289074050 CA380256278 |
507 | Q>* | No |
ClinGen TOPMed |
|
|
CA380256285 rs1450461398 |
508 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1450461398 CA380256287 |
508 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5966589 rs373386613 |
508 | R>W | Variant assessed as Somatic; 4.78e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764960325 CA5966590 |
509 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs749840871 CA5966591 |
510 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1195532 RCV001040090 rs757937681 CA5966592 |
512 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs375760341 RCV001338598 CA5966593 |
512 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001046774 rs147829946 CA5966597 |
516 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001240837 rs754950117 CA5966596 |
516 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA380256432 rs1592400715 |
518 | H>P | No |
ClinGen Ensembl |
|
|
CA5966600 rs745884462 |
520 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768515396 RCV001341177 CA5966599 |
520 | G>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA380256481 rs1471127466 |
521 | E>A | No |
ClinGen gnomAD |
|
|
CA380256494 rs1450869063 |
522 | R>C | No |
ClinGen gnomAD |
|
|
rs971021664 COSM1243773 CA221634027 |
522 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA380256500 rs971021664 |
522 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5966601 rs772255806 |
523 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA221634040 RCV001241417 rs112161792 |
523 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5966602 rs775749234 |
525 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966603 rs143607576 |
525 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5966604 rs764751119 |
526 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs762247768 CA380256580 |
528 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966606 rs762247768 |
528 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966605 rs776806443 |
528 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
CA380256594 rs1277939631 |
529 | C>R | No |
ClinGen gnomAD |
|
|
rs979811125 CA221634053 |
529 | C>S | No |
ClinGen TOPMed |
|
|
CA380256591 rs1277939631 |
529 | C>S | No |
ClinGen gnomAD |
|
|
rs549763290 CA5966607 |
530 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA5966609 rs560055645 |
531 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221634083 rs997277064 |
532 | A>S | No |
ClinGen TOPMed |
|
|
rs765845582 CA221634087 |
533 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029681188 CA221634095 |
534 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1253446634 CA380256686 |
534 | P>S | No |
ClinGen TOPMed |
|
|
CA5966612 rs201135086 RCV000994611 |
540 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA5966611 rs751136502 |
540 | R>W | Variant assessed as Somatic; 4.786e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5966613 rs747857641 |
541 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380256859 rs1429004611 |
546 | H>L | No |
ClinGen gnomAD |
|
|
rs575929490 CA221634119 |
547 | T>I | No |
ClinGen Ensembl |
|
|
CA5966618 CA380256881 rs780263053 COSM688025 |
548 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1326925338 CA380256935 |
551 | H>P | No |
ClinGen gnomAD |
|
|
CA380256962 rs1367752616 |
552 | L>F | No |
ClinGen gnomAD |
|
|
CA380256967 rs1565695852 |
553 | C>G | No |
ClinGen Ensembl |
|
|
rs555978936 RCV001327328 CA5966620 |
554 | P>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 555 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA599372317 rs1271801917 |
556 | C>* | No |
ClinGen gnomAD |
|
|
rs1231006972 CA380257037 |
556 | C>F | No |
ClinGen gnomAD |
|
|
rs201672624 CA380257048 |
557 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5966622 rs201672624 RCV001308471 |
557 | G>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1271848600 CA380257085 |
559 | A>D | No |
ClinGen gnomAD |
|
|
CA380257101 rs1490753426 |
560 | L>H | No |
ClinGen gnomAD |
|
|
rs1222734712 COSM127046 CA380257110 |
