Q9NPP4
SS
Gene name |
NLRC4 |
Protein name |
NLR family CARD domain-containing protein 4 |
Names |
CARD, LRR, and NACHT-containing protein, CED-4-like protein Clan, Caspase recruitment domain-containing protein 12, Ice protease-activating factor, Ipaf |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:58484 |
EC number |
|
Protein Class |
|
Descriptions
Nucleotide-binding and oligomerization domain-like receptor (NLR) proteins oligomerize into multiprotein complexes termed inflammasomes when activated. NLRs constitute a crucial component of the cytosolic immunosurveillance system of mammals by detecting the signature components of pathogens and consequently triggering immune responses. The adenosine diphosphate-mediated interaction between the central nucleotide-binding domain (NBD) and the winged-helix domain (WHD) is critical for stabilizing the closed conformation. In addition, the helical domain HD2 repressively contacts a conserved and functionally important α-helix of the NBD. The C-terminal leucine-rich repeat (LRR) domain is positioned to sterically occlude one side of the NBD domain and consequently sequester NLRC4 in monomeric state. Disruption of ADP-mediated NBD-WHD or NBD-HD2/NBD-LRR interactions resulted in constitutive activation of NLRC4.
Autoinhibitory domains (AIDs)
Target domain |
95-298 (Nucleotide-binding domain, NBD) |
Relief mechanism |
|
Assay |
|
Target domain |
95-298 (Nucleotide-binding domain, NBD) |
Relief mechanism |
|
Assay |
|
Target domain |
95-298 (Nucleotide-binding domain, NBD) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
7 structures for Q9NPP4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6K8J | EM | 330 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-85 | PDB |
| 6MKS | EM | 340 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X/Y/Z/a/b/c/d | 1-96 | PDB |
| 6N1I | EM | 358 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 1-85 | PDB |
| 8FVU | EM | 360 A | B | 1-1024 | PDB |
| 8FW2 | EM | 380 A | A/B/C | 1-1024 | PDB |
| 8FW9 | EM | 446 A | A/B/C | 1-1024 | PDB |
| AF-Q9NPP4-F1 | Predicted | AlphaFoldDB |
740 variants for Q9NPP4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs148696946 CA1602223 RCV000652410 |
30 | W>* | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs755228287 CA1602221 RCV000703380 |
35 | R>H | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000685768 rs1558459158 |
59 | L>missing | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685008 rs1369844308 |
72 | S>missing | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754475682 RCV001055870 CA1602156 |
120 | L>V | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000699609 CA1602154 rs188120749 |
124 | I>T | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1602146 RCV001320876 rs775526806 |
140 | W>* | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001701430 CA1602138 rs113631419 RCV000652416 |
160 | A>T | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000694762 rs1558458397 CA346515858 |
165 | C>S | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057518687 CA16043656 RCV000414888 |
171 | S>F | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573495011 RCV001858853 RCV000997114 CA346515767 COSM353127 |
172 | G>S | lung Periodic fever-infantile enterocolitis-autoinflammatory syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs762280260 COSM442816 RCV001064228 CA1602103 |
219 | Q>* | Periodic fever-infantile enterocolitis-autoinflammatory syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs769709902 RCV000705199 CA44753351 |
282 | E>A | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000521468 CA1602076 rs747147167 RCV001853665 |
288 | R>G | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780335164 RCV000697341 CA1602073 |
291 | G>S | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA230096 RCV000089345 rs199475953 RCV000652408 |
310 | R>* | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000144518 CA170899 rs587777840 VAR_072484 |
337 | T>S | AIFEC; results in a gain of function mutation with constitutive activation of caspase-1 Periodic fever-infantile enterocolitis-autoinflammatory syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000652409 rs1553347334 CA346513761 |
339 | L>I | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA170101 rs587781260 RCV000144517 RCV000434682 VAR_072485 RCV001857479 RCV000132764 |
341 | V>A | AIFEC; results in a gain of function mutation with constitutive activation of caspase-1 Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) Periodic fever-infantile enterocolitis-autoinflammatory syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1687057544 RCV001270834 RCV001587311 |
341 | V>L | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1602045 rs762565505 RCV001298816 |
361 | T>M | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000692040 rs756625023 CA1602029 |
387 | I>T | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001067134 rs1687051722 |
405 | K>R | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000148929 rs606231460 VAR_072645 RCV001227277 CA346058 |
443 | H>P | FCAS4; the mutation increases oligomerization of the NLRC4 protein; results in hyperactivation of caspase-1 with an increase in IL1B protein secretion Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4 [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs765641913 RCV000923633 COSM1407754 CA1602006 COSM79397 |
453 | R>* | ovary large_intestine Periodic fever-infantile enterocolitis-autoinflammatory syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346512381 rs1375814112 RCV000691940 |
492 | R>Q | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1317272776 RCV000660478 COSM574924 CA346512383 |
492 | R>W | lung Periodic fever-infantile enterocolitis-autoinflammatory syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs1687043849 RCV001316911 |
497 | S>missing | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1687040860 RCV001329845 |
517 | C>* | Familial cold autoinflammatory syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000909867 RCV001441723 CA1601950 rs781002536 |
551 | I>F | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000803212 rs781002536 CA1601949 |
551 | I>V | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346511823 RCV000699034 rs1558456920 |
578 | F>L | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1601932 rs763410160 RCV000688756 |
585 | Y>C | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1601908 rs61741169 RCV000652411 |
624 | W>R | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs746204807 RCV002124489 |
757 | D>missing | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001706673 rs149451729 RCV000546624 CA1601808 |
786 | G>V | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1686715407 RCV001202442 |
809 | D>* | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs937306605 CA44739485 RCV000558163 |
809 | D>G | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1254673382 RCV001047216 |
815 | L>missing | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755782497 CA44739450 RCV000698617 |
817 | S>G | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1026050125 RCV001340134 |
854 | D>missing | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000973771 CA1601740 rs145285650 |
876 | N>K | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs544969923 RCV000652415 CA1601730 |
890 | C>R | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001053905 CA346520616 rs989100389 |
917 | W>C | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs61754192 CA1601670 RCV000546974 |
929 | A>S | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs186759526 CA1601660 RCV000705772 |
948 | R>H | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1601639 RCV000652413 rs147896952 |
982 | A>G | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000704206 CA346519221 rs1558441930 |
990 | V>M | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1601629 rs150062306 RCV000705693 |
1011 | D>E | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000652407 rs1438338245 CA346519034 |
1018 | A>T | Periodic fever-infantile enterocolitis-autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1250085568 CA346517209 |
3 | F>L | No |
ClinGen gnomAD |
|
|
rs1373915410 CA346517201 |
