A4GXA9
Gene name |
EME2 |
Protein name |
Probable crossover junction endonuclease EME2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:197342 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for A4GXA9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7F6L | X-ray | 320 A | B | 1-379 | PDB |
| AF-A4GXA9-F1 | Predicted | AlphaFoldDB |
505 variants for A4GXA9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA7818473 rs769743931 |
2 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818471 rs745897769 |
2 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769743931 CA7818472 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394244787 rs1362880433 |
4 | V>I | No |
ClinGen TOPMed |
|
|
rs1308024354 CA394244816 |
5 | G>A | No |
ClinGen gnomAD |
|
|
rs1267315833 CA394244831 |
6 | P>L | No |
ClinGen gnomAD |
|
|
rs761602098 CA7818478 |
6 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7818480 rs772872930 |
7 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs767116539 CA394244838 CA7818479 |
7 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035717487 CA276724062 |
8 | R>K | No |
ClinGen TOPMed |
|
|
rs1035717487 CA276724063 |
8 | R>T | No |
ClinGen TOPMed |
|
|
rs1387846643 CA394244868 |
9 | A>T | No |
ClinGen TOPMed |
|
|
rs960179050 CA276724064 |
9 | A>V | No |
ClinGen gnomAD |
|
|
CA276724067 rs1013828689 |
10 | G>A | No |
ClinGen TOPMed |
|
|
CA276724066 rs925839946 |
10 | G>R | No |
ClinGen TOPMed |
|
|
rs765773599 CA7818482 |
11 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765773599 CA276724069 |
11 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421705327 CA394244906 |
12 | S>P | No |
ClinGen gnomAD |
|
|
rs1348739190 CA394244952 |
14 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1428519431 CA394244964 |
14 | Q>H | No |
ClinGen gnomAD |
|
|
CA7818484 rs372940829 |
14 | Q>R | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs1026922453 CA276724076 |
15 | G>A | No |
ClinGen TOPMed |
|
|
rs758815748 CA7818486 |
15 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1026922453 CA394244968 |
15 | G>V | No |
ClinGen TOPMed |
|
|
rs951011466 CA276724078 |
16 | R>Q | No |
ClinGen gnomAD |
|
|
CA7818489 rs545268907 |
17 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276724080 rs545268907 |
17 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1309498275 CA394244999 |
18 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA276724085 rs888712275 |
19 | G>E | No |
ClinGen TOPMed |
|
|
CA7818494 rs376006516 |
20 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756428652 CA7818495 |
21 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs895980944 CA276724089 |
23 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394245073 rs1189758493 |
23 | S>T | No |
ClinGen TOPMed |
|
|
CA7818496 rs779987281 |
26 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482481034 CA394245110 |
26 | R>W | No |
ClinGen gnomAD |
|
|
CA7818497 rs749401933 |
27 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs749401933 CA394245129 |
27 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768515441 CA394245137 |
28 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818498 rs768515441 |
28 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022697647 CA276724093 |
28 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394245163 rs1294335417 |
31 | W>* | No |
ClinGen TOPMed |
|
|
CA394245160 rs1175190563 |
31 | W>L | No |
ClinGen gnomAD |
|
|
rs1176749917 CA394245168 |
32 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394245200 rs1334303426 |
34 | S>L | No |
ClinGen TOPMed |
|
|
rs200988728 CA7818499 |
35 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747889912 CA7818500 |
35 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276724096 rs903468782 |
36 | S>P | No |
ClinGen Ensembl |
|
|
CA7818503 rs760238431 |
37 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA394245239 rs1422552957 |
38 | A>S | No |
ClinGen gnomAD |
|
|
CA394245260 rs1367365607 |
40 | D>H | No |
ClinGen gnomAD |
|
|
CA394245259 rs1367365607 |
40 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1411305061 CA394245277 |
41 | S>F | No |
ClinGen gnomAD |
|
|
CA394245289 rs572288415 |
43 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572288415 CA7818507 |
43 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572288415 CA394245291 |
43 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1264097531 CA394245304 |
44 | S>L | No |
ClinGen gnomAD |
|
|
rs762453887 CA7818509 |
45 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA276724103 rs531772673 |
48 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs767992290 CA7818511 |
50 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394245353 rs1449539615 |
50 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs767992290 CA7818510 |
50 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818513 rs756235023 |
54 | A>E | No |
ClinGen ExAC |
|
|
rs756235023 CA394245394 |
54 | A>V | No |
ClinGen ExAC |
|
|
CA276724108 rs541267274 |
