Q8IZJ1
SS
Gene name |
UNC5B |
Protein name |
Netrin receptor UNC5B |
Names |
Protein unc-5 homolog 2, Protein unc-5 homolog B, p53-regulated receptor for death and life protein 1, p53RDL1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:219699 |
EC number |
|
Protein Class |
|
Descriptions
The cytoplasmic domains of UNC5b are responsible for its netrin-mediated signaling events in axonal migrations, blood vessel patterning, and apoptosis. In rat UNC5b (O08722), the three domains (ZU5, UPA, and death domains) form a structural supramoldule, thereby locking the ZU5-UPA-DD supramodule in a closed conformation and suppressing the biological activity of UNC5b.
Autoinhibitory domains (AIDs)
Target domain |
541-943 (ZU5-UPA-DD) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
541-943 (ZU5-UPA-DD) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
541-943 (ZU5-UPA-DD) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8IZJ1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IZJ1-F1 | Predicted | AlphaFoldDB |
894 variants for Q8IZJ1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1002764422 CA209729540 |
2 | G>R | No |
ClinGen gnomAD |
|
|
rs775912241 CA5541683 |
4 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377393408 rs1489539644 |
4 | R>W | No |
ClinGen TOPMed |
|
|
CA377393414 rs1304074760 |
5 | S>N | No |
ClinGen gnomAD |
|
|
rs760202575 CA5541685 |
6 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763579521 CA5541686 |
8 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377393434 rs1238440483 |
9 | G>S | No |
ClinGen TOPMed |
|
|
CA377393441 rs61757568 |
10 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5541687 rs61757568 |
10 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5541688 rs61757569 |
10 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1564700959 CA377393475 |
17 | L>F | No |
ClinGen Ensembl |
|
|
rs376078636 CA5541690 |
18 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376078636 CA377393484 |
18 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1017635371 CA209729625 |
19 | W>R | No |
ClinGen Ensembl |
|
|
CA377393496 rs1312672796 |
20 | D>N | No |
ClinGen gnomAD |
|
|
rs1312672796 CA377393498 |
20 | D>Y | No |
ClinGen gnomAD |
|
|
CA5541691 rs369198319 |
21 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5541693 rs746983235 |
22 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924871489 CA209729643 |
23 | L>P | No |
ClinGen Ensembl |
|
|
rs546447428 CA5541694 |
24 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1288024125 CA377393559 |
27 | G>V | No |
ClinGen TOPMed |
|
|
rs539892339 CA5541715 |
28 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539892339 CA5541714 |
28 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1218970201 CA377393574 |
30 | S>A | No |
ClinGen gnomAD |
|
|
CA5541716 rs778712957 |
31 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA377393588 rs1354879913 |
32 | S>N | No |
ClinGen TOPMed |
|
|
CA5541718 rs80333477 |
32 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5541719 rs368026327 |
33 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5541720 rs372337191 |
35 | L>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5541723 rs375618734 |
36 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1265513259 CA377393619 |
37 | D>E | No |
ClinGen gnomAD |
|
|
rs145277949 CA5541724 |
38 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1204704992 CA377393631 |
39 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5541726 rs762704678 |
39 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA5541727 rs766127626 |
40 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1212188773 CA377393646 |
42 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA377393649 rs1490019393 |
42 | A>V | No |
ClinGen Ensembl |
|
|
rs1440844959 CA377393674 |
46 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377393683 rs1364970761 |
48 | P>S | No |
ClinGen gnomAD |
|
|
rs530303058 CA5541732 |
51 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA209771323 rs974991337 |
51 | L>V | No |
ClinGen Ensembl |
|
|
rs1194754683 CA377393714 |
53 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs945821290 CA209771330 |
54 | P>R | No |
ClinGen TOPMed |
|
|
rs548917071 CA209771339 |
56 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776335421 CA209771336 |
56 | D>G | No |
ClinGen gnomAD |
|
|
CA377393739 rs776335421 |
56 | D>V | No |
ClinGen gnomAD |
|
|
rs747312686 COSM427849 CA5541737 |
57 | A>T | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM920073 rs149717066 CA209771356 |
58 | Y>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP |
|
rs936933918 CA209771359 |
59 | I>L | No |
ClinGen TOPMed |
|
|
CA209771362 rs1051151230 |
59 | I>T | No |
ClinGen gnomAD |
|
|
rs868112656 CA209771364 |
62 | N>K | No |
ClinGen Ensembl |
|
|
CA377393816 rs1231763126 |
65 | V>A | No |
ClinGen gnomAD |
|
|
rs781763109 CA5541739 |
66 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892529749 CA209771367 |
66 | E>K | No |
ClinGen Ensembl |
|
|
CA5541740 rs748719389 |
67 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541742 rs566832515 |
68 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566832515 CA5541743 |
68 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375543945 CA5541744 |
68 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375543945 CA377393842 |
68 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5541745 rs774105495 |
70 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5541746 rs904110785 |
70 | R>H | No |
ClinGen TOPMed |
|
|
CA5541749 rs767369791 |
71 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs997128457 CA209771398 |
72 | F>S | No |
ClinGen gnomAD |
|
|
rs372528064 CA5541752 |
74 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1292431144 CA377393915 |
76 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA377393934 rs1394222055 |
78 | Y>H | No |
ClinGen gnomAD |
|
|
CA377393959 rs1390789811 |
80 | K>Q | No |
ClinGen gnomAD |
|
|
CA5541753 rs750523274 |
82 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1413103967 CA377393995 |
83 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199675357 CA5541755 |
84 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1292915753 CA377394004 |
84 | E>K | No |
ClinGen gnomAD |
|
|
CA5541758 rs755281605 |
90 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541757 rs755281605 |
90 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541759 rs748594738 |
91 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777373941 CA5541761 |
92 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1026811858 CA209771429 |
93 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1477971881 CA377394151 |
96 | G>A | No |
ClinGen gnomAD |
|
|
CA5541763 rs770517926 |
96 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209771456 rs745594338 |
98 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541765 rs745594338 |
98 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377394194 rs1173106723 |
100 | A>D | No |
ClinGen gnomAD |
|
|
CA377394204 rs1377286703 |
101 | T>I | No |
ClinGen gnomAD |
|
|
rs775269102 CA5541767 |
102 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140723558 CA5541791 |
103 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774516948 CA5541793 |
104 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5541792 rs766300696 |
104 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546878424 COSM1675325 CA5541794 |
106 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs571880889 CA5541796 |
106 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546878424 CA5541795 |
106 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5541798 rs764579933 |
107 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754242236 CA5541799 |
108 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1458648575 CA377110439 |
109 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs757788257 CA5541800 |
109 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745406974 CA377110473 |
111 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377110476 rs1440725954 |
111 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757943643 CA5541803 |
111 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541802 rs745406974 |
111 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377110479 rs1440725954 |
111 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779677077 CA5541804 |
113 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779677077 CA377110507 |
113 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377110515 rs781042551 |
114 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs781042551 CA5541807 |
114 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768380228 CA5541806 |
114 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1332433715 CA377110522 |
115 | Q>* | No |
ClinGen gnomAD |
|
|
rs1233417938 CA377110539 |
115 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1249978159 CA377110556 |
116 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA594292238 rs1481599419 |