561 | R>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1268650032 CA380257113 |
561 | R>Q | No |
ClinGen gnomAD |
|
|
rs532460196 CA380257330 |
563 | P>L | No |
ClinGen gnomAD |
|
|
CA221634195 rs532460196 |
563 | P>R | No |
ClinGen gnomAD |
|
|
CA380257338 rs1423907304 |
564 | H>Q | No |
ClinGen TOPMed |
|
| rs1274593315 | 565 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770176632 CA5966623 RCV001294925 |
565 | T>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA380257341 rs370071003 |
565 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5966624 rs370071003 RCV001349314 |
565 | T>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 566 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001203025 rs762589100 CA5966625 |
566 | L>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001007996 rs774627405 CA5966626 |
567 | R>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5966627 rs553942379 |
567 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384796957 CA380257351 |
568 | A>T | No |
ClinGen gnomAD |
|
|
CA5966629 rs767306062 RCV000785158 RCV002535723 |
570 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA380257374 rs1294823060 |
571 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1294823060 CA380257373 |
571 | R>G | No |
ClinGen gnomAD |
|
|
CA380257375 RCV001203026 rs1360929105 |
571 | R>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA5966630 rs752657516 |
573 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA380257385 rs1290494335 |
573 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 574 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5966633 rs545860252 |
575 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001234006 rs576989115 CA5966632 |
575 | G>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA5966635 rs562455857 |
576 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5966634 rs758632792 |
576 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221634293 rs373853572 |
581 | C>S | No |
ClinGen Ensembl |
|
|
rs896981138 CA221634295 |
582 | P>A | No |
ClinGen Ensembl |
|
|
CA380257444 rs1376027564 |
582 | P>L | No |
ClinGen TOPMed |
|
| VAR_074616 | 583 | Q>K | No | UniProt | |
|
rs1367006502 CA380257465 |
585 | G>D | No |
ClinGen gnomAD |
|
|
rs925018448 CA221634309 |
586 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5966638 rs199874966 |
586 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748658565 CA5966639 |
587 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5966640 rs201157341 |
589 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380257497 rs763322327 |
591 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5966642 rs763322327 |
591 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1313714090 CA380257506 |
593 | K>* | No |
ClinGen gnomAD |
|
|
RCV001319941 CA221634324 rs980142886 COSM3935474 |
595 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA5966643 rs770529455 RCV001307397 |
595 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs774012371 CA5966644 RCV001201903 |
596 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5966645 rs759235291 |
596 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1462153504 CA380257544 |
599 | K>I | No |
ClinGen gnomAD |
|
|
rs1462153504 CA380257543 |
599 | K>R | No |
ClinGen gnomAD |
|
|
rs1183129468 CA380257564 |
602 | L>S | No |
ClinGen gnomAD |
|
|
rs767021477 CA5966646 |
604 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA221634329 rs200749198 |
606 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200749198 CA5966647 |
606 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5966648 rs760644029 |
608 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1233997 CA5966649 rs763950014 |
608 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753618518 CA5966650 |
609 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5966651 rs757153216 |
611 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs780377194 CA5966652 |
611 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1392793406 CA380257637 |