55 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1338015875 CA394245410 |
56 | E>* | No |
ClinGen TOPMed |
|
|
rs755072652 CA7818516 |
57 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA394245425 rs755072652 |
57 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 58 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318785658 CA394245434 |
58 | R>K | No |
ClinGen gnomAD |
|
|
CA394245437 rs1567226419 |
58 | R>S | No |
ClinGen Ensembl |
|
|
CA7818518 rs779012573 |
59 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1301825887 CA394245452 |
60 | A>V | No |
ClinGen TOPMed |
|
|
CA7818519 rs748045808 |
62 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1221384776 CA394245479 |
63 | A>V | No |
ClinGen gnomAD |
|
|
CA394245493 rs1327505126 |
65 | R>Q | No |
ClinGen TOPMed |
|
|
CA276724113 rs921366795 |
67 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1220228144 CA394245514 |
68 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1012970017 CA276724115 |
69 | P>L | No |
ClinGen gnomAD |
|
|
rs1273413326 CA394245528 |
70 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs776373222 CA7818525 |
71 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7818526 rs776373222 |
71 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA7818528 rs201717218 |
71 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000968720 rs201717218 CA7818527 |
71 | Q>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7818530 rs768153832 |
72 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1322995443 CA394245560 |
73 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7818533 rs766464153 |
73 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1304274992 CA394245571 |
74 | K>N | No |
ClinGen gnomAD |
|
|
rs1439224370 CA394245568 |
74 | K>R | No |
ClinGen gnomAD |
|
|
rs1350314476 CA394245574 |
75 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1350314476 CA394245573 |
75 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394245579 rs1408354597 |
75 | R>L | No |
ClinGen gnomAD |
|
|
CA394245582 rs755233857 |
76 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818535 rs755233857 |
76 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394245590 rs1278823254 |
77 | A>T | No |
ClinGen TOPMed |
|
|
CA7818538 rs202231563 |
77 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394245604 rs1244545020 |
78 | V>G | No |
ClinGen gnomAD |
|
|
CA7818539 rs190213042 RCV000969663 |
79 | C>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs190213042 CA7818541 |
79 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7818540 rs190213042 |
79 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7818542 rs780894847 |
80 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1019240163 CA276724125 |
80 | V>M | No |
ClinGen TOPMed |
|
|
rs1567226501 CA394245629 |
81 | D>V | No |
ClinGen Ensembl |
|
|
CA394245641 rs1184111393 |
83 | A>P | No |
ClinGen gnomAD |
|
|
CA7818566 rs768190872 |
84 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA394245719 rs924742128 |
85 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA276724208 rs924742128 |
85 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7818567 rs773774708 |
86 | E>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394245732 rs773774708 |
86 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394245752 rs1245345231 |
87 | D>E | No |
ClinGen Ensembl |
|
|
CA7818569 rs771398630 |
87 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394245756 rs1161039509 |
88 | A>T | No |
ClinGen TOPMed |
|
|
rs776920899 CA7818570 |
88 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765401210 CA7818572 |
89 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7818571 rs759897366 |
89 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 91 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1383391226 CA394245815 |
92 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394245832 rs1481587740 |
93 | L>P | No |
ClinGen TOPMed |
|
|
rs1481587740 CA394245830 |
93 | L>Q | No |
ClinGen TOPMed |
|
|
rs201737681 CA394245861 CA7818577 |
94 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751652697 CA394245909 |
97 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276724216 rs920676787 |
99 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA276724218 rs945752344 |
101 | G>R | No |
ClinGen TOPMed |
|
|
rs761755726 CA7818579 |
102 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394246018 rs1207009155 |
103 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394246019 rs1207009155 |
103 | E>Q | No |
ClinGen gnomAD |
|
|
CA394246059 rs1040041297 |
105 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA276724222 rs1040041297 |
105 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs750205139 CA7818581 |
107 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1409271541 CA394246098 |
108 | P>H | No |
ClinGen gnomAD |
|
|
CA394246091 rs1158024218 |
108 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1454986127 CA394246102 |
109 | Q>* | No |
ClinGen gnomAD |
|
|
CA7818582 rs755997861 |