116 | Q>H | No |
ClinGen gnomAD |
|
|
CA377110572 rs1589193201 |
117 | V>G | No |
ClinGen Ensembl |
|
|
rs1424609372 CA377110566 |
117 | V>L | No |
ClinGen gnomAD |
|
|
CA377110579 rs1416066602 |
118 | E>K | No |
ClinGen gnomAD |
|
|
CA377110593 rs1171955373 |
119 | E>K | No |
ClinGen gnomAD |
|
|
rs1440728325 CA377110620 |
120 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA377110613 rs1356752215 COSM1474738 |
120 | L>I | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1371991154 CA377110630 |
121 | F>I | No |
ClinGen gnomAD |
|
|
rs1332359422 CA377110655 |
123 | L>M | No |
ClinGen gnomAD |
|
|
CA377110681 rs1589193253 |
125 | D>A | No |
ClinGen Ensembl |
|
|
rs550670119 CA5541810 |
125 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377110705 rs1589193260 |
128 | C>G | No |
ClinGen Ensembl |
|
|
rs145848832 CA5541812 |
129 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775845085 CA5541813 |
130 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs536700919 CA5541814 |
131 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377110732 rs1475024343 |
132 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5541815 rs764300274 |
133 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA377110758 rs762179296 |
136 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541817 rs762179296 |
136 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765742358 CA5541818 |
136 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141063931 CA5541821 |
142 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA209361829 rs900068933 |
142 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs763912511 CA5541822 |
143 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1231795 rs534856234 CA5541823 |
143 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1213068096 CA377110807 |
144 | A>G | No |
ClinGen gnomAD |
|
|
CA377110805 rs1348629118 |
144 | A>T | No |
ClinGen gnomAD |
|
|
rs780798837 CA5541824 |
145 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1272094339 CA377110821 |
146 | V>A | No |
ClinGen TOPMed |
|
|
CA5541825 rs747949439 |
146 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541826 rs184681996 |
147 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377110824 rs184681996 |
147 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367911914 CA5541827 |
147 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367911914 CA5541828 |
147 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772225167 CA5541829 |
148 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541831 rs545311079 |
149 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5541850 rs374916868 |
152 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377111185 rs374916868 |
152 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA209362142 rs200337007 |
156 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5541852 rs200337007 |
156 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770129501 CA5541853 |
157 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1337421727 CA377111254 |
157 | Q>R | No |
ClinGen gnomAD |
|
|
CA377111274 rs1212309222 |
158 | E>D | No |
ClinGen gnomAD |
|
|
CA377111280 rs1252953876 |
159 | P>S | No |
ClinGen gnomAD |
|
|
rs1181872845 CA377111328 |
163 | E>K | No |
ClinGen gnomAD |
|
|
CA5541854 rs773593946 |
164 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541855 rs773593946 |
164 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377111358 rs1468274978 |
165 | P>L | No |
ClinGen gnomAD |
|
|
CA5541857 rs774876262 |
167 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA377111379 rs1418248817 |
167 | D>N | No |
ClinGen gnomAD |
|
|
rs1009741793 CA209362219 |
168 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs766997109 CA5541859 |
175 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541860 rs138539665 |
175 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138539665 CA377111489 |
175 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377111496 rs1231805816 |
176 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377111508 rs1340655582 COSM1348879 |
177 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs149263868 CA5541863 |
178 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377111534 rs1435596451 |
179 | G>V | No |
ClinGen gnomAD |
|
|
rs374444516 CA5541865 |
180 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5541864 rs757169658 |
180 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1185515736 CA377111552 |
181 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA377111547 rs1185515736 |
181 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1367745661 CA377111580 |
183 | A>V | No |
ClinGen gnomAD |
|
|
CA5541866 rs147356143 |
184 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5541892 rs572333537 |
186 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA209363195 rs200281596 |
191 | E>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA377111826 rs1364581610 |
191 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA209363215 rs201039009 |
192 | D>G | No |
ClinGen Ensembl |
|
|
CA209363202 rs779154338 |
192 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541895 rs779154338 |
192 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377111902 rs772478968 |
195 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541896 rs751771379 |
195 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377111918 rs1384533674 |
197 | T>P | No |
ClinGen gnomAD |
|
|
CA5541899 rs760233593 |
199 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs143415941 CA5541900 |
201 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs998375906 CA209363227 |
201 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1465342771 CA377112013 |
202 | F>C | No |
ClinGen TOPMed |
|
|
rs761560586 CA5541902 |
205 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564345336 CA5541904 |
207 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1188281965 CA377112101 |
208 | H>R | No |
ClinGen TOPMed |
|
|
CA377112147 rs1317244188 |
211 | I>V | No |
ClinGen gnomAD |
|
|
COSM73202 CA5541905 rs762851637 |
213 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs531794055 CA5541906 |
213 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531794055 CA5541907 |
213 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1589195008 CA377112209 |
215 | A>P | No |
ClinGen Ensembl |
|
|
CA5541908 rs756170260 |
216 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs753995814 CA5541910 COSM195736 |
216 | R>H | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs756170260 CA5541909 |
216 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs112144078 CA5541912 |
218 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112144078 CA209363285 |
218 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377112279 rs1292426406 |
220 | T>A | No |
ClinGen gnomAD |
|
|
CA5541914 rs772526957 |
220 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5541915 rs780422821 |
222 | N>I | No |
ClinGen ExAC |
|
|
CA5541916 rs747578766 |
223 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA377112337 rs1589195040 |
224 | T>P | No |
ClinGen Ensembl |
|
|
rs1217354228 CA377112355 |
225 | C>R | No |
ClinGen TOPMed |
|
|
CA377112364 rs199873525 |
226 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541918 rs199873525 |
226 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448062872 CA377112372 |
227 | A>D | No |
ClinGen TOPMed |
|
|
CA377112371 rs1233655874 |
227 | A>S | No |
ClinGen gnomAD |
|
|
rs148686628 CA5541920 |
230 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377112395 rs781650417 |
230 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148686628 CA209363338 |
230 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5541922 rs762649023 |
231 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541923 rs766252646 |
232 | A>V | No |
ClinGen ExAC |
|
|
rs751397139 CA5541924 |
234 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764122864 CA5541926 |
235 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541925 rs759478177 |
235 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541927 rs753946127 |
236 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA377112429 rs1589195096 |
237 | T>P | No |
ClinGen Ensembl |
|
|
rs746252061 CA5541929 |
238 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541930 rs750725596 |
239 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5541931 rs758678759 |
240 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758678759 CA5541932 |
240 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5541934 rs201690824 |
241 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201690824 COSM3686852 CA209363386 |
241 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA5541938 rs183228160 |
242 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs34957097 VAR_052472 CA5541936 |
242 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5541939 rs143653939 |
243 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA209363415 rs369230731 |
244 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs112837792 CA5541942 |