4 | I>V | No |
ClinGen TOPMed |
|
|
rs1357365491 CA346517178 |
7 | N>H | No |
ClinGen gnomAD |
|
|
rs745682233 CA1602230 |
9 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374574191 CA1602229 |
9 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1292669425 CA346517157 |
10 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA346517155 rs1292669425 |
10 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1602227 rs749572443 |
14 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA346517109 rs1305977857 |
17 | M>K | No |
ClinGen gnomAD |
|
|
rs777972579 CA1602226 |
19 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA346517088 rs1294896426 |
20 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1359694311 CA346517050 |
25 | D>E | No |
ClinGen TOPMed |
|
|
rs1455980346 CA346517042 |
26 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1159167307 CA346517034 |
28 | F>L | No |
ClinGen gnomAD |
|
|
CA346517025 rs1295653004 |
29 | V>I | No |
ClinGen TOPMed |
|
|
CA346517011 rs1369524385 |
31 | N>H | No |
ClinGen gnomAD |
|
|
CA346517008 rs1181964686 |
31 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA44755358 rs773645495 |
33 | L>V | No |
ClinGen Ensembl |
|
|
rs1452532054 CA346516990 |
34 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA44755316 rs554864659 |
35 | R>C | No |
ClinGen TOPMed |
|
|
CA1602219 rs766783309 |
36 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44755263 rs994496482 |
37 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs375091648 CA44755267 |
37 | E>K | No |
ClinGen Ensembl |
|
|
CA346516972 rs994496482 |
37 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1602218 rs761429797 |
40 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA346516942 rs1348244052 |
42 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346516932 rs1558459227 |
43 | C>G | No |
ClinGen Ensembl |
|
|
rs763554741 CA1602214 |
43 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346516927 COSM3426395 rs1331455587 |
44 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1602212 rs775232842 |
45 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA1602211 rs530065673 |
46 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44755210 rs113286880 |
47 | E>G | No |
ClinGen Ensembl |
|
|
rs759449378 CA1602210 |
48 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1602209 COSM574921 rs774266949 |
49 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1602208 rs538698044 |
50 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA44755195 rs370731439 |
51 | A>T | No |
ClinGen ESP |
|
|
rs778167788 CA1602206 |
55 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769708690 CA1602205 COSM71845 |
56 | H>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA346516836 rs868821926 |
57 | M>I | No |
ClinGen TOPMed |
|
|
rs868821926 CA44755155 |
57 | M>I | No |
ClinGen TOPMed |
|
|
rs1432841980 CA346516843 |
57 | M>V | No |
ClinGen gnomAD |
|
|
CA44755151 rs768372743 |
58 | I>T | No |
ClinGen TOPMed |
|
|
rs925367132 CA44755150 |
59 | L>W | No |
ClinGen TOPMed |
|
|
rs1210714199 CA346516806 |
62 | G>R | No |
ClinGen gnomAD |
|
|
rs545004876 CA1602202 |
67 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201587008 CA1602199 |
70 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346516733 rs1297853554 |
73 | L>V | No |
ClinGen gnomAD |
|
|
COSM1020186 CA346516721 rs549981671 |
74 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA1602198 COSM1020186 rs549981671 |
74 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1426433626 CA346516723 |
74 | K>R | No |
ClinGen gnomAD |
|
|
CA44755089 rs895477895 |
76 | W>C | No |
ClinGen TOPMed |
|
|
CA1602196 rs760312058 |
78 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs763820271 CA1602197 |
78 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs146045395 CA1602194 |
81 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346516676 rs1420607547 |
81 | F>S | No |
ClinGen TOPMed |
|
|
rs1159790411 CA346516663 |
83 | D>H | No |
ClinGen TOPMed |
|
|
CA1602192 rs774464858 |
87 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs202067711 CA1602171 |
88 | S>I | No |
ClinGen 1000Genomes ExAC |
|
|
CA346516628 rs1459428391 |
88 | S>R | No |
ClinGen TOPMed |
|
|
CA346516595 rs1233211061 |
91 | H>N | No |
ClinGen gnomAD |
|
|
CA346516590 rs1351575026 |
91 | H>R | No |
ClinGen gnomAD |
|
|
CA346516585 rs1234089694 |
92 | Q>* | No |
ClinGen TOPMed |
|
|
rs763048071 CA1602170 |
93 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764987185 CA1602168 |
94 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558458628 CA346516556 |
96 | G>V | No |
ClinGen Ensembl |
|
|
CA1602166 rs762060718 |
97 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346516554 rs762060718 |
97 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199475952 CA1602163 |
99 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775273312 CA1602164 |
99 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1602165 rs776749003 |
99 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1602162 rs149157799 |
100 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1184125567 CA346516520 |
102 | A>T | No |
ClinGen gnomAD |
|
|
rs746422994 CA1602161 |
103 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779306819 CA1602160 RCV001311918 |
104 | D>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA44754074 rs959814483 |
108 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA44754027 rs1031872180 |
109 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1426980819 COSM721222 CA346516465 |
110 | H>N | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA346516455 rs1212466702 |
111 | T>N | No |
ClinGen gnomAD |
|
|
CA346516456 rs1433504290 |
111 | T>S | No |
ClinGen TOPMed |
|
|
rs1300595167 CA346516445 |
113 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA44754011 rs977175653 |
118 | Y>H | No |
ClinGen TOPMed |
|
|
rs1227008166 CA346516402 |
119 | P>S | No |
ClinGen gnomAD |
|
|
rs751113492 CA1602155 |
121 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1348307383 CA346516367 |
124 | I>M | No |
ClinGen gnomAD |
|
|
CA346516368 rs188120749 |
124 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346516369 rs188120749 |
124 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758384221 CA1602153 |
125 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968351268 CA44753972 |
125 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1602152 rs750365698 |
126 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1602151 rs369074805 |
127 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369074805 CA1602150 |
127 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346516318 rs776852948 |
132 | S>G | No |
ClinGen ExAC TOPMed |
|
|
rs776852948 CA1602149 |
132 | S>R | No |
ClinGen ExAC TOPMed |
|
|
rs1035132589 CA44753915 |
137 | P>S | No |
ClinGen TOPMed |
|
|
rs1035132589 CA346516258 |
137 | P>T | No |
ClinGen TOPMed |
|
|
CA346516239 rs1406979462 |
138 | V>A | No |
ClinGen gnomAD |
|
|
CA1602144 rs145273174 |
145 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1270650686 CA346516121 |
146 | H>Y | No |
ClinGen gnomAD |
|
|
CA1602143 rs774744413 |
148 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA44753836 rs377088692 |
148 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs572809664 COSM1020184 CA1602141 |
149 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA346515990 rs1212079951 |
155 | N>K | No |
ClinGen TOPMed |
|
|
CA44753814 rs140652022 |
155 | N>S | No |
ClinGen ESP |
|
|
CA346515978 rs1435979058 |
156 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs768406887 CA1602139 |
159 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs200238071 CA1602140 |
159 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1176561773 CA346515891 |
163 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA346515893 rs1176561773 |
163 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1602136 rs758009854 |
164 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1602134 rs778726912 |
165 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA1602128 rs141248470 |
176 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369429630 CA1602129 |
176 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1602126 rs759551435 |
181 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774856648 CA1602125 |