613 | G>V | No |
ClinGen gnomAD |
|
|
rs1335552544 CA380257644 |
614 | M>I | No |
ClinGen gnomAD |
|
|
CA5966653 rs751812985 |
615 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA221634337 rs989901119 |
616 | Y>H | No |
ClinGen gnomAD |
|
|
rs748234415 CA5966655 |
618 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5966657 RCV001339803 rs778258221 |
619 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs756588161 CA5966656 |
619 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564289075 CA5966658 |
620 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5966660 rs774737401 |
624 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5966659 rs771261129 |
624 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1285353867 CA380257718 |
626 | Q>H | No |
ClinGen TOPMed |
|
|
rs138519217 CA380257743 |
630 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138519217 RCV001057743 CA5966663 |
630 | R>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5966661 RCV001059080 rs745529105 |
630 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5966667 COSM1721067 rs761895730 |
631 | P>S | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1355575756 CA380257757 |
633 | A>T | No |
ClinGen TOPMed |
|
|
rs535812682 CA5966669 |
633 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380257779 rs755215058 RCV001339083 |
636 | S>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5966670 rs755215058 |
636 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5966673 rs756169535 |
637 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5966672 rs752757520 |
637 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs749763353 CA5966675 |
642 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs757827254 CA5966676 |
643 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221634460 rs193206095 |
643 | A>T | No |
ClinGen 1000Genomes |
|
|
CA380257825 rs1270808037 |
644 | A>V | No |
ClinGen gnomAD |
|
|
CA380257828 rs1480606897 |
645 | S>A | No |
ClinGen gnomAD |
|
|
CA5966677 rs779231756 |
647 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966680 rs775032919 |
648 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs746481668 CA5966681 |
649 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768261855 CA5966682 |
651 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA380257875 rs1436288519 |
653 | Q>R | No |
ClinGen gnomAD |
|
|
CA380257891 rs1292131129 |
655 | E>D | No |
ClinGen gnomAD |
|
|
rs1475641938 CA380257898 |
656 | P>Q | No |
ClinGen TOPMed |
|
|
rs765325050 CA5966685 |
659 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565696164 CA380257916 |
660 | D>Y | No |
ClinGen Ensembl |
|
|
rs1485634848 RCV001321560 |
662 | H>missing | No |
ClinVar dbSNP |
|
|
CA5966686 rs370886120 |
663 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5966688 rs373784613 |
665 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756397869 CA5966690 |
666 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764155398 CA5966691 |
667 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA5966692 rs753976769 |
668 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA221634505 rs969516348 |
669 | P>L | No |
ClinGen TOPMed |
|
|
rs370145518 CA380257989 |
670 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001202893 rs764897691 |
670 | A>missing | No |
ClinVar dbSNP |
|
|
rs374921720 CA221634507 RCV001320741 |
671 | R>T | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA5966696 rs750758070 |
672 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750758070 CA380258001 |
672 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034707751 CA221634521 |
675 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 676 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5966698 rs758709336 |
677 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380258033 rs758709336 |
677 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966699 rs780519489 |
678 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs2064747785 RCV001320509 |
678 | I>T | No |
ClinVar dbSNP |
|
|
rs746613555 CA5966700 |