245 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112837792 CA5541941 |
245 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5541959 rs745632266 |
246 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs144196396 CA5541962 |
248 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs775394233 CA5541961 |
248 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377113422 rs1390568069 |
249 | W>* | No |
ClinGen gnomAD |
|
|
CA5541964 rs773362458 |
249 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs969491675 CA209363878 |
250 | S>A | No |
ClinGen Ensembl |
|
|
rs903343589 CA209363892 |
250 | S>C | No |
ClinGen Ensembl |
|
|
rs145424239 CA5541966 |
251 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs561682790 CA209363914 COSM228135 |
255 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
|
rs759963596 CA5541968 |
255 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561682790 CA377113516 |
255 | W>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs561682790 CA377113513 |
255 | W>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1344577915 CA377113544 |
257 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1344577915 CA377113539 |
257 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5541969 rs768004513 |
258 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5541971 rs377701334 |
260 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1223442874 CA377113683 |
260 | N>K | No |
ClinGen TOPMed |
|
|
rs777101426 CA5541972 |
260 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs753370821 CA5541973 |
261 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892820846 CA209363987 |
261 | R>H | No |
ClinGen gnomAD |
|
|
CA5541974 rs756761925 |
264 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528955589 CA5541975 |
264 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5541976 rs745579208 |
266 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs745579208 CA5541977 |
266 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA5541978 rs779830658 |
268 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1413834066 CA377113849 |
268 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746870907 CA5541979 |
269 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5541980 rs371336713 |
269 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5541982 rs763080232 |
270 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763080232 CA5541983 |
270 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM920075 CA5541985 rs759839363 |
271 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs149211819 CA5541984 COSM78747 |
271 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs907166037 CA209364069 |
272 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5541986 rs376265302 |
275 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377113970 rs376265302 |
275 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754370822 CA5541990 |
277 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA5541989 rs566257491 |
277 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201024859 CA5541993 |
281 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs868634720 CA209364120 |
281 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs552032981 CA5541994 |
283 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5541995 rs779728549 |
283 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA209364145 rs370545319 |
285 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM242179 rs781171880 CA5541998 |
286 | E>K | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5541999 rs748046121 |
287 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA377114234 rs1390056507 |
287 | G>S | No |
ClinGen gnomAD |
|
|
CA5542002 rs759786367 |
289 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5542003 rs772404240 |
289 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5542004 rs775618033 |
290 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs753953492 CA209364207 |
293 | T>I | No |
ClinGen TOPMed |
|
|
CA377114369 rs753953492 |
293 | T>N | No |
ClinGen TOPMed |
|
|
CA5542007 rs368023656 |
294 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377114415 rs1276241111 |
296 | T>I | No |
ClinGen gnomAD |
|
|
CA377114419 rs1589195950 |
297 | T>P | No |
ClinGen Ensembl |
|
|
rs920649217 CA209364234 |
298 | I>S | No |
ClinGen Ensembl |
|
|
CA5542010 rs151291345 |
298 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA209364244 rs930661239 |
299 | C>S | No |
ClinGen Ensembl |
|
|
CA5542012 rs749909982 |
300 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5542036 rs544716513 |
302 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542038 rs548022173 |
304 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542040 COSM1348881 rs780005887 |
306 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA377114941 rs1433689893 |
307 | E>K | No |
ClinGen gnomAD |
|
|
CA209365111 rs1045162187 |
307 | E>V | No |
ClinGen TOPMed |
|
|
rs1445450152 CA377115029 |
309 | S>N | No |
ClinGen TOPMed |
|
|
CA377115154 rs1301433757 |
314 | C>R | No |
ClinGen gnomAD |
|
|
CA5542041 rs747217896 |
315 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377115213 rs1255135397 |
316 | T>S | No |
ClinGen gnomAD |
|
|
CA5542043 rs776949132 |
317 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377115235 rs776949132 |
317 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542044 rs371332596 |
319 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377115307 rs1589196596 |
321 | W>G | No |
ClinGen Ensembl |
|
|
rs374075468 CA209365140 |
322 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs770198176 CA5542046 |
322 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs770198176 CA5542045 |
322 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5542047 rs763454665 |
324 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5542048 rs770434031 |
324 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388535929 CA377115428 |
325 | E>D | No |
ClinGen gnomAD |
|
|
CA377115407 rs1157473537 |
325 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA377115468 rs767048181 |
327 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA5542051 rs767048181 |
327 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs200994075 CA5542052 |
328 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542055 rs146944665 |
330 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1350765463 CA377115556 |
330 | P>L | No |
ClinGen gnomAD |
|
|
rs146944665 CA5542056 |
330 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1589196652 CA377115578 |
331 | P>L | No |
ClinGen Ensembl |
|
|
rs780135221 CA5542057 |
331 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA377115625 rs1589196657 |
333 | N>T | No |
ClinGen Ensembl |
|
|
CA377115666 rs1487565068 |
334 | G>E | No |
ClinGen gnomAD |
|
|
CA5542060 rs115883185 |
334 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1209360812 CA377115680 |
335 | G>R | No |
ClinGen gnomAD |
|
|
CA377115700 rs1473730858 |
336 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5542062 rs528466509 |
336 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377115702 rs1473730858 |
336 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA209365278 rs778141431 |
339 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542064 rs749752678 |
340 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377115835 rs34304718 |
341 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542065 COSM3770679 rs34304718 |
341 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5542067 rs758966337 |
342 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5542069 rs538710124 |
344 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542070 rs760413350 |
345 | S>P | No |
ClinGen ExAC |
|
|
rs374428164 CA5542071 |
346 | K>E | No |
ClinGen ESP ExAC TOPMed |
|
|
CA209365329 rs374428164 |
346 | K>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
CA377116087 rs1411347374 |
349 | T>A | No |
ClinGen gnomAD |
|
|
CA377116137 rs1228778554 |
350 | D>E | No |
ClinGen gnomAD |
|
|
CA5542072 rs753711696 |
350 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377116179 rs1319907307 |
353 | C>F | No |
ClinGen gnomAD |
|
|
CA377116220 rs1484122590 |
354 | M>I | No |
ClinGen gnomAD |
|
|
CA377116203 rs1275531157 |
354 | M>R | No |
ClinGen gnomAD |
|
|
rs765078974 CA5542074 |
354 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs775174403 CA5542090 |
356 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs771644982 CA5542089 |
356 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1189788090 CA377116456 |
357 | K>Q | No |
ClinGen gnomAD |
|
|
rs1564511199 CA377116689 |
362 | D>A | No |
ClinGen Ensembl |
|
|
CA377116702 rs1418335091 |
362 | D>E | No |
ClinGen gnomAD |
|
|
rs761496877 CA5542094 |
362 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564511199 CA377116693 |
362 | D>V | No |
ClinGen Ensembl |
|
|
rs1414752747 CA377116720 |
363 | P>R | No |
ClinGen gnomAD |
|
|
CA5542095 rs765089860 |
364 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552655855 CA5542096 |