110 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7818583 rs780043716 |
110 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886910511 CA276724224 |
111 | P>R | No |
ClinGen gnomAD |
|
|
rs1385076349 CA394246128 |
111 | P>S | No |
ClinGen gnomAD |
|
|
CA394246132 rs1408963552 |
112 | A>S | No |
ClinGen gnomAD |
|
|
CA7818585 rs754653019 |
113 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394246156 rs1370784928 |
114 | S>N | No |
ClinGen TOPMed |
|
|
CA276724227 rs1040947078 |
115 | L>V | No |
ClinGen gnomAD |
|
|
CA394246180 rs1261388776 |
116 | R>Q | No |
ClinGen gnomAD |
|
|
rs778471994 CA7818586 |
118 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA394246220 rs1271652829 |
119 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394246218 rs1271652829 |
119 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA276724229 rs901114865 |
120 | A>E | No |
ClinGen Ensembl |
|
| TCGA novel | 120 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA276724230 rs755542062 |
121 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs996083815 CA394246239 |
121 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs996083815 CA276724232 |
121 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394246585 rs1401312006 |
122 | P>T | No |
ClinGen gnomAD |
|
|
CA7818588 rs573283501 |
124 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276724630 rs781684913 |
124 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818589 rs781684913 |
124 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818587 rs573283501 |
124 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746179767 CA7818590 |
125 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA394246660 rs1455916024 |
126 | P>L | No |
ClinGen gnomAD |
|
|
rs1484312352 CA394246658 |
126 | P>S | No |
ClinGen TOPMed |
|
|
rs770118349 CA7818591 |
127 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547679861 CA7818592 |
128 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394246692 rs1318845660 |
128 | S>T | No |
ClinGen TOPMed |
|
|
CA276724792 rs370257315 |
129 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7818611 rs780342111 |
130 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1175120747 CA394246800 |
130 | P>S | No |
ClinGen gnomAD |
|
|
rs1468495553 CA394246809 |
131 | P>S | No |
ClinGen gnomAD |
|
|
CA7818613 rs749623654 |
132 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7818612 rs749623654 |
132 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA394246873 rs1406985271 |
134 | W>S | No |
ClinGen gnomAD |
|
|
CA276724799 rs1011860303 |
135 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs775087880 CA276724801 |
135 | A>V | No |
ClinGen Ensembl |
|
|
rs1489374389 CA394246898 |
136 | A>S | No |
ClinGen TOPMed |
|
|
rs1287147739 CA394246905 |
136 | A>V | No |
ClinGen gnomAD |
|
|
rs1364721902 CA394246937 |
138 | E>G | No |
ClinGen gnomAD |
|
|
CA394246948 rs1215605939 |
139 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA394246963 rs1301017055 |
139 | Q>H | No |
ClinGen gnomAD |
|
|
CA7818614 rs774459611 |
140 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288010807 CA394246997 |
141 | L>F | No |
ClinGen TOPMed |
|
|
CA7818617 rs748453897 |
142 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263355660 CA394247024 |
144 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs952305137 CA276724813 |
148 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs760675298 CA7818620 |
149 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs373671283 CA7818619 |
149 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596847385 CA394247083 |
150 | F>V | No |
ClinGen Ensembl |
|
|
rs776419353 CA7818622 |
151 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs759279647 CA7818623 |
152 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456863882 CA394247102 |
152 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1346966435 CA394247108 |
153 | G>C | No |
ClinGen gnomAD |
|
|
rs1346966435 CA394247110 |
153 | G>S | No |
ClinGen gnomAD |
|
|
CA7818625 rs752266761 |
155 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394247127 rs1344078787 |
155 | A>V | No |
ClinGen gnomAD |
|
|
CA276724820 rs953133282 |
156 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1407117721 CA394247145 |
158 | T>A | No |
ClinGen gnomAD |
|
|
CA394247148 rs1284285382 |
158 | T>I | No |
ClinGen gnomAD |
|
|
CA394247149 rs1328073791 |
159 | Q>K | No |
ClinGen gnomAD |
|
|
CA7818669 rs765777040 |
160 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs140870700 CA7818671 |
162 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547167106 CA7818672 |
164 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA276725373 rs777850544 |
165 | H>N | No |
ClinGen gnomAD |
|
|
CA394248060 rs1170021140 |
165 | H>Q | No |
ClinGen gnomAD |
|
|
CA7818675 rs751796612 |
165 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777850544 CA394248048 |
165 | H>Y | No |
ClinGen gnomAD |
|
|
rs781115889 CA7818677 |
166 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA394248067 rs1378717492 |