681 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5966701 rs768493021 |
682 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380258065 rs768493021 |
682 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5966702 rs780837071 |
683 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA5966703 rs747674872 |
684 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380258114 rs1318457675 |
689 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA221634585 rs960443372 |
691 | E>K | No |
ClinGen TOPMed |
|
|
rs1267356283 CA380258137 |
692 | P>R | No |
ClinGen gnomAD |
|
|
rs1184950074 CA380258144 |
693 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs770599186 CA5966708 |
693 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1565696311 CA380258150 |
694 | A>G | No |
ClinGen Ensembl |
|
|
COSM189656 rs149066130 CA5966710 RCV000889347 |
695 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs149392070 CA5966713 |
697 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780281615 CA5966717 |
699 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs941299593 CA221634632 |
700 | L>Q | No |
ClinGen TOPMed |
|
|
rs752023780 CA5966718 |
700 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA380258194 rs1339906888 |
702 | H>R | No |
ClinGen gnomAD |
|
|
rs1337517998 CA380258192 |
702 | H>Y | No |
ClinGen gnomAD |
|
|
CA380258200 rs1446122926 |
703 | K>Q | No |
ClinGen gnomAD |
|
|
COSM927271 rs754620684 CA5966719 |
704 | D>G | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1228854698 CA380258215 RCV001057059 |
705 | M>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1295641179 RCV001053135 CA380258229 |
707 | L>F | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs932177512 CA221634652 |
707 | L>H | No |
ClinGen Ensembl |
|
|
rs372605963 COSM927273 CA5966721 |
708 | G>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs201274733 CA5966723 |
709 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201274733 CA5966724 RCV001345987 |
709 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770957732 CA5966725 |
709 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1207589822 CA380258255 |
711 | A>V | No |
ClinGen gnomAD |
|
|
rs1234320114 CA380258257 |
712 | E>Q | No |
ClinGen gnomAD |
|
|
RCV001207809 CA5966726 rs201697919 |
713 | V>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 714 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380258269 rs1410175417 |
714 | V>M | No |
ClinGen gnomAD |
|
|
rs1296690556 CA380258284 |
716 | V>L | No |
ClinGen TOPMed |
|
|
rs1296690556 CA380258282 |
716 | V>M | No |
ClinGen TOPMed |
|
|
CA380258294 rs1330977466 |
717 | E>D | No |
ClinGen gnomAD |
|
|
rs768822184 CA5966729 |
717 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5966730 rs539546295 |
718 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1355383374 CA380258296 |
718 | M>V | No |
ClinGen gnomAD |
|
|
CA5966731 rs762068273 |
720 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA380258317 rs1348338432 |
721 | T>S | No |
ClinGen gnomAD |
No associated diseases with Q9H9D4
12 regional properties for Q9H9D4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 1078 - 1345 | IPR000719 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 1078 - 1336 | IPR001245 |
| domain | Sema domain | 27 - 515 | IPR001627 |
| repeat | Plexin repeat | 520 - 561 | IPR002165 |
| domain | IPT domain | 562 - 655 | IPR002909-1 |
| domain | IPT domain | 656 - 739 | IPR002909-2 |
| domain | IPT domain | 741 - 836 | IPR002909-3 |
| domain | IPT domain | 838 - 934 | IPR002909-4 |
| active_site | Tyrosine-protein kinase, active site | 1200 - 1212 | IPR008266 |
| domain | PSI domain | 519 - 562 | IPR016201 |
| binding_site | Protein kinase, ATP binding site | 1084 - 1110 | IPR017441 |
| domain | Tyrosine-protein kinase, catalytic domain | 1078 - 1337 | IPR020635 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| 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. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