181 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1602122 rs575897563 |
182 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM395972 rs1238035316 CA346515618 |
183 | A>D | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA346515534 rs1391592959 |
189 | G>A | No |
ClinGen gnomAD |
|
|
rs771648968 COSM1020183 CA1602118 |
189 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1427389272 CA346515516 |
190 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1602117 rs745373525 |
190 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184102407 CA346515506 |
191 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA346515511 rs1415226839 |
191 | C>G | No |
ClinGen gnomAD |
|
|
CA1602116 rs757127936 |
192 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484936752 CA346515494 |
192 | K>T | No |
ClinGen gnomAD |
|
|
CA1602114 rs375370365 |
193 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200058841 CA1602112 |
195 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148470482 CA1602113 |
195 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226847353 CA346515423 |
198 | K>Q | No |
ClinGen gnomAD |
|
|
rs767733551 CA1602110 |
200 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346514789 rs1353432993 |
202 | F>L | No |
ClinGen gnomAD |
|
|
CA1602108 rs573520680 |
204 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1602106 rs763335197 |
204 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1602107 rs763335197 |
204 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44753656 rs200612957 |
206 | S>T | No |
ClinGen ESP TOPMed |
|
|
CA16617533 RCV000487229 rs1064795274 |
207 | R>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1183084195 CA346514745 |
210 | G>S | No |
ClinGen TOPMed |
|
|
CA1602105 rs34577313 |
211 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346514719 rs1461102635 |
214 | E>K | No |
ClinGen gnomAD |
|
|
CA346514709 rs1320552928 |
215 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs992667122 CA44753647 |
216 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs533731675 CA44753635 |
224 | P>L | No |
ClinGen 1000Genomes |
|
|
CA346514634 rs1183404038 |
227 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1473763050 CA346514628 |
228 | R>G | No |
ClinGen gnomAD |
|
|
CA346514615 rs367761105 |
229 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346514613 rs1375308560 |
230 | Q>* | No |
ClinGen TOPMed |
|
|
CA1602101 rs771619056 |
232 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346514585 rs1211853306 |
233 | M>I | No |
ClinGen gnomAD |
|
|
CA346514589 rs1267327068 |
233 | M>T | No |
ClinGen gnomAD |
|
|
rs745592375 CA1602100 |
233 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1602099 rs773703186 |
234 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1602098 rs770505969 |
235 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs925653020 CA44753601 |
235 | M>V | No |
ClinGen TOPMed |
|
|
CA44753564 rs780092732 |
240 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs749177011 CA1602097 |
240 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304512133 CA346514533 |
242 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346514526 rs1573494632 |
243 | V>G | No |
ClinGen Ensembl |
|
|
rs979603097 CA44753558 |
245 | F>V | No |
ClinGen gnomAD |
|
|
CA346514502 rs1344051951 |
247 | L>P | No |
ClinGen TOPMed |
|
|
CA346514485 rs1294804351 |
250 | Y>H | No |
ClinGen gnomAD |
|
|
CA346514474 rs1459385148 |
251 | N>S | No |
ClinGen gnomAD |
|
|
rs1160532583 CA346514461 |
253 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA346514448 rs1459225416 |
254 | K>N | No |
ClinGen gnomAD |
|
|
CA346514444 rs1440627760 |
255 | P>S | No |
ClinGen TOPMed |
|
|
rs755842113 CA44753522 |
256 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573494589 CA346514437 |
256 | Q>P | No |
ClinGen Ensembl |
|
|
CA1602094 rs747935539 |
257 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA44753509 rs916856506 |
258 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs557723374 CA1602093 |
260 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1602092 rs755136654 |
261 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751842741 CA1602091 |
261 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs539032542 CA1602089 |
262 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1286617 CA346514358 rs1354596095 |
263 | A>S | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs750900085 CA1602088 |
263 | A>V | No |
ClinGen ExAC |
|
|
rs1573494504 CA346514294 |
268 | N>T | No |
ClinGen Ensembl |
|
|
CA1602087 rs374448922 |
270 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778359794 CA1602086 |
270 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA346514269 rs1451730225 |
271 | F>I | No |
ClinGen TOPMed |
|
|
CA346514258 rs1558458016 |
271 | F>L | No |
ClinGen Ensembl |
|
|
rs1375437918 CA346514239 |
273 | N>Y | No |
ClinGen TOPMed |
|
|
CA1602084 rs140557163 |
274 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149415203 CA346514220 |
274 | M>R | No |
ClinGen ESP gnomAD |
|
|
rs149415203 CA44753462 |
274 | M>T | No |
ClinGen ESP gnomAD |
|
|
CA44753423 rs994248978 |
275 | V>A | No |
ClinGen Ensembl |
|
|
CA1602081 rs770290700 |
277 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346514177 rs748803880 |
278 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748803880 CA1602080 |
278 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346514156 rs1367605401 |
280 | T>I | No |
ClinGen TOPMed |
|
|
CA1602078 rs769709902 |
282 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573494372 CA346514105 |
286 | H>N | No |
ClinGen Ensembl |
|
|
rs1249774497 CA346514094 |
287 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1249774497 CA346514095 |
287 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA346514092 rs1453937196 |
288 | R>Q | No |
ClinGen gnomAD |
|
|
CA1602074 COSM442815 rs747147167 |
288 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA346514087 rs1248736021 |
289 | Q>* | No |
ClinGen gnomAD |
|
|
rs1263371156 CA346514080 |
290 | F>L | No |
ClinGen gnomAD |
|
|
rs758484316 CA1602072 |
292 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA346514066 rs1448691177 |
292 | A>S | No |
ClinGen gnomAD |
|
|
CA346514041 rs1249566806 |
296 | E>D | No |
ClinGen TOPMed |
|
|
CA44753283 rs373430559 |
296 | E>V | No |
ClinGen Ensembl |
|
|
rs1573494293 CA346514038 |
297 | V>E | No |
ClinGen Ensembl |
|
|
rs1573494293 CA346514036 |
297 | V>G | No |
ClinGen Ensembl |
|
|
rs765470694 CA1602070 |
297 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA44753281 rs765470694 |
297 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA346514033 rs1465061859 |
298 | G>E | No |
ClinGen TOPMed |
|
|
rs754428458 CA1602068 |
298 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA44753243 rs889596566 |
302 | E>A | No |
ClinGen gnomAD |
|
|
rs764318350 CA1602067 |
303 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs773809612 CA1602065 |
304 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA346513991 rs1318237137 |
304 | S>N | No |
ClinGen gnomAD |
|
|
CA44753231 rs368788664 |
304 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374259187 CA1602063 |
305 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1602062 rs374259187 |
305 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772722347 CA1602061 |
307 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368415170 CA1602060 |
310 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1602059 rs768275257 |
315 | K>R | No |
ClinGen ExAC |
|
|
rs1371322972 CA346513910 |
317 | L>P | No |
ClinGen gnomAD |
|
|
rs779778729 CA1602056 |
318 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573494131 CA346513903 |
318 | A>V | No |
ClinGen Ensembl |
|
|
rs1442864002 CA346513898 |
319 | E>G | No |
ClinGen gnomAD |
|
|
rs1259384777 CA346513889 |
320 | G>V | No |
ClinGen gnomAD |
|
|
rs1325412719 CA346513872 |
323 | L>F | No |
ClinGen TOPMed |
|
|
CA346513838 rs1274885047 |
327 | K>N | No |
ClinGen gnomAD |
|
|
CA1602053 rs779104105 |
336 | K>* | No |
ClinGen ExAC gnomAD |
|
|
RCV000788693 CA346513770 rs1573494025 |
337 | T>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1298912141 CA346513742 |
342 | V>I | No |
ClinGen gnomAD |
|
|
CA346513718 rs1386618297 |
345 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1386618297 CA346513720 |