166 | W>* | No |
ClinGen TOPMed |
|
|
rs757562944 CA7818676 |
166 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA7818679 rs148313225 |
168 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394248141 rs534678192 |
170 | I>M | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1229447357 CA394248154 |
171 | S>F | No |
ClinGen gnomAD |
|
|
rs1055597315 CA276725412 |
172 | P>S | No |
ClinGen TOPMed |
|
|
rs749277136 CA7818682 |
173 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394248186 rs1223193210 |
173 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7818681 rs749277136 |
173 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772529627 CA394248215 |
176 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818684 rs200289185 |
176 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200289185 CA7818685 |
176 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772529627 CA7818686 |
176 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394248222 rs1445777080 |
177 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs370196251 CA7818687 |
177 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781257318 CA7818688 |
178 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173867417 CA394248283 |
181 | A>V | No |
ClinGen gnomAD |
|
|
rs764544647 CA7818692 |
183 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs764544647 CA394248310 |
183 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs764544647 CA394248312 |
183 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7818694 rs757361579 |
184 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276725441 rs374046300 |
184 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs757361579 CA7818695 |
184 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818696 rs750423079 |
185 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7818699 rs749219990 |
186 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7818700 rs754966498 |
187 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA394248526 rs1178682727 |
190 | W>* | No |
ClinGen gnomAD |
|
|
rs1567227616 CA394248403 |
190 | W>* | No |
ClinGen Ensembl |
|
|
rs755893525 CA7818761 |
192 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141898850 CA7818762 |
192 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA276725592 rs772885888 |
194 | H>P | No |
ClinGen Ensembl |
|
|
CA394248580 rs1401022644 |
194 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1596849260 CA394248570 |
194 | H>Y | No |
ClinGen Ensembl |
|
|
CA394248581 rs1282982818 |
195 | V>I | No |
ClinGen gnomAD |
|
|
CA7818765 rs200684848 |
197 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394248615 rs369803881 |
197 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7818766 rs369803881 |
197 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200684848 CA7818764 |
197 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144550615 CA7818767 |
198 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs983742775 CA276725605 |
199 | T>I | No |
ClinGen TOPMed |
|
|
rs769917579 CA7818770 |
200 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1488554376 CA394248669 |
201 | Q>* | No |
ClinGen gnomAD |
|
|
CA394248674 rs1469495773 |
201 | Q>R | No |
ClinGen TOPMed |
|
|
CA7818772 rs762971032 |
202 | P>L | No |
ClinGen ExAC |
|
|
CA394248699 rs762971032 |
202 | P>R | No |
ClinGen ExAC |
|
|
rs764041136 CA7818773 |
203 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7818775 rs148471217 |
204 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394248729 rs1418543537 |
204 | S>R | No |
ClinGen gnomAD |
|
|
CA7818778 rs750260632 |
205 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750260632 CA7818777 |
205 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818776 rs200988006 |
205 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000969664 CA7818784 rs74763106 |
209 | G>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs141795599 CA394248791 |
209 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141795599 CA7818783 |
209 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1043855549 CA276725623 |
210 | A>V | No |
ClinGen TOPMed |
|
|
CA7818787 rs781473892 |
211 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818786 rs781473892 |
211 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781473892 CA394248808 |
211 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143254614 CA7818789 |
213 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143254614 CA394248833 |
213 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA276725637 rs377305101 |
214 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA276725635 rs377305101 |
214 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394248850 rs1469772038 |
215 | S>G | No |
ClinGen gnomAD |
|
|
CA7818791 rs368564414 |
215 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276725642 rs1039552298 |
216 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7818793 rs766315969 |
217 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276725647 rs766315969 |