364 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377116778 rs1193326702 |
365 | S>N | No |
ClinGen gnomAD |
|
|
rs577572162 CA5542097 |
367 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5542116 rs762785091 |
368 | L>Q | No |
ClinGen ExAC TOPMed |
|
|
CA377117786 rs1451709799 |
369 | E>G | No |
ClinGen gnomAD |
|
|
CA5542117 COSM270514 rs766271403 |
374 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA377117984 rs533838225 |
375 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377117961 rs1564512200 |
375 | A>T | No |
ClinGen Ensembl |
|
|
CA5542119 rs533838225 |
375 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542122 rs538475514 |
378 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1414573467 CA377118104 |
379 | G>E | No |
ClinGen gnomAD |
|
|
CA377118151 rs1365183537 |
381 | V>A | No |
ClinGen gnomAD |
|
|
CA5542125 rs368290265 |
381 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA209367362 rs149315614 |
382 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542126 rs149315614 |
382 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542127 rs752123103 |
384 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780781213 CA5542129 |
386 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200761325 CA5542130 |
387 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA209367368 rs983043539 |
388 | V>M | No |
ClinGen TOPMed |
|
|
rs370847162 CA5542132 |
390 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487752200 CA377118355 |
391 | L>F | No |
ClinGen gnomAD |
|
|
CA377118363 rs1287207457 |
391 | L>R | No |
ClinGen gnomAD |
|
|
rs1205444308 CA377118369 |
392 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA209367386 rs941996309 |
392 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA377118390 rs1253641274 |
393 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5542135 rs114541882 |
394 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377118400 rs1214447988 |
395 | G>V | No |
ClinGen TOPMed |
|
|
CA209367456 rs75394689 |
395 | G>W | No |
ClinGen Ensembl |
|
|
rs117156661 CA377118403 |
396 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542140 rs117156661 |
396 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776797400 CA5542139 |
396 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209367502 rs151119566 |
397 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542142 rs151119566 |
397 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542141 rs765469669 |
397 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5542145 rs752068073 |
398 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs766852918 CA5542144 |
398 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542148 rs755560989 |
399 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs755560989 CA5542147 |
399 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA5542149 rs752220193 |
400 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2160751 rs755645184 CA5542150 |
400 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA377118420 rs755645184 |
400 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs554096883 CA5542151 |
401 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554096883 CA5542152 |
401 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542153 rs34447655 |
401 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs554096883 CA377118422 |
401 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377118429 rs1339707698 |
402 | N>T | No |
ClinGen gnomAD |
|
|
rs139601435 CA5542155 |
404 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444011172 CA377118443 |
404 | R>H | No |
ClinGen gnomAD |
|
|
CA5542156 rs139601435 |
404 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542157 rs775331842 |
405 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5542158 rs144216408 |
406 | F>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763294738 CA5542161 |
407 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs151028942 CA5542160 |
407 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1173450274 CA377118533 |
409 | D>V | No |
ClinGen gnomAD |
|
|
CA5542163 rs200000683 |
409 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542164 rs759858044 |
411 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA377118565 rs1413214909 |
411 | T>N | No |
ClinGen gnomAD |
|
|
CA209367609 rs376352556 |
412 | D>N | No |
ClinGen gnomAD |
|
|
rs1366609003 CA377118595 |
413 | S>P | No |
ClinGen gnomAD |
|
|
rs1322826914 CA377118613 |
414 | S>F | No |
ClinGen TOPMed |
|
|
CA5542165 rs768062190 |
414 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA377118634 rs1299265203 |
416 | A>S | No |
ClinGen gnomAD |
|
|
CA209367614 rs200583453 |
416 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs959583786 CA209367616 |
420 | G>V | No |
ClinGen Ensembl |
|
|
rs753200749 CA377118734 |
422 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA209367617 rs1012329341 |
422 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5542167 rs755593813 |
423 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1013739369 CA209367619 |
423 | P>S | No |
ClinGen TOPMed |
|
|
COSM252905 rs140003194 CA5542169 |
424 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs756926106 CA5542170 |
425 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1246264700 CA377118760 |
425 | N>K | No |
ClinGen gnomAD |
|
|
CA5542171 rs576602880 |
425 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542173 rs758196461 |
428 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377118783 COSM1128010 rs1477226391 |
429 | A>T | kidney prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA5542175 rs746922146 |
432 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1230109367 CA377119321 |
433 | N>S | No |
ClinGen gnomAD |
|
|
rs771191110 CA377119326 |
434 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs149840545 CA5542197 |
434 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542196 rs771191110 |
434 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA377119351 rs1589199130 |
438 | H>P | No |
ClinGen Ensembl |
|
|
CA377119354 rs1222056570 |
438 | H>Q | No |
ClinGen gnomAD |
|
|
CA377119349 rs1357479793 |
438 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA377119361 rs1382329206 |
439 | P>L | No |
ClinGen gnomAD |
|
|
rs777192902 CA5542203 |
440 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs764743819 CA5542205 |
441 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA377119379 rs1589199156 |
443 | P>S | No |
ClinGen Ensembl |
|
|
rs1589199160 CA377119399 |
444 | D>A | No |
ClinGen Ensembl |
|
|
rs1424963170 CA377119406 |
444 | D>E | No |
ClinGen gnomAD |
|
|
CA377119418 rs1589199170 |
446 | T>P | No |
ClinGen Ensembl |
|
|
CA377119426 rs1164782341 |
446 | T>R | No |
ClinGen gnomAD |
|
|
CA377119461 rs141795100 |
449 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542206 rs141795100 |
449 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1162568962 CA377119468 |
449 | A>V | No |
ClinGen gnomAD |
|
|
CA377119471 rs1411403890 |
450 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA377119485 rs1485236280 |
451 | I>V | No |
ClinGen TOPMed |
|
|
rs147084648 CA5542209 |
453 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542210 rs142562308 |
453 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542211 rs142562308 |
453 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs917005570 CA209369076 |
454 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs536140852 CA377119544 |
456 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536140852 CA5542214 |
456 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542215 rs147596189 |
458 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369571063 CA209369100 |
459 | L>M | No |
ClinGen ESP TOPMed |
|
|
rs1311008243 CA377119590 |
460 | Q>* | No |
ClinGen gnomAD |
|
|
rs201117786 CA5542216 |
460 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542217 rs754862080 |
461 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5542218 rs747332998 |
462 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311002313 CA377119622 |
462 | S>F | No |
ClinGen gnomAD |
|
|
rs777068248 CA5542220 |
464 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209369192 rs1046619061 |
465 | K>E | No |
ClinGen gnomAD |
|
|
CA5542221 rs762336258 |
466 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539472940 CA5542222 |
467 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1167987842 CA377119704 |
468 | M>L | No |
ClinGen gnomAD |
|
|
rs1167987842 CA377119701 |
468 | M>V | No |
ClinGen gnomAD |
|
|
CA5542223 rs772572699 |
469 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs868503579 CA209369207 |
470 | N>K | No |
ClinGen Ensembl |
|
|
CA5542226 rs751281937 |
470 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200001607 CA5542227 |
471 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767423548 CA5542228 |
472 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs756143939 CA5542230 |
475 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs894027863 CA209369235 |
476 | P>S | No |