345 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA346513697 rs1329489151 |
348 | Q>L | No |
ClinGen TOPMed |
|
|
rs1331116780 CA346513686 |
349 | M>I | No |
ClinGen gnomAD |
|
|
CA346513666 rs1264748950 |
352 | S>N | No |
ClinGen TOPMed |
|
|
CA1602049 COSM1185874 rs753095003 |
358 | T>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753095003 CA1602048 |
358 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA346513594 rs1201450581 |
359 | Q>K | No |
ClinGen TOPMed |
|
|
CA346513571 rs1166830231 |
360 | T>I | No |
ClinGen gnomAD |
|
|
CA1602042 rs750102680 |
362 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764674250 CA1602041 |
364 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA346513530 rs1193792961 |
364 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1252182440 CA346513511 |
365 | T>N | No |
ClinGen gnomAD |
|
|
CA1602040 rs776363259 |
367 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1602039 rs776363259 |
367 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1602036 rs760585755 |
372 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346513431 rs376376670 |
376 | H>N | No |
ClinGen gnomAD |
|
|
rs527884055 CA1602035 |
376 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346513426 rs1281567009 |
376 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs376376670 CA44752972 |
376 | H>Y | No |
ClinGen gnomAD |
|
|
CA1602033 rs779291946 |
378 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746038670 CA1602034 |
378 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057398351 CA44752912 |
379 | K>E | No |
ClinGen TOPMed |
|
|
CA1602032 rs771068538 |
380 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396674852 CA346513385 |
382 | A>P | No |
ClinGen gnomAD |
|
|
rs1460801482 CA346513341 |
385 | D>E | No |
ClinGen gnomAD |
|
|
rs1408462382 COSM1306722 CA346513338 |
386 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs565573487 CA1602028 |
388 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs938626438 CA44752845 |
388 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs781500503 CA1602027 |
392 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346513258 rs1202423981 |
393 | C>R | No |
ClinGen gnomAD |
|
|
rs946928981 CA44752808 |
393 | C>Y | No |
ClinGen Ensembl |
|
|
CA346513242 rs1291012953 |
394 | G>E | No |
ClinGen TOPMed |
|
|
rs1180684646 CA346513207 |
397 | A>G | No |
ClinGen TOPMed |
|
|
rs1271902433 CA346513211 |
397 | A>S | No |
ClinGen gnomAD |
|
|
CA346513190 rs1213619081 |
399 | E>K | No |
ClinGen gnomAD |
|
|
rs750016275 CA1602025 |
401 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA346513171 rs1254507746 |
402 | F>L | No |
ClinGen TOPMed |
|
|
CA346513156 rs1222395575 |
404 | H>Y | No |
ClinGen gnomAD |
|
|
CA1602022 COSM257527 rs144123569 |
409 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA346513068 rs763562442 |
410 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1602021 rs763562442 |
410 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA346513059 rs1368883968 |
411 | Q>P | No |
ClinGen gnomAD |
|
|
CA346513048 rs1325240248 |
412 | D>N | No |
ClinGen gnomAD |
|
|
rs1440115108 CA346513028 |
413 | V>A | No |
ClinGen gnomAD |
|
|
CA346513032 rs1558457556 |
413 | V>M | No |
ClinGen Ensembl |
|
|
rs1161066028 CA346513010 |
415 | S>G | No |
ClinGen gnomAD |
|
|
rs775321395 CA1602019 |
416 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1259190 rs1173871053 CA346512973 |
418 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA346512945 rs1192407746 |
419 | D>E | No |
ClinGen gnomAD |
|
|
CA1602016 rs774352816 |
419 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1602015 rs771262687 |
420 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1279703273 CA346512887 |
424 | T>I | No |
ClinGen gnomAD |
|
|
CA1602013 rs573445459 |
424 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346512871 rs1558457501 |
426 | L>I | No |
ClinGen Ensembl |
|
|
CA44752698 rs972717911 |
428 | C>* | No |
ClinGen Ensembl |
|
|
CA346512830 rs1345939102 |
429 | K>E | No |
ClinGen gnomAD |
|
|
rs748635861 CA1602011 |
431 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs748635861 CA346512791 |
431 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA1602010 rs138520739 |
432 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346512771 rs1309926200 |
434 | R>K | No |
ClinGen TOPMed |
|
|
rs1428460734 CA346512760 |
435 | F>L | No |
ClinGen gnomAD |
|
|
rs1290542567 CA346512764 |
435 | F>Y | No |
ClinGen gnomAD |
|
|
rs1313202320 CA346512733 |
439 | Y>C | No |
ClinGen gnomAD |
|
|
rs541203960 CA44752645 |
440 | K>I | No |
ClinGen gnomAD |
|
|
CA346512716 rs780456558 COSM1020173 |
441 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA44752639 COSM1020173 rs1016994681 |
441 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
RCV000997112 CA346512702 rs1573493407 |
443 | H>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA346512697 rs1269189081 |
444 | K>T | No |
ClinGen TOPMed |
|
|
CA44752627 rs145866130 |
450 | T>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1602005 rs200929188 COSM230479 |
453 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA346512630 rs1213421863 |
454 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1602004 rs763620987 |
455 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA346512587 rs1206027883 |
460 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs754999568 CA44752581 |
461 | S>T | No |
ClinGen Ensembl |
|
|
CA44752569 rs145004380 |
462 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA1602000 rs759603462 |
465 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1602001 rs767556431 |
465 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs774262869 CA1601999 |
467 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA346512544 rs1188543765 |
467 | V>L | No |
ClinGen TOPMed |
|
|
CA346512536 rs1293711835 |
468 | T>I | No |
ClinGen gnomAD |
|
|
CA44752551 rs976710693 |
470 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1373301484 CA346512512 |
472 | G>R | No |
ClinGen gnomAD |
|
|
rs1462120376 CA346512483 |
476 | K>* | No |
ClinGen gnomAD |
|
|
rs763192150 CA1601997 |
477 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1601998 rs766313778 |
477 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs773324965 CA1601996 |
478 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769858042 CA1601995 |
479 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346512455 rs1190571252 |
480 | I>M | No |
ClinGen gnomAD |
|
|
rs369399658 CA44752525 |
480 | I>V | No |
ClinGen Ensembl |
|
|
CA1601994 rs201777650 |
481 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA346512439 rs1257158081 |
483 | I>F | No |
ClinGen gnomAD |
|
|
CA346512412 rs1178000223 |
487 | Y>C | No |
ClinGen gnomAD |
|
|
rs1015025697 CA44752501 |
488 | S>G | No |
ClinGen TOPMed |
|
|
rs780366620 CA1601990 |
489 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346512396 rs1203856404 |
489 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346512397 rs1203856404 |
489 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780366620 CA1601991 |
489 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558457294 CA346512386 |
491 | L>P | No |
ClinGen Ensembl |
|
|
rs1234981264 CA346512375 |
493 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1254728273 CA346512371 |
494 | T>P | No |
ClinGen TOPMed |
|
|
CA1601988 rs748922128 |
494 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1601987 RCV000997111 rs777295321 |
495 | C>Y | No |
ClinGen ClinVar ExAC dbSNP |
|
|
rs1375021467 CA346512359 |
496 | G>R | No |
ClinGen gnomAD |
|
|
CA1601985 rs752239748 |
497 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs754932530 CA1601983 |
499 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA346512317 rs1417607900 |
503 | R>G | No |
ClinGen gnomAD |
|
|
CA1601981 rs766145760 |
504 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1131691947 RCV000492808 CA346512308 |
504 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1023640850 CA44752356 |
505 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA44752337 rs267599355 |
506 | M>I | No |
ClinGen Ensembl |
|
|
CA346512295 rs1421140111 |
506 | M>R | No |
ClinGen gnomAD |
|
|
rs1558457213 CA346512275 |
509 | L>F | No |
ClinGen Ensembl |