217 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394248878 rs774634562 |
217 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7818792 rs774634562 |
217 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7818796 rs760410107 |
218 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394248911 rs1596849482 |
219 | V>G | No |
ClinGen Ensembl |
|
|
rs766246804 CA7818797 |
219 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA394248920 rs1285143154 |
220 | E>G | No |
ClinGen TOPMed |
|
|
CA7818799 rs146708149 |
221 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7818801 rs201528843 CA276725658 |
221 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764639450 CA7818800 |
221 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs146708149 CA7818798 |
221 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7818833 rs776221524 |
222 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA394249000 rs1223066483 |
223 | L>R | No |
ClinGen gnomAD |
|
|
CA276725733 rs1020721442 |
225 | L>F | No |
ClinGen gnomAD |
|
|
rs769384187 CA7818835 |
226 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs902663061 CA276725734 |
227 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1003745212 CA276725738 |
227 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7818837 rs762631866 |
227 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA394249057 rs1567228021 |
229 | W>* | No |
ClinGen Ensembl |
|
|
rs751095792 CA394249056 |
229 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818839 rs751095792 |
229 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394249099 rs1200624339 |
233 | D>N | No |
ClinGen Ensembl |
|
|
rs754107144 CA7818842 |
234 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371577485 CA7818843 |
235 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394249135 rs1364732199 |
236 | L>P | No |
ClinGen gnomAD |
|
|
rs752965317 CA7818845 |
237 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs758749133 CA7818846 |
238 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1349163921 CA394249176 |
240 | W>* | No |
ClinGen gnomAD |
|
|
rs747113488 CA7818848 |
241 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276725756 rs1012508849 |
242 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7818849 rs770734084 |
242 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1219851129 CA394249212 |
243 | L>P | No |
ClinGen gnomAD |
|
|
rs370009102 CA7818851 |
245 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7818850 rs200162380 |
245 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276725764 rs200958056 |
246 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150023204 CA7818853 |
247 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7818856 rs773694902 |
248 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394249273 rs1567228063 |
248 | C>Y | No |
ClinGen Ensembl |
|
|
rs766989037 CA7818858 |
249 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7818860 rs760190597 |
250 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181546633 CA394249300 |
251 | T>A | No |
ClinGen TOPMed |
|
|
rs1376309158 CA394249305 |
251 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs950591092 CA276725788 |
252 | K>T | No |
ClinGen gnomAD |
|
|
CA7818862 rs765680620 |
253 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376746938 CA394249346 |
255 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376746938 CA7818864 |
255 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359304378 CA394249351 |
255 | A>V | No |
ClinGen gnomAD |
|
|
CA7818866 rs149208934 |
256 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7818867 rs149208934 |
256 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7818868 rs781167521 |
256 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7818869 rs745799706 |
257 | Y>H | No |
ClinGen ExAC |
|
|
CA394249382 rs1239518897 |
258 | P>L | No |
ClinGen TOPMed |
|
|
rs376700961 CA7818872 |
258 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7818871 rs376700961 |
258 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178671189 CA394249396 |
259 | L>P | No |
ClinGen gnomAD |
|
|
rs914886788 CA276725814 |
260 | K>E | No |
ClinGen Ensembl |
|
|
rs769049876 CA7818919 |
261 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA394249482 rs61746608 |
262 | Y>C | No |
ClinGen Ensembl |
|
|
CA276725878 rs61746608 |
262 | Y>S | No |
ClinGen Ensembl |
|
|
rs372118667 CA7818920 |
263 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772536820 CA394249492 |
263 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs772536820 CA7818922 |
263 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7818921 rs372118667 |
263 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773395650 CA7818923 |
265 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs143404253 CA7818926 |
266 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143404253 CA7818925 |
266 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1192994441 CA394249524 |
266 | Q>H | No |
ClinGen gnomAD |
|