177 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q08DS3 | OSR1 | Protein odd-skipped-related 1 | Bos taurus (Bovine) | PR |
| Q2VWH6 | FEZF2 | Fez family zinc finger protein 2 | Bos taurus (Bovine) | PR |
| A6QNZ0 | ZSCAN26 | Zinc finger and SCAN domain-containing protein 26 | Bos taurus (Bovine) | PR |
| A7MBI1 | ZFP69 | Zinc finger protein 69 homolog | Bos taurus (Bovine) | PR |
| Q08705 | CTCF | Transcriptional repressor CTCF | Gallus gallus (Chicken) | PR |
| O42409 | GFI1B | Zinc finger protein Gfi-1b | Gallus gallus (Chicken) | PR |
| A2T6W2 | ZNF449 | Zinc finger protein 449 | Pan troglodytes (Chimpanzee) | PR |
| Q9U405 | grau | Transcription factor grauzone | Drosophila melanogaster (Fruit fly) | PR |
| Q7K0S9 | sug | Zinc finger protein GLIS2 homolog | Drosophila melanogaster (Fruit fly) | PR |
| P20385 | Cf2 | Chorion transcription factor Cf2 | Drosophila melanogaster (Fruit fly) | PR |
| Q86P48 | ATbp | AT-rich binding protein | Drosophila melanogaster (Fruit fly) | PR |
| P28698 | MZF1 | Myeloid zinc finger 1 | Homo sapiens (Human) | PR |
| Q9NTW7 | ZFP64 | Zinc finger protein 64 | Homo sapiens (Human) | PR |
| P08151 | GLI1 | Zinc finger protein GLI1 | Homo sapiens (Human) | PR |
| Q9UFB7 | ZBTB47 | Zinc finger and BTB domain-containing protein 47 | Homo sapiens (Human) | PR |
| P18146 | EGR1 | Early growth response protein 1 | Homo sapiens (Human) | PR |
| Q9Y5W3 | KLF2 | Krueppel-like factor 2 | Homo sapiens (Human) | PR |
| Q96SZ4 | ZSCAN10 | Zinc finger and SCAN domain-containing protein 10 | Homo sapiens (Human) | PR |
| P57682 | KLF3 | Krueppel-like factor 3 | Homo sapiens (Human) | PR |
| P25490 | YY1 | Transcriptional repressor protein YY1 | Homo sapiens (Human) | SS |
| O43296 | ZNF264 | Zinc finger protein 264 | Homo sapiens (Human) | PR |
| P49711 | CTCF | Transcriptional repressor CTCF | Homo sapiens (Human) | PR |
| Q9NQX1 | PRDM5 | PR domain zinc finger protein 5 | Homo sapiens (Human) | PR |
| Q9HBE1 | PATZ1 | POZ-, AT hook-, and zinc finger-containing protein 1 | Homo sapiens (Human) | PR |
| Q8TAX0 | OSR1 | Protein odd-skipped-related 1 | Homo sapiens (Human) | PR |
| Q8TBJ5 | FEZF2 | Fez family zinc finger protein 2 | Homo sapiens (Human) | PR |
| Q96SR6 | ZNF382 | Zinc finger protein 382 | Homo sapiens (Human) | PR |
| Q9ULJ3 | ZBTB21 | Zinc finger and BTB domain-containing protein 21 | Homo sapiens (Human) | PR |
| O75840 | KLF7 | Krueppel-like factor 7 | Homo sapiens (Human) | PR |
| Q13127 | REST | RE1-silencing transcription factor | Homo sapiens (Human) | PR |
| Q8IZM8 | ZNF654 | Zinc finger protein 654 | Homo sapiens (Human) | PR |
| Q14526 | HIC1 | Hypermethylated in cancer 1 protein | Homo sapiens (Human) | PR |
| Q06889 | EGR3 | Early growth response protein 3 | Homo sapiens (Human) | PR |
| Q08ER8 | ZNF543 | Zinc finger protein 543 | Homo sapiens (Human) | PR |
| Q8N680 | ZBTB2 | Zinc finger and BTB domain-containing protein 2 | Homo sapiens (Human) | PR |
| O95625 | ZBTB11 | Zinc finger and BTB domain-containing protein 11 | Homo sapiens (Human) | PR |
| Q96BV0 | ZNF775 | Zinc finger protein 775 | Homo sapiens (Human) | PR |
| Q5FWF6 | ZNF789 | Zinc finger protein 789 | Homo sapiens (Human) | PR |
| Q05516 | ZBTB16 | Zinc finger and BTB domain-containing protein 16 | Homo sapiens (Human) | PR |
| Q9H116 | GZF1 | GDNF-inducible zinc finger protein 1 | Homo sapiens (Human) | PR |
| Q8IW36 | ZNF695 | Zinc finger protein 695 | Homo sapiens (Human) | PR |
| Q5VTD9 | GFI1B | Zinc finger protein Gfi-1b | Homo sapiens (Human) | PR |
| Q6PG37 | ZNF790 | Zinc finger protein 790 | Homo sapiens (Human) | PR |
| Q9NQV6 | PRDM10 | PR domain zinc finger protein 10 | Homo sapiens (Human) | PR |
| Q9Y2D9 | ZNF652 | Zinc finger protein 652 | Homo sapiens (Human) | PR |
| Q5TC79 | ZBTB37 | Zinc finger and BTB domain-containing protein 37 | Homo sapiens (Human) | PR |
| Q9Y4E5 | ZNF451 | E3 SUMO-protein ligase ZNF451 | Homo sapiens (Human) | PR |
| Q8ND82 | ZNF280C | Zinc finger protein 280C | Homo sapiens (Human) | PR |
| Q49AA0 | ZFP69 | Zinc finger protein 69 homolog | Homo sapiens (Human) | PR |