|
|
CA1601979 rs199646963 |
510 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776672791 CA346512261 |
511 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA1601977 rs776672791 |
511 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1601978 rs762082592 |
511 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA346512259 rs768764867 |
512 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768764867 CA1601976 |
512 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768764867 CA346512260 |
512 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1601974 rs775999159 |
513 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs761131886 CA1601975 |
513 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1531727 CA346512248 rs1483771516 |
514 | Q>E | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA44752278 rs35653927 |
514 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346512240 rs1199338262 |
515 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1601971 rs779390608 |
517 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769307328 CA1601970 |
518 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1601969 rs747839988 |
520 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780806427 CA1601968 |
521 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1601967 rs142177494 |
522 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763959025 CA1601966 |
523 | I>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000089334 CA230079 rs199475956 |
524 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA1601963 rs377414343 |
524 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1601962 rs766998498 |
525 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs754091990 CA1601961 |
525 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA346512181 rs1386496419 |
525 | K>R | No |
ClinGen TOPMed |
|
|
CA346512177 rs1205556477 |
526 | R>K | No |
ClinGen gnomAD |
|
|
CA1601960 rs369233701 |
527 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346512137 rs1238988622 |
532 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA346512136 rs1238988622 |
532 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA346512103 rs1305029087 |
536 | S>T | No |
ClinGen gnomAD |
|
|
rs1319552496 CA346512063 |
542 | E>G | No |
ClinGen gnomAD |
|
|
CA1601958 rs760757972 |
542 | E>K | No |
ClinGen ExAC |
|
|
rs148732979 CA1601955 |
543 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774546369 CA1601954 COSM1020171 |
544 | E>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1573492756 CA346512048 |
544 | E>D | No |
ClinGen Ensembl |
|
|
CA44752115 rs774546369 |
544 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs774546369 CA1601953 |
544 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1435608592 CA346512046 |
545 | I>V | No |
ClinGen gnomAD |
|
|
rs374300977 CA1601952 |
549 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346512003 rs1377063564 |
551 | I>M | No |
ClinGen gnomAD |
|
|
rs768210830 CA1601948 |
552 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866362919 CA44752013 |
553 | S>F | No |
ClinGen Ensembl |
|
|
rs1180888786 CA346511949 |
559 | I>N | No |
ClinGen TOPMed |
|
|
rs940051181 CA44752010 |
560 | H>Q | No |
ClinGen Ensembl |
|
|
CA346511944 rs1430171696 |
560 | H>R | No |
ClinGen gnomAD |
|
|
rs148632046 CA346511936 |
561 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779676313 CA1601946 |
561 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs778534401 CA1601943 |
562 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs745860165 CA1601944 |
562 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
COSM338720 rs757067045 CA1601942 |
564 | E>D | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1573492668 CA346511920 |
564 | E>Q | No |
ClinGen Ensembl |
|
|
CA346511900 rs1558456981 |
566 | T>I | No |
ClinGen Ensembl |
|
|
rs1343680809 CA346511894 |
567 | S>F | No |
ClinGen gnomAD |
|
|
CA346511898 rs1458320637 |
567 | S>P | No |
ClinGen TOPMed |
|
|
CA1601941 rs754001967 |
568 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs547864535 CA44751983 |
570 | A>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs547864535 CA346511876 |
570 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA346511873 rs1348929585 |
571 | L>P | No |
ClinGen TOPMed |
|
|
rs764296408 CA1601940 |
571 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA44751970 rs377761629 |
572 | S>R | No |
ClinGen ESP TOPMed |
|
|
CA1601938 rs752695860 |
573 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1292117509 CA346511853 |
574 | E>G | No |
ClinGen TOPMed |
|
|
CA1601937 rs767673411 |
575 | F>I | No |
ClinGen ExAC |
|
|
CA346511831 rs759917519 |
577 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1601936 rs759917519 |
577 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs147110662 CA44751938 |
579 | F>S | No |
ClinGen ESP gnomAD |
|
|
CA346511819 rs1370422015 |
579 | F>V | No |
ClinGen TOPMed |
|
|
CA346511810 rs1558456902 |
580 | Q>P | No |
ClinGen Ensembl |
|
|
rs1169672846 CA346511792 |
583 | S>R | No |
ClinGen gnomAD |
|
|
CA1601933 rs763410160 |
585 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346511776 rs1573492536 |
585 | Y>H | No |
ClinGen Ensembl |
|
|
rs373602696 CA44751842 |
588 | S>* | No |
ClinGen ESP TOPMed |
|
|
CA1601931 rs773784182 |
589 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA44751815 rs113124376 |
590 | N>S | No |
ClinGen ESP TOPMed |
|
|
COSM1130798 CA346511736 rs1185365137 |
591 | I>N | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM257526 CA1601928 rs774834511 |
593 | D>N | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1338074895 CA346511703 |
596 | F>L | No |
ClinGen gnomAD |
|
|
rs745745438 CA1601926 |
596 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1177100 CA44751752 rs1028369592 |
598 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1601925 rs778923518 |
598 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346511673 rs1291753489 |
600 | E>* | No |
ClinGen gnomAD |
|
|
CA1601923 rs150950016 |
600 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs756980916 CA1601922 |
601 | H>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000089335 rs199475957 CA230082 |
604 | N>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA1601920 rs756296668 |
607 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1601919 rs571712864 |
608 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755096549 CA1601917 |
609 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1601916 rs751939760 |
611 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA1601915 rs766984217 |
612 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763616041 CA1601914 |
613 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1601913 rs773694234 |
614 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs998759118 CA44751629 |
615 | D>Y | No |
ClinGen TOPMed |
|
|
CA44751620 rs904221352 |
617 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1601912 rs765739640 |
618 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771426890 CA1601909 |
621 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1601910 rs775232592 |
621 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs760207397 CA1601911 |
621 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1601907 rs773908458 |
626 | K>N | No |
ClinGen ExAC |
|
|
CA346511499 rs1281475719 |
627 | A>T | No |
ClinGen gnomAD |
|
|
rs765120218 CA44751574 |
628 | A>G | No |
ClinGen Ensembl |
|
|
rs1440198409 CA346511487 |
629 | E>K | No |
ClinGen gnomAD |
|
|
CA1601906 rs770833707 |
631 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749262817 CA1601905 |
632 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1326605497 CA346511467 |
632 | G>S | No |
ClinGen gnomAD |
|
|
CA346511462 rs1396559252 |
633 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1205315355 CA346511446 |
635 | H>P | No |
ClinGen TOPMed |
|
|
rs1573492224 CA346511437 |
636 | M>T | No |
ClinGen Ensembl |
|
|
CA346511425 rs777502913 |
637 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159949085 CA346511422 |
638 | E>A | No |
ClinGen gnomAD |
|
|
rs748258843 CA1601902 |
638 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44751528 rs267599354 |
638 | E>K | No |
ClinGen Ensembl |
|
|
CA346511406 rs1464761564 |