|
rs143404253 CA394249519 |
266 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276725884 rs986536342 |
266 | Q>L | No |
ClinGen TOPMed |
|
|
rs759448836 CA7818927 |
267 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752483998 CA7818931 |
269 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1382594801 CA394249565 |
270 | F>C | No |
ClinGen gnomAD |
|
|
rs1420725834 CA394249577 |
271 | C>Y | No |
ClinGen gnomAD |
|
|
rs777751524 CA7818933 |
272 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 273 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540307002 CA7818934 |
274 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377368785 CA7818935 |
275 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA276725893 rs867402075 |
275 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs867402075 CA394249619 |
275 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs745402339 CA7818938 |
276 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818939 rs147870863 |
276 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394249624 rs780790049 |
276 | W>G | No |
ClinGen ExAC TOPMed |
|
|
rs745402339 CA7818937 |
276 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780790049 CA7818936 |
276 | W>R | No |
ClinGen ExAC TOPMed |
|
|
rs772425480 CA7818942 |
277 | A>G | No |
ClinGen ExAC TOPMed |
|
|
rs367926696 CA7818940 |
277 | A>T | No |
ClinGen ExAC |
|
|
rs772425480 CA7818941 |
277 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs765402613 CA7818947 |
278 | A>D | No |
ClinGen ExAC |
|
|
rs776729688 CA7818945 |
278 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs776729688 CA7818946 |
278 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA394249640 rs776729688 |
278 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA394249650 rs763966095 |
279 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394249651 rs1287384268 |
279 | G>D | No |
ClinGen gnomAD |
|
|
CA276725913 rs763966095 |
279 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818952 rs763966095 |
279 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394249654 rs1287384268 |
279 | G>V | No |
ClinGen gnomAD |
|
|
CA7818956 rs767302812 |
280 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574208010 CA7818957 |
280 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7818955 rs767302812 |
280 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818958 rs779686215 |
281 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748594133 CA7818959 |
282 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7818963 rs747403307 |
286 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818962 rs778047850 |
286 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA7818965 rs776691789 |
287 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394250139 rs1165015989 |
287 | A>V | No |
ClinGen gnomAD |
|
|
CA7818968 rs775696974 |
288 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818967 rs769758190 |
288 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762924048 CA7818969 |
290 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7818970 rs764129759 |
291 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7818971 rs114640322 |
291 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1230281143 CA394250174 |
292 | A>S | No |
ClinGen gnomAD |
|
|
rs1175275243 CA394250186 |
293 | W>* | No |
ClinGen TOPMed |
|
|
CA7818974 rs750041010 |
294 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276726470 rs371450157 |
294 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs202056564 CA7818975 |
295 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394250231 rs1187445526 |
297 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs562711182 CA7818976 |
298 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7818978 rs753395496 |
298 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818979 rs778272342 |
299 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394250256 rs1422503847 |
300 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs747561335 CA7818980 |
301 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs199869634 CA7818982 |
302 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757582244 CA7818981 |
302 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394250287 rs1360783055 |
304 | S>N | No |
ClinGen gnomAD |
|
|
rs1025604407 CA7818984 |
305 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1477109677 CA394250310 |
306 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs779930109 CA7818987 |
307 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7818989 rs768907545 |
308 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs774399655 CA7818990 |
308 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771754192 CA394250344 |
310 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771754192 CA7818993 |
310 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161346413 CA394250353 |
311 | V>A | No |
ClinGen TOPMed |
|
|
rs1008242861 CA276726505 |
311 | V>I | No |
ClinGen Ensembl |
|
|
CA7818994 rs773077546 |