ClinGen TOPMed |
|
|
CA377119856 rs1589199432 |
477 | L>F | No |
ClinGen Ensembl |
|
|
CA377119914 rs1470633626 |
479 | S>R | No |
ClinGen gnomAD |
|
|
rs374157238 CA5542232 |
482 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374157238 CA5542233 |
482 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780129210 CA5542234 |
485 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA5542235 rs375741576 |
487 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA209369261 rs994592405 |
488 | S>C | No |
ClinGen Ensembl |
|
|
CA5542236 rs768946530 |
489 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543519250 CA209369264 COSM195741 |
490 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
CA5542238 rs112205244 |
493 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377120292 rs1418401964 |
499 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1178399008 CA377120326 |
500 | A>G | No |
ClinGen gnomAD |
|
|
CA5542240 rs542098916 |
500 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377120318 rs542098916 |
500 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA209369281 rs542098916 |
500 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377120340 rs1332784397 |
501 | D>E | No |
ClinGen gnomAD |
|
|
rs770485553 CA5542242 |
501 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542243 rs773807591 |
503 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs759292817 CA5542244 |
504 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5542245 rs201668410 |
505 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1435277749 CA377120431 |
507 | P>L | No |
ClinGen gnomAD |
|
|
rs868618153 CA209369310 |
507 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA377120435 rs1323368074 |
508 | P>S | No |
ClinGen gnomAD |
|
|
rs775403626 CA5542246 |
510 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA377120490 rs1448192427 |
511 | Y>D | No |
ClinGen gnomAD |
|
|
rs1589199658 CA377120494 |
511 | Y>S | No |
ClinGen Ensembl |
|
|
CA377120508 rs1213096018 |
512 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA377120517 rs1241145768 |
513 | S>I | No |
ClinGen gnomAD |
|
|
CA377120518 rs1241145768 |
513 | S>N | No |
ClinGen gnomAD |
|
|
CA377120527 rs202076199 |
514 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542247 rs202076199 |
514 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA209369328 rs951310094 |
515 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5542251 rs10509332 |
516 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs10509332 VAR_019730 CA5542250 |
516 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs549908278 CA5542253 |
517 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376922648 COSM132778 CA5542252 |
517 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs989562488 CA209369370 |
518 | D>Y | No |
ClinGen Ensembl |
|
|
CA5542254 rs781430815 |
519 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA209369380 rs781430815 |
519 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5542257 rs756557642 |
520 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA377120627 rs1564513058 |
520 | H>R | No |
ClinGen Ensembl |
|
|
rs1286627653 CA377120622 |
520 | H>Y | No |
ClinGen TOPMed |
|
|
rs370243063 CA377120680 |
523 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542259 rs370243063 |
523 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377120706 rs1290733313 |
524 | L>R | No |
ClinGen gnomAD |
|
|
COSM273442 rs372810875 CA5542261 |
525 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM920078 CA5542262 rs771820696 |
525 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775350591 CA377120738 |
526 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376097676 CA5542264 |
527 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376097676 CA5542265 |
527 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542267 rs761845735 |
530 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234517293 CA377120822 COSM1702603 |
532 | Q>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA5542269 rs765132326 |
533 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542270 rs755115425 |
534 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs535702705 CA5542272 |
535 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542273 rs370969984 |
536 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1638633 rs201015405 CA209369468 |
538 | P>S | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
|
CA377120864 rs749708999 |
539 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5542275 rs749708999 |
539 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs142597083 CA377120866 |
539 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542276 rs142597083 |
539 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542277 rs779603754 |
541 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557689912 CA5542278 |
542 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1289107912 CA377120888 |
543 | S>N | No |
ClinGen gnomAD |
|
|
CA377120894 rs1346079024 |
544 | S>G | No |
ClinGen TOPMed |
|
|
CA5542281 COSM1638634 rs537143367 |
545 | V>I | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA377120909 rs1362081240 |
546 | S>N | No |
ClinGen TOPMed |
|
|
CA377120912 rs374710244 |
546 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776460633 CA209369495 |
547 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA5542283 rs776460633 |
547 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs769712226 CA5542285 |
548 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1384844673 CA377120934 |
550 | G>D | No |
ClinGen gnomAD |
|
|
rs1564513213 CA377120948 |
552 | L>P | No |
ClinGen Ensembl |
|
|
CA377120961 rs767586535 |
554 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs767586535 CA5542288 |
554 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1169954529 CA377120958 |
554 | G>R | No |
ClinGen gnomAD |
|
|
rs367671574 CA5542289 |
555 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367671574 CA5542290 |
555 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764273504 CA5542291 |
556 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5542292 rs150945696 |
558 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371846529 CA209369557 |
558 | I>N | No |
ClinGen ESP |
|
|
CA377120986 rs1381499898 |
559 | P>A | No |
ClinGen gnomAD |
|
|
rs977364814 CA209369570 |
559 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs977364814 CA377120989 |
559 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5542294 rs180703790 |
560 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542313 rs759001409 |
563 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs186695307 CA5542314 |
565 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA209370009 rs186695307 |
565 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5542315 rs751073316 |
567 | V>M | No |
ClinGen ExAC |
|
|
rs111345852 CA5542316 |
569 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780837942 CA5542317 |
570 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs769537318 CA5542319 |
572 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA377121183 rs1303477002 |
574 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5542320 rs376724658 |
575 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1347191276 CA377121191 |
575 | G>R | No |
ClinGen gnomAD |
|
|
rs1160936208 CA377121199 |
576 | K>R | No |
ClinGen gnomAD |
|
|
rs749130270 CA5542321 |
577 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs770825448 CA377121216 |
578 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1589200921 CA377121214 |
578 | Y>C | No |
ClinGen Ensembl |
|
|
CA5542323 rs756568480 |
579 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542324 rs747099651 |
581 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1350155758 CA377121247 |
583 | L>F | No |
ClinGen gnomAD |
|
|
rs1390137716 CA377121255 |
584 | I>T | No |
ClinGen TOPMed |
|
|
rs202229568 CA209370067 |
584 | I>V | No |
ClinGen 1000Genomes |
|
|
CA377121268 rs1489955530 |
586 | K>Q | No |
ClinGen gnomAD |
|
|
CA5542328 rs765651815 |
589 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1589200972 CA377121296 |
590 | T>P | No |
ClinGen Ensembl |
|
|
rs910753771 CA209370110 |
591 | L>P | No |
ClinGen Ensembl |
|
|
CA5542360 rs201202662 |
592 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542363 rs758249536 |
593 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462211325 CA377121589 |
595 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748220792 CA5542365 |
597 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA377121599 rs1589202267 |
597 | T>P | No |
ClinGen Ensembl |
|
|
rs1284940084 CA377121608 |
598 | Q>R | No |
ClinGen gnomAD |
|
|
CA5542366 rs539148007 |
599 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5542367 rs778071730 |
600 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1168139405 CA377121628 |
601 | L>F | No |
ClinGen gnomAD |
|
|
CA5542368 rs749550210 |
602 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351717223 CA377121639 |
603 | P>H | No |