641 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs751650141 CA1601899 |
645 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs755218343 CA1601900 |
645 | P>S | No |
ClinGen ExAC |
|
|
rs1056856319 CA1601897 |
647 | R>K | No |
ClinGen Ensembl |
|
|
CA346511360 rs1251654234 |
647 | R>S | No |
ClinGen gnomAD |
|
|
rs780334402 CA1601896 |
648 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs780334402 CA44751462 |
648 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA346511335 rs1388902116 |
652 | F>L | No |
ClinGen TOPMed |
|
|
CA1601895 rs758946212 |
655 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs939536265 CA44751457 |
656 | K>T | No |
ClinGen gnomAD |
|
|
rs1286712367 CA346511296 |
657 | Q>E | No |
ClinGen gnomAD |
|
|
CA1601894 rs751001500 |
658 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs183931238 CA1601893 |
662 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346511239 rs1358685708 |
665 | T>R | No |
ClinGen TOPMed |
|
|
CA1601891 rs752225555 |
666 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1601890 rs767195061 |
667 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533005673 CA44751423 RCV000523688 |
667 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA346511228 rs1345585209 |
668 | D>H | No |
ClinGen gnomAD |
|
|
rs1319989105 CA346511191 |
672 | L>F | No |
ClinGen gnomAD |
|
|
rs1417520199 CA346511183 |
673 | N>K | No |
ClinGen gnomAD |
|
|
rs759160311 CA1601889 |
674 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759160311 CA346511179 |
674 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455185320 CA346511161 |
676 | D>E | No |
ClinGen gnomAD |
|
|
rs1173775832 CA346511163 |
676 | D>G | No |
ClinGen gnomAD |
|
|
CA1601888 rs773818828 |
677 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA346511134 rs1573492034 |
680 | L>R | No |
ClinGen Ensembl |
|
|
rs762826149 CA1601886 |
681 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1214050399 CA346511120 |
683 | I>V | No |
ClinGen gnomAD |
|
|
rs773143662 CA1601885 |
684 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs150636128 CA1601883 |
689 | S>N | No |
ClinGen ESP ExAC TOPMed |
|
|
CA346511028 rs1213192023 |
696 | R>K | No |
ClinGen gnomAD |
|
|
rs1573491986 CA346511025 |
697 | C>S | No |
ClinGen Ensembl |
|
|
rs368803351 CA1601882 |
697 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300602571 CA346510991 |
702 | G>E | No |
ClinGen gnomAD |
|
|
rs1573491959 CA346510982 |
703 | S>R | No |
ClinGen Ensembl |
|
|
CA1601880 rs200833216 |
704 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199668764 CA44751311 |
704 | L>P | No |
ClinGen Ensembl |
|
|
rs759655593 CA44751300 |
705 | S>N | No |
ClinGen Ensembl |
|
|
CA346510976 rs1573491930 |
705 | S>R | No |
ClinGen Ensembl |
|
|
CA346510964 rs750904345 |
706 | L>F | No |
ClinGen ExAC |
|
|
CA44751293 rs940270044 |
706 | L>W | No |
ClinGen gnomAD |
|
|
CA346510963 rs1313109069 |
707 | V>I | No |
ClinGen gnomAD |
|
|
rs999568080 CA44751263 |
708 | L>F | No |
ClinGen TOPMed |
|
|
rs756174743 CA44751252 |
708 | L>P | No |
ClinGen Ensembl |
|
|
CA44751230 rs866876591 |
711 | C>G | No |
ClinGen gnomAD |
|
|
rs866876591 CA346510938 |
711 | C>R | No |
ClinGen gnomAD |
|
|
CA1601872 rs759186488 |
716 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs751234221 CA1601871 |
716 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346510877 rs1573491846 |
719 | V>G | No |
ClinGen Ensembl |
|
|
CA346510876 rs1573491837 |
720 | E>K | No |
ClinGen Ensembl |
|
|
CA346510864 rs1190342822 |
721 | A>G | No |
ClinGen gnomAD |
|
|
CA1601870 rs776862990 |
722 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1601868 rs143970368 |
726 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA44751203 rs368585521 |
728 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374591958 CA1601867 |
733 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293619680 CA346510739 |
734 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1293619680 CA346510740 |
734 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs768369359 CA1601864 |
735 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1601863 rs747182267 |
736 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1011520257 CA44751166 |
737 | N>K | No |
ClinGen TOPMed |
|
|
rs539906869 CA1601862 |
738 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745938557 CA44751140 |
744 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1601861 rs772214860 |
744 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778918927 CA1601859 |
746 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA346510580 rs1308472858 |
748 | N>D | No |
ClinGen Ensembl |
|
|
rs1318739482 CA346510570 |
748 | N>K | No |
ClinGen TOPMed |
|
|
rs139962639 CA1601857 COSM110456 |
750 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA44751106 rs549398450 |
750 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1601856 rs147496633 |
752 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382495527 CA346510277 |
754 | G>D | No |
ClinGen TOPMed |
|
|
rs1382495527 CA346510275 |
754 | G>V | No |
ClinGen TOPMed |
|
|
rs746131286 CA1601838 |
755 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs746131286 CA1601837 |
755 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs377447775 CA44742284 |
760 | G>C | No |
ClinGen Ensembl |
|
|
rs943288609 CA44742258 |
764 | N>K | No |
ClinGen gnomAD |
|
|
CA1601834 rs770936408 |
765 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA346510146 rs1344744186 |
766 | T>K | No |
ClinGen TOPMed |
|
|
CA1601832 rs778144161 |
769 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1216088852 CA346510098 |
770 | M>I | No |
ClinGen gnomAD |
|
|
CA346510100 rs1264574917 |
770 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA346510075 rs1355352208 |
773 | I>T | No |
ClinGen gnomAD |
|
|
rs1306511824 CA346510057 |
775 | M>I | No |
ClinGen gnomAD |
|
|
rs756678920 CA1601831 |
776 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs992361336 CA44742231 |
778 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1306267642 CA346510032 |
779 | D>N | No |
ClinGen gnomAD |
|
|
rs745471341 CA1601807 |
787 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1601806 rs202095832 |
790 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202095832 CA44739567 |
790 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1573477687 CA346509660 |
790 | L>V | No |
ClinGen Ensembl |
|
|
rs753274448 CA1601804 |
792 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346509623 rs1558449800 |
793 | M>T | No |
ClinGen Ensembl |
|
|
CA1601803 rs140154587 |
794 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346509591 rs1315222603 |
795 | L>F | No |
ClinGen TOPMed |
|
|
RCV000997110 rs777371970 |
796 | F>missing | No |
ClinVar dbSNP |
|
|
rs1241245832 CA346509572 |
798 | L>V | No |
ClinGen TOPMed |
|
|
rs756073844 CA1601801 |
799 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs752701700 CA1601800 |
800 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs570155916 CA1601798 |
804 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1395516738 CA346509481 |
806 | E>D | No |
ClinGen gnomAD |
|
|
rs1171309070 CA346509414 |
811 | I>V | No |
ClinGen gnomAD |
|
|
CA44739468 rs756798541 |
812 | V>I | No |
ClinGen Ensembl |
|
|
CA346509377 rs1334438675 |
813 | K>Q | No |
ClinGen TOPMed |
|
|
rs763282723 CA1601795 |
815 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346509320 rs1475354613 |
817 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs773132182 CA1601794 |
820 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs769895840 CA1601793 |
820 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1601792 rs762262611 |
822 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs777139826 CA1601791 |
824 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs747331080 CA1601790 |
825 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747331080 CA1601789 |
825 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140366142 CA44739416 |
826 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346509130 rs1416787405 |
828 | V>G | No |
ClinGen TOPMed |
|
|
rs1257862827 CA346509114 |
829 | S>F | No |
ClinGen gnomAD |
|
|
CA346509050 rs1197136016 |
832 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1601786 rs749010294 |
834 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1244254081 CA346508915 |