312 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476666681 CA394250370 |
313 | T>I | No |
ClinGen gnomAD |
|
|
CA7818995 rs760181032 |
314 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7818997 rs766090627 |
315 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1170241246 CA394250393 |
316 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs563874572 CA394250396 |
316 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA276726515 rs563874572 |
316 | P>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs759022450 CA394250404 |
317 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs952397000 CA276726524 |
317 | S>P | No |
ClinGen TOPMed |
|
|
rs759022450 CA7819000 |
317 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7819004 rs150341255 |
318 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150341255 CA7819003 |
318 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150341255 CA7819005 |
318 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1398440531 CA394250410 |
318 | P>T | No |
ClinGen gnomAD |
|
|
CA7819008 rs138047300 |
319 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7819009 rs138047300 |
319 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149531255 CA7819010 |
319 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138047300 CA276726543 |
319 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000958699 CA7819012 rs61753375 |
322 | Q>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1219195896 CA394250443 |
322 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1450626661 CA394250455 |
323 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7819014 rs772844873 |
323 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772844873 CA7819013 |
323 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766792983 CA7819042 |
324 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs754262901 CA7819043 |
324 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199593669 CA7819047 |
326 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199593669 CA7819046 |
326 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394250516 rs1342246417 |
327 | A>T | No |
ClinGen TOPMed |
|
|
CA7819048 rs777777467 |
327 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA394250541 rs1421864609 |
329 | S>G | No |
ClinGen gnomAD |
|
|
CA394250546 rs1411817563 |
329 | S>T | No |
ClinGen Ensembl |
|
|
rs528910143 CA7819051 |
330 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1243291095 CA394250557 |
330 | T>S | No |
ClinGen TOPMed |
|
|
rs769388005 CA7819054 |
331 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs371199330 CA7819058 |
332 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7819057 rs371199330 |
332 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7819056 rs371199330 |
332 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7819055 rs376865399 |
332 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1297527486 CA394250580 |
333 | E>* | No |
ClinGen TOPMed |
|
|
rs531529878 CA7819059 |
333 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7819060 rs201221323 |
334 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777091490 CA7819061 |
334 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777091490 CA7819062 |
334 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534005461 CA7819066 CA7819065 |
335 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs571431327 CA7819064 |
335 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765733601 CA7819063 |
335 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7819068 rs146182784 |
338 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276726747 rs146182784 |
338 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781130749 CA7819069 |
339 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA394250642 rs1483123437 |
340 | D>E | No |
ClinGen TOPMed |
|
|
rs376076255 CA7819071 |
340 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1256588352 CA394250648 |
341 | L>F | No |
ClinGen gnomAD |
|
|
rs779770797 CA7819072 |
342 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370392578 CA7819074 |
343 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7819073 rs554266327 |
343 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554266327 CA394250662 |
343 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7819076 rs142570450 |
344 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1171172404 CA394250669 |
344 | P>T | No |
ClinGen gnomAD |
|
|
CA276726796 rs891405159 |
345 | P>L | No |
ClinGen TOPMed |
|
|
CA7819078 rs777250776 |
346 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394250683 rs1376417135 |
346 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1295994377 CA394250692 |
348 | G>S | No |
ClinGen gnomAD |
|
|
rs556430480 CA7819081 |
349 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7819082 rs139910310 |
350 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs61753376 CA7819083 |
350 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA276726827 rs1014201857 |
351 | P>R | No |
ClinGen TOPMed |