| O43298 | ZBTB43 | Zinc finger and BTB domain-containing protein 43 | Homo sapiens (Human) | PR |
| Q9Y330 | ZBTB12 | Zinc finger and BTB domain-containing protein 12 | Homo sapiens (Human) | PR |
| Q13105 | ZBTB17 | Zinc finger and BTB domain-containing protein 17 | Homo sapiens (Human) | PR |
| P51508 | ZNF81 | Zinc finger protein 81 | Homo sapiens (Human) | PR |
| Q5JNZ3 | ZNF311 | Zinc finger protein 311 | Homo sapiens (Human) | PR |
| Q9Y4X4 | KLF12 | Krueppel-like factor 12 | Homo sapiens (Human) | PR |
| P10074 | ZBTB48 | Telomere zinc finger-associated protein | Homo sapiens (Human) | PR |
| P17010 | ZFX | Zinc finger X-chromosomal protein | Homo sapiens (Human) | PR |
| Q9H5H4 | ZNF768 | Zinc finger protein 768 | Homo sapiens (Human) | PR |
| Q9Y2L8 | ZKSCAN5 | Zinc finger protein with KRAB and SCAN domains 5 | Homo sapiens (Human) | PR |
| Q86UZ6 | ZBTB46 | Zinc finger and BTB domain-containing protein 46 | Homo sapiens (Human) | PR |
| Q8NCP5 | ZBTB44 | Zinc finger and BTB domain-containing protein 44 | Homo sapiens (Human) | PR |
| P41182 | BCL6 | B-cell lymphoma 6 protein | Homo sapiens (Human) | PR |
| Q9NQX0 | PRDM6 | Putative histone-lysine N-methyltransferase PRDM6 | Homo sapiens (Human) | PR |
| Q9BU19 | ZNF692 | Zinc finger protein 692 | Homo sapiens (Human) | PR |
| Q08AG5 | ZNF844 | Zinc finger protein 844 | Homo sapiens (Human) | PR |
| Q6R2W3 | ZBED9 | SCAN domain-containing protein 3 | Homo sapiens (Human) | PR |
| P98182 | ZNF200 | Zinc finger protein 200 | Homo sapiens (Human) | PR |
| Q9UK11 | ZNF223 | Zinc finger protein 223 | Homo sapiens (Human) | PR |
| O15156 | ZBTB7B | Zinc finger and BTB domain-containing protein 7B | Homo sapiens (Human) | PR |
| Q6ZMS7 | ZNF783 | Zinc finger protein 783 | Homo sapiens (Human) | PR |
| P59923 | ZNF445 | Zinc finger protein 445 | Homo sapiens (Human) | PR |
| Q8N859 | ZNF713 | Zinc finger protein 713 | Homo sapiens (Human) | PR |
| Q99612 | KLF6 | Krueppel-like factor 6 | Homo sapiens (Human) | PR |
| Q8TD17 | ZNF398 | Zinc finger protein 398 | Homo sapiens (Human) | PR |
| P52739 | ZNF131 | Zinc finger protein 131 | Homo sapiens (Human) | PR |
| Q05215 | EGR4 | Early growth response protein 4 | Homo sapiens (Human) | PR |
| Q7Z398 | ZNF550 | Zinc finger protein 550 | Homo sapiens (Human) | PR |
| Q9Y2K1 | ZBTB1 | Zinc finger and BTB domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q96N20 | ZNF75A | Zinc finger protein 75A | Homo sapiens (Human) | PR |
| A1YPR0 | ZBTB7C | Zinc finger and BTB domain-containing protein 7C | Homo sapiens (Human) | PR |
| P24278 | ZBTB25 | Zinc finger and BTB domain-containing protein 25 | Homo sapiens (Human) | PR |
| Q96N38 | ZNF714 | Zinc finger protein 714 | Homo sapiens (Human) | PR |
| Q86YH2 | ZNF280B | Zinc finger protein 280B | Homo sapiens (Human) | PR |
| A6NGD5 | ZSCAN5C | Zinc finger and SCAN domain-containing protein 5C | Homo sapiens (Human) | PR |
| A6NJL1 | ZSCAN5B | Zinc finger and SCAN domain-containing protein 5B | Homo sapiens (Human) | PR |
| O14978 | ZNF263 | Zinc finger protein 263 | Homo sapiens (Human) | PR |
| P17029 | ZKSCAN1 | Zinc finger protein with KRAB and SCAN domains 1 | Homo sapiens (Human) | PR |
| P49910 | ZNF165 | Zinc finger protein 165 | Homo sapiens (Human) | PR |
| Q86XF7 | ZNF575 | Zinc finger protein 575 | Homo sapiens (Human) | PR |
| Q8NAM6 | ZSCAN4 | Zinc finger and SCAN domain-containing protein 4 | Homo sapiens (Human) | PR |
| Q969J2 | ZKSCAN4 | Zinc finger protein with KRAB and SCAN domains 4 | Homo sapiens (Human) | PR |
| Q9UNY5 | ZNF232 | Zinc finger protein 232 | Homo sapiens (Human) | PR |
| Q9NPC7 | MYNN | Myoneurin | Homo sapiens (Human) | PR |
| P17022 | ZNF18 | Zinc finger protein 18 | Homo sapiens (Human) | PR |
| Q6P9G9 | ZNF449 | Zinc finger protein 449 | Homo sapiens (Human) | PR |
| O60304 | ZNF500 | Zinc finger protein 500 | Homo sapiens (Human) | PR |
| Q9NX65 | ZSCAN32 | Zinc finger and SCAN domain-containing protein 32 | Homo sapiens (Human) | PR |
| Q96IT1 | ZNF496 | Zinc finger protein 496 | Homo sapiens (Human) | PR |