ClinGen Ensembl |
|
|
CA377121647 rs1470266228 |
604 | S>L | No |
ClinGen gnomAD |
|
|
CA377121680 rs1404037685 |
608 | G>R | No |
ClinGen gnomAD |
|
|
CA5542373 rs142270773 |
611 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1251940374 CA377121749 |
614 | L>P | No |
ClinGen TOPMed |
|
|
rs151335269 CA5542374 |
616 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542375 rs763600986 |
616 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209371026 rs997790330 |
617 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA377121806 rs1332809692 |
618 | V>A | No |
ClinGen TOPMed |
|
|
CA5542378 rs764993379 |
618 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542379 rs369676330 |
619 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA209371063 rs369676330 |
619 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542380 rs373857852 |
620 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377121896 rs1564514085 |
623 | P>L | No |
ClinGen Ensembl |
|
|
rs1262226411 CA377121920 |
624 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs751544453 COSM685447 CA5542382 |
627 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA377122000 rs1475429853 |
628 | V>D | No |
ClinGen TOPMed |
|
|
rs147710785 CA5542383 |
631 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147710785 CA5542384 |
631 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542385 rs142079000 COSM3782552 |
631 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA377122064 rs1160013139 |
632 | D>E | No |
ClinGen gnomAD |
|
|
CA5542389 rs771026584 |
633 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA5542388 rs771026584 |
633 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs772500205 CA5542391 |
635 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs775910950 CA5542392 |
636 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589202520 CA377122183 |
639 | T>P | No |
ClinGen Ensembl |
|
|
CA377122215 rs1257694457 |
641 | A>V | No |
ClinGen TOPMed |
|
|
CA377122242 rs1281906464 |
643 | Q>R | No |
ClinGen gnomAD |
|
|
CA377122269 rs768112292 |
645 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs768112292 CA5542394 |
645 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1218058081 CA377122265 |
645 | H>Y | No |
ClinGen gnomAD |
|
|
rs762801680 CA5542415 |
648 | E>D | No |
ClinGen ExAC |
|
|
CA5542414 rs149681142 |
648 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542416 rs149681142 |
648 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1234572603 CA377122376 |
649 | V>A | No |
ClinGen gnomAD |
|
|
CA5542417 rs772695209 |
649 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766176669 CA5542420 |
651 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs911039980 CA209371308 |
652 | L>R | No |
ClinGen TOPMed |
|
|
CA377122406 rs1446685977 |
652 | L>V | No |
ClinGen gnomAD |
|
|
rs576879564 CA209371311 |
653 | D>Y | No |
ClinGen Ensembl |
|
|
rs1479011578 CA377122458 |
655 | E>D | No |
ClinGen TOPMed |
|
|
CA377122468 rs1236048093 |
656 | T>N | No |
ClinGen gnomAD |
|
|
rs767558367 CA5542423 |
657 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377122500 rs1443924647 |
659 | T>A | No |
ClinGen gnomAD |
|
|
CA377122508 rs1307899198 |
659 | T>K | No |
ClinGen gnomAD |
|
|
CA377122519 rs1247750223 |
660 | P>L | No |
ClinGen gnomAD |
|
|
CA377122514 rs1382998026 |
660 | P>S | No |
ClinGen gnomAD |
|
|
CA377122525 rs1312598060 |
661 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs757225964 CA5542425 |
662 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377122557 rs1275014798 |
663 | C>F | No |
ClinGen gnomAD |
|
|
CA377122586 rs1198023919 |
665 | L>P | No |
ClinGen gnomAD |
|
|
rs372400301 CA5542427 |
666 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377122604 rs1462791270 |
667 | P>S | No |
ClinGen gnomAD |
|
|
rs1181943300 CA377122624 |
668 | R>S | No |
ClinGen gnomAD |
|
|
CA5542428 rs561651915 |
669 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780301033 CA5542429 |
670 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1417905456 CA377122676 |
672 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1170069907 CA377122672 |
672 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1465577620 CA377122701 |
675 | D>Y | No |
ClinGen gnomAD |
|
|
CA377122723 rs755399346 |
676 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542430 rs747358283 |
676 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1219314626 CA377122719 |
676 | Q>R | No |
ClinGen TOPMed |
|
|
CA377122765 rs1564514371 |
680 | Y>C | No |
ClinGen Ensembl |
|
|
CA5542434 rs35766388 |
681 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748800418 CA5542436 |
683 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255729539 CA377122801 |
685 | E>G | No |
ClinGen gnomAD |
|
|
CA5542439 rs759337985 |
685 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs141083007 CA5542441 |
686 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1195704807 CA377122805 |
686 | S>T | No |
ClinGen gnomAD |
|
|
CA5542443 rs763976725 |
689 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144792154 CA5542444 |
689 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144792154 CA5542445 |
689 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470663562 CA377122839 |
692 | V>I | No |
ClinGen gnomAD |
|
|
rs766580585 CA5542446 |
693 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781646048 CA5542449 |
694 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542448 rs368930987 |
694 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212815377 CA377122857 |
695 | L>F | No |
ClinGen TOPMed |
|
|
CA5542451 rs756624737 |
697 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778203394 CA5542452 |
698 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542454 rs141426412 |
699 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763647885 CA5542455 |
700 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542458 rs551142023 |
701 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542457 rs551142023 COSM920081 |
701 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
COSM920082 rs764059399 CA209371492 |
701 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA377122893 rs760434239 |
702 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs760434239 CA5542459 |
702 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs776495244 CA5542462 |
703 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542461 rs776495244 |
703 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751544907 CA5542464 |
704 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376604014 CA377122904 |
704 | L>R | No |
ClinGen gnomAD |
|
|
CA377122915 rs1589203406 |
706 | T>P | No |
ClinGen Ensembl |
|
|
CA377122925 rs1159915936 |
707 | S>C | No |
ClinGen gnomAD |
|
|
CA377122930 rs1418857847 |
708 | L>P | No |
ClinGen gnomAD |
|
|
CA377122935 rs1303535123 |
709 | E>A | No |
ClinGen gnomAD |
|
|
CA377122944 rs1564514511 |
710 | Y>C | No |
ClinGen Ensembl |
|
|
rs1589203436 CA377122942 |
710 | Y>D | No |
ClinGen Ensembl |
|
|
CA5542470 rs754410291 |
713 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375848733 CA5542468 |
713 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208822753 CA377122965 |
714 | V>L | No |
ClinGen TOPMed |
|
|
CA5542471 rs756777970 |
715 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589203508 CA377122990 |
717 | L>R | No |
ClinGen Ensembl |
|
|
rs1010656666 CA209371611 |
718 | E>V | No |
ClinGen TOPMed |
|
|
CA5542473 rs745409697 |
719 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA377123009 rs1487764172 |
720 | T>M | No |
ClinGen gnomAD |
|
|
rs1419139558 CA377123017 |
722 | V>I | No |
ClinGen gnomAD |
|
|
CA209371625 rs753931456 |
723 | A>T | No |
ClinGen Ensembl |
|
|
rs138637718 CA5542476 |
724 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377123746 rs1203821533 |
727 | V>L | No |
ClinGen gnomAD |
|
|
rs1482074449 CA377123785 |
730 | L>P | No |
ClinGen gnomAD |
|
|
CA209373167 rs760838040 |
732 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542502 rs760838040 |
732 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542501 rs775733714 |
732 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377123814 rs1353815911 |
733 | T>A | No |
ClinGen gnomAD |
|
|
CA5542503 rs764450530 |
733 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5542506 rs762325012 |
735 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762325012 CA5542505 |
735 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542508 rs757863448 |
736 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377123847 rs757863448 |
736 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765824684 CA5542509 |
737 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA377123858 rs1357581675 |
737 | Y>H | No |
ClinGen gnomAD |
|
|
rs1289774524 CA377123882 |
738 | L>F | No |
ClinGen gnomAD |
|
|
rs1589206441 CA377123894 |
739 | V>G | No |
ClinGen Ensembl |
|
|
rs61749231 CA5542510 |
739 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542511 rs754569129 |
741 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542512 rs370515915 |