840 | L>P | No |
ClinGen gnomAD |
|
|
rs1336447376 CA346508912 |
841 | A>P | No |
ClinGen gnomAD |
|
|
rs890321006 CA44808533 |
843 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761890286 CA1601773 |
845 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1340125673 CA346521283 |
846 | N>H | No |
ClinGen gnomAD |
|
|
rs1437032129 CA346521247 |
847 | L>S | No |
ClinGen gnomAD |
|
|
rs1404435960 CA346521165 |
851 | S>N | No |
ClinGen gnomAD |
|
|
CA1601772 rs776762816 |
852 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1159989343 CA346521111 |
853 | L>P | No |
ClinGen gnomAD |
|
|
rs1192302984 CA346521064 |
856 | S>A | No |
ClinGen gnomAD |
|
|
rs761293910 CA1601770 |
861 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761293910 CA346521002 |
861 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1601767 rs773003121 |
869 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769635788 CA1601765 |
870 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1601764 rs747644209 |
871 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs747839624 CA1601746 |
872 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA346520929 rs1219771431 |
872 | I>V | No |
ClinGen gnomAD |
|
|
rs768231950 CA1601744 |
873 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs768231950 CA346520908 |
873 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775961328 CA1601745 |
873 | D>N | No |
ClinGen ExAC |
|
|
CA346520905 rs1168943941 |
874 | R>M | No |
ClinGen gnomAD |
|
|
rs147021864 CA1601739 |
877 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346520872 rs1202987640 |
879 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA346520873 rs1202987640 |
879 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1482137752 CA346520862 |
880 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1601734 rs780229500 |
883 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312985006 CA346520823 |
886 | L>R | No |
ClinGen gnomAD |
|
|
CA346520826 rs768054051 |
886 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs760166121 CA1601731 |
888 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA346520803 rs1573474496 |
889 | G>V | No |
ClinGen Ensembl |
|
|
CA44807787 rs544969923 |
890 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1601728 rs761505468 |
891 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753697675 CA1601726 |
892 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465427671 CA346520773 |
894 | G>D | No |
ClinGen gnomAD |
|
|
CA1601725 rs760231283 |
896 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346520744 rs1167195197 |
898 | S>R | No |
ClinGen gnomAD |
|
|
rs1422238295 CA346520703 |
904 | E>G | No |
ClinGen gnomAD |
|
|
CA1601724 rs774924596 |
905 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA346520697 rs1283568725 |
905 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1601722 rs745846903 |
906 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs199861054 CA1601721 |
907 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346520680 rs1196599498 |
908 | Q>* | No |
ClinGen gnomAD |
|
|
CA346520677 rs1284197058 |
908 | Q>H | No |
ClinGen TOPMed |
|
|
rs111972226 CA44807697 |
908 | Q>R | No |
ClinGen Ensembl |
|
|
CA346520674 rs1377629339 |
909 | L>F | No |
ClinGen TOPMed |
|
|
CA346520668 rs144418059 |
910 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1601718 rs144418059 |
910 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1341500096 CA346520657 |
911 | K>N | No |
ClinGen TOPMed |
|
|
CA1601715 rs752798831 |
914 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs956399293 CA44807633 |
915 | K>Q | No |
ClinGen TOPMed |
|
|
CA44807625 rs989100389 |
917 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1313800784 CA346520619 |
917 | W>* | No |
ClinGen gnomAD |
|
|
rs781165327 CA1601714 |
918 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573474309 RCV000762265 |
920 | T>missing | No |
ClinVar dbSNP |
|
|
CA1601713 rs755498806 |
922 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755498806 CA44807620 |
922 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1601712 rs752131347 |
923 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA346520552 rs1184074630 |
927 | L>F | No |
ClinGen TOPMed |
|
|
CA346519627 rs1489045902 |
928 | G>V | No |
ClinGen gnomAD |
|
|
rs762837794 CA1601669 |
929 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1601667 rs769495454 |
931 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA346519597 rs1558442208 |
933 | K>R | No |
ClinGen Ensembl |
|
|
CA1601666 rs748341490 |
934 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1207835615 CA346519581 |
935 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA44797681 rs532738299 |
936 | L>P | No |
ClinGen Ensembl |
|
|
rs370159371 CA44797671 |
939 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1601664 rs199685258 |
940 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747075901 CA346519538 |
942 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA1601662 rs780334258 |
943 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44797662 rs898392491 |
944 | L>M | No |
ClinGen gnomAD |
|
|
CA346519524 rs898392491 |
944 | L>V | No |
ClinGen gnomAD |
|
|
rs866319817 CA44797658 |
945 | A>V | No |
ClinGen Ensembl |
|
|
CA1601661 rs758911792 |
948 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44797613 rs746876982 |
950 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA346519460 rs1407417889 |
954 | W>R | No |
ClinGen gnomAD |
|
|
rs865864585 CA346519426 |
958 | M>I | No |
ClinGen gnomAD |
|
|
rs865864585 CA44797578 |
958 | M>I | No |
ClinGen gnomAD |
|
|
CA1601656 rs767141072 |
958 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs147026757 CA1601654 |
959 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754672945 CA1601655 |
959 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346519421 rs147026757 |
959 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1316364094 CA346519410 |
961 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346519397 rs1381049091 |
963 | N>D | No |
ClinGen TOPMed |
|
|
rs773034065 CA1601651 |
965 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1601650 rs183406356 |
965 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1601649 rs761511208 |
967 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776629476 CA1601648 |
968 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1601647 rs768981071 |
969 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558442013 CA346519319 |
974 | T>A | No |
ClinGen Ensembl |
|
|
CA1601645 rs373084451 |
975 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA44797547 rs905154739 |
975 | K>Q | No |
ClinGen TOPMed |
|
|
CA44797544 rs945779246 |
975 | K>R | No |
ClinGen Ensembl |
|
|
CA346519307 rs1397767599 |
976 | E>* | No |
ClinGen gnomAD |
|
|
CA1601644 rs775671534 |
976 | E>G | No |
ClinGen ExAC |
|
|
CA346519291 rs1166978531 |
978 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1472895111 CA346519282 |
980 | D>H | No |
ClinGen gnomAD |
|
|
rs772067106 CA1601643 |
981 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs147896952 CA1601641 |
982 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1601642 rs746330139 |
982 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs147896952 CA1601640 |
982 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346519256 rs1573460915 |
984 | V>A | No |
ClinGen Ensembl |
|
|
CA346519260 rs1446400082 |
984 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs552117780 CA1601637 |
986 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA44797500 rs949916813 |
987 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA44797497 rs145432616 |
988 | S>G | No |
ClinGen ESP |
|
|
CA346519234 rs1467856493 |
988 | S>N | No |
ClinGen TOPMed |
|
|
CA346519207 rs1210691209 |
992 | S>P | No |
ClinGen gnomAD |
|
|
CA44797493 rs751230534 |
993 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA346519184 rs1558441900 |
995 | T>S | No |
ClinGen Ensembl |
|
|
rs779555184 CA1601635 |
996 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1245326970 CA346519173 |
997 | L>P | No |
ClinGen gnomAD |
|
|
rs917188499 CA44797486 |
1001 | R>T | No |
ClinGen TOPMed |
|
|
rs372904047 CA1601633 |
1002 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1601632 rs765074900 |