|
|
rs764253118 CA7819085 |
351 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs751607323 CA7819086 |
352 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7819087 rs147967590 |
352 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394250715 rs1183089812 |
353 | R>G | No |
ClinGen Ensembl |
|
|
rs1489361947 CA394250719 |
353 | R>K | No |
ClinGen gnomAD |
|
|
CA394250724 rs1266760904 |
354 | V>L | No |
ClinGen gnomAD |
|
|
rs1266760904 CA394250722 |
354 | V>M | No |
ClinGen gnomAD |
|
|
CA7819090 rs756061641 |
356 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA394250748 rs1366753613 |
357 | D>A | No |
ClinGen Ensembl |
|
|
rs1490041067 CA394250756 |
358 | L>V | No |
ClinGen TOPMed |
|
|
rs180991359 CA394250764 |
359 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs180991359 CA7819092 |
359 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7819093 rs147671872 |
360 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778411986 CA7819094 |
360 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7819096 rs747846198 |
361 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373943596 CA7819097 |
361 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7819095 rs747846198 |
361 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394250838 rs1221833317 |
367 | T>I | No |
ClinGen TOPMed |
|
|
rs1216757624 CA394250848 |
368 | T>I | No |
ClinGen gnomAD |
|
|
rs775882954 CA7819101 |
369 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs763246685 CA7819102 |
370 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs149157689 CA276726869 |
371 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394250871 rs1254189181 |
371 | P>R | No |
ClinGen gnomAD |
|
|
rs149157689 CA7819103 |
371 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762080590 CA7819106 |
373 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394250892 rs1275776961 |
373 | L>H | No |
ClinGen gnomAD |
|
|
rs762080590 CA394250887 |
373 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394250895 rs1202197169 |
374 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7819109 rs760567719 |
375 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174906627 CA394250905 |
375 | L>Q | No |
ClinGen TOPMed |
|
|
CA7819105 rs765194746 |
375 | L>T | No |
ClinGen ExAC |
|
|
rs760567719 CA7819110 |
375 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7819112 rs143305780 |
377 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7819114 rs765150813 |
378 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs958183886 CA276726912 |
379 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1311266231 CA394250942 |
379 | S>P | No |
ClinGen gnomAD |
|
|
rs958183886 CA394250945 |
379 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394250951 rs1227487248 |
380 | S>G | No |
ClinGen gnomAD |
|
|
CA394250948 rs1227487248 |
380 | S>R | No |
ClinGen gnomAD |
No associated diseases with A4GXA9
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endodeoxyribonuclease complex | A protein complex which is capable of endodeoxyribonuclease activity. |
| Holliday junction resolvase complex | An endodeoxyribonuclease complex that resolves the 4-way DNA intermediates of a Holliday junction into two separate duplex DNA molecules. Can be branch-migration associated. |
| nuclear replication fork | The Y-shaped region of a nuclear replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| endonuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| mitotic intra-S DNA damage checkpoint signaling | A mitotic cell cycle checkpoint that slows DNA synthesis in response to DNA damage by the prevention of new origin firing and the stabilization of slow replication fork progression. |
| replication fork processing | The process in which a DNA replication fork that has stalled is restored to a functional state and replication is restarted. The stalling may be due to DNA damage, DNA secondary structure, bound proteins, dNTP shortage, or other causes. |
| resolution of meiotic recombination intermediates | The cleavage and rejoining of intermediates, such as Holliday junctions, formed during meiotic recombination to produce two intact molecules in which genetic material has been exchanged. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARVGPGRAG | VSCQGRGRGR | GGSGQRRPPT | WEISDSDAED | SAGSEAAARA | RDPAGERRAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AEALRLLRPE | QVLKRLAVCV | DTAILEDAGA | DVLMEALEAL | GCECRIEPQR | PARSLRWTRA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SPDPCPRSLP | PEVWAAGEQE | LLLLLEPEEF | LQGVATLTQI | SGPTHWVPWI | SPETTARPHL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AVIGLDAYLW | SRQHVSRGTQ | QPESPKVAGA | EVAVSWPEVE | EALVLLQLWA | NLDVLLVASW |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QELSRHVCAV | TKALAQYPLK | QYRESQAFSF | CTAGRWAAGE | PVARDGAGLQ | AAWRRQIRQF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SRVSPAVADA | VVTAFPSPRL | LQQALEACST | ERERMGLLAD | LPVPPSEGGR | PRRVGPDLSR |
| 370 | |||||
| RICLFLTTAN | PDLLLDLGS |