742 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542515 rs554162045 |
744 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377123961 rs554162045 |
744 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1182565854 CA377123965 |
745 | L>V | No |
ClinGen TOPMed |
|
|
CA377123983 rs1470420289 |
746 | M>T | No |
ClinGen TOPMed |
|
|
CA5542517 rs772150969 |
748 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA377124007 rs1589206538 |
748 | K>N | No |
ClinGen Ensembl |
|
|
rs1260988796 CA377124026 |
750 | S>N | No |
ClinGen gnomAD |
|
|
CA5542519 rs747160658 |
752 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA377124048 rs1589206586 |
753 | N>D | No |
ClinGen Ensembl |
|
|
rs1589206595 CA377124049 |
753 | N>T | No |
ClinGen Ensembl |
|
|
CA5542520 COSM166872 rs768985129 |
755 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs777056945 CA5542521 |
755 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542523 rs770291849 |
756 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs990753477 CA209373223 |
757 | S>F | No |
ClinGen gnomAD |
|
|
CA377124071 rs990753477 |
757 | S>Y | No |
ClinGen gnomAD |
|
|
CA377124073 rs1418253977 |
758 | L>F | No |
ClinGen gnomAD |
|
|
CA5542525 rs377313150 |
759 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377124098 rs1224854061 |
760 | D>N | No |
ClinGen TOPMed |
|
|
rs138790836 CA5542527 |
762 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766963850 CA5542526 |
762 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5542528 rs149358428 |
763 | H>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1218188955 CA377124140 |
763 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5542529 rs767091653 |
765 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377124188 rs1355411770 |
768 | S>R | No |
ClinGen gnomAD |
|
|
CA209373232 rs907693427 |
769 | K>R | No |
ClinGen Ensembl |
|
|
CA5542530 rs752361699 |
771 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs777576500 CA5542532 |
772 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs142203538 CA377124223 |
774 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs940116093 CA209373233 |
774 | Y>H | No |
ClinGen gnomAD |
|
|
rs1355498021 CA377124255 |
777 | I>V | No |
ClinGen gnomAD |
|
|
CA377124265 rs1215120790 |
778 | P>L | No |
ClinGen gnomAD |
|
|
rs1554811228 RCV000598638 |
779 | F>missing | No |
ClinVar dbSNP |
|
|
rs771341698 CA5542561 |
780 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377124283 rs1198156454 |
781 | H>Y | No |
ClinGen gnomAD |
|
|
CA209373708 rs963313090 |
784 | S>I | No |
ClinGen Ensembl |
|
|
rs1589207685 CA377124325 |
786 | S>R | No |
ClinGen Ensembl |
|
|
rs1177874562 CA377124330 |
787 | Q>R | No |
ClinGen TOPMed |
|
|
rs774674798 CA5542562 |
788 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5542563 rs746406364 |
789 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377124342 COSM137544 rs746406364 |
789 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs772608927 CA5542564 |
790 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377124347 rs772608927 |
790 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs983888699 CA209373724 |
791 | H>R | No |
ClinGen TOPMed |
|
|
CA377124367 rs1196437842 |
793 | T>A | No |
ClinGen gnomAD |
|
|
rs34628306 CA5542566 |
793 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145620917 CA5542567 |
794 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542568 rs776350371 |
798 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs761454103 CA5542569 |
799 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5542570 rs765100068 |
801 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377124425 rs750342196 |
802 | A>P | No |
ClinGen ExAC TOPMed |
|
|
CA5542571 rs750342196 |
802 | A>S | No |
ClinGen ExAC TOPMed |
|
|
COSM1702605 CA377124424 rs750342196 |
802 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA377124433 rs1400439280 |
803 | S>C | No |
ClinGen gnomAD |
|
|
CA5542572 rs758376962 |
804 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA377124438 rs1338340571 |
804 | T>R | No |
ClinGen gnomAD |
|
|
CA5542573 rs766486209 |
805 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs147300714 CA5542574 |
806 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542575 rs756226204 |
806 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5542578 rs757521953 |
811 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA209373783 rs370153366 |
812 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542580 rs370153366 |
812 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201631634 CA377124550 |
813 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201631634 CA5542582 |
813 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542581 rs367900241 |
813 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142400365 CA5542583 |
815 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542585 rs200621956 |
816 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5542587 rs374078726 |
817 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764835096 CA5542588 |
818 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA5542590 rs773131647 |
818 | E>G | No |
ClinGen ExAC TOPMed |
|
|
rs773131647 CA5542591 |
818 | E>V | No |
ClinGen ExAC TOPMed |
|
|
CA5542592 rs151177894 |
819 | G>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs140171403 CA5542599 |
820 | Q>H | No |
ClinGen ESP TOPMed |
|
|
CA377124641 rs1564515922 |
820 | Q>P | No |
ClinGen Ensembl |
|
|
rs766356495 CA5542602 |
821 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA5542603 rs113166461 |
821 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542604 rs756100013 |
822 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1272006824 CA377124675 |
822 | F>L | No |
ClinGen TOPMed |
|
|
rs764266766 CA5542605 |
822 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542606 rs753907741 |
823 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542607 rs757480833 |
823 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377124710 rs1564515969 |
825 | H>R | No |
ClinGen Ensembl |
|
|
CA377124725 rs1354692919 |
826 | T>I | No |
ClinGen gnomAD |
|
|
rs1223844745 CA377124748 |
828 | L>V | No |
ClinGen gnomAD |
|
|
rs1046581208 CA209373912 |
829 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs144834834 CA5542616 |
829 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs368410879 CA5542623 |
830 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5542661 rs747630370 |
832 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747630370 CA377125494 |
832 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542660 rs148887280 |
832 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773534132 CA209375217 |
835 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs769446964 CA5542662 |
838 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5542664 rs748980910 |
839 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1421879420 CA377125535 |
840 | C>S | No |
ClinGen gnomAD |
|
|
CA209375247 rs956882402 |
841 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs759308401 CA5542667 |
843 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760833952 CA5542666 |
843 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377125581 rs1248556948 |
847 | V>A | No |
ClinGen TOPMed |
|
|
rs1018219552 CA209375285 |
847 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5542669 rs775292756 |
848 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs765321928 CA5542671 |
849 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1279381909 CA377125601 |
851 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA377125617 rs1589210462 |
853 | P>L | No |
ClinGen Ensembl |
|
|
rs766634126 CA5542674 |
854 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1275781193 CA377125621 |
854 | Y>C | No |
ClinGen gnomAD |
|
|
rs561136948 CA5542673 |
854 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs528551610 CA5542675 |
856 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755305995 CA5542676 |
857 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377125646 rs1482147876 |
858 | I>F | No |
ClinGen gnomAD |
|
|
CA377125660 rs754158417 |
860 | L>P | No |
ClinGen TOPMed |
|
|
CA209375355 rs754158417 |
860 | L>R | No |
ClinGen TOPMed |
|
|
rs560655533 CA5542681 |
862 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542682 rs756959488 |
863 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191624177 CA5542683 |
863 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1299202850 CA377125702 |
867 | C>G | No |
ClinGen gnomAD |
|
|
rs933983606 CA209375367 |
867 | C>W | No |
ClinGen TOPMed |
|
|
CA209375368 rs982880423 |
869 | S>I | No |
ClinGen TOPMed |
|
|
CA5542685 rs771776658 |
871 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA377125737 rs775447850 |
872 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542686 rs775447850 |
872 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746976277 CA5542687 |
873 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542688 rs369633717 |