| O14771 | ZNF213 | Zinc finger protein 213 | Homo sapiens (Human) | PR |
| O95125 | ZNF202 | Zinc finger protein 202 | Homo sapiens (Human) | PR |
| Q8IWY8 | ZSCAN29 | Zinc finger and SCAN domain-containing protein 29 | Homo sapiens (Human) | PR |
| Q8N0Y2 | ZNF444 | Zinc finger protein 444 | Homo sapiens (Human) | PR |
| Q8NF99 | ZNF397 | Zinc finger protein 397 | Homo sapiens (Human) | PR |
| Q9NWS9 | ZNF446 | Zinc finger protein 446 | Homo sapiens (Human) | PR |
| Q96N95 | ZNF396 | Zinc finger protein 396 | Homo sapiens (Human) | PR |
| Q9UL58 | ZNF215 | Zinc finger protein 215 | Homo sapiens (Human) | PR |
| Q53GI3 | ZNF394 | Zinc finger protein 394 | Homo sapiens (Human) | PR |
| Q9BRR0 | ZKSCAN3 | Zinc finger protein with KRAB and SCAN domains 3 | Homo sapiens (Human) | PR |
| Q6NSZ9 | ZSCAN25 | Zinc finger and SCAN domain-containing protein 25 | Homo sapiens (Human) | PR |
| P17028 | ZNF24 | Zinc finger protein 24 | Homo sapiens (Human) | PR |
| Q63HK3 | ZKSCAN2 | Zinc finger protein with KRAB and SCAN domains 2 | Homo sapiens (Human) | PR |
| Q15776 | ZKSCAN8 | Zinc finger protein with KRAB and SCAN domains 8 | Homo sapiens (Human) | PR |
| O08584 | Klf6 | Krueppel-like factor 6 | Mus musculus (Mouse) | PR |
| Q61164 | Ctcf | Transcriptional repressor CTCF | Mus musculus (Mouse) | PR |
| Q810A1 | Znf18 | Zinc finger protein 18 | Mus musculus (Mouse) | PR |
| Q8BGS3 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Mus musculus (Mouse) | PR |
| Q00899 | Yy1 | Transcriptional repressor protein YY1 | Mus musculus (Mouse) | PR |
| P41183 | Bcl6 | B-cell lymphoma 6 protein homolog | Mus musculus (Mouse) | PR |
| Q9DAI4 | Zbtb43 | Zinc finger and BTB domain-containing protein 43 | Mus musculus (Mouse) | PR |
| O70237 | Gfi1b | Zinc finger protein Gfi-1b | Mus musculus (Mouse) | PR |
| Q99KZ6 | Znf639 | Zinc finger protein 639 | Mus musculus (Mouse) | PR |
| Q9Z1D9 | Znf394 | Zinc finger protein 394 | Mus musculus (Mouse) | PR |
| Q9CXE0 | Prdm5 | PR domain zinc finger protein 5 | Mus musculus (Mouse) | PR |
| P43300 | Egr3 | Early growth response protein 3 | Mus musculus (Mouse) | PR |
| Q9DAU9 | Znf654 | Zinc finger protein 654 | Mus musculus (Mouse) | PR |
| Q9R1Y5 | Hic1 | Hypermethylated in cancer 1 protein | Mus musculus (Mouse) | PR |
| Q8R0T2 | Znf768 | Zinc finger protein 768 | Mus musculus (Mouse) | PR |
| Q9WVG7 | Osr1 | Protein odd-skipped-related 1 | Mus musculus (Mouse) | PR |
| Q8BI73 | Znf775 | Zinc finger protein 775 | Mus musculus (Mouse) | PR |
| Q8VCZ7 | Zbtb7c | Zinc finger and BTB domain-containing protein 7C | Mus musculus (Mouse) | PR |
| Q91VN1 | Znf24 | Zinc finger protein 24 | Mus musculus (Mouse) | PR |
| Q9DB38 | Znf580 | Zinc finger protein 580 | Mus musculus (Mouse) | PR |
| A7KBS4 | Zscan4d | Zinc finger and SCAN domain containing protein 4D | Mus musculus (Mouse) | PR |
| Q91VW9 | Zkscan3 | Zinc finger protein with KRAB and SCAN domains 3 | Mus musculus (Mouse) | PR |
| P10925 | Zfy1 | Zinc finger Y-chromosomal protein 1 | Mus musculus (Mouse) | PR |
| P08046 | Egr1 | Early growth response protein 1 | Mus musculus (Mouse) | PR |
| Q3TTC2 | Yy2 | Transcription factor YY2 | Mus musculus (Mouse) | PR |
| Q3UTQ7 | Prdm10 | PR domain zinc finger protein 10 | Mus musculus (Mouse) | PR |
| Q6P3Y5 | Znf280c | Zinc finger protein 280C | Mus musculus (Mouse) | PR |
| Q9ERU3 | Znf22 | Zinc finger protein 22 | Mus musculus (Mouse) | PR |
| Q8VIG1 | Rest | RE1-silencing transcription factor | Mus musculus (Mouse) | PR |
| Q9Z1D8 | Zkscan5 | Zinc finger protein with KRAB and SCAN domains 5 | Mus musculus (Mouse) | PR |
| Q8BID6 | Zbtb46 | Zinc finger and BTB domain-containing protein 46 | Mus musculus (Mouse) | PR |
| P17012 | Zfx | Zinc finger X-chromosomal protein | Mus musculus (Mouse) | PR |
| Q9WUK6 | Zbtb18 | Zinc finger and BTB domain-containing protein 18 | Mus musculus (Mouse) | PR |
| O35738 | Klf12 | Krueppel-like factor 12 | Mus musculus (Mouse) | PR |
| B2RXC5 | Znf382 | Zinc finger protein 382 | Mus musculus (Mouse) | PR |