1003 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1180406520 CA346519137 |
1003 | V>I | No |
ClinGen TOPMed |
|
|
CA1601631 rs374967155 |
1009 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346519086 rs1405642427 |
1010 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1601630 rs753658614 |
1011 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA346519070 rs1423457165 |
1012 | L>F | No |
ClinGen gnomAD |
|
|
rs775869664 CA1601627 |
1015 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461219221 CA346519048 |
1015 | I>T | No |
ClinGen TOPMed |
|
|
rs1573460670 CA346519030 |
1018 | A>G | No |
ClinGen Ensembl |
|
|
rs1232702870 CA346519014 |
1020 | K>N | No |
ClinGen gnomAD |
|
|
rs200098511 CA44797468 |
1021 | L>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs772124793 CA1601626 |
1022 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1601625 rs759532938 |
1024 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs759532938 CA346518993 |
1024 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA44797446 rs774537513 |
1025 | A>Y | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q9NPP4
[MIM: 616050]: Autoinflammation with infantile enterocolitis (AIFEC)
An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias. {ECO:0000269|PubMed:25217959, ECO:0000269|PubMed:25217960}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616115]: Familial cold autoinflammatory syndrome 4 (FCAS4)
A form of autoinflammatory syndrome, a rare autosomal dominant systemic disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. {ECO:0000269|PubMed:25385754}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias. {ECO:0000269|PubMed:25217959, ECO:0000269|PubMed:25217960}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of autoinflammatory syndrome, a rare autosomal dominant systemic disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. {ECO:0000269|PubMed:25385754}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| IPAF inflammasome complex | An inflammasome complex that consists of three components, IPAF, NAIP and caspase-1, and includes among its functions the sensing of flagellin derived from Legionella pneumophila, Salmonella typhimurium, Pseudomonas aeruginosa and Shigella flexneri. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| caspase binding | Binding to a caspase family protein. |
| endopeptidase activator activity | Binds to and increases the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. |
| identical protein binding | Binding to an identical protein or proteins. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of cysteine-type endopeptidase activity | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase. |
| activation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process. |
| activation of innate immune response | Any process that initiates an innate immune response. Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. Examples of this process include activation of the hypersensitive response of Arabidopsis thaliana and activation of any NOD or TLR signaling pathway in vertebrate species. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| defense response to bacterium | Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. |
| detection of bacterium | The series of events in which a stimulus from a bacterium is received and converted into a molecular signal. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of interleukin-1 beta production | Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of protein processing | Any process that increases the rate, frequency or extent of protein maturation by peptide bond cleavage. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| pyroptosis | A caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| F1MHT9 | NLRC4 | NLR family CARD domain-containing protein 4 | Bos taurus (Bovine) | SS |
| Q3UP24 | Nlrc4 | NLR family CARD domain-containing protein 4 | Mus musculus (Mouse) | EV |
| F1M649 | Nlrc4 | NLR family CARD domain-containing protein 4 | Rattus norvegicus (Rat) | SS |
| Q9FJB5 | RPP8L3 | Disease resistance RPP8-like protein 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8W3K3 | At1g58400 | Putative disease resistance protein At1g58400 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C646 | RXW24L | Probable disease resistance protein RXW24L | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LRR4 | RPPL1 | Putative disease resistance RPP13-like protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P0C8S1 | RPP8L2 | Probable disease resistance RPP8-like protein 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4J339 | RPP1 | Probable disease resistance protein RPP1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FKZ0 | At5g66910 | Probable disease resistance protein At5g66910 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64790 | At1g61300 | Probable disease resistance protein At1g61300 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22727 | At1g61190 | Probable disease resistance protein At1g61190 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64973 | RPS5 | Disease resistance protein RPS5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P60838 | SUMM2 | Disease resistance protein SUMM2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39214 | RPM1 | Disease resistance protein RPM1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9XIF0 | At1g59780 | Putative disease resistance protein At1g59780 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9T048 | At4g27190 | Disease resistance protein At4g27190 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38834 | RPP13L4 | Disease resistance RPP13-like protein 4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9XGM3 | RPS4 | Disease resistance protein RPS4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64789 | At1g61310 | Probable disease resistance protein At1g61310 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q940K0 | UNI | Disease resistance protein UNI | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O23317 | At4g14610 | Probable disease resistance protein At4g14610 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNFIKDNSRA | LIQRMGMTVI | KQITDDLFVW | NVLNREEVNI | ICCEKVEQDA | ARGIIHMILK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KGSESCNLFL | KSLKEWNYPL | FQDLNGQSLF | HQTSEGDLDD | LAQDLKDLYH | TPSFLNFYPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GEDIDIIFNL | KSTFTEPVLW | RKDQHHHRVE | QLTLNGLLQA | LQSPCIIEGE | SGKGKSTLLQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RIAMLWGSGK | CKALTKFKFV | FFLRLSRAQG | GLFETLCDQL | LDIPGTIRKQ | TFMAMLLKLR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QRVLFLLDGY | NEFKPQNCPE | IEALIKENHR | FKNMVIVTTT | TECLRHIRQF | GALTAEVGDM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TEDSAQALIR | EVLIKELAEG | LLLQIQKSRC | LRNLMKTPLF | VVITCAIQMG | ESEFHSHTQT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TLFHTFYDLL | IQKNKHKHKG | VAASDFIRSL | DHCGDLALEG | VFSHKFDFEL | QDVSSVNEDV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LLTTGLLCKY | TAQRFKPKYK | FFHKSFQEYT | AGRRLSSLLT | SHEPEEVTKG | NGYLQKMVSI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SDITSTYSSL | LRYTCGSSVE | ATRAVMKHLA | AVYQHGCLLG | LSIAKRPLWR | QESLQSVKNT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TEQEILKAIN | INSFVECGIH | LYQESTSKSA | LSQEFEAFFQ | GKSLYINSGN | IPDYLFDFFE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HLPNCASALD | FIKLDFYGGA | MASWEKAAED | TGGIHMEEAP | ETYIPSRAVS | LFFNWKQEFR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TLEVTLRDFS | KLNKQDIRYL | GKIFSSATSL | RLQIKRCAGV | AGSLSLVLST | CKNIYSLMVE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ASPLTIEDER | HITSVTNLKT | LSIHDLQNQR | LPGGLTDSLG | NLKNLTKLIM | DNIKMNEEDA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| IKLAEGLKNL | KKMCLFHLTH | LSDIGEGMDY | IVKSLSSEPC | DLEEIQLVSC | CLSANAVKIL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| AQNLHNLVKL | SILDLSENYL | EKDGNEALHE | LIDRMNVLEQ | LTALMLPWGC | DVQGSLSSLL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KHLEEVPQLV | KLGLKNWRLT | DTEIRILGAF | FGKNPLKNFQ | QLNLAGNRVS | SDGWLAFMGV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| FENLKQLVFF | DFSTKEFLPD | PALVRKLSQV | LSKLTFLQEA | RLVGWQFDDD | DLSVITGAFK |
| LVTA |