874 | N>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147460029 CA5542689 |
875 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs551306777 CA5542691 |
876 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM174999 CA5542690 rs533188246 |
876 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA5542692 rs569896402 |
878 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542693 rs759900082 |
879 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1443994577 CA377125772 |
879 | D>N | No |
ClinGen TOPMed |
|
|
rs202226424 CA5542697 |
881 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542696 rs202226424 |
881 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5542694 rs138249629 |
881 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3358843 rs1241500227 CA377125796 |
882 | M>I | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1214328330 CA377125792 |
882 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1214328330 CA377125791 |
882 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA377125806 rs1488843667 |
884 | A>T | No |
ClinGen gnomAD |
|
|
CA377125813 rs1192996689 |
885 | Q>* | No |
ClinGen gnomAD |
|
|
rs928475223 CA209375467 |
886 | K>Q | No |
ClinGen TOPMed |
|
|
CA5542698 rs753395884 |
887 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209375469 rs938457175 |
887 | L>P | No |
ClinGen Ensembl |
|
|
CA377125836 rs1247435132 |
888 | S>F | No |
ClinGen TOPMed |
|
|
CA5542700 rs143832231 |
889 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377125838 rs1159586668 |
889 | M>V | No |
ClinGen gnomAD |
|
|
rs919375260 CA377125853 |
891 | R>G | No |
ClinGen gnomAD |
|
|
rs929376293 CA209375487 |
891 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs919375260 CA209375482 COSM1675328 |
891 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA377125892 rs1199423666 |
892 | Y>C | No |
ClinGen gnomAD |
|
|
rs1181477913 CA377125948 |
896 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs769814832 CA5542725 |
896 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs867222655 CA377125962 |
897 | A>D | No |
ClinGen gnomAD |
|
|
CA209376286 rs867222655 |
897 | A>V | No |
ClinGen gnomAD |
|
|
rs898708834 CA209376287 |
900 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1194626800 CA377126035 |
903 | T>A | No |
ClinGen TOPMed |
|
|
rs772181278 CA5542728 |
903 | T>M | No |
ClinGen ExAC TOPMed |
|
|
rs772181278 CA377126041 |
903 | T>R | No |
ClinGen ExAC TOPMed |
|
|
rs1056881622 CA209376295 |
904 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1401962744 CA377126059 |
905 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs769163068 CA5542732 |
908 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377126117 rs1450027665 |
909 | L>P | No |
ClinGen gnomAD |
|
|
CA377126128 rs1291358829 |
910 | W>L | No |
ClinGen gnomAD |
|
|
CA377126160 rs1354749954 |
912 | A>V | No |
ClinGen gnomAD |
|
|
rs777236745 CA5542733 |
916 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs749883898 CA5542736 |
917 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA377126217 rs368070115 |
917 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368070115 CA5542735 |
917 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5542738 rs765877776 |
918 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1208461577 CA377126243 |
919 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1395437087 CA377126275 |
921 | N>S | No |
ClinGen TOPMed |
|
|
CA209376340 rs754730387 |
924 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754730387 CA5542740 |
924 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425108575 CA377126324 |
925 | S>N | No |
ClinGen gnomAD |
|
|
rs752541621 CA5542742 |
925 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187560242 CA377126343 |
926 | A>V | No |
ClinGen TOPMed |
|
|
CA377126346 rs1166949660 |
927 | L>V | No |
ClinGen gnomAD |
|
|
CA377126412 COSM3666814 rs1437772725 |
931 | G>D | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA377126408 rs1310861836 |
931 | G>R | No |
ClinGen gnomAD |
|
|
rs1400572651 CA377126422 |
932 | K>* | No |
ClinGen gnomAD |
|
|
CA5542745 rs777834858 |
932 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377126450 rs1404370757 |
935 | M>L | No |
ClinGen gnomAD |
|
|
rs745870058 CA5542746 |
935 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226871090 CA377126465 |
937 | V>L | No |
ClinGen gnomAD |
|
|
CA209376373 rs866169769 |
938 | A>T | No |
ClinGen Ensembl |
|
|
rs780373005 CA5542748 |
941 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149410840 CA209376384 |
941 | T>I | No |
ClinGen ESP gnomAD |
|
|
CA377126486 rs780373005 |
941 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5542750 rs769040168 |
942 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5542752 rs573596549 |
943 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs975055196 CA209376474 |
946 | C>R | No |
ClinGen TOPMed |
No associated diseases with Q8IZJ1
5 regional properties for Q8IZJ1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 1174 - 1358 | IPR000219 |
| conserved_site | Guanine-nucleotide dissociation stimulator, CDC24, conserved site | 1306 - 1331 | IPR001331 |
| domain | SH3 domain | 1510 - 1571 | IPR001452 |
| domain | Rho guanine nucleotide exchange factor 5/35, N-terminal | 1 - 478 | IPR029212 |
| domain | Ephexin-like, PH domain | 1378 - 1504 | IPR047270 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| netrin receptor activity | Combining with a netrin signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| anterior/posterior axon guidance | The process in which the migration of an axon growth cone is directed to a specific target site along the anterior-posterior body axis in response to a combination of attractive and repulsive cues. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism. |
| 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. |
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway in absence of ligand. |
| negative regulation of neuron apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
| positive regulation of phosphatidylinositol 3-kinase signaling | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7T2Z5 | UNC5C | Netrin receptor UNC5C | Gallus gallus (Chicken) | SS |
| Q6ZN44 | UNC5A | Netrin receptor UNC5A | Homo sapiens (Human) | SS |
| Q6UXZ4 | UNC5D | Netrin receptor UNC5D | Homo sapiens (Human) | SS |
| O95185 | UNC5C | Netrin receptor UNC5C | Homo sapiens (Human) | SS |
| O08747 | Unc5c | Netrin receptor UNC5C | Mus musculus (Mouse) | SS |
| Q8K1S2 | Unc5d | Netrin receptor UNC5D | Mus musculus (Mouse) | SS |
| Q8K1S4 | Unc5a | Netrin receptor UNC5A | Mus musculus (Mouse) | SS |
| Q8K1S3 | Unc5b | Netrin receptor UNC5B | Mus musculus (Mouse) | SS |
| F1LW30 | Unc5d | Netrin receptor UNC5D | Rattus norvegicus (Rat) | SS |
| O08721 | Unc5a | Netrin receptor UNC5A | Rattus norvegicus (Rat) | SS |
| Q761X5 | Unc5c | Netrin receptor UNC5C | Rattus norvegicus (Rat) | SS |
| O08722 | Unc5b | Netrin receptor UNC5B | Rattus norvegicus (Rat) | EV |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGARSGARGA | LLLALLLCWD | PRLSQAGTDS | GSEVLPDSFP | SAPAEPLPYF | LQEPQDAYIV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KNKPVELRCR | AFPATQIYFK | CNGEWVSQND | HVTQEGLDEA | TGLRVREVQI | EVSRQQVEEL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FGLEDYWCQC | VAWSSAGTTK | SRRAYVRIAY | LRKNFDQEPL | GKEVPLDHEV | LLQCRPPEGV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PVAEVEWLKN | EDVIDPTQDT | NFLLTIDHNL | IIRQARLSDT | ANYTCVAKNI | VAKRRSTTAT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VIVYVNGGWS | SWAEWSPCSN | RCGRGWQKRT | RTCTNPAPLN | GGAFCEGQAF | QKTACTTICP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VDGAWTEWSK | WSACSTECAH | WRSRECMAPP | PQNGGRDCSG | TLLDSKNCTD | GLCMQNKKTL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SDPNSHLLEA | SGDAALYAGL | VVAIFVVVAI | LMAVGVVVYR | RNCRDFDTDI | TDSSAALTGG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FHPVNFKTAR | PSNPQLLHPS | VPPDLTASAG | IYRGPVYALQ | DSTDKIPMTN | SPLLDPLPSL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KVKVYSSSTT | GSGPGLADGA | DLLGVLPPGT | YPSDFARDTH | FLHLRSASLG | SQQLLGLPRD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PGSSVSGTFG | CLGGRLSIPG | TGVSLLVPNG | AIPQGKFYEM | YLLINKAEST | LPLSEGTQTV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LSPSVTCGPT | GLLLCRPVIL | TMPHCAEVSA | RDWIFQLKTQ | AHQGHWEEVV | TLDEETLNTP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CYCQLEPRAC | HILLDQLGTY | VFTGESYSRS | AVKRLQLAVF | APALCTSLEY | SLRVYCLEDT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PVALKEVLEL | ERTLGGYLVE | EPKPLMFKDS | YHNLRLSLHD | LPHAHWRSKL | LAKYQEIPFY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| HIWSGSQKAL | HCTFTLERHS | LASTELTCKI | CVRQVEGEGQ | IFQLHTTLAE | TPAGSLDTLC |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SAPGSTVTTQ | LGPYAFKIPL | SIRQKICNSL | DAPNSRGNDW | RMLAQKLSMD | RYLNYFATKA |
| 910 | 920 | 930 | 940 | ||
| SPTGVILDLW | EALQQDDGDL | NSLASALEEM | GKSEMLVAVA | TDGDC |