| O08900 | Ikzf3 | Zinc finger protein Aiolos | Mus musculus (Mouse) | PR |
| Q5DU09 | Znf652 | Zinc finger protein 652 | Mus musculus (Mouse) | PR |
| Q5RJ54 | Zscan26 | Zinc finger and SCAN domain-containing protein 26 | Mus musculus (Mouse) | PR |
| Q8BLM0 | Klf8 | Krueppel-like factor 8 | Mus musculus (Mouse) | PR |
| Q99JB0 | Klf7 | Krueppel-like factor 7 | Mus musculus (Mouse) | PR |
| Q8R0A2 | Zbtb44 | Zinc finger and BTB domain-containing protein 44 | Mus musculus (Mouse) | PR |
| P20662 | Zfy2 | Zinc finger Y-chromosomal protein 2 | Mus musculus (Mouse) | PR |
| Q80VJ6 | Zscan4c | Zinc finger and SCAN domain containing protein 4C | Mus musculus (Mouse) | PR |
| Q3URS2 | Zscan4f | Zinc finger and SCAN domain containing protein 4F | Mus musculus (Mouse) | PR |
| Q60980 | Klf3 | Krueppel-like factor 3 | Mus musculus (Mouse) | PR |
| Q8K3J5 | Znf131 | Zinc finger protein 131 | Mus musculus (Mouse) | PR |
| Q9Z2K3 | Znf394 | Zinc finger protein 394 | Rattus norvegicus (Rat) | PR |
| Q642B9 | Znf18 | Zinc finger protein 18 | Rattus norvegicus (Rat) | PR |
| B0K011 | Osr1 | Protein odd-skipped-related 1 | Rattus norvegicus (Rat) | PR |
| D3ZUU2 | Gzf1 | GDNF-inducible zinc finger protein 1 | Rattus norvegicus (Rat) | PR |
| B1WBU4 | Zbtb8a | Zinc finger and BTB domain-containing protein 8A | Rattus norvegicus (Rat) | PR |
| Q7TNK3 | Znf24 | Zinc finger protein 24 | Rattus norvegicus (Rat) | PR |
| O35819 | Klf6 | Krueppel-like factor 6 | Rattus norvegicus (Rat) | PR |
| Q9R1D1 | Ctcf | Transcriptional repressor CTCF | Rattus norvegicus (Rat) | PR |
| P43301 | Egr3 | Early growth response protein 3 | Rattus norvegicus (Rat) | PR |
| P08154 | Egr1 | Early growth response protein 1 | Rattus norvegicus (Rat) | PR |
| A0JPL0 | Znf382 | Zinc finger protein 382 | Rattus norvegicus (Rat) | PR |
| Q4KLI1 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Rattus norvegicus (Rat) | PR |
| A1L1J6 | Znf652 | Zinc finger protein 652 | Rattus norvegicus (Rat) | PR |
| Q9SHD0 | ZAT4 | Zinc finger protein ZAT4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0P4X6 | zbtb44 | Zinc finger and BTB domain-containing protein 44 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| A4II20 | egr1 | Early growth response protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6P882 | zbtb8a.2 | Zinc finger and BTB domain-containing protein 8A.2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q567C6 | znf367 | Zinc finger protein 367 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| A7Y7X5 | znf711 | Zinc finger protein 711 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEAEELLLE | GKKALQLARE | PRLGLDLGWN | PSGEGCTQGL | KDVPPEPTRD | ILALKSLPRG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LALGPSLAKE | QRLGVWCVGD | PLQPGLLWGP | LEEESASKEK | GEGVKPRQEE | NLSLGPWGDV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CACEQSSGWT | SLVQRGRLES | EGNVAPVRIS | ERLHLQVYQL | VLPGSELLLW | PQPSSEGPSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TQPGLDKEAA | VAVVTEVESA | VQQEVASPGE | DAAEPCIDPG | SQSPSGIQAE | NMVSPGLKFP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TQDRISKDSQ | PLGPLLQDGD | VDEECPAQAQ | MPPELQSNSA | TQQDPDGSGA | SFSSSARGTQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PHGYLAKKLH | SPSDQCPPRA | KTPEPGAQQS | GFPTLSRSPP | GPAGSSPKQG | RRYRCGECGK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AFLQLCHLKK | HAFVHTGHKP | FLCTECGKSY | SSEESFKAHM | LGHRGVRPFP | CPQCDKAYGT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QRDLKEHQVV | HSGARPFACD | QCGKAFARRP | SLRLHRKTHQ | VPAAPAPCPC | PVCGRPLANQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GSLRNHMRLH | TGEKPFLCPH | CGRAFRQRGN | LRGHLRLHTG | ERPYRCPHCA | DAFPQLPELR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RHLISHTGEA | HLCPVCGKAL | RDPHTLRAHE | RLHSGERPFP | CPQCGRAYTL | ATKLRRHLKS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HLEDKPYRCP | TCGMGYTLPQ | SLRRHQLSHR | PEAPCSPPSV | PSAASEPTVV | LLQAEPQLLD |
| 670 | 680 | 690 | 700 | 710 | |
| THREEEVSPA | RDVVEVTISE | SQEKCFVVPE | EPDAAPSLVL | IHKDMGLGAW | AEVVEVEMGT |